part_of
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manual_assertion
ORPHA number no more in use. Deprecated entities are part of them. They are clinical entities thought to be unique in the past but now considered, thanks to the evolution of the knowledge, part of another clinical entity.
obsolete class
The 48,XXYY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of an extra X and Y chromosome in males.
orphanet
48,XXYY syndrome
Louis-Bar syndrome
Ataxia-telangiectasia is the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterised by neurological signs, telangiectasias, increased susceptibility to infections and a higher risk of cancer.
Ataxia-telangiectasia
Ocular albinism with late-onset sensorineural deafness is a rare, X-linked inherited subtype of ocular albinism characterized by severe visual impairment, translucent pale-blue irises, a reduction in the retinal pigment and moderately severe deafness with onset ranging from adolescence to fourth or fifth decade of life.
Ocular albinism with late-onset sensorineural deafness
Reticular perineurioma
Sclerosing perineurioma
Soft tissue perineurioma
Extraneural perineurioma is a rare tumor of cranial and spinal nerves arising from peripheral nerve sheet and composed exclusively or predominantly of cells showing perineurial differentiation. It presents as a well-circumscribed, rarely encapsulated mass, not associated with a recognizable nerve, most commonly arising in the dermis and subcutis of the extremities or trunk, or, rarely, in deep soft tissue or skin (e.g., in the stomach, kidney, pancreas, maxillary sinus, mandible, bronchial tree and the face). The clinical presentation depends on the localization.
Extraneural perineurioma
Intraneural perineurioma is a rare tumor of cranial and spinal nerves arising from peripheral nerve sheet and composed exclusively or predominantly of cells showing perineurial differentiation. It presents as a localized, tubular or fusiform enlargement of a nerve or nerve segment, usually in the extremities or the trunk, associated with a motor-predominant mononeuropathy including slow, painless, gradual loss of motor function in the involved nerve trunk with muscle weakness and atrophy and, rarely, sensory dysfunction. Cranial nerve involvement is rare.
Intraneural perineurioma
ABetaE22Q amyloidosis
HCHWA, Dutch type
HCHWA-D
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type (HCHWA-D) is a form of HCHWA (see this term), a group of familial central nervous system disorders, characterized by severe cerebral amyloid angiopathy (CAA), hemorrhagic and non-hemorrhagic strokes and dementia.
ABeta amyloidosis, Dutch type
CST3-related amyloidosis
Cystatin amyloidosis
HCHWA, Icelandic type
Hereditary cerebral hemorrhage with amyloidosis, Icelandic type
Hereditary cystatin C amyloid angiopathy
Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Icelandic type is a form of HCHWA (see this term) characterized by an age of onset of 20-30 years, systemic amyloidosis and recurrent lobar intracerebral hemorrhages.
ACys amyloidosis
Lissencephaly with cerebellar hypoplasia type A (LCHa) is a form of lissencephaly with cerebellar hypoplasia that encompasses classical lissencephaly with thickened cortical gray matter with either no discernable gradient, a gradient with posterior predominance, or a gradient with anterior predominance, and cerebellar vermis hypoplasia.
Lissencephaly with cerebellar hypoplasia type A
Lissencephaly with cerebellar hypoplasia type B (LCHb) is a form of lissencephaly with cerebellar hypoplasia characterized by subtle microcephaly, hypotonia and neurological and cognitive development delay. Hippocampal malformation is a characteristic imaging feature of LCHb.
Lissencephaly with cerebellar hypoplasia type B
Lissencephaly with cerebellar hypoplasia type C (LCHc) is a severe form of lissencephaly with cerebellar hypoplasia characterized by severe microcephaly, cleft palate, and severe cerebellar and brainstem hypoplasia leading to neonatal death.
Lissencephaly with cerebellar hypoplasia type C
Lissencephaly with cerebellar hypoplasia type D (LCHd) is a form of lissencephaly with cerebellar hypoplasia characterized by pronounced microcephaly (at least ± 3 SD), intellectual disability, spastic diplegia and moderate to severe cerebellar hypoplasia involving both vermis and hemispheres.
Lissencephaly with cerebellar hypoplasia type D
Lissencephaly with cerebellar hypoplasia type E (LCHe) is a form of lissencephaly with cerebellar hypoplasia, characterized by an abrupt transition from agyria to gyral simplification, near the boundary between frontal and parietal cortex, microcephaly (± 3 SD) and brainstem hypoplasia.
Lissencephaly with cerebellar hypoplasia type E
Lissencephaly with cerebellar hypoplasia type F (LCHf) is a severe form of lissencephaly with cerebellar hypoplasia, characterized by a microcephaly of at least - 3 SD and a thick cortex associated with complete absence of the corpus callosum.
Lissencephaly with cerebellar hypoplasia type F
RAEB-1
Refractory anemia with excess blasts (RAEB), type 1 is a severe type of RAEB (see this term) characterized by cytopenias and the following hematological parameters: uni- or multilineage dysplasia, 5% to 9% blasts in bone marrow or 2% to 4% in peripheral blood, and no Auer rods (abnormal, needle-shaped or round inclusions in the cytoplasm of myeloblasts and promyelocytes). Median survival has been reported to be 18 months.
Refractory anemia with excess blasts type 1
RAEB-2
Refractory anemia with excess blasts (RAEB), type 2 is a very severe type of RAEB (see this term) characterized by cytopenias and the following hematological parameters: uni- or multilineage dysplasia, 10% to 19% blasts in bone marrow or 5% to 19% in peripheral blood, variable presence of Auer rods (abnormal, needle-shaped or round inclusions in the cytoplasm of myeloblasts and promyelocytes). Median survival has been reported to be 18 months.
Refractory anemia with excess blasts type 2
Primary plasmacytoma of the bone
Extramedullary soft tissue plasmacytoma
mu-HCD
Mu-heavy chain disease (mu-HCD) is a type of HCD (see this term) characterized by the production of incomplete monoclonal mu-heavy chains without associated light chains. The clinical presentation resembles that of patients with chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL; see this term).
Mu-heavy chain disease
Alpha-HCD
IPSID
Immunoproliferative small intestinal disease
Mediterranean lymphoma
Alpha-heavy chain disease (alpha-HCD) is a type of HCD (see this term) characterized by the production of incomplete monoclonal alpha-heavy chains without associated light chains. Alpha-HCD is considered to be a subtype of immunoproliferative small intestinal disease (IPSID; see this term). The clinical presentation includes chronic diarrhea with evidence of malabsorption.
Alpha-heavy chain disease
Franklin disease
Gamma-HCD
Gamma-heavy chain disease (gamma-HCD) is a type of HCD (see this term) characterized by the production of incomplete monoclonal gamma-heavy chains without associated light chains. The clinical presentation most commonly resembles that of patients with systemic lymphoproliferative/autoimmune diseases.
Gamma-heavy chain disease
Amelogenesis imperfecta type 1
Hypoplastic amelogenesis imperfecta
Amelogenesis imperfecta type 3
Hypocalcified amelogenesis imperfecta
Amelogenesis imperfecta type 2
Hypomaturation amelogenesis imperfecta
Amelogenesis imperfecta type 4
Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
Hepatic solitary necrotic nodule
Solitary necrotic tumor of the liver is a rare nonmalignant hepatic lesion characterized by a mass with a completely necrotic core often partially calcified, surrounded by a dense hyalinized fibrous capsule containing elastin fibers. Patients are usually asymptomatic but some may suffer from intermittent abdominal pain or discomfort.
Solitary necrotic nodule of the liver
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_3202 with label: Dehydrated hereditary stomatocytosis
use http://www.orpha.net/ORDO/Orphanet_90044 with label: Familial pseudohyperkalemia
OBSOLETE: Familial pseudohyperkalemia type 2
OBSOLETE: Familial pseudohyperkalemia, Cardiff type
CMTDIA
Autosomal dominant intermediate Charcot-Marie-Tooth disease type A is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with usual clinical features of Charcot-Marie-Tooth disease (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities) in the first to second decade of life with steady progression until the fourth decade, severe progression and stabilization afterwards.
Autosomal dominant intermediate Charcot-Marie-Tooth disease type A
CMTDIB
Autosomal dominant intermediate Charcot-Marie-Tooth disease type B is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with mild to moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings include asymptomatic neutropenia and early-onset cataracts.
Autosomal dominant intermediate Charcot-Marie-Tooth disease type B
CMTDIC
Autosomal dominant intermediate Charcot-Marie-Tooth disease type C is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 60 m/s). It presents with moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, feet deformities, extensor digitorum brevis atrophy). Findings in nerve biopsies include age-dependent axonal degeneration, reduced number of large myelinated fibres, segmental remyelination, and no onion bulbs.
Autosomal dominant intermediate Charcot-Marie-Tooth disease type C
CMTDID
Autosomal dominant intermediate Charcot-Marie-Tooth disease type D is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both axonal degeneration and demyelination without onion bulbs in nerve biopsies. It presents with usual Charcot-Marie-Tooth disease clinical features of variable severity (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings in some of the families include debilitating neuropathic pain and mild postural/kinetic upper limb tremor.
Autosomal dominant intermediate Charcot-Marie-Tooth disease type D
Esophageal duplication cyst is a rare, congenital, non-syndromic esophageal malformation, most frequently located in the distal esophagus and usually diagnosed in childhood, characterized by tubular or spherical cystic masses that have a double layer of surrounding smooth muscle lined with squamous or enteric epithelium, are continuous or contiguous to the esophagus and may, or may not, communicate with the esophageal lumen. Patients are frequently asymptomatic, or could present with a wide range of symptoms including respiratory distress, failure to thrive, dysphagia, epigastric discomfort, vomiting, stridor, non-productive cough, and chest pain. Other more rare symptoms, such as cardiac arrhythmia, thoracic back pain, cystic hemorrgage and ulceration, and mediastinitis, have also been reported.
Esophageal duplication cyst
Tubular duplication of the esophagous is a rare congenital malformation where a second structure with individual lumen and stratified squamous mucosa and muscularis mucosa lies within or adjacent to the true esophagus causing dysphagia, nausea, vomiting, retrosternal pain and respiratory problems (stridor and recurrent pneumonia) and usually presenting in children.
Tubular duplication of the esophagus
Primary ILD specific to childhood due to pulmonary surfactant protein anomalies
Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies is a group of interstitial lung diseases (ILD) induced by genetic mutations disrupting surfactant function and gas exchange in the lung. The disorders caused by these mutations affect full-term infants and older children and exhibit considerable overlap in their clinical and histologic presentation.
Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies
HAE 1
HAE-I
Hereditary angioneurotic edema type 1
Hereditary angioedema type 1 (HAE 1) is a form of hereditary angioedema (see this term) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.
Hereditary angioedema type 1
HAE 2
HAE-II
Hereditary angioneurotic edema type 2
Hereditary angioedema type 2 (HAE 2) is a form of hereditary angioedema (see this term) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.
Hereditary angioedema type 2
HAE 3
HAE-III
Hereditary angioneurotic edema type 3
Inherited estrogen-associated angioedema
Inherited estrogen-associated angioneurotic edema
Inherited estrogen-dependent angioedema
Inherited estrogen-dependent angioneurotic edema
Hereditary angioedema type 3 (HAE 3) is a form of hereditary angioedema (see this term) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.
Hereditary angioedema type 3
AAE 2
AAE II
Acquired angioneurotic edema type 2
Acquired angioedema type 2 (AAE2) is a type of acquired angioedema (AAE, see this term) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.
Acquired angioedema type 2
Acquired angioneurotic edema type 1
Acquired angioedema type 1 (AAE 1) is a type of acquired angioedema (AAE) (see this term) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.
Acquired angioedema type 1
RAAS-blocker-induced angioedema
RAAS-blocker-induced angioneurotic edema
RAE
Renin-angiotensin-aldosterone system-blocker-induced angioneurotic edema
Renin-angiotensin-aldosterone system (RAAS)-blocker induced angioedema (RAE) is a type of acquired angioedema (AAE, see this term) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.
Renin-angiotensin-aldosterone system-blocker-induced angioedema
Waterhouse-Friderichsen syndrome
Semantic primary progressive aphasia
Semantic variant PPA
Semantic dementia (SD) is a form of frontotemporal dementia (FTD; see this term), characterized by the progressive, amodal and profound loss of semantic knowledge (combination of visual associative agnosia, anomia, surface dyslexia or dysgraphia and disrupted comprehension of word meaning) and behavioral abnormalities, attributable to the degeneration of the anterior temporal lobes.
Semantic dementia
Agramatic variant of PPA
Agramatic variant of primary progressive aphasia
Non-fluent variant PPA
Progressive non-fluent aphasia (PNFA) is a form of frontotemporal dementia (FTD; see this term), characterized by agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech (AOS). Language comprehension is relatively preserved.
Progressive non-fluent aphasia
Mosaic trisomy chromosome 3
Trisomy 3 mosaicism
Mosaic trisomy 3 is a rare chromosomal anomaly syndrome with high phenotypic variability ranging from a mild phenotype presenting joint pain and laxity, mild facial dysmorphism (e.g. long facies, prominent eyes, dysplastic ears, downturned corners of the mouth, micrognathia) and no developmental delays to more severe phenotypes including short stature, intellectual disability, severe developmental delays, additional craniofacial dysmorphic features (e.g. brachycephaly, high forehead, flat midface, short neck) and hearing impairment, as well as skeletal (e.g. pectus excavatum, scoliosis), ocular (e.g. coloboma) and cardiac abnormalities.
Mosaic trisomy 3
use http://www.orpha.net/ORDO/Orphanet_97330 with label: Thoracic outlet syndrome
OBSOLETE: True vascular thoracic outlet syndrome
NTOS
Neurogenic TOS
Neurogenic cervical rib syndrome
Neurogenic costoclavicular syndrome
Neurogenic thoracic outlet compression syndrome
Neurogenic thoracic outlet syndrome (NTOS) is a form of thoracic outlet syndrome (TOS; see this term) that presents with pain, paresthesias and weakness in an upper extremity and is divided into true NTOS and disputed NTOS.
Neurogenic thoracic outlet syndrome
GNET
Gastric NET
Gastric neuroendocrine tumor
NET of stomach
Gastric neuroendocrine tumor is a rare subtype of neuroendocrine neoplasm, arising from enterochromaffin-like cells in the stomach, with a variable clinical presentation, disease course and prognosis, depending on the disease type and histological grade. Most patients are asymptomatic, with diagnosis usually occurring incidentally during gastroscopy, however, symptoms of dyspepsia, anemia, pain, weight loss and gastrointestinal bleeding can be observed. Association with Zollinger-Ellison syndrome and multiple endocrine neoplasia type I has been reported.
Neuroendocrine tumor of stomach
Duodenal neuroendocrine tumor
Jejunal neuroendocrine neoplasm
Jejunal neuroendocrine tumor is a rare, primary, malignant, epithelial neoplasm of the small intestine arising from enterochromaffin cells in the jejunum. Clinical behavior depends on the histologic grade, but initially it is generally characterized by vague abdominal symptoms (cramping, bloating, diarrhea) with insidious onset, although sometimes it could present with signs of bowel obstruction/perforation or gastrointestinal bleeding. Diagnosis in advanced stages with regional or distant spread is common, but signs of carcinoid syndrome (flushing, sweating, diarrhea) are usually not apparent until hepatic metastasis has occurred.
Jejunal neuroendocrine tumor
Ileal neuroendocrine neoplasm
Ileal neuroendocrine tumor is a rare, primary, malignant, epithelial neoplasm of the small intestine arising from enterochromaffin cells in the ileum (usually the terminal ileum). Clinical behavior depends on the histologic grade, but initially it is generally characterized by vague abdominal symptoms (cramping, bloating, diarrhea) with insidious onset, although sometimes it could present with signs of bowel obstruction/perforation or gastrointestinal bleeding. Diagnosis in advanced stages with regional or distant spread is common, but signs of carcinoid syndrome (flushing, sweating, diarrhea) are usually not apparent until hepatic metastasis has occurred.
Ileal neuroendocrine tumor
Appendiceal NEN
Appendiceal neuroendocrine neoplasm
NEN of appendix
Endocrine tumor of the appendix is the most common sporadic neoplasm of the appendix and the second most common type of digestive endocrine tumor, often with no specific clinical presentation. They are divided into either classic endocrine tumor of the appendix or the more aggressive goblet cell carcinoma (GCC; see these terms).
Neuroendocrine neoplasm of appendix
Colonic NET
NET of the colon
Neuroendocrine neoplasm of the colon
Neuroendocrine tumor of the colon is a rare epithelial tumor of the large intestine, arising from enterochromaffin cells, most commonly in the cecum or ascending colon. The tumor is usually slow-growing and can be diagnosed as an incidental finding in an asymptomatic patient, while in the later stages patients can present with abdominal pain, palpable abdominal mass, changes in bowel habits, signs of bowel obstruction, gastrointestinal bleeding, anorexia, weight loss or, rarely, carcinoid syndrome (facial flushing, diarrhea, tachycardia, hypo- and hypertension, cardiac abnormalities).
Neuroendocrine tumor of the colon
NET of the rectum
Rectal NET
Rectal neuroendocrine tumor
Neuroendocrine tumor of the rectum is a rare epithelial tumor of rectum arising from enterochromaffin cells, most often in the mid-rectum. The tumors are slow growing, in early stages majority are asymptomatic and are diagnosed incidentally. Later in the course, the tumor may present with rectal bleeding, abdominal or rectal pain, tenesmus, changes in bowel habits, or weight loss. In some cases it may present with carcinoid symptoms of flushing and increased gut motility.
Neuroendocrine tumor of the rectum
NET of anal canal
Neuroendocrine tumor of the anal canal is an epithelial tumor of anal canal arising from enterochromaffin cells in the colorectal-type epithelium above the dentate line and in the anal transition zone. The tumors are slow growing and the majority of cases are diagnosed in later advanced stages. It may present with symptoms related to the anatomical location of the tumor (rectal mass, rectal bleeding and pain, tenesmus or changes in bowel habits), symptoms of carcinoid syndrome (flushing and increased gut motility) or nonspecific symptoms of advanced disease (hepatomegaly, fever, weight loss, anorexia, malaise).
Neuroendocrine tumor of anal canal
Laryngeal neuroendocrine tumor
Middle ear neuroendocrine tumor is a rare, otorhinolaryngologic tumor characterized by a mixed glandular and non-glandular histological features and positive immunostaining for pancytokeratin, vimentin, synaptophysin and islet-1 protein. Common signs and symptoms are hearing loss, mass, pain, discharge, equilibrium disturbances, tinnitus and nerve paralysis.
Middle ear neuroendocrine tumor
Primary hepatic neuroendocrine carcinoma (PHNEC) is a rare hepatic tumor that may manifest with abdominal pain or fullness, as well as diarrhea or weight loss. More than 10% of cases are asymptomatic and in rare cases a carcinoid syndrome may be observed.
Primary hepatic neuroendocrine carcinoma
Gallbladder neuroendocrine tumor
Thyroid tumor
Thyroid carcinoma
Rare parathyroid tumor
Adrenal/paraganglial tumor
GEP-NEN
Gastroenteropancreatic neuroendocrine neoplasm
Malignant carcinoid syndrome
Carcinoid syndrome
Multiple polyglandular tumor
Albright hereditary osteodystrophy type 3
Albright hereditary osteodystrophy-like syndrome
Brachydactyly-intellectual disability syndrome
Del(2)(q37)
Deletion 2q37
Deletion 2q37-qter
Monosomy 2q37-qter
Deletion 2q37 or monosomy 2q37 is a chromosomal anomaly involving deletion of chromosome band 2q37 and manifests as three major clinical findings: developmental delay, skeletal malformations and facial dysmorphism.
2q37 microdeletion syndrome
Thymic tumor
Neuroendocrine tumor with other location
Scalp defects-postaxial polydactyly syndrome is characterised by congenital scalp defects and postaxial polydactyly type A.
Scalp defects-postaxial polydactyly syndrome
ACD-intellectual disability syndrome
Alopecia-contractures-dwarfism-intellectual disability syndrome (ACD syndrome) is a form of ectodermal dysplasia syndrome characterized by a short stature of prenatal onset, alopecia, ichthyosis, photophobia, ectrodactyly, seizures, scoliosis, multiple contractures, fusions of various bones (particularly elbows, carpals, metacarpals, and spine), intellectual disability, and facial dysmorphism (microdolichocephaly, madarosis, large ears and long nose). ACD syndrome overlaps with ichthyosis follicularis-alopecia-photophobia syndrome.
Alopecia-contractures-dwarfism-intellectual disability syndrome
Ipp-Gelfand syndrome
Alopecia antibody deficiency is a rare primary immunodeficiency disorder characterized by the association of alopecia areata totalis and antibody deficiency (congenital agammaglobulinemia or incomplete antibody deficiency syndrome), manifesting with recurrent infections. There have been no further descriptions in the literature since 1976.
Alopecia antibody deficiency
Shokeir syndrome
Alopecia-epilepsy-pyorrhea-intellectual disability syndrome is characterized by congenital permanent alopecia universalis, intellectual disability, psychomotor epilepsy and periodontitis (pyorrhea). Total permanent alopecia and pyorrhea are invariably concomitant while intellectual disability and psychomotor epilepsy are observed in most patients. No other abnormality of nails or skin (apart from absence of hair) has been reported. Transmission is autosomal dominant.
Alopecia-epilepsy-pyorrhea-intellectual disability syndrome
ALAD porphyria
Porphyria due to ALAD deficiency
Porphyria due to delta-aminolevulinate dehydratase deficiency
Porphyria of Doss
Porphyria of doss or deficiency of delta-aminolevulinic acid dehydratase (DALAD) is an extremely rare form of acute hepatic porphyria (see this term) characterized by neuro-visceral attacks without cutaneous manifestations.
Porphyria due to ALA dehydratase deficiency
Intellectual disability associated with fragile site FRAXE
FRAXE is a form of nonsyndromic X-linked mental retardation (NS-XLMR) characterized by mild intellectual deficit. FRAXE is the most common form of NS-XLMR.
FRAXE intellectual disability
FRAXF syndrome was originally identified in a family with developmental delay and an expanded CCG repeat at the folate-sensitive FRAXF fragile site. Since this initial description, FRAXF has been associated with a range of manifestations but no clear phenotype has been established.
FRAXF syndrome
BSI
Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis (ARCI; see this term) characterized by the presence of large dark scales in specific areas of the body.
Bathing suit ichthyosis
Benallegue-Lacete syndrome
Cloverleaf skull-asphyxiating thoracic dysplasia is a rare syndromic craniosynostosis characterized by prenatal presentation with cloverleaf skull, micromelia and asphyxiating thoracic dysplasia. Radiologic features include short ribs, horizontal roof of the acetabulum with a rounded median prominence and lateral spurs, deformed long bones with broad metaphyses, and absent ossification of the terminal phalanges. There have been no further descriptions in the literature since 1987.
Cloverleaf skull-asphyxiating thoracic dysplasia syndrome
Autosomal dominant complex HSP
Autosomal dominant complex SPG
Autosomal dominant complicated HSP
Autosomal dominant complicated SPG
Autosomal dominant complicated spastic paraplegia
Autosomal dominant complex spastic paraplegia
Autosomal dominant pure HSP
Autosomal dominant pure SPG
Autosomal dominant uncomplicated HSP
Autosomal dominant uncomplicated SPG
Autosomal dominant uncomplicated spastic paraplegia
Autosomal dominant pure spastic paraplegia
Autosomal recessive complex HSP
Autosomal recessive complex SPG
Autosomal recessive complicated HSP
Autosomal recessive complicated SPG
Autosomal recessive complicated spastic paraplegia
Autosomal recessive complex spastic paraplegia
Autosomal recessive pure HSP
Autosomal recessive pure SPG
Autosomal recessive uncomplicated HSP
Autosomal recessive uncomplicated SPG
Autosomal recessive uncomplicated spastic paraplegia
Autosomal recessive pure spastic paraplegia
Strümpell disease
Autosomal dominant spastic paraplegia type 3 is a rare, pure or complex subtype of hereditary spastic paraplegia, with highly variable phenotype, typically characterized by childhood-onset of minimally progressive, bilateral, mainly symmetric lower limb spasticity and weakness, associated with pes cavus, diminished vibration sense, sphincter disturbances and/or urinary bladder hyperactivity. Additional associated manifestations may include scoliosis, mild intellectual disability, optic atrophy, axonal motor neuropathy and/or distal amyotrophy.
Autosomal dominant spastic paraplegia type 3
SPG4
Autosomal dominant spastic paraplegia type 4 (SPG4) is a form of hereditary spastic paraplegia with high intrafamilial clinical variability, characterized in most cases as a pure phenotype with an adult onset (mainly the 3rd to 5th decade of life, but that can present at any age) of progressive gait impairment due to bilateral lower-limb spasticity and weakness as well as very mild proximal weakness and urinary urgency. In some cases, a complex phenotype is also reported with additional manifestations including cognitive impairment, cerebellar ataxia, epilepsy and neuropathy. A faster disease progression is noted in patients with a later age of onset.
Autosomal dominant spastic paraplegia type 4
SPG5A
Autosomal recessive spastic paraplegia type 5A is a form of hereditary spastic paraplegia characterized by either a pure phenotype of slowly progressive spastic paraplegia of the lower extremities with bladder dysfunction and pes cavus or a complex presentation with additional manifestations including cerebellar signs, nystagmus, distal or generalized muscle atrophy and cognitive impairment. Age of onset is highly variable, ranging from early childhood to adulthood. White matter hyperintensity and cerebellar and spinal cord atrophy may be noted, on brain magnetic resonance imaging, in some patients.
Autosomal recessive spastic paraplegia type 5A
SPG6
Autosomal dominant spastic paraplegia type 6 (SPG6) is a form of hereditary spastic paraplegia which usually presents in late adolescence or early adulthood as a pure phenotype of lower limb spasticity with hyperreflexia and extensor plantar responses, as well as mild bladder disturbances and pes cavus. Rarely, it can present as a complex phenotype with additional manifestations including epilepsy, variable peripheral neuropathy and/or memory impairment.
Autosomal dominant spastic paraplegia type 6
SPG8
Autosomal dominant spastic paraplegia type 8
use http://www.orpha.net/ORDO/Orphanet_100979 with label: Autosomal dominant complex spastic paraplegia
OBSOLETE: Autosomal dominant spastic paraplegia type 9
SPG10
Autosomal dominant spastic paraplegia type 10 (SPG10) is a rare type of hereditary spastic paraplegia that can present as either a pure form of spastic paraplegia with lower limb spasticity, hyperreflexia and extensor plantar responses, presenting in childhood or adolescence, or as a complex phenotype associated with additional manifestations including peripheral neuropathy with upper limb amyotrophy, moderate intellectual disability and parkinsonism. Deafness and retinitis pigmentosa were reported in one case.
Autosomal dominant spastic paraplegia type 10
SPG12
Autosomal dominant spastic paraplegia type 12 is a pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive lower limb spasticity and hyperreflexia of lower extremities, extensor plantar reflexes, distal sensory impairment, variable urinary dysfunction and pes cavus.
Autosomal dominant spastic paraplegia type 12
SPG13
Autosomal dominant spastic paraplegia type 13
SPG14
Autosomal recessive spastic paraplegia type 14 is a rare, complex hereditary spastic paraplegia characterized by adulthood-onset of slowly progressive spastic paraplegia of lower limbs presenting with spastic gait, hyperreflexia, and mild lower limb hypertonicity associated with mild intellectual disability, visual agnosia, short and long-term memory deficiency and mild distal motor neuropathy. Bilateral pes cavus and extensor plantar responses are also associated.
Autosomal recessive spastic paraplegia type 14
Hereditary spastic paraparesis type 15
Kjellin syndrome
SPG15
Spastic paraplegia-retinal degeneration syndrome
Autosomal recessive spastic paraplegia type 15 is a complex form of hereditary spastic paraplegia characterized by a childhood to adulthood onset of slowly progressive lower limb spasticity (resulting in gait disturbance, extensor plantar responses and decreased vibration sense) associated with mild intellectual disability, mild cerebellar ataxia, peripheral neuropathy (with distal upper limb amyotrophy) and retinal degeneration. Thin corpus callosum is a common imaging finding.
Autosomal recessive spastic paraplegia type 15
SPG16
X-linked spastic paraplegia type 16
SPG17
Silver syndrome
Spastic paraplegia-amyotrophy of hands and feet
Autosomal dominant spastic paraplegia type 17
SPG19
Autosomal dominant spastic paraplegia type 19 is a pure form of hereditary spastic paraplegia characterized by a slowly progressive and relatively benign spastic paraplegia presenting in adulthood with spastic gait, lower limb hyperreflexia, extensor plantar responses, bladder dysfunction (urinary urgency and/or incontinence), and mild sensory and motor peripheral neuropathy.
Autosomal dominant spastic paraplegia type 19
DRPLA
Dentatorubropallidoluysian atrophy
Naito-Oyanagi disease
Dentatorubral pallidoluysian atrophy (DRPLA) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by involuntary movements, ataxia, epilepsy, mental disorders, cognitive decline and prominent anticipation.
Dentatorubral pallidoluysian atrophy
Autosomal dominant palmoplantar hyperkeratosis and congenital alopecia
PPK-CA, Stevanovic type
Palmoplantar keratoderma and congenital alopecia, Stevanovic type
Autosomal dominant palmoplantar keratoderma with congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications.
Autosomal dominant palmoplantar keratoderma and congenital alopecia
Childhood-onset spastic paraparesis-distal muscle wasting syndrome
SPG20
Troyer syndrome
gene (13q13.1), which encodes the protein spartin.
Autosomal recessive spastic paraplegia type 20
Mast syndrome
SPG21
Autosomal recessive spastic paraplegia type 21 is a complex type of hereditary spastic paraplegia characterized by an onset in adolescence or adulthood of slowly progressive spastic paraparesis associated with the additional manifestations of apraxia, cognitive and speech decline (leading to dementia and akinetic mutism in some cases), personality disturbances and extrapyramidal (e.g. oromandibular dyskinesia, rigidity) and cerebellar (i.e. dysdiadochokinesia and incoordination) signs. Subtle abnormalities (e.g. developmental delays) may be noted earlier in childhood. A thin corpus callosum and white matter abnormalities are equally reported on magnetic resonance imaging.
Autosomal recessive spastic paraplegia type 21
Lison syndrome
SPG23
Spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome
Autosomal recessive spastic paraplegia type 23 (SPG23) is a rare, complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation, diffuse lentigines), premature graying of hair, and characteristic facies (i.e. thin with ''sharp'' features). The SPG23 phenotype has been mapped to a locus on chromosome 1q24-q32.
Autosomal recessive spastic paraplegia type 23
SPG24
Autosomal recessive spastic paraplegia type 24
Autosomal recessive spastic paraplegia-disc herniation syndrome
SPG25
Autosomal recessive spastic paraplegia type 25 (SPG25) is a rare, complex type of hereditary spastic paraplegia characterized by adult-onset spastic paraplegia associated with spinal pain that radiates to the upper or lower limbs and is related to disk herniation (with minor spondylosis), as well as mild sensorimotor neuropathy. The SPG25 phenotype has been mapped to a locus on chromosome 6q23-q24.1.
Autosomal recessive spastic paraplegia type 25
GM2 synthase deficiency
SPG26
gene (12q13.3), encoding Beta-1, 4 N-acetylgalactosaminyltransferase 1.
Autosomal recessive spastic paraplegia type 26
SPG27
Autosomal recessive spastic paraplegia type 27 is a rare, pure or complex hereditary spastic paraplegia characterized by a variable onset of slowly progressive lower limb spasticity, hyperreflexia and extensor plantar responses, that may be associated with sensorimotor polyneuropathy, decreased vibration sense, lower limb distal muscle wasting, dysarthria and mild to moderate intellectual disability.
Autosomal recessive spastic paraplegia type 27
SPG28
Autosomal recessive spastic paraplegia type 28 is a pure form of hereditary spastic paraplegia characterized by a childhood or adolescent onset of slowly progressive, pure crural muscle spastic paraparesis which manifests with mild lower limb weakness, gait difficulties, extensor plantar responses, and hyperreflexia of lower extremities. Less common manifestations include cerebellar oculomotor disturbance with saccadic eye pursuit, pes cavus and scoliosis. Some patients also present pin and vibration sensory loss in distal legs.
Autosomal recessive spastic paraplegia type 28
SPG29
Autosomal dominant spastic paraplegia type 29 (SPG29) is a complex form of hereditary spastic paraplegia characterized by a spastic paraplegia presenting in adolescence, associated with the additional manifestations of sensorial hearing impairment due to auditory neuropathy and persistent vomiting due to a hiatal or paraesophageal hernia.
Autosomal dominant spastic paraplegia type 29
SPG30
Autosomal spastic paraplegia type 30 is a form of hereditary spastic paraplegia characterized by either a pure spastic paraplegia phenotype, usually presenting in the first or second decade of life, with spastic lower extremities, unsteady spastic gait, hyperreflexia and extensor plantar responses, or as a complicated phenotype with the additional manifestations of distal wasting, saccadic ocular movements, mild cerebellar ataxia and mild, distal, axonal neuropathy.
Autosomal spastic paraplegia type 30
SPG31
30 years). In some cases, it can present as a complex phenotype with additional associated manifestations including peripheral neuropathy, bulbar palsy (with dysarthria and dysphagia), distal amyotrophy, and impaired distal vibration sense.
Autosomal dominant spastic paraplegia type 31
Romano-Ward long QT syndrome
Romano-Ward syndrome (RWS) is an autosomal dominant variant of the long QT syndrome (LQTS, see this term) characterized by syncopal episodes and electrocardiographic abnormalities (QT prolongation, T-wave abnormalities and torsade de pointes (TdP) ventricular tachycardia).
Romano-Ward syndrome
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_2882 with label: Sitosterolemia
Cleft hard palate
TALDO deficiency
Transaldolase deficiency is an inborn error of the pentose phosphate pathway that presents in the neonatal or antenatal period with hydrops fetalis, hepatosplenomegaly, hepatic dysfunction, thrombocytopenia, anemia, and renal and cardiac abnormalities.
Transaldolase deficiency
Sub-cortical nodular heterotopia
Subependymal nodular heterotopia
use http://www.orpha.net/ORDO/Orphanet_708 with label: Peters anomaly
OBSOLETE: Peters anomaly-cataract syndrome
use http://www.orpha.net/ORDO/Orphanet_320317 with label: Cleft lip/palate-ectodermal dysplasia syndrome
EFMR
Juberg-Hellman syndrome
Female restricted epilepsy with intellectual disability is a rare X-linked epilepsy syndrome characterized by febrile or afebrile seizures (mainly tonic-clonic, but also absence, myoclonic, and atonic) starting in the first years of life and, in most cases, developmental delay and intellectual disability of variable severity. Behavioral disturbances (e.g. autistic features, hyperactivity, and aggressiveness) are also frequently associated. This disease affects exclusively females, with male carriers being unaffected, despite an X-linked inheritance.
Female restricted epilepsy with intellectual disability
Familial hypofibrinogenemia is a coagulation disorder characterized by mild bleeding symptoms following trauma or surgery due to a reduced plasma fibrinogen concentration.
Familial hypofibrinogenemia
use http://www.orpha.net/ORDO/Orphanet_99045 with label: Double outlet right ventricle with subpulmonary ventricular septal defect
Aortic valve dysplasia
ADEAF
ADLTE
ADPEAF
Autosomal dominant lateral temporal lobe epilepsy
Partial epilepsy with auditory aura
Partial epilepsy with auditory features
Autosomal dominant epilepsy with auditory features
FHH type 2
Familial hypocalciuric hypercalcemia type 2
FHH type 3
Familial hypocalciuric hypercalcemia type 3
use http://www.orpha.net/ORDO/Orphanet_1083 with label: Microlissencephaly
Complete situs inversus
Complete situs inversus viscerum
Situs inversus
Situs inversus totalis
CSCD
Congenital hereditary stromal dystrophy
Witschel dystrophy
Congenital stromal corneal dystrophy (CSCD) is an extremely rare form of stromal corneal dystrophy (see this term) characterized by opaque flaky or feathery clouding of the corneal stroma, and moderate to severe visual loss.
Congenital stromal corneal dystrophy
Bilateral frontoparietal polymicrogyria (BFPP) is a sub-type of polymicrogyria (PMG; see this term), a cerebral cortical malformation characterized by excessive cortical folding and abnormal cortical layering, that involves the frontoparietal region of the brain and that presents with hypotonia, developmental delay, moderate to severe intellectual disability, pyramidal signs, epileptic seizures, non progressive cerebellar ataxia, dysconjugate gaze and/or strabismus.
Bilateral frontoparietal polymicrogyria
Unilateral hemispheric polymicrogyria
CMT1X
CMTX1
X-linked Charcot-Marie-Tooth disease type 1 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked dominant inheritance pattern and the childhood-onset (within the first decade in males) of progressive, distal, moderate to severe muscle weakness and atrophy in lower extremities and intrinsic hand muscles, pes cavus, bilateral foot drop, reduced or absent tendon reflexes, as well as mild to moderate sensory impairment in lower extremities. Females tend to have milder manifestations or may be asymptomatic. Sensorineural deafness and central nervous system involvement have also been reported.
X-linked Charcot-Marie-Tooth disease type 1
CMTX2
X-linked Charcot-Marie-Tooth disease type 2 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infantile- to childhood-onset of progressive, distal muscle weakness and atrophy (more prominent in the lower extremities than in the upper extremities), pes cavus, and absent tendon reflexes. Sensory impairment and intellectual disability has been reported in some individuals.
X-linked Charcot-Marie-Tooth disease type 2
CMT3X
CMTX3
X-linked Charcot-Marie-Tooth disease type 3 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the childhood- to adolescent-onset of progressive, distal muscle weakness and atrophy (beginning in the lower extremities and then affecting the upper extremities), as well as distal, pansensory loss in the upper and lower extremities, pes cavus, and absent or reduced distal tendon reflexes. Pain and paresthesia are frequently the initial sensory symptoms. Spastic paraparesis (manifested by clasp-knife sign, hyperactive deep-tendon reflexes, and Babinski sign) has also been reported.
X-linked Charcot-Marie-Tooth disease type 3
CMT4X
CMTX4
Cowchock syndrome
X-linked Charcot-Marie-Tooth disease type 4 is a rare, genetic, axonal, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the neonatal- to early childhood-onset of severe, slowly progressive, distal muscle weakness and atrophy (in particular of the peroneal group), as well as sensory impairment (with the lower extremities being more affected than the upper extremities), pes cavus, areflexia and hammertoes. Sensorineural hearing loss and cognitive impairment may also be associated. Females are asymptomatic and do not display the phenotype.
X-linked Charcot-Marie-Tooth disease type 4
CMT1A
Microduplication 17p12
Charcot-Marie-Tooth disease type 1A
CMT1B
age 40), with normal or mildly slowed MNCV and more frequent hearing loss and pupillary abnormalities. CMT1B can also cause the classical CMT phenotype in about 15% of total CMT1B cases.
Charcot-Marie-Tooth disease type 1B
CMT1C
Charcot-Marie-Tooth disease type 1C
CMT1D
gene (10q21.1), with a variable severity and age of onset (from infancy to adulthood), that usually presents with gait abnormalities, progressive wasting and weakness of distal limb muscles, with possible later involvement of proximal muscles, foot deformity and severe reduction in nerve conduction velocity. Additional features may include scoliosis, cranial nerve deficits such as diplopia, and bilateral vocal cord paresis.
Charcot-Marie-Tooth disease type 1D
CMT1F
gene (8p21.2).
Charcot-Marie-Tooth disease type 1F
HIGM1
Hyper-IgM syndrome due to CD40 ligand deficiency
Hyper-IgM syndrome due to CD40L deficiency
Hyper-IgM syndrome type 1
XHIGM
X-linked hyper-IgM syndrome
AID deficiency
Activation-induced cytidine deaminase deficiency
HIGM2
Hyper-IgM syndrome type 2
HIGM3
Hyper-IgM syndrome due to CD40 deficiency
Hyper-IgM syndrome type 3
HIGM4
Hyper-IgM syndrome type 4
HIGM5
Hyper-IgM syndrome due to UNG deficiency
Hyper-IgM syndrome due to uracil N-glycosylase
Hyper-IgM syndrome type 5
Aregenerative anemia
ARCMT2K
Autosomal recessive axonal CMT4C4
Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K
Autosomal recessive Charcot-Marie-Tooth disease with hoarseness (ARCMT2K or CMT4C4) is a severe early-onset form of axonal CMT peripheral sensorimotor polyneuropathy.
Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_3464 with label: Woodhouse-Sakati syndrome
Alopecia-hypogonadism-extrapyramidal syndrome
AR-CMT2B2
Autosomal recessive axonal CMT4C3
Autosomal recessive axonal Charcot-Marie-Tooth disease type 2B2
Charcot-Marie-Tooth disease, type 2B2 (CMT2B2, also referred to as CMT4C3) is an axonal CMT peripheral sensorimotor polyneuropathy that has been described in a large consanguineous Costa Rican family of Spanish ancestry.
Charcot-Marie-Tooth disease type 2B2
AR-CMT2C
Autosomal recessive axonal CMT4C2
Axonal Charcot-Marie-Tooth disease with pyramidal involvement
CMT2H
Charcot-Marie-Tooth disease, type 2H (CMT2H, also referred to as CMT4C2) is an axonal CMT peripheral sensorimotor polyneuropathy associated with pyramidal involvement.
Charcot-Marie-Tooth disease type 2H
Marin-Amat syndrome
Non-secreting chemodectoma
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_98772 with label: Spinocerebellar ataxia type 19/22
SCA23
Spinocerebellar ataxia type 23 (SCA23) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia.
Spinocerebellar ataxia type 23
SCA28
Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration.
Spinocerebellar ataxia type 28
SCA20
Spinocerebellar ataxia type 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar dysarthria as the initial typical manifestation.
Spinocerebellar ataxia type 20
SCA25
Spinocerebellar ataxia type 25 (SCA25) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia and prominent sensory neuropathy.
Spinocerebellar ataxia type 25
SCA26
Spinocerebellar ataxia type 26 (SCA26) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III; see this term) characterized by late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities.
Spinocerebellar ataxia type 26
Autosomal recessive Segawa syndrome
DYT5b
Tyrosine hydroxylase deficiency
Tyrosine hydroxylase-deficient dopa-responsive dystonia
Autosomal recessive dopa-responsive dystonia (DYT5b) is a very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD) to progressive infantile encephalopathy.
Autosomal recessive dopa-responsive dystonia
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_98808 with label: Autosomal dominant dopa-responsive dystonia
APV/ADA, Fallot type
Absence of pulmonary valve-Fallot tetralogy-absence of ductus arteriosus syndrome
PVA/ADA, Fallot type
Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome is a rare congenital heart malformation characterized by a tetralogy of Fallot (pulmonary stenosis, overriding aorta, ventricular septal defect and right ventricular hypertrophy), complete absence or rudimentary pulmonary valve that is both stenotic and regurgitant and an absence of the ductus arteriosus. It presents prenatally with cardiomegaly, polyhydramnios, fetal heart failure, hydrops fetalis and fetal demise or postnatally with cyanosis and respiratory failure due to bronchomalacia secondary to bronchial compression from dilated pulmonary arteries. It is frequently associated with 22q11 deletion.
Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome
PCT
Porphyria cutanea tarda (PCT) is the most common form of chronic hepatic porphyria (see this term). It is characterized by bullous photodermatitis.
Porphyria cutanea tarda
African tick typhus
use http://www.orpha.net/ORDO/Orphanet_83313 with label: Boutonneuse fever
Familial isolated congenital asplenia is a rare, non-syndromic, potentially life-threatening visceral malformation characterized by the absence of normal spleen function, resulting in a primary immunodeficiency. Typically, the condition manifests with severe, recurrent, overwhelming infections (especially pneumococcal sepsis) in otherwise apparently healthy infants. In adults with no history of severe sepsis in infancy, thrombocytosis may be the presenting sign. Howell-Jolly bodies on blood smears and an absent spleen on abdominal ultrasound examination are highly suggestive associated findings.
Familial isolated congenital asplenia
Devriendt-Vandenberghe-Fryns syndrome
This syndrome is characterized by the association of total alopecia (present at birth), mild intellectual deficit and hypergonadotropic hypogonadism.
Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome
Rare urogenital disease
Rare genetic ophthalmologic disease
Rare genetic eye disease
Rare NSID
Rare non-syndromic intellectual disability is a rare, hereditary, neurologic disease characterized by early-onset cognitive impairment as a sole disability. The disease may be associated with autism, epilepsy and neuromuscular deficits.
Rare non-syndromic intellectual disability
Xq22.3 microdeletion syndrome
The association of X-linked Alport syndrome with leiomyomatosis of the esophagus, tracheobronchial tree or female genitals has been reported in more than 30 families.
X-linked diffuse leiomyomatosis-Alport syndrome
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_182050 with label: MYH9-related disease
Anomaly of the mitral subvalvular apparatus
Genetic cardiac rhythm disease
Rare gastroesophageal disease
Rare pancreatic disease
Rare vascular liver disease
Rare parenchymal liver disease
Rare metabolic liver disease
Rare biliary tract disease
Rare hepatic and biliary tract tumor
Rare pulmonary disease
Rare bronchopulmonary tumor
use http://www.orpha.net/ORDO/Orphanet_97966 with label: Rare ophthalmic disorder
Rare eye tumor
Rare diabetes mellitus
Rare dyslipidemia
Rare adrenal disease
Rare thyroid disease
Polyendocrinopathy
Pituitary deficiency
Primary adrenal insufficiency
CPAI
Chronic adrenocorticoid insufficiency
Chronic primary adrenal insufficiency (CPAI) is a chronic disorder of the adrenal cortex resulting in the inadequate production of glucocorticoid and mineralocorticoid hormones.
Chronic primary adrenal insufficiency
Genetic chronic primary adrenal insufficiency
Acquired chronic primary adrenal insufficiency
Combined T and B cell immunodeficiency
Immunodeficiency predominantly affecting antibody production
use http://www.orpha.net/ORDO/Orphanet_101977 with label: Immunodeficiency predominantly affecting antibody production
OBSOLETE: Disease with severe reduction in all serum immunoglobulin isotypes with profoundly decreased or absent B cells
use http://www.orpha.net/ORDO/Orphanet_331232 with label: Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells
OBSOLETE: Disease with isotype or light chain deficiencies with normal numbers of B cells
use http://www.orpha.net/ORDO/Orphanet_331240 with label: Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells
OBSOLETE: Disease with severe reduction in serum IgA and IgG with normal/elevated IgM and normal numbers of B cells
Quantitative and/or qualitative congenital phagocyte defect
Constitutional neutropenia
Primary immunodeficiency due to a defect in innate immunity
Immunodeficiency due to a complement cascade protein anomaly
Periodic fever syndrome
Primary immunodeficiency
Rare epilepsy
MSA
Multisystem atrophy
Multiple system atrophy (MSA) is a neurodegenerative disorder characterized by autonomic failure (cardiovascular and/or urinary), parkinsonism, cerebellar impairment and corticospinal signs with a median survival of 6-9 years.
Multiple system atrophy
EOFAD
Early-onset familial autosomal dominant Alzheimer disease
Familial Alzheimer disease
Early-onset autosomal dominant Alzheimer disease (EOAD) is a progressive dementia with reduction of cognitive functions. EOAD presents the same phenotype as sporadic Alzheimer disease (AD) but has an early age of onset, usually before 60 years old.
Early-onset autosomal dominant Alzheimer disease
Medullar disease
Rare ataxia
Rare movement disorder
Brain inflammatory disease
Neurovascular malformation
Lissencephaly type 1
Classic lissencephaly
Other syndrome with lissencephaly as a major feature
Lissencephaly type 3
Pure HSP
Pure SPG
Pure familial spastic paraplegia
Uncomplicated HSP
Uncomplicated SPG
Uncomplicated familial spastic paraplegia
Uncomplicated hereditary spastic paraplegia
Pure hereditary spastic paraplegia
Complex HSP
Complex SPG
Complex familial spastic paraplegia
Complicated HSP
Complicated SPG
Complicated familial spastic paraplegia
Complicated hereditary spastic paraplegia
Complex hereditary spastic paraplegia
Autosomal dominant limb-girdle muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy
Autosomal deletion
Autosomal monosomy
Rickettsiae disease
Rickettsial disease
Spotted fever rickettsiae disease
Spotted fever rickettsiosis
Typhus-group rickettsiae disease
Typhus-group rickettsiosis
HHV-8-related disorder
Human herpesvirus 8-related disorder
use http://www.orpha.net/ORDO/Orphanet_314709 with label: Primary localized amyloidosis
OBSOLETE: Hepatic amyloidosis with intrahepatic cholestasis
Amaurosis hypertrichosis is characterised by severe retinal dystrophy marked by visual impairment and profound photophobia without night blindness. Eye examination suggested a cone-rod type of congenital amaurosis. Trichomegaly, bushy eyebrows with synophyrys, and excessive facial and body hair were also reported. The syndrome has been described in two female cousins both born to consanguineous parents.
Amaurosis-hypertrichosis syndrome
Unexplained periodic fever syndrome
MCA/MR
Multiple congenital anomalies-intellectual disability with or without dysmorphism
Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
MCA/variable MR
Multiple congenital anomalies-variable intellectual disability with or without dysmorphism syndrome
Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
MCA without intellectual disability
Multiple congenital anomalies without intellectual disability with or without dysmorphism
Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
Ambras syndrome
Congenital generalized hypertrichosis, Ambras type is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, that is characterized by the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes. Facial and dental anomalies can also be observed, such as triangular, coarse face, bulbous nasal tip, long palpebral fissures, delayed tooth eruption and absence of teeth.
Congenital generalized hypertrichosis, Ambras type
Rare syndromic intellectual disability
Primary glomerular disease
AML and myelodysplastic syndromes related to alkylating agent
Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent is a subgroup of therapy-related myeloid neoplasms (t-MN), associated with a treatment of an unrelated neoplastic or autoimmune disease with cytotoxic agents, like cyclophosphamid, platins, melphalan and others. The neoplastic cells typically harbor unbalanced aberrations of chromosomes 5 and 7 (monosomy 5/del(5q) and monosomy 7/del(7q)) or a complex karyotype. It usually presents with multilineage dysplasia and cytopenias 5-10 years after exposure, with symptoms related to the degree of bone marrow failure and the corresponding cytopenia (fatigue, bleeding and bruising, recurrent infections, bone pain).
Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent
AML and myelodysplastic syndromes related to topoisomerase type 2 inhibitor
Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor represent a subgroup of therapy-related myeloid neoplasms (t-MN), associated with treatment of an unrelated neoplastic disease with cytotoxic agents, like etoposid, doxorubicin, daunorubicin and others. The neoplastic cells often show rearrangements involving the mixed lineage leukemia gene at 11q23. This subgroup of t-MN is typically associated with overt leukemia, without preceding myelodysplastic syndrome, developing 2-3 years after exposure, presenting with non-specific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement.
Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor
Autosomal recessive amelia is characterised by the absence of the upper limbs and severe underdevelopment of the lower limbs. Minor facial abnormalities (depressed nasal root, upturned nose, infra-orbital creases, prominent cheeks and micrognathia) were also reported. The syndrome has been described in three foetuses born to non consanguineous parents.
Autosomal recessive amelia
AML with t(8;21)(q22;q22) translocation
Acute myeloid leukemia with t(8;21)(q22;q22) translocation
Ameloonychohypohidrotic syndrome
use http://www.orpha.net/ORDO/Orphanet_98671 with label: Hereditary optic neuropathy
Amelogenesis imperfecta-nephrocalcinosis syndrome
Amelogenesis imperfecta-nephrocalcinosis, also called enamel-renal syndrome, is an extremely rare syndrome which is characterized by hypoplastic amelogenesis imperfecta (hypoplastic dental enamel) and nephrocalcinosis (precipitation of calcium salts in renal tissue). Oral manifestations include yellow and misshaped teeth, delayed tooth eruption, and intrapulpal calcifications. Nephrocalcinosis is often asymptomatic but can progress during late childhood or early adulthood to impaired renal function (e.g. recurrent urinary infections and renal tubular acidosis), and rarely to end-stage renal failure.
Enamel-renal syndrome
Hyperdibasic aminoaciduria, type 1 is characterised by increased renal clearance of lysine, ornithine and arginine, in the presence of normal concentrations of cystine. Heterozygous individuals are asymptomatic but homozygotes display intellectual deficit. To date, 25 heterozygotes and one homozygote have been reported.
Hyperdibasic aminoaciduria type 1
use http://www.orpha.net/ORDO/Orphanet_498461 with label: Terminal transverse limb defect
3-mercaptopyruvate sulfurtransferase deficiency
Ampola syndrome
MCDU
Beta-mercaptolactate cysteine disulfiduria
AMC
Multiple congenital arthrogryposis
Arthrogryposis multiplex congenita (AMC) is a group of disorders characterized by congenital limb contractures. It manifests as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. AMC is always associated with decreased intrauterine fetal movement which leads secondarily to the contractures.
Arthrogryposis multiplex congenita
Maltase-glucoamylase deficiency
This syndrome is characterised by chronic diarrhoea in infancy or childhood in association with intestinal glucoamylase deficiency.
Chronic diarrhea due to glucoamylase deficiency
Na-H exchange deficiency
Congenital sodium diarrhea is characterized by severe watery diarrhea containing high concentrations of sodium, hyponatremia and metabolic acidosis.
Congenital sodium diarrhea
Isolated trehalose intolerance
This syndrome is characterised by diarrhoea and vomiting after ingestion of trehalose, a disaccharide found mainly in mushrooms.
Trehalase deficiency
Congenital enterocyte heparan sulphate deficiency is characterised by massive enteric protein loss, secretory diarrhoea, and intolerance to enteral feeds during the first few weeks of life.
Congenital enterocyte heparan sulfate deficiency
OBSOLETE: Epithelio-exfoliative colitis-deafness syndrome
use http://www.orpha.net/ORDO/Orphanet_100025 with label: Alpha-heavy chain disease
OBSOLETE: Immunoproliferative small intestinal disease
use http://www.orpha.net/ORDO/Orphanet_522043 with label: Syndromic autoimmune enteropathy
TCP
Tropical calcific chronic pancreatitis
Tropical pancreatitis is a rare pancreatic disease of juvenile onset occurring mainly in tropical developing countries and characterized by chronic non-alcoholic pancreatitis manifesting with abdominal pain, steatorrhea and fibrocalculous pancreatopathy (see this term). It is also commonly associated with the development of pancreatic calculi and pancreatic cancer at a much higher frequency than seen in ordinary chronic pancreatitis.
Tropical pancreatitis
AIP
Autoimmune pancreatitis (AIP) is a rare pancreatic disease characterized by chronic non-alcoholic pancreatitis that presents with abdominal pain, steatorrhea, obstructive jaundice and responds well to steroid therapy and is seen in two subforms: type 1 AIP (see this term) which affects elderly males, involves other organs and has increased immunoglobin G4 (IgG4) levels and type 2 AIP (see this term) which affects both sexes equally but presents at a younger age and has no other organ involvement or increased IgG4 levels.
Autoimmune pancreatitis
Underterminate colitis designates a rare inflammatory bowel disease that clinically resembles Crohns disease and ulcerative colitis (see these terms) but that cannot be diagnosed as one of them after examination of an intestinal resection specimen.
Undetermined colitis
LHON
Leber optic atrophy
Leber's hereditary optic neuropathy (LHON) is a mitochondrial neurodegenerative disease affecting the optic nerve and often characterized by sudden vision loss in young adult carriers.
Leber hereditary optic neuropathy
Maroteaux-Verloes-Stanescu syndrome
Regressive metaphyseal dysplasia
Metaphyseal anadysplasia is a very rare form of metaphyseal dysplasia characterized by short stature, rhizomelic micromelia and a mild varus deformity of the legs evident from the first months of life, that is associated with radiological features of severe metaphyseal changes (irregularities, widening and marginal blurring) in long bones, most prominent in proximal femurs, and generalized osteopenia, and that usually spontaneously resolves by the age of three years. Severe autosomal dominant and milder recessive variants have been observed.
Metaphyseal anadysplasia
Congenital intestinal transport defect
Intestinal disease due to vitamin absorption anomaly
Intestinal disease due to fat malabsorption
Congenital intestinal disease due to an enzymatic defect
Congenital enteropathy involving intestinal mucosa development
Short bowel syndrome is an intestinal failure due to either a congenital defect, intestinal infarction or extensive surgical resection of the intestinal tract that results in a functional small intestine of less than 200cm in length and is characterized by diarrhea, nutrient malabsoption, bowel dilation and dysmobility.
Short bowel syndrome
Rare disease involving intestinal motility
Intestinal polyposis syndrome
Rare intestinal tumor
Rare tumor of bowel
Rare tumor of intestine
Rare inflammatory bowel disease
Metabolic disease with intestinal involvement
Adenocarcinoma of the small bowel
Small bowel adenocarcinoma (SBA) is a rare small intestinal malignancy, most commonly located in the duodenum (55% of cases) but also rarely in the jejunum and ileum, which is usually discovered at an advanced stage in the 6th to 7th decade of life due to non-specific symptoms at presentation such as nausea, abdominal pain and weight loss. In some cases it is asymptomatic, and therefore usually has a poor prognosis.
Adenocarcinoma of the small instestine
Small bowel leiomyosarcoma is a rare type of small bowel malignancy, originating in the smooth muscle cells within the muscularis propria or the muscularis mucosa, most often found in the jejunum, and presenting with gastrointestinal bleeding and anemia and sometimes with other non-specific symptoms such as vomiting, nausea, abdominal pain and weakness and spreading to regional lymph nodes in 14% of cases.
Leiomyosarcoma of small intestine
Myopathic intestinal pseudoobstruction
Unclassified intestinal pseudoobstruction
Fetal anasarca
Fetal hydrops
Generalized fetal edema
Hydrops fetalis is a severe and challenging fetal condition usually defined as the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities that manifests as edema, pleural and pericardial effusion and ascites. It is the end-stage of a wide variety of disorders. The cause may be immunologic (immune hydrops fetalis, IHF) or non immunologic (non-immune hydrops fetalis, NIHF), depending on the presence or absence of maternal antibodies against fetal red cell antigens (ABO incompatibility or rhesus (Rh) incompatibility).
Hydrops fetalis
use http://www.orpha.net/ORDO/Orphanet_98369 with label: Rare constitutional hemolytic anemia due to an enzyme disorder
OBSOLETE: Anemia due to adenosine triphosphatase deficiency
Water-West syndrome
Waters-West syndrome is characterized by the association of lethal non-spherocytic, non-immune hemolytic anemia with abnormalities of the external genitalia (micropenis and hypospadias), flat occiput, dimpled earlobes, deep plantar creases, and increased space between the first and second toes. It has been described only once in two brothers who died a few hours after birth. The second-born infant had massive ascites and hepatosplenomegaly. The mother had two spontaneous abortions (at 6 and 12 weeks gestation) but gave birth to a normal girl, suggesting an autosomal or X-linked recessive mode of inheritance. Although the parents were not known to be consanguineous, they shared a French-Canadian and American Indian ethnic origin.
Lethal hemolytic anemia-genital anomalies syndrome
Sideroblastic anemias (SA) are a group of rare heterogeneous inherited or acquired bone marrow disorders, isolated or part of a syndrome, characterized by decreased hemoglobin synthesis, because of defective use of iron (although plasmatic iron levels may be normal or elevated) and the presence of ringed sideroblasts in the bone marrow due to the pathologic iron overload in mitochondria as visualized by Perls' staining. The group encompasses (idiopathic) acquired sideroblastic anemia and constitutional sideroblastic anemias (see these terms). The latter include syndromic sideroblastic anemias such as Pearson syndrome, mitochondrial mypathy and sideroblastic anemias, x-linked sideroblastic anemia-ataxia, thiamine responsive megaloblastic anemia syndrome and nonsyndromic sideroblastic anemias comprising x-linked and autosomal recessive sideroblastic anemias (see these terms).
Sideroblastic anemia
Anencephaly is a neural tube defect. This malformation is characterized by the total or partial absence of the cranial vault and the covering skin, the brain being missing or reduced to a small mass. Most cases are stillborn, although some infants have been reported to survive for a few hours or even a few days.
Isolated anencephaly/exencephaly
Urethral atresia
Atresia of the urethra is a rare congenital bladder outlet obstruction, a fetal lower urinary tract obstruction (fetal LUTO), that is usually fatal. Unless there is some other egress for the urine to escape the bladder, such as patent urachus or anuro-rectal communication, these lesions are not compatible with renal development.
Atresia of urethra
Corneal anesthesia-deafness-intellectual disability syndrome
Ramos-Arroyo syndrome (RAS) is a very rare genetic disorder characterized by corneal anesthesia, retinal abnormalities, bilateral hearing loss, distinct facies, patent ductus arteriosus, Hirschsprung disease (see these terms), short stature, and intellectual disability.
Ramos-Arroyo syndrome
Warburton-Anyane-Yeboa syndrome
Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition.
Mosaic variegated aneuploidy syndrome
Vein of Galen arteriovenous malformations
Vein of Galen aneurysmal malformation (VGAM) is a congenital vascular malformation characterized by dilation of the embryonic precursor of the vein of Galen. It is a sporadic lesion that occurs during embryogenesis.
Vein of Galen aneurysm
Sinus of Valsalva aneurysm (SVA) is a rare congenital heart malformation of one or more of the aortic sinuses, consisting of a dilation that when unruptured is usually asymptomatic but when ruptured presents with progressive exertional dyspnea, fatigue, chest pain and that can lead to congestive heart failure if left untreated.
Aneurysm of sinus of Valsalva
use http://www.orpha.net/ORDO/Orphanet_285014 with label: Rare disease with thoracic aortic aneurysm and aortic dissection
OBSOLETE: Intracranial aneurysms-multiple congenital anomalies syndrome
BRBN
Bean syndrome
Blue rubber bleb nevus (BRBNS) is a rare vascular malformation disorder with cutaneous and visceral lesions frequently associated with serious, potentially fatal bleeding and anemia.
Blue rubber bleb nevus
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_528 with label: Berardinelli-Seip congenital lipodystrophy
Systemic cystic angiomatosis-Seip syndrome
Hereditary neurocutaneous angioma is characterised by the association of cerebral and cutaneous angiomatous lesions. It has been described in less than 10 families. Clinical manifestations of the cerebral lesions include epilepsy, cerebral haemorrhage, and focal neurological deficit. Transmission is autosomal dominant.
Hereditary neurocutaneous malformation
Nakagawa angioblastoma
Tufted angioma is a very rare, benign, cutaneous, slow-growing, vascular tumor mostly developing in infancy or early childhood.
Tufted angioma
Sommer-Rathbun-Battles syndrome
Aniridia - renal agenesis - psychomotor retardation is an extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma (see these terms), telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis (see this term) and mild psychomotor delay. There have been no further descriptions in the literature since 1974.
Aniridia-renal agenesis-psychomotor retardation syndrome
Gillespie syndrome
Aniridia-cerebellar ataxia-intellectual disability syndrome, also known as Gillespie syndrome, is a rare, congenital, neurological disorder characterized by the association of partial bilateral aniridia with non-progressive cerebellar ataxia, and intellectual disability.
Aniridia-cerebellar ataxia-intellectual disability syndrome
Aniridia - ptosis - intellectual disability - familial obesity is an extremely rare syndrome described in three members of a family (a mother and her two children) that is characterized by the association of various ocular abnormalities (partial or complete aniridia, ptosis, pendular nystagmus, corneal pannus, , persistent pupillary membrane, lenticular opacities, foveal hypoplasia, and low visual acuity) with various systemic anomalies including intellectual disability and obesity in the two children, and alopecia, cardiac abnormalities, and frequent spontaneous abortion in the mother. There have been no further descriptions in the literature since 1986.
Aniridia-ptosis-intellectual disability-familial obesity syndrome
Walker-Dyson syndrome
Aniridia-intellectual disability syndrome is an extremely rare autosomal dominant developmental defect of the eye described in several members of one family that is characterized by the association of moderate intellectual disability with aniridia, lens dislocation, optic nerve hypoplasia (see this term) and cataracts. There have been no further descriptions in the literature since 1974.
Aniridia-intellectual disability syndrome
Aniridia-absent patella is a syndrome described in three members of a family (a boy, his father, and his paternal grandmother) that is characterized by the association of aniridia with patella aplasia or hypoplasia (see these terms). The grandmother also had bilateral cataracts and glaucoma. There have been no further descriptions in the literature since 1975.
Aniridia-absent patella syndrome
Branchiootorenal syndrome
Branchiootorenal (BOR) syndrome is characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts).
BOR syndrome
, present in fish or cephalopods. Following its penetration in the human gastrointestinal tract, the parasite can cause gastrointestinal classified as acute (manifesting as abdominal pain, diarrhea, nausea and vomiting), chronic, or ectopic reactions or allergic manifestations (urticaria, angioedema, anaphylactic shock).
Anisakiasis
AEC syndrome
Hay-Wells syndrome
Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is an ectodermal dysplasia syndrome (see this term) with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate.
Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
Ankyloblepharon filiforme adnatum-cleft palate syndrome is a rare, syndromic, developmental defect of the eye malformation characterized by unilateral or bilateral, single or multiple, filiforme bands of elastic tissue which connect the eyelid margins at the grey line, associated with cleft lip and palate. Eye examination is otherwise normal.
Ankyloblepharon filiforme adnatum-cleft palate syndrome
Aughton-Hufnagle syndrome
Ankyloblepharon filiforme adnatum-imperforate anus syndrome is an extremely rare developmental defect during embryogenesis malformation syndrome characterized by bands of extensile tissue connecting the margins of the upper and lower eyelids, in association with anal atresia. Patients may additionally present cleft palate, hydrocephalus and meningomyelocele. There have been no further descriptions in the literature since 1993.
Ankyloblepharon filiforme adnatum-imperforate anus syndrome
Ankylosis of teeth
Dental ankylosis is a rare disorder characterized by the fusion of the tooth to the bone, preventing both eruption and orthodontic movement.
Dental ankylosis
Piussan-Lenaerts-Mathieu syndrome
Thumb stiffness-brachydactyly-intellectual disability syndrome is characterized by intellectual deficit, mild dysmorphism, type A brachydactylia, signs of obesity and ankylosis of both thumbs. It has been reported in several females from one family (a girl and her mother, her grandmother and probably also her sister and her great-aunt), as well as in an isolated case.
Thumb stiffness-brachydactyly-intellectual disability syndrome
and characterized by a febrile illness and hemolytic anemia but with manifestations ranging from an asymptomatic infection to a fulminating illness that can result in death.
Babesiosis
Coronary artery congenital malformation
Microlissencephaly describes a heterogenous group of a rare cortical malformations characterized by lissencephaly in combination with severe congenital microcephaly, presenting with spasticity, severe developmental delay, and seizures and with survival varying from days to years.
Microlissencephaly
Isolated lissencephaly type 1 without known genetic defects belongs to the genetically heterogeneous group, classic lissencephaly (see this term). It is a diagnosis of exclusion, when neither associated malformations nor family history are present, and in the absence of mutations of genes known to be involved in classic lissencephaly. Clinically patients present with the common features of classic lissencephaly such as developmental delay, intellectual disability, and seizures.
Isolated lissencephaly type 1 without known genetic defects
use http://www.orpha.net/ORDO/Orphanet_102284 with label: Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
OBSOLETE: Short stature-heart defect-craniofacial anomalies syndrome
Non-syndromic esophageal malformation
Syndromic esophageal malformation
Non-syndromic gastroduodenal malformation
Syndromic gastroduodenal malformation
Non-syndromic intestinal malformation
Syndromic intestinal malformation
Non-syndromic visceral malformation
Syndromic visceral malformation
Non-syndromic diaphragmatic or abdominal wall malformation
Syndromic diaphragmatic or abdominal wall malformation
Non-syndromic central nervous system malformation
Syndrome with a central nervous system malformation as major feature
Non-syndromic respiratory or mediastinal malformation
Syndromic respiratory or mediastinal malformation
Rare anemia
Rare disorder due to toxic effects
BRRS
Myhre-Riley-Smith syndrome
Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis.
Bannayan-Riley-Ruvalcaba syndrome
Arthrogryposis syndrome
Syndrome with limb malformations as a major feature
Non-syndromic limb malformation
Teebi-Kaurah syndrome
Anonychia-microcephaly syndrome is a multiple congenital anomaly disorder characterized by anonychia congenita totalis and microcephaly, and normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and widely-spaced teeth.
Anonychia-microcephaly syndrome
49,XXXXX syndrome
Penta-X
Poly-X
Pentasomy X is a sex chromosome anomaly caused by the presence of three extra X chromosomes in females (49,XXXXX instead of 46,XX).
Pentasomy X
BBS
Bardet-Biedl syndrome (BBS) is a ciliopathy with multisystem involvement.
Bardet-Biedl syndrome
Cassia Stocco dos Santos syndrome
Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome is a multiple congenital anomalies syndrome, reported in the offsprings of a consanguineous couple and characterized by multiple congenital skeletal (dolichocephaly, skull asymmetry, camptodactyly, clubfoot), muscular (muscle hypoplasia), ocular (anophthalmia, buphthalmos, retinal detachment, aniridia (see this term)) and cardiac (prolapse of tricuspid valves, mitral and tricuspid insufficiency) abnormalities. An autosomal recessive inheritance with variable expressivity was suspected. There have been no further descriptions in the literature since 1992.
Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_3157 with label: Septo-optic dysplasia spectrum
Anophthalmia-hypothalamo-pituitary insufficiency syndrome
Fryns microphthalmia syndrome
Microphthalmia with facial clefting
Anophthalmia plus syndrome is a very rare multiple congenital anomaly syndrome characterized by the presence of anophthalmia or severe microphthalmia, cleft lip/palate, facial cleft and sacral neural tube defects, along with various additional anomalies including congenital glaucoma, iris coloboma, primary hyperplastic vitreous, hypertelorism, low-set ears, clinodactyly, choanal atresia/stenosis, dysgenesis of sacrum, tethering of spinal cord, syringomyelia, hypoplasia of corpus callosum, cerebral ventriculomegaly and endocrine abnormalities. An autosomal recessive inheritance has been suggested.
Anophthalmia plus syndrome
Anophthalmia-syndactyly syndrome
OAS
Ophthalmoacromelic syndrome
Waardenburg anophthalmia syndrome
Microphthalmia with limb anomalies, also known as ophthalmo-acromelic syndrome (OAS), is a rare developmental disorder characterized by bilateral microphthalmia or anophthalmia, synostosis, syndactyly, oligodactyly and/or polydactyly.
Microphthalmia with limb anomalies
3-methylglutaconic aciduria type 2
BTHS
Cardioskeletal myopathy with neutropenia and abnormal mitochondria
Cardioskeletal myopathy-neutropenia syndrome
MGA2
X-linked cardioskeletal myopathy and neutropenia
Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria.
Barth syndrome
Aortic arch anomaly-peculiar facies-intellectual disability syndrome is a developmental anomaly characterized at birth by the presence of right-sided aortic arch, craniofacial dysmorphism (microcephaly, asymmetric, facial bones, broad forehead, borderline hypertelorism, nasal septum deviation, large nasal cavity, large, posteriorly rotated ears, and microstomia with downturned corners), and intellectual disability. These features were observed in 4 members of one family, involving 2 successive generations, suggesting an autosomal dominant mode of transmission. There have been no further descriptions in the literature since 1968.
Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome
Johnson-Munson syndrome
Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome is an extremely rare congenital limb malformation syndrome, described in only 3 patients to date,characterized by the association of hypoplasia or aplasia of the hand and foot phalanges, hemivertebrae and various urogenital and/or intestinal abnormalities (i.e. dysgenesis of the urogenital tract and rectum). There have been no further descriptions in the literature since 1991.
Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome
Aphalangy-syndactyly-microcephaly is an extremely rare malformation syndrome characterized by the association of partial distal aphalangia with syndactyly, duplication of metatarsal IV, microcephaly, and mild intellectual disability.
Aphalangy-syndactyly-microcephaly syndrome
Aplasia cutis congenita (ACC) is a rare skin disorder characterized by localized absence of skin that is usually located on the scalp but can occur anywhere on the body including the face, trunk and extremities. ACC may occasionally be associated with other anomalies.
Aplasia cutis congenita
Recessive aplasia cutis congenita of limbs is an extremely rare variant of aplasia cutis congenita (ACC; see this term) characterized by the congenital absence of skin on the upper and/or lower limbs, with these lesions usually healing spontaneously resulting in a hypotrichotic scar. Recessive ACC of limbs may be associated with junctional epidermolysis bullosa (see this term). The inheritance was hypothesized to be autosomal recessive. There have been no further descriptions in the literature since 1980.
Recessive aplasia cutis congenita of limbs
Autosomal recessive aplasia cutis
Bronspiegel-Zelnick syndrome
Aplasia cutis congenita-intestinal lymphangiectasia syndrome is an extremely rare association syndrome, described in only two brothers to date (one of which died at 2 months of age), characterized by aplasia cutis congenita of the vertex and generalized edema (as well as hypoproteinemia and lymphopenia) due to intestinal lymphangiectasia. There have been no further descriptions in the literature since 1985.
Aplasia cutis congenita-intestinal lymphangiectasia syndrome
Gershoni-Baruch-Leibo syndrome
Aplasia cutis-myopia syndrome is characterised by the association of aplasia cutis congenita with high myopia, congenital nystagmus and cone-rod dysfunction. It has been described in two siblings (brother and sister). Transmission is autosomal dominant.
Aplasia cutis-myopia syndrome
Fibular aplasia-ectrodactyly syndrome is characterized by fibular aplasia and ectrodactyly. Less than 50 familial and sporadic cases have been reported in the literature. Shortening of the femur, a curved tibia, severe foot anomalies and pathologies of the hip, knee and ankle may also be present. The disorder is probably inherited as an autosomal dominant trait, with reduced penetrance, especially in females.
Fibular aplasia-ectrodactyly syndrome
Renal tubular normotensive hypokalemic alkalosis with hypercalciuria
Salt-losing tubular disorder, Henle's loop type
Salt-wasting tubulopathy, Henle's loop type
Bartter syndrome is a group of rare renal tubular disease characterized by impaired salt reabsorption in the thick ascending limb of Henle's loop and clinically by the association of hypokalemic alkalosis, hypercalciuria/nephrocalcinosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II.
Bartter syndrome
Mardini-Nyhan syndrome
Lung agenesis - heart defect - thumb anomalies is a very rare syndrome characterized by unilateral complete or partial lung agenesis, congenital cardiac defects and ipsilateral thumb anomalies.
Lung agenesis-heart defect-thumb anomalies syndrome
Radial deficiency-tibial hypoplasia syndrome is a rare, genetic dysostosis syndrome with combined reduction defects of upper and lower limbs characterized by bilateral radial aplasia, absent thumbs and bilateral tibial hypo/aplasia. Additional bone anomalies (including partial toe hypo/aplasia, short fibula and clubhand) may be associated. There have been no further descriptions in the literature since 1996.
Radial deficiency-tibial hypoplasia syndrome
Ulnar hypoplasia-lobster-claw deformity of feet syndrome
Van den Berghe-Dequecker syndrome
Ulnar hypoplasia-split foot syndrome is characterised by the association of severe ulnar hypoplasia, absence of fingers two to five, and split-foot. It has been described in four males belonging to two generations of the same family. X-linked recessive inheritance is suggested, but autosomal dominant transmission cannot be excluded.
Ulnar hypoplasia-split foot syndrome
Lynch-Lee-Murday syndrome
Caudal appendage-deafness syndrome is characterized by caudal appendage, short terminal phalanges, deafness, cryptorchidism, intellectual deficit, short stature and dysmorphism. It has been described in monozygotic twin boys.
Caudal appendage-deafness syndrome
Oculomotor apraxia, Cogan type
gene involved in nephronophthisis, may be associated with ocular motor apraxia, Cogan type.
Ocular motor apraxia, Cogan type
Aprosencephaly cerebellar dysgenesis
Kosztolanyi syndrome
Arachnodactyly - abnormal ossification - intellectual disability is a multiple congenital developmental anomalies syndrome characterized by arachnodactyly of fingers and toes associated with craniofacial dysmorphism (including abnormal cranial ossification, frontal bossing, flat calvaria, shallow deformed orbits resulting in exophtalmos, midface hypoplasia and micrognathia), feeding difficulties in infancy, infantile muscular hypotonia, and developmental delay leading to intellectual disability.
Arachnodactyly-abnormal ossification-intellectual disability syndrome
BDCS
Follicular atrophoderma and basal cell carcinomas
Bazex-Dupré-Christol syndrome is a rare genodermatosis with a predisposition to early-onset basal cell carcinomas.
Bazex-Dupré-Christol syndrome
De Die-Smulders-Vles-Fryns syndrome
Arachnodactyly-intellectual disability-dysmorphism syndrome is characterized by moderate intellectual deficit, brachycephaly, typical facies (thin lips and microstomia), ectomorphic habitus with extremely long, thin fingers and toes, and hypoplastic external genitalia. It has been described in three patients.
Arachnodactyly-intellectual disability-dysmorphism syndrome
Mandibulofacial dysostosis, Toriello type
X-linked branchial arch syndrome
X-linked mandibulofacial dysostosis with limb anomalies
X-linked mandibulofacial dysostosis is an extremely rare multiple congenital abnormality syndrome that is characterized by microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and learning disability. Occasionally, additional features have been observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum.
X-linked mandibulofacial dysostosis
Aortic arch defects
Acrorenal defect-ectodermal dysplasia-diabetes syndrome
AREDYLD stands for acral-renal-ectodermal-dysplasia-lipoatrophic-diabetes. This syndrome has been described in three individuals, one of whom was born to consanguineous parents. All patients had lipoatrophy, diabetes mellitus, generalized hypotrichosis, ectodermal dysplasia, renal alterations, dental abnormalities and other manifestations. It is probably transmitted as an autosomal recessive trait.
AREDYLD syndrome
Isolated nose agenesis
Arrhinia is an extremely rare, major congenital malformation consisting of an absence of the nose ranging from hyporrhinia (absence of external nasal structures) to total arrhinia (absence of external nose, nasal airways, olfactory bulbs, or olfactory nerve) often causing respiratory distress and requiring surgical correction. Arrhinia can be bilateral or unilateral (hemiarrhinia). Associated anomalies include ocular features (hypertelorism, microphthalmia, eyelid coloboma), facial clefts, midline defects and microtia.
Isolated arrhinia
Arhinia-choanal atresia-microphthalmia is a malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.
Arrhinia-choanal atresia-microphthalmia syndrome
Arnold-Chiari malformation type 2
Chiari malformation type 2
Chiari malformation type II
Arnold-Chiari malformation type II is a rare, central nervous system malformation characterized by caudal displacement of the cerebellum, pons, medulla and fourth ventricle through the foramen magnum into the spinal canal, and is typically associated with myelomeningocele. Variable other central nervous system abnormalities might be present (partial or complete agenesis of the corpus callosum, a small fourth ventricle, obstructive hydrocephalus, falx and tentorium defects, and polygyria). Symptoms include hypotonia, apnea with cyanosis, dysphagia, opisthotonus, nystagmus, spasticity, ataxia, and occipital headache.
Arnold-Chiari malformation type II
use http://www.orpha.net/ORDO/Orphanet_102285 with label: Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
OBSOLETE: Pulmonary aortic stenosis obstructive uropathy
Abnormal origin of the pulmonary artery
use http://www.orpha.net/ORDO/Orphanet_163209 with label: Non-syndromic cerebral malformation due to abnormal neuronal migration
OBSOLETE: Arthrogryposis-epileptic seizures-migrational brain disorder syndrome
Auriculoosteodysplasia is a very rare condition characterized by multiple osseous dysplasia, characteristic ear shape (elongation of the lobe that is attached and accompanied by a small, slightly posterior lobule) and somewhat short stature.
Auriculoosteodysplasia
Neurogenic arthrogryposis multiplex congenita is a form of arthrogryposis multiplex congenita characterized by congenital immobility of the limbs with fixation of multiple joints and muscle wasting. This condition is secondary to neurogenic muscular atrophy.
Neurogenic arthrogryposis multiplex congenita
Distal arthrogryposis type 6
Arthrogryposis-like hand anomaly-sensorineural deafness syndrome is characterized by an arthrogryposis-like hand anomaly and sensorineural deafness. It has been described in only one family. Male-to-male transmission was observed.
Arthrogryposis-like hand anomaly-sensorineural deafness syndrome
SMAX2
Spinal muscular atrophy with arthrogryposis
X-linked distal arthrogryposis multiplex congenita
X-linked spinal muscular atrophy type 2
and followed by bone fractures shortly after birth. SMAX2 patients often have a limited life span, often succumbing to the disease within 2 years, as muscle weakness is progressive and chest muscle involvement eventually leads to ventilatory insufficiency and respiratory failure.
Infantile-onset X-linked spinal muscular atrophy
DA1
DA1A
Distal arthrogryposis type 1
Digitotalar dysmorphism, also known as distal arthrogryposis type 1 (DA1), is an autosomal dominant congenital anomaly characterized by contractures of the distal regions of the hands and feet with no facial involvement or any additional anomalies. It is the most common type of distal arthrogryposis (see this term).
Digitotalar dysmorphism
Distal arthrogryposis type 2B
Freeman-Sheldon syndrome variant
Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate.
Sheldon-Hall syndrome
Kuskokwim disease
Arthrogryposis-like syndrome, also known as Kuskokwim disease, is a very rare congenital contracture disorder, reported exclusively in Yup'ik Eskimos of the Kuskokwim River delta region of Alaska, characterized by multiple contractures of large joints (predominantly the knees and ankles) that present at birth or during childhood but are lifelong; deformities of the spine, pelvis and feet; and sometimes proximally or distally displaced patellae and muscle atrophy in the limbs with contractures. Additional radiological features include mild vertebral wedging, elongation of the vertebral pedicle, and clubbing of the distal clavicle. An autosomal recessive pattern of inheritance has been suggested.
Arthrogryposis-like syndrome
Beals syndrome
Beals-Hecht syndrome
CCA syndrome
Distal arthrogryposis type 9
Congenital contractural arachnodactyly (CCA, Beals syndrome) is a connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae and muscular hypoplasia.
Congenital contractural arachnodactyly
Illum syndrome
Arthrogryposis multiplex congenita-whistling face syndrome is an extremely rare type of arthrogryposis multiplex congenita characterized by the combination of multiple joint contractures with movement limitation, microstomia with a whistling appearance of the mouth that may cause feeding, swallowing, and speech difficulties, a distinctive expressionless facies, severe developmental delay, central and autonomous nervous system dysfunction (excessive salivation, temperature instability, myoclonic epileptic fits, bradycardia), occasionally Pierre-Robin sequence, and lethality generally occurring during the first months of life. Arthrogryposis multiplex congenita-whistling face syndrome has been suggested to be a fetal akinesia deformation sequence.
Arthrogryposis multiplex congenita-whistling face syndrome
use http://www.orpha.net/ORDO/Orphanet_1037 with label: Arthrogryposis multiplex congenita
OBSOLETE: Transient neonatal arthrogryposis
Distal arthrogryposis type 5
Distal arthrogryposis type IIB
Distal arthrogryposis with ophthalmoplegia
Oculomelic amyoplasia
Distal arthrogryposis type 5 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophtalmoplegia and/or strabismus). Intelligence is normal.
Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome
OBSOLETE: Arthrogryposis due to muscular dystrophy
Spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome
Progressive pseudorheumatoid arthropathy (dysplasia) of childhood (PPAC; PPD) presents as spondyloepiphyseal dysplasia (SED) tarda with progressive arthropathy and is described as a specific autosomal recessive subtype of SED.
Progressive pseudorheumatoid arthropathy of childhood
BWS
Exomphalos-macroglossia-gigantism syndrome
Wiedemann-Beckwith syndrome
Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations.
Beckwith-Wiedemann syndrome
Chylous ascites is a rare form of ascites caused by accumulation of lymph in the peritoneal cavity, usually due to intra-abdominal malignancy, liver cirrhosis or abdominal surgery complications, and present with painless but progressive abdominal distension, dyspnea and weight gain.
Chylous ascites
that can lead to the following manifestations: allergic bronchopulmonary aspergillosis (ABPA), aspergilloma, chronic necrotizing pulmonary aspergillosis (CNPA), and invasive aspergillosis (IA). Aspergilloma occurs in patients with cavitary lung disease and results in a fungal mass with variable clinical presentations from asymptomatic to life-threatening (massive hemoptysis). CNPA manifests as subacute pneumonia in patients with underlying disease. IA is disseminated aspergillosis that eventually invades other organs. Cutaneous aspergillosis is usually the dermatological manifestation of IA that manifests as erythematous-to-violaceous plaques or papules, often characterized by a central necrotic ulcer or eschar.
Aspergillosis
ABPA
Allergic aspergillosis
Hinson-Pepys disease
, clinically manifesting with poorly controlled asthma and recurrent pulmonary infiltrates.
Allergic bronchopulmonary aspergillosis
Isolated asymmetric crying facies
Congenital unilateral hypoplasia of depressor anguli oris is a congenital anomaly, characterized by the unilateral hypoplasia/agenesis of the depressor anguli oris muscle, resulting in an asymmetric crying facies in neonatal period/ infancy (drooping of one corner of the mouth during crying) while eye closure, nasolabial fold and forehead wrinkling are symmetric. While it can be isolated, this anomaly is also seen in 22q11.2 deletion syndrome (see this term) and can be accompanied by other major congenital anomalies of the cardiovascular system, as well as less frequently the musculoskeletal, cervicofacial, respiratory, genitourinary, and, rarely, endocrine systems. When isolated, the condition is cosmetically insignificant as the infant gets older (as the muscle does not contribute significantly to facial expression in childhood/ adulthood).
Congenital unilateral hypoplasia of depressor anguli oris
AOA1
Ataxia with oculomotor apraxia type 1 (AOA1) is a rare autosomal recessive cerebellar ataxia (ARCA; see this term), characterized by progressive cerebellar ataxia associated with oculomotor apraxia, severe neuropathy, and hypoalbuminemia.
Ataxia-oculomotor apraxia type 1
Behçet's disease (BD) is a chronic, relapsing, multisystemic vasculitis characterized by mucocutaneous lesions, as well as articular, vascular, ocular and central nervous system manifestations.
Behçet disease
Autosomal recessive spinocerebellar ataxia type 2
SCAR2
The disorders involving primarily the cerebellar parenchyma have been classified into six forms. In cerebelloparenchymal disorder III, cerebellar ataxia is congenital (non-progressive) and characterized by cerebellar symptoms such as incoordination of gait often associated with poor coordination of hands, speech and eye movements. The other features are congenital mental retardation and hypotonia, in addition to other neurological and non-neurological features. MRI or CT scan show marked atrophy of the vermis and hemispheres. A severe loss of granule cells with heterotopic Purkinje cells is observed. The mode of inheritance in the few reported families is autosomal recessive. In one family, cerebellar ataxia was associated to albinism.: In a large inbred Lebanese family the disease locus was assigned to a 12.1-cM interval on chromosome 9q34-qter between markers D9S67 and D9S312. The primary biochemical defect remains unknown. Up to now, the only treatment has consisted in early interventional therapies including intensive speech therapy and adequate stimulation and/or training.
Autosomal recessive cerebelloparenchymal disorder type 3
CAPOS syndrome
Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss (CAPOS syndrome) is a rare autosomal dominant neurological disorder characterized by early onset cerebellar ataxia, associated with areflexia, progressive optic atrophy, sensorineural deafness, a pes cavus deformity, and abnormal eye movements.
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
ARCA
Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of rare neurological disorders involving both the central and peripheral nervous system (and in some cases other systems and organs), and characterized by degeneration or abnormal development of the cerebellum and spinal cord and, in most cases, early onset occurring before the age of 20 years.
Autosomal recessive cerebellar ataxia
Gordon-Holmes syndrome
Luteinizing hormone-releasing hormone deficiency with ataxia
Cerebellar ataxia-hypogonadism syndrome is a very rare autosomal recessive neurodegenerative disorder characterized by the combination of progressive cerebellar ataxia with onset from early childhood to the fourth decade, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Cerebellar ataxia-hypogonadism syndrome belongs to a clinical continuum of neurodegenerative disorders along with clinically overlapping disorders such as ataxia-hypogonadism-choroidal dystrophy syndrome (see this term).
Cerebellar ataxia-hypogonadism syndrome
Cereballar ataxia - ectodermal dysplasia is a very rare disease, characterized by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates a cerebellar atrophy.
Cerebellar ataxia-ectodermal dysplasia syndrome
X-linked progressive cerebellar ataxia
Rare intestinal disease
Syndromic anorectal malformation
CENP-31
KIAA1823
centromere protein 31
PHD finger protein 6
AF17q25
KIAA0991
MSF1
Ov/Br septin
PNUTL4
SeptD1
septin 9
Allgrove, triple-A
adracalin
aladin
aladin WD repeat nucleoporin
4-aminobutyrate transaminase
GABAT
4-aminobutyrate aminotransferase
LI2
ATP binding cassette subfamily A member 12
ARMD2
CORD3
FFM
Stargardt disease
ATP binding cassette subfamily A member 4
ABC member 16, MDR/TAP subfamily
ABC16
PFIC-2
PGY4
SPGP
ATP binding cassette subfamily B member 11
GBD1
MDR2
PFIC-3
ATP binding cassette subfamily B member 4
ASAT
Atm1p
ATP binding cassette subfamily B member 7
DJS
MRP2
cMRP
ATP binding cassette subfamily C member 2
MLP1
MRP6
URG7
ATP binding cassette subfamily C member 6
ABC36
HHF1
MRP8
PHHI
SUR1
TNDM2
sulfonylurea receptor (hyperinsulinemia)
ATP binding cassette subfamily C member 8
CMD1O
SUR2
sulfonylurea receptor 2
ATP binding cassette subfamily C member 9
ALDP
AMN
adrenoleukodystrophy
ATP binding cassette subfamily D member 1
STSL
sterolin 1
ATP binding cassette subfamily G member 5
GBD4
gallbladder disease 4
sterolin 2
ATP binding cassette subfamily G member 8
CGI-58
NCIE2
abhydrolase domain containing 5
JTK7
c-ABL
ABL proto-oncogene 1, non-receptor tyrosine kinase
EOCA
EOCARR
Harding ataxia
Early onset cerebellar ataxia with retained reflexes (EOCARR) or Harding ataxia is a cerebellar ataxia characterized by the progressive association of a cerebellar and pyramidal syndrome with progressive cerebellar ataxia, brisk tendon reflexes, and sometimes profound sensory loss.
Early-onset cerebellar ataxia with retained tendon reflexes
ACAD1
MCAD
MCADH
medium-chain acyl-CoA dehydrogenase
acyl-CoA dehydrogenase medium chain
ACAD3
SCAD
acyl-CoA dehydrogenase short chain
ACAD7
SBCAD
acyl-CoA dehydrogenase short/branched chain
ACAD6
LCACD
VLCAD
acyl-CoA dehydrogenase very long chain
CSPGCP
aggrecan proteoglycan
aggrecan
THIL
acetoacetyl Coenzyme A thiolase
acetyl-CoA acetyltransferase 1
ACE1
CD143
peptidyl-dipeptidase A
angiotensin I converting enzyme
PALMCOX
palmitoyl-CoA oxidase
acyl-CoA oxidase 1
ACS4
LACS4
lignoceroyl-CoA synthase
long-chain fatty-acid-Coenzyme A ligase 4
acyl-CoA synthetase long chain family member 4
NEM3
nemaline myopathy type 3
actin, alpha 1, skeletal muscle
CMD1R
actin, alpha, cardiac muscle 1
actinin alpha 4
ACVR1A
ALK2
SKR1
activin A receptor type 1
ALK1
HHT
HHT2
activin receptor-like kinase 1
activin A receptor like type 1
adenosine deaminase
ADAM-TS10
ADAM metallopeptidase with thrombospondin type 1 motif 10
TTP
VWFCP
vWF-CP
ADAM metallopeptidase with thrombospondin type 1 motif 13
ADAM-TS2
ADAMTS-3
NPI
PCINP
hPCPNI
procollagen I N-proteinase
procollagen N-endopeptidase
ADAM metallopeptidase with thrombospondin type 1 motif 2
PDG
PGDH
SERA
phosphoglycerate dehydrogenase
phosphorylase kinase regulatory subunit alpha 1
phosphorylase kinase regulatory subunit alpha 2
phosphorylase kinase regulatory subunit beta
CFEOM2
PMX2A
paired like homeobox 2a
Ataxia-tapetoretinal degeneration syndrome
NBPhox
Phox2b
paired like homeobox 2b
PAHX
PHYH1
Refsum disease
phytanoyl-CoA dioxygenase
phytanoyl-CoA 2-hydroxylase
DPM:GlcN-(acyl-)PI mannosyltransferase
GPI mannosyltransferase 1
GPI-MT-I
dol-P-Man dependent GPI mannosyltransferase
phosphatidylinositol glycan anchor biosynthesis class M
PI3K
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
PTEN induced putative kinase 1
FAB1
KIAA0981
PIKfyve
PIP5K
ZFYVE29
zinc finger, FYVE domain containing 29
phosphoinositide kinase, FYVE-type zinc finger containing
ARP1
Brx1
IGDS
Otlx2
paired like homeodomain 2
paired like homeodomain 3
PBP
Pc-1
TRPP1
polycystin 1
transient receptor potential cation channel, subfamily P, member 1
polycystin 1, transient receptor potential channel interacting
PC2
PKD4
Pc-2
TRPP2
transient receptor potential cation channel, subfamily P, member 2
polycystin 2, transient receptor potential cation channel
ARPKD
FCYT
FPC
fibrocystin
fibrocystin/polyductin complex
polyductin
tigmin
PKHD1, fibrocystin/polyductin
pyruvate kinase L/R
B6P
ectodermal dysplasia/skin fragility syndrome
plakophilin 1
plakophilin 2
NBIA2
Neurodegeneration with brain iron accumulation 2
PARK14
PNPLA9
iPLA2
iPLA2beta
phospholipase A2 group VI
PCN
PLTN
plectin
ARHGEF44
puratrophin-1
pleckstrin homology and RhoGEF domain containing G4
plasminogen
LH1
lysyl hydroxlase 1
procollagen-lysine,2-oxoglutarate 5-dioxygenase 1
LH2
lysyl hydroxlase 2
procollagen-lysine 5-dioxygenase
procollagen-lysine,2-oxoglutarate 5-dioxygenase 2
GPM6C
Pelizaeus-Merzbacher disease
proteolipid protein 1
MYL
RNF71
TRIM19
promyelocytic leukemia
Ouvrier-Billson syndrome
Benign paroxysmal tonic upgaze of childhood with ataxia is a rare paroxysmal movement disorder characterized by episodes of sustained, conjugate, upward deviation of the eyes and down beating saccades in attempted downgaze (with preserved horizontal eye movements) which is accompanied by ataxic symptomatology (unsteady gait, lack of balance and movement coordination disturbances) in an otherwise healthy individual. Bilateral vertical nystagmus is associated. Symptoms generally disappear spontaneously within 1-2 years after onset.
Benign paroxysmal tonic upgaze of childhood with ataxia
CDG1a
CDGS
PMI
PMI1
mannose-6-phosphate isomerase
phosphomannose isomerase 1
phosphomannomutase 2
GAS3
HNPP
Sp110
peripheral myelin protein 22
MLH2
PMS1 homolog 1, mismatch repair system component
HNPCC4
MLH4
PMS1 homolog 2, mismatch repair system component
POLG1
POLGA
DNA polymerase gamma, catalytic subunit
HP55
MTPOLB
DNA polymerase gamma 2, accessory subunit
RAD30A
XP-V
DNA polymerase eta
LGMD2O
MGAT1.2
protein O-mannose beta-1,2-N-acetylglucosaminyltransferase
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
LGMD2K
dolichyl-phosphate-mannose-protein mannosyltransferase
protein O-mannosyltransferase 1
Dolichyl-phosphate-mannose--protein mannosyltransferase
LGMD2N
protein O-mannosyltransferase 2
CYPOR
cytochrome p450 oxidoreductase
GHF-1
PIT-1
POU1F1a
growth hormone factor 1
pituitary transcript factor 1
POU class 1 homeobox 1
BRN4
DFNX2
OTF9
Octamer-binding transcription factor 9
brain-4
POU class 3 homeobox 4
BRN3C
POU class 4 homeobox 3
RPF-1
Retina-derived POU-domain factor-1
POU class 6 homeobox 2
NR1C3
PPARG1
PPARG2
PPARgamma
peroxisome proliferator activated receptor gamma
PPO
protoporphyrinogen oxidase
B55beta
PP2A subunit B isoform beta
PR52B
PR55-BETA
protein phosphatase 2 regulatory subunit Bbeta
CLN1
INCL
ceroid-lipofuscinosis, neuronal 1, infantile
palmitoyl-protein thioesterase 1
polyglutamine binding protein 1
RCCP1
papillary renal cell carcinoma (translocation-associated)
RP36
photoreceptor disc component
HPLH2
PFP
Perforin
perforin 1 (preforming protein)
perforin 1
Beta-mannosidase deficiency
Beta-mannosidosis is a very rare lysosomal storage disease characterized by developmental delay of varying severity and hearing loss, but that can manifest a wide phenotypic heterogeneity.
Beta-mannosidosis
Boucher-Neuhäuser syndrome
Ataxia-hypogonadism-choroidal dystrophy syndrome is a very rare autosomal recessive, slowly progressive neurodegenerative disorder characterized by the triad of cerebellar ataxia (that generally manifests at adolescence or early adulthood), chorioretinal dystrophy, which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairment, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Ataxia-hypogonadism-choroidal dystrophy syndrome belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping cerebellar ataxia-hypogonadism syndrome (see this term).
Ataxia-hypogonadism-choroidal dystrophy syndrome
HAPO
JCAP
Jacobs camptodactyly-arthropathy-pericarditis syndrome
MSF
SZP
articular superficial zone protein
bG174L6.2 (MSF: megakaryocyte stimulating factor )
camptodactyly, arthropathy, coxa vara, pericarditis syndrome
lubricin
megakaryocyte stimulating factor
proteoglycan 4
AAKG
AAKG2
AMPK gamma2
CMH6
WPWS
protein kinase AMP-activated non-catalytic subunit gamma 2
CNC1
Carney complex type 1
protein kinase cAMP-dependent type I regulatory subunit alpha
PKC-gamma
PKCC
protein kinase C gamma
GIIB
VASAP-60
advanced glycation end-product receptor 2
glucosidase 2 subunit beta
glucosidase II beta subunit
hepatocystin
protein kinase C substrate 80K-H
AltPrP
CD230
Creutzfeldt-Jakob disease
Gerstmann-Strausler-Scheinker syndrome
PRP
fatal familial insomnia
prion protein
prepro-protein C
protein C, inactivator of coagulation factors Va and VIIIa
HSPOX2
PIG6
PRODH1
PRODH2
TP53I6
proline oxidase
proline dehydrogenase 1
BV8
KAL4
MIT1
PK2
protein Bv8 homolog
prokineticin 2
GPR73b
GPRg2
PKR2
prokineticin receptor 2
PROP paired-like homeobox 1
protein S
HPRP3
Prp3
SNRNP90
pre-mRNA processing factor 3
NY-BR-99
PRP31
SNRNP61
hPrp31
pre-mRNA processing factor 31
PRPC8
Prp8
SNRNP220
hPrp8
pre-mRNA processing factor 8
CACD2
TSPAN22
rd2
retinal peripherin
peripherin 2
CMTX5
DFNX1
PRS I
ribose-phosphate diphosphokinase 1
phosphoribosyl pyrophosphate synthetase 1
serine protease 1
BSSP-3
MRT1
motopsin
neurotrypsin
serine protease 12
ACPA
AGP7
C-ANCA
MBT
P29
PR-3
Wegener granulomatosis autoantigen
myeloblastin
serine proteinase, neutrophil
proteinase 3
KIAA1620
periaxin
variant Gaucher disease and variant metachromatic leukodystrophy
prosaposin
FAD
PS1
presenilin 1
AD3L
PS2
STM2
presenilin 2
phosphoserine phosphatase
CD2 antigen-binding protein 1
CD2 cytoplasmic tail-binding protein
CD2BP1
CD2BP1L
CD2BP1S
H-PIP
PAPAS
PEST phosphatase-interacting protein 1
PSTPIP
proline-serine-threonine phosphatase interacting protein 1
BCNS
patched 1
patched 2
MMAC1
PTEN1
TEP1
mutated in multiple advanced cancers 1
phosphatase and tensin homolog
PTF1-p48
bHLHa29
p48
pancreas associated transcription factor 1a
PTH1
parathormone
parathyrin
parathyroid hormone 1
prepro-PTH
preproparathyroid hormone
parathyroid hormone
parathyroid hormone 1 receptor
BPTP3
PTP2C
SH-PTP2
SHP-2
SHP2
protein tyrosine phosphatase, non-receptor type 11
GP180
LCA
protein tyrosine phosphatase, receptor type C
PTPS
6-pyruvoyltetrahydropterin synthase
tRNA pseudouridine(38-40) synthase
pseudouridylate synthase 1
CD111
CLPED1
HIgR
OFC7
PRR
PRR1
PVRR1
SK-12
nectin
nectin cell adhesion molecule 1
PAF-1
PMP35
RNF72
ZWS3
Zellweger syndrome
peroxin 2
peroxisomal biogenesis factor 2
Hers disease
glycogen phosphorylase, liver form
glycogen storage disease type VI
glycogen phosphorylase L
McArdle syndrome
glycogen phosphorylase, muscle form
glycogen storage disease type V
myophosphorylase
glycogen phosphorylase, muscle associated
6,7-dihydropteridine reductase
DHPR
PKU2
SDR33C1
short chain dehydrogenase/reductase family 33C, member 1
quinoid dihydropteridine reductase
GS2
RAB27
RAM
RAB27A, member RAS oncogene family
KIAA0066
RAB3GAP
RAB3GAP130
WARBM1
RAB3 GTPase activating protein catalytic subunit 1
Autosomal dominant spastic ataxia type 7
SPAX7
Spastic ataxia with congenital miosis is a rare hereditary ataxia characterized by an apparently non-progressive or slowly progressive symmetrical ataxia of gait, pyramidal signs in the limbs, spasticity and hyperreflexia (especially in the lower limbs) together with dysarthria and impaired pupillary reaction to light, presenting as a fixed miosis (with pupils that seldom exceed 2 mm in diameter and dilate poorly with mydriatics). Nystagmus may also be present.
Spastic ataxia with congenital miosis
KIAA0839
RAB3-GAP150
SPG69
RAB3 GTPase activating non-catalytic protein subunit 2
RAB7A, member RAS oncogene family
BRCA1/BRCA2-containing complex, subunit 5
BRCC5
FANCR
HsRad51
RAD51 recombinase
RING finger protein 74
RNF74
V(D)J recombination-activating protein 1
recombination activating protein 1
recombination activating 1
recombination activating 2
KIAA1820
SMS
retinoic acid induced 1
CMS1D
CMS1E
RNF205
rapsyn
receptor associated protein of the synapse
NR1B1
RAR
retinoic acid receptor alpha
CM-AVM
GAP
capillary malformation-arteriovenous malformation
p120 RAS GTPase activating protein
p120GAP
p120RASGAP
RAS p21 protein activator 1
PPP1R130
prepro-retinoblastoma-associated protein
protein phosphatase 1, regulatory subunit 130
RB transcriptional corepressor 1
LCA12
retinal degeneration 3
LCA13
RP53
SDR7C2
short chain dehydrogenase/reductase family 7C, member 2
retinol dehydrogenase 12
HSD17B9
SDR9C5
short chain dehydrogenase/reductase family 9C, member 5
retinol dehydrogenase 5
RecQ4
RecQ like helicase 4
Yip2a
receptor expression enhancing protein 1
receptor accessory protein 1
PRO1598
reelin
CDHF12
CDHR16
PTC
RET receptor tyrosine kinase
RET51
cadherin-related family member 16
rearranged during transfection
ret proto-oncogene
RFC40
activator 1
replication factor C subunit 2
regulatory factor X5
ANKRA1
BLS
DNA-binding protein RFXANK
RFX-B
RFX-Bdelta4
ankyrin repeat-containing regulatory factor X-associated protein
regulatory factor X subunit B
regulatory factor X associated ankyrin containing protein
regulatory factor X associated protein
RGR-opsin
RP44
retinal G protein coupled receptor
PERRS
RGS9L
regulator of G protein signalling 9
regulator of G protein signalling 9L
regulator of G-protein signaling 9L
regulator of G protein signaling 9
Ataxo-opso-myoclonus syndrome
Dancing eye syndrome
Dancing eye-dancing feet syndrome
Kinsbourne syndrome
OMA syndrome
OMS
Opsoclonus-myoclonus-ataxia syndrome
POMA syndrome
Paraneoplastic opsoclonus-myoclonus
Paraneoplastic opsoclonus-myoclonus-ataxia syndrome
Opsoclonus myoclonus syndrome (OMS) is a rare neuroinflammatory disease of paraneoplastic, parainfectious or idiopathic origin, characterized by opsoclonus, myoclonus, ataxia, and behavioral and sleep disorders.
Opsoclonus-myoclonus syndrome
R9AP
RGS9
regulator of G protein signaling 9 binding protein
CD241
RH50A
SLC42A1
Rh associated glycoprotein
CD240CE
Rh blood group CcEe antigens
CSNBAD1
OPN2
opsin 2, rod pigment
rhodopsin
KIAA0340
RIM
RIM1
Rab3-interacting molecule
regulating synaptic membrane exocytosis 1
CRALBP
retinaldehyde binding protein 1
AGS4
RNASEHI
RNHIA
RNHL
ribonuclease H2 subunit A
ribonuclease H2 subunit B
AGS3
AYP1
Aicardi-Goutieres syndrome 3
ribonuclease H2 subunit C
ribonuclease L
HRCA1
RCA1
TRC8
translocation in renal carcinoma, chromosome 8
ring finger protein 139
HGPS
RBIG1
roundabout guidance receptor 3
ROM
TSPAN23
retinal outer segment membrane protein 1
receptor tyrosine kinase like orphan receptor 2
DCDC4A
ORP1
doublecortin domain containing 4A
oxygen-regulated protein 1
RP1, axonemal microtubule associated
NM23-H10
NME10
TBCCD2
RP2, ARL3 GTPase activating protein
PAP-1
Pim-1 kinase associated protein
RP9, pre-mRNA splicing factor
BCO family, member 3
BCO3
LCA2
all-trans-retinyl-palmitate hydrolase
rd12
retinol isomerase
RPE65, retinoid isomerohydrolase
CORDX1
retinitis pigmentosa GTPase regulator
CORD13
LCA6
RGI1
RPGR interacting protein 1
DXS648
DXS648E
L10
NOV
ribosomal protein L10
Fenton-Wilkinson-Toselano syndrome
Ataxia-photosensitivity-short stature syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by cerebellar-like ataxia, photosensitivity (mainly of the face and trunk), short stature and intellectual disability. Additonal features include clinodactyly, single palmar transverse crease, high-arched palate, pseudohypertrophy of the calves and aortic valve lesions. There have been no further descriptions in the literature since 1983.
Ataxia-photosensitivity-short stature syndrome
DBA
Diamond-Blackfan anemia
S19
eS19
ribosomal protein S19
S24
eS24
ribosomal protein S24
HU-3
RSK
RSK2
ribosomal protein S6 kinase A3
XLRS1
retinoschisin 1
RSPONDIN
R-spondin 1
R-spondin 4
AMLCR1
PEBP2A2
aml1 oncogene
runt related transcription factor 1
AML3
PEBP2A1
PEBP2aA1
runt related transcription factor 2
PPP1R137
RYR
protein phosphatase 1, regulatory subunit 137
ryanodine receptor 1
ARVC2
VTSIP
ryanodine receptor 2
ARSACS
DNAJC29
KIAA0730
PPP1R138
SPAX6
protein phosphatase 1, regulatory subunit 138
sacsin molecular chaperone
ARRESTIN
RP47
arrestin 1
rod arrestin
S-antigen visual arrestin
Hsal1
ZNF794
spalt like transcription factor 1
ZNF797
spalt like transcription factor 4
KIAA2004
sterile alpha motif domain containing 9
secretion associated Ras related GTPase 1B
SDH
sarcosine dehydrogenase
CGI-97
SDS
SWDS
SBDS, ribosome maturation factor
DENND7B
KIAA1766
MTMR13
myotubularin related 13
SET binding factor 2
lathosterol oxidase
sterol-C5-desaturase
GEFSP2
HBSCI
NAC1
Nav1.1
SMEI
sodium voltage-gated channel alpha subunit 1
sodium voltage-gated channel beta subunit 1
Spinocerebellar ataxia-dysmorphism is marked by characteristic facies associated with dysarthria, delayed psychomotor development, ataxia, scoliosis and foot deformities. Three cases have been described and transmission appears to be autosomal recessive.
Spinocerebellar ataxia-dysmorphism syndrome
HBSCII
Nav1.2
sodium voltage-gated channel alpha subunit 2
HYPP
Nav1.4
SkM1
sodium voltage-gated channel alpha subunit 4
CDCD2
CMPD2
HB1
HB2
HBBD
HH1
ICCD
IVF
LQT3
Nav1.5
PFHB1
SSS1
long QT syndrome 3
sodium voltage-gated channel alpha subunit 5
ETHA
NE-NA
NENA
Nav1.7
PN1
sodium voltage-gated channel alpha subunit 9
ENaCalpha
amiloride-sensitive sodium channel subunit alpha
sodium channel epithelial 1 alpha subunit
ENaCbeta
Liddle syndrome
amiloride-sensitive sodium channel subunit beta
sodium channel epithelial 1 beta subunit
ENaCgamma
SCNEG
amiloride-sensitive sodium channel subunit gamma
sodium channel epithelial 1 gamma subunit
SCO1, cytochrome c oxidase assembly protein
SCO1L
SCO2, cytochrome c oxidase assembly protein
SDHF
flavoprotein subunit of complex II
succinate dehydrogenase [ubiquinone] flavoprotein subunit
succinate dehydrogenase complex flavoprotein subunit A
iron-sulfur subunit of complex II
succinate dehydrogenase [ubiquinone] iron-sulfur subunit
succinate dehydrogenase complex iron sulfur subunit B
CYB560
cybL
large subunit of cytochrome b
succinate dehydrgenase cytochrome b
succinate dehydrogenase cytochrome b560 subunit
succinate dehydrogenase complex subunit C
cybS
small subunit of cytochrome b
succinate dehydrogenase complex subunit D
Sec23 homolog A, coat complex II component
DNAJC23
ERdj2
PRO2507
SEC63L
SEC63 homolog, protein translocation regulator
KIAA0331
M-SemaK
M-sema H
coll-5
semaphorin 3E
RSS
SELN
selenoprotein N
IOSCA
Ohaha syndrome
Ophthalmoplegia-hypotonia-ataxia-hypoacusis-athetosis syndrome
Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families.
Infantile onset spinocerebellar ataxia
A1A
A1AT
AAT
PI1
alpha-1-antitrypsin
alpha1AT
protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin
serpin family A member 1
ATIII
antithrombin (aa 375-432)
antithrombin III
coding sequence signal peptide antithrombin part 1
signal peptide antithrombin part 1
serpin family C member 1
PAI
plasminogen activator inhibitor, type I
serpin family E member 1
C1-INH
C1IN
HAE1
HAE2
angioedema, hereditary
plasma protease C1 inhibitor
serpin family G member 1
neuroserpin
serpin family I member 1
AOA2
KIAA0625
Sen1
senataxin
COLEC4
SP-A
SP-A1
surfactant, pulmonary-associated protein A1A
surfactant protein A1
SP-B
surfactant protein B
BRICD6
BRICHOS domain containing 6
PSP-C
SMDP2
SP-C
surfactant protein C
50kD DAG
DMDA2
LGMD2D
SCARMD1
adhalin
limb girdle muscular dystrophy 2D
sarcoglycan alpha
A3b
SGC
sarcoglycan beta
CMD1L
DAGD
LGMD2F
sarcoglycan delta
sarcoglycan epsilon
35kD dystrophin-associated glycoprotein
DAGA4
DMDA
Maghrebian myopathy (autosomal recessive)
SCARMD2
SCG3
TYPE
gamma sarcoglycan
limb girdle muscular dystrophy 2C (Duchenne-like muscular dystrophy, autosomal recessive)
sarcoglycan gamma
HSS
MPS3A
SFMD
mucopolysaccharidosis type IIIA
sulfamidase
N-sulfoglucosamine sulfohydrolase
DSHP
Duncan's disease
EBVS
MTCP1
SAP
XLP
XLPD
SH2 domain containing 1A
CRBM
RES4-23
SH3 domain binding protein 2
CMT4C
KIAA1985
SH3 domain and tetratricopeptide repeats 2
KIAA1650
PSAP2
SPANK-2
proline rich synapse associated protein 2
prosap2
shank postsynaptic density protein
SH3 and multiple ankyrin repeat domains 3
Arts syndrome
Lethal ataxia with deafness and optic atrophy (also known as Arts syndrome) is characterized by intellectual deficit, early-onset hypotonia, ataxia, delayed motor development, hearing impairment and loss of vision due to optic atrophy.
Lethal ataxia with deafness and optic atrophy
HHG1
MCOPCB5
SMMCI
TPT
TPTPS
sonic hedgehog
GCFX
PHOG
SHOXY
short stature homeobox
KIAA1202
shroom family member 4
Oligosaccharide alpha-1,6-glucosidase
alpha-glucosidase
sucrase-isomaltase
BAP
ULG5
SIL1 nucleotide exchange factor
SIX homeobox 1
SIX homeobox 3
Six9
SIX homeobox 6
DCT1
DMT1
solute carrier family 11 member 2
NKCC2
solute carrier family 12 member 1
NCCT
solute carrier family 12 member 3
solute carrier family 12 member 6
MCT7
MCT8
XPCT
solute carrier family 16 member 2
AST
ISSD
NSD
SIALIN
SLD
solute carrier family 17 member 5
THTR1
solute carrier family 19 member 2
THTR2
thiamine transporter 2
solute carrier family 19 member 3
OCTN2
SCD
solute carrier family 22 member 5
ARALAR2
CITRIN
mitochondrial aspartate glutamate carrier 2
solute carrier family 25 member 13
ORC1
ornithine transporter 1
solute carrier family 25 member 15
DNC
MUP1
TPC
solute carrier family 25 member 19
CAC
carnitine-acylcarnitine carrier
carnitine/acylcarnitine translocase
solute carrier family 25 member 20
Ataxia-hearing loss-intellectual disability syndrome
Reardon-Baraitser syndrome
This syndrome is characterised by progressive ataxia beginning during childhood, deafness and intellectual deficit.
Ataxia-deafness-intellectual disability syndrome
EIEE3
GC1
NET44
solute carrier family 25 member 22
solute carrier family 25 member 4
DTDST
solute carrier family 26 member 2
solute carrier family 26 member 3
PDS
pendrin
solute carrier family 26 member 4
GLUT10
solute carrier family 2 member 10
solute carrier family 2 member 2
NAPI-3B
solute carrier family 34 member 2
NPTIIc
solute carrier family 34 member 3
FUCT1
solute carrier family 35 member C1
SERCA1
calcium pump 1
sarcoplasmic/endoplasmic reticulum calcium ATPase 1
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1
SERCA2
calcium pump 2
sarcoplasmic/endoplasmic reticulum calcium ATPase 2
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2
ATP2C1A
KIAA1347
PMR1
SPCA1
calcium-transporting ATPase type 2C member 1
secretory pathway Ca2+/Mn2+ ATPase 1
ATPase secretory pathway Ca2+ transporting 1
APT6M8-9
ATP6M8-9
RENR
prorenin receptor
renin receptor
ATPase H+ transporting accessory protein 2
RDRTA2
RTADR
Stv1
VPP2
Vph1
ATPase H+ transporting V0 subunit a4
RTA1B
Renal tubular acidosis with deafness
VATB
Vma2
ATPase H+ transporting V1 subunit B1
copper pump 1
copper-transporting ATPase 1
ATPase copper transporting alpha
Wilson disease
copper pump 2
copper-transporting ATPase 2
ATPase copper transporting beta
ATPIC
PFIC
ATPase phospholipid transporting 8B1
ATP12
Atp12p
LP3663
ATP synthase mitochondrial F1 complex assembly factor 2
FRP1
MEC1
MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)
SCKL
SCKL1
ATR serine/threonine kinase
RAD54 homolog (S. cerevisiae)
XH2
XNP
ATRX, chromatin remodeler
ATX1
D6S504E
ataxin 1
E46L
ataxin 10
ATX2
trinucleotide repeat containing 13
ataxin 2
ATX3
JOS
ataxin 3
ADCAII
OPCA3
ataxin 7
ataxin 8
AU RNA binding methylglutaconyl-CoA hydratase
ADH
antidiuretic hormone
copeptin
diabetes insipidus
neurohypophyseal
neurophysin II
prepro-AVP-NP II
prepro-arginine-vasopressin-neurophysin II
arginine vasopressin
V2R
nephrogenic diabetes insipidus
arginine vasopressin receptor 2
axil
conductin
axin 2
B3GTL
B3Glc-T
beta-1,3-glucosyltransferase
beta 3-glucosyltransferase
beta4Gal-T1
beta-1,4-galactosyltransferase 1
XGALT-1
beta4Gal-T7
galactosyltransferase I
beta-1,4-galactosyltransferase 7
WSTF
Williams-Beuren syndrome chromosome region 10
Williams-Beuren syndrome chromosome region 9
transcription factor WSTF
bromodomain adjacent to zinc finger domain 1B
Bardet-Biedl syndrome 1
Bardet-Biedl syndrome 10
Bardet-Biedl syndrome 2
Bardet-Biedl syndrome 4
Bardet-Biedl syndrome 5
BBS2L1
Bardet-Biedl syndrome 7
PTHB1
parathyroid hormone responsive B1 gene
Bardet-Biedl syndrome 9
butyrylcholinesterase
Beta-sarcoglycanopathy
LGMD2E
Limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency
Autosomal recessive limb girdle muscular dystrophy type 2E (LGMD2E) is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by a childhood to adolescent onset of progressive pelvic- and shoulder-girdle muscle weakness, particularly affecting the pelvic girdle (adductors and flexors of hip). Usually the knees are the earliest and most affected muscles. In advanced stages, involvement of the shoulder girdle (resulting in scapular winging) and the distal muscle groups are observed. Calf hypertrophy, cardiomyopathy, respiratory impairment, tendon contractures, scoliosis, and exercise-induced myoglobinuria may be observed.
Autosomal recessive limb-girdle muscular dystrophy type 2E
AO1
AOI
Atelosteogenesis type 1
Giant cell chondrodysplasia
Spondylo-humero-femoral dysplasia
Atelosteogenesis I is a perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings.
Atelosteogenesis type I
MSU
maple syrup urine disease
branched chain keto acid dehydrogenase E1, alpha polypeptide
2-oxoisovalerate dehydrogenase subunit beta, mitochondrial
branched chain keto acid dehydrogenase E1 subunit beta
Bcl-2
PPP1R50
protein phosphatase 1, regulatory subunit 50
BCL2, apoptosis regulator
KIAA1575
BCL6 corepressor
ALL
CML
PHL
BCR, RhoGEF and GTPase activating protein
BCS
BJS
Bjornstad syndrome
GRACILE syndrome
h-BCS
BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone
neurotrophin
brain derived neurotrophic factor
BEST
BMD
Best disease
RP50
bestrophin 1
CP47
CP49
LIFL-L
phakinin
beaded filament structural protein 2
BLOC-1 subunit 3
BLOS3
Biogenesis of Lysosome-related Organelles complex-1 Subunit 3
HPS8
Hermansky-Pudlak syndrome 8
biogenesis of lysosomal organelles complex 1 subunit 3
ALK3
CD292
bone morphogenetic protein receptor type 1A
ALK6
CDw293
bone morphogenetic protein receptor type 1B
BMPR-II
BMPR3
BRK-3
T-ALK
bone morphogenetic protein receptor type 2
bisphosphoglycerate mutase
BRAF1
B-Raf proto-oncogene, serine/threonine kinase
BRCA1/BRCA2-containing complex, subunit 1
BRCC1
FANCS
Fanconi anemia, complementation group S
PPP1R53
RNF53
protein phosphatase 1, regulatory subunit 53
BRCA1, DNA repair associated
BRCA1/BRCA2-containing complex, subunit 2
BRCC2
FAD1
XRCC11
BRCA2, DNA repair associated
BACH1
BRCA1/BRCA2-associated helicase 1
FANCJ
BRCA1 interacting protein C-terminal helicase 1
seipin
BSCL2, seipin lipid droplet biogenesis associated
BART
barttin CLCNK type accessory beta subunit
biotinidase
ATK
Bruton's tyrosine kinase
PSCTK1
XLA
Bruton tyrosine kinase
BUBR1
Bub1A
MAD3L
SSK1
BUB1 mitotic checkpoint serine/threonine kinase B
complement C2
ORF20
TTDN1
tricothiodystrophy, non-photosensitive 1
M-phase specific PLK1 interacting protein
CA-II
CAII
Car2
carbonic anhydrase 2
CAIV
Car4
carbonic anhydrase 4
CSNB2B
calcium binding protein 4
APCA
Cav2.1
EA2
FHM
HPCA
calcium voltage-gated channel subunit alpha1 A
CACH2
CACN2
Cav1.2
LQT8
calcium voltage-gated channel subunit alpha1 C
CORDX3
CSNB2A
CSNBX2
Cav1.4
JM8
JMC8
OA2
calcium voltage-gated channel subunit alpha1 F
Cav1.1
hypoPP
calcium voltage-gated channel subunit alpha1 S
calcium voltage-gated channel auxiliary subunit beta 2
EJM4
calcium voltage-gated channel auxiliary subunit beta 4
CANP3
nCL-1
p94
calpain 3
MCH4
caspase 10
PDIB2
calsequestrin 2
FHH
GPRC2A
NSHPT
severe neonatal hyperparathyroidism
calcium sensing receptor
catalase
LGMD1C
LQT9
M-caveolin
VIP-21
VIP21
caveolin 3
HIP4
cystathionine-beta-synthase
Feigenbaum-Bergeron-Richardson syndrome
Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome is characterised by sensorineural deafness, diabetes mellitus, progressive neurological deterioration with photomyoclonic epilepsy, and progressive nephropathy. It has been described in two brothers. Premature atherosclerosis of renal, coronary, and cerebral arteries and the aorta was also observed.
Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome
MRT3
mental retardation, nonsyndromic, autosomal recessive, 3
coiled-coil and C2 domain containing 1A
DNA segment, single copy, probe pH4 (transforming sequence, thyroid-1
coiled-coil domain containing 6
MGC4607
OSM
malcavernin
osmosensing scaffold for MEKK3
CCM2 scaffold protein
B-cell CLL/lymphoma 1
G1/S-specific cyclin D1
U21B31
parathyroid adenomatosis 1
cyclin D1
KIAA0098
chaperonin containing TCP1 subunit 5
CD19 molecule
Bp50
p50
CD40 molecule
CD154
CD40 antigen ligand
CD40L
T-B cell-activating molecule
TNF-related activation protein
TRAP
gp39
hCD40L
hyper-IgM syndrome
tumor necrosis factor (ligand) superfamily member 5
CD40 ligand
TLX
TRA2.10
CD46 molecule
CDA-I
CDAI
codanin 1
FIHP
Paf1/RNA polymerase II complex component
parafibromin
cell division cycle 73
CD324
E-Cadherin
uvomorulin
cadherin 1
CDHR23
cadherin-related family member 23
cadherin related 23
CDHP
P-cadherin
PCAD
cadherin 3
PSK-J3
cyclin dependent kinase 4
C48
CEP215
centrosomin
CDK5 regulatory subunit associated protein 2
CFAP247
EIEE2
cyclin dependent kinase like 5
X-linked intellectual disability, Atkin type
Atkin-Flaitz syndrome is characterised by moderate to severe intellectual deficit, short stature, macrocephaly, and characteristic facies. It has been described in 11 males and three females from three successive generations of the same family. The males also presented with postpubertal macroorchidism. Transmission is X-linked.
Atkin-Flaitz syndrome
KIP2
P57
cyclin dependent kinase inhibitor 1C
ARF
CDK4I
CMM2
INK4
INK4a
MTS1
p14
p14ARF
p16
p16INK4a
p19
p19Arf
cyclin dependent kinase inhibitor 2A
D6S586E
corneodesmosin
BSSL
MODY8
bile salt-stimulated lipase
carboxyl ester lipase
BM032
CPAP
LAP
LIP1
SASS4
SCKL4
Sas-4
centrosomal P4.1-associated protein
centromere protein J
3H11Ag
BBS14
Bardet-Biedl syndrome 14
CT87
JBTS5
Joubert syndrome 5
KIAA0373
LCA10
MKS4
Meckel syndrome, type 4
NPHP6
POC3
POC3 centriolar protein homolog (Chlamydomonas)
SLSN6
cancer/testis antigen 87
nephrocystin-6
rd16
centrosomal protein 290
ceramide kinase like
BPI fold containing family F
BPIFF
cholesteryl ester transfer protein
CRYPTIC
cripto, FRL-1, cryptic family 1
ARMD4
ARMS1
FHL1
H factor 2 (complement)
HUS
age-related maculopathy susceptibility 1
beta-1H
complement factor H
C3b-INA
C3b-inactivator
KAF
Konglutinogen-activating factor
complement factor I
NEM7
nemaline myopathy type 7
cofilin 2
complement factor properdin
ABC35
ATP-binding cassette sub-family C, member 7
CFTR/MRP
MRP7
TNR-CFTR
cystic fibrosis transmembrane conductance regulator
choline O-acetyltransferase
KIAA1416
chromodomain helicase DNA binding protein 7
CDS1
CHK2
HuCds1
PP1425
bA444G7
checkpoint kinase 2
Mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency
Mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency
Mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex V deficiency
mutation is characterized by early neonatal onset of hypotonia, hypetrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria.
TMEM70-related mitochondrial encephalo-cardio-myopathy
REP-1
CHM, Rab escort protein 1
CHMP2.5
VPS2 homolog B (S. cerevisiae)
VPS2B
charged multivesicular body protein 2B
acetylcholine receptor, nicotinic, alpha 1 (muscle)
cholinergic receptor nicotinic alpha 1 subunit
BFNC
acetylcholine receptor, nicotinic, alpha 4 (neuronal)
cholinergic receptor nicotinic alpha 4 subunit
acetylcholine receptor, nicotinic, beta 1 (muscle)
cholinergic receptor nicotinic beta 1 subunit
acetylcholine receptor, nicotinic, delta (muscle)
cholinergic receptor nicotinic delta subunit
ACHRE
acetylcholine receptor, nicotinic, epsilon (muscle)
cholinergic receptor nicotinic epsilon subunit
acetylcholine receptor, nicotinic, gamma (muscle)
cholinergic receptor nicotinic gamma subunit
C6ST
C6ST1
chondroitin 6 sulfotransferase 1
carbohydrate sulfotransferase 3
carbohydrate sulfotransferase 6
C2TA
NLR family, acid domain containing
NLRA
nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing
class II major histocompatibility complex transactivator
CLC1
ClC-1
Thomsen disease, autosomal dominant
chloride voltage-gated channel 1
CLC5
ClC-5
DENTS
Dent disease
XLRH
XRN
hCIC-K2
hClC-K2
chloride voltage-gated channel 5
CLC-7
CLC7
OPTA2
PPP1R63
protein phosphatase 1, regulatory subunit 63
chloride voltage-gated channel 7
hClC-Kb
chloride voltage-gated channel Kb
ILVASC
SEMP1
senescence-associated epithelial membrane protein 1
claudin 1
GSD1b
GSD1c
GSD1d
solute carrier family 37 member 4
AWMS2
ZIP4
solute carrier family 39 member 4
FPN1
HFE4
IREG1
MTP1
ferroportin 1
solute carrier family 40 member 1
Congenital hypotransferrinemia
Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth retardation) and iron overload, and that can be fatal if left untreated.
Congenital atransferrinemia
ADAR1
adenosine deaminase, RNA specific
adenylosuccinate lyase
FRAXE
AF4/FMR2 family member 2
ASRG
N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase
glycosylasparaginase
aspartylglucosaminidase
GPATC7
GPATCH7
VG5Q
angiogenic factor with G-patch and FHA domains 1
glycogen debranching enzyme
glycogen storage disease type III
amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
LPAAT-beta
lysophosphatidic acid acyltransferase, beta
1-acylglycerol-3-phosphate O-acyltransferase 2
ADAP-S
ADAS
ADHAPS
ADPS
ALDHPSY
alkylglycerone phosphate synthase
alpha-1 antiproteinase, antitrypsin
angiotensinogen
AGT
AGT1
AGXT1
L-alanine: glyoxylate aminotransferase 1
PH1
SPT
glycolicaciduria
oxalosis I
primary hyperoxaluria type 1
serine:pyruvate aminotransferase
alanine--glyoxylate and serine--pyruvate aminotransferase
SAHH
adenosylhomocysteinase
JBTS3
Jouberin
ORF1
Abelson helper integration site 1
AID
ARP2
CDA2
activation induced cytidine deaminase
aryl hydrocarbon receptor interacting protein like 1
APS1
PGA1
autoimmune polyendocrinopathy candidiasis ectodermal dystrophy
autoimmune regulator
adenylate kinase 1
ALADH
PBGS
porphobilinogen synthase
aminolevulinate dehydratase
sideroblastic/hypochromic anemia
5'-aminolevulinate synthase 2
albumin
P5CS
aldehyde dehydrogenase 18 family member A1
FALDH
fatty aldehyde dehydrogenase
aldehyde dehydrogenase 3 family member A2
Delta-1-pyrroline-5-carboxylate dehydrogenase
L-glutamate gamma-semialdehyde dehydrogenase
P5CDh
aldehyde dehydrogenase 4 family member A1
SSADH
SSDH
succinate-semialdehyde dehydrogenase
aldehyde dehydrogenase 5 family member A1
26g turgor protein homolog
EPD
P6c dehydrogenase
PDE
alpha-AASA dehydrogenase
alpha-aminoadipic semialdehyde dehydrogenase
antiquitin 1
delta1-piperideine-6-carboxylate dehydrogenease
aldehyde dehydrogenase 7 family member A1
aldolase, fructose-bisphosphate A
aldolase, fructose-bisphosphate B
CDG1K
HMAT1
HMT-1
Mat-1
ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase
CDG1G
ECM39
dol-P-Man dependent alpha-1,6-mannosyltransferase
dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichol alpha-1,6-mannosyltransferase
ALG12, alpha-1,6-mannosyltransferase
CDG1I
CDGIi
NET38
hALPG2
ALG2, alpha-1,3/1,6-mannosyltransferase
CDGS4
D16Ertd36e
NOT56L
Not56
carbohydrate deficient glycoprotein syndrome type IV
dol-P-Man dependent alpha-1,3- mannosyltransferase
dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase
ALG3, alpha-1,3- mannosyltransferase
3-glucosyltransferase
ALG6, alpha-1,3-glucosyltransferase
MGC2840
ALG8, alpha-1,3-glucosyltransferase
dol-P-Man dependent alpha-1,2-mannosyltransferase
dolichyl-P-Man:Man(6)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase
dolichyl-P-Man:Man(8)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase
ALG9, alpha-1,2-mannosyltransferase
KIAA0328
ALMS1, centrosome and basal body associated protein
12R-LOX
arachidonate 12-lipoxygenase, 12R type
E-LOX
Epidermal lipoxygenase-3
eLOX3
arachidonate lipoxygenase 3
TNALP
TNAP
TNSALP
tissue non-specific alkaline phosphatase
alkaline phosphatase, liver/bone/kidney
Alsin
ALS2, alsin Rho guanine nucleotide exchange factor
FPP
KIAA1788
PFM
ALX homeobox 4
amelogenesis imperfecta 1
amelogenin X-linked
MIS
anti-Mullerian hormone
MISR2
MISRII
Muellerian inhibiting substance type II receptor
anti-Mullerian hormone receptor type 2
Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1
AIM-1
OCA4
solute carrier family 45 member 2
CD233
Froese blood group
RTA1A
Swann blood group
Wright blood group
solute carrier family 4 member 1 (Diego blood group)
BTR1
FECD4
NaBC1
solute carrier family 4 member 11
HNBC1
NBC1
NBC2
hhNMC
pNBC
solute carrier family 4 member 4
NAGT
sodium/glucose cotransporter 1
solute carrier family 5 member 1
solute carrier family 5 member 2
NIS
solute carrier family 5 member 5
Hartnup disease
solute carrier family 6 member 19
CRTR
CT1
creatine transporter
solute carrier family 6 member 8
y+LAT-1
solute carrier family 7 member 7
solute carrier family 7 member 9
ANUP
ARS
ARS component B
ArsB
LY6LS
MDM
lymphocyte antigen 6-like secreted
secreted LY6/PLAUR domain containing 1
DPC4
SMAD family member 4
ATP-driven annealing helicase
HARP
HHARP
HepA-related protein
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1
BAF47
Ini1
PPP1R144
RDT
SNF5
Sfh1p
Snr1
hSNFS
integrase interactor 1
malignant rhabdoid tumor suppressor
protein phosphatase 1, regulatory subunit 144
sucrose nonfermenting, yeast, homolog-like 1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
DXS423E
KIAA0178
SB1.8
Smcb
structural maintenance of chromosomes 1A
BCD541
GEMIN1
SMNC
TDRD16B
tudor domain containing 16B
survival of motor neuron 2, centromeric
ASM
acid sphingomyelinase
sphingomyelin phosphodiesterase 1
SLUGH
SLUGH1
SNAIL2
snail family transcriptional repressor 2
CEDNIK
SNAP-29
soluble 29 kDa NSF attachment protein
synaptosome associated protein 29
#945;-synuclein
NACP
PD1
alpha-synuclein
non A4 component of amyloid precursor
α-synuclein
synuclein alpha
HCERN3
RT-LI
SM protein N
SM-D
SMN
SNRNP-N
SNURF-SNRPN
small nuclear ribonucleoprotein N
tissue-specific splicing protein
small nuclear ribonucleoprotein polypeptide N
IPOA
superoxide dismutase 1
GF1
HGF
SOS Ras/Rac guanine nucleotide exchange factor 1
DOM
WS2E
WS4
dominant megacolon, mouse, human homolog of
SRY-box 10
SRY-box 18
SRY-box 2
SRA1
SRY-box 9
SP110 nuclear body protein
Colonic atresia is a congenital intestinal malformation resulting in a non-latent segment of the colon and characterized by lower intestinal obstruction manifesting with abdominal distention and failure to pass meconium in newborns.
Colonic atresia
ADPSP
FSP2
KIAA1083
spastin
spatacsin
SPG11, spatacsin vesicle trafficking associated
KIAA0610
TAHCCP1
spartin
ACP33
BM-019
GL010
MAST
SPG21, maspardin
AD-FSP
FSP1
atlastin
atlastin GTPase 1
CAR
SPG5C
paraplegin
SPG7, paraplegin matrix AAA peptidase subunit
PCTT
PSTI
Spink3
TATI
serine peptidase inhibitor, Kazal type 1
LEKTI
LETKI
NETS
VAKTI
lymphoepithelial Kazal-type-related inhibitor
serine peptidase inhibitor, Kazal type 5
SDR38C1
Sepiapterin reductase (L-erythro-7,8-dihydrobiopterin forming)
short chain dehydrogenase/reductase family 38C, member 1
sepiapterin reductase
EL2
elliptocytosis 2
spectrin alpha, erythrocytic 1
spherocytosis, clinical type I
spectrin beta, erythrocytic
spectrin beta, non-erythrocytic 2
HSAN1
LCB1
SPTI
hLCB1
serine palmitoyltransferase long chain base subunit 1
3-oxo-5-alpha-steroid 4-dehydrogenase 2
steroid 5 alpha-reductase 2
SRPUL
sushi repeat containing protein X-linked 2
TDF
testis-determining factor
sex determining region Y
SYT
SS18, nBAF chromatin remodeling complex subunit
CT5.1
cancer/testis antigen family 5, member 1
SSX family member 1
STARD1
StAR
StAR related lipid transfer (START) domain containing 1
steroidogenic acute regulatory protein
ISGF-3
STAT91
transcription factor ISGF-3 components p91/p84
signal transducer and activator of transcription 1
signal transducer and activator of transcription 5B
LKB1
PJS
polarization-related protein LKB1
serine/threonine kinase 11
ARSC
arylsulfatase C
steryl-sulfatase
steroid sulfatase
syntaxin 11
succinate--CoA ligase (ADP-forming)
succinate-CoA ligase ADP-forming beta subunit
PRO1280
SUFUH
SUFUXL
SUFU negative regulator of hedgehog signaling
FGE
UNQ3037
sulfatase modifying factor 1
Oesophageal atresia (OA) encompasses a group of congenital anomalies with an interruption in the continuity of the oesophagus, with or without persistent communication with the trachea.
Esophageal atresia
sulfite oxidase
surfeit locus protein 1
SURF1, cytochrome c oxidase assembly factor
synapsin I
T-box transcription factor T
EGP-1
TROP2
tumor associated calcium signal transducer 2
SCL
bHLHa17
TAL bHLH transcription factor 1, erythroid differentiation factor
D6S217E
PSF2
RING11
transporter 2, ATP binding cassette subfamily B member
tyrosine aminotransferase
TAZ1
XAP-2
tafazzin
KCS1
pac2
tubulin folding cofactor E
DKFZP43N024
WBSCR13
WS-betaTRP
Williams-Beuren syndrome chromosome region 13
transducin beta like 2
TFIID
TATA-box binding protein
CATCH22
T-box 1
TBS 19
TPIT
T-box 19
T-box 22
TBX3-ISO
XHL
T-box 3
T-box 4
T-box 5
19 kDa sarcomeric protein
CMD1N
T-cap
TELE
telethonin
teneurin C-terminal associated peptide
titin-cap
ATP6N1C
ATP6V0A3
Atp6i
OC-116
OC116
T-cell immune response cDNA 7
TIRC7
T cell immune regulator 1, ATPase H+ transporting V0 subunit a3
TC2
macrocytic anemia
transcobalamin 2
Burn-McKeown syndrome
Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, also known as Burn-McKeown syndrome, is an extremely rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia (see this term) associated with a characteristic cranio-facial dysmorphism (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid (see this term) with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. The features of this syndrome overlaps considerably with those of the CHARGE syndrome (see this term).
Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome
TCS
treacle
treacle ribosome biogenesis factor 1
SCAN1
tyrosyl-DNA phosphodiesterase 1
TEF-1
transcriptional enhancer factor 1
TEA domain transcription factor 1
tectorin alpha
CD202b
TIE-2
TIE2
VMCM1
TEK receptor tyrosine kinase
PRO1557
PRO2086
transferrin
AP2-B
transcription factor AP-2 beta
CGI-75
dimethyladenosine transferase 1, mitochondrial
mtTFB
transcription factor B1, mitochondrial
TFEA
bHLHe33
transcription factor E family, member A
transcription factor binding to IGHM enhancer 3
SPG57
TF6
TRK-fused gene
HFE3
TFRC2
transferrin receptor 2
CED
Camurati-Engelmann disease
TGFbeta
prepro-transforming growth factor beta-1
transforming growth factor beta 1
prepro-transforming growth factor beta-2
transforming growth factor beta 2
prepro-transforming growth factor beta-3
transforming growth factor beta 3
BIGH3
CDB1
CDGG1
transforming growth factor beta induced
ACVRLK4
ALK-5
ALK5
TBR-i
TBRI
activin A receptor type II-like kinase, 53kDa
transforming growth factor beta receptor 1
TBR-ii
TBRII
transforming growth factor beta receptor 2
TGFB induced factor homeobox 1
K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase
LI1
TGASE
TGK
transglutaminase 1
TGMX
TGX
protein-glutamine gamma-glutamyltransferase 5
transglutaminase 5
tyrosine 3-monooxygenase
tyrosine hydroxylase
CD141
thrombomodulin
MPL ligand
MPLLG
TPO
c-mpl ligand
megakaryocyte colony-stimulating factor
megakaryocyte growth and development factor
myeloproliferative leukemia virus oncogene ligand
prepro-thrombopoietin
thrombopoietin nirs variant 1
thrombopoietin
Apple peel syndrome
Intestinal atresia type IIIb
Jejunal atresia
Jejunoileal atresia
Small intestinal atresia
Atresia of small intestine is a special form of intestinal atresia with absence of mesentery, which is most likely due to an intrauterine intestinal vascular accident. Newborns are usually preterm infants with low birth-weights, that encounter feeding difficulties (including vomiting with initial feeds, which may later worsened and the abdomen becomes progressively distended) as well as failure to thrive. Affected children present disrupted bowel loops assuming a spiral configuration resembling an 'apple peel' and may have less than half of the normal length of the small bowel and a physiologically short bowel. Atresia of small intestine is characterized by jejunal atresia near the ligament of Treitz, foreshortened bowel, and a large mesenteric gap. The bowel distal to the atresia is precariously supplied. Atresia of small intestine may be a manifestation of cystic fibrosis (see this term). The most important cause of mortality is short bowel syndrome (see this term), encountered in 65% of cases.
Atresia of small intestine
ERBA-BETA
GRTH
NR1A2
THR1
THRB1
THRB2
avian erythroblastic leukemia viral (v-erb-a) oncogene homolog 2
generalized resistance to thyroid hormone
oncogene ERBA2
thyroid hormone receptor beta 1
thyroid hormone receptor beta
DDP
MTS
translocase of inner mitochondrial membrane 8A
TIMP metallopeptidase inhibitor 3
SCA31
thymidine kinase 2, mitochondrial
transmembrane channel like 1
GDD1
anoctamin 5
JBTS6
Meckelin
NPHP11
transmembrane protein 67
transmembrane inner ear
transmembrane serine protease 3
CD265
FEO
RANK
TNF receptor superfamily member 11a
OCIF
TR1
TNF receptor superfamily member 11b
CD267
IGAD2
TACI
TNF receptor superfamily member 13B
CD120a
TNF-R
TNF-R-I
TNF-R55
TNFAR
TNFR60
TNF receptor superfamily member 1A
DA2B
FSSV
troponin I fast twitch 2
troponin I, fast-twitch skeletal muscle isoform
troponin I2, fast skeletal type
CMH7
TNNC1
troponin I3, cardiac type
ANM
NEM5
STNT
TNT
TNTS
nemaline myopathy type 5
slow skeletal muscle troponin T
troponin T1, skeletal, slow
troponin T1, slow skeletal type
troponin T2, cardiac type
AMCD2B
troponin-T3, skeletal, fast
troponin T3, fast skeletal type
TNXBS
XBS
tenascin XB
Larynx atresia
DQ2
torsin A
torsin family 1 member A
LFS1
Li-Fraumeni syndrome
P53
tumor protein p53
EEC3
KET
NBP
OFC8
SHFM4
p51
p53CP
p63
p73H
p73L
tumor protein p63
triosephosphate isomerase 1
tropomyosin 1
NEM4
nemaline myopathy type 4
tropomyosin 2
TRK
tropomyosin 3
TPX
thyroid peroxidase
TPP I
tripeptidyl peptidase 1
translocated promoter region, nuclear basket protein
MIP-2A
SEDT
TRS20
ZNF547L
trafficking protein particle complex 2
TREM-2
Trem2a
Trem2b
Trem2c
triggering receptor expressed on myeloid cells 2
DRN3
three prime repair exonuclease 1
prothyroliberin
thyrotropin releasing hormone
thyrotropin releasing hormone receptor
RNF82
Tif1a
hTIF1
tripartite motif containing 24
RNF76
tripartite motif containing 27
BBS11
HT2A
TATIP
tripartite motif containing 32
KIAA1113
PTC7
RFG7
TF1G
TIF1G
TIF1GAMMA
TIFGAMMA
ret-fused gene 7
transcriptional intermediary factor 1 gamma
tripartite motif containing 33
KIAA0898
POB1
RING-B-box-coiled-coil protein
TEF3
tripartite motif containing 37
MTO2
tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase
TRP6
transient receptor potential cation channel subfamily C member 6
Duodenal atresia is an embryopathy of the cranial intestine that leads to a complete absence of the duodenal lumen.
Duodenal atresia
CHAK2
transient receptor potential cation channel subfamily M member 6
GC79
LGCR
transcriptional repressor GATA binding 1
KIAA0243
LAM
hamartin
TSC complex subunit 1
PPP1R160
protein phosphatase 1, regulatory subunit 160
tuberin
TSC complex subunit 2
LGR3
thyroid stimulating hormone receptor
BBS8
RP51
tetratricopeptide repeat domain 8
CMH9
CMPD4
LGMD2J
MYLK5
TMD
titin
alpha tocopherol transfer protein
CTS
HsT2651
transthyretin
LCA15
TUBL1
tubby like protein 1
BPES2
CRS1
H-twist
SCS
Saethre-Chotzen syndrome
bHLHa38
twist family bHLH transcription factor 1
OCA1
OCA1A
OCAIA
oculocutaneous albinism IA
tyrosinase
DAP12
DNAX-activation protein 12
KARAP
PLO-SL
killer activating receptor associated protein
TYRO protein tyrosine kinase binding protein
CATB
GP75
OCA3
TRP
b-PROTEIN
tyrosinase related protein 1
ANCR
Angelman syndrome
E6-AP
ubiquitin protein ligase E3A
ubiquitin protein ligase E3 component n-recognin 1
PGP9.5
Uch-L1
ubiquitin thiolesterase
ubiquitin C-terminal hydrolase L1
UGT1A
UDP glucuronosyltransferase family 1 member A1
Tamm-Horsfall glycoprotein
uromucoid
uromodulin
orotate phosphoribosyl transferase and orotidine-5'-decarboxylase
uridine monophosphate synthetase
Munc13-4
unc-13 homolog D
UNC93
unc-93 homolog B1, TLR signaling regulator
UDG
UNG1
UNG2
uracil-DNA glycosylase 1, uracil-DNA glycosylase 2
uracil DNA glycosylase
BUP1
beta-ureidopropionase 1
uroporphyrinogen decarboxylase
congenital erythropoietic porphyria
uroporphyrinogen III synthase
AIE-75
NY-CO-37
NY-CO-38
PDZ-73
PDZ73
PDZD7C
harmonin
USH1 protein network component harmonin
ANKS4A
Sans
USH1 protein network component sans
RP39
usherin
DFFRY
fat facets-like homolog (Drosophila)
ubiquitin specific peptidase 9 Y-linked
ALS8
VAP-B
VAP-C
VAMP associated protein B and C
PG-M
versican proteoglycan
versican
CDC48
IBMPFD
TERA
p97
transitional endoplasmic reticulum ATPase
valosin containing protein
1,25- dihydroxyvitamin D3 receptor
NR1I1
PPP1R163
protein phosphatase 1, regulatory subunit 163
vitamin D receptor
VHL1
von Hippel-Lindau tumor suppressor
CARMQ1
CHRMQ1
VLDLRCH
very low density lipoprotein receptor
KIAA0986
chorein
vacuolar protein sorting 13 homolog A
vacuolar protein sorting 13 homolog B
VPS33B, late endosome and lysosome associated
PPCD1
PPD
visual system homeobox 1
von Willebrand factor
WASP
WASPA
eczema-thrombocytopenia
Wiskott-Aldrich syndrome
Mitral atresia
DIDMOAD
WFS
wolframin ER transmembrane glycoprotein
KMT3G
MMSET
multiple myeloma SET domain containing protein
nuclear receptor binding SET domain protein 2
NELF-A
negative elongation factor complex member A
CCN6
WNT1 inducible signaling pathway protein 3
HSAN2
PPP1R167
protein phosphatase 1, regulatory subunit 167
WNK lysine deficient protein kinase 1
WNK lysine deficient protein kinase 4
WNT-3 proto-oncogene protein
Wnt family member 3
WNT-4
Wnt family member 4
proto-oncogene Wnt7a protein
Wnt family member 7A
RECQ3
RECQL2
Werner syndrome RecQ like helicase
AWT1
NPHS4
WAGR
WIT-2
Wilms tumor 1
FOR
SDR41C1
WOX1
short chain dehydrogenase/reductase family 41C, member 1
WW domain containing oxidoreductase
XOR
xanthine dehydrogenase
Kx antigen
McLeod syndrome
X1k
XKR1
X-linked Kx blood group
XP1
XPAC
XPA, DNA damage recognition and repair factor
RAD4
XPCC
xeroderma pigmentosum group C protein
XPC complex subunit, DNA damage recognition and repair factor
STD
ZAP-70
tyrosine-protein kinase ZAP-70
zeta chain of T-cell receptor associated protein kinase 70
AREB6
BZP
FECD6
NIL-2-A
ZEB
Zfhep
Zfhx1a
zinc finger E-box binding homeobox 1
KIAA0569
SIP-1
SIP1
SMAD interacting protein 1
zinc finger E-box binding homeobox 2
FOG2
ZC2HC11B
ZNF89B
hFOG-2
zinc finger protein, FOG family member 2
ZIC
ZNF201
Zic family member 1
HPE5
Zinc finger protein of the cerebellum 2
Zic family member 2
HTX
ZNF203
Zic family member 3
Zic family member 4
CAAX prenyl protease 1 homolog
FACE-1
Hutchinson-Gilford progeria syndrome
PRO1
STE24
Ste24p
zinc metallopeptidase STE24
HOMG3
PCLN1
hypomagnesemia 3, with hypercalciuria and nephrocalcinosis
paracellin-1
claudin 16
claudin 19
CLIP
CLIP-115
KIAA0291
WSCR3
WSCR4
CAP-Gly domain containing linker protein 2
BTN1
JNCL
juvenile neuronal ceroid lipofuscinosis
CLN3, battenin
CLN5, intracellular trafficking protein
nclf
CLN6, transmembrane ER protein
CLN8, transmembrane ER and ERGIC protein
clarin 1
CNBP1
RNF163
ZCCHC22
CCHC-type zinc finger nucleic acid binding protein
CNG1
RCNC1
RCNCa
RP49
cGMP-gated cation channel alpha-1
cyclic nucleotide gated channel alpha 1
CCNC1
CCNCa
CNG3
cyclic nucleotide gated channel alpha 3
cyclic nucleotide gated channel beta 3
COCH-5B2
cochlin
component of oligomeric golgi complex 7
Schmid metaphyseal chondrodysplasia
collagen type X alpha 1 chain
CO11A1
STL2
collagen XI, alpha-1 polypeptide
collagen type XI alpha 1 chain
HKE5
collagen type XI alpha 2 chain
BP180
collagen type XVII alpha 1 chain
Pulmonary atresia with ventricular septal defect (PA-VSD) is a rare cyanotic congenital heart malformation characterized by underdevelopment of the right ventricular outflow tract and atresia of the pulmonary valve, ventricular septal defect (VSD) and pulmonary collateral vessels. Clinical features depend on the anatomic variability of the lesion and patients may be minimally symptomatic, severely cyanotic or may develop congestive heart failure. PA-VSD may represent a severe form of Tetralogy of Fallot (see this term).
Pulmonary atresia with ventricular septal defect
KNO1
endostatin
collagen type XVIII alpha 1 chain
OI4
collagen type I alpha 1 chain
alpha 2(I)-collagen
alpha-2 collagen type I
collagen I, alpha-2 polypeptide
collagen of skin, tendon and bone, alpha-2 chain
type I procollagen
collagen type I alpha 2 chain
STL1
collagen type II alpha 1 chain
collagen type III alpha 1 chain
collagen type IV alpha 1 chain
tumstatin
collagen type IV alpha 3 chain
CA44
collagen of basement membrane, alpha-4 chain
collagen type IV alpha 4 chain
collagen type IV alpha 5 chain
collagen type IV alpha 6 chain
alpha 1 type V collagen
collagen type V alpha 1 chain
AB collagen
collagen type V alpha 2 chain
collagen type VI alpha 1 chain
collagen type VI alpha 2 chain
collagen type VI alpha 3 chain
LC collagen
collagen VII, alpha-1 polypeptide
collagen type VII alpha 1 chain
FECD1
PPCD
PPCD2
collagen type VIII alpha 2 chain
collagen type IX alpha 1 chain
MED
collagen type IX alpha 2 chain
EDM3
IDD
collagen type IX proteoglycan
collagen type IX alpha 3 chain
AChE Q subunit
EAD
acetylcholinesterase-associated collagen
collagenic tail of endplate acetylcholinesterase
single strand of homotrimeric collagen-like tail subunit of asymmetric acetylcholinesterase
collagen like tail subunit of asymmetric acetylcholinesterase
THBS5
thrombospondin-5
cartilage oligomeric matrix protein
4-hydroxybenzoate polyprenyltransferase
CL640
coenzyme Q2, polyprenyltransferase
heme O synthase
protoheme IX farnesyltransferase, mitochondrial
COX10, heme A:farnesyltransferase cytochrome c oxidase assembly factor
CEMCOX2
COX15, cytochrome c oxidase assembly homolog
ferroxidase
ceruloplasmin
CPAH
carboxypeptidase A6
CPX
HCP
coproporphyria
coproporphyrinogen oxidase
carbamoyl-phosphate synthase (ammonia)
carbamoyl-phosphate synthase 1
CPT1-L
L-CPT1
carnitine palmitoyltransferase 1A
CPTASE
carnitine palmitoyltransferase 2
Pulmonary atresia with intact ventricular septum (PA-IVS) is a rare form of cyanotic congenital heart malformation characterized by severe cyanosis and tachypnea. PA-IVS presents significant morphologic diversity: at the end of the spectrum are patients with a mildly hypoplastic and tripartite right ventricle (RV) and mild tricuspid valve (TV) hypoplasia, and at the other end are patients with severe RV and TV hypoplasia, often with RV-dependent coronary circulation.
Pulmonary atresia-intact ventricular septum syndrome
LCA8
crumbs 1, cell polarity complex component
MRT2
cereblon
CBP
KAT3A
RTS
CREB binding protein
cysteine rich with EGF like domains 1
CRD
LCA7
OTX3
orthodenticle homeobox 3
cone-rod homeobox
HSPB4
crystallin alpha A
HSPB5
crystallin alpha B
eye lens structural protein
crystallin beta A1
crystallin beta A4
crystallin beta B2
crystallin beta B3
crystallin gamma C
crystallin gamma D
CD131
IL5RB
beta common cytokine receptor
beta-GM-CSF receptor
betaGMR
colony stimulating factor 2 receptor beta common subunit
CLP
CMD1M
MLP
cardiac LIM protein
cysteine and glycine rich protein 3
cystatin C
CST6
PME
stefin B
cystatin B
FCP1
CTD phosphatase subunit 1
cystathionine gamma-lyase
CD152
GSE
cytotoxic T-lymphocyte associated protein 4
armadillo
beta-catenin
catenin beta 1
CTNS-LSB
PQLC4
cystinosin, lysosomal cystine transporter
carboxypeptidase C
carboxypeptidase Y-like kininase
carboxypeptidase-L
deamidase
lysosomal carboxypeptidase A
lysosomal protective protein
urinary kininase
cathepsin A
DPP1
dipeptidyl peptidase 1
cathepsin C
PKND
cathepsin K
Tricuspid atresia is (TA) a rare congenital heart malformation characterized by the congenital agenesis of tricuspid valve leading to severe hypoplasia of right ventricle (functionally univentricular). TA is associated with normally related or transposed great vessels (TGV, see this term), an obligatory interatrial connection that is crucial for survival (patent foramen ovale or atrial septal defect, osteum secondum type), ventricular septal defect (in 90% cases), pulmonary outflow obstruction - pulmonary atresia, stenosis or hypoplasia (usually in TA with normally related vessels but also in TGV), aortic coarctation and/or aortic arch interruption (usually in TA with TGV)(see these terms).
Tricuspid atresia
IFCR
gp280
intrinsic factor-cobalamin receptor
cubilin
cullin 4B
dJ20C7.5
cullin 7
CD184
D2S201E
HM89
HSY3RR
LESTR
NPY3R
NPYR
NPYY3R
fusin
C-X-C motif chemokine receptor 4
cytochrome b5 type A
NADH-cytochrome b5 reductase 3
cytochrome b5 reductase 3
GP91-PHOX
NADPH oxidase 2
NOX2
cytochrome b-245 beta chain
KIAA0849
USPL2
ubiquitin specific peptidase like 2
CYLD lysine 63 deubiquitinase
P450SCC
cholesterol monooxygenase (side-chain-cleaving)
cytochrome P450 family 11 subfamily A member 1
CPN1
FHI
steroid 11-beta-monooxygenase
cytochrome P450 family 11 subfamily B member 1
ALDOS
CPN2
CYP11BL
P450aldo
cytochrome P450 family 11 subfamily B member 2
CPT7
S17AH
Steroid 17-alpha-monooxygenase
cytochrome P450 family 17 subfamily A member 1
ARO
ARO1
CPV1
CYAR
P-450AROM
aromatase
cytochrome P450 family 19 subfamily A member 1
CP1B
cytochrome P450 family 1 subfamily B member 1
CA21H
CAH1
CPS1
Steroid 21-monooxygenase
cytochrome P450 family 21 subfamily A member 2
CP27
CTX
cerebrotendinous xanthomatosis
cytochrome P450 family 27 subfamily A member 1
1alpha(OH)ase
25-Hydroxyvitamin D3 1alpha-hydroxylase
CYP1
Calcidiol 1-monooxygenase
P450c1
VDDR I
cytochrome P450 family 27 subfamily B member 1
Vitamin D 25-hydroxylase
cytochrome P450 family 2 subfamily R member 1
CYP4AH1
cytochrome P450 family 4 subfamily V member 2
cytochrome P450 family 7 subfamily B member 1
D2HGD
D-2-hydroxyglutarate dehydrogenase
SPGY
deleted in azoospermia 1
pDP1678
deleted in azoospermia 2
deleted in azoospermia 3
deleted in azoospermia 4
DBM
dopamine beta-monooxygenase
dopamine beta-hydroxylase
dihydrolipoyllysine-residue (2-methylpropanoyl)transferase
lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial
dihydrolipoamide branched chain transacylase E2
A-SCID
ARTEMIS
PSO2 homolog (S. cerevisiae)
SNM1C
DNA cross-link repair 1C
DSPG2
SLRR1B
decorin proteoglycan
decorin
DBCN
LISX
SCLH
XLIS
doublecortex
doublecortin
DDB p48 subunit
DDBB
UV-DDB2
UV-damaged DNA-binding protein 2
XPE
xeroderma pigmentosum group E protein
damage specific DNA binding protein 2
AADC
aromatic L-amino acid decarboxylase
dopa decarboxylase
CMD1I
CSM1
CSM2
intermediate filament protein
desmin
ICERE-1
inversely correlated with estrogen receptor expression
gasdermin E
dGK
deoxyguanosine kinase
Delta(24)-sterol reductase
KIAA0018
seladin-1
24-dehydrocholesterol reductase
7-dehydrocholesterol reductase
HHG-3
desert hedgehog
LFHL1
hDIA1
diaphanous related formin 1
DISC1 scaffold protein
Cbf5
H/ACA ribonucleoprotein complex subunit 4
NAP57
NOLA4
XAP101
dyskerin
dyskerin pseudouridine synthase 1
E2 component of pyruvate dehydrogenase complex
PDC-E2
dihydrolipoyllysine-residue acetyltransferase
dihydrolipoamide S-acetyltransferase
use http://www.orpha.net/ORDO/Orphanet_86819 with label: Atrichia with papular lesions
OBSOLETE: Atrichia-mental and growth delay syndrome
DLDH
E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex
dihydrolipoamide dehydrogenase
SCDO1
delta like canonical Notch ligand 3
distal-less homeobox 3
DXS142
DXS164
DXS206
DXS230
DXS239
DXS268
DXS269
DXS270
DXS272
muscular dystrophy, Duchenne and Becker types
dystrophin
dentin matrix acidic phosphoprotein 1
DM protein kinase
DM1PK
DMK
MDPK
MT-PK
Myotonin-protein kinase
dystrophia myotonica 1
myotonic dystrophy associated protein kinase
myotonin protein kinase A
thymopoietin homolog
DM1 protein kinase
CILD7
DNAHBL
DNHBL
DPL11
Dnahc11
dynein, ciliary, heavy chain 11
dynein, heavy chain beta-like
dynein axonemal heavy chain 11
CILD3
Dnahc5
HL1
KTGNR
PCD
dynein heavy chain 5
dynein axonemal heavy chain 5
CILD1
DIC1
dynein axonemal intermediate chain 1
CMT2M
CMTDI1
DI-CMTB
DYN2
DYNII
cytoskeletal protein
dynamin II
dynamin 2
DNA methyltransferase 3 beta
Dok-7
docking protein 7
ALG7
CDG-Ij
DGPT
GPT
GlcNAc-1-P transferase 1
UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase 1
dolichyl-phosphate N-acetylglucosaminephosphotransferase 1
CDGIE
DPM synthase complex, catalytic subunit
MPDS
dolichyl-phosphate mannosyltransferase subunit 1, catalytic
DPD
dihydropyrimidine dehydrogenase
DHPase
dihydropyrimidinase
dopamine receptor D2
CDHF2
desmocollin 2
CDHF4
desmoglein 1
CDHF5
desmoglein 2
DPI
DPII
KPPS2
PPKS2
desmoplakin
DMP3
dentin sialophosphoprotein
DRP3
DTN
DTN-1
DTN-2
DTN-3
dystrophin-related protein 3
dystrobrevin alpha
BLOC1S8
DBND
Dysbindin
HPS7
My031
biogenesis of lysosomal organelles complex-1, subunit 8
dysbindin-1
dystrobrevin binding protein 1
LNOX2
NADH/NADPH thyroid oxidase p138-tox
NADPH oxidase/peroxidase DUOX2
NADPH thyroid oxidase 2
P138(TOX)
P138-TOX
THOX2
dual oxidase-like domains 2
flavoprotein NADPH oxidase
nicotinamide adenine dinucleotide phosphate oxidase
dual oxidase 2
double homeobox 4 like 1
DMC
SMC
dymeclin
FER1L1
fer-1-like family member 1
dysferlin
3-beta-hydroxysteroid-delta-8,delta-7-isomerase
CHO2
CPXD
Chondrodysplasia punctata-2, X-linked dominant (Happle syndrome)
sterol 8-isomerase
EBP, cholestenol delta-isomerase
endothelin converting enzyme 1
extracellular matrix protein 1
ED1-A1
ED1-A2
EDA-A1
EDA-A2
EDA1
HED
XHED
XLHED
ectodysplasin A
ED1R
ED5
EDA1R
EDA3
Edar
ectodysplasin A receptor
EDAR associated death domain
ET3
endothelin 3
ETB
endothelin receptor type B
FBLN3
MTLV
fibulin 3
EGF containing fibulin extracellular matrix protein 1
FBLN4
UPH1
fibulin 4
EGF containing fibulin extracellular matrix protein 2
myoclonin-1
EF-hand domain containing 1
Elk-L
LERK2
ephrin B1
ERBB1
erb-b2 receptor tyrosine kinase 1
erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)
epidermal growth factor receptor
Krox-20 homolog, Drosophila
early growth response 2
PEK
PERK
eukaryotic translation initiation factor 2 alpha kinase 3
EIF-2B
EIF-2Balpha
EIF2BA
eukaryotic translation initiation factor 2B subunit alpha
EIF-2Bbeta
EIF2B
eukaryotic translation initiation factor 2B subunit beta
EIF2Bgamma
eukaryotic translation initiation factor 2B subunit gamma
EIF2Bdelta
eukaryotic translation initiation factor 2B subunit delta
EIF2Bepsilon
eukaryotic translation initiation factor 2B subunit epsilon
AMPD isoform M
MAD
MADA
skeletal muscle AMPD
adenosine monophosphate deaminase 1
erythrocyte-specific AMP deaminase
adenosine monophosphate deaminase 3
GCST
NKH
glycine cleavage system protein T
aminomethyltransferase
SPH1
ankyrin 1
ankyrin 2
ANK
CPPDD
HANK
SLC62A1
ANKH inorganic pyrophosphate transport regulator
CMG-2
CMG2
capillary morphogenesis protein 2
ANTXR cell adhesion molecule 2
ADTB3A
HPS2
adaptor related protein complex 3 subunit beta 1
apolipoprotein A1
APOA-V
RAP3
apolipoprotein A5
apolipoprotein B
apolipoprotein C2
apolipoprotein E
peptidase nexin-II
amyloid beta precursor protein
Hemifacial atrophy
PHA
Parry-Romberg syndrome
Progressive facial hemiatrophy
Romberg syndrome
Progressive hemifacial atrophy (PHA) is a rare acquired disorder, characterized by unilateral slowly progressive atrophy of the skin and soft tissues of half of the face leading to a sunken appearance. Muscles, cartilage and the underlying bony structures may also be involved.
Progressive hemifacial atrophy
adenine phosphoribosyltransferase
AOA
EAOH
EOAHA
aprataxin
aquaporin 2
BIG2
Brefeldin A-inhibited guanine nucleotide-exchange protein 2
ADP ribosylation factor guanine nucleotide exchange factor 2
arginase 1
ADP-ribosylation factor-like tumor suppressor gene 1
ARLTS1
ADP ribosylation factor like GTPase 11
RP55
ADP ribosylation factor like GTPase 6
metachromatic leucodystrophy
arylsulfatase A
arylsulfatase B
arylsulfatase E (chondrodysplasia punctata 1)
ARVCF, delta catenin family member
CT121
EIEE1
ISSX
cancer/testis antigen 121
aristaless related homeobox
ACDase
PHP32
acid ceramidase
acylsphingosine deacylase
N-acylsphingosine amidohydrolase 1
argininosuccinate lyase
ACY2
ASP
Canavan disease
aminoacylase 2
aspartoacylase
Calmbp1
abnormal spindle microtubule assembly
CTLN1
argininosuccinate synthase 1
BNIP-H
Cayman ataxia
caytaxin
ATCAY, caytaxin
TEL1
TEL1, telomere maintenance 1, homolog (S. cerevisiae)
TELO1
ATM serine/threonine kinase
B37
atrophin 1
ATPVA
ATPVC
KIAA0566
ATPase phospholipid transporting 10A (putative)
CLN12
HSA9947
ATPase cation transporting 13A2
FHM2
sodium pump subunit alpha-2
sodium-potassium ATPase catalytic subunit alpha-2
sodium/potassium-transporting ATPase subunit alpha-2
ATPase Na+/K+ transporting subunit alpha 2
DOA+
Optic atrophy-deafness-polyneuropathy-myopathy syndrome
Autosomal dominant optic atrophy plus syndrome (ADOA plus) is a variant of autosomal dominant optic atrophy (ADOA; see this term) associating the typical optic atrophy with other extra-ocular manifestations such as sensorineural deafness, myopathy, chronic progressive external ophthalmoplegia, ataxia and peripheral neuropathy. More rarely, other manifestations have been associated with this condition, such as spastic paraplegia, multiple-sclerosis like illness.
Autosomal dominant optic atrophy plus syndrome
sodium pump subunit alpha-3
sodium-potassium ATPase catalytic subunit alpha-3
sodium/potassium-transporting ATPase subunit alpha-3
ATPase Na+/K+ transporting subunit alpha 3
HLE
HNE
leukocyte elastase
medullasin
neutrophil elastase
elastase, neutrophil expressed
HPC2
tRNase Z (long form)
elaC ribonuclease Z 2
SVAS
WBS
Williams-Beuren syndrome
supravalvular aortic stenosis
tropoelastin
elastin
CT118
cancer/testis antigen 118
ELOVL fatty acid elongase 4
LEM domain containing 5
LEMD5
STA
emerin
empty spiracles homeobox 2
enamelin
CD105
END
HHT1
endoglin
beta-enolase
muscle enriched enolase
enolase 3
PC-1
PCA1
ectonucleotide pyrophosphatase/phosphodiesterase 1
KAT3B
histone acetyltransferase p300
E1A binding protein p300
erythrocyte membrane protein band 4.1
Hek5
Tyro5
EPH receptor B2
epoxide hydrolase 1
LDE
EPM2A, laforin glucan phosphatase
erythropoietin receptor
CAST2
ELKS
KIAA1081
ELKS/RAB6-interacting/CAST family member 1
EM9
MAG
TFIIH
TFIIH basal transcription factor complex helicase XPB subunit
excision repair cross-complementing rodent repair deficiency, complementation group 2 protein
ERCC excision repair 2, TFIIH core complex helicase subunit
FANCQ
RAD1
xeroderma pigmentosum, complementation group F
ERCC excision repair 4, endonuclease catalytic subunit
ARMD5
CSB
Cockayne syndrome B protein
RAD26
ERCC excision repair 6, chromatin remodeling factor
Autosomal dominant benign distal spinal muscular atrophy
Congenital benign spinal muscular atrophy with contractures
Congenital nonprogressive spinal muscular atrophy
Autosomal dominant congenital benign spinal muscular atrophy is a rare distal hereditary motor neuropathy, with a variable clinical phenotype, typically characterized by congenital, non-progressive, predominantly distal, lower limb muscle weakness and atrophy and congenital (or early-onset) flexion contractures of the hip, knee and ankle joints. Reduced or absent lower limb deep tendon reflexes, skeletal anomalies (bilateral talipes equinovarus, scoliosis, kyphoscoliosis, lumbar hyperlordisis), late ambulation, waddling gait, joint hyperlaxity and/or bladder and bowel dysfuntion are usually also associated.
Autosomal dominant congenital benign spinal muscular atrophy
CSA
ERCC excision repair 8, CSA ubiquitin ligase complex subunit
TMPRSS2-ERG prostate cancer specific
erg-3
p55
transcriptional regulator ERG (transforming protein ERG)
v-ets erythroblastosis virus E26 oncogene like
ERG, ETS transcription factor
EFO2
establishment of sister chromatid cohesion N-acetyltransferase 2
E2 receptor alpha
ER-alpha
Era
NR3A1
estrogen receptor alpha
nuclear receptor subfamily 3 group A member 1
oestrogen receptor alpha
estrogen receptor 1
EMA
GA2
MADD
glutaric aciduria II
electron transfer flavoprotein subunit alpha
electron transfer flavoprotein subunit beta
ETFQO
electron transfer flavoprotein dehydrogenase
HSCO
YF13H12
ETHE1, persulfide dioxygenase
ER81
ETS variant 1
DWF-1
EvC ciliary complex subunit 1
LBN
limbin
EvC ciliary complex subunit 2
EWS
EWS RNA binding protein 1
Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase
N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase
ttv
exostosin glycosyltransferase 1
SOTV
exostosin glycosyltransferase 2
EYA transcriptional coactivator and phosphatase 1
EYA transcriptional coactivator and phosphatase 4
coagulation factor X
FXI
plasma thromboplastin antecedent
coagulation factor XI
coagulation factor XII
coagulation factor XIII A chain
FXIIIB
coagulation factor XIII B chain
prepro-coagulation factor II
coagulation factor II, thrombin
coagulation factor V
FVII coagulation protein
eptacog alfa
factor VII
coagulation factor VII
DXS1253E
FVIII
Factor VIIIF8B
HEMA
hemophilia A
coagulation factor VIII
Christmas disease
FIX
Factor IX
hemophilia B
plasma thromboplastic component
coagulation factor IX
fumarylacetoacetase
fumarylacetoacetate hydrolase
DRCTNNB1A
HCC
HYCC1
down regulated by Ctnnb1, a
hyccin
family with sequence similarity 126 member A
FA-H
FAA
FAH
FA complementation group A
Hamano-Tsukamoto syndrome
Spinal atrophy-ophthalmoplegia-pyramidal syndrome is a rare, bulbospinal muscular atrophy characterized by generalized neonatal hypotonia, progressive pontobulbar and spinal palsy, pyramidal signs, and deafness. External ophthalmoplegia and bilateral mydriasis are typical signs. There have been no further descriptions in the literature since 1994.
Spinal atrophy-ophthalmoplegia-pyramidal syndrome
FAAP95
FAB
FA complementation group B
FA3
FAC
FA complementation group C
FA-D2
FA complementation group D2
FAE
FA complementation group E
FAF
FA complementation group F
DNA repair protein XRCC9
FAG
X-ray repair complementing defective repair in Chinese hamster cells 9
X-ray repair, complementing defective, in Chinese hamster, 9
FA complementation group G
FAAP43
Pog
FA complementation group L
FAAP250
FA complementation group M
APO-1
CD95
TNF receptor superfamily member 6
Fas cell surface death receptor
CD178
FasL
Fas ligand
ARMD3
DANCE
EVEC
UP50
fibulin 5
MASS
Marfan syndrome
OCTD
SGS
asprosin
fibrillin 1
DA9
fibrillin 5
fibrillin 2
fructose-bisphosphatase 1
LGMD2M
fukutin
protoporphyria
ferrochelatase
fibrinogen alpha chain
fibrinogen beta chain
ZFYVE3
FYVE, RhoGEF and PH domain containing 1
fibroblast growth factor 10
FHF4
SCA27
fibroblast growth factor 14
fibroblast growth factor 23
BFGFR
CD331
CEK
FLG
N-SAM
Pfeiffer syndrome
fibroblast growth factor receptor 1
CD333
CEK2
JTK4
fibroblast growth factor receptor 3
fibrinogen gamma chain
fumarase
fumarate hydratase
AP3Aase
FRA3B
fragile histidine triad
FIP1
factor interacting with PAPOLA and CPSF1
LGMD2I
MDC1C
fukutin related protein
BHD
folliculin
EWSR2
SIC-1
Fli-1 proto-oncogene, ETS transcription factor
FLI
FLIL
Fli1
FLII, actin remodeling protein
ABP-280
actin binding protein 280
alpha filamin
filamin A
ABP-278
FH1
TABP
TAP
actin binding protein 278
beta filamin
filamin B
ABPL
gamma filamin
filamin C
PCL
VEGFR3
fms related tyrosine kinase 4
flavin containing monooxygenase 3
FMRP
FRAXA
fragile X mental retardation 1
ARA
FREAC3
IGDA
IHG1
forkhead box C1
MFH-1
mesenchyme forkhead 1
forkhead box C2
HFKH4
TTF-2
thyroid transcription factor 2
forkhead box E1
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_794 with label: Saethre-Chotzen syndrome
FREAC8
forkhead box E3
BPES1
forkhead box L2
FKH1
forkhead box O1
AIID
DIETER
JM2
PIDX
SCURFIN
XPID
forkhead box P3
KIAA1500
Fraser extracellular matrix complex subunit 1
FRAS1 related extracellular matrix protein 2
FRG1A
FSG1
FSHD region gene 1
RFSN
RP30
fascin actin-bundling protein 2, retinal
follitropin, beta chain
follicle stimulating hormone subunit beta
FSHRO
LGR1
follicle stimulating hormone receptor
formimidoyltransferase cyclodeaminase
L apoferritin
NBIA3
ferritin L subunit
ferritin L-chain
ferritin light polypeptide-like 3
neurodegeneration with brain iron accumulation 3
ferritin light chain
CDLIV
JM23
SPB1
TRM7
TRMT7
tRNA methyltransferase 7 homolog (S. cerevisiae)
FtsJ RNA methyltransferase homolog 1
#945;-L-fucosidase 1
a-L-fucosidase 1
tissue fucosidase
α-L-fucosidase 1
alpha-L-fucosidase 1
CyaY
FARR
X25
frataxin
FXYD domain containing ion transport regulator 2
CD344
frizzled class receptor 4
GSD1a
glycogen storage disease type I, von Gierke disease
glucose-6-phosphatase catalytic subunit
G6PD1
glucose-6-phosphate dehydrogenase
Pompe disease
glycogen storage disease type II
glucosidase alpha, acid
EJM5
GABA(A) receptor, alpha 1
gamma-aminobutyric acid type A receptor alpha1 subunit
GABA(A) receptor, delta
gamma-aminobutyric acid type A receptor delta subunit
GABA(A) receptor, gamma 2
gamma-aminobutyric acid type A receptor gamma2 subunit
Krabbe disease
galactosylceramidase
SDR1E1
UDP-glucose 4-epimerase
short chain dehydrogenase/reductase family 1E, member 1
UDP-galactose-4-epimerase
galactokinase 1
Fibrofolliculomas with trichodiscomas and acrochordons
Birt-Hogg-Dube (BHD) syndrome is characterized by skin lesions, kidney tumors, and pulmonary cysts that may be associated with pneumothorax. It is a rare clinicopathologic condition named after the three Canadian physicians who reported the syndrome in 1977.
Birt-Hogg-Dubé syndrome
GALNAC6S
GAS
Morquio syndrome
mucopolysaccharidosis type IVA
galactosamine (N-acetyl)-6-sulfatase
GalNAc-T3
HFTC
HHS
polypeptide GalNAc transferase 3
polypeptide N-acetylgalactosaminyltransferase 3
galactose-1-phosphate uridylyltransferase
PIG2
TP53I2
guanidinoacetate N-methyltransferase
GAN1
KLHL16
kelch-like family member 16
gigaxonin
DSMAV
GlyRS
SMAD1
glycine tRNA ligase
glycyl-tRNA synthetase
ERYF1
GATA-1
NF-E1
NFE1
nuclear factor, erythroid 1
GATA binding protein 1
HDR
GATA binding protein 3
GATA binding protein 4
AGAT
L-arginine:glycine amidinotransferase
glycine amidinotransferase
GBA1
glucosylceramidase beta
Andersen disease
glycogen branching enzyme
glycogen storage disease type IV
1,4-alpha-glucan branching enzyme 1
ACAD5
glutaryl-CoA dehydrogenase
DYT5a
GTPCH1
dopa-responsive dystonia
GTP cyclohydrolase 1
HK4
hexokinase 4
glucokinase
GCS
glutamate-cysteine ligase catalytic subunit
lipoic acid-containing protein
glycine cleavage system protein H
CMT2K
CMT4
ganglioside induced differentiation associated protein 1
BMP14
CDMP1
cartilage-derived morphogenetic protein-1
growth differentiation factor 5
OPHN2
RABGDIA
XAP-4
mental retardation, X-linked 41
mental retardation, X-linked 48
rab GDP-dissociation inhibitor, alpha
GDP dissociation inhibitor 1
ATF1
ATF2
HFB1-GDNF
astrocyte-derived trophic factor
glial cell line derived neurotrophic factor
glial derived neurotrophic factor
glial cell derived neurotrophic factor
glial fibrillary acidic protein
GFI-1
GFI1A
growth factor independent 1 transcriptional repressor
VKCFD1
peptidyl-glutamate 4-carboxylase
vitamin K-dependent gamma-carboxylase
gamma-glutamyl carboxylase
GH-N
GHN
hGH-N
pituitary growth hormone
somatotropin
growth hormone 1
GHBP
growth hormone binding protein
growth hormone receptor
growth hormone releasing hormone receptor
IFMH
INF
TCN3
gastric intrinsic factor
Cheilitis glandularis (CG) is an uncommon chronic inflammatory disease of unknown origin characterized by macrocheilia and secretions of thick saliva from swollen labial minor salivary glands.
Cheilitis glandularis
CX43
ODD
ODOD
SDTY3
connexin 43
oculodentodigital dysplasia (syndactyly type III)
gap junction protein alpha 1
CX46.6
CX47
SPG44
connexin 47
gap junction protein gamma 2
CX46
connexin 46
gap junction protein alpha 3
CX50
connexin 50
gap junction protein alpha 8
CX32
Charcot-Marie-Tooth neuropathy, X-linked
connexin 32
gap junction protein beta 1
CX26
NSRD1
connexin 26
gap junction protein beta 2
CX31
connexin 31
gap junction protein beta 3
CX30.3
connexin 30.3
gap junction protein beta 4
CX30
EDH
connexin 30
gap junction protein beta 6
GK1
GKD
glycerol kinase
GALA
galactosidase alpha
EBP
galactosidase beta 1
GCSP
glycine cleavage system protein P
glycine dehydrogenase
glycine decarboxylase
ACLS
DNA-binding protein
PAP-A
PAPA
PAPA1
PAPB
PPDIV
oncogene GLI3
zinc finger protein GLI3
GLI family zinc finger 3
FAP48
FKBPAP
GLML
GVM
glomulin, FKBP associated protein
stiff person syndrome
glycine receptor alpha 1
glycine receptor beta
GDH
glutamate dehydrogenase 1
SAP-3
cerebroside sulfate activator protein
sphingolipid activator protein 3
GM2 ganglioside activator
G protein subunit alpha S
GNASXL
GPSA
NESP
NESP55
SCG6
SgVI
secretogranin VI
GNAS complex locus
CSNBAD3
G protein subunit alpha transducin 1
ACHM4
G protein subunit alpha transducin 2
Uae1
bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
DAP-AT
DAPAT
DHAPAT
dihydroxyacetone phosphate acyltransferase
glycerone-phosphate O-acyltransferase
glyceronephosphate O-acyltransferase
KIAA1208
MGC4170
N-acetylglucosamine-1-phosphate transferase subunits alpha and beta
GlcNAc-phosphotransferase gamma-subunit
N-acetylglucosamine-1-phosphate transferase subunit gamma
LHRHR
gonadotropin releasing hormone receptor
N-acetylglucosamine-6-sulfatase
Sanfilippo disease IIID
glucosamine (N-acetyl)-6-sulfatase
GOLIM5
golgi integral membrane protein 5
golgin-84
ret-II
rfg5
golgin A5
CD42b
GPIbalpha
platelet glycoprotein Ib alpha chain
glycoprotein Ib platelet subunit alpha
CD42c
GPIbbeta
platelet glycoprotein Ib beta chain
glycoprotein Ib platelet subunit beta
CD42a
GPIX
platelet glycoprotein IX
glycoprotein IX platelet
DGSX
OCI-5
SGB
SGBS
SGBS1
glypican proteoglycan 3
glypican 3
KIAA1385
gephyrin
AMF
NLK
glucose-6-phosphate isomerase
ocular albinism 1
G protein-coupled receptor 143
TM7LN4
TM7XN1
adhesion G protein-coupled receptor G1
FEB4
KIAA0686
VLGR1
adhesion G protein-coupled receptor V1
PH2
primary hyperoxaluria type 2
glyoxylate and hydroxypyruvate reductase
GLURC
GluA3
MRX94
glutamate ionotropic receptor AMPA type subunit 3
GPRK1
G protein-coupled receptor kinase 1
CSNB1B
GPRC1F
MGLUR6
mGlu6
glutamate metabotropic receptor 6
amyloidosis, Finnish type
gelsolin
glutathione S-reductase
glutathione-disulfide reductase
Balantidiosis
Ciliary dysentery
, a single celled parasite (ciliate protozoan) that is usually associated with intestinal infection in areas associated with pig rearing. It infects humans occasionally, mostly immunocompromised patients. Some infected people may have no symptoms or only mild diarrhea and abdominal discomfort but others may experience more severe symptoms reminiscent of an acute inflammation of the intestines. Symptoms of Balantidiasis may be similar to those of other infections that cause intestinal inflammation, for example, amoebic dysentery. On very rare occasions this bacterium may invade extra-intestinal organs, mostly the lungs. Metronidazole is the treatment of choice.
Balantidiasis
glutathione synthetase
DNA repair syndrome trichothiodystrophy group A
TFB5
TTD-A
TTDA
general transcription factor IIH subunit 5
BAP-135
BTKAP1
DIWS
IB291
SPIN
TFII-I
general transcription factor IIi
BEN
Cream1
GTF3
MusTRD1
RBAP2
WBSCR12
binding factor for early enhancer
GTF2I repeat domain containing 1
COD3
CORD14
GCAP
GCAP1
cone dystrophy 3
guanylate cyclase activator 1A
CYGD
LCA1
RETGC-1
ROS-GC1
retGC
retinal guanylate cyclase 1
rod outer segment membrane guanylate cyclase
guanylate cyclase 2D, retinal
glucuronidase beta
glycogen synthase 2
HADH1
SCHAD
hydroxyacyl-CoA dehydrogenase
histidine ammonia-lyase
HEPC
HFE2B
LEAP-1
LEAP1
hepcidin antimicrobial peptide
HCLS1 (and PKD2) associated protein
HCLSBP1
HS1BP1
HCLS1 associated protein X-1
HBA-T2
hemoglobin subunit alpha 2
CD113t-C
beta-globin
hemoglobin subunit beta
CCHL
cytochrome c heme-lyase
holocytochrome c synthase
hyperpolarization activated cyclic nucleotide gated potassium channel 4
PPOX
orexin
prepro-orexin
hypocretin neuropeptide precursor
IT15
huntingtin
ANF
RPX
HESX homeobox 1
GM2 gangliosidosis
Tay Sachs disease
beta-hexosaminidase subunit alpha
hexosaminidase subunit alpha
beta-hexosaminidase subunit beta
hexosaminidase subunit beta
HGO
homogentisate oxidase
homogentisate 1,2-dioxygenase
HGNAT
heparan-alpha-glucosaminide N-acetyltransferase
ZBTB29
ZNF901
HIC ZBTB transcriptional repressor 1
hexokinase 1
major histocompatibility complex, class I, B
major histocompatibility complex, class II, DR alpha
major histocompatibility complex, class II, DR beta 1
HCS
holocarboxylase synthetase
hydroxymethylbilane synthase
hydroxymethylglutaricaciduria
3-hydroxymethyl-3-methylglutaryl-CoA lyase
3-hydroxy-3-methylglutaryl-CoA synthase 2
HNF4
NR2A1
hepatocyte nuclear factor 4 alpha
homeobox A13
homeobox D13
4-HPPD
4HPPD
GLOD3
glyoxalase domain containing 3
4-hydroxyphenylpyruvate dioxygenase
HGPRT
Lesch-Nyhan syndrome
hypoxanthine phosphoribosyltransferase 1
BLOC3S1
HPS1, biogenesis of lysosomal organelles complex 3 subunit 1
BLOC2S1
SUTAL
HPS3, biogenesis of lysosomal organelles complex 2 subunit 1
BLOC3S2
KIAA1667
HPS4, biogenesis of lysosomal organelles complex 3 subunit 2
AIBP63
BLOC2S2
RU2
Ruby-eye protein 2 homolog
alpha-integrin-binding protein 63
HPS5, biogenesis of lysosomal organelles complex 2 subunit 2
BLOC2S3
HPS6, biogenesis of lysosomal organelles complex 2 subunit 3
HR, lysine demethylase and nuclear receptor corepressor
HRas proto-oncogene, GTPase
Baller-Gerold syndrome is characterized by the association of coronal craniosynostosis with radial ray anomalies (oligodactyly, aplasia or hypoplasia of the thumb, aplasia or hypoplasia of the radius).
Baller-Gerold syndrome
SDR9C3
short chain dehydrogenase/reductase family 9C, member 3
hydroxysteroid 11-beta dehydrogenase 2
17b-HSD10
AB-binding alcohol dehydrogenase
ABAD
CAMR
ERAB
MHBD
MRPP2
SDR5C1
mitochondrial RNase P subunit 2
short chain dehydrogenase/reductase family 5C, member 1
type 10 17b-HSD
type 10 17beta-hydroxysteroid dehydrogenase
hydroxysteroid 17-beta dehydrogenase 10
SDR12C2
short chain dehydrogenase/reductase family 12C, member 2
hydroxysteroid 17-beta dehydrogenase 3
17-beta-HSD IV
17-beta-hydroxysteroid dehydrogenase 4
17beta-estradiol dehydrogenase type IV
3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase
D-3-hydroxyacyl-CoA dehydratase
D-bifunctional protein, peroxisomal
DBP
MFE-2
SDR8C1
beta-hydroxyacyl dehydrogenase
beta-keto-reductase
peroxisomal multifunctional protein 2
short chain dehydrogenase/reductase family 8C, member 1
hydroxysteroid 17-beta dehydrogenase 4
SDR11E2
short chain dehydrogenase/reductase family 11E, member 2
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
C(27)-3BETA-HSD
SDR11E3
short chain dehydrogenase/reductase family 11E, member 3
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
heat shock transcription factor 4
CMT2F
HSP27
HSP28
Hsp25
heat shock protein family B (small) member 1
CMT2L
E2IG1
H11
HSP22
HspB8
heat shock protein family B (small) member 8
PASS1
HSPB1 associated protein 1
GROEL
HSP60
heat shock protein family D (Hsp60) member 1
PRCAN
perlecan
perlecan proteoglycan
heparan sulfate proteoglycan 2
OMI
PARK13
HtrA serine peptidase 2
FUS2
HYAL-1
LUCA1
NAT6
hyaluronoglucosaminidase 1
HYLS1, centriolar and ciliogenesis associated
AILIM
CD278
activation-inducible lymphocyte immunomediatory molecule
inducible T cell costimulator
Hunter syndrome
iduronate 2-sulfatase
MPS1
iduronidase, alpha-L-
interferon gamma
CD119
interferon gamma receptor 1
AF-1
interferon gamma receptor 2
alpha 4
immunoglobulin binding protein 1
IGF-I
IGF1A
IGFI
somatomedin C
insulin like growth factor 1
immunoglobulin heavy constant gamma 1 (G1m marker)
immunoglobulin heavy constant mu
CATF1
CMT2S
HCSA
HMN6
SMARD1
SMUBP2
ZFAND7
cardiac transcription factor 1
zinc finger, AN1-type domain 7
immunoglobulin mu binding protein 2
CD179B
IGL5
IGVPB
lambda 5
immunoglobulin lambda like polypeptide 1
Athyroidal hypothyroidism-spiky hair-cleft palate syndrome
Bamforth syndrome
Hypothyroidism-cleft palate syndrome
Bamforth-Lazarus syndrome is a very rare syndrome of congenital hypothyroidism characterized by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases.
Bamforth-Lazarus syndrome
BDA1
HHG2
indian hedgehog
IKAP
IKI3
TOT1
elongator acetyltransferase complex subunit 1
elongator complex protein 1
FIP-3
FIP3
Fip3p
IKK-gamma
NEMO
ZC2HC9
inhibitor of nuclear factor kappa B kinase subunit gamma
CSIF
IL-10
IL10A
T-cell growth inhibitory factor
TGIF
cytokine synthesis inhibitory factor
interleukin 10
CLMF
CLMF2
IL-12B
IL12, subunit p40
NKSF
cytotoxic lymphocyte maturation factor 2, p40
interleukin 12, p40
interleukin-12 beta chain
natural killer cell stimulatory factor, 40 kD subunit
natural killer cell stimulatory factor-2
interleukin 12B
CD212
interleukin 12 receptor subunit beta 1
IL-23R
interleukin 23 receptor
CD132
interleukin 2 receptor subunit gamma
LCA11
sWSS2608
inosine monophosphate dehydrogenase 1
growth inhibitor ING1
growth inhibitory protein ING1
inhibitor of growth 1
p24ING1c
p33
p33ING1
p33ING1b
p47
p47ING1a
tumor suppressor ING1
inhibitor of growth family member 1
CD220
insulin receptor
nephrocystin 2
inversin
KIAA0036
NPHP5
SLSN5
nephrocystin-5
IQ motif containing B1
NY-REN-64
interleukin 1 receptor associated kinase 4
OFC6
VWS1
interferon regulatory factor 6
CD41
CD41B
PPP1R93
platelet glycoprotein IIb of IIb/IIIa complex
protein phosphatase 1, regulatory subunit 93
integrin subunit alpha 2b
CD49f
integrin subunit alpha 6
LFA-1
MAC-1
complement component 3 receptor 3 and 4 subunit
integrin subunit beta 2
Ataxia-diabetes-goiter-gonadal insufficiency syndrome
Bangstad syndrome is a rare endocrine disease characterized by the association of primordial birdheaded nanism, progressive ataxia, goiter, primary gonadal insufficiency and insulin resistant diabetes mellitus. Plasma concentrations of TSH, PTH, LH, FSH, ACTH, glucagon, and insulin are usually elevated. A generalized cell membrane defect was suggested to be the pathophysiological abnormality in these patients. The mode of inheritance was thought to be autosomal recessive. There have been no further descriptions in the literature since 1989.
Bangstad syndrome
CD61
GPIIIa
antigen CD61
platelet glycoprotein IIIa
integrin subunit beta 3
CD104
integrin subunit beta 4
BRI
BRI2
BRICD2B
BRICHOS domain containing 2B
E25B
integral membrane protein 2B
ACAD2
isovaleryl-CoA dehydrogenase
AHD
AWS
CD339
HJ1
jagged 1
JTK10
Janus kinase 2
JAK-3
JAK3_HUMAN
JAKL
L-JAK
LJAK
leukocyte Janus kinase
tyrosine-protein kinase JAK3
Janus kinase 3
DXS1272E
XE169
lysine demethylase 5C
CAGL237
HDL2
JP-3
JP3
junctophilin 3
DP3
DPIII
PDGB
PKGB
junction plakoglobin
Adhesion molecule-like, X-linked
KALIG-1
Kallmann syndrome interval gene 1
WAP four-disulfide core domain 19
WFDC19
anosmin-1
anosmin 1
HUK1
Kv1.1
MBK1
RBK1
potassium voltage-gated channel subfamily A member 1
ISK
JLNS2
LQT5
minK
potassium voltage-gated channel subfamily E regulatory subunit 1
potassium voltage-gated channel subfamily E regulatory subunit 5
LQT6
MiRP1
potassium voltage-gated channel subfamily E regulatory subunit 2
HOKPP
MiRP2
potassium voltage-gated channel subfamily E regulatory subunit 3
HERG
Kv11.1
erg1
potassium voltage-gated channel subfamily H member 2
ATP-sensitive inward rectifier potassium channel 1
Kir1.1
ROMK1
potassium voltage-gated channel subfamily J member 1
ATP-sensitive inward rectifier potassium channel 11
BIR
Kir6.2
potassium voltage-gated channel subfamily J member 11
IRK1
Kir2.1
LQT7
potassium voltage-gated channel subfamily J member 2
BK channel alpha subunit
KCa1.1
big potassium channel alpha subunit
mSLO1
maxiK channel
potassium calcium-activated channel subfamily M alpha 1
Banki syndrome is a synostosis syndrome, reported in a single Hungarian family in which members of 3 generations showed lunotriquetral synostosis, clinodactyly, clinometacarpy, brachymetacarpy and leptometacarpy (thin diaphysis). It appeared to be a unique dominant mutation. There have been no further descriptions in the literature since 1965.
Banki syndrome
JLNS1
Jervell and Lange-Nielsen syndrome 1
KCNA8
KVLQT1
Kv7.1
LQT1
potassium voltage-gated channel subfamily Q member 1
ENB1
HNSPC
KCNA11
Kv7.2
potassium voltage-gated channel subfamily Q member 2
Kv7.3
potassium voltage-gated channel subfamily Q member 3
Kv7.4
potassium voltage-gated channel subfamily Q member 4
SLRR2B
keratocan proteoglycan
keratocan
fructokinase
ketohexokinase
strumpellin
WASH complex subunit 5
KBP
TTC20
kinesin binding protein
KIF1 binding protein
KIDLIA
MRX98
XLMR-related protein, neurite extension
XPN
neurite extension and migration factor
HMSNII
KIAA0591
KLP
kinesin family member 1B
kinesin family member 21A
MY050
NKHC
kinesin family member 5A
AXOR12
HOT7T175
KISS1 receptor
C-Kit
CD117
SCFR
KIT proto-oncogene receptor tyrosine kinase
MODY7
Tieg3
Kruppel like factor 11
Fletcher factor
kallikrein B1
alpha-2-thiol proteinase inhibitor
bradykinin
kininogen 1
KRAS1
KRAS proto-oncogene, GTPase
CAM
KRIT1, ankyrin repeat containing
KRT1A
keratin 1
CK10
K10
cytokeratin 10
epidermolytic hyperkeratosis
keratin 10
K12
Meesmann corneal dystrophy
keratin 12
epidermolysis bullosa simplex, Dowling-Meara, Koebner
keratin 14
BLC-PMG
Baraitser-Brett-Piesowicz syndrome
Baraitser-Reardon syndrome
Bilateral band-like calcification with polymicrogyria
Microcephaly-intracranial calcification-intellectual disability syndrome
Pseudo-TORCH syndrome
Congenital intrauterine infection-like syndrome is characterised by the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (so-called TORCH syndrome), or other agents, despite repeated tests revealing the absence of any known infectious agent.
Congenital intrauterine infection-like syndrome
NEPPK
focal non-epidermolytic palmoplantar keratoderma
keratin 16
keratin 17
KRTE
epidermal ichthyosis bullosa of Siemens
keratin 2
CK3
cytokeratin 3
keratin, type II cytoskeletal 3
keratin 3
KRT5A
keratin 5
CK6C
CK6D
K6C
K6D
keratin 6A
keratin 6B
Hb-1
hard keratin type II 1
keratin 81
Hb-3
hard keratin type II
keratin 83
Hb-5
keratin 85
Hb6
MNX
hard keratin type II 6
keratin 86
CK-9
EPPK
cytokeratin 9
epidermolytic palmoplantar keratoderma
type I cytoskeletal 9
keratin 9
CD171
neural cell adhesion molecule L1
L1 cell adhesion molecule
2-hydroxyglutarate dehydrogenase
L-2-hydroxyglutarate dehydrogenase
congenital muscular dystrophy
merosin
laminin subunit alpha 2
epiligrin
kalinin-165kDa
nicein-150kDa
laminin subunit alpha 3
NPHS5
laminin S
laminin subunit beta 2
kalinin-140kDa
nicein-125kDa
laminin subunit beta 3
kalinin-105kDa
nicein-100kDa
laminin subunit gamma 2
CD107b
lysosomal associated membrane protein 2
KIAA0609
like-acetylglucosaminyltransferase
LARGE xylosyl- and glucuronyltransferase 1
Deafness-pili torti-hypogonadism syndrome
Björnstad syndrome is characterized by congenital sensorineural hearing loss and pili torti.
Björnstad syndrome
DHCR14B
TDRD18
tudor domain containing 18
lamin B receptor
phosphatidylcholine--sterol O-acyltransferase
lecithin-cholesterol acyltransferase
lactase
KIAA0613
PDLIM6
Z-band alternatively spliced PDZ motif protein
ZASP
cypher
oracle
LIM domain binding 3
lactate dehydrogenase A
lactate dehydrogenase B
LDLCQ2
familial hypercholesterolemia
low density lipoprotein receptor
ARH
ARH2
FHCB1
FHCB2
low density lipoprotein receptor adaptor protein 1
MAN1
inner nuclear membrane protein Man1
LEM domain containing 3
leptin
CD295
OBR
leptin receptor
EPITEMPIN
ETL1
IB1099
leucine rich glioma inactivated 1
CGB4
LSH-B
hLHB
interstitial cell stimulating hormone, beta chain
luteinizing hormone beta subunit
lutropin, beta chain
luteinizing hormone beta polypeptide
LCGR
LGR2
LHR
luteinizing hormone/choriogonadotropin receptor
LIM homeobox 3
CD118
LIF receptor alpha
DNA joinase
DNA repair enzyme
polydeoxyribonucleotide synthase [ATP] 4
polynucleotide ligase
sealase
DNA ligase 4
LIMK
LIM domain kinase 1
CESD
LAL
Wolman disease
lysosomal acid lipase
sterol esterase
lipase A, lysosomal acid type
PIG7
SIMPLE
TP53I7
lipopolysaccharide induced TNF factor
ERGIC-53
ERGIC53
FMFD1
MCFD1
MR60
endoplasmic reticulum-golgi intermediate compartment protein 53
gp58
lectin, mannose binding 1
ACHP
ZRS
limb development membrane protein 1
mandibuloacral dysplasia type A
lamin A/C
lamin B1
Hypertrichosis-atrophic skin-ectropion-macrostomia syndrome
Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia.
Barber-Say syndrome
LIM homeobox transcription factor 1 beta
loricrin
KIAA0249
lipin 2
lipoprotein lipase
BMND1
EVR4
HBM
LR3
OPS
OPTA1
VBCH2
LDL receptor related protein 5
GP130
LRP130
leucine rich pentatricopeptide repeat containing
KIAA1437
SWELL1
leucine rich repeat containing 8 VRAC subunit A
beta-mannosidase A
mannosidase beta
monoamine oxidase A
MAPKK1
MEK1
mitogen-activated protein kinase kinase 1
MEK2
mitogen-activated protein kinase kinase 2
FTDP-17
G protein beta1/gamma2 subunit-interacting factor 1
MSTD
MTBT1
MTBT2
PPND
PPP1R103
microtubule-associated protein tau, isoform 4
protein phosphatase 1, regulatory subunit 103
tau
microtubule associated protein tau
Gwl
THC2
greatwall kinase homolog
microtubule associated serine/threonine kinase like
EDM5
HOA
matrilin 3
ACTHR
adrenocorticotropic hormone receptor
melanocortin 2 receptor
MCCA
methylcrotonoyl-CoA carboxylase alpha
methylcrotonoyl-CoA carboxylase 1
MCCB
methylcrotonoyl-CoA carboxylase beta
methylcrotonoyl-CoA carboxylase 2
F5F8D
LMAN1IP
SDNSF
multiple coagulation factor deficiency 2
ML4
MLIV
MST080
MSTP080
TRPM-L1
TRPML1
mucolipin 1
BRCT-repeat inhibitor of TERT expression 1
BRIT1
microcephalin 1
methyl-CpG binding protein 2
FMF
TRIM20
marenostrin
MEFV, pyrin innate immunity regulator
menin
menin 1
RP38
Tyro12
c-Eyk
mer
MER proto-oncogene, tyrosine kinase
DFNB97
HGFR
RCCP2
hepatocyte growth factor receptor
MET proto-oncogene, receptor tyrosine kinase
CMT2A2
CPRP1
KIAA0214
MARF
mitofusin 2
C1QTNF5
C1q and TNF related 5
NNO2
membrane-type frizzled-related protein
rd6
membrane frizzled-related protein
GNT-II
mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
matrix Gla protein
FXY
Opitz/BBB syndrome
RNF59
TRIM18
midline 1
GIF
glycosylation-inhibiting factor
phenylpyruvate tautomerase
macrophage migration inhibitory factor
AQP0
LIM1
MP26
aquaporin 0
major intrinsic protein of lens fiber
bHLHe32
homolog of mouse microphthalmia
melanogenesis associated transcription factor
McKusick-Kaufman syndrome
BBS13
POC12
POC12 centriolar protein homolog (Chlamydomonas)
Meckel syndrome, type 1
KIAA0027
LVM
MLC
megalencephalic leukoencephalopathy with subcortical cysts 1
FCC2
HNPCC
HNPCC2
mutL homolog 1
mutL homolog 3
ALL-1
CXXC7
HRX
HTRX1
Histone-lysine N-methyltransferase 2A
MLL1A
TRX1
lysine methyltransferase 2A
Slac-2a
exophilin-3
l(1)-3Rk
l1Rk3
melanophilin
MCD
hMCD
malonyl-CoA decarboxylase
cblA
methylmalonic aciduria (cobalamin deficiency) cblA type
ATP:cob(I)alamin adenosyltransferase
CFAP23
cblB
cilia and flagella associated protein 23
methylmalonic aciduria (cobalamin deficiency) cblB type
RIPK7
ROCO2
leucine rich repeat kinase 2
CHS
lysosomal trafficking regulator
renal amyloidosis
lysozyme
nM15
MAGE family member L2
LAMAN
mannosidase alpha class 2B member 1
NPD002
acyl-CoA dehydrogenase family member 9
acyl-CoA dehydrogenase family member 8
ASM1
long intergenic non-protein coding RNA 8
non-protein coding RNA 8
H19, imprinted maternally expressed transcript
Wnt family member 10A
homeobox A11
DOR1
component of oligomeric golgi complex 8
crystallin beta B1
notch 1
homeobox A1
D6S114E
PSF1
RING4
transporter 1, ATP binding cassette subfamily B member
TAPA
tapasin
TAP binding protein
RAB23, member RAS oncogene family
DK1
KIAA1094
dolichol kinase 1
dolichol kinase
CISS
CISS1
CLF
CLF-1
cold-induced sweating syndrome
cytokine receptor like factor 1
LKRSDH
LORSDH
aminoadipate-semialdehyde synthase
DP2
DP2.5
PPP1R46
protein phosphatase 1, regulatory subunit 46
APC, WNT signaling pathway regulator
Autosomal recessive popliteal pterygium syndrome
Lethal popliteal pterygium syndrome
Bartsocas-Papas syndrome is a rare, inherited, popliteal pterygium syndrome (see this term) characterized by severe popliteal webbing, microcephaly, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, oligosyndactyly, genital abnormalities, and additional ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported.
Bartsocas-Papas syndrome
RECQ2
RECQL3
Bloom syndrome RecQ like helicase
HLA-H
high Fe
homeostatic iron regulator
HFE2A
HJV
RGMC
haemojuvelin
hemojuvelin
repulsive guidance molecule c
hemojuvelin BMP co-receptor
ACTH
LPH
MSH
NPP
POC
adrenocorticotropic hormone
adrenocorticotropin
alpha-melanocyte stimulating hormone
beta-endorphin
beta-lipotropin
beta-melanocyte stimulating hormone
opiomelanocortin prepropeptide
proopiomelanocortin
ATR1
CSNU1
D2H
NBAT
RBAT
solute carrier family 3 member 1
DAND6
VBCH
sclerostin
cblC
methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
CLG3
collagenase 3
matrix metallopeptidase 13
TBE-1
matrix metallopeptidase 2
HMCS
MOS
molybdenum cofactor sulfurase
MOCOD
molybdenum cofactor synthesis 1
MOCO1
molybdenum cofactor synthesis 2
CDGIf
Lec35
PQLC5
SL15
mannose-P-dolichol utilization defect 1
mannose phosphate isomerase
CD110
TPOR
MPL proto-oncogene, thrombopoietin receptor
myeloperoxidase
SYM1
glomerulosclerosis
MPV17, mitochondrial inner membrane protein
CMT2I
CMT2J
HMSNIB
myelin protein zero
B27
FALP
melanocortin 2 receptor accessory protein
AT-like disease
ATLD
MRE11 homolog, double strand break repair nuclease
HNPCC1
mutS homolog 2
mutS homolog 6
HYD1
OFC5
msh homeobox 1
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_1658 with label: Absence of fingerprints-congenital milia syndrome
Ectodermal dysplasia-absent dermatoglyphs syndrome
CRS2
HOX8
craniosynostosis, type 2
msh homeobox 2
ATP6
ATPase-6
Su6m
mitochondrially encoded ATP synthase membrane subunit a
mitochondrially encoded ATP synthase membrane subunit 6
COI
COX1
mitochondrially encoded cytochrome c oxidase I
CO2
COX2
mitochondrially encoded cytochrome c oxidase II
CO3
COIII
COX3
mitochondrially encoded cytochrome c oxidase III
COB
CYTB
UQCR3
mitochondrially encoded cytochrome b
methylenetetrahydrofolate reductase
myotubularin 1
KIAA1073
phosphatidylinositol-3-phosphatase
phosphoinositide-3-phosphatase
myotubularin related protein 2
NAD1
NADH-ubiquinone oxidoreductase chain 1
ND1
complex I ND1 subunit
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1
NAD2
NADH-ubiquinone oxidoreductase chain 2
ND2
complex I ND2 subunit
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2
NAD3
NADH-ubiquinone oxidoreductase chain 3
ND3
complex I ND3 subunit
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3
NAD4
NADH-ubiquinone oxidoreductase chain 4
ND4
complex I ND4 subunit
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4
NAD4L
NADH-ubiquinone oxidoreductase chain 4L
ND4L
complex I ND4L subunit
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L
NAD5
NADH-ubiquinone oxidoreductase chain 5
ND5
complex I ND5 subunit
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5
NAD6
NADH-ubiquinone oxidoreductase chain 6
ND6
complex I ND6 subunit
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6
cblG
5-methyltetrahydrofolate-homocysteine methyltransferase
cblE
5-methyltetrahydrofolate-homocysteine methyltransferase reductase
ABL
microsomal triglyceride transfer protein
methylmalonyl-CoA mutase
MYH
mutY DNA glycosylase
LH receptor mRNA-binding protein
LRBP
mevalonic aciduria
mevalonate kinase
FHC
MYBP-C
myosin binding protein C, cardiac
Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome is an extremely rare, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism, including microbrachycephaly, sloping forehead, micro/anophthalmia, large ears, prominent nasal root, mild micrognathia, and cleft palate, associated with cerebral palsy with choreoathetoid movements, intellectual disability, dextrocardia and longitudinal folding of plantae pedis. There have been no further descriptions in the literature since 1992.
Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome
MYCNOT
N-myc
bHLHe37
MYCN proto-oncogene, bHLH transcription factor
MRF4
bHLHc4
herculin
muscle-specific regulatory factor 4
myogenic factor 6
SMHC
SMMHC
myosin heavy chain 11
KIAA2034
MHC16
MYH17
myosin heavy chain 14
MYH2A
MYHSA2
MYHas8
MyHC-2A
MyHC-IIa
myosin heavy chain 2
HEMHC
MYHC-EMB
MYHSE1
SMHCE
muscle embryonic myosin heavy chain 3
myosin, skeletal, heavy chain, embryonic 1
myosin heavy chain 3
cardiomyopathy, hypertrophic 1
myosin heavy chain 6
CMD1S
myosin heavy chain 7
MyHC-peri
MyHC-pn
myosin heavy chain 8
EPSTS
FTNS
MHA
NMHC-II-A
NMMHCA
nonmuscle myosin heavy chain II-A
myosin heavy chain 9
CMH10
cardiac ventricular myosin light chain 2
myosin light chain 2
myosin XVA
GS1
MYO5
MYR12
myosin V
myosin heavy chain 12
myosin, heavy polypeptide kinase
myoxin
myosin VA
KIAA0389
myosin VI
NSRD2
myosin VIIA
JOAG1
TIGR
juvenile-onset open-angle glaucoma 1
trabecular meshwork inducible glucocorticoid response protein
myocilin
myotilin
alpha-N-acetylgalactosaminidase
NAG
Sanfilippo disease IIIB
N-acetyl-alpha-glucosaminidase
AGAS
ARGA
NAT7
N-acetylglutamate synthase
NLR family, BIR domain containing 1
NLRB1
nucleotide-binding oligomerization domain, leucine rich repeat and BIR domain containing 1
NLR family apoptosis inhibitory protein
AT-V1
AT-V2
ATV
nibrin
NADPH oxidase organizer 2
NCF1A
NOXO2
SH3PXD1A
chronic granulomatous disease, autosomal 1
p47phox
neutrophil cytosolic factor 1
Lethal hydrocephalus-cardiac malformation-dense bones syndrome
Beemer-Ertbruggen syndrome is a lethal malformation syndrome reported in 2 brothers of first-cousin parents that is characterized by hydrocephalus, cardiac malformation, dense bones, and unusual facies with down-slanting palpebral fissures, bulbous nose, broad nasal bridge, micrognathia and a long upper lip. There have been no further descriptions in the literature since 1984.
Beemer-Ertbruggen syndrome
NADPH oxidase activator 2
NOXA2
chronic granulomatous disease, autosomal 2
p67phox
neutrophil cytosolic factor 2
PWCR
Prader-Willi syndrome chromosome region
necdin, MAGE family member
norrin
NDP, norrin cystine knot growth factor
DRG1
NDR1
RTP
TDD5
N-myc downstream regulated 1
B17.2L
MMTN
Myc-induced mitochondrial protein
mimitin
NADH:ubiquinone oxidoreductase complex assembly factor 2
CI-75k
NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial
complex I 75kDa subunit
NADH:ubiquinone oxidoreductase core subunit S1
CI-49
NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial
complex I 49kDa subunit
NADH:ubiquinone oxidoreductase core subunit S2
CI-30
NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial
complex I 30kDa subunit
NADH:ubiquinone oxidoreductase core subunit S3
AQDQ
CI-18
complex I 18kDa subunit
NADH:ubiquinone oxidoreductase subunit S4
CI-13kA
NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial
complex I 13kDa subunit A
NADH:ubiquinone oxidoreductase subunit S6
CI-20
NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial
PSST
complex I 20kDa subunit
NADH:ubiquinone oxidoreductase core subunit S7
CI-23k
NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrial
TYKY
complex I 23kDa subunit
NADH:ubiquinone oxidoreductase core subunit S8
CI-51K
NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial
complex I 51kDa subunit
NADH:ubiquinone oxidoreductase core subunit V1
CI-24k
NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial
complex I 24kDa subunit
NADH:ubiquinone oxidoreductase core subunit V2
NEB177D
nemaline myopathy type 2
nebulin
neurofilament heavy
CMT2E
NF68
NFL
PPP1R110
protein phosphatase 1, regulatory subunit 110
neurofilament light
NMDA receptor synaptonuclear signaling and neuronal migration factor
neuraminidase 1
BETA2
BHF-1
MODY6
NeuroD
bHLHa3
beta-cell E-box transactivator 2
neurogenic helix-loop-helix protein NEUROD
neuronal differentiation 1
Atoh5
Math4B
bHLHa7
ngn3
neurogenin 3
Watson disease
neurofibromatosis
von Recklinghausen disease
neurofibromin 1
ACN
BANF
Merlin
SCH
moesin-ezrin-radixin like
schwannomin
neurofibromin 2
nerve growth factor
EPM2B
epilepsy, progressive myoclonus type 2B
malin
NHL repeat containing E3 ubiquitin protein ligase 1
NHS actin remodeling regulator
SLC57A1
NIPA magnesium transporter 1
IDN3
Scc2
sister chromatid cohesion 2 homolog (yeast)
NIPBL, cohesin loading factor
CSX1
NKX2.5
NKX4-1
tinman paralog (Drosophila)
NK2 homeobox 5
AGTAVPRL
AII
AVP
CLR1.1
Cryopyrin
FCAS
FCU
MWS
NALP3
PYPAF1
nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3
NLR family pyrin domain containing 3
CLR19.4
NOD12
PAN7
PYPAF3
nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7
NLR family pyrin domain containing 7
BLAU
CLR16.3
NLR family, CARD domain containing 2
NLRC2
NOD-like receptor C2
PSORAS1
nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2
nucleotide binding oligomerization domain containing 2
noggin
notch 2
CASIL
notch 3
PUNP
purine nucleoside phosphorylase
SLC65A1
NPC intracellular cholesterol transporter 1
EDDM1
HE1
NP-C2
epididymal protein 1
NPC intracellular cholesterol transporter 2
JBTS4
SLSN1
nephrocystin 1
CFAP31
KIAA2000
MKS7
Meckel syndrome, type 7
NPH3
SLSN3
cilia and flagella associated protein 31
nephrocystin 3
KIAA0673
POC10
POC10 centriolar protein homolog (Chlamydomonas)
SLSN4
nephroretinin
nephrocystin 4
CNF
NPHN
NPHS1, nephrin
PDCN
SRN1
NPHS2, podocin
ANPb
GUCY2B
guanylate cyclase 2B
natriuretic peptide receptor 2
use http://www.orpha.net/ORDO/Orphanet_441434 with label: Syndromic hereditary optic neuropathy
AHCH
DAX1
nuclear receptor subfamily 0 group B member 1
PNR
RP37
rd7
nuclear receptor subfamily 2 group E member 3
glucocorticoid receptor
nuclear receptor subfamily 3 group C member 1
nuclear receptor subfamily 3 group C member 2
D14S46E
NRL-MAF
RP27
neural retina leucine zipper
NTN
prepro-neurturin
neurturin
ARA267
KMT3B
nuclear receptor binding SET domain protein 1
H105e3
SDR31E1
XAP104
short chain dehydrogenase/reductase family 31E, member 1
NAD(P) dependent steroid dehydrogenase-like
P5'N-1
PN-I
POMP
PSN1
UMPH
UMPH1
cN-III
hUMP1
lupin
p36
5'-nucleotidase, cytosolic IIIA
MTC
TRKA
high affinity nerve growth factor receptor
neurotrophic receptor tyrosine kinase 1
CLRP
CSNB1A
nyctalopin
HOGA
Ornithine aminotransferase
gyrate atrophy
ornithine aminotransferase precursor
ornithine aminotransferase
BEY
BEY1
BEY2
EYCL
P-protein
melanocyte-specific transporter protein
OCA2 melanosomal transmembrane protein
OCRL1
OCRL, inositol polyphosphate-5-phosphatase
JBTS10
OFD1, centriole and centriolar satellite protein
Dynamin-like 120 kDa protein, mitochondrial
KIAA0567
MGM1
NPG
NTG
dynamin-like guanosine triphosphatase
mitochondrial dynamin-like GTPase
OPA1, mitochondrial dynamin like GTPase
Aase syndrome
Aase-Smith II syndrome
Congenital PRCA
Congenital hypoplastic anemia, Blackfan-Diamond type
Congenital pure red cell aplasia
Blackfan-Diamond anemia (DBA) is a congenital aregenerative and often macrocytic anemia with erythroblastopenia.
Blackfan-Diamond anemia
Bellini syndrome
Intellectual disability-short stature-wedge-shaped epiphyses of knees syndrome
Metaphyseal acroscyphodysplasia is an extremely rare form of metaphyseal dysplasia characterized by the distinctive radiological sign of cone-shaped upper tibial and lower femoral epiphyses embedded in large cup-shaped metaphyses, associated with short stature and micromelia. Upper limb involvement includes brachydactyly and phalangeal and metacarpal cone-shaped epiphyses. The association of metaphyseal acroscyphodysplasia with psychomotor delay and alopecia has also been reported in some cases.
Metaphyseal acroscyphodysplasia
MGA3
OPA3, outer mitochondrial membrane lipid metabolism regulator
COD5
cone dystrophy 5 (X-linked)
opsin 1, long wave sensitive
OPN1MW1
opsin 1, medium wave sensitive
BOP
Blue-sensitive opsin
CBT
Color blindness, tritan
opsin 1, short wave sensitive
FIP-2
FIP2
HIP7
HYPL
NRP
TFIIIA-INTP
optineurin
CLCN7 accessory beta subunit
HSPC019
osteopetrosis associated transmembrane protein 1
ornithine carbamoyltransferase
DFNB6
FER1L2
fer-1-like family member 2
otoferlin
orthodenticle homeobox 2
SCOT
3-oxoacid CoA-transferase 1
HORK3
P2Y12
SP1999
purinergic receptor P2Y12
PAB2
poly(A) binding protein nuclear 1
LIS1
NudF
PAFAH
lissencephaly-1
platelet activating factor acetylhydrolase 1b regulatory subunit 1
phenylalanine 4-monooxygenase
phenylalanine hydroxylase
Hallervorden-Spatz syndrome
PKAN
pantothenate kinase 2
ATPSK2
adenosine 5'-phosphosulfate kinase
adenylyl-sulfate kinase
bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 2
sulfate adenylyltransferase
3'-phosphoadenosine 5'-phosphosulfate synthase 2
AR-JP
E3 ubiquitin ligase
PARK2
PDJ
parkin
parkin RBR E3 ubiquitin protein ligase
DJ-1
DJ1
GATD2
Parkinsonism associated deglycase
paired box 2
HUP2
paired box 3
aniridia, keratitis
paired box 6
Hemifacial hyperplasia-strabismus syndrome
Bencze syndrome or hemifacial hyperplasia with strabismus is a malformation syndrome involving the abnormal growth of the facial skeleton as well as its soft tissue structure and organs, and is characterized by mild facial asymmetry with unaffected neurocranium and eyeballs, as well as by esotropia, amblyopia and/or convergent strabismus, and occasionally submucous cleft palate. Transmission is autosomal dominant. There have been no further descriptions in the literature since 1979.
Bencze syndrome
Hup1
paired box 7
paired box 8
paired box 9
PCB
pyruvate carboxylase
Pterin-4a-carbinolamine dehydratase (dimerization cofactor of hepatic nuclear factor 1-alpha)
dimerizing cofactor for HNF1
pterin-4-alpha carbinolamine dehydratase
pterin-4 alpha-carbinolamine dehydratase 1
propionyl-CoA carboxylase subunit alpha
propionyl-CoA carboxylase subunit beta
CDHR15
cadherin-related family member 15
protocadherin related 15
PEPCK-C
phosphoenolpyruvate carboxykinase 1
PEPCK
PEPCK2
phosphoenolpyruvate carboxykinase 2, mitochondrial
PTC4
pericentriolar material 1
PC1
PC3
SPC3
neuroendocrine convertase 1
prohormone convertase 1
prohormone convertase 3
proprotein convertase 1
proprotein convertase subtilisin/kexin type 1
FH3
NARC-1
proprotein convertase subtilisin/kexin type 9
TFAR15
programmed cell death 10
RP43
phosphodiesterase 6A
CSNB3
CSNBAD2
RP40
congenital stationary night blindness 3, autosomal dominant
rd1
phosphodiesterase 6B
CD140a
GAS9
PDGFR2
platelet derived growth factor receptor alpha
pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial
pyruvate dehydrogenase E1 alpha 1 subunit
PDHE1B
pyruvate dehydrogenase E1 beta subunit
DLDBP
E3BP
OPDX
PDX1
proX
pyruvate dehydrogenase complex component X
IDX-1
MODY4
PDX-1
STF-1
somatostatin transcription factor 1
pancreatic and duodenal homeobox 1
prolidase
peptidase D
peroxisomal biogenesis factor 1
RNF69
peroxisomal biogenesis factor 10
peroxisomal biogenesis factor 12
peroxisomal biogenesis factor 13
peroxisomal biogenesis factor 14
peroxisomal biogenesis factor 16
HK33
PMP1
PMPI
PXMP1
housekeeping gene, 33kD
peroxisomal biogenesis factor 19
peroxisomal biogenesis factor 26
peroxisomal biogenesis factor 3
PTS1R
peroxisomal import receptor 5
peroxisomal targeting signal 1 receptor
peroxisomal biogenesis factor 5
PAF-2
PXAAA1
peroxisomal biogenesis factor 6
PTS2R
peroxisomal biogenesis factor 7
PFK-1
PPP1R122
protein phosphatase 1, regulatory subunit 122
phosphofructokinase, muscle
phosphoglycerate kinase 1
phosphoglucomutase 1
HPDR1
HYP1
PEX
XLH
phosphate regulating endopeptidase homolog X-linked
BVMD
Best macular dystrophy
Early-onset vitelliform macular dystrophy
Juvenile-onset vitelliform macular dystrophy
Polymorphic vitelline macular degeneration
Vitelliform macular dystrophy type 2
Best vitelliform macular dystrophy (BVMD) is a genetic macular dystrophy characterized by loss of central visual acuity, metamorphopsia and a decrease in the Arden ratio secondary to an egg yolk-like lesion located in the foveal or parafoveal region.
Best vitelliform macular dystrophy
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_33364 with label: Trichothiodystrophy
Biemond syndrome
Brachydactyly-nystagmus-cerebellar ataxia syndrome is characterized by brachydactyly, nystagmus and cerebellar ataxia. Intellectual deficit and strabismus are also reported in some patients.
Brachydactyly-nystagmus-cerebellar ataxia syndrome
Bilharziasis
that colonize human blood vessels and release eggs that can cause granulomatous reactions leading to acute (swimmer's itch or acute schistosomiasis syndrome) or chronic disease. Depending on where the eggs lodge, manifestations of chronic schistosomiasis can include diarrhea, abdominal pain, loss of appetite, anemia (intestines), hepatosplenism, periportal fibrosis with portal hypertension (liver), urogenital inflammation and scarring, hematuria and dysuria (genitourinary system). Other patients may be asymptomatic.
Schistosomiasis
Binder syndrome
Maxillonasal dysostosis
Binder syndrome is a rare developmental anomaly, affecting primarily the anterior part of the maxilla and nasal complex.
Maxillonasal dysplasia
use http://www.orpha.net/ORDO/Orphanet_98549 with label: Rare cerebrovascular dementia
BSyn
Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer.
Bloom syndrome
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_2353 with label: Schilbach-Rott syndrome
Pashayan syndrome
Pashayan-Prozansky syndrome
Blepharonasofacial syndrome is a rare otorhinolaryngological malformation syndrome characterized by a distinctive mask-like facial dysmorphism, lacrimal duct obstruction, extrapyramidal features, digital malformations and intellectual disability.
Blepharonasofacial malformation syndrome
Blepharochalasis-double lip syndrome
Ascher syndrome is a very rare syndrome characterized by a combination of blepharochalasis, double lip, and non-toxic thyroid enlargement (seen in 10-50% of cases), although the occurrence of all three signs at presentation is uncommon. Hypertrophy of the mucosal zone of the lip with persistence of the horizontal sulcus between cutaneous and mucosal zones gives an appearance of double lip, with the upper lip being frequently involved. Blepharochalasis, or episodic edema of eyelid, appears around puberty, is present in 80% of cases, is usually bilateral, and can rarely lead to vision impairment and other ocular complications. Most cases are sporadic, but familial cases (with a possible autosomal dominant inheritance) have also been reported.
Ascher syndrome
use http://www.orpha.net/ORDO/Orphanet_93459 with label: Syndrome with synostosis or other joint formation defect
OBSOLETE: Blepharophimosis-radioulnar synostosis syndrome
OBSOLETE: Blepharoptosis-cleft palate-ectrodactyly-dental anomalies syndrome
This syndrome is characterised by bilateral congenital blepharoptosis, ectopia lentis and high myopia.
Blepharoptosis-myopia-ectopia lentis syndrome
Blepharophimosis types 1 and 2
Blepharophimosis, Ptosis, and Epicanthus Inversus syndrome (BPES) is an ophthalmic disorder characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with (type I) or without premature ovarian failure (POF; see this term) (type II).
Blepharophimosis-epicanthus inversus-ptosis syndrome
Sino-auricular heart block
Encephalopathy-intracerebral calcification-retinal degeneration syndrome
Bonnemann-Meinecke-Reich syndrome is a syndrome of multiple congenital anomalies characterized by an encephalopathy which predominantly occurs in the first year of life and presenting as psychomotor delay. Additional features of the disease include moderate dysmorphia, craniosynostosis, dwarfism (due to growth hormone deficiency), intellectual disability, spasticity, ataxia, retinal degeneration, and adrenal and uterine hypoplasia. The disease has been described in only two families, with each family having two affected siblings. An autosomal recessive inheritance has been suggested. There have been no further descriptions in the literature since 1991.
Bonnemann-Meinecke-Reich syndrome
Book syndrome is a rare autosomal dominant ectodermal dysplasia syndrome reported in a Swedish family (25 cases from 4 generations), and one isolated case, and is characterized by premolar aplasia, hyperhidrosis, and premature graying of the hair. Additional features reported in the isolated case include a narrow palate, hypoplastic nails, eyebrow anomalies, a unilateral simian crease, and poorly formed dermatoglyphics.
Böök syndrome
Boomerang dysplasia (BD) is a rare lethal skeletal dysplasia characterized by severe short-limbed dwarfism, dislocated joints, club feet, distinctive facies and diagnostic x-ray findings of underossified and dysplastic long tubular bones, with a boomerang-like bowing.
Boomerang dysplasia
Bork syndrome
Uncombable hair-retinal pigmentary dystrophy-dental anomalies-brachydactyly syndrome
Tricho-retino-dento-digital syndrome is an autosomal dominant ectodermal dysplasia syndrome, characterized by uncombable hair syndrome (see this term), congenital hypotrichosis and dental abnormalities such as oligodontia (see this term) or hyperdontia, and associated with early-onset cataract, retinal pigmentary dystrophy, and brachydactyly with brachymetacarpia. Furthermore, hyperactivity and a mild intellectual deficit have been reported in affected patients.
Tricho-retino-dento-digital syndrome
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_137834 with label: Frank-Ter Haar syndrome
Dermato-cardio-skeletal syndrome, Borrone type
Botulism is a rare acquired neuromuscular junction disease, characterized by descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), including four clinical forms with different modes of acquisition.
Botulism
BFLS
Intellectual disability-epilepsy-endocrine disorders syndrome
Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked obesity syndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes.
Borjeson-Forssman-Lehmann syndrome
Bowen syndrome, Hutterite type
Bowen-Conradi syndrome (BCS) is a lethal autosomal recessive ribosomal biogenesis disorder characterized by severe prenatal and postnatal growth retardation, macrocephaly, a distinctive facial appearance, extreme psychomotor delay, hip and knee contractures and rockerbottom feet.
Bowen-Conradi syndrome
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_912 with label: Zellweger syndrome
Brachycephaly-deafness-cataract-intellectual disability syndrome
Fine-Lubinsky syndrome
Fine-Lubinsky syndrome is characterised by psychomotor delay, brachycephaly with flat face, small nose, microstomia, cleft palate, cataract, hearing loss, hypoplastic scrotum and digital anomalies.
Aymé-Gripp syndrome
Brachydactyly-joint dysplasia syndrome
Liebenberg syndrome
Brachydactyly-elbow wrist dysplasia syndrome is a rare, genetic bone development disorder characterized by dysplasia of all the bony components of the elbow joint, abnormally shaped carpal bones, wrist joint radial deviation and brachydactyly. Patients typically present with slight flexion at the elbow joints (with impossibilty to perform active extension) and usually associate a limited range of motion of the elbow, wrist and finger articulations. Camptodactyly and syndactyly have also been reported.
Brachydactyly-elbow wrist dysplasia syndrome
Bilginturan brachydactyly
Bilginturan syndrome
Brachydactyly type E, with short stature and hypertension
Brachydactyly - arterial hypertension is a rare genetic brachydactyly syndrome characterized by the association of brachydactyly type E (see this term) with hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood and, if untreated, most patients will have had a stroke by the age of 50.
Brachydactyly-arterial hypertension syndrome
Stratton-Garcia-Young syndrome
Brachydactyly-mesomelia-intellectual disability-heart defects syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, thin habitus with narrow shoulders, mesomelic shortness of the arms, craniofacial dysmorphism (e.g. long lower face, maxillary hypoplasia, beak nose, short columella, prognathia, high arched palate, obtuse mandibular angle), brachydactyly (mostly involving middle phalanges) and cardiovascular anomalies (i.e. aortic root dilatation, mitral valve prolapse).
Brachydactyly-mesomelia-intellectual disability-heart defects syndrome
Preaxial brachydactyly-hallux varus syndrome is characterized the association of hallux varus with short thumbs and first toes (involving the metacarpals, metatarsals, and distal phalanges; the proximal and middle phalanges are of normal length) and abduction of the affected digits.
Brachydactyly-preaxial hallux varus syndrome
Bothriocephalosis
Bothriocephalosis is a mammalian cosmopolitan intestinal parasitosis. In addition to non-specific digestive problems (nausea, abdominal pain, lack of appetite), bothriocephalosis provokes an anaemia caused by vitamin B12 deficiency that resembles Biermer anaemia (anaemia characterised by abnormally large red blood cells).
Diphyllobothriasis
Pseudo-pelade of Brocq is a rare hair abnormality characterized by onset in adulthood of soft, irregular, flesh-toned patches of alopecia primarily in the parietal and vertex portions of the scalp, without follicular hyperkeratosis or perifollicular inflammation.
Pseudopelade of Brocq
BOD syndrome
Senior syndrome
Brachymorphism-onychodysplasia-dysphalangism (BOD) is a very rare malformation syndrome that is characterized by short stature, hypoplastic fifth digits with tiny dysplastic nails, facial dysmorphism with coarse features including a wide mouth and broad nose, and mild intellectual disability. It has been suggested that Coffin-Siris syndrome (see this term) and BOD syndrome are perhaps allelic variants.
Brachymorphism-onychodysplasia-dysphalangism syndrome
Brachyolmia is a rare, clinically and genetically heterogeneous group of bone disorders characterized by short trunk, mild short stature, scoliosis and generalized platyspondyly without significant abnormalities in the long bones.
Brachyolmia
Brachytelephalangy - dysmorphism - Kallmann syndrome is a developmental anomaly characterized by brachytelephalangy, distinct craniofacial features (prominent square forehead, telecanthus, small nose, malar hypoplasia, smooth philtrum and thin upper lip), and relative to other family members, a short stature. These features may be associated with anosmia and hypogonadotropic hypogonadism (considered as Kallman syndrome ; see this term). Brachytelephalangy - dysmorphism - Kallmann syndrome has been described in a mother and her son and there have been no further descriptions in the literature since 1986.
Brachytelephalangy-dysmorphism-Kallmann syndrome
Branchial dysplasia-intellectual disability-inguinal hernia syndrome
Lambert syndrome is a very rare syndrome described in four sibs of one French family and characterized by branchial dysplasia (malar hypoplasia, macrostomia, preauricular tags and meatal atresia), club feet, inguinal herniae and cholestasis due to paucity of interlobular bile ducts and intellectual deficit.
Lambert syndrome
BOFS
Branchio-oculo-facial syndrome (BOFS) is characterised by low birth weight and growth retardation, bilateral branchial clefts that may be hemangiomatous, sometimes with linear skin lesions behind the ears ('burn-like' lesions), congenital strabismus, obstructed nasolacrimal ducts, a broad nasal bridge with a flattened nasal tip, a protruding upper lip with an unusually broad and prominent philtrum, and full mouth.
Branchio-oculo-facial syndrome
BSG syndrome
Elsahy-Waters syndrome
Branchioskeletogenital syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by moderate intellectual disability, distinctive craniofacial features (including brachycephaly, facial asymmetry, marked hypertelorism, blepharochalasis, proptosis, a broad nose with concave nasal ridge and bulbous nasal tip, midface hypoplasia, bifid uvula or partial cleft palate, and prognathism), progressive dental anomalies (dentigerous cysts, radicular dentin dysplasia and early tooth loss), vertebral fusions (particularly of C2-C3), and hypospadias. Hearing loss is an additional observed feature.
Branchioskeletogenital syndrome
Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency
6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency is one of the causes of malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency. Not only does tetrahydrobiopterin deficiency cause hyperphenylalaninemia, it is also responsible for defective neurotransmission of monoamines because of malfunctioning tyrosine and tryptophan hydroxylases, both tetrahydrobiopterin-dependent hydroxylases.
6-pyruvoyl-tetrahydropterin synthase deficiency
Bangungut
Dream disease
Idiopathic ventricular fibrillation, Brugada type
Pokkuri death syndrome
SUNDS
Sudden unexplained nocturnal death syndrome
Brugada syndrome (BrS) manifests with ST segment elevation in right precordial leads (V1 to V3), incomplete or complete right bundle branch block, and susceptibility to ventricular tachyarrhythmia and sudden death. BrS is an electrical disorder without overt myocardial abnormalities.
Brugada syndrome
Facio-genito-popliteal syndrome
Popliteal web syndrome
Autosomal dominant popliteal pterygium syndrome (AD-PPS) is a rare genetic malformative disorder characterized by cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail.
Autosomal dominant popliteal pterygium syndrome
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_3471 with label: Young syndrome
Bronchiolitis obliterans organizing pneumonia
COP
Cryptogenic organizing pneumonia (COP) is a form of idiopathic interstitial pneumonia characterized pathologically by organizing pneumonia (OP) that presents with non-specific flu-like symptoms, as well as cough and dyspnea and where no etiological agent is found.
Cryptogenic organizing pneumonia
BOOP
Constrictive bronchiolitis
Obliterative bronchiolitis
Bronchiolitis obliterans syndrome (BOS) is a lung disorder that is mainly associated with chronic allograft dysfunction after lung transplantation and that is characterized by inflammation and fibrosis of bronchiolar walls that reduce the diameter of the bronchioles and result in progressive and irreversible airflow obstruction.
Bronchiolitis obliterans with obstructive pulmonary disease
transmitted through consumption of unpasteurized dairy products or through direct contact with infected animals, placentas or aborted fetuses. Brucellosis is characterized by fever, fatigue, malaise, headache, anorexia, weight loss, sweating, osteomuscular pain (joint and lumbar pain), and arthritis.
Brucellosis
Brunner-Winter syndrome
Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum
FGLDS
MMT
MODED syndrome
Microcephaly-digital anomalies-normal intelligence syndrome
Microcephaly-intellectual disability-tracheoesophageal fistula syndrome
Microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome
ODED syndrome
Oculo-digito-esophageal-duodenal syndrome
Feingold syndrome (FS), also known as oculo-digito-esophageal-duodenal (ODED) syndrome, is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies and is comprised of two subtypes: FS type 1 (FS1) and FS type 2 (FS2) (see these terms). FS1 is by far the most common form while FS2 has only been reported in 3 patients and has the same clinical characteristics as FS1, apart from the absence of gastrointestinal atresia and short palpebral fissures.
Feingold syndrome
Disseminated dermatofibrosis with osteopoikilosis
Buschke-Ollendorff syndrome (BOS) is a benign disorder characterized by the association of osteopoikilosis lesions (``spotted bones'') in the skeleton and connective tissue nevi in the skin.
Buschke-Ollendorff syndrome
10q24 microduplication syndrome
Buttiens-Fryns syndrome
The distal limb deficiencies-micrognathia syndrome is characterized by the combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate.
Distal limb deficiencies-micrognathia syndrome
OTCS
Opitz C trigonocephaly
Opitz trigonocephaly C syndrome
Opitz trigonocephaly syndrome
Trigonocephaly C syndrome
C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability.
C syndrome
Cacchi-Ricci disease
MSK
Precalicial canalicular ectasia
Medullary sponge kidney
Budd-Chiari syndrome (BCS) is caused by obstruction of hepatic venous outflow involving either the hepatic veins or the terminal segment of the inferior vena cava.
Budd-Chiari syndrome
Infantile cortical hyperostosis
Caffey disease is an osteosclerotic dysplasia characterized by acute inflammation with massive subperiosteal new bone formation usually involving the diaphyses of the long bones, as well as the ribs, mandible, scapulae, and clavicles. The disease is associated with fever, irritability pain and soft tissue swelling, with onset around the age of 2 months and resolving spontaneously by the age of 2 years. However, prenatal disease onset has also been described.
Caffey disease
This syndrome is characterized by intellectual deficit, calcification of the choroid plexus, and elevated levels of cerebrospinal fluid (CSF) protein. It has been described in two sibships from two unrelated families. The seven children of one of the sibships were born to consanguineous parents. Some patients also had strabismus, hyperactive deep tendon reflexes and foot deformities.
Infantile choroidocerebral calcification syndrome
Bilateral symmetrical thalamic gliosis
Symmetrical thalamic calcifications are clinically distinguished by a low Apgar score, spasticity or marked hypotonia, weak or absent cry, poor feeding, and facial diplegia or weakness.
Symmetrical thalamic calcifications
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_1466 with label: COFS syndrome
Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies.
Campomelia, Cumming type
Camptobrachydactyly is an extremely rare brachydactyly syndrome, characterized by short broad hands and feet with brachydactyly associated with congenital flexion contractures of the proximal and/or distal interphalangeal joints of the fingers, as well as syndactyly of feet. Polydactyly, septate vagina and urinary incontinence were also occasionally reported. Camptobrachydactyly has been described in 18 members of 1 family, suggesting an autosomal dominant inheritance. There have been no further descriptions in the literature since 1972.
Camptobrachydactyly
Butyrylcholinesterase (BChE) deficiency is a metabolic disorder characterised by prolonged apnoea after the use of certain anaesthetic drugs, including the muscle relaxants succinylcholine or mivacurium and other ester local anaesthetics. The duration of the prolonged apnoea varies significantly depending on the extent of the enzyme deficiency.
Butyrylcholinesterase deficiency
Idiopathic camptocormism
Idiopathic progressive lumbar kyphosis
Idiopathic camptocormia is a postural disease characterized by an anterior flexion of the torso (during walking or standing) that resolves in the supine position and that is caused by weakness of the lumbar paraspinal muscles (spinal extensors), due to massive fatty infiltrations of posterior spinal muscles, without an identifiable etiology.
Idiopathic camptocormia
Goodman camptodactyly
Camptodactyly - fibrous tissue hyperplasia - skeletal dysplasia syndrome is an extremely rare chondrodysplastic malformation syndrome that is characterized by the combination of arachnodactyly, becoming evident at around the age of 10, camptodactyly (hammertoes) and scoliosis. A mild facial dysmorphism including a broad nose and flaring nostrils, and a mild intellectual disability were also noted. Camptodactyly - fibrous tissue hyperplasia - skeletal dysplasia syndrome has been described once in 3 siblings and is suspected to follow autosomal recessive transmission. There have been no further descriptions in the literature since 1972.
Camptodactyly-fibrous tissue hyperplasia-skeletal dysplasia syndrome
CD332
CEK3
Crouzon syndrome
ECT1
K-SAM
TK14
TK25
fibroblast growth factor receptor 2
BTF2
GTF2H
RAD25
XPB
xeroderma pigmentosum group B complementing
ERCC excision repair 3, TFIIH core complex helicase subunit
Cockayne syndrome
ERCC excision repair 5, endonuclease
AIS
HUMARA
Kennedy disease
NR3C4
SMAX1
testicular feminization
androgen receptor
Rozin-Hertz-Goodman syndrome
Rozin-camptodactyly syndrome
Camptodactyly-joint contractures-facial skeletal defects syndrome is characterised by the association of camptodactyly, multiple eye defects (fibrosis of the medial rectus muscle, severe myopia, ptosis and exophthalmos), scoliosis, flexion contractures and facial anomalies (arched eyebrows, facial asymmetry with an abnormal skull shape, a prominent nose, small mouth, low-set and dysplastic ears, and a low nuchal hairline).
Camptodactyly-joint contractures-facial skeletal defects syndrome
Familial streblodactyly with amino-aciduria
Camptodactyly-taurinuria syndrome is a congenital malformation syndrome characterized by the association of a permanent camptodactyly of the fingers (see this term) with the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
Camptodactyly-taurinuria syndrome
Camptodactyly syndrome, Guadalajara type 2 is an extremely rare multiple congenital anomaly syndrome characterized by distinctive intrauterine growth retardation, skeletal dysplasia with multiple malformations including camptodactyly of all fingers, bilateral hallux valgus, short second, fourth and fifth toes, hypoplastic patella, microcephaly, low-set ears, short neck, cuboid-shaped vertebral bodies, pectus excavatum, hip dislocation, and hypoplastic pubic region and genitalia. Camptodactyly syndrome, Guadalajara type 2 has been described in two sisters and is most likely transmitted in an autosomal recessive manner. There have been no further descriptions in the literature since 1985.
Camptodactyly syndrome, Guadalajara type 2
Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies.
Camptodactyly syndrome, Guadalajara type 1
Progressive diaphyseal dysplasia
Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability. Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability.
CAVC
Common atrioventricular canal
Complete atrioventricular septal defect
Complete atrioventricular canal (CAVC), also referred to as complete atrioventricular septal defect, is characterized by an ostium primum atrial septal defect, a common atrioventricular valve and a variable deficiency of the ventricular septum inflow.
Complete atrioventricular canal
Berylliosis
Chronic berylliosis
Chronic beryllium lung disease
Chronic beryllium disease (CBD) is a granulomatous, interstitial lung disease that occurs in individuals who develop beryllium sensitization (BeS), a cell-mediated immune response to environmental and occupational beryllium exposure. BeS precedes the lung disease that may present with chronic dry cough, fatigue, weight loss, chest pain, and increasing dyspnea.
Chronic beryllium disease
PAVC
Partial atrioventricular canal defect
Partial atrioventricular canal (PAVC) is a congenital heart malformation characterized by an atrial septal defect (ASD; ostium primum), clefts of mitral and occasionally tricuspid valves, two separate atrioventricular (AV) valve annuli and an intact ventricular septum. The typical symptoms of PAVC are impaired exercise capacity and exertional dyspnea.
Partial atrioventricular canal
Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents.
Familial prostate cancer
Medullary thyroid carcinoma (MTC) is developed from thyroid C cells that secrete calcitonin (CT).
Medullary thyroid carcinoma
Familial pancreatic cancer
Familial pancreatic carcinoma is defined by the presence of pancreatic cancer (PC) in two or more first-degree relatives.
Familial pancreatic carcinoma
CMC
Chronic mucocutaneous candidiasis
SMA1
SMA2
SMA3
SMNT
TDRD16A
gemin-1
tudor domain containing 16A
survival of motor neuron 1, telomeric
Cantrell deformity
Cantrell syndrome
Thoraco-abdominal syndrome
Pentalogy of Cantrell (POC) is a lethal multiple congenital anomalies syndrome, characterized by the presence of 5 major malformations: midline supraumbilical abdominal wall defect, lower sternal defect, diaphragmatic pericardial defect, anterior diaphragmatic defect and various intracardiac malformations. Ectopia cordis (EC) is often found in fetuses with POC.
Pentalogy of Cantrell
Hyperkeratosis-hyperpigmentation syndrome describes a very rare hyperpigmentation of the skin characterized by tiny hyperpigmented spots mainly on skin exposed to sunlight, together with mild punctate palmoplantar papular hyperkeratosis as a major feature. There have been no further descriptions in the literature since 1993.
Hyperkeratosis-hyperpigmentation syndrome
Ostravik-Lindemann-Solberg syndrome
Heart defect-tongue hamartoma-polysyndactyly syndrome
3-ketothiolase deficiency
3-oxothiolase deficiency
Alpha methylacetoacetic aciduria
Alpha-methyl-acetoacetyl-CoA thiolase deficiency
Mitochondrial acetoacetyl-coenzyme A thiolase deficiency
T2 deficiency
Beta-ketothiolase (T2) deficiency is a rare organic aciduria (see this term) affecting ketone body metabolism and the catabolism of isoleucine and characterized by intermittent ketoacidotic episodes associated with vomiting, dyspnea, tachypnoea, hypotonia, lethargy and coma, with an onset during infancy or toddlerhood and usually ceasing by adolescence.
Beta-ketothiolase deficiency
CFC syndrome
Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability.
Cardiofaciocutaneous syndrome
Atriodigital dysplasia type 3
Cardiomelic syndrome type 3
Heart-hand syndrome, Spanish type
Heart-limb syndrome type 3
Heart-hand syndrome type 3 is a very rare heart-hand syndrome (see this term), described in three members of a Spanish family to date, which is characterized by a cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands (see this term), affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle.
Heart-hand syndrome type 3
Atrial cardiomyopathy with heart block
Atrial standstill is a rare cardiac rhythm disease with a few familial and sporadic cases described to date that is characterized by a transient or permanent absence of electrical and mechanical atrial activity. Electrocardiographic findings include bradycardia, ectopic supraventricular rhythms, lack of atrial excitability and absent P waves.
Atrial standstill
Krasnow-Qazi syndrome
Cardiomyopathy - cataract - hip spine disease describes the extremely rare triad of dilated cardiomyopathy, premature cataract, and articular disease of the hips and spine characterized by hip joint degeneration, irregular intervertebral disks, and platyspondyly. The ocular abnormalities are often the first symptoms to arise. There have been no further descriptions in the literature since 1985.
Cardiomyopathy-cataract-hip spine disease syndrome
Maternally-inherited cardiomyopathy and deafness
mtDNA-related cardiomyopathy and hearing loss
tRNA-LYS-related cardiomyopathy-hearing loss syndrome
Maternally inherited cardiomyopathy and hearing loss is a mitochondrial disease described in two unrelated families to date that has a heterogeneous clinical presentation characterized by the association of progressive sensorineural hearing loss with hypertrophic cardiomyopathy and, in the majority of cases, encephalomyopathy symptoms such as ataxia, slurred speech, progressive external opthalmoparesis (PEO), muscle weakness, myalgia, and exercise intolerance.
Mitochondrial DNA-related cardiomyopathy and hearing loss
Childhood ataxia with diffuse central nervous system hypomyelination
Leukoencephalopathy with vanishing white matter
Myelinosis centralis diffusa
A new leukoencephalopathy, the CACH syndrome (Childhood Ataxia with Central nervous system Hypomyelination) or VWM (Vanishing White Matter) was identified on clinical and MRI criteria. Classically, this disease is characterized by (1) an onset between 2 and 5 years of age, with a cerebello-spastic syndrome exacerbated by episodes of fever or head trauma leading to death after 5 to 10 years of disease evolution, (2) a diffuse involvement of the white matter on cerebral MRI with a CSF-like signal intensity (cavitation), (3) a recessive autosomal mode of inheritance, (4) neuropathologic findings consistent with a cavitating orthochromatic leukodystrophy with increased number of oligodendrocytes with sometimes ``foamy'' aspect.
CACH syndrome
Atriodigital dysplasia type 2
Tabatznik syndrome
Heart-hand syndrome type 2 is an extremely rare heart-hand syndrome (see this term) described in two families to date, that is characterized by upper limb malformations (brachytelephalangy type D, hypoplastic deltoids, mild shortening of the fourth and fifth metacarpals in some individuals, skeletal anomalies in the humerus, radius, ulnae, and thenar bones) and cardiac arrhythmias (junctional rhythms and atrial fibrillation).
Heart-hand syndrome type 2
Houlston-Ironton-Temple syndrome
Atrioventricular defect-blepharophimosis-radial and anal defect syndrome is a rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
Atrioventricular defect-blepharophimosis-radial and anal defect syndrome
Heart defects limb shortening is an association disorder combining congenital heart malformation and skeletal dysplasia (including coronal clefting of the vertebral bodies and short limbs). It has been described only once in the literature, in two male sibs from Kuwaiti first-cousins. The clinical and radiological features of these patients were reported as a distinct cardioskeletal syndrome.
Heart defects-limb shortening syndrome
Sonoda syndrome
Heart defect  round face  congenital developmental delay is very rare syndrome described in three sibs of one Japanese family and characterized by congenital heart disease, round face with depressed nasal bridge, small mouth, short stature, and relatively dark skin and typical dermatoglyphic anomalies, and intellectual deficit.
Congenital heart defect-round face-developmental delay syndrome
Myopathy-Moebius-Robin syndrome
Carey-Fineman-Ziter (CFZ) syndrome is a rare condition characterized by the association of hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre-Robin sequence (micrognathia, glossoptosis, and high-arched or cleft palate), unusual face, and growth delay.
Carey-Fineman-Ziter syndrome
Carney syndrome
Myxoma-spotty pigmentation-endocrine overactivity syndrome
Carney complex (CNC) is characterized by spotty skin pigmentation, endocrine overactivity and myxomas.
Carney complex
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
Hereditary multi-infarct dementia
CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a hereditary cerebrovascular disorder characterized by mid-adult onset of recurrent subcortical ischemic stroke and cognitive impairment progressing to dementia in addition to migraines with aura and mood disturbances seen in about a third of patients.
CADASIL
Carnosinase deficiency
Carnosinemia is a very rare inherited disorder that presents with serum carnosinase deficiency.
Carnosinemia
Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia
Cataract-alopecia-sclerodactyly syndrome
PPK-CA, Wallis type
Palmoplantar keratoderma and congenital alopecia, Wallis type
Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum.
Autosomal recessive palmoplantar keratoderma and congenital alopecia
Cataract-ataxia-deafness syndrome is characterised by mild intellectual deficit, congenital cataract, progressive sensorineural deafness and ataxia. It has been described in two sisters. The inheritance is likely to be autosomal recessive.
Cataract-ataxia-deafness syndrome
Sengers syndrome
Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease (see this term) characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise.
Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome
CDG
Carbohydrate deficient glycoprotein syndrome
Congenital disorder of glycosylation (CDG) is a fast growing group of inborn errors of metabolism characterized by defective activity of enzymes that participate in glycosylation (modification of proteins and other macromolecules by adding and processing of oligosaccharide side chains). CDG is comprised of phenotypically diverse disorders affecting multiple systems including the central nervous system, muscle function, immunity, endocrine system, and coagulation. The numerous entities in this group are subdivided, based on the synthetic pathway affected, into disorder of protein N-glycosylation, disorder of protein O-glycosylation, disorder of multiple glycosylation, and disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation (see these terms).
Congenital disorder of glycosylation
Wellesley-Carman-French syndrome
Cataract-aberrant oral frenula-growth delay syndrome is characterized by cataracts and short stature associated with variable anomalies, including aberrant oral frenula, a characteristic facial appearance (posteriorly angulated ears, upslanting palpebral fissures, small nose, ptosis and epicanthal folds) cavernous hemangiomas and hernias. It has been described in a mother and her two children. It is transmitted as an autosomal dominant trait.
Cataract-aberrant oral frenula-growth delay syndrome
CAHMR syndrome
Cataract-hypertrichosis-intellectual disability syndrome is characterized by congenital cataract, generalized hypertrichosis and intellectual deficit. It has been described in two Egyptian sibs born to consanguineous parents. It is transmitted as an autosomal recessive trait.
Cataract-hypertrichosis-intellectual disability syndrome
HIE
Hypoxic and ischemic brain injury in the newborn
Hypoxic-ischemic encephalopathy
Perinatal asphyxia
Perinatal hypoxia
Neonatal hypoxic and ischemic brain injury
Vulvar intraepithelial tumor
Vulvar intraepithelial neoplasia
HSV keratitis
Herpetic keratitis
Herpes simplex virus keratitis
Infectious epithelial keratitis is a rare, potentially sight-threatening, acquired ocular disease chracterized by corneal epithelium inflammation resulting from viral (mainly Herpes Simplex virus), bacterial, fungic or protist infection, manifesting with variable symptoms, such as conjunctival hyperemia, lacrimation, rapid onset of pain, blurred vision and/or photophobia, depending on the causative agent.
Infectious epithelial keratitis
Neurotrophic keratitis
Neurotrophic keratopathy is a rare degenerative disease of the cornea characterized by reduction or loss of corneal sensitivity that can be asymptomatic or present with red-eye and, during the early stages of the disease, a minor decrease in visual acuity. It eventually leads to loss of vision.
Neurotrophic keratopathy
Herpes simplex (HSV) stromal keratitis is an infectious ocular disease of either necrotizing or non-necrotizing form, due to an HSV infection, and characterized by corneal stromal necrosis, inflammation, ulceration and infiltration by leukocytes. Corneal perforation and blindness can also occur in severe cases.
Stromal keratitis
use http://www.orpha.net/ORDO/Orphanet_281244 with label: Autosomal ichthyosis syndrome with other associated signs
OBSOLETE: Congenital cataract-ichthyosis syndrome
Endotheliitis
NF1-like syndrome
Neurofibromatosis 1-like syndrome
Legius syndrome, also known as NF1-like syndrome, is a rare, genetic skin pigmentation disorder characterized by multiple café-au-lait macules with or without axillary or inguinal freckling.
Legius syndrome
SOLAMEN syndrome
Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome is a rare, genetic, polymalformative syndrome characterized by progressive, proportionate, asymmetric segmental overgrowth (with soft tissue hypertrophy and ballooning effect) that develops and progresses rapidly in early childhood, arteriovenous and lymphatic vascular malformations, lipomatosis and linear epidermal nevus (arranged in whorls along the lines of Blaschko). Clinical symptoms of Cowden syndrome, such as macrocephaly and progressive development of numerous hypertrophic hamartomatous and neoplastic lesions involving multiple organs and systems, are also associated. Patients present an increased risk of developing cancer.
Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome
Nephrogenic fibrosing dermopathy
Nephrogenic systemic fibrosis (NSF) is a rare systemic fibrosing condition observed in renally impaired patients and characterized by a hardening and thickening of the skin with fibrotic plaques or papules, pruritus, joint pain and stiffness, muscle weakness, limitation of range of motion, and yellowed eyes. It is generally associated with administration of gadolinium-based magnetic resonance imaging contrast agents (GBCA) in patients with kidney disease.
Nephrogenic systemic fibrosis
Intractable diarrhea-choanal atresia-eye anomalies syndrome is characterised by the association of intractable diarrhoea of infancy with choanal atresia. Short stature, a prominent and broad nasal bridge, micrognathia, single palmar creases, chronic corneal inflammation, cytopenia, and abnormal hair texture were also reported. So far, the syndrome has been described in three children from the same family. The absence of intellectual deficit and immune deficiency allow this syndrome to be distinguished from other forms of intractable diarrhoea of infancy described previously.
Intractable diarrhea-choanal atresia-eye anomalies syndrome
GSD due to muscle and heart glycogen synthase deficiency
GSD type 0b
Glycogen storage disease type 0b
Glycogenosis due to muscle and heart glycogen synthase deficiency
Glycogenosis type 0b
Glycogen storage disease due to muscle and heart glycogen synthase deficiency is characterised by muscle and heart glycogen deficiency. It has been described in three siblings (two brothers and their younger sister). The older brother died at 10.5 years of age as a result of sudden cardiac arrest and the younger brother presented with hypertrophic cardiomyopathy, abnormal heart rate and blood pressure during exercise, and muscle fatigability. The sister showed no symptoms but a lack of glycogen was identified through muscle biopsy. The syndrome is caused by homozygous missense mutations in the gene encoding muscle glycogen synthase.
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
Cardiac anomalies-heterotaxy syndrome is characterised by non-compaction of the ventricular myocardium, bradycardia, pulmonary valve stenosis, and secundum atrial septal defect. Laterality sequence anomalies are also present. So far, the syndrome has been described in nine members from three generations of the same family. Transmission is autosomal dominant and linkage to chromosome 6p24.3-21.2 was reported.
Cardiac anomalies-heterotaxy syndrome
Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome is characterised by immune deficiency, gonadal dysgenesis and fatal lung fibrosis. So far, it has been described in two sisters born to consanguineous parents. Both karyotypes were normal female (46,XX). No genetic anomalies could be identified by comparative genome hybridization analysis of their genomes or by analysis of genes known to be associated with these types of anomalies.
Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome
This syndrome is characterised by tall stature, learning difficulties and facial dysmorphism.
Overgrowth-macrocephaly-facial dysmorphism syndrome
Ataxia-delayed dentition-hypomyelination syndrome
Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome is a rare, genetic, neurological disorder characterized by early-onset, progressive ataxia, white matter hypomyelination and cerebellar atrophy on brain MRI imaging, and various dental abnormalities, including hypodontia, delayed primary tooth eruption, complete retention of the primary maxillary central incisors and abnormal shape of the permanent maxillary incisors.
Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome
Bardet-Biedl syndrome 12
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_313795 with label: Jawad syndrome
Microcephaly-digital anomalies-intellectual disability syndrome
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_3255 with label: Filippi syndrome
Microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome
This syndrome is characterised by the association of multiple capillary malformations (CM) with an arteriovenous malformation (AVM) and arteriovenous fistulas.
Pellucid marginal degeneration
Foamy myocardial transformation of infancy
Infantile cardiomyopathy with histiocytoid change
Infantile xanthomatous cardiomyopathy
Oncocytic cardiomyopathy
Histiocytoid cardiomyopathy is an arrhythmogenic disorder characterised by cardiomegaly, severe cardiac arrhythmias or sudden death, and the presence of histiocyte-like cells within the myocardium.
Histiocytoid cardiomyopathy
Czech dysplasia, metatarsal type is a form of skeletal dysplasia characterised by severe arthropathy beginning in childhood and hypoplasia/dysplasia of the third, fourth and/or fifth toes.
Czech dysplasia, metatarsal type
Hepatoencephalopathy due to COXPD1
Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 is a rare, inherited mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by intrauterine growth retardation, metabolic decompensation with recurrent vomiting, persistent severe lactic acidosis, encephalopathy, seizures, failure to thrive, severe global developmental delay, poor eye contact, severe muscular hypotonia or axial hypotonia with limb hypertonia, hepatomegaly and/or liver dysfunction and/or liver failure, leading to fatal outcome in severe cases. Neuroimaging abnormalities may include corpus callosum thinning, leukodystrophy, delayed myelination and basal ganglia involvement.
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Intrauterine adhesions
Intrauterine synechiae
Asherman syndrome
Cataract-microcornea syndrome is characterized by the association of congenital cataract and microcornea without any other systemic anomaly or dysmorphism.
Cataract-microcornea syndrome
ACY1D
N-acyl-L-amino acid amidohydrolase deficiency
Aminoacylase 1 deficiency (ACY1D) is an inborn error of metabolism marked by a characteristic pattern of urinary N-acetyl amino acid excretion and neurologic symptoms.
Neurological conditions associated with aminoacylase 1 deficiency
LCCS2
Multiple contracture syndrome, Israeli-Bedouin type
Lethal congenital contracture syndrome type 2 is a rare arthrogryposis syndrome characterized by multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cell degeneration, skeletal muscle atrophy (mainly in the lower limbs), presence of a markedly distended urinary bladder and absence of hydrops, pterygia and bone fractures. Other craniofacial (e.g. cleft palate, facial palsy) and ocular (e.g. anisocoria, retinal detachment) anomalies may be additionally observed. The disease is usually neonatally lethal however, survival into adolescence has been reported.
Lethal congenital contracture syndrome type 2
LCCS3
Lethal congenital contracture syndrome type 3 is a rare arthrogryposis syndrome characterized by clinical features identical to Lethal congenital contracture syndrome type 2 (i.e. multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cells degeneration, skeletal muscle atrophy (mainly in the lower limbs), in the absence of hydrops, pterygia or bone fractures), but without bladder enlargement.
Lethal congenital contracture syndrome type 3
PLCA
Primary localized cutaneous amyloidosis
Cutaneous amyloidosis refers to a variety of skin diseases characterized histologically by the extracellular accumulation of amyloid deposits in the dermis. Rare forms include lichen amyloidosus, X-linked reticulate pigmentary disorder, primary localized cutaneous nodular amyloidosis, and macular amyloidosis (see these terms).
Primary cutaneous amyloidosis
PLCNA
Primary localized cutaneous nodular amyloidosis
Primary localized cutaneous nodular amyloidosis (PLCNA) is the most rare form of primary cutaneous amyloidosis (see this term), a skin disease characterized by the accumulation of amyloid deposits in the dermis, characterized clinically by yellowish waxy crusted nodules and papules on the face, lower extremities, trunk, scalp, and genitalia and histologically by the localized deposition of immunoglobulin-derived amyloid in the papillary dermis and subcutis. PLCNA can be associated with connective tissue disorders such as Sjögrens syndrome and CREST syndrome (see these terms).
Nodular cutaneous amyloidosis
Macular amyloidosis (MA) is a rare chronic form of cutaneous amyloidosis (see this term), a skin disease characterized by the accumulation of amyloid deposits in the dermis, clinically characterized by pruritic hyperkeratotic gray-brown macules that give a rippled or reticulated pattern of pigmentation usually in the upper back and extensor sites of arms, forearms and legs, and histologically by the deposition of amyloid in the upper dermis and close to the basal cell layer of the epidermis. MA is commonly associated with other skin diseases, such as atopic dermatitis.
Macular amyloidosis
Adhesive arachnoiditis
Chronic arachnoiditis
Arachnoiditis (ARC) is a chronic inflammation of the arachnoid layer of the meninges, of which adhesive arachnoiditis is the most severe form, characterized by debilitating, intractable neurogenic back and limb pain and a range of other neurological problems.
Arachnoiditis
Endometriosis outside pelvis
Rare endometriosis is a rare, non-malformative gynecologic disease characterized by the presence of functional endometrial glands and stroma in extrapelvic locations, such as lungs, pleura, kidneys, bladder, abdominal wall, umbilicus, and cesarean section scar among others. Clinical manifestations are menstrually-related and depend on the location of the ectopic tissue, but in general include pain, mass/nodule, swelling and/or bleeding in the involved area.
Extrapelvic endometriosis
OPHN1 syndrome
Oligophrenin-1 syndrome
X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities.
X-linked intellectual disability-cerebellar hypoplasia syndrome
Ter Haar syndrome
Frank-ter Haar syndrome (formerly considered as an autosomal recessive form of Melnick-Needles syndrome; see this term) is defined by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay.
Frank-Ter Haar syndrome
Lemierre postanginal sepsis
Postanginal sepsis secondary to orophyngeal infection
Septic phlebitis of the internal jugular vein
and that is characterized by septic thrombophlebitis of the internal jugular vein that leads to septic, usually pulmonary, embolism, associated with ENT (ear, nose, and throat) infection that manifests with fever, neck pain, and tonsillopharyngitis.
Lemierre syndrome
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_293864 with label: Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome
MMND
Madras motor neuron disease (MMND) is characterized by weakness and atrophy of limbs, multiple lower cranial nerve palsies and sensorineural hearing loss.
Madras motor neuron disease
use http://www.orpha.net/ORDO/Orphanet_2348 with label: Familial partial lipodystrophy, Dunnigan type
OBSOLETE: Laminopathy type Decaudain-Vigouroux
Question mark ear syndrome
Auriculo-condylar syndrome (ACS) presents with bilateral external ear malformations ('question mark' ears), mandibular condyle hypoplasia, microstomia, micrognathia, microglossia and facial asymmetry. Additional manifestations include hypotonia, ptosis, cleft palate, puffy cheeks, developmental delay, impaired hearing and respiratory distress.
Auriculocondylar syndrome
Macrocephalic sperm head syndrome
Male infertility due to macrozoospermia
Male infertility due to large-headed multiflagellar polypoid spermatozoa is a male infertility due to sperm disorder characterized by the presence, in sperm, of a very high percentage of spermatozoa with enlarged head, irregular head shape, multiple flagella, and abnormal midpiece and acrosome. It is generally associated with severe oligoasthenozoospermia and a high rate of sperm chromosomal abnormalities (polyploidy, aneuploidy).
Male infertility due to large-headed multiflagellar polyploid spermatozoa
LBSL
Leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome
This disease is characterised by progressive cerebellar ataxia with pyramidal and spinal cord dysfunction, associated with distinctive MRI anomalies and increased lactate in the abnormal white matter.
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
Isolated optic nerve hypoplasia/aplasia
Syndromic optic nerve hypoplasia
COXPD5
Combined oxidative phosphorylation defect type 5
This syndrome is characterised by severe hypotonia, lactic academia and congenital hyperammonaemia.
Hypotonia with lactic acidemia and hyperammonemia
This syndrome is characterised by the presence of a unilateral angioma on the face and autistic developmental problems characterised by language delay and atypical social interactions.
Autism-facial port-wine stain syndrome
Choanal atresia (CA) is a congenital anomaly of the posterior nasal airway characterized by the obstruction of one (unilateral) or both (bilateral) choanal aperture(s), with clinical manifestations ranging from acute respiratory distress to chronic nasal obstruction.
Choanal atresia
Unilateral choanal atresia is a, usually sporadic, congenital anomaly that is more commonly seen in females than in males (2:1), where the nose is blocked by bony or soft tissue formed during embryologic development on only one side (more commonly on the right side) and which is characterized by nasal obstruction and rhinorrhea, usually presenting at birth but that may go undetected until a respiratory infection aggravates the condition.
Choanal atresia, unilateral
Bilateral choanal atresia is a congenital anomaly that is usually sporadic (but some familial cases have been reported), is more commonly seen in females than in males (2:1), and where the nose is blocked on both sides by bony or soft tissue formed during embryological development. It is characterized by respiratory distress relieved by crying and rhinorrhea that presents at birth.
Choanal atresia, bilateral
use http://www.orpha.net/ORDO/Orphanet_2415 with label: Rare lymphatic malformation
OBSOLETE: Cervicofacial lymphatic malformation
Primary laryngeal lymphangioma is a rare, benign, congenital malformation of the lymphatic system characterized by a polypoidal, variable-sized, soft tissue mass located in the larynx. Most lesions manifest by the 2nd year of life and, depending on the size, patients may present with changes in voice, dysphagia, stridor, airway obstruction and/or respiratory distress. Cystic hygroma of the neck is frequently associated.
Primary laryngeal lymphangioma
Neonatal brainstem dysfunction is a rare neurologic disease characterized by the association of suction-swallowing dysfunction, abnormal laryngeal sensitivity and motility (manifesting with dyspnea or obstructive apnea-hypopnea), gastroesophageal reflux (generally resistant to medication) and cardiac vagal overactivity (e.g. brachycardia, vasovagal episodes) of varying degrees of severity. Impaired social interaction has also been reported.
Neonatal brainstem dysfunction
Congenital vocal cord paralysis
Congenital laryngeal palsy is a rare larynx anomaly characterized by unilateral or bilateral paralysis of the vocal cords as a result of dysfunction of the motor nerve supply to the larynx. Patients typically present at birth (or shortly thereafter) with stridor, weak or breathy cry, dysphonia or aphonia, feeding or aspiration difficulties and, occasionally, respiratory compromise. Neurological disease, masses that cause compression and aberrant vessels are often associated. Most cases resolve spontaneously over 6-12 months.
Congenital laryngeal palsy
Laryngotracheal angioma
CYP5
CYP5A1
THAS
TXAS
TXS
cytochrome P450, family 5, subfamily A, polypeptide 1
thromboxane A synthase 1
SIGMA1B
adaptor related protein complex 1 subunit sigma 2
CHARGE association
Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome
Hall-Hittner syndrome
CHARGE syndrome is a multiple congenital anomaly syndrome characterized by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's).
CHARGE syndrome
Crome syndrome
Cataract - nephropathy - encephalopathy syndrome describes a lethal combination of manifestations including short stature, congenital cataracts, encephalopathy with epileptic fits, and postmortem confirmation of nephropathy (renal tubular necrosis). The combination of cataract - nephropathy - encephalopathy has been described in 2 female infant children of first cousin parents. The infants did not survive beyond 4 and 8 months respectively. There have been no further descriptions in the literature since 1963.
Cataract-nephropathy-encephalopathy syndrome
Pierre Robin sequence associated with collagen disease
Pierre Robin syndrome associated with collagen disease
Rare disease with Pierre Robin syndrome
Pierre Robin sequence associated with a chromosomal anomaly
Pierre Robin syndrome associated with a chromosomal anomaly
Pierre Robin sequence associated with branchial archs anomalies
Pierre Robin syndrome associated with branchial archs anomalies
Pierre Robin sequence associated with bone disease
Pierre Robin syndrome associated with bone disease
Teratogenic Pierre Robin sequence
Teratogenic Pierre Robin syndrome
use http://www.orpha.net/ORDO/Orphanet_138044 with label: Rare disease with Pierre Robin syndrome
OBSOLETE: Syndrome associated with Pierre Robin syndrome
OBSOLETE: Pierre Robin syndrome associated with miscellaneous anomalies
Karandikar-Maria-Kamble syndrome
Cataract-intellectual disability-anal atresia-urinary defects syndrome is characterised by congenital cataracts with squint, intellectual deficit, anomalies of the genitourinary tract (rectovesical fistula, micropenis, undescended testis, and hypospadias), imperforate anus and other anomalies.
Cataract-intellectual disability-anal atresia-urinary defects syndrome
GBP
LCEH
LCHAD
MTPA
gastrin-binding protein
long-chain 2-enoyl-CoA hydratase
long-chain-3-hydroxyacyl-CoA dehydrogenase
mitochondrial trifunctional protein, alpha subunit
hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha
Schaap-Taylor-Baraitser syndrome
Cataract-deafness-hypogonadism syndrome is an extremely rare multiple congenital abnormality syndrome, described in only three brothers to date, that is characterized by the association of congenital cataract, sensorineural deafness, hypogonadism, mild intellectual deficit, hypertrichosis, and short stature. There have been no further descriptions in the literature since 1995.
Cataract-deafness-hypogonadism syndrome
CILD6
NM23-H8
SPTRX2
Sperm-specific thioredoxin 2
NME/NM23 family member 8
CLR19.3
Monarch1
PAN6
PYPAF7
RNO2
nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12
NLR family pyrin domain containing 12
CD135
FLK2
STK1
fms related tyrosine kinase 3
CD140b
JTK12
PDGFR1
platelet derived growth factor receptor beta
Gsh4
LIM homeobox 4
SRY-box 3
FA complementation group I
EST2
TCS1
TP2
TRT
hEST2
telomerase reverse transcriptase
SCARNA19
TRC3
hTR
small Cajal body-specific RNA 19
telomerase RNA component
BSF2
HSF
IL-6
interferon, beta 2
interleukin 6
IBSN
MGC841
SNDI
nuclear pore glycoprotein p62
p62
nucleoporin 62
SIX homeobox 5
ATGL
TTS-2.2
desnutrin
iPLA2zeta
patatin like phospholipase domain containing 2
BAM
Bamacan
HCAP
SMC3L1
bamacan proteoglycan
structural maintenance of chromosomes 3
CAGH45
HOPA
KIAA0192
OKS
OPA1
TRAP230
mediator complex subunit 12
TACTILE
CD96 molecule
CX40
connexin 40
gap junction protein alpha 5
DMP4
G-CK
dentin matrix protein 4
golgi casein kinase
FAM20C, golgi associated secretory pathway kinase
KIAA1034
SATB homeobox 2
HPE9
THP1
THP2
tax helper protein 1
tax helper protein 2
tax-responsive element-2 holding protein
GLI family zinc finger 2
CRIPTO
Cripto-1
teratocarcinoma-derived growth factor 1
APRF
signal transducer and activator of transcription 3
retinol binding protein 4 receptor
stimulated by retinoic acid 6
renin
AG2S
AGTR1A
AT1
AT1B
AT2R1
AT2R1A
AT2R1B
HAT1R
angiotensin II receptor type 1
MRSR
SPMSY
SpS
spermine synthase
STB2
VANGL planar cell polarity protein 1
methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1
amnionless
amnion associated transmembrane protein
CMT4H
FRABP
Frabin
ZFYVE6
FYVE, RhoGEF and PH domain containing 4
CTRP5
LORD
complement-c1q tumor necrosis factor-related protein 5
myonectin
CD221
IGFIR
IGFR
JTK13
insulin like growth factor 1 receptor
JHDM1F
KDM7B
KIAA1111
ZNF422
jumonji C domain-containing histone demethylase 1F
PHD finger protein 8
HBA-T3
hemoglobin subunit alpha 1
DSS1
ECD
SHSF1
Shfdg1
deleted in split-hand/foot 1
SEM1, 26S proteasome complex subunit
GMP1
OFC10
PIC1
SMT3C
SMT3H3
SUMO-1
small ubiquitin-like modifier 1
Martsolf syndrome
This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
Cataract-intellectual disability-hypogonadism syndrome
ARMD6
CORD11
retina and anterior neural fold homeobox 2
ARMD7
HtrA
IGFBP5-protease
HtrA serine peptidase 1
KCNQ1 antisense RNA 2 (non-protein coding)
KCNQ1 overlapping transcript 1 (non-protein coding)
KCNQ1-AS2
KvDMR1
KvLQT1-AS
LIT1
non-protein coding RNA 12
KCNQ1 opposite strand/antisense transcript 1
flavocytochrome b-558 alpha polypeptide
p22-PHOX
cytochrome b-245 alpha chain
C-Raf proto-oncogene, serine/threonine kinase
CRAF
Raf-1
c-Raf
Raf-1 proto-oncogene, serine/threonine kinase
CELIAC1
major histocompatibility complex, class II, DQ alpha 1
hILP
X-linked inhibitor of apoptosis
NME1
RMRPR
RRP2
RNA component of mitochondrial RNA processing endoribonuclease
Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome
Index finger anomaly-Pierre Robin syndrome
Micrognathia digital syndrome
Palatodigital syndrome, Catel-Manzke type
Pierre Robin sequence-hyperphalangy-clinodactyly syndrome
Pierre Robin syndrome-hyperphalangy-clinodactyly syndrome
Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence (see this term) comprising micrognathia, cleft palate and glossoptosis.
Catel-Manzke syndrome
HB9
HOXHB9
SCRA1
motor neuron and pancreas homeobox 1
MTPB
mitochondrial trifunctional protein, beta subunit
hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta
ACTSA
actin, alpha 2, smooth muscle, aorta
GROS1
LEPRECAN
growth suppressor 1
procollagen-proline 3-dioxygenase
prolyl 3-hydroxylase 1
CASP
LEPREL3
P3H5
leprecan-like 3
prolyl 3-hydroxylase family member 5 (non-enzymatic)
cartilage associated protein
Casp-8
FLICE
MACH
MCH5
caspase 8
TRNL1
mitochondrially encoded tRNA leucine 1 (UUA/G)
This syndrome is characterised by cortical blindness, intellectual deficit, and polydactyly.
Cortical blindness-intellectual disability-polydactyly syndrome
trnK
mitochondrially encoded tRNA lysine
12S
MOTS-c
mitochondrial open-reading-frame of the twelve S rRNA type-c
mitochondrially encoded 12S RNA
trnQ
mitochondrially encoded tRNA glutamine
CHILD nevus
Congenital hemidysplasia with ichthyosiform nevus and limbs defects
CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies.
CHILD syndrome
Hunter-Thompson-Reed syndrome
This syndrome is characterized by night blindness, skeletal abnormalities (sloping shoulders, joint hyperextensibility, minor radiological anomalies) and characteristic facies (periorbital anomalies, malar flatness, retrognathia).
Night blindness-skeletal anomalies-dysmorphism syndrome
use http://www.orpha.net/ORDO/Orphanet_93890 with label: Rare developmental defect during embryogenesis
Developmental anomaly of metabolic origin
Rare skeletal development disorder
Rare bone development disorder
use http://www.orpha.net/ORDO/Orphanet_139012 with label: Rare bone development disorder
OBSOLETE: Chondrodysplastic malformation syndrome
OBSOLETE: Non-chondrodysplastic malformation syndrome affecting bones
Malformation syndrome with short stature
Overgrowth/obesity syndrome
Malformation syndrome with skin/mucosae involvement
Rare developmental defect with connective tissue involvement
Progeroid syndrome
Branchial arch or oral-acral syndrome
Orofacial clefting syndrome
Malformation syndrome with odontal and/or periodontal component
TRY2
trypsin 2
serine protease 2
CLCR
ELA4
caldecrin
elastase 4
chymotrypsin C
delta 4-3-ketosteroid-5-beta-reductase
aldo-keto reductase family 1 member D1
BCL11A-L
BCL11A-S
BCL11A-XL
CTIP1
HBFQTL5
ZNF856
B cell CLL/lymphoma 11A
AMPH2
SH3P9
amphiphysin II
bridging integrator 1
SNF7-2
Shax1
VPS32B
charged multivesicular body protein 4B
RAD10
ERCC excision repair 1, endonuclease non-catalytic subunit
TEL
TEL oncogene
ETS variant 6
EMSP
EMSP1
KLK-L1
PSTS
enamel matrix serine proteinase 1
kallikrein related peptidase 4
SCDO2
bHLHc6
mesoderm posterior bHLH transcription factor 2
enamelysin
matrix metallopeptidase 20
egg-derived tyrosine phosphatase homolog (Drosophila)
hEDTP
hJumpy
myotubularin related protein 14
CARD7
CLR17.1
DEFCAP
KIAA0926
NAC
VAMAS1
nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1
NLR family pyrin domain containing 1
CI-MWFE
MWFE
NADH:ubiquinone oxidoreductase (complex 1)
complex I MWFE subunit
type I dehydrogenase
NADH:ubiquinone oxidoreductase subunit A1
FANCN
Fanconi anemia, complementation group N
partner and localizer of BRCA2
HCP1
MGC9564
PCFT
heme carrier protein 1
proton-coupled folate transporter
solute carrier family 46 member 1
CMPST
hCST
solute carrier family 35 member A1
DYT3/TAF1
KAT4
NSCL2
TAFII250
TATA-box binding protein associated factor 1
CIP98
PDZD7B
USH2D
whirlin
Cerebro-costo-mandibular syndrome (CCMS) is characterized at birth by posterior rib gaps and orofacial anomalies reminiscent of Pierre Robin syndrome (see this term) that include palatal defects (short hard palate, absent soft palate, absent uvula), micrognathia and glossoptosis.
Cerebrocostomandibular syndrome
use http://www.orpha.net/ORDO/Orphanet_621 with label: Hereditary methemoglobinemia
OBSOLETE: Recessive hereditary methemoglobinemia type 1
OBSOLETE: Recessive hereditary methemoglobinemia type 2
Isolated craniosynostosis
Syndromic craniosynostosis
X-linked cerebral adrenoleukodystrophy (X-CALD), a subtype of X-linked adrenoleukodystrophy (X-ALD, see this term), is a peroxisomal disease characterized by severe inflammatory demyelination in the brain, and often associated with adrenal insufficiency.
X-linked cerebral adrenoleukodystrophy
Adrenomyeloneuropathy (AMN) is an adult form of the peroxisomal disease X-linked adrenoleukodystrophy (X-ALD, see this term), characterized by spastic paraparesia and often associated with peripheral adrenal insufficiency in males.
Adrenomyeloneuropathy
Pascual-Castroviejo syndrome type 1
Cerebro-facio-thoracic dysplasia or Pascual-Castroviejo syndrome type 1 is a rare syndrome characterized by facial dysmorphism, intellectual deficit and costovertebral abnormalities.
Cerebrofaciothoracic dysplasia
DRESS syndrome
Drug reaction eosinophilic systemic syndrome
DRESS syndrome (Drug Rash with Eosinophilia and Systemic Symptoms) is a hypersensitivity reaction characterized by a generalized skin rash, fever, eosinophilia, lymphocytosis and visceral involvement (hepatitis, nephritis, pneumonitis, pericarditis and myocarditis) and, in some patients, reactivation of human herpes virus 6.
Drug rash with eosinophilia and systemic symptoms
Combined prosaposin deficiency
Encephalopathy due to prosaposin deficiency is a lysosomal storage disease belonging to the group of sphingolipidoses.
Encephalopathy due to prosaposin deficiency
Carney's triad is a rare non-hereditary condition characterized by gastrointestinal stromal tumors (GIST, intramural mesenchymal tumors of the gastrointestinal tract with neuronal or neural crest cell origin), pulmonary chondromas and extraadrenal paragangliomas.
Carney triad
Congenital panfollicular nevus is a rare, benign, skin tumor disorder characterized by the presence of congenital, large (few centimeters), elevated, well-circumscribed, pink-tan, multinodular, non-ulcerative, bosselated-surface skin lesions located on the neck, scalp or hand and which enlarge with time. Histologically, hamartomatous proliferation containing irregularly arranged, malformed hair follicles in various stages of development, surrounded by fibrous tissue and densely distributed within the dermis is observed.
Congenital panfollicular nevus
Acute transverse myelitis (ATM) is an inflammatory demyelinating disorder of the spinal cord that can be either idiopathic (IATM; see this term) or secondary to a known cause (SATM; see this term).
Acute transverse myelitis
Disease-associated transverse myelitis
Secondary acute transverse myelitis (ATM) is characterized by focal inflammation within the spinal cord due to a known cause, usually an inflammatory disease.
Secondary acute transverse myelitis
ATM/TM
Idiopathic acute transverse myelitis (ATM) is an immune-mediated inflammatory demyelinating disorder of the spinal cord with motor, sensory and autonomic involvement.
Idiopathic acute transverse myelitis
POMA
Perioral myoclonia with absences is a rare epilepsy syndrome characterized by absence seizures with perioral myoclonia as the main seizure type, accompanied by generalized tonic-clonic seizures, appearing before or together with absences. Consciousness is usually impaired, although to variable degree. Commonly observed absence status epilepticus, poor response to antiepileptic drugs and persistence of seizures into adulthood, in the presence of normal neurological status and intelligence, are additional clinical features of this syndrome.
Perioral myoclonia with absences
EMEA
Eyelid myoclonia with and without absences
Jeavons syndrome is an idiopathic generalized form of reflex epilepsy characterized by childhood onset, unique seizure manifestations, striking light sensitivity, and possible occurrence of generalized tonic-clonic seizures.
Jeavons syndrome
Giant cell histiocytomatosis
Lipoid dermatoarthritis
Multicentric reticulohistiocytosis (MRH) is a rare non-Langerhans cell histiocytosis characterized by the association of specific nodular skin lesions and destructive arthritis.
Multicentric reticulohistiocytosis
H-ABC
Hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC) is characterized by slowly progressive spasticity, extrapyramidal movement disorders (dystonia, choreoathetosis and rigidity), cerebellar ataxia, moderate to severe cognitive deficit, and anarthria/dysarthria.
Hypomyelination with atrophy of basal ganglia and cerebellum
Leukoencephalopathy with bilateral anterior temporal lobe cysts is a nonprogressive neurological disorder marked by intellectual deficit, spasticity and motor retardation associated with characteristic MRI findings of anterior bilateral temporal lobe cysts and multilobar leukoencephalopathy. So far, around 30 cases have been reported in the literature. Onset occurs in the first few months of life. Sensorineural deafness and microcephaly have also been reported. The etiology is unknown but an autosomal recessive mode of inheritance has been suggested.
Leukoencephalopathy with bilateral anterior temporal lobe cysts
Progressive cavitating leukoencephalopathy is characterized by acute episodes of neurological deficit (ataxia, dysarthria, seizures) with irritability and opisthotonus followed by either steady deterioration or alternating periods of rapid progression and prolonged periods of stability.
Progressive cavitating leukoencephalopathy
Balikova-Vermeesch syndrome
This syndrome is characterised by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct.
Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome
Retinopathy, Burgess-Black type
Autosomal recessive bestrophinopathy (ARB) is a retinal dystrophy, characterized by central visual loss in the first 2 decades of life, associated with an absent electrooculogram (EOG) light rise and a reduced electroretinogram (ERG).
Autosomal recessive bestrophinopathy
Sex reversion-kidneys, adrenal and lung dysgenesis syndrome
SERKAL (SEx Reversion, Kidneys, Adrenal and Lung dysgenesis) syndrome is characterised by female to male sex reversal and developmental anomalies of the kidneys, adrenal glands and lungs.
SERKAL syndrome
Bakrania-Ragge syndrome
MCOPS6
Syndromic microphthalmia type 6
gene, which has already been shown to play a role in eye development.
Microphthalmia with brain and digit anomalies
Grisart-Destrée syndrome
Trisomy 17q11.2
17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit.
17q11.2 microduplication syndrome
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_324737 with label: SRD5A3-CDG
SPG39
Spastic paraplegia due to NTE mutation
Spastic paraplegia due to neuropathy target esterase mutation
This syndrome is characterised by progressive spastic paraplegia and distal muscle wasting.
Autosomal recessive spastic paraplegia type 39
ARCA2
Autosomal recessive ataxia due to coenzyme Q10 deficiency
Autosomal recessive cerebellar ataxia type 2
Autosomal recessive spinocerebellar ataxia type 9
SCAR9
This syndrome is characterised by childhood-onset progressive ataxia and cerebellar atrophy.
Autosomal recessive ataxia due to ubiquinone deficiency
Autosomal dominant hereditary hemochromatosis
Ferroportin disease
Hemochromatosis due to defect in ferroportin
Hemochromatosis type 4 (also called ferroportin disease) is a form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin.
Hemochromatosis type 4
Bantu siderosis
African iron overload is a rare disorder described in sub-Saharan African populations and is characterized by iron overload due to excess dietary iron intake and possibly genetic factors, leading to hepatic portal fibrosis and micronodular cirrhosis.
African iron overload
This syndrome is characterized by the association of sensorineural hearing impairment and peripheral neuropathy.
Neuropathy with hearing impairment
CMT4J
Charcot-Marie-Tooth disease type 4J is a subtype of Charcot-Marie-Tooth disease type 4 characterized by childhood- to adulthood-onset of variably severe, rapidly progressive, axonal and demyelinating sensorimotor neuropathy typically manifesting with delayed motor development, proximal and distal asymmetric muscle weakness and atrophy of the lower and upper extremities, severe motor dysfunction with mildly reduced sensory impairment, and areflexia. Nerve conduction velocities range from very mildly to severely reduced.
Charcot-Marie-Tooth disease type 4J
Autosomal dominant distal juvenile spinal muscular atrophy type 1
dHMN1
Distal hereditary motor neuropathy type 1 is a rare neuromuscular disease characterized by slowly-progressive lower limb muscular weakness and atrophy, without sensory impairment. Additional clinical features may include pes cavus, hammertoe and increased muscle tone.
Distal hereditary motor neuropathy type 1
Distal spinal muscular atrophy type 2
dHMN2
dSMA2
Distal hereditary motor neuropathy type 2
Distal HMN V
Distal hereditary motor neuropathy type V
Distal spinal muscular atrophy type 5
dHMN5
Distal hereditary motor neuropathy type 5
Autosomal recessive distal spinal muscular atrophy type 3
Distal hereditary motor neuropathy type 3 and type 4
dHMN3 and dHMN4
dSMA3
Distal spinal muscular atrophy type 3 is a rare neuromuscular disease characterized by progressive muscular weakness and atrophy predominantly affecting distal parts of limbs, later involvement of proximal and trunk muscles with marked hyperlordosis and late diaphragmatic dysfunction.
Distal spinal muscular atrophy type 3
Autosomal recessive distal spinal muscular atrophy type 2
dHMNJ
Distal hereditary motor neuropathy, Jerash type is a rare, genetic neuromuscular disease characterized by progressive, symmetrical, moderate to severe, distal muscle weakness and atrophy, without sensory involvement, first affecting the lower limbs (towards the end of the first decade) and then involving (within two years) the upper extremities. Patients typically develop foot drop, pes varus, hammer toes and claw hands. Pyramidal tract signs (e.g. brisk knee reflexes, positive Babinski sign, absent ankle reflexes) are initially associated but regress as disease stabilizes (~10 years after onset).
Distal hereditary motor neuropathy, Jerash type
ATP7A-related distal motor neuropathy
DSMAX
SMAX3
X-linked dHMN3
X-linked dSMA3
X-linked distal hereditary motor neuropathy type 3
X-linked distal spinal muscular atrophy type 3 is a rare distal hereditary motor neuropathy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with normal deep tendon reflexes or absent ankle reflexes and minimal or no sensory loss, sometimes mild proximal weakness in the legs and feet and hand deformities in males.
X-linked distal spinal muscular atrophy type 3
HSAN with cough and gastroesophageal reflux
HSAN1B
Hereditary sensory and autonomic neuropathy type 1 with cough and gastroesophageal reflux
Hereditary sensory and autonomic neuropathy type IB
Hereditary sensory and autonomic neuropathy, type 1B (HSAN1B) is characterized by the association of type 1 HSAN with paroxysmal cough and gastroesophageal reflux (GOR).
Hereditary sensory and autonomic neuropathy type 1B
HSAN with deafness and global delay
This syndrome is characterized by a sensory and autonomic axonal neuropathy, sensorineural hearing loss and persistent global developmental delay.
Hereditary sensory and autonomic neuropathy with deafness and global delay
Mutilating HSAN with spastic paraplegia
This syndrome is characterized by the association of an axonal sensory and autonomic neuropathy with spastic paraplegia.
Mutilating hereditary sensory neuropathy with spastic paraplegia
X-linked HSAN with deafness
X-linked auditory neuropathy with peripheral sensory neuropathy type 1
This syndrome is characterized by the association of an axonal sensory and autonomic neuropathy with hearing loss.
X-linked hereditary sensory and autonomic neuropathy with deafness
Distal spinal muscular atrophy with vocal cord paralysis
dHMN7
Distal hereditary motor neuropathy type 7 is a rare, slowly progressive genetic peripheral neuropathy characterized by distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with uni- or bilateral vocal cord paresis leading to hoarse voice and breathing difficulties, and facial weakness.
Distal hereditary motor neuropathy type 7
Cerebrorenodigital syndrome
X-linked hydrocephalus-cerebellar agenesis-intellectual disability syndrome
This syndrome is characterised by infantile hypotonia followed by onset of ataxia, cataract and intellectual deficit by preschool age. Cerebral atrophy was also reported.
Hydrocephaly-cerebellar agenesis syndrome
MSH-R
alpha melanocyte stimulating hormone receptor
melanocortin 1 receptor
matriptase-2
transmembrane serine protease 6
Usher syndrome 1E (autosomal recessive, severe)
Chiari 4 malformation
Chiari IV malformation
Near total absence of cerebellum
Subtotal absence of cerebellum
exposure to toxins and infectious agents, metabolic disorders and a wide variety of rare genetic neurological diseases.
Isolated cerebellar agenesis
family with sequence similarity 83 member H
FBLN
fibulin 1
Ketoaciduria-intellectual disability-ataxia-deafness syndrome
Richards-Rundle syndrome is an extremely rare neurodegenerative disorder characterized by progressive spinocerebellar ataxia, sensorineural hearing loss, and hypergonadotropic hypogonadism associated with additional neurological manifestations (such as peripheral muscle wasting, nystagmus, intellectual disability or dementia) and ketoaciduria.
Richards-Rundle syndrome
YRS
YTS
tyrRS
tyrosine tRNA ligase 1, cytoplasmic
tyrosyl-tRNA synthetase
Bassen-Kornzweig disease
Homozygous familial hypobetalipoproteinemia
Abetalipoproteinemia/ homozygous familial hypobetalipoproteinemia (ABL/HoFHBL) is a severe form of familial hypobetalipoproteinemia (see this term) characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol, and by growth delay, malabsorption, hepatomegaly, and neurological and neuromuscular manifestations.
Abetalipoproteinemia
Campomelic dwarfism
Campomelic dysplasia is a very rare disorder characterised by a variable association of skeletal abnormalities (bowed and fragile long bones, pelvis and chest abnormalities, eleven rib pairs instead of the usual twelve), and extraskeletal abnormalities (facial dysmorphology, cleft palate, sexual ambiguity or sex reversal in two thirds of the affected boys, and brain, heart and kidney malformations).
Campomelic dysplasia
CFAP124
POC20
POC20 centriolar protein homolog (Chlamydomonas)
UBA1, ubiquitin-activating enzyme E1 homolog (yeast)
UBE1X
ubiquitin like modifier activating enzyme 1
OSMRB
oncostatin M receptor
FHL1B
FLH1A
Four-and-a-half LIM domains 1
KYO-T
LIM protein SLIMMER
SLIM1
XMPMA
four and a half LIM domains 1
bone morphogenetic protein 4
TIN2
TERF1 interacting nuclear factor 2
COQ8
coenzyme Q8 homolog (yeast)
coenzyme Q8A
MCT12
monocarboxylic acid transporter 12
solute carrier family 16 member 12
p150 glued homolog (Drosophila)
dynactin subunit 1
C3orf5
GIBT
GK002
MRP-S22
mitochondrial ribosomal protein S22
riplet
ring finger protein 135
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_1071 with label: Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
Inherited cancer-predisposing syndrome
Secondary hypoparathyroidism due to impaired parathormon secretion
Intraosseous hemangioma
Osseous venous malformation
Primary intraosseous venous malformation is a rare, genetic vascular anomaly characterized by severe blood vessel expansion (most frequently within the craniofacial bones) with painless bone enlargement (usually of mandibule, maxilla and/or orbital, nasal, and frontal bones), typically resulting in facial asymmetry and contour deformation. Midline abnormalities, such as diastasis recti, supraumbilical raphe, and hiatus hernia, are commonly associated. Additional features reported include gingival bleeding, ectopic tooth eruption, exophthalmos, loss of vision, nausea, and vomiting.
Primary intraosseous venous malformation
use http://www.orpha.net/ORDO/Orphanet_166 with label: Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy
OBSOLETE: Hereditary motor and sensory neuropathy
Autosomal dominant hereditary demyelinating motor and sensory neuropathy
Autosomal dominant hereditary axonal motor and sensory neuropathy
Autosomal recessive hereditary demyelinating motor and sensory neuropathy
use http://www.orpha.net/ORDO/Orphanet_64747 with label: X-linked Charcot-Marie-Tooth disease
OBSOLETE: X-linked recessive hereditary axonal motor and sensory neuropathy
Autosomal dominant dHMN
Autosomal dominant distal spinal muscular atrophy
Autosomal dominant distal hereditary motor neuropathy
Autosomal recessive dHMN
Autosomal recessive dSMA
Autosomal recessive distal spinal muscular atrophy
Autosomal recessive distal hereditary motor neuropathy
HSAN
Hereditary sensory and autonomic neuropathy
Autosomal dominant hereditary sensory and autonomic neuropathy
Autosomal recessive hereditary sensory and autonomic neuropathy
gene.
Autosomal dominant slowed nerve conduction velocity
trnE
mitochondrially encoded tRNA glutamic acid
LCA5, lebercilin
CORS3
FTM
JBTS7
KIAA1005
MKS5
Meckel syndrome, type 5
NPHP8
PPP1R134
fantom homolog
protein phosphatase 1, regulatory subunit 134
RPGRIP1 like
ABC-C
LBM180
ATP binding cassette subfamily A member 3
c-MAF
MAF bZIP transcription factor
Charlie M syndrome is a rare bone developmental disorder which belongs to a group of oromandibular limb hypogenesis syndromes that includes hypoglossia-hypodactyly and glossopalatine ankylosis (see these terms). The major anomalies which occur commonly in this group are hypoplasia of the mandible, syndactyly and ectrodactyly, small mouth, cleft palate, hypodontia, and facial paralysis. Patients with Charlie M syndrome also present with hypertelorism, absent or conically crowned incisors, and variable degrees of hypodactyly of the hands and feet. There have been no further descriptions in the literature since 1976.
Charlie M syndrome
Neuro-ophthalmological disease
Calderón-González-Cantu syndrome
Calderon-Gonzalez-Cantu syndrome is characterized by the association of stubby, coarse, sparse and fragile hair, eyebrows and eyelashes with photosensitivity and nonprogressive intellectual deficit without a demonstrable metabolic aberration.
Hair defect-photosensitivity-intellectual disability syndrome
JSRD
Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the ``molar tooth sign'' (MTS), a complex midbrain-hindbrain malformation recognizable on brain imaging. The MTS is characterized by cerebellar vermis hypodysplasia, thickening and malorientation of the superior cerebellar peduncles and abnormally deep interpeduncular fossa.
Joubert syndrome and related disorders
Severe acute respiratory syndrome is an infectious acute pulmonary disease induced by a coronavirus. It begins with flu-like symptoms, including high fever that may be accompanied by headache and myalgies, cough, and shortness of breath. Most people with SARS subsequently develop pneumonia.
Acute respiratory coronavirus infection
Salamon syndrome
Wooly hair-hypotrichosis-everted lower lip-outstanding ears syndrome
Woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome
Hyperlipidemia due to HL deficiency
Hyperlipidemia due to HTGL deficiency
Hyperlipidemia due to hepatic lipase deficiency
Hyperlipidemia due to hepatic triglyceride lipase deficiency
Hyperlipidemia due to hepatic triacylglycerol lipase deficiency is a rare, genetic hyperalphalipoproteinemia disorder characterized by elevated plasma cholesterol and triglyceride (TG) levels with a marked TG enrichment of low- and high-density lipoproteins (HDL), presence of circulating beta-very low density lipoproteins and elevated HDL cholesterol levels, in the presence of a very low, or undetectable, postheparin plasma hepatic lipase activity. Premature atherosclerosis and/or coronary heart disease may be associated.
Hyperlipidemia due to hepatic triacylglycerol lipase deficiency
Brachydactyly type B2 is a rare, genetic congenital limb malformation disorder characterized by hypoplasia/aplasia of distal and/or middle phalanges in fingers and toes II-V (frequently severe in fingers/toes IV-V, milder in fingers/toes II-III) in association with proximal, and occasionally distal, symphalangism, fusion of carpal/tarsal bones and partial cutaneous syndactyly. Additional reported features include proximal placement of thumbs, sensorineural hearing loss and farsightedness.
Brachydactyly type B2
Teunissen-Cremers syndrome
Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
Stapes ankylosis with broad thumbs and toes
Autosomal recessive limb-girdle muscular dystrophy type 2J (LGMD2J) is a form of limb-girdle muscular dystrophy that usually has a childhood onset (but can range from the first to third decade of life) of severe progressive proximal weakness, eventually involving the distal muscles. Some patients may remain ambulatory but most are wheelchair dependant 20 years after onset.
Autosomal recessive limb-girdle muscular dystrophy type 2J
BFNIS
Benign neonatal-infantile epilepsy
gene (2q24.3), encoding the voltage-gated sodium channel alpha-subunit Na(V)1.2. Transmission is autosomal dominant.
Benign familial neonatal-infantile seizures
Linear atrophoderma of Moulin (LAM) is characterized by mildly atrophic and hyperpigmented band-like lesions that follow the lines of Blaschko on the trunk or limbs. Since its initial description in 1992, less than 30 cases have been reported in the literature. Onset occurs during childhood or adolescence and the disease is non-progressive. There is no prior inflammation or subsequent scleroderma. The aetiology is unknown but as LAM follows the lines of Blaschko it has been suggested that the disease is caused by mosaicism of a predisposing gene.
Linear atrophoderma of Moulin
Ectodermal dysplasia-acanthosis nigricans syndrome
Lelis syndrome is characterised by the association of ectodermal dysplasia (hypotrichosis and hypohidrosis) with acanthosis nigricans.
Lelis syndrome
Short stature due to primary acid-labile subunit (ALS) deficiency is characterized by moderate postnatal growth deficit, markedly low circulating levels of insulin-like growth factor 1 (IGF-1) and insulin-like growth factor binding protein 3 (IGFBP-3), and hyperinsulinemia, in the absence of growth hormone (GH) deficiency or GH insensitivity.
Short stature due to primary acid-labile subunit deficiency
Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome
Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-spinal anomaly syndrome
CLOVE syndrome is characterized by Congenital Lipomatous Overgrowth, progressive, complex and mixed truncal Vascular malformations, and Epidermal nevi.
CLOVES syndrome
STAR syndrome
This syndrome is characterised by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia.
Syndactyly-telecanthus-anogenital and renal malformations syndrome
This syndrome is characterized by congenital thrombocytopenia associated with the presence of large platelets.
Autosomal dominant macrothrombocytopenia
This syndrome is characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate.
Bilateral microtia-deafness-cleft palate syndrome
PPK, Nagashima type
Palmoplantar hyperkeratosis, Nagashima type
Keratosis, Nagashima-type is a transgressive and nonprogressive palmoplantar keratoderma resembling a mild form of mal de Meleda (see this term).
Palmoplantar keratoderma, Nagashima type
Conorenal syndrome
Renal dysplasia-retinal pigmentary dystrophy-cerebellar ataxia-skeletal dysplasia syndrome
Saldino-Mainzer syndrome is characterised by the association of renal disease, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia.
Saldino-Mainzer syndrome
Retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome
RHYNS syndrome is characterised by the association of retinitis pigmentosa, hypopituitarism, nephronophthisis, and skeletal dysplasia.
RHYNS syndrome
Isolated angiitis of the central nervous system
PACNS
PCNSV
Primary angiitis of the central nervous system
Primary vasculitis of the central nervous system
Primary central nervous system vasculitis
OFD
Oral-facial-digital syndrome
Orofaciodigital syndrome
ACY2 deficiency
Aminoacylase 2 deficiency
Aspartoacylase deficiency
Spongy degeneration of the brain
Canavan disease (CD) is a neurodegenerative disorder; its spectrum varies between severe forms with leukodystrophy, macrocephaly and severe developmental delay, and a very rare mild/juvenile form characterized by mild developmental delay.
Pili trianguli et canaliculi
Uncombable hair syndrome (UHS), or pili trianguli et canaliculi, is a rare scalp hair shaft dysplasia.
Uncombable hair syndrome
OFD11
Oral-facial-digital syndrome type 11
Oral-facial-digital syndrome, Gabrielli type
Orofaciodigital syndrome, Gabrielli type
Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome (OFDS; see this term) with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects.
Orofaciodigital syndrome type 11
OFD9
Oral-facial-digital syndrome type 9
Oral-facial-digital syndrome with retinal abnormalities
Orofaciodigital syndrome with retinal abnormalities
Oral-facial-digital syndrome, type 9 is characterized by highly arched palate with bifid tongue and bilateral supernumerary lower canines, hamartomatous tongue, multiple frenula, hypertelorism, telecanthus, strabismus, broad and/or bifid nasal tip, short stature, bifid halluces, forked metatarsal, poly- and syndactyly, mild intellectual deficit and specific retinal abnormalities (bilateral optic disc coloboma and retinal dysplasia with partial detachment).
Orofaciodigital syndrome type 9
First branchial cleft cyst
First branchial cleft fistula
First branchial cleft anomaly
Second branchial cleft cyst
Second branchial cleft fistula
Second branchial cleft anomaly
Third branchial cleft cyst
Third branchial cleft fistula
Third branchial cleft anomaly
Fourth branchial cleft cyst
Fourth branchial cleft fistula
Fourth branchial cleft anomaly
Dermoid cyst of the neck
Cervical dermoid cyst is a rare, benign cutaneous neoplasm containing keratinized epithelium and dermal derivatives, such as hair follicles, sweat and sebaceous glands, smooth muscle or fibroadipose tissue which usually manifests as a slow-growing, painless mass in the submandibular or sublingual space. Depending on the location, and especially after sudden enlargement, it can cause dyspnea, dysphagia or dysphonia.
Cervical dermoid cyst
Dermoid cyst of the face
Facial dermoid cyst is a rare, benign cutaneous neoplasm containing keratinized epithelium and dermal derivatives, such as hair follicles, sweat and sebaceous glands, smooth muscle or fibroadipose tissue, which usually manifests as a firm, nonpulsatile mass, often with a sinus opening or a hair-bearing punctum, most commonly located in the periorbital and nasal area.
Facial dermoid cyst
Commissural lip fistula
Lower lip fistula
Cervicofacial enchondroma
Cervicofacial fibrochondroma
Enteric duplication cyst of the tongue
Foregut duplication cyst of the tongue
Gastric duplication cyst of the tongue
Digestive duplication cyst of the tongue is an extremely rare otorhinolaryngological malformation which occurs during early embryogenesis and is characterized by a single, and on occasion multiple, cystic lesion that is most frequently located in the anterior portion of the tongue, either deeply embedded within it or superficially on it. Depending mostly on size and location of the cyst, patients could be asymptomatic or could present a wide array of symptoms, such as varying degrees of respiratory and feeding difficulties, lingual swelling and protrusion, dysphagia, and more rarely, recurrent bleeding or brownish discharge from a lingual sinus.
Digestive duplication cyst of the tongue
External auditory canal stenosis/atresia
External auditory canal aplasia/hypoplasia
Oropharyngeal teratoma
Epignathus is a very rare and life threatening intraoral teratoma, usually arising from the maxilla, mandible, palate or base of skull and invading the cranium, nasopharynx or oral cavity. Epignathus is more commonly seen in females, and presents with various manifestations (depending on the tumor size) including obstructive polyhydramnios in the prenatal period and dyspnea, cyanosis, cough, difficulty in sucking and swallowing, and rarely vomiting (due to swallowing difficulties) postnatally. When large, they can lead to airway obstruction, asphyxia and death in the neonatal period.
Epignathus
Dacryocele
Dacryocystocele
Nasolacrimal mucocele
Nasolacrimal duct cyst describes a unilateral or bilateral congenital cyst of the nasolacrimal duct, which is almost always associated with dacryocystocele, presenting most commonly at birth or a few weeks of age (but rarely presenting in adulthood) as a benign, grayish blue mass in the inferomedial canthus or in the nasal cavity, that can cause epiphora, dacryocystitis (inflammation of the lacrimal sac) and nasal obstruction. It is more commonly reported in females.
Nasolacrimal duct cyst
Double nose
Polyrhinia
Polyrrhinia is an extremely rare, major congenital malformation characterized by complete duplication of the nose resulting in twofully developed noses often associated with choanal atresia, causing respiratory distress and necessitating surgical repair.
Polyrrhinia
Accessory nostril
Supernumerary nostril is an extremely rare congenital malformation characterized by the presence of one or more accessory nostrils, with or without accessory cartilage, located medially, above, below or laterally to the other nostrils. Unlike in polyrhinia (see this term) there is no duplication of the nasal septum/cavity. Supernumerary nostril is often associated with other congenital malformations usually of face.
Supernumerary nostril
Congenital tubular nose
Proboscis lateralis (PL) is a rare congenital facial abnormality characterized by failed development of the external nose on one side that is replaced by a tubular structure composed of skin and soft tissue usually attached at the inner canthus of the eye and therefore often associated with maldevelopment of the nasal cavity or paranasal sinuses of the affected side. PL is also associated with other craniofacial abnormalities such as orbital anomalies, cleft lip/palate, frontal encephalocele and holoprosencephaly (see these terms).
Proboscis lateralis
Nasal dermoid sinus cyst
Nasal dermoid cyst
Teratoma of the nasopharynx
Nasopharyngeal teratoma
Nasal glioma
Nasal glial heterotopia is a rare developmental abnormality presenting usually at birth or in early childhood (rarely in adulthood) as a benign, non-pulsatile mass that can lead to nasal obstruction, deformation of the septum and nasal bone, and respiratory distress if untreated. Nasal glial heterotopias have no communication with the central nervous system; however an associated defect in the cribriform plate is sometimes reported.
Nasal glial heterotopia
Nasal ganglioglioma is a rare tumor, presenting in newborns, containing both neuronal and astrocytic components and that can be endonasal, extranasal or both. It is usually identified as a nasal mass that may cause feeding difficulties and nasal obstruction.
Nasal ganglioglioma
Nasal encephalocele is an extracranial herniation of intracranial contents (that maintain a connection to the subarachnoid space) into the fonticulus frontalis, presenting with nasal broadening and/or as a compressible, blue, pulsatile mass near the nasal bridge (that enlarges on crying or with jugular vein compression) or as an intranasal mass originating in the cribiform plate and that can cause nasal obstruction or respiratory distress. Hydrocephalus and increased intracranial pressure are also reported in some cases.
Nasal encephalocele
Congenital subglottic stenosis
Congenital laryngeal cyst is a rare larynx anomaly characterized by a cyst involving the larynx or supraglottis locations, such as the epiglottis and vallecula. Timing and severity of presentation depend on the size of the cyst and its proximity to the glottis and range from severe prenatal airway obstruction leading to polyhydramnios and pulmonary hypoplasia to postnatal inspiratory stridor associated with muffled cry, hoarseness and cyanotic episodes, and to feeding difficulties and failure to thrive. It can be associated with laryngomalacia.
Congenital laryngeal cyst
Congenital tracheal stenosis
OAV spectrum
Unilateral or bilateral and asymmetric otomandibular dysplasia
Oculo-auriculo-vertebral spectrum
First branchial arch syndrome
Hemifacial microsomia
Laterofacial microsomia
Otomandibular dysostosis
Otomandibular syndrome
Hemifacial hypertrophy
Hemifacial hyperplasia is a rare morphological anomaly of the maxillofacial region characterized by unilateral overgrowth of all facial structures (bone, soft tissues, teeth), called true hemifacial hypertrophy, or overgrowth of one or more but not all facial structures, called partial hemifacial hypertrophy. It may be isolated or related to some syndromes (e.g. Beckwith-Wiedemann, Proteus, Klippel-Trenaunay-Weber, McCune-Albright syndrome, Neurofibromatosis type 1). It may be associated with airway obstruction, sensorineural hearing loss or swallowing difficulties.
Hemifacial hyperplasia
Hemifacial myohyperplasia is a rare developmental defect during embryogenesis characterized by unilateral hyperplasia of the facial musculature with no evidence of hyperplasia of bone or other organ systems. It clinically present with dimpling of the skin, ptosis, enophthalmos, narrow palpebral fissure, auricular displacement, smaller nasal vestibule, and nasal and chin deviation on the affected side. Facial paresis of the affected side and mild ipsilateral hypoplasia of the facial skeleton might be present.
Hemifacial myohyperplasia
Isolated aglossia and hypoglossia are terms covering the spectrum from partial to total absence of the tongue. These congenital malformations have been classified as part of the group of oromandibular-limb hypogenesis syndromes (OLHS).
Isolated congenital hypoglossia/aglossia
Cosack syndrome
Glossopalatine ankylosis is a disorder belonging to the group of oromandibular-limb hypogenesis syndromes (OLHS) and is characterised by the presence of an intraoral band of variable thickness attaching the tongue to the hard palate or maxillary alveolar ridge.
Glossopalatine ankylosis
Frontonasal arteriovenous malformation is a rare vascular anomaly characterized by abnormal communication between arteries and veins, bypassing the capillary bed, located in the frontonasal area. It may present with intermittent nasal bleeding, blurred vision, pustule formation and/or disfigurement. Overlying skin may be of normal appearance or may manifest a red, pulsatile mass with local rise of temperature. Other features may include pain, ulceration, excessive growth and/or congestive heart failure.
Frontonasal arteriovenous malformation
Arteriovenous malformation of maxilla
Maxillary arteriovenous malformation is a rare vascular anomaly characterized by an abnormal connection of the arterial and venous vasculature, without capillary connections, in the maxillofacial area, usually presenting with chronic, intermittent, and potentially life-threatening, hemorrhage. Association with infection, pain, pressure, pulsation, swelling, facial asymmetry, headache, ocular pain, tinnitus, otalgia, epistaxis, toothache and/or teeth mobility and compressibility into their sockets is possible, although it may also be asymptomatic.
Maxillary arteriovenous malformation
Arteriovenous malformation of mandible
Mandibular arteriovenous malformation is a rare vascular anomaly characterized by an abnormal connection of the arterial and venous vasculature, without capillary connections, in the mandibular area, commonly presenting with minor gingival bleeding, dental loosening, lower lip numbness, facial deformity and malocclusion. This usually high-flow vascular malformation may also present with potentially life-threatening, spontaneous, or tooth extraction-induced, hemorrhagic shock.
Mandibular arteriovenous malformation
NICH
and differ from rapidly involuting congenital hemangiomas (RICH; see this term) mainly because they do not undergo a postnatal involuting phase.
Non-involuting congenital hemangioma
RICH
and differ from non-involuting congenital haemangiomas (NICH; see this term) mainly because they undergo rapid postnatal involution.
Rapidly involuting congenital hemangioma
CAMS
Cerebrofacial arteriovenous metameric syndrome
CAMS1
Cerebrofacial arteriovenous metameric syndrome type 1
CAMS3
Cerebrofacial arteriovenous metameric syndrome type 3
Tarsal-carpal coalition syndrome is characterised by fusion of the carpals, tarsals, and phalanges.
Tarsal-carpal coalition syndrome
Diffuse lymphangioma
Diffuse lymphangiomatosis
Disseminated lymphangioma
Disseminated lymphangiomatosis
Disseminated lymphatic malformation
GLA
Generalized lymphatic anomaly
Diffuse lymphatic malformation
Isolated congenital maxillomandibular fusion
Isolated congenital syngnathia is a very rare developmental defect during embryogenesis disorder characterized by varying degrees of congenital fusion (ranging from simple mucosal adhesions to extensive bony fusion) of mandible to maxilla that is not associated with any other malformations. Patients present with mouth opening limitation (which could range from severe to minimal restriction) that typically results in feeding, swallowing and/or respiratory difficulties which may lead to failure to thive, malnutrition and/or temporomandibular joint ankylosis.
Isolated congenital syngnathia
Nasal dorsum fistula
Craniofacial cleft
Facial cleft
Midline facial cleft
Tessier number 0-14 and 30 facial cleft
Median facial cleft
Median cleft of the upper lip and maxilla is a rare, congenital, developmental defect during embryogenesis characterized by a midline vertical cleft through the upper lip and premaxillary bone (can also involve the nasal septum and central nervous system). The phenotypic spectrum is highly variable (ranging from a simple vermillion notch to a wide complete cleft) and hypo/hypertelorism, telecanthus, monophthalmia, flat or cleft nose, wide columella, median alveolar cleft and cranial malformations may be associated.
Median cleft of the upper lip and maxilla
Alar cleft
Alar rim cleft
Cleft nose
Isolated cleft of the ala nasi
Isolated coloboma of the nose
Tessier number 1 cleft
Paramedian nasal cleft is a rare developmental defect during embryogenesis characterized by a unilateral or bilateral coloboma of the nose, ranging in severity from a small notch, resulting in minor deviation of the nasal septum, to variable-sized clefts of the nasal ala which may be associated with small cysts or sinuses in the nasal midline. Defect may be isolated or may occur in association with cleft lip and/or other craniofacial anomalies (e.g. hypertelorism, broadening of nasal root, midline cleft). Dorsum and apex of nose are usually well preserved.
Paramedian nasal cleft
Orbitofacial cleft
Oblique facial cleft
Tessier number 4 facial cleft
Tessier number 5 facial cleft
Tessier number 6 facial cleft
Lateral facial cleft
Commissural facial cleft
Macrostomia
Transverse facial cleft
Tessier number 7 facial cleft
Midline cervical cleft (MCC) is a rare congenital anomaly characterized by the presence at birth of a vertical, atrophic and usually erythematous skin defect, lacking adnexal elements in the midline of the neck that may be attached to a subcutaneous fibrous cord of variable length; a superior skin tag; and an inferior, short (usually about 1 cm in length) sinus (possibly with presence of discharge). If untreated (by surgical removal) complications include restriction of neck extension due to contracture and scarring. It is sometimes associated with other developmental defects such as bifid mandible, thyroglossal duct and branchial cysts, and microgenia.
Midline cervical cleft
Cleft lip and alveolus is a fissure type embryopathy that involves the upper lip, nasal base and alveolar ridge in variable degrees.
Cleft lip and alveolus
Moran-Barroso syndrome
OFD12
Oral-facial-digital syndrome type 12
Orofaciodigital syndrome type 12 is a rare subtype of orofaciodigital syndrome, with sporadic occurrence, characterized by cardiac (septum hypertrophy) and central nervous system abnormalities (myelomeningocele, Sylvius aqueduct stenosis, corpus callosum agenesis, vermis hypoplasia), in addition to oral, facial and digital malformations (gingival frenulae, bifid tongue, supernumerary teeth, macrocephaly, hypertelorism, pre- and post-axial polydactyly in hands, preaxial polydactyly in feet and club feet). Skeletal anomalies, such as short tibiae and central, Y-shaped metacarpals, are also associated.
Orofaciodigital syndrome type 12
Degner syndrome
OFD13
Oral-facial-digital syndrome type 13
Orofaciodigital syndrome type 13 is a rare subtype of orofaciodigital syndrome, with sporadic occurrence, characterized by cardiac (mitral and tricuspid valve dysplasia) and neuropsychiatric manifestations (epilepsy, depression), in addition to oral, facial and digital malformations (lingual hamartomas, cleft lip, brachydactyly, clinodactyly, syndactyly of hands and feet). Leukoaraiosis, on brain MRI examination, is also associated.
Orofaciodigital syndrome type 13
Hypogonadism-short stature-coloboma-preaxial polydactyly syndrome
Biemond syndrome type 2 (BS2) is a rare genetic neurological and developmental disorder reported in a very small number of patients with a poorly defined phenotype which includes iris coloboma, short stature, obesity, hypogonadism, postaxial polydactyly, and intellectual disability. Hydrocephalus and facial dysostosis were also reported. BS2 shares features with Bardet-Biedl syndrome. There have been no further descriptions in the literature since 1997.
Biemond syndrome type 2
Aagenaes syndrome
Cholestasis-lymphedema syndrome is a rare genetic disorder characterized by neonatal intrahepatic cholestasis, often lessening and becoming intermittent with age, and severe chronic lymphedema which mainly affects the lower limbs. Patients often present with fat malabsorption leading to failure to thrive, fat soluble vitamin deficiency with bleeding, rickets, and neuropathy. In 25% of cases, cirrhosis occurs during childhood or later in life.
Cholestasis-lymphedema syndrome
Hardikar syndrome
Cholestasis-pigmentary retinopathy-cleft palate is a syndrome of multiple congenital malformations, characterized by an association of cleft lip and palate, patchy pigmentary retinopathy (cat's paw), obstructive liver disease (cholestasis, portal hypertension etc.) and obstructive renal disease (ectopic ureteric insertion, obstruction, vesicouretral reflux and hydronephrosis). Gastrointestinal tract involvement (malrotation, gastresophageal reflux etc.) and cardiac involvement (coarctation of aorta, pulmonary artery stenosis, etc.) have also been reported. An overlap with Kabuki syndrome is debated.
Cholestasis-pigmentary retinopathy-cleft palate syndrome
Calcium pyrophosphate dihydrate crystal deposition disease
Familial CC
Familial CPPD
Familial articular chondrocalcinosis
Hereditary CC
Hereditary articular chondrocalcinosis
Hereditary calcium pyrophosphate deposition
Familial calcium pyrophosphate deposition (CPPD) is a chronic inherited arthropathy characterized by chondrocalcinosis (CC; i.e. cartilage calcification), often associated with recurrent acute calcium pyrophosphate (CPP) crystal arthritis and polyarticular osteoarthritis (OA).
Familial calcium pyrophosphate deposition
use http://www.orpha.net/ORDO/Orphanet_93434 with label: Spondylodysplastic dysplasia
OBSOLETE: Platyspondylic lethal chondrodysplasia
Anaplastic thyroid carcinoma may represent the ultimate dedifferentiation step of thyroid tumorigenesis and is one of the most severe cancers in humans.
Anaplastic thyroid carcinoma
use http://www.orpha.net/ORDO/Orphanet_93465 with label: Lethal chondrodysplasia
OBSOLETE: Lethal chondrodysplasia, Moerman type
OBSOLETE: Lethal chondrodysplasia, Seller type
Nivelon-Nivelon-Mabille syndrome
Chondrodysplasia - disorder of sex development is an extremely rare disorder of sex development (see this term), reported in only two siblings (one terminated in pregnancy) to date, characterized by the clinical features of 46,XY complete gonadal dysgenesis (see this term; normal external female genitalia, lack of pubertal development, primary amenorrhea, and hypergonadotrophic hypogonadism) in association with severe dwarfism with generalized chondrodysplasia (bell-shaped thorax, micromelia, brachydactyly). Other reported features in the live sibling included eye anomalies (hypoplastic irides, myopia, coloboma of optic discs), dysmorphic features (deep-set eyes, upslanting palpebral fissures, puffy eyelids, large ears and mouth, mild prognathism), muscular hypoplasia, mild intellectual deficiency and severe microcephaly with cerebellar vermis hypoplasia. An autosomal recessive inheritance has been suggested.
Chondrodysplasia-disorder of sex development syndrome
Maroteaux-Stanescu-Cousin syndrome
Lethal recessive chondrodysplasia is an extremely rare lethal form of chondrodysplasia characterized by severe micromelic dwarfism, short and incurved limbs with normal hands and feet, facial dysmorphism (disproportionately large skull, frontal prominence, slightly flattened nasal bridge and short neck), muscular hypotonia, hyperlaxity of the extremities, and a narrow thorax. Most patients die of respiratory distress during the first hours or weeks of life. There have been no further descriptions in the literature since 1988.
Lethal recessive chondrodysplasia
DBQD
Desbuquois dysplasia
Desbuquois syndrome (DBQD) is an osteochondrodysplasia characterized by severe micromelic dwarfism, facial dysmorphism, joint laxity with multiple dislocations, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification. Two forms have been distinguished on the basis of the presence (type 1) or the absence (type 2) of characteristic hand anomalies. A variant form of DBQD, Kim variant (see these terms), has also been described and is characterized by short stature and articular, minor facial and significant hand anomalies.
Desbuquois syndrome
HEM dysplasia
Hydrops-ectopic calcification-motheaten syndrome
Skeletal dysplasia, Greenberg type
lethality and affected fetuses are considered as nonviable.
Greenberg dysplasia
OSMED
Otospondylomegaepiphyseal dysplasia (OSMED) is an inborn error of cartilage collagen formation characterized by sensorineural hearing loss, enlarged epiphyses, skeletal dysplasia with disproportionately short limbs, vertebral body anomalies and a characteristic facies.
Otospondylomegaepiphyseal dysplasia
Familial chondromalacia patellae is an extremely rare, inherited patellar dysostosis disorder characterized by chondromalacia of the patella associated with patellar pain and dislocation (distal displacement) upon knee extension. Male-to-male transmission is reported. There have been no further descriptions in the literature since 1963.
Familial chondromalacia patellae
BHC
Benign familial chorea
Benign hereditary chorea
Parathyroid carcinoma (PRTC) is a very rare, slow-growing, clinically serious endocrine tumor that generally develops in mid-adulthood. PRTC presents as a palpable painless mass in the neck and causes severe hypercalcemia and related symptoms, non-specific gastrointestinal manifestations, as well as renal and bone complications related to primary hyperparathyroidism (nephrolithiasis, impaired renal function, osteoporosis, bone pain, and pathologic fractures, etc.). Some PRTCs are however non-functioning tumors.
Parathyroid carcinoma
Paroxysmal choreoathetosis
Paroxysmal dystonic choreoathetosis
Paroxysmal dyskinesia (PD) is a rare heterogenous group of movement disorders manifesting as abnormal involuntary movements that recur episodically and last only a brief time. PD includes paroxysmal kinesigenic dyskinesia (PKD), paroxysmal non-kinesigenic dyskinesia (PNKD), paroxysmal exertion-induced dyskinesia (PED) and a variant form of PKD, infantile convulsion and choreoathetosis (ICCA syndrome) (see these terms).
Paroxysmal dyskinesia
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_2526 with label: Microcephaly-lymphedema-chorioretinopathy syndrome
Autosomal dominant chorioretinopathy-microcephaly syndrome
Moloney syndrome
Regional choroidal atrophy and alopecia
Choroidal atrophy - alopecia is a very rare ectodermal dysplasia syndrome, characterized by the association of choroidal atrophy (sometimes regional), together with other ectodermal dysplasia features including fine and sparse hair, absent or decreased lashes and eyebrows, and possibly mild visual loss and dysplastic/thick/grooved nails.
Choroidal atrophy-alopecia syndrome
CHM-hypopituitarism syndrome
Choroideremia-hypopituitarism syndrome
Ayazi syndrome
Choroideremia-deafness-obesity syndrome is an X-linked retinal dystrophy characterized by choroideremia, causing in affected males progressive nyctalopia and eventual central blindness. Obesity, moderate intellectual disability and congenital mixed (sensorineural and conductive) deafness are also observed. Female carriers show typical retinal changes indicative of the choroideremia carrier state.
Choroideremia-deafness-obesity syndrome
Christian syndrome
Skeletal dysplasia-intellectual disability syndrome combines skeletal anomalies (short stature, ridging of the metopic suture, fusion of cervical vertebrae, thoracic hemivertebrae, scoliosis, sacral hypoplasia and short middle phalanges) and mild intellectual deficit. It has been described in four male cousins in three sibships. Glucose intolerance was present in three cases, and imperforated anus in one case. Carrier females had minor manifestations (fusion of cervical vertebrae and glucose intolerance). Transmission seems to be X-linked.
X-linked skeletal dysplasia-intellectual disability syndrome
Ring 1
Ring chromosome 1
r(1) syndrome
Ring chromosome 1 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including significant intrauterine and postnatal growth failure, developmental delay, intellectual disability, microcephaly, and dysmorphic facial features. Some less frequent clinical features are dysgenesis of corpus callosum, atrial septal defect, rocker bottom feet and clinodactyly.
Ring chromosome 1 syndrome
Ring 10
Ring chromosome 10
Ring chromosome 10 syndrome is characterized by intellectual deficit, growth retardation, and various dysmorphic features. Less than 20 cases have been described. The main features are low birth weight, microcephaly, stubby nose with a prominent nasal bridge, hypertelorism, strabismus, wide-set nipples, single transverse palmar creases, and clinodactyly. Boys have undescended testes and hypoplastic scrotum. Congenital heart disease, hydronephrosis or renal hypoplasia was present in some of the cases.
Ring chromosome 10 syndrome
Ring 12
Ring chromosome 12
Ring chromosome 12 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype principally characterized by postnatal growth retardation, variable degrees of developmental delay and intellectual disability, microcephaly and facial dysmorphism (incl. epicanthal folds, low-set, cupped ears, prominent nose with flat nasal bridge, high arched palate, micrognathia). Skeletal abnormalities (e.g. pectus excavatum, clinodactyly), congenital heart malformations, cryptorchidism, café-au-lait spots and epilepsy have also been reported.
Ring chromosome 12 syndrome
Lynch syndrome
Ring 14
Ring chromosome 14
Ring chromosome 14 syndrome is characterized by intellectual deficit, retinal and skin pigmentation disorders, seizures, and dysmorphic features, including flat occiput, epicanthal folds, downward slanting eyes, flat nasal bridge, upturned nostrils, short neck, and large low set ears.
Ring chromosome 14 syndrome
Ring 17
Ring chromosome 17
Ring chromosome 17 syndrome is a rare chromosomal anomaly syndrome, resulting from partial deletion of chromosome 17, characterized by highly variable manifestations, ranging from a severe phenotype which presents with lissencephaly and severe intellectual disability to a milder phenotype that includes short stature, microcephaly, intellectual disability, seizures (that may be pharmacoresistant), café-au-lait spots, retinal flecks and minor facial dysmorphism, depending on the presence or absence of the Miller-Dieker critical region.
Ring chromosome 17 syndrome
Ring 18
Ring chromosome 18
Ring chromosome 18 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including hypotonia, neonatal feeding and respiratory difficulties, microcephaly, global developmental delay and intellectual disability, growth hormone deficiency, hypothyroidism, hearing loss, aural atresia, dysmorphic facial features and behavioral characteristics.
Ring chromosome 18 syndrome
Ring 19
Ring chromosome 19
Ring chromosome 19 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype that may range from normal to patients with profound intellectual disability, developmental delay, learning disability (esp. speech) and mild dysmorphism (incl. micro/macrocephaly, prominent forehead, low-set and posteriorly rotated ears, hypertelorism, high nasal bridge, prominent philtrum, retro/micrognathia). Mild hypotonia and autistic-like mannerisms (e.g. hand opening and closing, head banging) may also be associated. Other anomalies, such as cutis laxa, hearing loss, syndactyly, digital hypoplasia, and talipes equinovarus, have also been reported.
Ring chromosome 19 syndrome
Ring 20
Ring chromosome 20
Ring chromosome 20 syndrome is marked by a characteristic seizure phenotype. Depending on the amount of chromosomal loss and associated mosaicism, ring(20) can be associated with macrocephaly, mild to moderate intellectual deficit, or behavioural problems. In rare cases, brain, kidney or heart malformations may be present.
Ring chromosome 20 syndrome
Chromosome 21 en anneau
Ring 21
Ring chromosome 21
Ring chromosome 21 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including growth retardation, developmental delay, intellectual disability, epilepsy, microcephaly, short stature, dysmorphic features, hypogammaglobulinemia, thrombocytopenia and unspecific skeletal anomalies (hemivertebrae, clinodactyly, syndactyly). In rare cases, it has been described in phenotypically normal individuals.
Ring chromosome 21 syndrome
Ring 22
Ring chromosome 22
r(22) syndrome
Ring chromosome 22 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including global developmental delay, hypotonia, growth retardation with microcephaly, intellectual disability with severe speech delay, seizures or abnormal EEG, autistic spectrum disorder and other behavioral characteristics.
Ring chromosome 22 syndrome
Ring 4
Ring chromosome 4
Syndrome r(4)
r(4) syndrome
Ring chromosome 4 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including significant intrauterine and postnatal growth retardation, developmental delay, intellectual disability, microcephaly, and dysmorphic facial features. Some less frequent features are cleft lip and/or cleft palate, congenital cardiovascular, gastrointestinal and genitourinary system anomalies.
Ring chromosome 4 syndrome
Ring 6
Ring chromosome 6
Ring chromosome 6 syndrome is a rare chromosomal anomaly syndrome with highly variable phenotype principally characterized by prenatal/postnatal growth failure, intellectual disability, developmental delay, craniofacial dysmorphism (incl. microcephaly, microphthalmia, epicanthus, low-set and malformed ears, broad and flat nasal bridge, full lips, micrognathia), central nervous system anomalies (e.g. hydrocephalus, cortical atrophy, ventriculomegaly), short neck, and delayed bone age. Cardiac defects, limb anomalies, hip joint malformations, and seizures have also been reported.
Ring chromosome 6 syndrome
Ring 7
Ring chromosome 7
Ring chromosome 7 syndrome is a rare chromosomal anomaly syndrome, with highly variable phenotype, principally characterized by growth failure, short stature, intellectual disability, dermatological abnormalities (nevus flammeus, dark pigmented nevi, café-au-lait spots), microcephaly and facial dysmorphism (incl. facial asymmetry, small ears, abnormal palpebral fissures, ptosis, epicanthic folds, hyper/hypotelorism). Additional reported features include convulsions, cleft lip and palate, clinodactyly, kyphoscoliosis and genital anomalies (i.e. cryptorchidism, hypospadias, micropenis).
Ring chromosome 7 syndrome
Breast cancer (BC) is the most common cancer in women, accounting for 25% of all new cases of cancer. Most BC cases are sporadic, while 5-10% are estimated to be due to an inherited predisposition.
Hereditary breast and ovarian cancer syndrome
Ring 8
Ring chromosome 8
r(8) syndrome
Chromosome 8-derived supernumerary ring/marker is a rare chromosomal anomaly comprising variable parts of chromosome 8. The phenotype of mosaic or non-mosaic supernumerary r(8)/mar(8) ranges from almost normal to variable degrees of minor abnormalities, and growth and mental retardation overlapping with the well-known mosaic trisomy 8 syndrome (see this term).
Ring chromosome 8 syndrome
Chronic infantile neurological cutaneous articular syndrome
IOMID syndrome
Infantile-onset multisystem inflammatory disease
NOMID syndrome
Neonatal-onset multisystem inflammatory disease
Prieur-Griscelli syndrome
Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is characterised by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural hearing loss and ocular signs.
CINCA syndrome
Cleidocranial dysostosis
Cleidocranial dysplasia (CCD) is a rare genetic developmental abnormality of bone characterized by hypoplastic or aplastic clavicles, persistence of wide-open fontanels and sutures and multiple dental abnormalities.
Cleidocranial dysplasia
Rhizomelic shortness with clavicular defect
Wallis-Zieff-Goldblatt syndrome
Cleidorhizomelic syndrome is a rhizo-mesomelic dysplasia characterized by rhizomelic short stature/dwarfism in combination with lateral clavicular defects. Additional manifestations include brachydactyly with bilateral clinodactyly and hypoplastic middle phalanx of the fifth digit. X-ray demonstrated an apparent Y-shaped or bifid distal clavicle. Cleidorhizomelic syndrome has been reported in one family (mother and son) and is suspected to be transmitted in an autosomal dominant manner. There have been no further descriptions in the literature since 1988.
Cleidorhizomelic syndrome
COACH syndrome
Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis
Gentile syndrome
JS-H
Joubert syndrome with congenital hepatic fibrosis
Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
Joubert syndrome with hepatic defect
A number of families have been described, where several members were affected with coarctation of aorta. In a systematic study of coarctation, familial aggregation was considered as result of multifactorial inheritance and recurrence risks in sibs was evaluated at about 0.5% for coarctation and 1.0% for any form of congenital heart defect. Nevertheless, in some of the described families, aortic coarctations seems to be inherited as an autosomal dominant mutation.
Autosomal dominant coarctation of aorta
Coarctation of the abdominal aorta
Mid-aortic dysplastic syndrome
Mid-aortic syndrome
Midaortic syndrome
Middle aortic syndrome
Middle aortic coarctation is a rare vascular anomaly characterized by the segmental narrowing of the abdominal and/or distal descending thoracic aorta with varying involvement of the visceral and renal arteries that commonly presents in children and young adults with early onset and refractory hypertension, abdominal angina, lower-limb claudication and that can lead to life-threatening complications associated with severe hypertension (i.e. myocardial infarction, heart failure, aortic rupture, renal insufficiency and intracranial hemorrhage). It may be due to various congenital or acquired causes, but it is most often secondary to an acquired inflammatory disease (i.e. Takayasu arteritis or giant cell arteritis; see these terms).
Atypical coarctation of aorta
Aorta coarctation
Cerebrooculodentoauriculoskeletal syndrome
Codas syndrome is a multiple congenital anomalies syndrome characterized by Cerebral, Ocular, Dental, Auricular and Skeletal anomalies.
CODAS syndrome
CEC
Celiac disease, epilepsy and cerebral calcification syndrome (CEC) is a rare disorder characterized by the combination of auto-immune intestinal disease, epileptic seizures and cerebral calcifications.
Celiac disease-epilepsy-cerebral calcification syndrome
Papillary or follicular thyroid carcinoma
Well-differentiated thyroid carcinoma
Differentiated thyroid carcinoma (DTC), also known as papillary or follicular thyroid carcinoma, is a slow-growing malignancy usually presenting in adults as an asymptomatic thyroid mass.
Differentiated thyroid carcinoma
Isolated CoQ-cytochrome C reductase deficiency
Isolated coenzyme Q-cytochrome C reductase deficiency
Isolated mitochondrial respiratory chain complex III deficiency
Isolated ubiquinone-cytochrome C reductase deficiency
Isolated complex III deficiency is a rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by a wide spectrum of clinical manifestations ranging from isolated myopathy or transient hepatopathy to severe multisystem disorder (that may include hypotonia, failure to thrive, psychomotor delay, cardiomyopathy, encephalopathy, renal tubulopathy, hearing impairment, lactic acidosis, hypoglycemia and other signs and symptoms).
Isolated complex III deficiency
Criss-cross atrioventricular relationships
Superoinferior ventricles
Twisted atrioventricular connections
Criss cross heart (CCH) is a cardiac malformation where the inflow streams of the two ventricles cross due to twisting of the heart about its major axis. The clinical features depend on the particular cardiac defects associated, like simple or corrected transposition of the great arteries and ventricular septal defects.
Criss-cross heart
Cor triatriatum
Triatrial heart
Double inlet left ventricle
Univentricular heart (UVH) is a severe congenital cardiac malformation characterized by both atria related entirely or almost entirely to one functionally single ventricular chamber. The clinical manifestations include congestive heart failure, failure to thrive, cyanosis, hypoxemia and neurodevelopmental disabilities.
Univentricular heart
CSS
Coffin-Siris syndrome (CSS) is a rare congenital multi-systemic genetic disorder characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, intellectual disability, coarse facial features, and other variable clinical manifestations.
Coffin-Siris syndrome
Cerebrooculofacioskeletal syndrome
Pena-Shokeir syndrome type 2
Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement.
COFS syndrome
Cogan syndrome (CS) is a rare autoimmune disorder of unknown origin characterized by inflammatory ocular disease (mainly interstitial keratitis) and vestibulo-auditory manifestations (mainly acute onset hearing loss, tinnitus and vertigo), in the setting of a negative work-up for syphilis, with a variable risk of developing into a systemic disease. Systemic manifestations may occur in more than 70% of cases.
Cogan syndrome
CPS1 deficiency
CPS1D
Carbamoyl-phosphate synthetase I deficiency
Carbamoyl-phosphate synthetase deficiency
Carbamoyl-phosphate synthetase 1 deficiency (CPS1D) is a rare and severe disorder of urea cycle metabolism most commonly characterized by either a neonatal-onset of severe hyperammonemia that occurs few days after birth and manifests with lethargy, vomiting, hypothermia, seizures, coma and death or a presentation outside the newborn period at any age with (sometimes) milder symptoms of hyperammonemia.
Carbamoyl-phosphate synthetase 1 deficiency
Sorsby syndrome
Coloboma of macula - brachydactyly type B or Sorsby syndrome is a malformation syndrome characterized by the combination of bilateral coloboma of macula with horizontal pendular nystagmus and severe visual loss, and brachydactyly type B (see these terms). The hand and feet defects comprise shortening of the middle and terminal phalanges of the second to fifth digits, hypoplastic or absent nails (congenital anonychia; see this term), broad or bifid thumbs and halluces, syndactyly and flexion deformities of the joints of some digits. Coloboma of macula - brachydactyly type B is inherited in a dominant manner.
Coloboma of macula-brachydactyly type B syndrome
Uveal coloboma-cleft lip and palate-intellectual disability is characterised by coloboma of the iris, bilateral cleft lip and palate, and intellectual deficiency of varying degree. A wide variability in clinical expression is observed. Some patients also present with microphthalmia, cataract, glaucoma, ptosis, sensorineural hearing loss and haematuria. To date, 12 cases have been described from three generations of a single family. Transmission is autosomal dominant.
Uveal coloboma-cleft lip and palate-intellectual disability
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_138 with label: CHARGE syndrome
Colobomatous-microphthalmia-heart disease-hearing loss syndrome
Coloboma of optic nerve with renal disease
Papillo-renal syndrome
Renal coloboma syndrome (RCS) is a genetic condition characterized by optic nerve dysplasia and renal hypodysplasia.
Renal coloboma syndrome
ASD
Atrial septal defect
Interauricular communication
Interauricular communication is a congenital malformation characterized by a communication between the atrial chambers of the heart.
Interatrial communication
Atrial septal defect (ASD) with atrioventricular conduction defects is an extremely rare genetic congenital heart disease characterized by the presence of ASD, mostly of the ostium secundum type (see this term), associated with conduction anomalies like atrioventricular block, atrial fibrillation or right bundle branch block.
Atrial septal defect-atrioventricular conduction defects syndrome
Multiple carboxylase deficiency (MCD) is a term used to describe inborn errors of biotin metabolism characterized by reduced activities of biotin-dependent enzymes resulting in a wide spectrum of symptoms, including feeding difficulty, breathing difficulties, lethargy, seizures, skin rash, alopecia, and developmental delay.
Multiple carboxylase deficiency
Gonococcal conjunctivitis
Ladda-Zonana-Ramer syndrome
Contractures - ectodermal dysplasia - cleft lip/palate is an ectodermal dyplasia syndrome characterized by severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia manifestations include sparse, brittle and hypopigmented hair, xerosis, multiple nevi, small conical shaped teeth and hypodontia, and facial dysmorphism with blepharophimosis, deep-set eyes and micrognathia.
Contractures-ectodermal dysplasia-cleft lip/palate syndrome
Johnston-Aarons-Schelley syndrome
Arthrogryposis-hyperkeratosis syndrome, lethal form is an arthrogryposis syndrome, described in two siblings to date, characterized by the association of multiple congenital joint contractures (of the large joints, fingers and toes) and hyperkeratosis (i.e. thick, scaling and fissured skin), with death occurring in early infancy. There have been no further reports in the literature since 1993.
Arthrogryposis-hyperkeratosis syndrome, lethal form
Herva disease
LCCS1
Multiple contracture syndrome, Finnish type
Lethal congenital contracture syndrome type 1 is a rare, genetic arthrogryposis syndrome characterized by total fetal akinesia (detectable since the 13th week of gestation) accompanied by hydrops, micrognathia, pulmonary hypoplasia, pterygia and multiple joint contractures (usually flexion contractures in the elbows and extension in the knees), leading invariably to death before the 32nd week of gestation. Lack of anterior horn motoneurons, severe atrophy of the ventral spinal cord and severe skeletal muscle hypoplasia are characteristic neuropathological findings, with no evidence of other organ structural anomalies.
Lethal congenital contracture syndrome type 1
Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges syndrome
ODP
Cooks syndrome is a malformation syndrome affecting the apical structures of digits and presenting with hypo/aplasia of nails and distal phalanges. More than half of digits are usually involved and the thumbs may appear digitalized.
Cooks syndrome
Aural atresia-multiple congenital anomalies-intellectual disability syndrome
Cooper-Wang-Jabs syndrome is a multiple malformation syndrome characterized by atresia of the auditory canal together with ventricular septal defect, anteriorly displaced anus, mild clubfoot, and intellectual deficit. It has been described only once, in two sisters. The mode of inheritance is most likely autosomal recessive.
Cooper-Jabs syndrome
Pertussis
Whooping cough
CDPD
Corneal dystrophy with progressive deafness
Harboyan syndrome
Corneal dystrophy-perceptive deafness (CDPD) or Harboyan syndrome is a degenerative corneal disorder characterized by the association of congenital hereditary endothelial dystrophy (CHED; see this term) with progressive, postlingual sensorineural hearing loss.
Corneal dystrophy-perceptive deafness syndrome
use http://www.orpha.net/ORDO/Orphanet_102283 with label: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
OBSOLETE: Corpus callosum agenesis-double urinary collecting system-trigonocephaly syndrome
Corpus callosum agenesis-cataract-immunodeficiency syndrome
Dionisi-Vici-Sabetta-Gambarara syndrome
Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency.
Vici syndrome
Da Silva syndrome
Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome is characterised by a hypoplastic corpus callosum, microcephaly, severe intellectual deficit, preauricular skin tags, camptodactyly, growth retardation, and recurrent bronchopneumonia. It has been described in four patients in two families. Transmission is autosomal recessive.
Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome
Andermann syndrome
Charlevoix disease
Corpus callosum agenesis-neuronopathy syndrome is a neurodegenerative disorder characterized by severe progressive sensorimotor neuropathy beginning in infancy with resulting hypotonia, areflexia, amyotrophy and variable degrees of dysgenesis of the corpus callosum. Additional features include mild-to-severe intellectual and developmental delays, and psychiatric manifestations that include paranoid delusions, depression, hallucinations, and "autistic-like" features. Affected individuals are usually wheelchair restricted in the second decade of life and die in the third decade of life. The disease is inherited as an autosomal recessive trait.
Corpus callosum agenesis-neuronopathy syndrome
X-linked complicated corpus callosum dysgenesis is a historical term used to describe a phenotype now considered to be part of the L1 clinical spectrum (L1 syndrome, see this term). The disorder is characterized by variable spastic paraplegia, mild to moderate intellectual deficit, and dysplasia, hypoplasia or aplasia of the corpus callosum.
X-linked complicated corpus callosum dysgenesis
OBSOLETE: Cortada-Koussef-Matsumoto syndrome
Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia.
Achondroplasia
Squamous cell carcinoma of the nasopharynx
Nasopharyngeal carcinoma (NPC) is a tumor arising from the epithelial cells that cover the surface and line the nasopharynx.
Nasopharyngeal carcinoma
Adrenocortical carcinoma (ACC) is a cancer that arises from the adrenal cortex.
Adrenocortical carcinoma
Short rib-polydactyly syndromes are a group of bone malformations characterized by a narrow thorax and polydactyly (usually preaxial).
Short rib-polydactyly syndrome
Sharma-Kapoor-Ramji syndrome
Thin ribs-tubular bones-dysmorphism syndrome is an extremely rare, lethal, primary bone dysplasia characterized by thin ribs, thin long bones, high-arched palate and facial features of frontal bossing and low-set, posteriorly rotated ears. Bilateral cryptorchidism may be also observed. There have been no further descriptions in the literature since 1990.
Thin ribs-tubular bones-dysmorphism syndrome
COVESDEM syndrome
Costovertebral segmentation defect-mesomelia syndrome
RRS
Autosomal recessive Robinow syndrome (RRS) is the less common type of Robinow syndrome (RS, see this term) characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia.
Autosomal recessive Robinow syndrome
Coxoauricular syndrome is an extremely rare primary bone defect, described only in a mother and her three daughters to date, characterized by short stature, hip dislocation, minor vertebral and pelvic changes, and microtia with hearing loss. There have been no further descriptions in the literature since 1981.
Coxoauricular syndrome
Ischiopatellar dysplasia
SPS
Scott-Taor syndrome
Small patella syndrome
Small patella syndrome (SPS) is a very rare benign bone dysplasia affecting skeletal structures of the lower limb and the pelvis.
Coxopodopatellar syndrome
use http://www.orpha.net/ORDO/Orphanet_47044 with label: Hereditary papillary renal cell carcinoma
Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles.
Crane-Heise syndrome
Craniodiaphyseal dysplasia is a rare sclerotic bone disorder with a variable phenotypic expression with massive generalized hyperostosis and sclerosis, particularly of the skull and facial bones, that may lead to severe deformity.
Craniodiaphyseal dysplasia
Scott craniodigital syndrome
Scott-Bryant-Graham syndrome
Craniodigital syndrome - intellectual deficit is characterised by syndactyly of the fingers and toes, characteristic facies (`startled' facial expression with a small pointed nose, micrognathia, long dark eyelashes and prominent eyebrows) and intellectual deficit.
Craniodigital-intellectual disability syndrome
Sensenbrenner syndrome
Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa).
Cranioectodermal dysplasia
Craniofacial dyssynostosis (CFD) is a rare cranial malformation syndrome characterized by the premature closure of both lambdoid sutures and the posterior sagittal suture, resulting in abnormal skull contour (frontal bossing, anterior turricephaly with mild brachycephaly, biparietal narrowing, occipital concavity) and dysmorphic facial features (low-set ears, midfacial hypoplasia). Short stature, developmental delay, epilepsy, and oculomotor dyspraxia have also been reported. Associated anomalies include enlargement of the cerebral ventricles, agenesis of the corpus callosum, Arnold-Chiari malformation type I (see this term), venous anomalies of skull and hydrocephalus.
Craniofacial dyssynostosis
Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism.
Hypertrichotic osteochondrodysplasia, Cantu type
Brachycephalofrontonasal dysplasia
Craniofrontonasal dysplasia, Teebi type
Teebi hypertelorism syndrome
Teebi syndrome
Teebi type hypertelorism is a rare genetic disease characterized by hypertelorism with facial features that can closely resemble craniofrontonasal dysplasia (see this term), such as prominent forehead, widow's peak, heavy and broad eyebrows, long palpebral fissures, ptosis, high and broad nasal bridge, short nose, low-set ears, natal teeth, thin upper lip and a grooved chin, as well as limb (i.e. fifth-finger clinodactyly, pes adductus, mild interdigital webbing), urogenital (i.e. bilateral cryptorchidism and shawl scrotum in males) and umbilical (i.e. hernia/small omphalocele) anomalies and cardiac (i.e. ventricular or atrial septal defect, patent ductus arteriosus) defects. Additional findings such as polycystic kidneys and iridochorioretinal colobomas have also been reported and psychomotor development is normal. The facial features can also resemble Aarskog and Opitz G/BBB syndromes (see these terms).
Hypertelorism, Teebi type
CFND
CFNS
Craniofrontonasal syndrome
Craniofrontonasal dysplasia is an X-linked malformation syndrome characterized by facial asymmetry (particularly orbital), body asymmetry, midline defects (hypertelorism, frontal bossing, broad grooved or bifid nasal tip, cleft lip and/or palate, high arched palate), skeletal anomalies (clavicle pseudoarthrosis, coronal craniosynostosis, various digital and limb anomalies including syndactyly, clinodactyly of the 5th finger, broad thumbs) and ectodermal dysplasias (dental anomalies, grooved nails, wiry hair). Contrary to most X-linked disorders, females are much more severely affected whereas males are asymptomatic or present with a mild phenotype, frequently only displaying hypertelorism.
Craniofrontonasal dysplasia
Webster-Deming syndrome
Cranio-fronto-nasal dysplasia - Poland anomaly is a polymalformative syndrome characterised by craniosynostosis, Poland anomaly (see this term), cranio-fronto-nasal dysplasia, and genital and breast anomalies. Less than ten cases have been described so far.
Craniofrontonasal dysplasia-Poland anomaly syndrome
Craniometaphyseal dysplasia (CMD) is a very rare genetic bone disease characterized by progressive diffuse hyperostosis of cranial bones causing facial dysmorphism and functional repercussions, and metaphyseal widening of long bones.
Craniometaphyseal dysplasia
Craniomicromelic syndrome is a very rare disorder characterized by intrauterine growth retardation, underossification of the skull with large fontanels, short limbs with absent phalanges and finger and toe syndactyly.
Craniomicromelic syndrome
Currarino disease
Currarino idiopathic osteoarthropathy
Reginato-Schiapachasse syndrome
Cranio-osteoarthropathy (COA) is a form of primary hypertrophic osteoarthropathy (see this term) characterized by delayed closure of the cranial sutures and fontanels, digital clubbing, arthropathy, and periostosis.
Cranio-osteoarthropathy
OBSOLETE: Craniosynostosis-synostoses-hypertensive nephropathy syndrome
Craniosynostosis, Philadelphia type is a form of syndromic craniosynostosis, characterized by sagittal/dolichocephalic head shape with a relatively normal facial appearance and complete soft tissue syndactyly of hand and foot. Transmission is autosomal dominant with variable expression of the hand findings, and incomplete penetrance of the sagittal craniosynostosis. Craniosynostosis, Philadelphia type has been suggested to share the same etiology as syndactyly type 1A.
Craniosynostosis, Philadelphia type
Craniotelencephalic dysplasia is an extremely rare, genetic developmental defect during embryogenesis syndrome characterized by craniosynostosis with frontal encephalocele and various additional brain anomalies (severe hydrocephalus, agenesis of the corpus callosum, lissencephaly and polymicrogyria, parenchymal cysts, septo-optic dysplasia) resulting in marked cerebral dysfunction, seizures and very severe psychomotor delay. There have been no further descriptions in the literature since 1983.
Craniotelencephalic dysplasia
CDHS
Sommer-Young-Wee-Frye syndrome
Craniofacial-deafness-hand syndrome (CDHS) is an autosomal dominant disorder, described in one family to date, characterized by characteristic facial features (flat facial profile with normal calvarium, hypertelorism, small downslanting palpebral fissures, hypoplastic nose with button tip and slitlike nares, small ''pursed'' mouth), profound sensorineural deafness, and ulnar deviations and contractures of the hand. CDHS is thought to be an allelic variant of Waardenburg syndrome (see this term) that can be distinguished from the latter by its imaging findings and distinct facial features.
Craniofacial-deafness-hand syndrome
Craniosynostosis-cataract syndrome
Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome.
Craniosynostosis
Cerebellotrigeminal-dermal dysplasia syndrome
Craniosynostosis-alopecia-brain defect syndrome
Lopez-Hernandez syndrome, which may be classified among the neurocutaneous syndromes, associates abnormalities of the cerebellum (rhombencephalosynapsis), cranial nerves (trigeminal anesthesia), and scalp (alopecia). It has been reported in 11 individuals so far. Other features observed in patients were craniosynostosis, midfacial hypoplasia, bilateral corneal opacities, low-set ears, short stature, moderate intellectual impairment and ataxia. Hyperactivity, depression, self-injurious behaviour and bipolar disorder have also been reported.
Gómez-López-Hernández syndrome
Lowry syndrome
Craniosynostosis-fibular aplasia syndrome is an extremely rare genetic disease, reported in only 2 brothers to date, characterized by the combination of craniosynostosis (involving both coronal sutures), congenital absence of the fibula, cryptorchidism, and bilateral simian creases. Intelligence is normal and an autosomal recessive mode of inheritance has been proposed. There have been no further reports in the literature since 1972.
Craniosynostosis-fibular aplasia syndrome
use http://www.orpha.net/ORDO/Orphanet_139393 with label: Syndromic craniosynostosis
OBSOLETE: Craniosynostosis-radial aplasia, Imaizumi type
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_53271 with label: Muenke syndrome
Craniosynostosis-dysmorphism-brachydactyly syndrome
Braddock-Jones-Superneau syndrome
Craniosynostosis, Dandy-Walker malformation and hydrocephalus is a malformation disorder characterized by sagittal craniosynostosis (see this term), Dandy-Walker malformation, hydrocephalus, craniofacial dysmorphism (including dolichocephaly, hypertelorism, micrognathia, positional ear deformity) and variable developmental delay. The inheritance pattern appears to be autosomal dominant.
Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome
Familial or idiopathic dilated cardiomyopathy
Familial isolated dilated cardiomyopathy is a rare, genetically heterogeneous cardiac disease characterized by dilatation leading to systolic and diastolic dysfunction of the left and/or right ventricles, causing heart failure or arrhythmia.
Familial isolated dilated cardiomyopathy
Craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome
JWS
Jackson-Weiss syndrome (JWS) is a rare genetic disorder characterized by foot malformations (tarsal and metatarsal fusions; short, broad, medially deviated great toes) and in some patients craniosynostosis with facial anomalies. Hands are normal in affected patients.
Jackson-Weiss syndrome
Craniosynostosis, Warman type
Warman-Mulliken-Hayward syndrome
Craniosynostosis, Boston type is a form of syndromic craniosynostosis, characterized by a highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly. Hypoplasia of the supraorbital ridges, cleft palate, extra teeth and limb anomalies (triphalangeal thumb, 3-4 syndactyly of the hands, a short first metatarsal, middle phalangeal agenesis in the feet) have also been described. Associated problems include headache, poor vision, and seizures. Intelligence is normal.
Craniosynostosis, Boston type
Adolescent benign focal crisis
Benign focal seizures of adolescence
Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly.
Crisponi syndrome
Cryptococcosis
Cryptomicrotia-brachydactyly syndrome
Tonoki-Ohura-Niikawa syndrome
Cryptomicrotia - brachydactyly - excess fingertip arch syndrome describes a combination of malformations that include bilateral cryptomicrotia, brachytelomesophalangy with short middle and distal phalanges of digits 2 through 5, hypoplastic toenails and excess fingertip arch patterns, and has been reported in one family (mother and son). Cryptomicrotia - brachydactyly - excess fingertip arch syndrome is thought to follow an autosomal dominant transmission. There have been no further descriptions in the literature since 1988.
Cryptomicrotia-brachydactyly-excess fingertip arch syndrome
Van Benthem-Driessen-Hanveld syndrome
Cryptorchidism-arachnodactyly-intellectual disability syndrome is a rare, multiple congenital anomalies syndrome characterized by psychomotor delay, severe intellectual deficit, severe muscle hypoplasia (with absence of subcutaneous fatty tissue), generalized contractures, craniofacial dysmorphic features (dolichocephaly, esotropia, ears of unequal size, high palate), chest and spinal deformities (i.e. sternum shifted to side, kyphoscoliosis), pulmonary anomalies (unilateral hypoplastic bronchial system), arachnodactyly, and genital abnormalities (cryptorchidism, hypospadias, testicular agenesis). Repeated respiratory tract infections and atelectasis are also associated. There have been no further descriptions in the literature since 1970.
Cryptorchidism-arachnodactyly-intellectual disability syndrome
, that colonize the intestinal epithelial cells of humans and of a wide variety of animals.
Cryptosporidiosis
Familial benign hypocupremia
Familial benign copper deficiency is a rare disorder of mineral absorption and transport characterized by hypocupremia that manifests as failure to thrive, mild anemia, repeated seizures, hypotonia, and seborrheic skin. Spurring of the femur and tibia are also noted on radiographic imaging. Symptoms are reversible or improve with supplements of oral copper. There have been no further descriptions in the literature since 1988.
Familial benign copper deficiency
Currarino triad
Currarino syndrome (CS) is a rare congenital disease characterized by the triad of anorectal malformations (ARMs) (usually anal stenosis), presacral mass (commonly anterior sacral meningocele (ASM) or teratoma) and sacral anomalies (i.e. total or partial agenesis of the sacrum and coccyx or deformity of the sacral vertebrae).
Currarino syndrome
Corpus callosum agenesis-polysyndactyly syndrome
Curry-Jones syndrome is a form of syndromic craniosynostosis characterized by unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands and/or feet, along with anomalies of the skin (characteristic pearly white areas that become scarred and atrophic, abnormal hair growth around the eyes and/or cheeks, and on the limbs), eyes (iris colobomas, microphthalmia,) and intestine (congenital short gut, malrotation, dysmotility, chronic constipation, bleeding and myofibromas). Developmental delay and variable degrees of intellectual disability may also be observed. Multiple intra-abdominal smooth muscle hamartomas, trichoblastoma of the skin, occipital meningoceles and development of desmoplastic medulloblastoma have been reported.
Curry-Jones syndrome
Beare-Stevenson cutis gyrata syndrome
Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome, also known as Beare-Stevenson syndrome (BSS), is a severe form of syndromic craniosynostosis, characterized by a variable degree of craniosynostosis, with cloverleaf skull reported in over 50% of cases, cutis gyrata, corduroy-like linear striations in the skin, acanthosis nigricans, skin tags, and choanal stenosis or atresia). Additional features include facial features similar to Crouzon disease, ear defects (conductive hearing loss, posteriorly angulated ears, stenotic auditory canals, preauricular furrows, and narrow ear canals), hirsutism, a prominent umbilical stump, and genitorurinary anomalies (anteriorly placed anus, hypoplasic labia, hypospadias). BSS is associated with a poor outcome as patients present an elevated risk for sudden death in their first year of life. Significant developmental delay and intellectual disability are observed in most patients who survive infancy.
Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome
CMTC
Cutis marmorata telangiectatica congenita (CMTC) is a congenital localized or generalized vascular anomaly characterized by a persistent cutis marmorata pattern with a marbled bluish to deep purple appearance, spider nevus-like telangiectasia, phlebectasia and, occasionally, ulceration and atrophy of the affected skin.
Cutis marmorata telangiectatica congenita
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_357225 with label: Primary non-essential cutis verticis gyrata
Cutis verticis gyrata-intellectual disability syndrome
Rare head and neck malformation
Cysts and fistulae of the face and oral cavity
Pinnae fistula or cyst is a rare otorhinolaryngological malformation characterized by the presence of a, usually unilateral, sinus tract or cyst located in the vicinity of the auricle (most frequently identified by a small pit near the anterior margin of the first ascending portion of the helix). Typically, patients are asymptomatic and usually only present symptoms (pain, erythema, discharge from pit) in relation to infection. Renal and inner ear anomalies may be associated.
Pinnae fistula or cyst
Tessier number 1-1 and 2-12 facial cleft
Paramedian facial cleft
Submucosal cleft palate
Superior palpebral coloboma
Coloboma of superior eyelid is a rare developmental defect during embryogenesis characterized by a typically unilateral, partial or full-thickness, variably sized defect of the superior eyelid, ranging from a small notch to complete absence of the entire lid, which is commonly triangular in shape (with base at eyelid margin) and located on the medial third of the lid. It can occur isolated, associated with other anomalies (e.g. ocular/orbital and facial), or as part of a syndrome.
Coloboma of superior eyelid
Inferior palpebral coloboma
Coloboma of inferior eyelid is a rare developmental defect during embryogenesis characterized by a unilateral or bilateral, partial or full-thickness, variably sized defect of the inferior eyelid (ranging from a small notch to complete absence of the entire lid) which is usually triangular in shape (with base at eyelid margin) and located on the lateral third of the lid. It can occur isolated, associated with facial clefting or as part of a syndrome.
Coloboma of inferior eyelid
Otomandibular dysplasia
Bilateral and symmetric oto-mandibular dysplasia
Mandibulofacial dysostosis
CPT1A deficiency
Carnitine palmitoyl transferase IA deficiency
Hepatic carnitine palmitoyl transferase 1 deficiency
Hepatic carnitine palmitoyl transferase I deficiency
L-CPT1 deficiency
L-CPTI deficiency
Carnitine palmitoyltransferase 1A (CPT-1A) deficiency is an inborn error of metabolism that affects mitochondrial oxidation of long chain fatty acids (LCFA) in the liver and kidneys, and is characterized by recurrent attacks of fasting-induced hypoketotic hypoglycemia and risk of liver failure.
Carnitine palmitoyl transferase 1A deficiency
(tapeworm) parasite larvae ingested via the feces of a human with a tapeworm (human-to-human fecal-oral transmission) leading to variable clinical manifestations in muscle, the brain, spinal cord, and eyes. Infection of muscle tissue is generally asymptomatic. Cyst development in the brain and spinal cord is known as neurocysticercosis (NCC) and may cause seizures and headache. NCC can follow a serious course and may be life-threatening. Severe cases of cysticercosis are treated with albendazole and anti-inflammatory drugs.
Cysticercosis
Primary early-onset glaucoma
TTF-1
TTF1
NK2 homeobox 1
Fatal infantile COX deficiency
Fatal infantile cardioencephalomyopathy due to cytochrome C oxidase deficiency
Fatal infantile cytochrome C oxidase deficiency is a very rare mitochondrial disease characterized clinically by cardioencephalomyopathy resulting in death in infancy.
Fatal infantile cytochrome C oxidase deficiency
Predominantly large-vessel vasculitis
Predominantly medium-vessel vasculitis
Predominantly small-vessel vasculitis
Immune complex mediated vasculitis
AAV
ANCA-associated vasculitis
Antineutrophil cytoplasmic antibody-associated vasculitis
Anti-neutrophil cytoplasmic antibody-associated vasculitis
Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy
Pure dystonia
Isolated dystonia
Gunal-Seber-Basaran syndrome
Dacryocystitis - osteopoikilosis is an exceedingly rare autosomal dominant disorder reported in only a few patients to date and is characterized by dacryocystitis due to lacrimal canal stenosis,and osteopoikilosis (demonastratedradiologically as discrete spherical osteosclerotic lesions of 2-10mm in diameter).
Dacryocystitis-osteopoikilosis syndrome
Otomandibular dysplasia associated with monogenic syndromes
Macroglossia
Hypoglossia/aglossia
Oromandibular-limb anomalies syndrome
Paralytic facial malformation
Facial arteriovenous malformation is a rare vascular anomaly characterized by abnormal communication between arteries and veins, bypassing the capillary bed, located in the facial area. Lesions may be asymptomatic or may manifest with pain, ulceration, pulsation, tinnitus, minor bleeding or potentially life-threatening hemorrhage, blurred vision, impaired hearing, headache, paresthesia, enlargement of facial bones with intraosseous lesions, intraosseous hemangiomas, and speech, breathing and swallowing difficulties, as well as neuropathy.
Facial arteriovenous malformation
Syndrome or malformation associated with head and neck malformations
Pinnae and external auditory canal anomaly
Nose and cavum anomaly
Larynx anomaly
Tracheal anomaly
Dahlberg syndrome
Lymphedema-hypoparathyroidism syndrome syndrome
Dahlberg-Borer-Newcomer syndrome is a very rare ectodermal dysplasia syndrome, described in 2 adult brothers, characterized by the association of hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hyperthricoses, and nail abnormalities.
Dahlberg-Borer-Newcomer syndrome
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_42775 with label: PHACE syndrome
Dandy-Walker malformation-facial hemangioma syndrome
Rare syndrome with cardiac malformations
DWM with postaxial polydactyly
Pierquin syndrome
Dandy-Walker malformation with postaxial polydactyly syndrome is a syndromic disorder with, as a major feature, the association between Dandy-Walker malformation and postaxial polydactyly. The Dandy-Walker malformation has a variable expression and is characterized by a posterior fossa cyst communicating with the fourth ventricle, the partial or complete absence of the cerebellar vermis, and facultative hydrocephalus. Postaxial polydactyly includes tetramelic postaxial polydactyly of hands and feet with possible enlargement of the fifth metacarpal and metatarsal bones, as well as bifid fifth metacarpals.
Dandy-Walker malformation-postaxial polydactyly syndrome
Rare genetic hepatic disease
Genetic parenchymatous liver disease
Genetic biliary tract disease
Rare genetic respiratory disease
Rare genetic urogenital disease
Genetic urogenital tract malformation
Genetic hypertension
Rare genetic endocrine disease
Genetic endocrine growth disease
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_1263 with label: Boomerang dysplasia
SEMD, MATN3-related
SEMD, matrilin-3 type
Spondyloepimetaphyseal dysplasia, matrilin-3 type is characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands.
Spondyloepimetaphyseal dysplasia, matrilin-3 type
Dyssegmental dysplasia, Rolland-Desbuquois type
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (XDIBS), or Pettigrew syndrome is a central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation (see this term), and iron deposition.
X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_910 with label: Xeroderma pigmentosum
CPT2
CPTII
Carnitine palmitoyltransferase deficiency type 2
Carnitine palmitoyltransferase II (CPT II) deficiency is an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA). Three forms of CPT II deficiency have been described: a myopathic form, a severe infantile form and a neonatal form (see these terms).
Carnitine palmitoyltransferase II deficiency
De Smet-Fabry-Fryns syndrome
Symbrachydactyly of hands and feet is a rare, non-syndromic limb reduction defect disorder characterized by unilateral or bilateral brachydactyly, cutaneous syndactyly and global hypoplasia of the hand and/or foot, with underlying muscles, tendons, ligaments and bones being affected but without other associated limb anomalies. Patients typically present short, stiff, webbed or missing fingers and/or toes which are often replaced with small stumps (nubbins) with residual nails.
Symbrachydactyly of hands and feet
Knobloch-Layer syndrome
Retinal detachment-occipital encephalocele syndrome
Knobloch syndrome (KS) is defined by vitreoretinal and macular degeneration, and occipital encephalocele.
Knobloch syndrome
CVID
Idiopathic immunoglobulin deficiency
Primary antibody deficiency
Primary hypogammaglobulinemia
Common variable immunodeficiency (CVID) comprises a heterogeneous group of diseases characterized by a significant hypogammaglobulinemia of unknown cause, failure to produce specific antibodies after immunizations and susceptibility to bacterial infections, predominantly caused by encapsulated bacteria.
Common variable immunodeficiency
HHRH
Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia.
Hereditary hypophosphatemic rickets with hypercalciuria
HJMD
Hypotrichosis with juvenile macular dystrophy
Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness.
Hypotrichosis with juvenile macular degeneration
Mackay-Shek-Carr syndrome
Retinal degeneration-nanophthalmos-glaucoma syndrome is characterized by progressive pigmentary retinal degeneration (with nyctalopia and visual field restriction), cystic macular degeneration and angle closure glaucoma. It has been described in seven members of one family. Patients also have hyperopia and nanophthalmos. The mode of transmission is autosomal recessive.
Retinal degeneration-nanophthalmos-glaucoma syndrome
use http://www.orpha.net/ORDO/Orphanet_225154 with label: Familial infantile bilateral striatal necrosis
OBSOLETE: Infantile striatothalamic degeneration
Infantile striatonigral degeneration
Infantile striatonigral necrosis
Infantile bilateral striatal necrosis (IBSN) comprises several syndromes of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis. IBSN can be familial or sporadic (see these terms).
Infantile bilateral striatal necrosis
use http://www.orpha.net/ORDO/Orphanet_1314 with label: Symmetrical thalamic calcifications
OBSOLETE: Infantile thalamic degeneration
Congenital or early infantile CACH syndrome
Late infantile CACH syndrome
Juvenile or adult CACH syndrome
Incomplete situs inversus
Partial situs inversus
Situs ambiguous
Situs ambiguus
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_1299 with label: Branchioskeletogenital syndrome
Hypospadias-hypertelorism-coloboma and deafness syndrome
Epithelioid hemangioendothelioma
HMPS
Hereditary mixed polyposis syndrome (HMPS) describes an autosomal dominantly inherited large-bowel disease characterized by the presence of a mixture of hyperplastic, atypical juvenile and adenomatous polyps that are associated with an increased risk of developing colorectal cancer if left untreated.
Hereditary mixed polyposis syndrome
Serrated polyposis
Hyperplastic polyposis syndrome is a rare, genetic intestinal disease characterized by the presence of multiple (usually large) hyperplastic/serrated colorectal polyps, usually with a pancolonic distribution. Histology reveals hyperplastic polyps, sessile serrated adenomas (most common), traditional serrated adenomas or mixed polyps. It is associated with an increased personal and familial (first-degree relatives) risk of colorectal cancer.
Hyperplastic polyposis syndrome
Hyperphenylalaninemia due to dehydratase deficiency
Hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency
Hyperphenylalaninemia with primapterinuria
Dehydratase deficiency or pterin-4 alpha-carbinolamine dehydratase (PCD) is considered a transient and benign form of hyperphenylalaninemia due to tetrahydrobiopterin deficiency (see this term), characterized by muscular hypotonia, irritability (detected by EEG), slow acquisition of psychomotor skills, age-dependent movement disorders, including dystonia and an accompanying excretion of 7-substituted pterins. Neurological developement is normal with dietary control of blood phenyalanine. PCD is inherited in an autosomal recessive manner.
Pterin-4 alpha-carbinolamine dehydratase deficiency
MSSD
Syndactyly type 9
Syndactyly, Malik-Percin type
Mesoaxial synostotic syndactyly (MSSD) with phalangeal reduction is a novel and distinct form of non-syndromic syndactyly including complete syndactyly of the 3rd and 4th fingers with synostoses of the corresponding metacarpals and associated single phalanges, syndactyly of the 2nd and 3rd toes and 5th finger clinodactyly.
Mesoaxial synostotic syndactyly with phalangeal reduction
Congenital pseudarthrosis of the limbs
Congenital pseudoarthrosis of the limbs is a rare, genetic, non-syndromic limb malformation characterized by delayed union or non-union of a long bone, resulting in formation of a false joint, with abnormal mobility and angulation at the pseudoarthrosis site, which manifests with progressive anterolateral forearm or leg bowing, limb shortening, and non-healing fractures. Typical histopathological findings include fibromatosis-like proliferation in the soft tissues with cystic or dysplastic lesions. Neurofibromatosis and osteofibrous dysplasia are frequently associated.
Congenital pseudoarthrosis of the limbs
Cold-induced sweating syndrome (CISS) is characterized by profuse sweating (involving the chest, face, arms and trunk) induced by cold ambient temperature.
Cold-induced sweating syndrome
Klüver-Bucy syndrome
Congenital gingival cell tumor
Congenital granular cell tumor
Neumann tumor
Congenital epulis
Craniorhiny
Paroxysmal hemicrania (PH) is a primary headache disorder characterized by multiple attacks of unilateral pain that occur in association with cranial autonomic symptoms. The hallmarks of this syndrome are the relative shortness of the attacks and the complete response to indomethacin therapy.
Paroxysmal hemicrania
Trigeminal autonomic cephalalgia
Adult basal ganglia disease
Ferritin-related neurodegeneration
Hereditary ferritinopathy
Neuroferritinopathy is a late-onset type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by progressive chorea or dystonia and subtle cognitive deficits.
Neuroferritinopathy
NBIA1
Neurodegeneration with brain iron accumulation type 1
Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA; see this term), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the central nervous system.
Pantothenate kinase-associated neurodegeneration
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_216866 with label: Classic pantothenate kinase-associated neurodegeneration
Early-onset prion disease with prominent psychiatric features
HDL1
Huntington disease-like 1
HDL3
Huntington disease-like 3 is a rare Huntington disease-like syndrome characterized by childhood-onset progressive neurologic deterioration with pyramidal and extrapyramidal abnormalities, chorea, dystonia, ataxia, gait instability, spasticity, seizures, mutism, and (on brain MRI) progressive frontal cortical atrophy and bilateral caudate atrophy.
Huntington disease-like 3
CID due to RAG 1/2 deficiency
Combined immunodeficiency due to RAG 1/2 deficiency
Combined immunodeficiency with skin granulomas
Alopecia-progressive neurological defect-endocrinopathy syndrome
ANE syndrome is a rare, genetic, neuro-endocrino-cutaneous disorder characterized by highly variable degrees of alopecia, moderate to severe intellectual disability, progressive, late-onset motor deterioration and combined anterior pituitary hormone deficiency, manifesting with central hypogonadotropic hypogonadism, delayed or absent puberty, growth hormone deficiency (resulting in short stature), progressive central adrenal insufficiency and a hypoplastic anterior pituitary gland. Additional features include hypodontia, flexural reticulate hyperpigmentation, gynecomastia, microcephaly and kyphoscoliosis.
ANE syndrome
Oculoauricular syndrome, Schorderet type is a rare, genetic developmental defect during embryogenesis syndrome characterized by various ophthalmic anomalies (including congenital microphthalmia, microcornea, cataract, anterior segment dysgenesis, ocular coloboma and early onset rod-cone dystrophy) and abnormal external ears (low-set pinna with crumpled helix, narrow intertragic incisures, abnormal bridge connecting the crus of the helix and the antihelix, narrow external acoustic meatus, and lobule aplasia).
Oculoauricular syndrome, Schorderet type
EDS, spondylocheirodysplastic type
Ehlers-Danlos syndrome, spondylocheirodysplastic type is a subtype of Ehlers-Danlos syndrome characterized by skeletal dysplasia comprising platyspondyly with moderate short stature, osteopenia and widened metaphyses, in addition to hyperextensible, thin, easily bruised skin, hypermobility of small joints with tendency to contractures, prominent eyes with bluish sclerae, wrinkled palms, atrophy of the thenar muscle and tapering fingers.
Ehlers-Danlos syndrome, spondylocheirodysplastic type
L-CMD
LMNA-related congenital muscular dystrophy
Congenital muscular dystrophy due to LMNA mutation is a rare congenital muscular dystrophy characterized by prominent axial hypotonia, dropped head syndrome, predominantly proximal muscle weakness in upper limbs/distal in lower limbs (with absent, poor or lost motor development), joint contractures (initially distal, later proximal), spine rigidity, and early respiratory insufficiency, in the presence of moderately elevated serum creatine kinase. Cardiac arrhythmias and sudden death have been also reported.
Congenital muscular dystrophy due to LMNA mutation
Non-Langerhans cell histiocytosis
Generalized eruptive histiocytoma
Generalized eruptive histiocytosis
Benign cephalic histiocytosis
CDSP
CUD
Carnitine transporter defect
Carnitine uptake deficiency
Deficiency of plasma-membrane carnitine transporter
SPCD
Systemic primary carnitine deficiency (SPCD) is a potentially lethal disorder of fatty acid oxidation characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma.
Systemic primary carnitine deficiency
Distal 10p deletion
Monosomy 10pter
Telomeric deletion 10p
Distal monosomy 10p is a rare chromosomal disorder in which the tip of the short arm (p arm) of chromosome 10 is deleted resulting in a variable phenotype depending on the size of the deletion. The deletion may involve only the terminal 10p15 band, or extend towards the centromere to bands 10p14 or 10p13.
Distal monosomy 10p
Juvenile xanthogranuloma is the most common type of non-Langerhans cell histiocytosis (see this term) characterized by the occurrence of one or more reddish or yellowish self-limiting and benign papules or nodules of several millimeters in diameter, usually appearing on the head and neck (but sometimes on the extremities and trunk) during the first year of life (or rarely in adulthood) and usually regressing spontaneously. Extracutaneous involvement has also been reported, involving most commonly the eye (uveal tract) but with other locations including the central nervous system, lung, liver, bones and endocrine glands, and may be associated with considerable morbidity.
Juvenile xanthogranuloma
Montgomery syndrome
Xanthoma disseminatum
Papular xanthoma is a form of non-Langerhans cell histiocytosis characterized by cutaneous presentation of solitary or disseminated yellow to orange-brown papular or papulonodular, noncoalescent, asymptomatic skin lesions located predominantly on the head, neck, trunk and extremities (rarely on oral mucosa), in the presence of normolipidemia. Microscopically, the lesions consist of monomorphous infiltrate of xanthomatized macrophages and numerous Touton giant cells, with scant or absent inflammatory infiltrate. It is usually not associated with systemic disease.
Papular xanthoma
Necrobiotic xanthogranuloma is a rare, chronic and progressive, non-Langerhans cell histiocytosis disease typically characterized by multiple, indurated, asymptomatic to pruritic, yellow-orange plaques or nodules that tend to ulcerate and are usually located in the periorbital area, trunk and/or extremities. Strong association with paraproteinemia and/or malignant lymphoproliferative disease has been reported.
Necrobiotic xanthogranuloma
Destombes-Rosaï-Dorfman disease
Rosaï-Dorfman-Destombes disease
SHML
Sinus histiocytosis with massive lymphadenopathy
Rosaï-Dorfman disease is a rare benign non-Langerhans cell histiocytosis characterized by the development of large painless histiocytic masses in the lymph nodes, predominantly of the cervical region. Extranodal involvement can also be observed, such as in the skin, respiratory tract, bones, genitourinary system, soft tissues, oral cavity, and central nervous system. Additional findings may include fever, malaise, epistaxis, night sweats, weight loss, leukocytosis, elevated erythrocyte sedimentation rate and hypergammaglobulinemia.
Rosaï-Dorfman disease
Indeterminate dendritic cell neoplasm
Indeterminate dendritic cell tumor
Indeterminate cell histiocytosis is a rare neoplastic disease characterized by multiple, and on occasion single, asymptomatic, smooth, red-brown papulonodules located on the face, neck, trunk and/or extremities which present a nonepidermotrophic histiocytic infiltrate with immunohistochemical features of both Langerhans and non-Langerhans cells (i.e. immunopositive for S100 protein and CD1a in the absence of Birbeck granules and langerin expression).
Indeterminate cell histiocytosis
Progressive nodular histiocytosis is a rare, normolipemic, non-Langerhans cell histiocytosis characterized by progressive growth of multiple to disseminated, asymptomatic skin lesions that range in appearance from yellow plaques to coalescence-prone red-brown papules, nodules and pedunculated tumors up to 5 cm in size, located typically on the face, trunk and extremities (and rarely on conjuctiva and mucous membranes). Characteristic microscopic findings include a storiform spindle cell infiltrate in the deep dermis with xanthomatized macrophages and some Touton cells in the upper dermis. It is usually not associated with systemic disease.
Progressive nodular histiocytosis
Hereditary progressive mucinous histiocytosis is a rare, benign, non-Langerhans cell histiocytosis characterized by childhood or adolescence onset of multiple, small, asymptomatic, slowly progressing, skin-colored to red-brown papules with predilection for the face, dorsal hands, forearms and legs, without associated mucosal or visceral involvement. Histologically, papules are well-circumscribed, unencapsulated, nodular aggregates of histiocytes with abundant mucin in the upper and middermis.
Hereditary progressive mucinous histiocytosis
Sea-blue histiocytosis
HLH
Hemophagocytic lymphohistiocytosis
Hemophagocytic syndrome (HPS) is a rare immune disease (see this term) and a potentially life-threatening disorder characterized by cytokine storm and overwhelming inflammation causing fever, hepatosplenomegaly, cytopenia, hypertriglyceridemia, hyperferritinemia, and hemophagocytosis in bone marrow, liver, spleen or lymph nodes. It can be either primary due to a genetic defect (primary hemophagocytic lymphohistiocytosis ; see this term), or secondary to malignancies, to infections, most commonly with viruses such as Epstein-Barr virus or cytomegalovirus, human immunodeficiency virus, or to autoimmune disorders such as systemic lupus erythematosus or adult-onset Still disease (secondary hemophagocytic lymphohistiocytosis) (see these termes).
Hemophagocytic syndrome
Genetic hemophagocytic lymphohistiocytosis
Primary hemophagocytic lymphohistiocytosis
Acquired hemophagocytic lymphohistiocytosis
Reactive hemophagocytic syndrome
Secondary hemophagocytic lymphohistiocytosis
IAHS
VAHS
Virus-associated hemophagocytic syndrome
Hemophagocytic syndrome associated with an infection
Acquired hemophagocytic lymphohistiocytosis associated with malignant disease is a rare, secondary hemophagocytic lymphohistiocytosis characterized by occurring as either initial presentation of a malignant disease or at any stage during chemotherapy. The common associated malignancies are lukemias, B-cell, T-cell or NK-cell lymphomas, and Hodgkin lymphoma. Typical clinical manifestation includes fever, hepatosplenomegaly and cytopenias, combined with specific laboratory findings.
Acquired hemophagocytic lymphohistiocytosis associated with malignant disease
Macrophage activation syndrome
Aspartate tRNA ligase 2, mitochondrial
aspartyl-tRNA synthetase 2, mitochondrial
PDH
PDP
PPM2A
protein phosphatase, Mg2+/Mn2+ dependent 2A
pyruvate dehyrogenase phosphatase catalytic subunit 1
TRE
TREA
alpha,alpha-trehalase
alpha,alpha-trehalose glucohydrolase
trehalase
NTE
SWS
iPLA2delta
neuropathy target esterase
patatin like phospholipase domain containing 6
Non-distal deletion 10q
Non-telomeric monosomy 10q
Non-distal monosomy 10q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 10, with a highly variable phenotype principally characterized by developmental delays (usually of language and speech), variable cognitive impairment and neurobehavioral abnormalities such as autism spectrum disorders and attention deficit disorder. Macrocephaly and mild dysmorphic features may by associated. Overlap with other syndromes, such as Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome and juvenile polyposis syndrome has been reported.
Non-distal monosomy 10q
Genetic dementia
Huntington disease phenocopy syndrome
Huntington disease-like syndrome
Rare genetic hematologic disease
BCL5
BCL6A
LAZ3
ZBTB27
B cell CLL/lymphoma 6
H2-Bf
complement factor B
RPS17L1
RPS17L2
S17
ribosomal protein S17
non-protein coding RNA 3
ATXN8 opposite strand lncRNA
GDF9B
bone morphogenetic protein 15
CORD10
SemB
semaphorin 4A
semF
semaphorin 5A
bHLHe14
SIM bHLH transcription factor 1
natural resistance-associated macrophage protein 1
solute carrier family 11 member 1
solute carrier family 25 member 3
DYT18
DYT9
solute carrier family 2 member 1
GLYT2
glycine transporter 2
solute carrier family 6 member 5
KIAA0267
NHE6
solute carrier family 9 member A6
CT5.2a
HD21
HOM-MEL-40
MGC3884
cancer/testis antigen family 5, member 2a
sarcoma, synovial, X-chromosome-related 2
synovial sarcoma, X breakpoint 2, isoform b
synovial sarcoma, X breakpoint 2B
SSX family member 2
succinate-CoA ligase alpha subunit
ALS10
TDP-43
TAR DNA binding protein
HNF1
LFB1
HNF1 homeobox A
HNF1beta
LFB3
MODY5
VHNF1
HNF1 homeobox B
ITF2
SEF2-1B
bHLHb19
transcription factor 4
Suprabasal epidermolysis bullosa simplex is a subtype of inherited epidermolysis bullosa simplex and comprises a group of clinically and genetically heterogeneous conditions, with phenotype ranging from mild to severe, principally characterized by infantile, localized or generalized, superficial skin erosions due to blistering within the middle or upper epidermal layers. Features of ectodermal dysplasia are frequently associated and depending on the specific disorder, variable extracutaneous involvement may be observed.
Suprabasal epidermolysis bullosa simplex
Basal epidermolysis bullosa simplex
Ectodermal dysplasia-skin fragility syndrome
McGrath syndrome
Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized superficial erosions and less commonly blistering.
Epidermolysis bullosa simplex due to plakophilin deficiency
Acral dystrophic epidermolysis bullosa is a very rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by blistering confined primarily to the hands and feet.
Acral dystrophic epidermolysis bullosa
Nails-only DDEB
Dystrophic epidermolysis bullosa, nails only is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) that shows no blistering and that is characterized by dystrophic or absent nails.
Dominant dystrophic epidermolysis bullosa, nails only
EBS-migr
Epidermolysis bullosa simplex with circinate migratory erythema (EBS-migr) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by belt-like areas of erythema with multiple vesicles and small blisters at the advancing edge of erythema.
Epidermolysis bullosa simplex with circinate migratory erythema
EBS-PA
Epidermolysis bullosa simplex with pyloric atresia (EBS-PA) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia.
Epidermolysis bullosa simplex with pyloric atresia
LAEB
Lethal acantholytic epidermolysis bullosa is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized oozing erosions, usually in the absence of blisters.
Lethal acantholytic epidermolysis bullosa
Del(13)(q14)
Deletion 13q14
Monosomy 13q14 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, characterized by developmental delay, variable degrees of intellectual disability, retinoblastoma and craniofacial dysmorphism (incl. micro/dolichocephaly, high and broad forehead, prominent eyebrows, thick, anteverted ear lobes, short nose with a broad nasal bridge and bulbous tip, prominent philtrum, large mouth with thin upper lip and thick, everted lower lip). Other features reported include high birth weight, macrocephaly, pinealoma, hepatomegaly, inguinal hernia and cryptorchidism.
Monosomy 13q14
Typical urticaria pigmentosa
Plaque-form urticaria pigmentosa
Nodular urticaria pigmentosa
Smouldering systemic mastocytosis is a type of systemic mastocytosis (SM; see this term). This clonal hematologic disease, with a slow progression, results in an accumulation of neoplastic mast cells in the visceral organs over time and patients present with splenomegaly, hypercellular marrow and, in some cases, urticaria pigmentosa-like skin lesions.
Smouldering systemic mastocytosis
Isolated bone marrow mastocytosis
Lymphoadenopathic mastocytosis with eosinophilia
20%) in the bone marrow and/or blood, as well as other tissues such as the liver, peritoneum, spleen or bones. Patients typically present with symptoms related to mast cell activation (e.g. hot flushes, fever, malaise, diarrhea, tachycardia), weight loss, anorexia, hepatosplenomegaly or, less frequently, cutaneous mastocytosis. Gastroduodenal ulcers (often complicated by hemorrhage), ascites and portal hypertension have also been reported.
Classic mast cell leukemia
10%) in the bone marrow and/or blood, as well as other tissues such as the liver, peritoneum, spleen or bones. Patients typically present with symptoms related to mast cell activation (e.g. hot flushes, fever, malaise, diarrhea, tachycardia), weight loss, anorexia, hepatosplenomegaly or, less frequently, cutaneous mastocytosis. Gastroduodenal ulcers (often complicated by hemorrhage), ascites and portal hypertension have also been reported.
Aleukemic mast cell leukemia
CACT deficiency
Carnitine-acylcarnitine translocase (CACT) deficiency is a life-threatening, inherited disorder of fatty acid oxidation which usually presents in the neonatal period with severe hypoketotic hypoglycemia, hyperammonemia, cardiomyopathy and/or arrhythmia, hepatic dysfunction, skeletal muscle weakness, and encephalopathy.
Carnitine-acylcarnitine translocase deficiency
13q32 deletion
Deletion 13q32
Distal 13q deletion
Monosomy 13q32
Telomeric deletion13q
Distal monosomy 13q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, with a highly variable phenotype typically characterized by varying degrees of intellectual disability and developmental delay, as well as CNS malformations (e.g. holoprosencephaly, anencephaly, ventriculomegaly, Dandy-Walker malformation), ocular abnormalities (e.g. hypertelorism, microphthalmia, strabismus, aniridia, retinal dysplasia) and craniofacial dysmorphism (microcephaly, trigonocephaly, large and malformed ears, broad prominent nasal bridge, micrognathia). Cardiac, genitourinary, gastrointestinal and skeletal manifestations have also been reported.
Distal monosomy 13q
transforming growth factor alpha
LAP2
LEM domain containing 4
LEMD4
thymopoietin
CD254
ODF
OPGL
RANKL
TRANCE
TNF superfamily member 11
troponin C1, slow skeletal and cardiac type
GYF domain containing 2
GYF2
KIAA0642
GRB10 interacting GYF protein 2
JTK1
tyrosine kinase 2
HHR6A
RAD6A
UBC2
ubiquitin conjugating enzyme E2 A
ubiquitin recognition factor in ER associated degradation 1
Metavinculin
vinculin
MGC8941
MRX89
zinc finger protein 41
HBII-85
PET1
small nucleolar RNA, C/D box 116 cluster
FBRSL2
KIAA0442
AUTS2, activator of transcription and developmental regulator
NOP10P
homolog of yeast Nop10p
NOP10 ribonucleoprotein
GTL2
long intergenic non-protein coding RNA 23
non-protein coding RNA 23
onco-lncRNA-83
maternally expressed 3
HUR1
MART1
Mar1
PEG11
SIRH2
Sushi-Ichi retrotransposon homolog 2
mammalian retrotransposon-derived 1
paternally expressed 11
retrotransposon Gag like 1
P2Y5
lysophosphatidic acid receptor 6
KIND1
UNC112A
URP1
kinderlin
kindlin-1
fermitin family member 1
stereocilin
KEN
KIAA0402
PCNTB
Seckel syndrome 4
kendrin
pericentrin
actinin alpha 2
CD3d molecule
CD3e molecule
ALS11
SAC3
hSac3
FIG4 phosphoinositide 5-phosphatase
HRIHFB2122
KIAA1662
TAP68
Tara
TRIO and F-actin binding protein
ARCA1
CPG2
Enaptin
KIAA0796
MYNE1
Nesp1
Nesprin-1
SCAR8
SYNE-1B
dJ45H2.2
myocyte nuclear envelope protein 1
nuclear envelope spectrin repeat-1
spectrin repeat containing nuclear envelope protein 1
KIAA1516
NPHS3
Nephrosis type 3
PLCE
phosphoinositide phospholipase C
phospholipase C epsilon 1
B-cell stimulating factor 3
BSF-3
BSF3
CISS2
CLC
NNT-1
NNT1
NR6
cold-induced sweating syndrome 2
novel neurotrophin-1
cardiotrophin like cytokine factor 1
MG61
PORC
PPN
por
porcupine O-acyltransferase
radixin
CHAK1
LTRPC7
TRP-PLIK
transient receptor potential cation channel subfamily M member 7
EVIN1
LAK-4P
transmembrane channel like 6
Ymer
coiled-coil domain containing 50
CGI-89
ZNF379
ZNF380
zinc finger DHHC-type containing 9
ATP6N1D
ATP6a2
J6B7
TJ6
TJ6M
TJ6s
ATPase H+ transporting V0 subunit a2
LPDLR
PLA1B
mPA-PLA1
mPA-PLA1alpha
phospholipase A(1)
lipase H
cation channel sperm associated 2
KIAA0847
tau tubulin kinase 2
acetylcholine receptor, nicotinic, alpha 2 (neuronal)
cholinergic receptor nicotinic alpha 2 subunit
Kv8.2
potassium voltage-gated channel modifier subfamily V member 2
RET1
visual system homeobox 2
PPP1R147
protein phosphatase 1, regulatory subunit 147
sprouty related EVH1 domain containing 1
hClC-Ka
chloride voltage-gated channel Ka
HUPF3B
RENT3B
UPF3X
UPF3B, regulator of nonsense mediated mRNA decay
EVIN2
transmembrane channel like 8
FYVE-CENT
KIAA0321
spastizin
zinc finger FYVE-type containing 26
B-ALPHA-1
TUBA3
Tubulin, alpha, brain-specific
tubulin alpha 1a
solute carrier family 39 member 13
Tmhs
tetraspan membrane protein of hair cell stereocilia
LHFPL tetraspan subfamily member 5
CDHF13
LAH
desmoglein 4
DALRD2
PRO1992
arginine tRNA ligase 2, mitochondrial (putative)
arginyl-tRNA synthetase 2, mitochondrial
CNGB1B
GAR1
GARP
RCNC2
RCNCb
RP45
cyclic nucleotide-gated cation channel beta-1
glutamic acid-rich protein
cyclic nucleotide gated channel beta 1
LUN
TP53BPL
TOP1 binding arginine/serine rich protein
RNA binding motif protein 28
KIAA1025
TRAP240L
mediator complex subunit 13 like
KIAA1858
zinc finger protein 469
vitamin K epoxide reductase complex subunit 1
GCSFR
colony stimulating factor 3 receptor
GT24
NPRAP
neural plakophilin-related arm-repeat protein
neurojungin
catenin delta 2
CLN10
ceroid-lipofuscinosis, neuronal 10
cathepsin D
CG1
F18
mastermind like domain containing 1
Cernunnos
XLF
XRCC4-like factor
non-homologous end joining factor 1
BOM
grainyhead like transcription factor 2
cyclin Q
LUMA
MGC3222
transmembrane protein 43
major facilitator superfamily domain containing 8
dihydrofolate reductase
TGD
Tangier disease
ATP binding cassette subfamily A member 1
Delta1
FA1
Pref-1
ZOG
pG2
delta like non-canonical Notch ligand 1
JBTS9
KIAA1345
MKS6
Meckel syndrome, type 6
coiled-coil and C2 domain containing 2A
TERE1
transitional epithelia response protein
UbiA prenyltransferase domain containing 1
Gliostatin
thymidine phosphorylase
enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase
CSX2
NKX4-2
NK2 homeobox 6
Erythrocyte surface protein band 4.2
erythrocyte membrane protein band 4.2
CD16
CD16b
Fc gamma receptor IIIb
Fc fragment of IgG receptor IIIb
HBGF-3
INT-2 proto-oncogene protein
V-INT2 murine mammary tumor virus integration site oncogene homolog
murine mammary tumor virus integration site 2, mouse
oncogene INT2
fibroblast growth factor 3
DRAL
SLIM3
four and a half LIM domains 2
fragile X mental retardation associated 3
CIG
Cold-insoluble globulin
FINC
GFND2
LETS
Migration-stimulating factor
fibronectin 1
15q26 deletion syndrome
Distal 15q deletion syndrome
Monosomy 15q26
Telomeric 15q deletion syndrome
Distal monosomy 15q is a rare chromosomal anomaly syndrome characterized by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, hand and foot anomalies (e.g. brachy-/clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits) and mild craniofacial dysmorphism (incl. microcephaly, triangular face, broad nasal bridge, micrognathia). Neonatal lymphedema, heart malformations, aplasia cutis congenita, aortic root dilatation, and autistic spectrum disorder have also been reported.
Distal monosomy 15q
FAST1
forkhead box H1
FTH
PIG15
PLIF
apoferritin
placenta immunoregulatory factor
proliferation-inducing protein 15
ferritin heavy chain 1
FUS1
HNRNPP2
TLS
heterogeneous nuclear ribonucleoprotein P2
hnRNP-P2
translocated in liposarcoma
FUS RNA binding protein
GABA(A) receptor, beta 3
gamma-aminobutyric acid type A receptor beta3 subunit
hGCMb
glial cells missing homolog 2
progonadoliberin-1
gonadotropin releasing hormone 1
P504S
RACE
alpha-methylacyl-CoA racemase
Distal 17q deletion
Monosomy 17qter
Telomeric deletion 17q
Distal monosomy 17q is a very rare chromosomal disorder of unknown prevalence characterized by multiple craniofacial (microcephaly and eye, ear, and nose deformities), limb and other multiple organ abnormalities, growth and motor retardation and intellectual deficit. The syndrome is frequently lethal. The deletions include 17(q21.3q23), 17(q21.3q24.2), 17(q23.q24.3) and 17(q23.1q24.2).
Distal monosomy 17q
RAA1
RNASE5
ribonuclease A family member 5
angiogenin
3-hydroxyisobutyryl-CoA hydrolase
HLF, PAR bZIP transcription factor
NKX5-3
H6 family homeobox 1
homeobox A2
non-protein coding RNA 20
hydatidiform mole associated and imprinted
IGF-II
preptin
somatomedin A
insulin like growth factor 2
CD127
interleukin 7 receptor
Kv3.3
potassium voltage-gated channel subfamily C member 3
Kir1.4
Kir7.1
LCA16
potassium voltage-gated channel subfamily J member 13
SCDO3
LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
DBS
Megalin
gp330
LDL receptor related protein 2
ADCAD2
LDL receptor related protein 6
MALT1 protease
PCASP1
paracaspase 1
MALT1 paracaspase
ASH1
HASH1
bHLHa46
achaete-scute family bHLH transcription factor 1
A6L
ATP8
mitochondrially encoded ATP synthase membrane subunit A6L
mitochondrially encoded ATP synthase membrane subunit 8
MYCC
bHLHe39
c-Myc
MYC proto-oncogene, bHLH transcription factor
IKBA
IkappaBalpha
MAD-3
NF-kappa-B inhibitor alpha
NFKB inhibitor alpha
B23
NPM
Nucleophosmin/nucleoplasmin family, member 1
Numatrin
nucleolar phosphoprotein B23
nucleophosmin 1
18p- syndrome
De Grouchy syndrome
Monosomy 18p refers to a chromosomal disorder resulting from the deletion of all or part of the short arm of chromosome 18.
Monosomy 18p
phosphorylase kinase catalytic subunit gamma 2
LOT1
ZAC
PLAG1 like zinc finger 1
AC133
CD133
CORD12
RP41
prominin 1
ACAD4
LCAD
acyl-CoA dehydrogenase long chain
β-actin
actin beta
aminoacylase 1
PEO
PEO1
T7 helicase-related protein with intramitochondrial nucleoid localization
TWINKLE
TWINL
twinkle mtDNA helicase
ACV
IP3R1
Insp3r1
PPP1R94
protein phosphatase 1, regulatory subunit 94
inositol 1,4,5-trisphosphate receptor type 1
ERK
ERK2
MAPK2
p41mapk
mitogen-activated protein kinase 1
PSA
phosphoserine aminotransferase 1
HBII-52
small nucleolar RNA, C/D box 115 cluster
ActR-IIB
activin A receptor type 2B
AT2
MRX88
angiotensin II receptor type 2
KIAA1232
MRX90
NE-Dlg
NEDLG
PPP1R82
SAP-102
SAP102
neuroendocrine-dlg
protein phosphatase 1, regulatory subunit 82
discs large MAGUK scaffold protein 3
IL1R8
OPHN4
TIGIRR-2
interleukin 1 receptor accessory protein like 1
ARHGAP41
OPN1
oligophrenin 1
bPAK
hPAK3
p21 (RAC1) activated kinase 3
MRT7
MagT2
Magnesium uptake/transporter TUSC3
N33
OST3A
oligosaccharyltransferase 3 homolog A (S. cerevisiae)
tumor suppressor candidate 3
AP-2
transcription factor AP-2 alpha
QCR8
QP-C
UQCR7
complex III subunit 8
ubiquinol-cytochrome c reductase, complex III subunit VII
ubiquinol-cytochrome c reductase complex III subunit VII
MP17
MP19
lens intrinsic membrane protein 2
HTGL
Triacylglycerol lipase
lipase C, hepatic type
ALS
insulin like growth factor binding protein acid labile subunit
BRP17
DYT8
FKSG19
FPD1
KIAA1184
KIPP1184
MR-1
PDC
PKND1
TAHCCP2
myofibrillogenesis regulator 1
paroxysmal nonkinesigenic dyskinesia
Atypical X-linked achromatopsia
Blue cone monochromacy
Color blindness, blue monocone monochromatic type
S cone monochromacy
S cone monochromatism
X-linked incomplete achromatopsia
Blue cone monochromatism (BCM) is a recessive X-linked disease characterized by severely impaired color discrimination, low visual acuity, nystagmus, and photophobia, due to dysfunction of the red (L) and green (M) cone photoreceptors. BCM is as an incomplete form of achromatopsia (see this term).
Blue cone monochromatism
Angiofollicular ganglionic hyperplasia
Angiofollicular lymph hyperplasia
Castleman disease (CD) is a benign lymphoproliferative disorder that may present as a localized or multicentric form (see these terms). The clinical manifestations are heterogeneous, ranging from asymptomatic discrete lymphadenopathy to recurrent episodes of diffuse lymphadenopathy with severe systemic symptoms.
Castleman disease
18q deletion syndrome
18q- syndrome
Deletion 18q
Monosomy 18q is a partial deletion of the long arm of chromosome 18 characterized by highly variable phenotype, most commonly including hypotonia, developmental delay, short stature, growth hormone deficiency, hearing loss and external ear anomalies, intellectual disability, palatal defects, dysmorphic facial features, skeletal anomalies (foot deformities, tapering fingers, scoliosis) and mood disorders.
Monosomy 18q
dystonia 13, torsion
cytochrome P450 family 4 subfamily F member 22
retina and anterior neural fold homeobox
A-kinase anchor protein, 350kDa
A-kinase anchoring protein 450
AKAP120-like protein
AKAP350
AKAP450
AKAP9-BRAF fusion protein
CG-NAP
HYPERION
KIAA0803
LQT11
PPP1R45
PRKA9
YOTIAO
centrosome- and golgi-localized protein kinase N-associated protein
protein kinase A anchoring protein 9
protein phosphatase 1, regulatory subunit 45
A-kinase anchoring protein 9
LQT10
sodium voltage-gated channel beta subunit 4
CD246
ALK receptor tyrosine kinase
ARK3
AurC
aurora kinase C
apolipoprotein C3
CP115
CP94
Filensin
LIFL-H
beaded filament structural protein 1
ARMD9
C3a
C3a anaphylatoxin
C3b
CPAMD1
complement component C3a
complement component C3b
prepro-C3
complement C3
C4A2
C4A3
C4A4
C4A6
C4B
C4S
CO4
CPAMD2
complement C4A (Rodgers blood group)
C4B1
C4B3
C4F
CPAMD3
complement C4B (Chido blood group)
C5a
C5a anaphylatoxin
C5b
CPAMD4
prepro-C5
complement C5
complement C6
complement C7
complement C8 alpha chain
complement C8 beta chain
complement C8 gamma chain
complement C9
calcium voltage-gated channel auxiliary subunit alpha2delta 4
C3DR
CD21
Epstein-Barr virus receptor
complement C3d receptor 2
Cap inflammatory polyposis
Eroded polypoid hyperplasia
Inflammatory myoglandular polyps
Polypoid prolapsing folds
Cap polyposis (CP) is a rare colorectal disease characterized by multiple inflammatory polyps that predominantly affect the rectosigmoid area and that manifests primarily as rectal bleeding with abnormal transit, constipation and diarrhea.
Cap polyposis
HER3
human epidermal growth factor receptor 3
erb-b2 receptor tyrosine kinase 3
espin
ERR2
ERRb
ERRbeta
NR3B2
estrogen related receptor beta
KMT8E
MDS1-EVI1
PR domain 3
PRDM3
MDS1 and EVI1 complex locus
hGLE1
GLE1, RNA export mediator
CD25
interleukin 2 receptor subunit alpha
KIAA1374
intraflagellar transport 80
GSY
glycogen synthase 1
TRIC
Tricellulin
MARVEL domain containing 2
KANK
KIAA0172
KN motif and ankyrin repeat domains 1
trnW
mitochondrially encoded tRNA tryptophan
muscle associated receptor tyrosine kinase
myosin IIIA
phosphodiesterase 6H
KIAA0589
PIP5Kgamma
phosphatidylinositol-4-phosphate 5-kinase type 1 gamma
ACKR6
NIR1
RDGBA3
atypical chemokine receptor 6
PITPNM family member 3
CMD1P
phospholamban
PDXPO
pyridoxamine 5'-phosphate oxidase
DFNB61
deafness, neurosensory, autosomal recessive, 61
solute carrier family 26 member 5
Del(1)(p36)
Deletion 1p36
Deletion 1pter
Monosomy 1p36
Monosomy 1pter
Subtelomeric 1p36 deletion
1p36 deletion syndrome is a chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency.
1p36 deletion syndrome
use http://www.orpha.net/ORDO/Orphanet_261992 with label: Partial monosomy of the short arm of chromosome 20
Del(2)(q24)
Monosomy 2q24
2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism.
2q24 microdeletion syndrome
Cataract-glaucoma syndrome is characterised by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years.
Cataract-glaucoma syndrome
3p- syndrome
Distal 3p deletion
Monosomy 3pter
Telomeric monosomy 3p
Distal monosomy 3p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 3, with a highly variable phenotype typically characterized by pre- and post-natal growth retardation, intellectual disability, developmental delay and craniofacial dysmorphism (microcephaly, trigonocephaly, downslanting palpebral fissures, telecanthus, ptosis, micrognathia). Postaxial polydactyly, hypotonia, renal anomalies and congenital heart defects (e.g. atrioventricular septal defect) may be associated.
Distal monosomy 3p
Del(3)(q13)
Monosomy 3q13
3q13 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 3. Phenotype can be highly variable, but it is primarily characterized by significant developmental delay, postnatal growth above the mean, muscular hypotonia and distinctive facial features (such as broad and prominent forehead, hypertelorism, epicantic folds, anti-mongloid slanted eyes, ptosis, short philtrum, protruding lips with a full lower lip, high arched palate). Abnormal hypoplastic male genitalia and skeletal abnormalities are frequently present.
3q13 microdeletion syndrome
use http://www.orpha.net/ORDO/Orphanet_262029 with label: Partial deletion of the long arm of chromosome 4
Isolated apertura pyriformis stenosis
Isolated nasal pyriform aperture hypoplasia
Isolated congenital nasal pyriform aperture stenosis
use http://www.orpha.net/ORDO/Orphanet_280200 with label: Microform holoprosencephaly
OBSOLETE: Congenital nasal pyriform aperture stenosis with holoprosencephaly
Congenital auditory ossicle malformation without external ear abnormality
Isolated congenital auditory ossicle malformation is a rare, congenital, middle ear anomaly characterized by, usually unilateral and sporadic, variations in the number, size and/or configuration of the ossicles, with no tympanic membrane and external ear abnormalities and no history of trauma or infection. Patients frequently present late, after schooling has started, with non-progressive, conductive hearing loss often associated with speech delay and poor school performance.
Isolated congenital auditory ossicle malformation
Del (5)(q35)
Del (5)(qter)
Distal 5q deletion
Monosomy 5q35
Telomeric deletion 5q
(5q35.1). Various combinations of signs may result from deletions of variable extent depending on the genes comprised in the deleted segment.
Deletion 5q35
Bonneau-Beaumont syndrome
HHCS
Hereditary hyperferritinemia with congenital cataracts
Hereditary hyperferritinemia with congenital cataracts is characterized by the association of early onset (although generally absent at birth) cataract with persistently raised plasma ferritin concentrations in the absence of iron overload.
Hereditary hyperferritinemia-cataract syndrome
Brain malformation due to abnormal neuronal migration
Non-syndromic cerebral malformation due to abnormal neuronal migration
Subacute cutaneous lupus erythematosus (SCLE) is a form of cutaneous lupus erythematosus (CLE, see this term) that can present either as a non-scarring, annular photo-distributed dermatosis or psoriasiform plaques. SCLE is associated with anti-Ro/SSA antibodies and can be drug-induced.
Subacute cutaneous lupus erythematosus
use http://www.orpha.net/ORDO/Orphanet_535 with label: Rare cutaneous lupus erythematosus
OBSOLETE: Acute cutaneous lupus erythematosus
Chronic cutaneous lupus erythematosus (CCLE) is a form of cutaneous lupus erythematosus (CLE; see this term) that includes five different forms: discoid lupus erythematosus (DLE), chilblain lupus, hypertrophic or verrucous lupus erythematosus, lupus erythematosus tumidus, and lupus erythematosus panniculitis (see these terms).
Chronic cutaneous lupus erythematosus
Rare bacterial infectious disease
Rare viral disease
Rare parasitic disease
Rare mycosis
Alpha-thalassemia hydrops fetalis
Alpha-thalassemia major
Hemoglobin Bart's hydrops fetalis
Homozygous alpha0-thalassemia
Hb Bart's hydrops fetalis is the most severe form of alpha-thalassemia (see this term) and is almost always lethal. It is characterized by fetal onset of generalized edema, pleural and pericardial effusions, and severe hypochromic anemia.
Hb Bart's hydrops fetalis
Distal deletion 7q36
Monosomy 7qter
Telomeric deletion 7q36
Distal monosomy 7q36 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 7, with a highly variable phenotype typically characterized by holoprosencephaly, growth restriction, developmental delay, facial dysmorphism (facial clefts, prominent forehead, hypertelorism, low-set ears, flat and broad nasal bridge, large mouth), abnormal fingers and palm or sole creases, ocular abnormalities, and other congenital malformations (incl. genital anomalies and caudal deficiency sequence). Cardiopathies have been occasionally reported.
Distal monosomy 7q36
Bile acid synthesis defect with cholestasis and malabsorption
Maffucci syndrome is a very rare genetic bone and skin disorder characterized by multiple enchondromas, leading to bone deformities, combined with multiple dark, irregularly shaped hemangiomas or less commonly lymphangiomas.
Maffucci syndrome
Rare disorder related with pregnancy, childbirth and puerperium
Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataract-intellectual disability syndrome
Spondyloepiphyseal dysplasia Nishimura type is characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit.
Spondyloepiphyseal dysplasia, Nishimura type
SED-BDS
Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome
Tattoo dysplasia
Spondyloepiphyseal dysplasia, Cantu type is an extremely rare type of spondyloepiphyseal dysplasia (see this term) described in about 5 patients to date and characterized by clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet (brachymetacarpalia, brachymetatarsalia and brachyphalangia).
Spondyloepiphyseal dysplasia, Cantu type
Spondyloepiphyseal dysplasia, Reardon type is an extremely rare type of spondyloepiphyseal dysplasia (see this term) described in several members of a single family to date and characterized by short stature, vertebral and femoral abnormalities, cervical instability and neurologic manifestations secondary to anomalies of the odontoid process.
Spondyloepiphyseal dysplasia, Reardon type
Spondyloepiphyseal dysplasia tarda, Kohn type is characterized by short trunk dwarfism, progressive involvement of the spine and epiphyses and mild-to-moderate intellectual deficit.
Spondyloepiphyseal dysplasia tarda, Kohn type
Spondyloepiphyseal dysplasia-myopia-sensorineural deafness syndrome
Spondyloepiphyseal dysplasia (SED), MacDermot type is characterized by short stature, femoral epiphyseal dysplasia, mild vertebral changes and sensorineural deafness.
Spondyloepiphyseal dysplasia, MacDermot type
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_93284 with label: Spondyloepiphyseal dysplasia tarda
Spondyloepiphyseal dysplasia, Byers type
use http://www.orpha.net/ORDO/Orphanet_254 with label: Spondylometaphyseal dysplasia
OBSOLETE: Unclassified spondylometaphyseal dysplasia
CDFE syndrome
CDFES
Cortical dysplasia-focal epilepsy syndrome is a rare genetic epilepsy characterized by relatively large head circumference or macrocephaly, diminished or absent deep-tendon reflexes and mild gross motor delay in infancy, followed by intractable focal seizures with language regression, behavioral abnormalities (hyperactivity, attention deficit, aggressive/autoaggressive behavior, autistic features) and intellectual disability later in life.
Cortical dysplasia-focal epilepsy syndrome
Leukoencephalopathy-dystonia-motor neuropathy syndrome is a peroxisomal neurodegenerative disorder characterized by spasmodic torticollis, dystonic head tremor, intention tremor, nystagmus, hyposmia, and hypergonadotrophic hypogonadism with azoospermia. Slight cerebellar signs (left-sided intention tremor, balance and gait impairment) are also noted. Magnetic resonance imaging (MRI) shows bilateral hyperintense signals in the thalamus, butterfly-like lesions in the pons, and lesions in the occipital region, whereas nerve conduction studies of the lower extremities shows a predominantly motor and slight sensory neuropathy.
Leukoencephalopathy-dystonia-motor neuropathy syndrome
Hypotonia-Cystinuria syndrome (HCS) is a rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism.
Hypotonia-cystinuria syndrome
2p21 deletion syndrome
Del(2)(p21)
Monosomy 2p21
The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growthand developmental delay, facial dysmorphism, and lactic acidemia.
2p21 microdeletion syndrome
AMRF
EPM4
Myoclonus-nephropathy syndrome
Progressive myoclonic epilepsy type 4
Action myoclonus-renal failure syndrome (AMRF) is a rare epilepsy syndrome characterized by progressive myoclonus epilepsy in association with primary glomerular disease. Patients present with neurologic symptoms (including tremor, action myoclonus, tonic-clonic seizures, later ataxia and dysarthria) that may precede, occur simultaneously or be followed by renal manifestations including proteinuria that progresses to nephrotic syndrome and end-stage renal disease. In some patients, sensorimotor peripheral neuropathy, sensorineural hearing loss and dilated cardiomyopathy are associated symptoms.
Action myoclonus-renal failure syndrome
ASPS
Alveolar soft part sarcoma
Alveolar soft tissue sarcoma
AERRPS
Acute encephalitis with refractory repetitive partial seizures
Acute non-herpetic encephalitis with severe refractory status epilepticus
DESC syndrome
Devastating epileptic encephalopathy in school-aged children
FIRES
Fever-induced refractory epileptic encephalopathy in school-aged children
Idiopathic catastrophic epileptic encephalopathy
Severe refractory status epilepticus owing to presumed encephalitis
Febrile infection-related epilepsy syndrome (FIRES) describes an explosive-onset, potentially fatal acute epileptic encephalopathy that develops in previously healthy children and adolescents following the onset of a non-specific febrile illness.
Febrile infection-related epilepsy syndrome
Late-onset infantile spasms
Cryptogenic late-onset epileptic spasms is a rare epilepsy syndrome characterized by late-onset (after 1 year old) epileptic spasms that ocurr in clusters, associated with tonic seizures, atypical absences and cognitive deterioration. Language difficulties and behavior problems are frequently present. EEG is characterized by a temporal, or temporofrontal, slow wave or spike focus combined with synchronous spike-waves and no hypsarrhythmia or background activity.
Cryptogenic late-onset epileptic spasms
Benign FMTLE
Benign familial mesial temporal lobe epilepsy is a rare epilepsy characterized by seizures with viscerosensory or experential auras, onset in adolescence or early adulthood and good prognosis. It is defined as at least 24 months of seizure freedom with or without antiepileptic medication.
Benign familial mesial temporal lobe epilepsy
Rolandic epilepsy-speech dyspraxia syndrome is a rare, genetic epilepsy characterized by speech disorder (including a range of symptoms from dysarthria, speech dyspraxia, receptive and expressive language delay/regression and acquired aphasia to subtle impairments of conversational speech) and epilepsy (mostly focal and secondary generalized childhood-onset seizures, sometimes with aura). Mild to severe intellectual disability may also be observed.
Rolandic epilepsy-speech dyspraxia syndrome
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome
Neurologic Waardenburg-Shah syndrome
PCWH
WS4 plus
Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease (PCWH) is a systemic disease characterized by the association of the features of Waardenburg-Shah syndrome (WSS) with neurological features of variable severity.
Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease
Limbic encephalitis
Paraneoplastic limbic encephalitis
Classic paraneoplastic limbic encephalitis, with or without intracellular antigens
Classic paraneoplastic limbic encephalitis is a rare neuroimmunological disorder characterized by the sudden onset of seizures, progressive memory impairment (which may develop into dementia) and psychiatric manifestations (e.g. depression, personality changes, loss of social inhibition) associated with cancer (most commonly small-cell carcinoma of the lung) in the absence of tumor cell invasion of the nervous system. Other reported features include ataxia, dystonia, paresthesia, tremors, paranoid ideation, and hallucinations. The presence of antibodies that act on neuronal antigens (such as anti-Hu, anti-Ma2, anti-amphiphysin) are typically observed.
Classic paraneoplastic limbic encephalitis
Limbic encephalitis associated with antibodies to cell membrane antigens
Limbic encephalitis with leucine-rich glioma-inactivated 1 antibodies
Limbic encephalitis with LGI1 antibodies is a rare neuroimmunological disorder characterized by the onset of cognitive decline, psychiatric disturbances and seizures (distinctively faciobrachial dystonic seizures) in association with detection of LGI1 antibodies in serum or cerebrospinal fluid. Patients may present with confusion, hallucinations, vocalization, paranoia, tangentiality, aggressive outbursts and/or spatial disorientation, as well as obstinate hyponatremia. It is most often non-paraneoplastic, however comorbid tumors, such as small cell lung cancer and thymoma, have been reported.
Limbic encephalitis with LGI1 antibodies
use http://www.orpha.net/ORDO/Orphanet_163903 with label: Limbic encephalitis associated with antibodies to cell membrane antigens
OBSOLETE: Limbic encephalitis with nCMAgs antibodies
Non-paraneoplastic limbic encephalitis
PALE
Posttransplant acute limbic encephalitis is a rare, acquired, non-paraneoplastic limbic encephalitis disorder, that develops in the setting of treatment-related immunosuppression, typically after allogeneic hemapoietic stem cell transplantation, characterized by onset of confusion, headache, anterograde amnesia, seizures and/or loss of consciousness 2-6 weeks following transplantation. Bilateral, non-enhancing T2 hyperintensities in limbic structures are observed on magnetic resonance imaging. Mild cerebrospinal fluid pleocytosis and syndrome of inappropriate antidiuretic hormone secretion may also be associated.
Posttransplant acute limbic encephalitis
Non-herpetic acute limbic encephalitis is a rare neuroinflammatory/neuroautoimmune disease characterized by an acute (or subacute) onset of disturbance of consciousness (occasionally presenting as convulsions) and high fever, associated with cerebral lesions (on magnetic resonance imaging) that are restricted to the limbic system (particularly the hippocampi and amygdalae), in the absence of viral, bacterial, fungal, paraneoplastic and other disorders.
Non-herpetic acute limbic encephalitis
LPP
Localized pustular psoriasis
PPP
Palmoplantar pustulosis
Pustulosis palmaris et plantaris
Acrodermatitis continua of Hallopeau
Atopic keratoconjunctivitis is a rare and chronic allergic disease of the cornea and conjunctiva occurring in all age groups characterized by severe itching and burning sensation, conjunctival injection, photophobia and edema with serious cases leading to ulceration of the cornea which can result in blindness. It is often associated with atopic dermatitis.
Atopic keratoconjunctivitis
MICPCH
X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome
Najm type X-linked intellectual deficit is a rare cerebellar dysgenesis syndrome characterized by variable clinical manifestations ranging from mild intellectual deficit with or without congenital nystagmus, to severe cognitive impairment associated with cerebellar and pontine hypoplasia/atrophy and abnormalities of cortical development.
X-linked intellectual disability, Najm type
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_776 with label: X-linked intellectual disability with marfanoid habitus
X-linked intellectual disability, Raymond type
X-linked intellectual disability-nail dystrophy-seizures syndrome
X-linked intellectual disability, Nascimento type is a rare X-linked intellectual disability syndrome characterized by intellectual disability (with severe speech impairment), a myxedematous appearance, dysmorphic facial features (including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth with everted lower lip and downturned lip corners), low posterior hairline, short, broad neck, marked general hirsutism and abnormal hair whorls, skin changes (e.g. dry skin or hypopigmented spots), widely spaced nipples, obesity, micropenis, onychodystrophy and seizures.
X-linked intellectual disability, Nascimento type
X-linked intellectual disability, Kroes type
X-linked cerebral-cerebellar-coloboma syndrome is a rare, genetic syndrome with a cerebellar malformation as major feature characterized by cerebellar vermis hypo- or aplasia, ventriculomegaly, agenesis of corpus callosum and abnormalities of the brainstem and cerebral cortex in association with ocular coloboma. Clinically, patients show hydrocephalus at birth, neonatal hypotonia with abnormal breathing pattern, ocular abnormalities with impaired vision, severe psychomotor delay, and seizures.
X-linked cerebral-cerebellar-coloboma syndrome
X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome
X-linked dominant chondrodysplasia Chassaing-Lacombe type is a rare genetic bone disorder characterized by chondrodysplasia, intrauterine growth retardation (IUGR), hydrocephaly and facial dysmorphism in the affected males.
X-linked dominant chondrodysplasia, Chassaing-Lacombe type
X-linked intellectual disability-microcephaly-testicular failure syndrome
X-linked intellectual deficit, Cilliers type is characterized by mild intellectual deficit associated with short stature, hypergonadotropic hypogonadism, microcephaly and mild facial dysmorphism (deep-set eyes, prominent supraorbital ridges, a high nasal bridge and large ears).
X-linked intellectual disability, Cilliers type
X-linked intellectual deficit, Van Esch type is characterized by mild to moderate intellectual deficit associated with low birth weight, short stature, microcephaly and variable hypergonadotropic hypogonadism.
X-linked intellectual disability, Van Esch type
X-linked intellectual disability-craniofacioskeletal syndrome is a rare, hereditary, syndromic intellectual disability characterized by craniofacial and skeletal abnormalities in association with mild intellectual disability in females and early postnatal lethality in males. In addition to mild cognitive impairment, females present with microcephaly, short stature, skeletal features and extra temporal lobe gyrus. In males, intrauterine growth impairment, cardiac and urogenital anomalies have been reported.
X-linked intellectual disability-craniofacioskeletal syndrome
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_59 with label: Allan-Herndon-Dudley syndrome
X-linked intellectual disability-spastic quadriparesis syndrome
Hyperekplexia-epilepsy syndrome
Developmental delay-deafness syndrome, Hildebrand type
Rare odontal or periodontal disorder
Middle ear anomaly
Distal deletion 9p
Monosomy 9pter
Telomeric deletion 9p
Distal monosomy 9p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 9, with a highly variable phenotype typically characterized by intellectual disability, craniofacial dysmorphism (trigonocephaly, upslanting palpebral fissures, hypoplastic supraorbital ridges), abnormal digits (long middle phalanges with short distal phalanges), as well as frequent association with genitourinary abnormalities (cryptorchidism, hypospadias, ambiguous genitalia, 46,XY testicular dysgenesis). Congenital hypothyroidism and cardiovascular defects have been reported in some cases. Patients present an increased risk for gonadoblastoma.
Distal monosomy 9p
Del(X)(p23)
Xp22.3 microdeletion syndrome is a microdeletion syndrome resulting from a partial deletion of the chromosome X. Phenotype is highly variable (depending on length of deletion), but is mainly characterized by X linked ichthyosis, mild-moderate intellectual deficit, Kallmann syndrome, short stature, chondrodysplasia punctata and ocular albinism. Epilepsy, attention deficit-hyperactivity disorder, autism and difficulties with social communication can be associated.
Xp22.3 microdeletion syndrome
Male sterility due to chromosome Y deletion
Male sterility due to chromosome Y deletion is characterized by a severe deficiency of spermatogenesis. Chromosome Y deletions are a frequent genetic cause of male infertility.
Partial chromosome Y deletion
Delleman syndrome
Delleman-Oorthuys syndrome
Leichtman-Wood-Rohn syndrome
OCCS
Orbital cyst with cerebral and focal dermal malformations
Oculocerebrocutaneous syndrome (OCCS) is a rare congenital disorder associated with an intellectual disability and is typically characterized by the triad of eye, central nervous system and skin malformations.
Oculocerebrocutaneous syndrome
AML and myelodysplastic syndromes related to radiation
Acute myeloid leukemia and myelodysplastic syndromes related to radiation represent a subgroup of therapy-related myeloid neoplasms (t-MN), associated with treatment of an unrelated neoplastic disease with radiation. The neoplastic cells typically harbor unbalanced aberrations of chromosomes 5 and 7 (monosomy 5/del(5q) and monosomy 7/del(7q)) or a complex karyotype. Patients frequently present with multilineage dysplasia and cytopenias 5-10 years after exposure.
Acute myeloid leukemia and myelodysplastic syndromes related to radiation
FASPS
Familial advanced sleep-phase syndrome (FASPS) is a very rare circadian rhythm sleep disorder characterized by very early sleep onset and offset possibly resulting in emotional and physical disruptions.
Familial advanced sleep-phase syndrome
Rare acquired aplastic anemia
Lipidosis with triglyceride storage disease
Neutral lipid storage disease (NLSD) refers to a group of diseases characterized by a deficit in the degradation of cytoplasmic triglycerides and their accumulation in cytoplasmic lipid vacuoles in most tissues of the body. The group is heterogeneous: currently cases of NLSD with icthyosis (NLSDI/Dorfman-Chanarin disease; see this term) and NLSD with myopathy (NLSDM/neutral lipid storage myopathy; see this term) can be distinguished.
Neutral lipid storage disease
Dent syndrome
Low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis
Renal Fanconi syndrome with nephrocalcinosis and renal stones
X-linked recessive hypercalciuric hypophosphatemic rickets
X-linked recessive nephrolithiasis
Dent disease is a rare genetic renal tubular disease characterized by manifestations of proximal tubule dysfunction.
Dentin dysplasia (DD) is a rare disorder belonging to the group of hereditary dentin defects (see this term) and is characterized by abnormal dentin structure and root development resulting in abnormal tooth development. It encompasses two subtypes: DD type I and DD type II (see these terms).
Dentin dysplasia
use http://www.orpha.net/ORDO/Orphanet_99811 with label: Neuronal intestinal pseudoobstruction
OBSOLETE: Natal teeth-intestinal pseudoobstruction-patent ductus syndrome
Müllerian derivatives-lymphangiectasia-polydactyly syndrome is characterised by prenatal linear growth deficiency, hypertrophied alveolar ridges, redundant nuchal skin, postaxial polydactyly and cryptorchidism. Mullerian duct remnants, lymphangiectasis, and renal anomalies are also present. Three cases have been described. A small penis was observed in two of these cases. The syndrome is likely to be an autosomal recessive or X-linked trait. All the reported patients died neonatally of hepatic failure.
Müllerian derivatives-lymphangiectasia-polydactyly syndrome
bHLH factor Hes7
bHLHb37
hes family bHLH transcription factor 7
Duhring-Brocq disease
Dermatitis herpetiformis (DH) is a chronic autoimmune subepidermal bullous disease characterized by grouped pruritic lesions such as papules, urticarial plaques, erythema, and herpetiform vesiculae, with a predominantly symmetrical distribution on extensor surfaces of the elbows (90%), knees (30%), shoulders, buttocks, sacral region, and face of children and adults. Erosions, excoriations and hyperpigmentation usually follow. DH may also appear as a consequence of gluten intolerance.
Dermatitis herpetiformis
Rare genetic gastroenterological disease
Genetic intestinal disease
Genetic gastro-esophageal disease
Genetic pancreatic disease
Dermatoosteolysis, Kirghizian type, is characterised by recurrent skin ulceration, arthralgia, fever, peri-articular osteolysis, oligodontia and nail dystrophy. This disease has been described in five sibs in a family of Kirghizian origin (Central Asia). Three of the sibs also presented with keratitis leading to visual impairment or blindess. Transmission is autosomal recessive.
Dermatoosteolysis, Kirghizian type
Non-syndromic urogenital tract malformation
Syndromic urogenital tract malformation
Rare abdominal surgical disease
Absence of dermatoglyphics-congenital milia syndrome
Baird syndrome
Absence of fingerprints-congenital milia syndrome is characterized by neonatal blisters and milia (small white papules, especially on the face) and congenital absence of dermatoglyphics on the hands and feet. It has been reported in two kindreds (one of which contained 13 affected individuals spanning three generations) and in an unrelated individual. Some affected patients also showed bilateral partial flexion contractures of the fingers and toes, and webbing of the toes. The syndrome is inherited as an autosomal dominant trait.
Absence of fingerprints-congenital milia syndrome
Familial mesial temporal lobe epilepsy with febrile seizures
CKID
CKIdelta
HCKID
casein kinase 1 delta
GLIS family zinc finger 3
ENDAP
Endosomal adaptor protein
MAPBPIP
MAPKSP1 adaptor protein
MAPKSP1AP
Mitogen activated protein binding protein interacting protein
Ragulator2
late endosomal/lysosomal adaptor, MAPK and MTOR activator 2
Dermatoleukodystrophy is characterised by the association of a progressive leukodystrophy marked by generalised mental and motor impairment with the presence of thickened and wrinkled skin. It has been described in a Japanese brother and sister born to healthy parents. Both patients died in early childhood.
Dermatoleukodystrophy
CCN2
IGFBP8
connective tissue growth factor
sterol carrier protein 2
HLGP85
LIMP-2
LIMPII
SR-BII
lysosomal integral membrane protein II
lysosome membrane protein 2
scavenger receptor class B member 2
KIAA0436
prolyl endopeptidase like
Caspr2
KIAA0868
NRXN4
contactin associated protein like 2
Traumatic myiasis
Wound myiasis
Cavitary myiasis is a rare parasitic disease characterized by the infestation of natural body cavities (e.g. aural, nasal, oral, urogenital myiasis) and internal organs (e.g. cerebral myiasis, ophthalmomyiasis, intestinal and tracheopulmonary myiasis) with dipteran larvae. Clinical presentation is variable depending on the affected site(s) and degree of infestation and include foreign-body sensation (with or without movement sensation), hemorrhage, pain, edema, sensory loss, malodor, and pruritus, among others. Neurological features (e.g. motor deficits, seizures, reduced mental status, extrapyramidal signs) have been reported in cerebral myiasis.
Cavitary myiasis
use http://www.orpha.net/ORDO/Orphanet_99983 with label: Cutaneous myiasis
acetylcholine receptor, nicotinic, beta 2 (neuronal)
cholinergic receptor nicotinic beta 2 subunit
CAGH39
FGS4
LIN2
calcium/calmodulin dependent serine protein kinase
Hyperinsulinemic hypoglycemia, diazoxide-sensitive diffuse form
Diazoxide-sensitive diffuse hyperinsulinism
Hyperinsulinemic hypoglycemia, diazoxide-resistant diffuse form
Diazoxide-resistant diffuse hyperinsulism (DRDH) is a form of Diazoxide resistant hyperinsulinism (see this term) characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to diffuse involvement of pancreas that is unresponsive to medical treatment with diazoxide, often necessitating near total/total pancreatectomy.
Diazoxide-resistant diffuse hyperinsulinism
EIHI
Exercise-induced hyperinsulinemic hypoglycemia
Hyperinsulinism due to SLC16A1 deficiency
Hyperinsulinism due to monocarboxylate transporter 1 deficiency
Exercise-induced hyperinsulinism (EIHI) is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by episodes of hypoglycemia induced by exercise due to an inappropriate lactate and pyruvate sensitivity in pancreatic beta-cells.
Exercise-induced hyperinsulinism
PRTH
Selective pituitary resistance to thyroid hormone
Pituitary resistance to thyroid hormone is a rare, genetic thyroid disease, due to reduced pituitary gland responsiveness to thyroid hormone, characterized by mild to moderate hyperthyroidism in association with elevated circulating thyroid hormone levels, normal or elevated thyroid stimulating hormone, and no abnormalities of the pituitary gland on MRI. Patients present with diffuse large goiter, tachycardia, atrial fibrillation, weight loss and/or heat intolerance/perspiration, but no exophthalmos or anterior tibial mixedema.
Pituitary resistance to thyroid hormone
CMT/HMSN
Charcot-Marie-Tooth hereditary neuropathy
Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy
Dermo-odonto dysplasia belongs to the group of tricho-odonto-onychial dysplasias. It is characterised by signs of variable severity: dry and thin skin, dental anomalies, nail alteration and trichodysplasia. Fourteen cases have been described so far. Autosomal dominant transmission is likely.
Dermoodontodysplasia
Multiple epiphyseal dysplasia due to collagen 9 anomaly is a rare primary bone dysplasia disorder characterized by normal or mild short stature, early-onset pain and/or stiffness of the joints (mainly affecting knees but also elbows, wrists, ankles and fingers, with relative sparing of the hips) and early degenerative joint disease. Other skeletal anomalies (incl. varus or valgus deformities, osteochondritis dissecans, abnormal carpal shape, free articular bodies) and mild myopathy have also been reported.
Multiple epiphyseal dysplasia due to collagen 9 anomaly
Multiple epiphyseal dysplasia-myopia-deafness syndrome
Multiple epiphyseal dysplasia, Beighton type is a skeletal dysplasia characterized by epiphyseal dysplasia (usually mild) associated with progressive myopia, retinal thinning, crenated cataracts, conductive deafness, and stubby digits.
Multiple epiphyseal dysplasia, Beighton type
Multiple epiphyseal dysplasia with Robin phenotype
Multiple epiphyseal dysplasia, Lowry type is a rare primary bone dysplasia characterized by small, flat epiphyses (esp. the capital femoral epiphyses), rhizomelic shortening of limbs, cleft of secondary palate, micrognathia, mild joint contractures and facial dysmorphism (incl. mildly upward-slanting palpebral fissures, hypertelorism, broad nasal tip). Additionally reported features include scoliosis, genu valgum, mild pectus excavatum, platyspondyly, dislocated radial heads, brachydactyly, hypoplastic fibulae and talipes equinovarus.
Multiple epiphyseal dysplasia, Lowry type
Multiple epiphyseal dysplasia-macrocephaly-distinctive facies syndrome
Multiple epiphyseal dysplasia, Al-Gazali type is a skeletal dysplasia characterized by multiple epiphyseal dysplasia (see this term), macrocephaly and facial dysmorphism.
Multiple epiphyseal dysplasia, Al-Gazali type
Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia is a rare primary bone dysplasia characterized by severe, early-onset dysplasia of the proximal femurs, with almost complete absence of the secondary ossification centers and abnormal development of the femoral necks (short and broad with irregular metaphyses). It is associated with gait abnormality, mild short stature, arthralgia, joint stiffness with limited mobility of the hips and irregular acetabula, and hip and knee pain. Coxa vara and mild spinal changes are also associated.
Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia
Multiple epiphyseal dysplasia, with miniepiphyses is a rare primary bone dysplasia disorder characterized by strikingly small secondary ossification centers (mini-epiphyses) in all or only some joints, resulting in severe bone dysplasia of the proximal femoral heads. Short stature, increased lumbar lordosis, genua vara and generalized joint laxity have also been reported.
Multiple epiphyseal dysplasia, with miniepiphyses
Brachydactyly-short stature-retinitis pigmentosa syndrome is a rare, genetic, congenital limb malformation syndrome characterized by mild to severe short stature, brachydactyly, and retinal degeneration (usually retinitis pigmentosa), associated with variable intellectual disability, develomental delays, and craniofacial anomalies.
Brachydactyly-short stature-retinitis pigmentosa syndrome
Metaphyseal chondrodysplasia, Kaitila type is a rare multiple metaphyseal dysplasia disease characterized by disproportionate short stature, short limbs and digits, tracheobronchial malacia and progressive thoracolumbar scoliosis. Radiographic imaging shows progression from marked metaphyseal dysplasia of tubular bones in childhood to short and broad bones with mild dysplasia of the joints in adulthood. There have been no further descriptions in the literature since 1982.
Metaphyseal chondrodysplasia, Kaitila type
KIAA0424
PEM-2
collybistin
Cdc42 guanine nucleotide exchange factor 9
Fatal infantile encephalopathy with olivopontocerebellar hypoplasia
Olivopontocerebellar hypoplasia
PCH4
Pontocerebellar hypoplasia type 4 (PCH4) is a very rare form of PCH (see this term), characterized by prenatal onset of polyhydramnios and contractures followed by hypertonia, severe clonus, primary hypoventilation leading to an early postnatal death.
Pontocerebellar hypoplasia type 4
Fetal-onset olivopontocerebellar hypoplasia
PCH5
Pontocerebellar hypoplasia type 5 (PCH5) is a very rare severe form of PCH (see this terme) with prenatal onset and characterized by fetal onset of clonus or seizures-like activity persisting in infancy and microencephaly leading to early postnatal death. There is significant overlap both in phenotype and in genotype between pontocerebellar hypoplasia types 4 and 5.
Pontocerebellar hypoplasia type 5
Fatal infantile encephalopathy with mitochondrial respiratory chain defects
PCH6
Pontocerebellar hypoplasia type 6 (PCH6) is a rare form of pontocerebellar hypoplasia (see this term) characterized clinically at birth by hypotonia, clonus, epilepsy impaired swallowing and from infancy by progressive microencephaly, spasticity and lactic acidosis.
Pontocerebellar hypoplasia type 6
Type 1 von Willebrand disease (type 1 VWD) is a form of VWD (see this term) characterized by a bleeding disorder associated with a partial quantitative plasmatic deficiency of an otherwise structurally and functionally normal Willebrand factor (von Willebrand factor; VWF).
Von Willebrand disease type 1
Type 2 von Willebrand disease (type 2 VWD) is a form of VWD (see this term) characterized by a bleeding disorder associated with a qualitative deficiency and functional anomalies of the Willebrand factor (von Willebrand factor; VWF).
Von Willebrand disease type 2
Type 2A von Willebrand disease (type 2A VWD) is a subtype of type 2 VWD (see this term) characterized by a bleeding disorder associated with a decrease in the affinity of the Willebrand factor (von Willebrand factor; VWF) for platelets and the subendothelium caused by a deficiency of high molecular weight VWF multimers.
Von Willebrand disease type 2A
Type 2B von Willebrand disease (type 2B VWD) is a subtype of type 2 VWD (see this term) characterized by a bleeding disorder associated with an increase in the affinity of the Willebrand factor (von Willebrand factor; VWF) for platelets. This anomaly results in spontaneous binding of high molecular weight VWF multimers to platelets leading to rapid clearance of both the platelets (increasing the risk of thrombocytopenia) and the high molecular weight VWF multimers from the plasma.
Von Willebrand disease type 2B
Type 2M von Willebrand disease (type 2M VWD) is a subtype of type 2 VWD (see this term) characterized by a bleeding disorder associated with a decrease in the affinity of the Willebrand factor (von Willebrand factor; VWF) for platelets and the subendothelium in the absence of any deficiency of high molecular weight VWF multimers.
Von Willebrand disease type 2M
Type 2N von Willebrand disease (type 2N VWD) is a subtype of type 2 VWD (see this term) characterized by a bleeding disorder associated with a marked decrease in the affinity of the Willebrand factor (von Willebrand factor; VWF) for factor VIII (FVIII).
Von Willebrand disease type 2N
Type 3 von Willebrand disease (type 3 VWD) is the most severe form of VWD (see this term) characterized by a bleeding disorder associated with a total or near-total absence of Willebrand factor (von Willebrand factor; VWF) in the plasma and cellular compartments, also leading to a profound deficiency of plasmatic factor VIII (FVIII).
Von Willebrand disease type 3
Corneal dystrophy epithelial-short stature syndrome
Guízar Vázquez-Luengas-Muñoz syndrome
X-linked corneal dermoid (X-CND) is an exceedingly rare, benign, congenital, corneal tumor characterized by bilateral opacification of the cornea with superficial grayish layers and irregular raised whitish plaques, as well as fine blood vessels covering the central cornea, and intact peripheral corneal borders. No other ocular or systemic abnormality is noted. The pattern of inheritance described in the affected family is consistent with X-linked transmission.
X-linked corneal dermoid
Stickler syndrome, non-ocular type
Stickler syndrome type 3 is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss, and skeletal/joint anomalies (including spondyloepiphyseal dysplasia, arthralgia/arthropathy), in the absence of ocular abnormalities.
Stickler syndrome type 3
FASTKD2-related infantile mitochondrial encephalomyopathy is a rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by infantile-onset encephalomyopathy presenting with developmental delay, slowly progressive hemiplegia, intractable epileptic seizures and asymmetrical brain atrophy with dilatation of the ipsilateral ventricle system. Additional features include optic atrophy, mildly increased plasma and/or CSF lactate and decreased cytochrome c oxidase acitivity in skeletal muscle biopsy.
FASTKD2-related infantile mitochondrial encephalomyopathy
Intellectual disability-hypotonia-facial dysmorphism syndrome
Intellectual disability, Birk-Barel type is a rare, genetic, syndromic intellectual disability characterized by congenital central hypotonia, developmental delay, moderate to severe intellectual disability and subtle dysmorphic features which evolve over time (dolichocephaly, myopathic facies, ptosis, short and broad philtrum, tented upper lip vermillion, palatal anomalies, mild micro- and/or retrognathia). Patients present reduced facial movements, lethargy, weak cry, transient neonatal hypoglycemia, severe feeding difficulties and failure to thrive. Dysphagia, particularly of solid food, asthenic body build, joint contractures and scoliosis are additional features.
Intellectual disability, Birk-Barel type
Acrokeratosis of Bazex
Acrokeratosis paraneoplastica
Acrokeratosis paraneoplastica of Bazex
Bazex syndrome is a rare paraneoplastic syndrome characterized by acral psoriasiform lesions.
Bazex syndrome
Isolated osteopoikilosis
Hyperkeratosis-contracture syndrome
Lethal restrictive dermopathy
Tight skin contracture syndrome
Restrictive dermopathy (RD) is a neonatal lethal genetic disease characterized by very tight and thin skin with erosions and scaling, associated to a typical facial dysmorphism, arthrogryposis multiplex, fetal akinesia or hypokinesia deformation sequence (FADS) (see these terms) and pulmonary hypoplasia without neurological abnormalities.
Restrictive dermopathy
K2p9.1
TASK-3
TASK3
potassium two pore domain channel subfamily K member 9
Capdepont teeth
DGI-2
DI-2
Dentinogenesis imperfecta, Shields type 2
Dentinogenesis imperfecta type 2 (DGI-2) is a rare, severe form of dentinogenesis imperfecta (DGI, see this term) and is characterized by weakness and discoloration of all teeth.
Dentinogenesis imperfecta type 2
Dentinogenesis imperfecta, Shields type 3
Dentinogenesis imperfecta type 3 (DGI-3) is a rare, severe form of dentinogenesis imperfecta (DGI, see this term) characterized by opalescent primary and permanent teeth, marked attrition, large pulp chambers, multiple pulp exposure and shell teeth radiographically (i.e. teeth which appear hollow due to dentin hypotrophy).
Dentinogenesis imperfecta type 3
Chondrodysplasia-dentinogenesis imperfecta-joint laxity syndrome
Goldblatt chondrodysplasia
Goldblatt syndrome
ODCD
Odontochondrodysplasia, also called Goldblatt syndrome, is a very rare syndrome associating chondrodysplasia with dentinogenesis imperfecta.
Odontochondrodysplasia
Suarez-Stickler syndrome
Skeletal dysplasia with wormian bone-multiple fractures-dentinogenesis imperfecta is a skeletal disorder, reported in three patients to date, characterized clinically by multiple fractures, wormian bones of the skull, dentinogenesis imperfecta and facial dysmorphism (hypertelorism, periorbital fullness). Although the signs are very similar to osteogenesis imperfecta, characteristic cortical defects in the absence of osteopenia and collagen abnormalities are considered to be distinctive. There have been no further descriptions in the literature since 1999.
Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia
Familial sinus node dysfunction
Sick sinus syndrome is a rare cardiac rhythm disease, usually of the elderly, characterized by electrocardiographic findings of sinus bradycardia, atrial fibrillation, atrial tachycardia sinus arrest, or sino-atrial block, and that manifest with symptoms like syncope, dizziness, palpitations, fatigue, or even heart failure. It results from malfunction of the cardiac conduction system, probably secondary to degenerative fibrosis of nodal tissue in the elderly or secondary to cardiac disorders in younger patients.
Familial sick sinus syndrome
Comedo nevus of the palm
Porokeratotic eccrine nevus
Porokeratotic eccrine ostial and dermal duct nevus
), which is transmitted by mosquitoes. The disease is characterized by the presence of subcutaneous nodules (or a conjunctival form that develops slowly and that can be painless to tender), edema and erythema at the site of parasite localization, a feeling of 'crawling' under the skin, and the ''Calabar'' swelling (similar to thatin loiasis (see this term). The latter may last a few days and recurrences are possible. Common localizations of dirofilaria are head and neck, most commonly in the periorbital region, the limbs and trunk.
Dirofilariasis
Benign non-familial infantile seizures
Benign partial epilepsy of infancy with complex partial seizures is a rare infantile epilepsy syndrome characterized by complex partial seizures presenting with motion arrest, decreased responsiveness, staring, automatisms and mild clonic movements, with or without apneas, normal interictal EEG and focal, mostly temporal discharges in ictal EEG. Most often, seizures occur in clusters and have a good response to treatment. Psychomotor development is normal.
Benign partial epilepsy of infancy with complex partial seizures
Benign partial epilepsy with secondarily generalized seizures in infancy is a rare infantile epilepsy syndrome characterized by seizures presenting with motion arrest and staring. They are followed by generalized tonic-clonic convulsions with normal interictal EEG and focal paroxysmal discharges, followed by generalization in ictal EEG. Seizures usually occur in clusters and are responsive to treatment. Psychomotor development is normal.
Benign partial epilepsy with secondarily generalized seizures in infancy
Benign infantile seizures associated with mild gastroenteritis is a rare infantile epilepsy syndrome characterized by benign afebrile seizures in previously healthy infants and children (age range 1 month to 6 years) with mild acute gastroenteritis without any central nervous system infection, severe dehydration, or electrolyte imbalances. In most cases the seizures are tonic-clonic with focal origin on EEG, occur between day 1 and 6 following onset of acute gastroenteritis, cease within 24 hours and do not persist after the illness.
Benign infantile seizures associated with mild gastroenteritis
BIMSE
Benign infantile focal epilepsy with midline spikes and waves during sleep is a rare infantile epilepsy syndrome characterized by age of onset between 4 and 30 months, partial sporadic seizures presenting with motion arrest, staring, cyanosis and, less common, automatisms and lateralizing signs, and characteristic interictal sleep EEG changes consisting of a spike followed by a bell-shaped slow wave in the midline region.
Benign infantile focal epilepsy with midline spikes and waves during sleep
Benign partial infantile seizures
Photosensitive epilepsy
Hot water reflex epilepsy is a rare neurologic disease characterized by the onset of generalized or focal seizures following immersion of the head in hot water, or with hot water being poured over the head. Primary generalized tonic-clonic seizures have been reported in rare cases.
Hot water reflex epilepsy
Audiogenic seizures is a rare neurologic disease characterized by seizures that are triggered by acoustic stimulation, which can be simple (as in startle epilepsy) or complex (e.g. musicogenic seizures, seizures triggered by the voice).
Audiogenic seizures
Eating epilepsy
Eating seizures
Eating reflex epilepsy
Orgasm-induced seizures is a rare neurologic disease characterized by complex partial seizures with or without secondary generalization, or idiopathic primarily generalized epilepsy, triggered by sexual orgasm. Seizures usually start immediately, shortly after or a few hours after the achievement of orgasm, last a few seconds or minutes, and are followed, in very rare cases, by intense migraine.
Orgasm-induced seizures
Thinking seizures is a rare neurologic disease characterized by seizures induced by specific cognitive tasks, such as calculation or solving arithmetic problems (e.g. Sudoku puzzle), playing thinking games (e.g. Rubik's cube, chess, cards), thinking, making decisions and abstract reasoning. Idiopathic generalized seizures are mainly involved, but partial epilepsies may, in rare cases, be observed.
Thinking seizures
Startle epilepsy is a rare neurologic disease characterized by frequent and spontaneous epileptic seizures (frequently with symmetrical or asymmetrical tonic features) triggered by a normal startle in response to a sudden and unexpected somatosensory (most frequently auditory) stimulus. Falls are common and can be traumatic. In most cases, the disease is associated with spastic hemi-, di-, or tetraplegia and intellectual disability.
Startle epilepsy
Micturation-induced seizures is a rare neurologic disease characterized by tonic posturing or clonic movements triggered by micturition, with bilateral or unilateral involvement of the extremities and with or without loss of consciousness. Developmental delay is reported in some cases.
Micturation-induced seizures
Reading seizures
use http://www.orpha.net/ORDO/Orphanet_163918 with label: Non-paraneoplastic limbic encephalitis
OBSOLETE: Other forms of non-paraneoplastic limbic encephalitis
Epilepsy syndrome
Neurocutaneous syndrome with epilepsy
Chromosomal anomaly with epilepsy as a major feature
Monogenic disease with epilepsy
Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes
Cerebral malformation with epilepsy
Metabolic diseases with epilepsy
Inflammatory and autoimmune disease with epilepsy
Cerebral diseases of vascular origin with epilepsy
Infectious disease with epilepsy
Sporadic fetal brain disruption sequence is a rare, non-syndromic, central nervous system malformation disorder characterized by severe microcephaly (average occipitofrontal circumference -5.8 SD), overlapping sutures, keel-like occipital bone prominence, scalp rugae with normal hair pattern and signs of neurological impairment. Brain imaging may show ventriculomegaly, cortical tissue deficit, and hydranencephaly.
Sporadic fetal brain disruption sequence
Dextrocardia
MUNC18-1
UNC18
hUNC18
rbSec1
syntaxin-binding protein 1
syntaxin binding protein 1
HRPAP20
HSPC125
My013
NADH:ubiquinone oxidoreductase complex assembly factor 4
Early-onset diabetes mellitus with multiple epiphyseal dysplasia
WRS
Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure.
Wolcott-Rallison syndrome
EFGM
EGF1
GFM
mtEF-G1
G elongation factor mitochondrial 1
integrin subunit alpha 7
ERIS
Miner1
NAF-1
endoplasmic reticulum intermembrane small protein
mitoNEET related 1
nutrient-deprivation autophagy factor-1
CDGSH iron sulfur domain 2
QCR7
UQCR6
cytochrome b-c1 complex subunit 7
ubiquinol-cytochrome c reductase, complex III subunit VI
ubiquinol-cytochrome c reductase binding protein
thyroid stimulating hormone beta
trnH
mitochondrially encoded tRNA histidine
Rare bleeding disorder due to an acquired coagulation factor defect
Rare coagulopathy due to an acquired coagulation factor defect
Rare hemorrhagic disorder due to an acquired coagulation factor defect
OAT4L
RST
URAT1
solute carrier family 22 member 12
CT108
cancer/testis antigen 108
otoancorin
myosin IA
pejvakin
DFNA40
thiomorpholine-carboxylate dehydrogenase
crystallin mu
claudin 14
actin gamma 1
growth differentiation factor 1
Chédiak-Higashi disease
Chédiak-Higashi-Steinbrink syndrome
Chédiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described.
Chédiak-Higashi syndrome
Chronic diarrhea with villous atrophy is a rare, genetic gastroenterological disease characterized by the early onset of chronic diarrhea, vomiting, anorexia, lactic acidosis, renal insufficiency and hepatic involvement (mild elevation of liver enzymes, steatosis, hepatomegaly). Partial villous atrophy (with eosinophilic infiltration) is observed on intestinal biopsy. Although diarrhea may resolve, the development of neurologic symptoms (cerebellar ataxia, sensorineural deafness, seizures), retinitis pigmentosa and muscle weakness may complicate disease course and lead to death. There have been no further descriptions in the literature since 1994.
Chronic diarrhea with villous atrophy
SCM type 1
Split cord malformation type 1
Diastematomyelia
Diencephalic cachexia
Diencephalic syndrome of childhood
Diencephalic syndrome of emaciation
Russell diencephalic cachexia
Russell syndrome
Diencephalic syndrome (DS) is a rare condition characterized by profound emaciation and failure to thrive (with normal caloric intake and normal linear growth), hyperalertness, hyperkinesia and euphoria, in the presence of hypothalamic tumors.
Diencephalic syndrome
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_79500 with label: DOORS syndrome
Familial pyrimidinemia
Dihydropyrimidine dehydrogenase deficiency
Idiopathic pulmonary artery dilatation is a rare developmental defect during embryogenesis characterized by the dilatation of the main pulmonary artery, with or without dilatation of the right and left pulmonary artery branches, and not attributed to any other cardiac, pulmonary and/or arterial wall disease. It may present with exertional dyspnea, fatigue, cough, hemoptysis, palpitation and chest pain, but may also be asymptomatic. In serious cases, trachea constriction due to postural changes may lead to attacks of cyanosis with severe dyspnea. Sudden cardiac death has been reported in some cases.
Idiopathic pulmonary artery dilatation
Arndt-Gottron disease
Generalized lichenoid papular eruption
Generalized papular and sclerodermoid lichen myxedematosus
Scleromyxedema
Idiopathic dilatation of the right atrium (IDRA) is a rare congenital heart malformation of unknown etiology that is characterized by an extremely dilated right atrium, and that is usually asymptomatic and fortuitously discovered by echocardiography or chest radiography, and can be sometimes associated with other anomalies such as atrial arrhythmias (e.g. atrial flutter, atrial fibrillation, supraventricular tachycardia), severe tricuspid regurgitation, or atrial thrombus that could lead to potentially life-threatening thromboembolic complications.
Familial idiopathic dilatation of the right atrium
Unclassified AML
Unclassified acute myeloid leukemia
ACID1
ARC92
TCBAP0758
mediator complex subunit 25
The hereditary dentin disorders, dentinogenesis imperfecta (DGI) and dentin dysplasia (DD), comprise a group of conditions characterized by abnormal dentin structure affecting either the primary or both the primary and secondary dentitions.
Hereditary dentin defect
Rare disease with dentinogenesis imperfecta
Cardiomyopathy
BF1
HBF-3
HFK1
HFK2
HFK3
QIN
brain factor 1
forkhead box G1
K-glypican
glypican proteoglycan 4
glypican 4
CD283
toll like receptor 3
PGAM-M
phosphoglycerate mutase 2
DEAD-box helicase 3 Y-linked
KIAA0347
period circadian regulator 2
GEF720
KIAA0720
Syx
Tech
synectin-binding guanine exchange factor
pleckstrin homology and RhoGEF domain containing G5
COXG
cytochrome c oxidase subunit 6B1
SYN16
hsyn16
syntaxin 16
Diphtheria
TRNS1
mitochondrially encoded tRNA serine 1 (UCN)
RP8
TRNS2
mitochondrially encoded tRNA serine 2 (AGU/C)
trnF
mitochondrially encoded tRNA phenylalanine
Loose anagen syndrome is a rare benign hair disorder affecting predominantly blond females in childhood and characterized by the presence of hair that can be easily and painlessly pulled out. Most of the hair is in the anagen phase and lacks an external epithelial sheath. Hair grows back quickly and the condition improves spontaneously with aging. Loose anagen hair can be associated with other anomalies, such as coloboma.
Loose anagen syndrome
Pam18
TIMM14
Tim14
mitochondrial import inner membrane translocase subunit TIM14
DnaJ heat shock protein family (Hsp40) member C19
CLN11
PCDGF
PGRN
progranulin
granulin precursor
15-hydroxyprostaglandin dehydrogenase (NAD(+))
SDR36C1
short chain dehydrogenase/reductase family 36C, member 1
15-hydroxyprostaglandin dehydrogenase
KIAA0260
UGTREL7
solute carrier family 35 member D1
glutamine synthetase
glutamate-ammonia ligase
HK2
HPCN1
Kv1.5
potassium voltage-gated channel subfamily A member 5
melanocortin 4 receptor
ISU2
IscU
hnifU
iron-sulfur cluster assembly enzyme
L-kynurenine hydrolase
kynureninase
Craniofacial duplication
Diprosopia
Diprosopus is a rare, life-threatening developmental defect during embryogenesis, and a subtype of conjoined twins, characterized by partial or complete duplication of the facial structures on a single head, neck, trunk and body. It may be associated with congenital anomalies involving the cardiovascular, gastrointestinal, respiratory and central nervous systems. Cleft lip and palate have been reported in rare cases.
Diprosopus
p53R2
ribonucleotide reductase regulatory TP53 inducible subunit M2B
MCT
MCT1
solute carrier family 16 member 1
A15
CD231
DXS1692E
TALLA-1
tetraspanin 7
LEFTA
LEFTYA
transforming growth factor, beta-4 (endometrial bleeding-associated factor; LEFTY A)
left-right determination factor 2
HCA2
Hypercalciuria, absorptive, 2
SAC
SACI
Sacy
soluble adenylyl cyclase
adenylate cyclase 10
dual oxidase maturation factor 2
Rare cardiac tumor
Arterial dissection-lentiginosis syndrome is a rare association syndrome, reported in several members of two families to date, characterized by arterial dissection, occurring at an early age and presenting with a range of manifestations depending on the vascular territory involved (ex. headache, dysphasia, hemiparesis), in association with cystic medial necrosis and multiple lentigines (brown and black in color and mainly affecting the skin of the trunk and extremities).
Arterial dissection-lentiginosis syndrome
SEN54
SEN54L
tRNA splicing endonuclease subunit 54
FAST kinase domains 2
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_33001 with label: Lymphedema-distichiasis syndrome
Distichiasis-congenital heart defects-peripheral vascular anomalies syndrome
NPHP7
nephrocystin-7
GLIS family zinc finger 2
AD4BP
ELP
FTZ1
SF-1
SF1
hSF-1
steroidogenic factor 1
nuclear receptor subfamily 5 group A member 1
JH8
jerky
Jrk helix-turn-helix protein
Cool-2
Cool2
KIAA0006
PAK-interacting exchange factor, alpha
Rac/Cdc42 guanine exchange factor (GEF) 6
alpha-PIX
alphaPIX
rho guanine nucleotide exchange factor 6
Rac/Cdc42 guanine nucleotide exchange factor 6
HFZ20
zinc finger protein 81
EIEE9
KIAA1313
protocadherin 19
40S ribosomal protein S14
EMTB
S14
emetine resistance
ribosomal protein S14
insulin
AITD3
TGN
thyroglobulin
YRRM1
YRRM2
RNA binding motif protein, Y-linked, family 1, member A1
LCA14
phosphatidylcholine--retinol O-acyltransferase
lecithin retinol acyltransferase
CT154
DM domain expressed in testis 1
doublesex and mab-3 related transcription factor 1
SSV
becaplermin
oncogene SIS
platelet derived growth factor subunit B
ASPL
TUG
Tether containing UBX domain for GLUT4
UBX domain protein 9
UBXD9
UBXN9
ASPSCR1, UBX domain containing tether for SLC2A4
CAIN
CAN
CAN protein, putative oncogene
D9S46E
nuclear pore complex protein Nup214
nucleoporin 214
D6S231E
DEK proto-oncogene
Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome is a rare primary bone dysplasia disorder characterized by congenital hypotrichosis associated with rhizomelic short stature (more pronounced in upper limbs than lower limbs), limited hip abduction and mild genu varum. Flared and irregular metaphyses, delayed and irregular epiphiseal ossification and pear-shaped vertebral bodies are characteristic radiologic findings.
Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome
Spondyloepimetaphyseal dysplasia, Bieganski type is a rare primary bone dysplasia disorder characterized by infantile-onset, progressive, multiple skeletal deformities in association with slowly progressive central and peripheral neurodegeneration. Patients present short stature, coarse facies, psychomotor regression and cognitive impairment. Imaging shows abnormally-shaped vertebral bodies, small, flat epiphyses, and widened metaphyses, as well as cerebral and cerebellar atrophy and progressive axonal-hypomyelinating neuropathy.
Spondyloepimetaphyseal dysplasia, Bieganski type
Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome is a rare primary bone dysplasia disorder characterized by the association of dental anomalies (oligodontia with pointed incisors) and generalized platyspondyly with epiphyseal and metaphyseal involvement. Thin tapering fingers and accentuated palmar creases are additional features.
Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome
SEMD, Geneviève type
SEMDG
Spondyloepimetaphyseal dysplasia, Geneviève type is a rare primary bone dysplasia characterized by severe developmental delay and skeletal dysplasia (including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses), as well as moderate to severe intellectual disability and facial dysmorphism, including prominent forehead, mild synophrys, depressed nasal bridge, prominent bulbous nasal tip and full lips.
Spondyloepimetaphyseal dysplasia, Geneviève type
Congenital NCL
Congenital neuronal ceroid lipofuscinosis (CNCL) is a severe form of neuronal ceroid lipofuscinosis (NCL; see this term) with onset at birth characterized by primary microcephaly, neonatal epilepsy, and death in early infancy.
Congenital neuronal ceroid lipofuscinosis
Jansky-Bielschowsky disease
LINCL
Late infantile NCL
Late infantile neuronal ceroid lipofuscinoses (LINCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset during infancy or early childhood with decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration.
Late infantile neuronal ceroid lipofuscinosis
Distomiasis
Fluke infection
Distomatosis is a group of parasitoses caused by flat worms that live in contact with epitheliums. Clinical classification depends on the organ infected by the adult parasite: liver, lungs, or intestines.
Distomatosis
X-linked spondylometaphyseal dysplasia
Spondylometaphyseal dysplasia, Golden type is a rare primary bone dysplasia disorder characterized by severe short stature, coarse facies, thoracolumbar kyphoscoliosis and enlarged joints with contractures. Psychomotor delay and intellectual disability may also be associated. Radiographic features include flat vertebral bodies, lacy ossification of the metaphyses of long bones and iliac crests, and marked sclerosis of the skull base.
Spondylometaphyseal dysplasia, Golden type
Axial spondylometaphyseal dysplasia is a rare type of spondylometaphyseal dysplasia characterized by metaphyseal changes of the truncal-juxtatruncal bones associated with retinal dystrophy. Patients typically present progressive postnatal growth failure with rhizomelic shortening of the limbs, a deformed, hypoplastic thorax and retinitis pigmentosa or pigmentary retinal degeneration. Radiographic findings include short ribs with flared, cupped anterior ends, mild platyspondyly, lacy ilia and metaphyseal dysplasia of the proximal femora.
Axial spondylometaphyseal dysplasia
Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome is a rare, genetic, primary bone dysplasia disorder characterized by short stature, hyperlordosis, protuberant abdomen, mild bilateral genu varum, bowed and shortened forearms with limited elbow extension, and discrete facial dysmorphism (prominent forehead, hypertelorism, flat nasal bridge). Radiographically, moderate platyspondyly, including posterior wedging with anterior bullet-shaped vertebral bodies, with minimal metaphyseal abnormalities are observed.
Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome
Spondylometaphyseal dysplasia, A4 type is a rare primary bone dysplasia disorder characterized by disproportionate short stature, severe femoral neck deformity, marked metaphyseal abnormalities and platyspondyly consisting of ovoid vertebral bodies that have an anterior tongue-like deformity.
Spondylometaphyseal dysplasia, A4 type
XY sex reversal-adrenal failure
gene. Milder cases may present delayed onset of adrenal gland dysfunction and genitalia phenotype may range from normal male to female in individuals with 46,XY karyotype. Imaging studies reveal hypoplastic/absent adrenal glands and biochemical findings include low serum cortisol, mineralocorticoids, androgens, and sodium, with elevated potassium levels.
46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome is a rare, genetic, developmental defect during embryogenesis disorder characterized by partial (unilateral testis, persistence of Müllerian duct structures) or complete (streak gonads only) gonadal dysgenesis, usually manifesting with primary amenorrhea in individuals with female phenotype but 46,XY karyotype, and sensorimotor dysmyelinating minifascicular polyneuropathy, which presents with numbness, weakness, exercise-induced muscle cramps, sensory disturbances and reduced/absent deep tendon reflexes. Germ cell tumors (seminoma, dysgerminoma, gonadoblastoma) may develop from the gonadal tissue.
46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome
Fatal mitochondrial disease due to COXPD3
Combined oxidative phosphorylation deficiency type 3 is an extremely rare clinically heterogenous disorder described in about 5 patients to date. Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy.
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
H syndrome is a systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML).
H syndrome
Congenital myopathy-cleft palate-malignant hyperthermia syndrome
Native American myopathy (NAM) is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia.
Native American myopathy
CHC type 2
Hereditary cryohydrocytosis type 2
Stomatin-deficient cryohydrocytosis
sdCHC
Hereditary cryohydrocytosis with reduced stomatin is a rare hemolytic anemia characterized by combination of neurologic features, such as psychomotor delay, seizures, variable movement disorders, and hemolytic anemia with stomatocytosis, resulting in cation-leaky erythrocytes, pseudohyperkalemia, hemolytic crises and hepatosplenomegaly. Cataracts are also a presenting feature.
Hereditary cryohydrocytosis with reduced stomatin
Hereditary North American Indian childhood cirrhosis is a severe autosomal recessive intrahepatic cholestasis that has only been described in aboriginal children from northwestern Quebec. Manifesting first as transient neonatal jaundice, the disease evolves into periportal fibrosis and cirrhosis during a period ranging from childhood to adolescence.
Hereditary North American Indian childhood cirrhosis
11-beta-hydroxysteroid dehydrogenase deficiency type 1
Hyperandrogenism due to cortisone reductase deficiency
SIDDT
Sudden infant death with dysgenesis of the testes (SIDDT) syndrome is a lethal condition in infants with dysgenesis of testes.
Sudden infant death-dysgenesis of the testes syndrome
MAT I/III deficiency
MAT deficiency
Methionine adenosyltransferase deficiency
Hypermethioninemia due to methionine adenosyltransferase deficiency is a very rare metabolic disorder resulting in isolated hepatic hypermethioninemia that is usually benign due to partial inactivation of enzyme activity. Rarely patients have been found to have an odd odor or neurological disorders such as brain demyelination.
Brain demyelination due to methionine adenosyltransferase deficiency
Congenital cardiac diverticulum (CCD) is a very rare congenital malformation characterized by a muscular appendix emerging from the left ventricular apex, rarely from the right ventricle or from both chambers, with clinical manifestations ranging from asymptomatic to life-threatening hemodynamic collapse.
Cardiac diverticulum
Congenital enterokinase deficiency
Congenital enteropathy due to enteropeptidase deficiency is a rare, genetic, gastroenterological disease characterized by early-onset failure to thrive, edema, hypoproteinemia, diarrhea and fat malabsorption (or steatorrhea) in the presence of very low or absent trypsin activity in duodenal fluid. Celiac disease, or other pancreatic or mucosal disorders, may be associated.
Congenital enteropathy due to enteropeptidase deficiency
Seborrhea-like dermatitis with psoriasiform elements is a rare, genetic, epidermal disorder characterized by a chronic, diffuse, fine, scaly erythematous rash on the face (predominantly the chin, nasolabial folds, eyebrows), around the earlobes and over the scalp, associated with hyperkeratosis over elbows, knees, palms, soles and metacarpophalangeal joints, in the absence of associated rheumatological or neurological disorders. Cold weather, emotional stress and strenuous physical activity may exacerbate symptoms.
Seborrhea-like dermatitis with psoriasiform elements
Mitochondrial isolated neurosensory deafness with susceptibility to aminoglycoside exposure
Mitochondrial isolated neurosensory hearing loss with susceptibility to aminoglycoside exposure
Mitochondrial isolated sensorineural deafness with susceptibility to aminoglycoside exposure
Mitochondrial isolated sensorineural hearing loss with susceptibility to aminoglycoside exposure
Mitochondrial non-syndromic neurosensory deafness with susceptibility to aminoglycoside exposure
Mitochondrial non-syndromic neurosensory hearing loss with susceptibility to aminoglycoside exposure
Mitochondrial non-syndromic sensorineural hearing loss with susceptibility to aminoglycoside exposure
Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure
Congenital deficiency in alpha-fetoprotein is a benign genetic condition characterized by a dramatically decreased level of alpha-fetoprotein in fetus or neonate.
Congenital deficiency in alpha-fetoprotein
Hereditary persistence of alpha-fetoprotein is a benign genetic condition characterized by persistence of high alpha-fetoprotein (AFP) levels throughout life, with no associated clinical disability and thus no need for specific therapy
Hereditary persistence of alpha-fetoprotein
Meyer dysplasia of the femoral head is a mild localized form of skeletal dysplasia characterized by delayed, irregular ossification of femoral capital epiphysis.
Dysplasia of head of femur, Meyer type
Scaphocephaly-macrocephaly-maxillary retrusion-intellectual disability syndrome
Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis (see this term) syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability.
Familial scaphocephaly syndrome, McGillivray type
Autosomal thrombocytopenia with normal platelets
Generalized basaloid follicular hamartoma syndrome is a rare, genetic skin disease characterized by multiple milium-like, comedone-like lesions and skin-colored to hyperpigmented, 1 to 2 mm-sized papules, associated with hypotrichosis and palmar/plantar pits. Lesions are usually first noticed on cheeks or neck and gradually increase in size and number to involve the scalp, face, ears, shoulders, chest, axillas, and upper arms. In severe cases, lower back, lower arms, and back of the legs can be involved. Mild hypohidrosis has also been reported.
Generalized basaloid follicular hamartoma syndrome
Rare ASD
Rare PDD
Rare autism spectrum disorder
Rare pervasive developmental disorder
Dementia infantilis
Heller syndrome
Childhood disintergrative disorder is a rare pervasive developmental disorder with a disease onset before the age of three and characterized by a dramatic loss of behavioral and developmental functioning after atleast two years of normal development. Manifestations of the disease include loss of speech, incontinence, communication and social interaction problems, stereotypical autistic behaviors and dementia.
Childhood disintegrative disorder
Atriodigital dysplasia, Slovenian type
Cardiac conduction disease-dilated cardiomyopathy-brachydactyly syndrome
Heart-hand syndrome of Slovenian type is a rare autosomal dominant form of heart-hand syndrome (see this term), first described in members of a Slovenian family, that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases.
Heart-hand syndrome, Slovenian type
Primary peritoneal tumor
Primary malignant peritoneal tumor
Diffuse malignant peritoneal mesothelioma
Primary malignant peritoneal mesothelioma
Malignant peritoneal mesothelioma is a primary peritoneal malignancy occurring in the lining cells (mesothelium) of the peritoneal cavity.
Malignant peritoneal mesothelioma
Benign multicystic peritoneal mesothelioma
Multicystic mesothelioma
Multilocular peritoneal inclusion cyst
Peritoneal cystic mesothelioma is a rare benign tumor characterized by the formation of intra-abdominal multilocular cystic masses.
Peritoneal cystic mesothelioma
EOPPC
Extra-ovarian primary peritoneal carcinoma
PPC
Primary peritoneal serous carcinoma
Serous surface papillary carcinoma
Primary peritoneal carcinoma (PPC) is a rare malignant tumor of the peritoneal cavity of extra-ovarian origin, clinically and histologically similar to advanced-stage serous ovarian carcinoma (see this term).
Primary peritoneal carcinoma
Chronic eosinophilic leukemia
Myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB or FGFR1
Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement is a rare, malignant, neoplastic disease characterized by clonal proliferation of myeloid and/or lymphoid precursors harboring rearrangements in the PDGFRA gene, in the blood, bone marrow and often other tissues as well (spleen, lymph nodes, skin, etc.). It usually presents as chronic eosinophilic leukemia or, less commonly, as acute myeloid leukemia or T-lymphoblastic leukemia with eosinophilia. Patients usually present with eosinophilia, anemia, thrombocytopenia, neutrophilia, splenomegaly, lymphadenopathy, fever, sweating and/or weight loss. Tissue infiltration by eosinophils can manifest with skin rash, erythema, cough, neurological alterations, gastrointestinal symptoms or, rarely, endomyocardial fibrosis and restrictive cardiomyopathy.
Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement
Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement is a rare, malignant, neoplastic disease characterized by clonal proliferation of myeloid and/or lymphoid precursors harboring rearrangements in the PDGFRB gene, in the blood, bone marrow and often other tissues as well (spleen, lymph nodes, skin, etc.). It usually presents as chronic myelomonocytic leukemia with eosinophilia, chronic eosinophilic leukemia, atypical chronic myelogenous leukemia, juvenile myelomonocytic leukemia, myelodysplastic syndrome, acute myeloid leukemia or acute lymphoblastic leukemia. Patients usually present with anemia, leukocytosis, monocytosis, eosinophilia and/or splenomegaly, or systemic symptoms, such as fever, sweating and/or weight loss.
Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement
8p11 myeloproliferative syndrome
Stem cell leukemia/lymphoma
Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement is a rare, malignant, neoplastic disease characterized by clonal proliferation of myeloid and/or lymphoid precursors harboring translocations or insertions involving the chromosome band 8p11 and the FGFR1 gene, in the blood, bone marrow and often other tissues as well (spleen, liver, lymph nodes, breast, etc.). It usually presents as myeloproliferative neoplasm with eosinophilia, T lymphoblastic lymphoma with eosinophilia or, less frequently, acute myeloid leukemia. The presenting signs and symptoms include eosinophilia, leukocytosis with leukemoid reaction, monocytosis, fatigue, sweating, weight loss, lymphadenopathy, splenomegaly and/or hepatomegaly. Extranodal involvement may include the tonsils, lungs and breasts.
Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement
HES
Hypereosinophilic syndrome (HES) constitutes a rare and heterogeneous group of disorders, defined as persistent and marked blood eosinophilia and/or tissue eosinophilia associated with a wide range of clinical manifestations reflecting eosinophil-induced tissue/organ damage.
Hypereosinophilic syndrome
RAEB-t
Refractory anemia with excess blasts in transformation
Composite Hodgkin and non-Hodgkin lymphoma
Composite lymphoma
CLAPO syndrome is a newly described syndrome consisting of capillary malformation of the lower lip (C), lymphatic malformation of the face and neck (L), asymmetry of face and limbs (A) and partial or generalized overgrowth (O).
CLAPO syndrome
Malignant melanoma of the mucosa
Pili annulati
Pili annulati is an isolated, benign hair shaft abnormality, usually presenting after the age of 2 and affecting the hair of the scalp or very rarely beard, axillary, or pubic hair, that is characterized by a banded or speckled appearance due to alternating light bands (corresponding to air-filled cavities within the cortex of the affected hair shafts) and dark bands. The bands have a lifelong duration, may only be detectable under light microscopy, are more apparent in fair-colored hair or with age-related graying, and have no effect on hair growth or fragility in the vast majority of cases.
Ringed hair disease
Cernunnos XLFD
Cernunnos deficiency
Combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome
NHEJ1 deficiency
Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia.
Cernunnos-XLF deficiency
Combined immunodeficiency due to CD3gamma deficiency is an extremely rare genetic combined primary immunodeficiency characterized by a selective partial lymphopenia (T+/-B+NK+) phenotype and decreased CD3 complex resulting in a variable but usually mild clinical presentation ranging from asymptomatic until adulthood to high susceptibility to infections from early infancy with predominant automimmune manifestations.
Combined immunodeficiency due to CD3gamma deficiency
Familial CD8 deficiency
Susceptibility to respiratory infections associated with CD8 alpha chain mutation is a rare primary immunodeficiency due to a defect in adaptive immunity characterized by the absence of CD8+ T cells with normal immunoglobulin and specific antibody titres in blood and susceptibility to recurrent respiratory bacterial and viral infections. Symptom severity range from fatal respiratory insufficiency to mild or asymptomatic phenotypes.
Susceptibility to respiratory infections associated with CD8alpha chain mutation
Immune dysfunction due to T-cell inactivation due to calcium entry defect
deficiency.
Combined immunodeficiency due to CRAC channel dysfunction
FOXN1 deficiency
Severe T-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome
Winged helix deficiency
Alymphoid cystic thymic dysgenesis is a rare, genetic, primary immunodeficiency due to a defect in adaptive immunity characterized by the triad of congenital athymia (resulting in severe T-cell immunodeficiency), congenital alopecia totalis and nail dystrophy. Patients present neonatal or infantile-onset, severe, recurrent, life-threatening infections and low or absent circulating T cells. Additional features reported include erythroderma, lymphoadenopathy, diarrhea and failure to thrive.
Alymphoid cystic thymic dysgenesis
Interleukin-2 receptor alpha chain deficiency
Immunodeficiency due to CD25 deficiency is a rare, genetic, primary immunodeficiency due to a defect in adaptive immunity disorder characterized by severe immunodeficiency, presenting with profound susceptibility to viral, fungal and bacterial infections due to impaired CD25-mediated T-regulatory cell function, in association with severe autoimmune disease, such as alopecia universalis, erythrodermia, and autoimmune thyroiditis and enteropathy.
Immunodeficiency due to CD25 deficiency
Thymoma-immunodeficiency syndrome
Good syndrome, also known as thymoma-immunodeficiency, is a very rare acquired immunodeficiency syndrome characterized by the association of thymoma and combined B-cell and T-cell immunodeficiency of adult onset with increased susceptibility to infections.
Good syndrome
Immunoglobulin heavy chain deficiency
Transient hypogammaglobulinemia of infancy
Neutrophil-specific granule deficiency
Recurrent infection due to specific granule deficiency
Immunodeficiency due to C1, C4, or C2 component complement deficiency
Immunodeficiency due to an early component of complement deficiency
Immunodeficiency due to a classical component pathway complement deficiency is a primary immunodeficiency due to a deficiency in either complement components C1q, C1r, C1s, C2 or C4 characterized by increased susceptibility to bacterial infections, particularly with encapsulated bacteria, and increased risk for autoimmune disease. Most commonly, these include systemic lupus erythematosus (SLE), SLE-like disease, Henoch-Schonlein purpura, polymyositis and arthralgia. Disease severity is variable and dependent on the complement affected.
Immunodeficiency due to a classical component pathway complement deficiency
Immunodeficiency due to C5 to C9 component complement deficiency
Terminal complement pathway deficiency
Immunodeficiency due to a late component of complement deficiency is a primary immunodeficiency due to an anomaly in either complement components C5, C6, C7, C8 or C9 and is typically characterized by meningitis due to often recurrent meningococcal infections. The prognosis is generally favorable.
Immunodeficiency due to a late component of complement deficiency
T-B+ SCID due to IL-7Ralpha deficiency
T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency
T-B+ SCID due to CD45 deficiency
T-B+ severe combined immunodeficiency due to CD45 deficiency
T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta
T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta
Familial scaphocephaly syndrome
AR-CNM
Autosomal recessive centronuclear myopathy (AR-CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.
Autosomal recessive centronuclear myopathy
AD-CNM
Autosomal dominant centronuclear myopathy (AD-CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.
Autosomal dominant centronuclear myopathy
Mosaic trisomy chromosome 1
Trisomy 1 mosaicism
Mosaic trisomy 1
DNA repair defect other than combined T-cell and B-cell immunodeficiencies
Immuno-osseous dysplasia
Immunodeficiency syndrome with autoimmunity
Immune dysregulation disease with immunodeficiency
NADH:ubiquinone oxidoreductase complex assembly factor 5
NADH:ubiquinone oxidoreductase complex assembly factor 6
CFAP111
COMT2
leucine rich transmembrane and O-methyltransferase domain containing
SEN34
SEN34L
tRNA splicing endonuclease subunit 34
MGC2776
SEN2
SEN2L
tRNA splicing endonuclease subunit 2
transmembrane protein 70
Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells
use http://www.orpha.net/ORDO/Orphanet_331223 with label: Hyper-IgE syndrome
OBSOLETE: Autosomal recessive hyper-IgE syndrome
Primary CD59 deficiency is a rare, genetic, hematologic and neurologic disease characterized by chronic, Coombs-negative hemolysis associated with early-onset, relapsing, immune-mediated, inflammatory, axonal or demyelinating, sensory-motor, peripheral polyneuropathy and isolated or recurrent cerebrovascular events (in anterior or posterior circulation).
Primary CD59 deficiency
bacterial infections, resulting from complement factor D deficiency, typically manifesting as recurrent respiratory infections, recurrent meningitis and/or septicemia. Patients typically present fever, purpuric rash, arthralgia, myalgia and undetectable complement factor D plasma concentrations.
Recurrent Neisseria infections due to factor D deficiency
Non-distal duplication 10q
Non-telomeric trisomy 10q
Non-distal trisomy 10q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 10, characterized by mild to moderate developmental delay, postnatal growth retardation, central hypotonia, craniofacial dysmorphism (incl. microcephaly, prominent forehead, flat, thick ear helices, deep-set, small eyes, epicanthus, upturned nose, bow-shaped mouth, highly arched palate, micrognathia), ocular anomalies (e.g. iris coloboma, retinal dysplasia, strabismus), long, slender limbs and skeletal and digital anomalies (scoliosis, poly/syndactyly). Additional features reported include cardiac defects (e.g. septal ventricular defect), anal atresia, and cryptorchidism.
Non-distal trisomy 10q
Idiopathic central precocious puberty
Secondary central precocious puberty
Severe factor IX deficiency
Severe hemophilia B is a form of hemophilia B (see this term) characterized by a large deficiency of factor IX leading to frequent spontaneous hemorrhage and abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction.
Severe hemophilia B
Moderately severe factor IX deficiency
Moderately severe hemophilia B is a form of hemophilia B (see this term) characterized by factor IX deficiency leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction.
Moderately severe hemophilia B
Mild factor IX deficiency
Mild hemophilia B is a form of hemophilia B (see this term) characterized by a small deficiency of factor IX leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction.
Mild hemophilia B
Mosaic trisomy chromosome 12
Trisomy 12 mosaicism
Mosaic trisomy 12 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by developmental or growth delay, short stature, craniofacial dysmorphism (e.g. turricephaly, tall forehead, downslanting palpebral fissures, posteriorly rotated and low set ears, narrow palate), congenital heart defects (e.g. atrial septal defect, patent ductus arteriosus), hypotonia, and pigmentary dysplasia. Scoliosis, hearing loss, facial/body asymmetry, and intellectual disability have also been reported.
Mosaic trisomy 12
Severe factor VIII deficiency
Severe hemophilia A is a form of hemophilia A (see this term) characterized by a large deficiency of factor VIII leading to frequent spontaneous hemorrhage and abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction.
Severe hemophilia A
Moderately severe factor VIII deficiency
Moderately severe hemophilia A is a form of hemophilia A (see this term) characterized by factor VIII deficiency leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction.
Moderately severe hemophilia A
Mild factor VIII deficiency
Mild hemophilia A is a form of hemophilia A (see this term) characterized by a small deficiency of factor VIII leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction.
Mild hemophilia A
Congenital vitamin K-dependent coagulation factors deficiency
VGLUT3
vesicular glutamate transporter 3
solute carrier family 17 member 8
Duplication 12p
Trisomy 12p is an extremely rare chromosomal disorder (over 30 cases reported worldwide) characterized by craniofacial malformations (round face, prominent cheeks, high bulging forehead, broad and flat nasal bridge, short nose with anteverted nostrils, long philtrum, prominent and everted lower lip, low-set ears, abnormally folded helix, protuberant antihelix), postnatal growth retardation, mental and psychomotor retardation, generalized hypotonia, abnormally short wide hands and/or other abnormalities.
Trisomy 12p
GRX5
glutaredoxin 5
T-box 15
CILD9
DIC2
dynein intermediate chain 2
dynein axonemal intermediate chain 2
phosphodiesterase 11A
SPAM
eyes shut homolog (Drosophila)
KIAA0188
phosphatidate phosphatase LPIN1
lipin 1
NTKL-BP1
RAB6-interacting golgin
gerodermia osteodysplastica
golgin, RAB6 interacting
EPM1B
REST/NRSF interacting LIM domain protein
RILP
prickle planar cell polarity protein 1
DERP13
ORF19
Russel-Silver syndrome candidate
dermal papilla derived protein 13
succinyl-CoA:glutarate-CoA transferase
Fatal infantile lactic acidosis with methylmalonic aciduria is a rare neurometabolic disease characterized by infantile onset of severe encephalomyopathy, lactic acidosis and elevated methylmalonic acid urinary excretion. Clinically it manifests with severe psychomotor delay, hypotonia, failure to thrive, feeding difficulties and dystonia. Epilepsy and multiple congenital anomalies may be associated.
Fatal infantile lactic acidosis with methylmalonic aciduria
Familial woolly hair syndrome
Familial wooly hair syndrome
Hereditary woolly hair syndrome
Hereditary wooly hair syndrome
Wooly hair
Woolly hair is a rare congenital abnormality of the structure of the scalp hair marked by extreme kinkiness of the hair.
Woolly hair
Non-distal duplication 13q
Non-telomeric trisomy 13q
Non-distal trisomy 13q is a rare chromosomal anomaly disorder, resulting from the partial duplication of the proximal long arm of chromosome 13, with a highly variable phenotype principally characterized by increased polymorphonuclear leucocyte projections and persistence of fetal hemoglobin, as well as growth and developmental delay and craniofacial dysmorphism (incl. microcephaly, depressed nasal bridge, stubby nose, low-set, malformed ears, cleft lip/palate, micrognathia). Strabismus, clinodactyly and undescended testes in males may also be associated.
Non-distal trisomy 13q
Mosaic trisomy chromosome 14
Trisomy 14 mosaicism
Mosaic trisomy 14 is a rare chromosomal anomaly disorder, with a highly variable phenotype, principally characterized by growth and developmental delay, intellectual disability, body asymmetry/hypotonia, congenital heart defects, genitourinary abnormalities (cryptorchidism, micropenis, large clitoris, labial swelling), and abnormal skin hyperpigmentation. Patients usually present with craniofacial dysmorphism such as microcephaly, abnormal palpebral fissure, hypertelorism, ear abnormalities, broad nose, low-set ears, micro/retro-gnathia, and cleft or highly arched palate.
Mosaic trisomy 14
Distal duplication 14q
Telomeric duplication 14q
Trisomy 14qter
Distal trisomy 14q is a rare, partial duplication of the long arm of chromosome 14 characterized by variable clinical features, most commonly including growth retardation and low birth weight, hypotonia, developmental delay, intellectual disability, short stature, microcephaly, facial dysmorphism (frontal bossing, hypertelorism, bulbous nose, micrognathia, sparse hair and eyebrows), congenital heart defects, spasticity and hyperreflexia.
Distal trisomy 14q
Mosaic trisomy chromosome 15
Trisomy 15 mosaicism
Mosaic trisomy 15 is a rare chromosomal anomaly syndrome principally characterized by intrauterine growth restriction, congenital cardiac anomalies (incl. ventricular and atrial septal defects, patent ductus arteriosus) and craniofacial dysmorphism (incl. hypertelorism, downslanting palpebral fissures, wide nasal bridge). Patients also present brain (e.g. hypoplastic cerebellum, ventricular asymmetry), renal (e.g. small dysplastic kidneys), and/or genital (undescended testis, small penis, hypoplastic labia majora) anomalies. Digital and skin pigmentation abnormalities have also been reported.
Mosaic trisomy 15
Distal duplication 15q
Telomeric duplication 15q
Trisomy 15qter
Distal trisomy 15q
Mosaic trisomy chromosome 16
Trisomy 16 mosaicism
Mosaic trisomy 16 is a rare chromosomal anomaly syndrome with a highly variable phenotype ranging from minor anomalies with normal development to intrauterine growth retardation, abnormal skin pigmentation, craniofacial and body asymmetry, cardiac (e.g. ventricular septal defect) and genital (e.g. hypospadias, cryptorchidism) anomalies, scoliosis and hearing loss to neonatal death. Additional features observed include skeletal malformations (e.g. clino/polydactyly, talipes), mild facial dysmorphism, and developmental delay.
Mosaic trisomy 16
PSC
Primary sclerosing cholangitis (PSC) is a rare, slowly progressive liver disease characterized by inflammation and destruction of the intra- and/or extra-hepatic bile ducts that lead to cholestasis, liver fibrosis, liver cirrhosis and ultimately liver failure.
Primary sclerosing cholangitis
UGRP
glucose-6-phosphatase catalytic subunit 3
Woodhouse-Sakati syndrome
DDB1 and CUL4 associated factor 17
GLUTX
Glut9
URATv1
urate voltage-driven efflux transporter 1
solute carrier family 2 member 9
eS7
ribosomal protein S7
PPP1R135
protein phosphatase 1, regulatory subunit 135
uL18
ribosomal protein L5
60S ribosomal protein L11
L11
uL5
ribosomal protein L11
GIG33
L35A
eL33
ribosomal protein L35a
cblD
methylmalonic aciduria and homocystinuria, cblD type
caveolin 1
CILD10
KTU
PF13
kintoun
dynein axonemal assembly factor 2
HIF prolyl hydroxylase 2
HIFPH2
PHD2
SM-20
ZMYND6
egl-9 family hypoxia inducible factor 1
CMT2C
OTRPC4
TRP12
VR-OAC
VRL-2
VROAC
osmosensitive transient receptor potential channel 4
transient receptor potential cation channel subfamily V member 4
KIAA1119
myosin VB
Mosaic trisomy chromosome 17
Trisomy 17 mosaicism
Mosaic trisomy 17 is a rare chromosomal anomaly syndrome, with a highly variable clinical presentation, mostly characterized by growth delay, intellectual disability, body asymmetry with leg length differentiation, scoliosis, and congenital heart anomalies (e.g. ventricular septal defect). Prenatal ultrasound findings include intrauterine growth retardation, nuchal thickening brain anomalies (e.g. cerebellar hypoplasia), pleural effusion and single umbilical artery. Patients with no associated malformations have also been reported.
Mosaic trisomy 17
High anorectal malformation is a rare, genetic, non-syndromic subtype of anorectal malformation, resulting from a developmental defect during embryogenesis, characterized by a wide spectrum of anorectal anomalies, with or without a rectourogenital fistula, located above the pubococcygeal line (i.e. anorectal agenesis, rectal agenesis, atresia, or stenosis). Patients may present with meconuria, pyuria, strangury, and fecal and urinary incontinence.
High anorectal malformation
Intermediate anorectal malformation is a rare, genetic, non-syndromic subtype of anorectal malformation, resulting from a developmental defect during embryogenesis, characterized by a wide spectrum of anorectal anomalies lying between the pubococcygeal line and the ischial tuberosity (e.g., rectovestibular and rectovaginal fistulas in the female, rectobulbar fistula in the male, and anal agenesis). Patients may present with failure to pass meconium, failure to thrive, and recurrent urinary tract infections.
Intermediate anorectal malformation
Low anorectal malformation is a rare, genetic, non-syndromic subtype of anorectal malformation, resulting from a developmental defect during embryogenesis, characterized by a wide spectrum of anorectal anomalies lying below the ischial tuberosity (e.g., anovestibular fistula in female, perineal and anocutaneous fistulas, and anal stenosis). Patients may present with failure to pass meconium, failure to thrive, and chronic constipation.
Low anorectal malformation
Rectal duplication is a rare congenital anorectal malformation characterized by an egg-like, cystic, mucus-filled mass, composed of intestinal mucosal lining and smooth muscle tissue. Commonly it presents in childhood with symptoms of recurrent urinary tract infections, gastroenteritis, obstruction, perianal sepsis and rectal bleeding. Drainage of mucus or pus from the anus is also a typical presenting sign. The majority are found in the retro-rectal space where they communicate with, or are contiguous to, the rectum.
Rectal duplication
Potocki-Lupski syndrome
Trisomy 17p11.2
17p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 17, typically characterized by hypotonia, poor feeding, failure to thrive, developmental delay (particularly cognitive and language deficits), mild-moderate intellectual deficit, and neuropsychiatric disorders (behavioral problems, anxiety, attention deficit hyperactivity disorder, autistic spectrum disorder, bipolar disorder). Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance (obstructive and central sleep apnea) are also frequently associated.
17p11.2 microduplication syndrome
Severe congenital nemaline myopathy is a severe form of nemaline myopathy (NM; see this term) characterized by severe hypotonia with little spontaneous movement in neonates.
Severe congenital nemaline myopathy
Intermediate nemaline myopathy is a type of nemaline myopathy (NM; see this term) that shows features of typical NM (see this term) in neonates with a more severe progression.
Intermediate nemaline myopathy
Typical nemaline myopathy is a moderate neonatal form of nemaline myopathy (NM; see this term) characterized by facial and skeletal muscle weakness and mild respiratory involvement.
Typical nemaline myopathy
Mild nemaline myopathy
Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy (NM; see this terms) characterized by distal muscle weakness, and sometimes slowness of muscle contraction.
Childhood-onset nemaline myopathy
Adult-onset nemaline myopathy is a rapidly progressive type of nemaline myopathy (NM; see this term) characterized by a very late onset.
Adult-onset nemaline myopathy
Muscle filaminopathy is a rare myofibrillar myopathy characterized by slowly progressive, proximal skeletal muscle weakness, which is initially more prominent in lower extremities and involves upper extremities with disease progression. Patients present with difficulty climbing stairs, a waddling gait, marked winging of scapula, lower back pain, paresis of limb girdle musculature, hypo-/areflexia and/or mild facial muscle weakness in rare cases. Respiratory muscle weakness is common and cardiac anomalies (conduction blocks, tachycardia, diastolic dysfunction, left ventricular hypertrophy) have been reported in some cases.
Muscle filaminopathy
Duplication 18p
Duplication of the short arm of chromosome 18
Trisomy of the short arm of chromosome 18
Trisomy 18p is an extremely rare chromosomal anomaly with a poorly defined clinical phenotype. Reported manifestations include short stature, mild, moderate or severe developmental delay and intellectual disability, variable but mild facial dysmorphism, and epilepsy.
Trisomy 18p
Distal duplication 18q
Telomeric duplication 18q
Trisomy 18qter
Distal trisomy 18q is a rare, partial autosomal trisomy characterized by a variable phenotype that includes hypotonia, motor delay, mild to severe intellectual disability, seizures, variable cerebral anomalies, finger/toe syndactyly, fifth finger clinodactyly, strabismus, short neck and dysmorphic facial features.
Distal trisomy 18q
SPG34
X-linked spastic paraplegia type 34 is a pure form of hereditary spastic paraplegia characterized by late childhood- to early adulthood-onset of slowly progressive spastic paraplegia with spastic gait and lower limb hyperreflexia, brisk tendon reflexes and ankle clonus. Lower limb pain and reduced lower limb vibratory sense is also reported in some older adult patients.
X-linked spastic paraplegia type 34
SPG37
Autosomal dominant spastic paraplegia type 37 is a pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive spastic gait, extensor plantar responses, brisk tendon reflexes in arms and legs, decreased vibration sense at ankles and urinary dysfunction. Ankle clonus is also reported in some patients.
Autosomal dominant spastic paraplegia type 37
SPG38
Autosomal dominant spastic paraplegia type 38
SPG32
Autosomal recessive spastic paraplegia type 32 (SPG32) is a rare, complex type of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with walking difficulties appearing at onset at 6-7 years of age) associated with mild intellectual disability. Brain imaging reveals thin corpus callosum, cortical and cerebellar atrophy, and pontine dysraphia. The SPG32 phenotype has been mapped to a locus on chromosome 14q12-q21.
Autosomal recessive spastic paraplegia type 32
SPG35
Autosomal recessive spastic paraplegia type 35 is a rare form of hereditary spastic paraplegia characterized by childhood (exceptionally adolescent) onset of a complex phenotype presenting with lower limb (followed by upper limb) spasticity with hyperreflexia and extensor plantar responses, with additional manifestations including progressive dysarthria, dystonia, mild cognitive decline, extrapyramidal features, optic atrophy and seizures. White matter abnormalities and brain iron accumulation have also been observed on brain magnetic resonance imaging.
Autosomal recessive spastic paraplegia type 35
AF-4
AF4
AF4/FMR2 family member 1
E2A
E2A immunoglobulin enhancer-binding factor E12/E47
E47
ITF1
VDIR
VDR interacting repressor
bHLHb21
immunoglobulin transcription factor 1
kappa-E2-binding factor
p75
transcription factor E2-alpha
transcription factor 3
PBX homeobox 1
MCPH7
STIL, centriolar assembly protein
PEBP2B
core-binding factor subunit beta
CDR
ETO
MTG8
ZMYND2
RUNX1 translocation partner 1
Lissencephaly (LIS) due to TUBA1A mutation is a congenital cortical development anomaly due to abnormal neuronal migration involving neocortical and hippocampal lamination, corpus callosum, cerebellum and brainstem. A large clinical spectrum can be observed, from children with severe epilepsy and intellectual and motor deficit to cases with severe cerebral dysgenesis in the antenatal period leading to pregnancy termination due to the severity of the prognosis.
Lissencephaly due to TUBA1A mutation
Idiopathic bilateral vestibulopathy is a rare otorhinolaryngologic disease characterized by dysfunction of both peripheral labyrinths or of the eighth cranial nerves, which presents with persistent unsteadiness of gait (particularly in darkness, during eye closure or under impaired visual conditions, or when standing/walking on uneven, soft or wobbly ground) and oscillopsia associated with head movements. The disease may be progressive, presenting no episodes of vertigo, or sequential, presenting recurrent episodes of vertigo.
Idiopathic bilateral vestibulopathy
Erythrocyte lactate transporter defect
Metabolic myopathy due to lactate transporter defect is a rare metabolic myopathy characterized by muscle cramping and/or stiffness after exercise (especially during heat exposure), post-exertional rhabdomyolysis and myoglobinuria, and elevation of serum creatine kinase.
Metabolic myopathy due to lactate transporter defect
Pallidopyramidal syndrome
Parkinsonian-pyramidal syndrome is a rare, genetic, neurological disorder characterized by the association of both parkinsonian (i.e. bradykinesia, rigidity and/or rest tremor) and pyramidal (i.e. increased reflexes, extensor plantar reflexes, pyramidal weakness or spasticity) manifestations, which vary according to the underlying associated disease (e.g. neurodegenerative disease, inborn errors of metabolism).
Parkinsonian-pyramidal syndrome
Distal duplication 19q
Telomeric duplication 19q
Trisomy 19qter
Distal trisomy 19q is a rare chromosomal anomaly syndrome characterized by low birth weight, developmental delay, intellectual disability, short stature, craniofacial dysmorphism (incl. microcephaly, midface hypoplasia, hypertelorism, flat nasal bridge, ear anomalies, short philtrum, downturned corners of the mouth, micrognathia) and a short neck with redundant skin folds. Additional features may include hypotonia, skeletal anomalies (e.g. clino/camptodactyly), seizures and congenital cardiac, urogenital and gastrointestinal malformations.
Distal trisomy 19q
Diffuse panbronchiolitis is a rare chronic inflammatory obstructive pulmonary disease primarily affecting the respiratory bronchioles throughout both lungs and inducing sinobronchial infection. Onset occurs in the second to fifth decade of life and manifests by chronic cough, exertional dyspnea, and sputum production. Most patients also have chronic paranasal sinusitis
Diffuse panbronchiolitis
Microcephaly-polymicrogyria-corpus callosum agenesis syndrome is a rare, genetic, central nervous system malformation syndrome characterized by marked prenatal-onset microcephaly, severe motor delay with hypotonia, bilateral polymicrogyria, corpus callosum agenesis, ventricular dilation, small cerebellum and early lethality.
Microcephaly-polymicrogyria-corpus callosum agenesis syndrome
Short stature-delayed bone age due to thyroid hormone metabolism deficiency is a rare, genetic congenital hypothyroidism disorder characterized by mild global developmental delay in childhood, short stature, delayed bone age, and abnormal thyroid and selenium levels in serum (high total and free T4 concentrations, low T3, high reverse T3, normal to high TSH, decreased selenium). Intellectual disability, primary infertility, hypotonia, muscle weakness, and impaired hearing have also been reported.
Short stature-delayed bone age due to thyroid hormone metabolism deficiency
Male infertility due to round-headed spermatozoa
Round-headed sperm syndrome
Male infertility due to globozoospermia is a male infertility due to sperm disorder characterized by the presence, in sperm, of a large majority of round-headed spermatozoa that lack the acrosome and have an aberrant nuclear membrane and midpiece defects. The acrosomeless spermatozoa is not able to penetrate the zona pellucida and thus fertilization failures, even with intracytoplasmic spem injection, are frequent.
Male infertility due to globozoospermia
Infantile-onset symptomatic epilepsy syndrome-developmental stagnation-blindness syndrome
Amish infantile epilepsy syndrome
Cutis laxa-Marfanoid syndrome
Hereditary mucosal leukokeratosis
White sponge nevus of Cannon
White sponge nevus (WSN) is a rare and autosomal dominant genetic disease in which the oral mucosa is white or greyish, thickened, folded, and spongy. The onset is early in life, and both sexes are affected equally. Other common sites include the tongue, floor of the mouth, and alveolar mucosa.
White sponge nevus
Del(6)(q16)
Monosomy 6q16
Prader-Willi-like syndrome due to deletion 6q16
Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay.
6q16 deletion syndrome
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_1031 with label: Enamel-renal syndrome
Amelogenesis imperfecta-gingival hyperplasia syndrome
Berant syndrome
Capra-DeMarco syndrome
Familial scaphocephaly-radioulnar synostosis syndrome
Capra-DeMarco syndrome is characterized by sagittal craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis. Other clinical findings include blepharophimosis, small low-set ears, hypoplastic philtrum, kidney malformation, and hypogenitalism.
Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome
This syndrome associates progressive visual loss with scoliosis or kyphoscoliosis and arachnodactyly of the fingers and toes.
Blindness-scoliosis-arachnodactyly syndrome
PHARC syndrome
Peripheral neuropathy, Fiskerstrand type
Fiskerstrand type peripheral neuropathy is a slowly-progressive Refsum-like disorder associating signs of peripheral neuropathy with late-onset hearing loss, cataract and pigmentary retinopathy that become evident during the third decade of life.
Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome
Intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome
MEDNIK syndrome, previously known as Erythrokeratodermia Variabilis type 3 (EKV3), is characterized by intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis, and keratodermia (MEDNIK stands for Mental retardation, Enteropathy, Deafness, peripheral Neuropathy, Ichtyosis, Keratodermia).
MEDNIK syndrome
This syndrome is characterized by severe intellectual deficit, kyphosis with onset in childhood and cataract with onset in late adolescence.
Intellectual disability-cataracts-kyphosis syndrome
SPG42
Autosomal dominant spastic paraplegia type 42 is a pure form of hereditary spastic paraplegia characterized by slowly progressive spastic paraplegia of lower extremities with an age of onset ranging from childhood to adulthood and patients presenting with spastic gait, increased tendon reflexes in lower limbs, extensor plantar response, weakness and atrophy of lower limb muscles and, in rare cases, pes cavus. No abnormalities are noted on magnetic resonance imaging.
Autosomal dominant spastic paraplegia type 42
SEMD, aggrecan type
Spondyloepimetaphyseal dysplasia, aggrecan type is a new form of skeletal dysplasia characterized by severe short stature, facial dysmorphism and characteristic radiographic findings.
Spondyloepimetaphyseal dysplasia, aggrecan type
Autosomal dominant pseudohypoaldosteronism type 1
Renal pseudohypoaldosteronism type 1 (renal PHA1) is a mild form of primary mineralocorticoid resistance restricted to the kidney.
Renal pseudohypoaldosteronism type 1
Autosomal recessive pseudohypoaldosteronism type 1
Generalized pseudohypoaldosteronism type 1 (generalized PHA1) is a severe form of primary mineralocorticoid resistance with systemic involvement and salt loss in multiple organs.
Generalized pseudohypoaldosteronism type 1
Cap disease
Cap myopathy is a very rare congenital myopathy presenting a weakness of facial and respiratory muscles associated with craniofacial and thoracic deformities, as well as weakness of limb proximal and distal muscles. Onset is at birth or in childhood, weakness progression is slow but may lead to a severe and even fatal prognosis.
Cap myopathy
Cylindrical spirals myopathy is a rare form of congenital myopathy characterized by global muscle weakness, hypotonia, myotonia and cramps in the presence of cylindrical, spiral-shaped inclusions (located in the central and/or subsacrolemmal areas of muscle fibers) in skeletal muscle biopsy. Abnormal gait, scoliosis, epileptic encephalopathy and psychomotor delay may be associated.
Cylindrical spirals myopathy
Myopathy with hexagonally cross-linked tubular arrays is a rare, congenital, non-dystrophic, mild, slowly progressive, proximal myopathy characterized by exercise intolerance and post-exercise myalgia without rhabdomyolysis, associated with highly organized hexagonally cross-linked tubular arrays in skeletal muscle biopsy. Additional features may include muscle atrophy (or diffuse hypotrophy), myalgia with or without musclar weakness, paresis of truncal and limb-girdle musculature, minimal ptosis, lumbar hyperlordosis, decreased deep tendon reflexes, contractures and pes equinovarus.
Myopathy with hexagonally cross-linked tubular arrays
Myeloid hemopathy
Lymphoid hemopathy
Primary cutaneous T-cell lymphoma
B-cell NHL
B-cell non-Hodgkin lymphoma
T-cell NHL
T-cell non-Hodgkin lymphoma
Trisomy 10p is a syndrome of mental retardation/multiple congenital malformations (MR-MCA) that is caused by the total or partial duplication of the short arm of chromosome 10.
Trisomy 10p
Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin.
Progressive familial intrahepatic cholestasis
Mosaic trisomy chromosome 2
Trisomy 2 mosaicism
Mosaic trisomy 2 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by intrauterine growth restriction, growth and motor delay, craniofacial dysmorphism (e.g. microcephaly, hypertelorism, micro/anophthalmia, midface hypoplasia, cleft lip/palate), congenital heart and neural tube defects, as well as various skeletal (e.g. scoliosis, radioulnar hypoplasia, preaxial polydactyly) and gastrointestinal (e.g. intestinal malrotation, Hirschsprung disease) anomalies. Central nervous system malformations (including ventriculomegaly, thin corpus callosum, spina bifida) have also been reported.
Mosaic trisomy 2
Mosaic trisomy chromosome 20
Trisomy 20 mosaicism
Mosaic trisomy 20 is a rare chromosomal anomaly syndrome with a highly variable phenotype ranging from normal (in the majority of cases) to a mild, subtle phenotype principally characterized by spinal abnormalities (i.e. stenosis, vertebral fusion, and kyphosis), hypotonia, lifelong constipation, sloped shoulders, skin pigmentation abnormalities (i.e. linear and whorled nevoid hypermelanosis) and significant learning disabilities despite normal intelligence. More severe phenotypes, with patients presenting psychomotor and speech delay, mild facial dysmorphism, cardiac (i.e. ventricular septal defect, dysplastic tricuspid mitral valve) and renal anomalies (e.g. horseshoe kidneys), have also been reported.
Mosaic trisomy 20
Dup(22)(q11)
Duplication 22q11.2
Trisomy 22q11.2
The newly described 22q11.2 microduplication syndrome (dup22q11 syndrome) is the association of a broad clinical spectrum and a duplication of the region that is deleted in patients with DiGeorge or velocardiofacial syndrome (DG/VCFS; see this term), establishing a complementary duplication syndrome.
22q11.2 microduplication syndrome
Congenital myopathy with cores
FRAXF
transmembrane protein 185A
, characterized by massive watery diarrhea and severe dehydration that can lead to shock and death if left untreated.
Cholera
ENT3
solute carrier family 29 member 3
AIGF
androgen-induced growth factor
fibroblast growth factor 8
EF-TS
EF-Tsmt
Ts translation elongation factor, mitochondrial
CIRHIN
KIAA1988
NAIC
TEX292
UTP4, small subunit (SSU) processome component, homolog (yeast)
UTP4, small subunit processome component
6-phosphogluconolactonase
GDH/6PGL endoplasmic bifunctional protein
hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase
SDR26C1
short chain dehydrogenase/reductase family 26C, member 1
hydroxysteroid 11-beta dehydrogenase 1
TSPY like 1
MAT
MATA1
S-adenosylmethionine synthetase
SAMS
SAMS1
methionine adenosyltransferase 1A
ENTK
enteropeptidase
proenterokinase
transmembrane serine protease 15
Zfp750
zinc finger protein 750
FETA
alpha fetoprotein
CYC
cytochrome c, somatic
PAT2
TRAMD1
tramdorin
solute carrier family 36 member 2
XT3
Xtrp3
solute carrier family 6 member 20
Xtrp2
solute carrier family 6 member 18
Adenomatous polyposis coli membrane recruitment 1
WTX
Wilms Tumor on the X
APC membrane recruitment protein 1
adenylate kinase 2
ADANE
NUP358
nucleoporin 358
RAN binding protein 2
TKT
discoidin domain receptor tyrosine kinase 2
KIAA1381
component of oligomeric golgi complex 1
cblF
LMBR1 domain containing 1
Duplication 4p
Duplication of the short arm of chromosome 4
Trisomy of the short arm of chromosome 4
Trisomy 4p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 4, with a highly variable phenotype, typically characterized by pre- and postnatal growth delay, psychomotor developmental delay and craniofacial dysmorphism (microcephaly, prominent glabelle, hypertelorism, enlarged ears with abnormal helix and antihelix, bulbous nose with flat or depressed nasal bridge, long philtrum, retrognathia with pointed chin). Additional features include skeletal (rocker bottom feet, arachnodactyly, camptodactyly) and renal malformations, cardiac defects, ocular abnormalities and abnormal genitalia in males.
Trisomy 4p
use http://www.orpha.net/ORDO/Orphanet_262860 with label: Partial duplication of the long arm of chromosome 4
Schmid metaphyseal chondrodysplasia is a rare disorder characterized by moderately short stature with short limbs, coxa vara, bowlegs and an abnormal gait.
Metaphyseal chondrodysplasia, Schmid type
Duplication 5p
Duplication of the short arm of chromosome 5
Trisomy of the short arm of chromosome 5
Trisomy 5p is a chromosomal abnormality resulting from the duplication of a segment of variable size of the short arm of chromosome 5, which usually involves the distal band 5p15. The clinical presentation is variable but is always associated with severe intellectual deficit.
Trisomy 5p
Distal duplication 6p
Telomeric duplication 6p
Trisomy 6pter
Distal trisomy of the short arm of chromosome 6 is characterized by pre- and postnatal growth retardation, a pattern of specific facial features (mostly of the eyes), microcephaly, and developmental delay.
Distal trisomy 6p
Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder of sexual maturation characterized by gonadotropin (Gn) deficiency with low sex steroid levels associated with low levels of follicle stimulating hormone (FSH) and luteinizing hormone (LH).
Congenital hypogonadotropic hypogonadism
Mosaic trisomy chromosome 7
Trisomy 7 mosaicism
Mosaic trisomy 7 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, mostly characterized by blaschkolinear skin pigmentary dysplasia, body asymmetry, enamel dysplasia, and developmental and growth delay. Intellectual disability, facial dysmorphism (e.g. frontal bossing, abnormal palpebral fissures, strabismus, abnormally shaped ears, and micrognathia), and genital anomalies (e.g. undescended testes) have also been observed. It has been reported to be associated with maternal uniparental disomy of chromosome 7, resulting in a Silver-Russell syndrome phenotype. Cases with no associated malformations have also been reported.
Mosaic trisomy 7
Autosomal recessive metaphyseal chondrodysplasia
Metaphyseal chondrodysplasia, McKusick type
Cartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth.
Cartilage-hair hypoplasia
Duplication 8q
Trisomy 8q is a very rare disorder characterized by duplication of the long arm of chromosome 8. The most commonly associated abnormalities include low birth weight, craniofacial abnormalities (prominent forehead, flat occiput, hypertelorism, upslanting palpebral fissures, ear and nose deformities, thin upper lips), congenital heart defects, skeletal defects, psychomotor retardation. Phenotypic features vary in relation to the duplication size.
Trisomy 8q
Dipygus
Split notochord syndrome
Caudal duplication (CD) is a rare developmental anomaly in which structures derived from the embryonic cloaca and notochord are duplicated to varying extents.
Caudal duplication
Leg duplication-mirror foot syndrome
Fibular dimelia-diplopodia syndrome is a rare developmental anomaly.
Fibular dimelia-diplopodia syndrome
Thoraco-abdominal enteric duplication is a rare, syndromic intestinal malformation characterized by single or multiple smooth-walled, often tubular, cystic lesions, which on occasion contain ectopic gastric mucosa, located in the thorax (usually in the posterior mediastinum and to the right of the midline) and in the abdomen. Infants usually present with respiratory distress and older patients with heartburn, abdominal pain, vomiting and/or malena. Vertebral anomalies in the lower cervical spine, with CNS involvement, are frequently present and complications, such as bowel obstruction, perforation and intussusception, have also been reported.
Thoraco-abdominal enteric duplication
Nonrhizomelic chondrodysplasia punctata is a form of chondrodysplasia punctata (see this term), a group of diseases in which the common characteristic is bone calcifications near joints from birth. Nonrhizomelic chondrodysplasia punctata is not an entity in itself but covers several diseases with variable clinical findings and modes of transmission.
Non-rhizomelic chondrodysplasia punctata
Distal duplication Xq
Telomeric duplication Xq
Distal Xq duplications refer to chromosomal disorders resulting from involvement of the long arm of the X chromosome (Xq). Clinical manifestations vary widely depending on the gender of the patient and on the gene content of the duplicated segment. The prevalence of Xq duplications remains unknown.
Trisomy Xq28
RP46
isocitrate dehydrogenase 3 (NAD(+)) beta
HSAN3
Hereditary sensory and autonomic neuropathy type 3
Hereditary sensory and autonomic neuropathy type III
Riley-Day syndrome
Hereditary sensory and autonomic neuropathy, type 3 (HSAN3) is an inherited disorder characterized by sensory dysfunction and severe impairment of the autonomic nervous system activity, resulting in multisystem dysfunction.
Familial dysautonomia
Dyschondrosteosis - nephritis is characterized by the association of short stature due to mesomelic shortening of the limbs and Madelung deformity (see this term), with hereditary nephritis.
Dyschondrosteosis-nephritis syndrome
CAMRQ syndrome
Cerebellar ataxia-intellectual disability-dysequilibrium syndrome syndrome
Non-progressive cerebellar ataxia-intellectual disability syndrome
Dysequilibrium syndrome (DES) is a non-progressive cerebellar disorder characterized by ataxia associated with an intellectual disability, delayed ambulation and cerebellar hypoplasia.
Dysequilibrium syndrome
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_90635 with label: Autosomal dominant non-syndromic sensorineural deafness type DFNA
Familial progressive vestibulocochlear dysfunction
Rudd-Klimek syndrome
Familial caudal dysgenesis is a rare, genetic, developmental defect during embryogenesis disorder characterized by varying degrees of caudal dysgenesis, ranging from a single umbilical artery or imperforate anus to full sirenomelia, in several members of the same family. Phenotype includes lumbosacral agenesis, anal atresia or ectopia, genitourinary abnormalities, components of VATER or VACTERL association, and facial dysmorphism (flat facies, abnormal ears, bilateral epicanthic folds, depressed nasal bridge, micrognathia). Additional features reported include cardiovascular (e.g. endocardial cushion defect, hypoplasia of pulmonary artery) and skeletal (kyphosis, hemipelvis) anomalies.
Familial caudal dysgenesis
RCDP
Rhizomelic chondrodysplasia is a form chondrodysplasia punctata (see this term), a group of diseases in which the common characteristic is calcifications near joints at birth.
Rhizomelic chondrodysplasia punctata
Gonadal dysgenesis with multiple anomalies is an association syndrome described only once in two sisters aged 1 1/2 and 8 1/2 years. They had a 46,XY karyotype, cleft lip and palate, preauricular pits, and a 'squashed down' appearance because of a short columella and small nares. Other anomalies included broad hands and feet, and a hypermuscular appearance. Cardiac, renal, musculoskeletal, and ectodermal anomalies were also present. Ectodermal defects included 'punched out scalp defects' and unusual positioning of hair whorls. They also had short stature, streak gonads, and mild developmental delay. The mode of inheritance is most likely autosomal recessive.
XY type gonadal dysgenesis-associated anomalies syndrome
Rare adult hypothyroidism
Syndromic hypothyroidism
45,X/46,XY MGD
45,X0/46,XY MGD
45,X0/46,XY mixed gonadal dysgenesis
45,X/46,XY mixed gonadal dysgenesis (45,X/46,XY MGD) is a disorder of sex development (DSD) associated with a numerical sex chromosome abnormality resulting from Y-chromosome mosaicism and leading to abnormal gonadal development.
45,X/46,XY mixed gonadal dysgenesis
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_3027 with label: Caudal regression sequence
DKC
Zinsser-Engman-Cole syndrome
Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer.
Dyskeratosis congenita
Craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome
Temtamy-Shalash syndrome
Temtamy syndrome is a very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
Temtamy syndrome
Seaver-Cassidy syndrome
Facial dysmorphism-shawl scrotum-joint laxity syndrome is characterised by facial dysmorphism (hypertelorism, telecanthus, downslanting palpebral fissures, ptosis, malar hypoplasia, broad nasal bridge, thin upper lip, smooth philtrum, and low-set prominent ears) and associated with joint anomalies (genu valgum or cubitus valgus, hyper-extensible joints, etc.). It has been described in two patients (a mother and her son). The boy also had hypoplastic shawl scrotum and cryptorchidism, and the mother had mild intellectual deficit.
Facial dysmorphism-shawl scrotum-joint laxity syndrome
, severe scoliosis, hypoplastic scrotum, and mixed hearing loss.
Dysmorphism-cleft palate-loose skin syndrome
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
Prader-Willi syndrome due to translocation
Prader-Willi syndrome due to imprinting mutation
gene (Xq28), encoding coagulation factor VIII.
Symptomatic form of hemophilia A in female carriers
gene (Xq28), encoding coagulation factor IX.
Symptomatic form of hemophilia B in female carriers
Notochordal sarcoma
Chordomas are rare malignant tumors arising from embryonic remnants of the notochord in axial skeleton.
Chordoma
Dysmorphism-multiple structural anomalies syndrome
Thakker-Donnai syndrome is a rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (including long, downward slanting palpebral fissures, hypertelorism, posteriorly rotated ears, broad nasal bridge, short nose with a bulbous tip and anteverted nares, downturned corners of the mouth) as well as vertebral (occult spina bifida, hemivertebrae), brain (ventricular dilatation, agenesis of corpus callosum), cardiac (teralogy of Fallot, ventricular septal defect) and gastrointestinal (short esophagus with intrathoracic stomach, small intestine, spleen and pancreas, anal atresia) malformations. There have been no further descriptions in the literature since 1991.
Thakker-Donnai syndrome
Non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations
CDI
Neurogenic diabetes insipidus
Central diabetes insipidus (CDI) is a hypothalamus-pituitary disease characterized by polyuria and polydipsia due to a vasopressin (AVP) deficiency. It can be inherited or acquired (hereditary CDI and acquired CDI; see these terms).
Central diabetes insipidus
Peripheral precocious puberty
Transient congenital hypothyroidism
CILD12
radial spoke head 9 homolog
CILD11
RSPH6B
radial spoke head 4 homolog A
AP-1 complex subunit sigma-1A
AP19
HA1 19 kDa subunit
SIGMA1A
clathrin assembly protein complex 1 sigma-1A small chain
clathrin coat assembly protein AP19
clathrin-associated/assembly/adaptor protein, small 1 (19kD)
golgi adaptor HA1/AP1 adaptin sigma-1A subunit
sigma1A subunit of AP-1 clathrin adaptor complex
sigma1A-adaptin
adaptor related protein complex 1 subunit sigma 1
FAAH
fatty acid hydroxylase
fatty acid 2-hydroxylase
Moderate multiminicore disease with hand involvement
Antenatal multiminicore disease with arthrogryposis multiplex congenita
Dysosteosclerosis is a skeletal dysplasia characterized by progressive osteosclerosis and platyspondyly.
Dysosteosclerosis
Monosomy 8q22.1
Nablus mask-like facial syndrome
The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome is a rare microdeletion syndrome associated with a distinct facial appearance.
8q22.1 microdeletion syndrome
RAK
Reticulate acropigmentation of Kitamura
Isolated SCCH
Isolated sternocostoclavicular hyperostosis is a rare rheumatologic disease characterized by predominantly bilateral, chronic, sterile inflammation and progressive sclerosis and hyperostosis of the sternocostoclavicular joint, with adjacent soft tissue ossification, in the absence of other joint involvement. It presents as recurrent episodes of pain, edema and/or erythema of the sternoclavicular region. Palmoplantar pustulosis may be additionally observed in some cases.
Isolated sternocostoclavicular hyperostosis
Embryonal sarcoma of the liver
UES
Undifferentiated sarcoma of the liver
Embryonal sarcoma of the liver is a rare primary malignant hepatic neoplasm of childhood of mesenchymal origin. It can rarely occur in adults. It is characterized by abdominal mass, right upper quadrant or epigastric pain, nausea, anorexia, intermittent fever or headache.
Undifferentiated embryonal sarcoma of the liver
Acute lung injury
Heinz body anemia
AIED
Forsius-Eriksson syndrome
Forsius-Eriksson type ocular albinism
Aland Island Eye Disease (AIED) is an X-linked recessive retinal disease characterized by fundus hypopigmentation, decrased visual acuity, nystagmus, astigmatism, progressive axial myopia, defective dark adaptation and protanopia.
Åland Islands eye disease
UV-sensitive syndrome
Inflammatory myofibroblastic tumor is a rare neoplastic lesion of the submucosal stroma, which can develop in any organ, often occurring in the lung, mesentery, omentum and the retroperitoneal region. It is histologically heterogenous, composed of spindle-shaped cells, myofibroblasts and inflammatory cells. It is usually benign, however local invasion, recurrence, malignant transformation with vascular invasion and metastases may occur. The presentation is nonspecific and depends on the organ involved. Some patients may present with paraneoplastic syndrome (fever, malaise, weight loss, anemia, thrombocytosis) or symptoms related to compression of adjacent organs, such as bowel obstruction.
Inflammatory myofibroblastic tumor
AEXS
Familial hyperestrogenism
Hereditary prepubertal gynecomastia
Aromatase excess syndrome is a rare, genetic endocrine disease characterized by increased levels of estrogen due to elevated extraglandular aromatase activity. Males present with heterosexual precocious puberty which manifests with pre- or peripubertal onset of gynecomastia, premature growth spurt, accelerated bone maturation resulting in decreased adult stature, and may present mild hypogonadotropic hypogonadism. Female patients may have isosexual precocious puberty or not have any manifestations at all.
Aromatase excess syndrome
Smith-McCort dysplasia (SMC) is a rare spondylo-epi-metaphyseal dysplasia characterized by the clinical manifestations of coarse facies, short neck, short trunk dwarfism with barrel-shaped chest and rhizomelic limb shortening, as well as specific radiological features (i.e. generalized platyspondyly with double-humped vertebral end plates and iliac crests with a lace-like appearance) and normal intelligence. The clinical and skeletal features are similar to those seen in the allelic disorder Dyggve-Melchior-Clausen syndrome (DMC; see this term), but can be distinguished from this syndrome by the absence of intellectual deficiency and microcephaly in SMC.
Smith-McCort dysplasia
MCOPS5
Syndromic microphthalmia/anophthalmia due to OTX2 mutation
Syndromic microphthalmia, type 5 is characterized by the association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations.
Syndromic microphthalmia type 5
This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis (see this term).
Osteosclerosis-developmental delay-craniosynostosis syndrome
Congenital convex foot
Congenital convex pes valgus
Congenital rocker-bottom foot
Isolated congenital vertical talus (CVT) is a rare pedal deformity recognizable at birth by a dislocation of the talonavicular joint, resulting in a characteristic radiographic near-vertical orientation of the talus.
Congenital vertical talus
Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia
Autosomal recessive osteopetrosis type 7
Osteopetrosis-hypogammaglobulinemia syndrome is an extremely rare primary bone dysplasia with increased bone density disorder characterized by severe osteoclast-poor osteopetrosis associated with hypogammaglobulinemia. Patients typically present infantile malignant osteopetrosis (manifesting with increased bone density, bone fractures, abnormal eye movements/visual loss, nystagmus), hematologic abnormalities with bone marrow failure (e.g. anemia, hepatosplenomegaly) and immunological deficiency (manifesting as recurrent respiratory infections) associated with reduced immunoglobulin levels due to impaired peripheral B cell differentiation.
Osteopetrosis-hypogammaglobulinemia syndrome
Hemorrhagic disease due to alpha-1-antitrypsin Pittsburg mutation is a rare, genetic, constitutional coagulation factor defect disorder characterized by a bleeding tendancy of variable severity due to methionine 358 to arginine replacement (Pittsburgh mutation) in the alpha-1-antitrypsin protein. Patients present with spontaneous hematomas, hematomas following minor trauma or surgery and, in female patients, ovarian hematomas after ovulation.
Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation
Richieri-Costa-Colletto syndrome
Acro-fronto-facio-nasal dysostosis is a congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies.
Acrofrontofacionasal dysostosis
Distal anterior compartment myopathy
Distal myopathy with anterior tibial onset is a rare, genetic neuromuscular disease characterized by a progressive muscle weakness starting in the anterior tibial muscles, later involving lower and upper limb muscles, associated with an increased serum creatine kinase levels and absence of dysferlin on muscle biopsy. Patients become wheelchair dependent.
Distal myopathy with anterior tibial onset
X-linked myopathy with postural muscle atrophy is a rare progressive muscular dystrophy characterized by an adult-onset scapulo-axio-peroneal myopathy. Clinical presentation includes shoulder girdle atrophy, scapular winging, axial muscular atrophy of postural muscles combined with a generalized hypertrophy. Typically, neck rigidity, rigid spine, Achilles tendon shortening, and respiratory insufficiency later in disease course are present.
X-linked myopathy with postural muscle atrophy
ADMERF
Edström Myopathy
HIBM-ERF
HMERF
Hereditary inclusion body myopathy with early respiratory failure
Myofibrillar myopathy with early respiratory failure
Hereditary proximal myopathy with early respiratory failure
Autosomal dominant non-syndromic intellectual disability
Cutaneous infectious botulism
Cutaneous toxin-mediated botulism
Inoculation botulism
Skin infectious botulism
Skin toxin-mediated botulism
Wound botulism
Infant intestinal botulism
Infant intestinal toxemia botulism
Infant intestinal toxin-mediated botulism
Infantile botulism
leading to toxin-mediated infection with toxemia.
Infant botulism
Intestinal colonization botulism
Intestinal toxemia botulism
Intestinal toxin-mediated botulism
leading to toxin-mediated infection with toxemia. The disease affects infants (infant botulism; see this term) and very rarely adults (adult intestinal botulism; see this term).
Intestinal botulism
Adult intestinal colonization botulism
Adult intestinal toxemia botulism
Adult intestinal toxin-mediated botulism
Infant-like botulism
Adult intestinal botulism
Myopic maculopathy
Myopic macular degeneration
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_331176 with label: Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
Brain calcification, Rajab type is an inherited disorder characterized by widespread calcifications of basal ganglia and cortex, developmental delay, small stature, retinopathy and microcephaly. The absence of progressive deterioration of the neurological functions is characteristic of the disease.
Brain calcification, Rajab type
Parkinsonism with alveolar hypoventilation and mental depression
Perry syndrome is a rare inherited neurodegenerative disorder characterized by rapidly progressive early-onset parkinsonism, central hypoventilation, weight loss, insomnia and depression.
Perry syndrome
Mycosis fungoides-associated follicular mucinosis
Folliculotropic mycosis fungoides is a rare variant of mycosis fungoides (MF; see this term), a form of cutaneous T-cell lymphoma, and is characterized by the presence of folliculotropic infiltrates in patch-plaque lesions usually involving the head and neck area.
Folliculotropic mycosis fungoides
Pagetoid reticulosis, Woringer-Kolopp type
Localized pagetoid reticulosis is a rare variant of mycosis fungoides (MF; see this term), a form of cutaneous T-cell lymphoma, and is characterized by the presence of localized patches or plaques with epidermal hyperplasia and intraepidermal proliferation of neoplastic T-cells, usually involving one extremity.
Localized pagetoid reticulosis
Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma
Berti lymphoma
Primary cutaneous epidermotropic cytotoxic CD8+ T-cell lymphoma
Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma is a rare form of primary cutaneous T-cell lymphoma characterized by rapidly progressing, localized or disseminated nodules, tumors or eczematous skin lesions. It has a particularly aggressive clinical course with a high tendency to spread, in advanced stages, to extracutaneous locations (the central nervous system, lung, testes). Lymph nodes are often spared.
Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma
Primary cutaneous gamma/delta-positive T-cell lymphoma is a rare, usually aggressive, subtype of cutaneous T-cell lymphoma characterized by infiltration of the epidermis, dermis or subcutaneous tissue by a clonal population of mature, gamma/delta positive cytotoxic T-cells. Typically it presents with ulcerating plaques, tumors, or subcutaneous nodules on the skin of the extremities, however, frequent involvement of mucosal and extranodal sites (such as the nasal cavity, gastrointestinal tract or lungs) is also observed. Cases associated with panniculitis may present with hemophagocytic syndrome (abrupt onset of fever, rash, cytopenia, hepatosplenomegaly and neurological compromise). Infiltration of lymph nodes, spleen and bone marrow is uncommon and resistance to multilineage chemotherapy is reported.
Primary cutaneous gamma/delta-positive T-cell lymphoma
PCMZL
Primary cutaneous marginal zone B-cell lymphoma
PCFCL
Primary cutaneous follicle center lymphoma
PCDLBCL,LT
Primary cutaneous diffuse large B-cell lymphoma, leg type
Indolent primary cutaneous T-cell lymphoma
Aggressive primary cutaneous T-cell lymphoma
Aggressive primary cutaneous B-cell lymphoma
Indolent primary cutaneous B-cell lymphoma
Primary cutaneous B-cell lymphoma
Mycosis fungoides (MF) and its variants represent the most common forms of cutaneous T-cell lymphomas. The term MF is restricted to the classical form characterized by the slow progression of patches, plaques and tumors, and to variants with a similar indolent course.
Mycosis fungoides and variants
Opitz-Caltabiano syndrome
Acrofacialdysostosis, Catania type is a very rare type of acrofacialdysostosis (see this term) characterized by mild intrauterine growth retardation (IUGR), postnatal short stature, microcephaly, widow's peak, mandibulofacial dysostosis without cleft palate, frequent caries, mild pre- and postaxial limb hypoplasia with brachydactyly, mild interdigital webbing, simian creases, inguinal hernia and cryptorchidism and hypospadias in males.
Acrofacial dysostosis, Catania type
Acrofacial dysostosis, Palagonia type is a very rare form of acrofacial dysostosis, reported in four members of a family from the Sicilian village of Palagonia, characterized by normal intelligence, shortness of stature, and mild acrofacial dysostosis (malar hypoplasia, micrognathia and webbing of digits with shortening of the fourth metacarpals) associated with oligodontia, normal or high arched palate, aplasia cutis verticis with pili torti, mild cutaneous syndactyly of digits 2-5, webbing of digits and shortening of the fourth metacarpals, and unilateral cleft lip. Features are similar to those seen in Zlotogora-Ogur syndrome (see this term), although the latter shows no sign of acrofacial dysostosis. There have been no further reports in the literature since 1997.
Acrofacial dysostosis, Palagonia type
ADAMTS like 4
KIAA1592
cyclin and CBS domain divalent metal cation transport mediator 4
or shortly after birth.
Acrofacial dysostosis, Rodríguez type
HAI-2
Kop
placental bikunin
serine peptidase inhibitor, Kunitz type 2
KIND3
MIG-2
MIG2B
UNC112C
URP2
kindlin-3
fermitin family member 3
NKB
ZNEUROK1
preprotachykinin-B
tachykinin 3
NK3
NK3R
NKR
TAC3R
neurokinin B receptor
neurokinin beta receptor
neuromedin-K receptor
tachykinin receptor 3
THAP domain containing 1
HSD3
spermatogenesis associated 7
OBSOLETE: Craniofacial dysostosis-arthrogryposis-progeroid appearance syndrome
Immunologic neutropenia
Acquired neutropenia
Birdshot chorioretinitis
Birdshot retinochoroiditis
Birdshot retinochoroidopathy
Vitiliginous choroiditis
Birdshot chorioretinopathy is a posterior uveitis characterized by multiple cream-colored, hypopigmented choroidal lesions in the fundus and a strong association with HLA-A29 and clinically presenting with blurred vision, floaters, photopsia, scotoma and nyctalopia.
Birdshot chorioretinopathy
Hypomandibular faciocranial dysostosis is a cranial malformation characterized by facial dysmorphism (proptosis, frontal bossing, midface and zygomatic arches hypoplasia, short nose with anteverted nostrils, microstomia with persistent buccopharyngeal membrane, severe hypoglossia with glossoptosis, severe mandibular hypoplasia, and low set ears) associated with laryngeal hypoplasia and craniosynostosis. Other variable features include cleft palate, optic nerve coloboma and choanal stenosis.
Hypomandibular faciocranial dysostosis
Primary immunodeficiency due to a defect in adaptive immunity
Gollop syndrome
Fronto-facio-nasal dysostosis is characterized by multiple craniofacial anomalies (brachycephaly, blepharophimosis, ptosis, S-shaped palpebral fissures, coloboma, cleft lip and palate, deformed nostrils, encephalocele, hypertelorism, midface hypoplasia, malformed eyes, and absent inner eyelashes).
Frontofacionasal dysplasia
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_263463 with label: CHST3-related skeletal dysplasia
Richieri-Costa-Gorlin syndrome
Oculomaxillofacial dysostosis is a rare, genetic bone developmental disorder characterized by short stature, orbital region and ocular abnormalities (e.g. asymmetric orbits, anophthalmia, down-slanted and S-shaped palpebral fissures, sparse eyebrows/eyelashes, abnormal eyelids, ectropion, symblepharon, corneal leukoma), abnormal nose (e.g. broad and abnormally modeled nasal root, bridge and tip, lateral deviation), malar hypoplasia, cleft lip/palate, and oblique facial clefts. Intellectual disability, microcephaly, micrognathia and limb anomalies (e.g. hemimelia, abnormal scapular girdle, brachydactyly, syndactyly, broad halluces) have also been reported.
Oculomaxillofacial dysostosis
JBTS8
ADP ribosylation factor like GTPase 13B
KIAA0976
Lmnt1
Netrin-G1
netrin G1f
netrin G1
HAI
MT-SP1
SNC19
TMPRSS14
epithin
matriptase
suppression of tumorigenicity 14
klotho
bone morphogenetic protein 2
Clabp TACO
HCORO1
coronin-1
p57
coronin 1A
Obesity due to congenital leptin resistance
Obesity due to leptin receptor gene deficiency
Peripheral dysostosis is a rare primary bone dysplasia characterized by cone-shaped epiphyses of the phalanges, hyperextensibility and hyperflexibility of the fingers and marked delay in ossification of hand bones. Short-limbed short stature, very stubby, short fingers and toes, flat face and nose and a large skull may also be associated. There have been no further descriptions in the literature since 1980.
Peripheral dysostosis
Autosomal dominant spondylocostal dysplasia
Autosomal dominant spondylocostal dysostosis is a very rare and mild form of spondylocostal dysostosis characterized by vertebral and costal segmentation defects, often with a reduction in the number of ribs.
Autosomal dominant spondylocostal dysostosis
Autosomal dominant osteosclerosis, Stanescu type
Craniofacial dysostosis-diaphyseal hyperplasia syndrome
Stanescu osteosclerosis
Stanescu type dysostosis is a rare form of osteosclerosis.
Dysostosis, Stanescu type
Billard-Toutain-Maheut syndrome
FOXP2-associated dysphasia
Familial developmental dysphasia is a severe form of developmental verbal apraxia characterized by a deficit in spontaneous speech, writing, grammatical judgment and repetition, defective articulation, moderate to severe degree of dyspraxia, a reduced use of consonant clusters, and comprehension delay. Hearing and intelligence are normal.
Familial developmental dysphasia
Classic RTA
Familial distal primary acidosis
Renal tubular acidosis type 1
dRTA
Distal renal tubular acidosis (dRTA) is a disorder of impaired net acid secretion by the distal tubule characterized by hyperchloremic metabolic acidosis. The classic form is often associated with hypokalemia whereas other forms of acquired dRTA may be associated with hypokalemia, hyperkalemia or normokalemia.
Distal renal tubular acidosis
CHM
Tapetochoroidal dystrophy
Choroideremia (CHM) is an X-linked chorioretinal dystrophy characterized by progressive degeneration of the choroid, retinal pigment epithelium (RPE) and retina.
Choroideremia
use http://www.orpha.net/ORDO/Orphanet_93446 with label: Primary bone dysplasia with decreased bone density
OBSOLETE: Craniofaciocervical osteoglyphic dysplasia
Uterovaginal malformation
Non-syndromic uterovaginal malformation
Incomplete bilateral aplasia of the Müllerian ducts
Partial bilateral aplasia of the Müllerian ducts
Unicornuate uterus
Unilateral aplasia of the Müllerian ducts
Complete unilateral Müllerian aplasia
Complete unilateral aplasia of the Müllerian ducts
Unicornuate uterus without rudimentary horn
True unicornuate uterus is a rare, non-syndromic uterovaginal malformation characterized by a crescent-shaped, small-sized uterus containing a single horn and fallopian tube with no rudimentary horn. Urinary tract anomalies are frequently associated.
True unicornuate uterus
Incomplete unilateral Müllerian aplasia
Incomplete unilateral aplasia of the Müllerian ducts
Unicornuate uterus with rudimentary horn
Pseudounicornuate uterus is a rare, non-syndromic uterovaginal malformation characterized by a crescent-shaped, small-sized uterus containing a single horn and fallopian tube associated with a rudimentary second horn (which can be solid or contain a cavity with functioning endometrium and be communicating or non-communicating). Urinary tract anomalies are frequently associated.
Pseudounicornuate uterus
Bicervical bicornuate uterus
Didelphys uterus
Kyphomelic dysplasia
Bicervical bicornuate uterus and blind hemivagina
Bicervical bicornuate uterus with patent cervix and vagina
Unicervical bicornuate uterus
Uterus arcuatus
Uterus cordiformis
Cordiform uterus
Septate uterus
Total septate uterus
Complete septate uterus is a rare, non-syndromic uterovaginal malformation characterized by a uterus that has a longitudinal septum which elongates from the uterine fundus to the internal or external cervical os. Most often women are asymptomatic, however dysmenorrhea, unilateral obstruction, and endometriosis could be observed. Unlike urinary tract abnormalities, which are very rarely associated, poor reproductive outcome is frequent.
Complete septate uterus
Subtotal septate uterus
Uterus subseptus
Partial septate uterus is a rare, non-syndromic uterovaginal malformation characterized by a uterus that has a longitudinal septum which extends from the uterine fundus and does not reach the internal cervical os (variable lengths and widths may be observed). Although frequently asymptomatic, an increased risk of poor reproductive outcome has been observed. Urinary tract abnormalities are very rarely associated.
Partial septate uterus
Bicornuate uterus
Uterine hypoplasia
Agenesis and aplasia of uterine body
Uterine cervical aplasia and agenesis
Syndromic uterovaginal malformation
Rare vaginal malformation
Septate vagina
Longitudinal vaginal septum
Transverse vaginal septum
Rare breast malformation
Excess breast volume or number
Deficient breast volume or number
Familial juvenile gigantomastia
Virginal breast hypertrophy
Familial juvenile hypertrophy of the breast is a rare breast malformation disorder characterized by unilateral or bilateral, symmetrical or asymmetrical, uncontrolled, rapid and massive enlargement of the breast(s) in peripubertal females, occurring in various members of a family. Additional associated manifestations may include skin hyperemia, dilated subcutaneous veins, skin necrosis, kyphosis, lordosis and anonychia. Growth and development are otherwise normal.
Familial juvenile hypertrophy of the breast
Accessory breasts
Polymastia
Supernumerary breasts
Isolated congenital amastia
Isolated congenital breast hypoplasia/aplasia
Syndromic breast hypoplasia/aplasia
Rare non-malformative gynecologic or obstetric disease
Diaphyseal dysplasia-anemia syndrome
Ghosal syndrome
Ghosal hematodiaphyseal dysplasia syndrome (GHDD) is a rare disorder characterized by increased bone density (predominantly diaphyseal) and aregenerative corticosteroid-sensitive anemia.
Ghosal hematodiaphyseal dysplasia
Rare non-malformative breast disease
Rare non-malformative uterovaginal or vulvovaginal disease
Anomaly of puberty or/and menstrual cycle
NSP-like protein 1
NSP2
NSPL1
Neuroendocrine-specific protein-like 1
reticulon 2
spastic paraplegia 19 (autosomal dominant)
AT-1
solute carrier family 33 member 1
syn: Rare tumor of ovaries and fallopian tubes
Rare uterine adnexal tumor
Embryonal carcinoma
Polyembryoma
spastic paraplegia 29 (autosomal dominant)
Mixed germ cell tumor
Benign tumor of fallopian tubes
spastic paraplegia 37 (autosomal dominant)
Cancer of fallopian tubes
Malignant tubal tumor
Tubal cancer
Malignant tumor of fallopian tubes
spastic paraplegia 38 (autosomal dominant, Silver syndrome)
Vaginal malignant epithelial tumor
Vaginal carcinoma
Rare breast tumor
Rare benign breast tumor
Rare breast cancer
Rare malignant breast tumor
Cystosarcoma phyllodes of the breast
Phyllode tumor of the breast is a rare fibroepithelial neoplasm accounting for less than 1% of all mammary tumors, usually presenting in adult females (most frequently between the ages of 35-55 years), ranging from benign to malignant and often presenting with well circumscribed mobile masses that grow rapidly and sometimes with additional non-specific symptoms such as dilated skin veins, nipple retraction, skin ulcers, palpable axillary lymphadenopathy or blue discoloration of the skin.
Phyllodes tumor of the breast
Giant adenofibroma of the breast is a rare, benign, fibroepithelial tumor which usually manifests as a unilateral, painless, firm, mobile, slow-growing mass in the breast that measures more than 5 cm. It can be associated with significant asymmetry and/or deformity of the breast and hormonal changes (e.g. puberty, pregnancy, oral contraceptives) can lead to its marked enlargement.
Giant adenofibroma of the breast
spastic paraplegia 24 (autosomal recessive)
KIAA1705
PA-PLA1
Phosphatidic acid-preferring phospholipase A1
DDHD domain containing 1
Mammary Paget disease
Paget disease of the breast
Paget's disease of the nipple
Paget disease of the nipple describes a rare presentation of breast cancer, seen most frequently in women aged 50-60, manifesting with nipple drainage and itching, erythema, crusty and excoriated nipple, thickened plaques, and hyperpigmentation (less frequently). It is due to tumor cells invading the nipple-areola complex and represents 1-3% of all new breast cancer diagnoses.
Paget disease of the nipple
spastic paraplegia 14 (autosomal recessive)
Rivera-Perez-Salas syndrome
Thoracolimb dysplasia, Rivera type
Thoracomelic dysplasia is an extremely rare primary bone dysplasia disorder characterized by a bell-shaped thorax, disproportionate short stature, pelvic hypoplasia, dislocatable radial heads and elongated distal fibulae. No acetabular spurs nor phalangeal cone-shaped epiphyses are present and osseous manifestations tend to normalize with age. There have been no further descriptions in the literature since 1988.
Thoracomelic dysplasia
spastic paraplegia 23 (autosomal recessive)
Rare non-malformative uterine adnexal disease
spastic paraplegia 25 (autosomal recessive, with disc herniation)
Rare vulvovaginal tumor
spastic paraplegia 27 (autosomal recessive)
spastic paraplegia 32 (autosomal recessive)
spastic paraplegia 16 (complicated, X-linked recessive)
spastic paraplegia 34 (autosomal dominant)
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_156731 with label: Dyssegmental dysplasia, Rolland-Desbuquois type
Dyssegmental dysplasia-glaucoma syndrome
Ectodermal dysplasia-blindness syndrome is characterized by intellectual deficit, blindness caused by ocular malformations (microphthalmia, microcornea and sclerocornea), short stature, dysmorphic facial features (narrow nasal bridge and prominent ears), hypotrichosis, and malaligned teeth. It has been described in two siblings (brother and sister) and is likely to be transmitted as an autosomal recessive trait.
Ectodermal dysplasia-blindness syndrome
FFDD type III
FFDD3
Focal facial dermal dysplasia 3, Setleis type
Setleis syndrome
Focal facial dermal dysplasia type III (FFDD3) is a rare focal facial facial dysplasia (FFDD; see this term), characterized primarily by congenital bitemporal scar-like depressions and a typical, but variable facial dysmorphism, which may include distichiasis (upper lids) or lacking eyelashes, slanted eyebrows and a flattened and/or bulbous nasal tip and other features such as a low frontal hairline, sparse hair, redundant skin, epicanthal folds, low-set dysplastic ears, blepharitis and conjunctivitis.
Focal facial dermal dysplasia type III
Malformative syndrome with dentinogenesis imperfecta
Rare disease with autism
Non-syndromic diaphragmatic or thoracic malformation
Syndromic diaphragmatic or thoracic malformation
Christianson-Fourie syndrome
Hidrotic ectodermal dysplasia, Christianson-Fourie type is a rare ectodermal dysplasia syndrome characterized by tricho- and onychodysplasia in association with cardiac rhythm abnormalities. Patients present with sparse scalp hair and eyelashes, absent or sparse eyebrows, dystrophic thickened nails (on fingers distal end may be lifted from the nail bed) and supraventricular tachicardia or sinus bradicardia.
Hidrotic ectodermal dysplasia, Christianson-Fourie type
Rare gastroesophageal tumor
Rare pancreatic tumor
Rare tumor of pancreas
Halal-Setton-Wang syndrome
Trichodysplasia-abnormal dermatoglyphics-intellectual disability syndrome
Hidrotic ectodermal dysplasia, Halal type is a form of ectodermal dysplasia syndrome (see this term) characterized by trichodysplasia, with absent eyebrows and eyelashes, onychodysplasia, mild retrognathia, abnormal dermatoglyphics (excess of whorls on fingertips, radial loop on finger, hypothenar pattern), intellectual disability and normal teeth and sweating. Additional variable manifestations include high implanted or prominent ears, mild hearing loss, supernumerary nipple, café-au-lait spots, keratosis pilaris, and irregular menses. To date, four individuals from 2 generations of a consanguineous family of Portuguese descent have been described in the literature. Males and females were equally affected. Hidrotic ectodermal dysplasia, Halal type is inherited in an autosomal recessive manner.
Hidrotic ectodermal dysplasia, Halal type
Christ-Siemens-Touraine syndrome
X-linked anhidrotic ectodermal dysplasia
X-linked hypohidrotic ectodermal dysplasia
AD-HED
Autosomal dominant anhidrotic ectodermal dysplasia
Autosomal dominant hypohidrotic ectodermal dysplasia
Odontomicronychial dysplasia is a rare, hereditary ectodermal dysplasia syndrome characterized by involvement of teeth and nails - precocious eruption and shedding of deciduous dentition, precocious eruption of secondary dentition with short, rhomboid roots, and short, thin, slow growing nails.
Odontomicronychial dysplasia
FBX7
Fbx
PARK15
F-box protein 7
T-box brain2
TBR2
eomesodermin
SBP2
Sec insertion sequence-binding protein 2
SECIS binding protein 2
NYD-SP12
spermatogenesis associated 16
SIATGM3S
ST3GalV
ST3 beta-galactoside alpha-2,3-sialyltransferase 5
CK4
cytokeratin 4
keratin, type II cytoskeletal 4
keratin 4
CK13
K13
MGC3781
cytokeratin 13
keratin, type I cytoskeletal 13
keratin 13
Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome is a rare, multiple developmental anomalies syndrome characterized by the triad of ectodermal dysplasia (mostly hypohidrotic with dry skin and reduced sweating and sparse, fair scalp hair, eyebrows and eyelashes), severe intellectual disability and variable central nervous system anomalies (cerebellar hypoplasia, dilatation of ventricles, corpus callosum agenesis, Dandy-Walker malformation). Distinct craniofacial dysmorphism with macrocephaly, frontal bossing, midfacial hypoplasia and high arched or cleft palate, as well as cryptorchidism, feeding difficulties and hypotonia, are associated. There have been no further descriptions in the literature since 1998.
Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome
Rare insulin-resistance syndrome
Rare insulin-dependent diabetes mellitus
Rare diabetes mellitus type 1
Rare insulin-independent diabetes mellitus
Rare diabetes mellitus type 2
Other rare diabetes mellitus
Rare hypothalamic or pituitary disease
Rare disorder with secondary hypogonadism
Rare disorder with hypogonadotropic hypogonadism
Hypogonadotropic hypogonadism associated with other endocrinopathies
GHIS
Short stature due to a defect in growth hormone receptor or post-receptor pathway
Growth hormone insensitivity syndrome (GHIS) is a group of diseases characterized by marked short stature associated with normal or elevated growth hormone (GH) concentrations, which fail to respond to exogenous GH administration. GHIS comprises growth delay due to IGF-1 deficiency, growth delay due to IGF-1 resistance, Laron syndrome, short stature due to STAT5b deficiency and primary acid-labile subunit (ALS) deficiency (see these terms).
Growth hormone insensitivity syndrome
Rare hypothyroidism
Rare hyperthyroidism
Syndrome with hypoparathyroidism
Rare hypoparathyroidism
Rare hyperparathyroidism
Adrenogenital syndrome
Rare primary aldosteronism
Rare primary hyperaldosteronism
Rare hypoaldosteronism
Rare hyperlipidemia
Major hypertriglyceridemia comprises a group of endocrine diseases characterized by permanently high levels of triglycerides (TG) in the blood (higher than 4g/L after 12 hours of fasting) and an increased risk of acute pancreatitis, making screening essential.
Major hypertriglyceridemia
Hyperalphalipoproteinemia
Rare hypolipidemia
Rare syndromic dyslipidemia
Rare disorder with primary hypogonadism
Rare disorder with hypergonadotropic hypogonadism
Berlin syndrome
Ectodermal dysplasia, Berlin type
Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome is a rare ectodermal dysplasia syndrome characterized by congenital generalized melanoleukoderma, hypodontia and hypotrichosis associated with infantilism, intellectual disability and growth delay. There have been no further descriptions in the literature since 1961.
Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome
Ectodermal dysplasia, trichoodontoonychial type is a form of ectodermal dysplasia with hair, teeth and nail involvement characterized predominantly by hypodontia, hypotrichosis, delayed hair growth and brittle nails. Additionally, focal dermal hypoplasia, irregular hyperpigmentation, hypoplastic or absent nipples, amastia, hearing impairment, congenital hip dislocation and asthma have been associated. There have been no further descriptions in the literature since 1996.
Ectodermal dysplasia, trichoodontoonychial type
Epimetaphyseal skeletal dysplasia
GLOD2
glyoxalase domain containing 2
methylmalonyl-CoA epimerase
Chromoblastomycosis
Chromomycosis
Aplastic anemia
Rare constitutional hemolytic anemia
Rare acquired hemolytic anemia
MYH9-RD
MYH9-related disorder
MYH9-related syndrome
MYH9-related syndromic thrombocytopenia
MYH9-related disease (MYH9-RD) is an inherited giant platelet disorder with a complex phenotype characterized by congenital thrombocytopenia and possible subsequent manifestations of sensorineural hearing loss, presenile cataracts, elevation of liver enzymes, and/or progressive nephropathy often leading to end-stage renal disease (ESRD). Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly and Sebastian syndrome, previously described as distinct disorders, represent some of the different clinical presentations of MYH9-RD.
MYH9-related disease
Rare thrombotic disease of hematologic origin
Primary orthostatic hypotension
Cerebellar malformation
Rare neuroinflammatory or neuroimmunological disease
Glioma
Glial tumor
Rare neurodegenerative disease
Syndromic neurometabolic disease with non-X-linked intellectual disability
Syndromic neurometabolic disease with X-linked intellectual disability
ARX-related epileptic encephalopathy
Channelopathy with epilepsy
Acquired peripheral neuropathy
PAH
Pulmonary arterial hypertension (PAH) is a group of diseases characterized by elevated pulmonary arterial resistance leading to right heart failure. PAH is progressive and potentially fatal. PAH may be idiopathic and/ or familial, or induced by drug or toxin (drug-or toxin-induced PAH, see these terms) or associated with other diseases like congenital heart disease, connective tissue disease, HIV, schistosomiasis, portal hypertension (PAH associated with other disease, see this term).
Pulmonary arterial hypertension
ILD
Interstitial lung disease
Pneumoconiosis
Idiopathic eosinophilic pneumonia
CTD-ILD
Secondary ILD in childhood and adulthood associated with a connective tissue disease
Secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease
Thoracic malformation
Respiratory malformation
Rare urogenital tumor
Non-syndromic urogenital tract malformation of female
Non-syndromic urogenital tract malformation of male
Non-syndromic urogenital tract malformation of male and female
Extragonadal germinoma is a rare, malignant germ cell tumor that occur in the midline of the body as a result of abnormal germ cell migration during embryogenesis. Clinical manifestations are variable and depend on the location and size of the tumor. Central nervous system tumor might present with headache, visual disturbances, endocrine abnormalities, and signs of increased intracranial pressure. A mediastinal tumor commonly presents with chest pain, dyspnea, cough and fever. Abdominal mass with or without pain, backache and weight loss are common clinical presentations in retroperitoneal tumor.
Extragonadal germinoma
Tumor of endocrine glands
Trevor disease
Dysplasia epiphysealis hemimelica
Rare systemic disease
Systemic autoimmune disease
Rare rheumatologic disease
use http://www.orpha.net/ORDO/Orphanet_364526 with label: Primary bone dysplasia
OBSOLETE: Localized epiphyseal dysplasia
Epiphyseal dysplasia-microcephaly-nystagmus syndrome
Lowry-Wood syndrome is characterized by the association of epiphyseal dysplasia, short stature, microcephaly and, in the first reported cases, congenital nystagmus. So far, less than 10 cases have been described in the literature. Variable degrees of intellectual deficit have also been reported. Other occasional features include retinitis pigmentosa (see this term) and coxa vara. Transmission appears to be autosomal recessive.
Lowry-Wood syndrome
Finucane-Kurtz-Scott syndrome
Epiphyseal dysplasia-hearing loss-dysmorphism syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, short stature, sensorineural hearing impairment, facial dysmorphism (incl. epicanthus, broad, depressed nasal bridge, broad, fleshy nasal tip, mildly anteverted nares, deep nasolabial folds, broad mouth with thin upper lip) and skeletal anomalies (incl. abnormally placed thumbs, brachydactyly, scoliosis, dysplastic carpal bones). Patients also present severe behavior disturbances (aggression, hyperactivity), as well as hypopigmented skin lesions and hypoplastic digital patterns. There have been no further descriptions in the literature since 1992.
Epiphyseal dysplasia-hearing loss-dysmorphism syndrome
ARHGAP2
Chimerin 1 (GTPase-activating protein, rho, 2)
RhoGAP2
chimaerin 1
n-chimerin
chimerin 1
Frontometaphyseal dysplasia (FMD) belongs to the otopalatodigital syndrome spectrum disorder and is characterized by anomalous ossification and skeletal patterning of the axial and appendicular skeleton, facial dysmorphism and conductive and sensorineural hearing loss.
Frontometaphyseal dysplasia
AFND
Acromelic frontonasal dysostosis
Toriello syndrome
Acromelic frontonasal dysplasia (AFND) is a rare variant of frontonasal dysplasia characterized by distinct craniofacial (large fontanelle, hypertelorism, bifid nasal tip, nasal clefting, brachycephaly, median cleft face, carp-shaped mouth), brain (interhemispheric lipoma, agenesis of the corpus callosum), and limb (tibial hypoplasia/aplasia, club foot, symmetric preaxial polydactyly of the feet and bilateral clubbed and thickened nails of halluces ) malformations as well as intellectual disability. Other manifestations sometimes reported include absent olfactory bulbs, hypopituitarism and cryptorchidism.
Acromelic frontonasal dysplasia
Genetic urticaria
Churg-Strauss syndrome
EGPA
Granulomatous allergic angiitis
Eosinophilic granulomatosis with polyangiitis (EGPA), previously known as Churg-Strauss syndrome, is a systemic vasculitis of small-to medium vessels, characterized by asthma, transient pulmonary infiltrates, and hypereosinophilia.
Eosinophilic granulomatosis with polyangiitis
Schimke syndrome
Spondyloepiphyseal dysplasia-nephrotic syndrome
Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome.
Schimke immuno-osseous dysplasia
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_782 with label: Axenfeld-Rieger syndrome
Raine syndrome
Lethal osteosclerotic bone dysplasia is defined by generalized osteosclerosis with periosteal bone formation, characteristic facial dysmorphism, brain abnormalities including intracerebral calcifications, and neonatal lethal course.
Lethal osteosclerotic bone dysplasia
Blastogenesis defect
Russell-Weaver-Bull syndrome
Axial mesodermal dysplasia spectrum is a rare developmental defect during embryogenesis syndrome characterized by congenital manifestations of both oculo-auriculo-vertebral spectrum and caudal regression sequence. Phenotype is highly variable but patients typically present facial dysmorphism (incl. asymmetry, hypertelorism), auricular abnormalities (e.g. preauricular tags, microtia, absence of middle ear ossicles), skeletal malformations (hemivertebrae, hip dislocation, sacral agenesis/dysplasia, talipes equinovarus, flexion deformity of lower limbs), cardiac defects (dextrocardia, septal defects), renal and genitourinary anomalies (such as renal agensis/dysplasia, abnormal external genitalia, cryptorchidia), as well as anal anomalies such as anal atresia and rectovesical fistula.
Axial mesodermal dysplasia spectrum
Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases.
Polymalformative genetic syndrome with increased risk of developing cancer
Genetic epidermal disorder
Genetic ichthyosis
Inherited ichthyosis
Genetic erythrokeratoderma
Genetic acrokeratoderma
Genetic porokeratosis
Genetic epidermal appendage anomaly
Genetic hair anomaly
Genetic nail anomaly
Genetic sebaceous gland anomaly
Genetic pigmentation anomaly of the skin
Genetic hyperpigmentation of the skin
Genetic hypopigmentation of the skin
Genetic dermis disorder
Genetic skin vascular disorder
Genetic mixed dermis disorder
Genetic subcutaneous tissue disorder
Genetic skin tumor
Genetic skin photosensitivity
Photogenodermatosis
Photogénodermatose
Genetic photodermatosis
Genetic immune deficiency with skin involvement
Genetic neuromuscular disease
Genetic neurodegenerative disease
Genetic central nervous system and retinal vascular disease
Genetic central nervous system malformation
Rare genetic headache
Rare genetic epilepsy
Rare genetic medullar disease
Rare hereditary ataxia
Rare genetic movement disorder
Rare genetic bone disease
Genetic bone tumor
Rare genetic developmental defect during embryogenesis
Genetic multiple congenital anomalies/dysmorphic syndrome
Genetic congenital limb malformation
Genetic renal or urinary tract malformation
Genetic cranial malformation
Genetic digestive tract malformation
Genetic visceral malformation of the liver, biliary tract, pancreas or spleen
Genetic respiratory or mediastinal malformation
Genetic developmental defect of the eye
Genetic malformation syndrome with short stature
Genetic overgrowth/obesity syndrome
Genetic branchial arch or oral-acral syndrome
Genetic malformation syndrome with odontal and/or periodontal component
Genetic head and neck malformation
Genetic glomerular disease
Genetic thrombotic microangiopathy
Genetic renal tubular disease
Genetic renal tumor
use http://www.orpha.net/ORDO/Orphanet_522524 with label: Rare genetic disorder of the ocular adnexa
OBSOLETE: Rare genetic palpebral, lacrimal system and conjunctival disease
Kantaputra mesomelic dysplasia
MDK
Mesomelic dysplasia, Thai type
Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature.
Mesomelic dysplasia, Kantaputra type
use http://www.orpha.net/ORDO/Orphanet_98618 with label: Rare refraction anomaly
OBSOLETE: Rare genetic refraction anomaly
use http://www.orpha.net/ORDO/Orphanet_359 with label: Hereditary glaucoma
Genetic lens and zonula anomaly
Genetic neuro-ophthalmological disease
Genetic eye tumor
Genetic respiratory malformation
Rare genetic diabetes mellitus
Rare genetic hypothalamic or pituitary disease
Rare genetic thyroid disease
Rare genetic parathyroid disease and phosphocalcic metabolism disorder
Rare genetic adrenal disease
Genetic polyendocrinopathy
Rare constitutional anemia
Rare genetic coagulation disorder
SCID
Severe combined immunodeficiency (SCID) comprises a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. They are classified according to immunological phenotype into SCID with absence of T cells but presence of B cells (T-B+ SCID) or SCID with absence of both (T-B- SCID) (see these terms). Both of these groups include several forms, with or without natural killer (NK) cells.
Severe combined immunodeficiency
HIGM with susceptibility to opportunistic infections
, but also chronic cryptosporidial, cryptococcal, cytomegalovirus and toxoplasma infections). Hematologic disorders (neutropenia, anemia, thrombocytopenia) are frequently associated. Immunologic findings reveal decreased numbers of CD27+ memory B cells and lack of germinal center formation.
Hyper-IgM syndrome with susceptibility to opportunistic infections
HIGM without susceptibility to opportunistic infections
Hyper-IgM syndrome without susceptibility to opportunistic infections is a rare, genetic, primary immunodeficiency due to a defect in adaptive immunity disorder characterized by normal or elevated IgM serum levels with low or absent IgG, IgA and IgE serum concentrations, which manifests with recurrent bacterial sinopulmonary and gastrointestinal infections, with frequent lymphoid hyperplasia (peripheral lymphadenopathy, tonsillar hypertrophy), with no increased susceptibility to opportunistic infections. Autoimmune manifestations (including immune cytopenias, arthritis and hepatitis) are occasionally associated. Immunologic findings reveal absent immunoglobulin class switch recombination and lack of defect of immunoglobulin somatic hypermutations in the presence of normal numbers of CD27+ memory B cells.
Hyper-IgM syndrome without susceptibility to opportunistic infections
Agammaglobulinemia
use http://www.orpha.net/ORDO/Orphanet_1572 with label: Common variable immunodeficiency
OBSOLETE: Common variable immunodeficiency due to TNFR deficiency
IgG subclass deficiency with IgA subclass deficiency
Isolated IgG subclass deficiency
Kappa-chain deficiency
Selective IgG subclass deficiency
Deficiencies in immunoglobulin (Ig) isotypes (including: isolated IgG subclass deficiency, IgG sublcass deficiency with IgA deficiency and kappa chain deficiency) are primary immunodeficiencies that are often asymptomatic but can be characterized by recurrent, often pyogenic, sinopulmonary infections.
Recurrent infections associated with rare immunoglobulin isotypes deficiency
Hermansky-Pudlak syndrome type 2
Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia.
Hermansky-Pudlak syndrome with neutropenia
Functional neutrophil defect
Rosenberg-Lohr syndrome
Ulna metaphyseal dysplasia syndrome is a rare primary bone dysplasia characterized by dysplasia of the distal ulnar metaphyses, as well as metacarpal/metatarsal dysplasia and metaphyseal changes resembling enchondromata. Patients usually present bony swelling of the wrists with or without pain (knees and ankles may also be affected). Other variably associated features include platyspondyly, skeletal development delay, short stature and coxa valga.
Ulna metaphyseal dysplasia syndrome
Neutrophil immunodeficiency syndrome is a primary immunodeficiency characterized by neutrophilia with severe neutrophil dysfunction, leukocytosis, a predisposition to bacterial infections and poor wound healing, including an absence of pus in infected areas.
Neutrophil immunodeficiency syndrome
Genetic susceptibility to infections due to particular pathogens
MyD88 deficiency
Pyogenic bacterial infection due to MyD88 deficiency is a primary immunodeficiency characterized by increased susceptibility to pyogenic bacterial infections, including invasive pneumococcal, invasive staphylococcal and pseudomonas disease.
Pyogenic bacterial infections due to MyD88 deficiency
Rare genetic gynecological and obstetrical diseases
Genetic gynecological tumor
Rare genetic intellectual disability
Rare genetic syndromic intellectual disability
Rare genetic immune disease
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_175 with label: Cartilage-hair hypoplasia
Metaphyseal dysplasia without hypotrichosis
FKHL20
forkhead box N1
CWH41
DER7
GCS1
glucosidase I
processing A-glucosidase I
mannosyl-oligosaccharide glucosidase
C6orf37
PBLT
mucin like 3
CRP1
CCAAT enhancer binding protein epsilon
transaldolase 1
KIAA0605
ADAMTS like 2
Urban-Schosser-Spohn syndrome
Hereditary mucoepithelial dysplasia
complex I B14.7 subunit
NADH:ubiquinone oxidoreductase subunit A11
HIF-1 alpha-like factor
HIF2A
HLF
MOP2
PASD2
bHLHe73
endothelial PAS domain protein 1
TRNL2
mitochondrially encoded tRNA leucine 2 (CUN)
KIAA0791
nucleoporin 155
SHFM6
WNT-12
Wnt family member 10B
DHC1b
DHC2
DYH1B
hdhc11
dynein cytoplasmic 2 heavy chain 1
Cherubism is a rare, self-limiting, fibro-osseous, genetic disease of childhood and adolescence characterized by varying degrees of progressive bilateral enlargement of the mandible and/or maxilla, with clinical repercussions in severe cases.
Cherubism
Autosomal recessive lethal chondrodysplasia, round femoral inferior epiphysis type
Bone dysplasia lethal Holmgren type (BDLH) is a lethal bone dysplasia characterized at birth by low birth weight, a rhizomelic dwarfism, bent femora and short chest producing asphyxia. It was described in three siblings from healthy, non-consanguineous parents of Finnish and in four siblings from non-consanguineous parents of French origin with no family history of dwarfism. The initial cases could have been diagnosed as Desbuquois syndrome, or a recessive Larsen syndrome. There has been no further description of BDLH in the literature since 1988.
Bone dysplasia, lethal Holmgren type
use http://www.orpha.net/ORDO/Orphanet_93450 with label: Primary bone dysplasia with disorganized development of skeletal components
Bilateral renal agenesis is the most profound form of renal agenesis (see this term), characterized by complete absence of kidney development, absent ureters and subsequent absence of fetal renal function resulting in Potter sequence with pulmonary hypoplasia related to oligohydramnios, which is fatal shortly after birth.
Renal agenesis, bilateral
Infundibulopelvic stenosis-multicystic kidney syndrome is a rare, genetic renal malformation syndrome characterized by variable degrees of malformation in the pelvicalyceal system (including unilateral or bilateral calyceal dilatation, infundibular stenosis, hypoplasia or stenosis of the renal pelvis) which lead to multicystic kidney. Clinically it exhibits abdominal, lumbar or flank pain, recurrent urinary tract infections, hypertension, proteinuria and often progresses to renal insufficiency. Calyceal dilatation and hydronephrosis are frequently seen on imaging.
Infundibulopelvic stenosis-multicystic kidney syndrome
Congenital pulmonary venolobar syndrome
Epibronchial right pulmonary vein syndrome
Halasz syndrome
Hypogenetic lung syndrome
Scimitar syndrome is characterized by a combination of cardiopulmonary anomalies including partial anomalous pulmonary venous return connection of the right lung to the inferior caval vein leading to the creation of a left-to-right shunt.
Scimitar syndrome
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_1768 with label: Familial caudal dysgenesis
Renal dysplasia-megalocystis-sirenomelia syndrome
MCDK
Multicystic renal dysplasia
Multicystic dysplastic kidney (MCDK) is a congenital anomaly of the kidney and urinary tract (CAKUT) in which one or both kidneys (unilateral or bilateral MCDK respectively; see these terms) are large, distended by multiple cysts, and non-functional.
Multicystic dysplastic kidney
X-linked retinal dysplasia
SPENCD
Spondyloenchondromatosis
Spondylometaphyseal dysplasia with enchondromatous changes
Spondyloenchondrodysplasia (SPENCD) is a very rare genetic skeletal dysplasia characterized clinically by skeletal anomalies (short stature, platyspondyly, short broad ilia) and enchondromas in the long bones or pelvis. SPENCD may have a heterogeneous clinical spectrum with neurological involvement (spasticity, mental retardation and cerebral calcifications) or autoimmune manifestations, such as immune thrombocytopenic purpura, systemic lupus erythematosus (see these terms) hemolytic anemia and thyroiditis.
Spondyloenchondrodysplasia
Spondyloperipheral dysplasia-short ulna syndrome is a rare, genetic, primary bone dysplasia, with highly variable phenotype, typically characterized by platyspondyly, brachydactyly type E changes (short metacarpals and metatarsals, short distal phalanges in hands and feet), bilateral short ulnae and mild short stature. Other reported features include additional skeletal findings (e.g. midface hypoplasia, degenerative changes in proximal femora, limited elbow extension, bilateral sacralization of L5, clubfeet), as well as myopia, hearing loss, and intellectual disability.
Spondyloperipheral dysplasia-short ulna syndrome
Gurrieri-Sammito-Bellussi syndrome
Skeletal dysplasia-epilepsy-short stature syndrome is characterized by moderate to severe intellectual deficit, seizures, short stature, and skeletal dysplasia. It has been described in seven patients. Other manifestations can be associated (retinal abnormalities, brachydactyly, prognathism, dental malocclusion). It is transmitted as an autosomal recessive trait.
Skeletal dysplasia-epilepsy-short stature syndrome
Hanot syndrome
PBC
Primary biliary cirrhosis
Primary biliary cholangitis (PBC) is a chronic and slowly progressive cholestatic liver disease of autoimmune etiology characterized by injury of the intrahepatic bile ducts that may eventually lead to liver failure.
Primary biliary cholangitis
TD1
Thanatophoric dwarfism type 1
Thanatophoric dysplasia type 1 (TD1) is a form of TD (see this term) characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly.
Thanatophoric dysplasia type 1
Thoracic dysplasia-hydrocephalus syndrome is an extremely rare primary bone dysplasia syndrome characterized by short ribs with a narrow chest and thoracic dysplasia, mild rhizomelic shortening of the limbs, communicating hydrocephalus, and developmental delay. There have been no further descriptions in the literature since 1987.
Thoracic dysplasia-hydrocephalus syndrome
Valvular dysplasia is a rare cardiac disease that may be limited to one of the four valves but can also involve the two atrioventricular valves and the two semilunar valves. When it is associated with either stenosis or regurgitation of the affected valve(s), the symptoms depend on the degree of obstruction or on the volume of regurgitation.
Congenital valvular dysplasia
Dyssegmental dysplasia, Silverman-Handmaker type is a rare, genetic, primary bone dysplasia disorder, and lethal form of neonatal short-limbed dwarfism, characterized by anisospondyly, severe short stature and limb shortening, metaphyseal flaring and distinct dysmorphic features (i.e. flat facial appearance, abnormal ears, short neck, narrow thorax). Additional features may include other skeletal findings (e.g. joint contractures, bowed limbs, talipes equinovarus) and urogenital and cardiovascular abnormalities.
Dyssegmental dysplasia, Silverman-Handmaker type
Focal Dystonia is a rare neurologic movement disorder characterized by sustained muscle contractions of a single body region, usually producing twisting and repetitive movements or abnormal postures or positions.
Focal, segmental or multifocal dystonia
Bullous dystrophy, macular type is a genetic disorder characterised by formation of bullae without traumatic origin, alopecia, hyperpigmentation, acrocyanosis, short stature, microcephaly, intellectual deficit, tapering fingers and nail abnormalities. Two families (one of whom was Dutch and the other Italian) have been described up to now, in which only males were affected. Transmission is X-linked recessive. The bullous dystrophy locus has been mapped to Xq26.3 in the Italian family and to Xq27.3 in the Dutch family.
Bullous dystrophy, macular type
Citrullinemia is an autosomal recessively inherited disorder of urea cycle metabolism and ammonia detoxification (see this term) characterized by elevated concentrations of serum citrulline and ammonia. The disease presents with a large range of manifestations including neonatal hyperammonemic encephalopathy with lethargy, seizures and coma; hepatic dysfunction in all age groups; episodes of hyperammonemia and neuropsychiatric symptoms in children or adults, or, can be asymptomatic in some cases (detected in newborn screening programs). Citrullinemia is divided into two main groups that are encoded by different genes: citrullinemia type I (comprised of acute neonatal citrullinemia type I and adult-onset citrullinemia type I) and citrin deficiency (comprised of adult-onset citrullinemia type II and neonatal intrahepatic cholestasis due to citrin deficiency) (see these terms).
Citrullinemia
Cone dystrophy
Progressive cone dystrophy
Cone rod dystrophies (CRDs) are inherited retinal dystrophies that belong to the group of pigmentary retinopathies.
Cone rod dystrophy
Cone rod dystrophy-amelogenesis imperfecta syndrome
Jalili syndrome is characterized by the association of amelogenesis imperfecta (AI; see this term) and cone-rod retinal dystrophy (CORD; see this term).
Jalili syndrome
Bassoe syndrome
Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome is characterized by congenital muscular dystrophy, infantile cataract and hypogonadism. It has been described in seven individuals from an isolated Norwegian village and in one unrelated individual. Transmission appears to be autosomal recessive.
Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome
Visceral myopathy-familial external ophthalmoplegia syndrome
Oculogastrointestinal muscular dystrophy is an extremely rare autosomal recessively inherited neuromuscular disease characterized by ocular manifestations such as ptosis and diplopia followed by chronic diarrhea, malnutrion and intestinal peudo-obstruction.
Oculogastrointestinal muscular dystrophy
Muscular dystrophy-white matter spongiosis syndrome is a rare neuromuscular disease characterized by slowly progressive congenital myopathy, developmental delay, intellectual impairment, epilepsy, joint contractures and facial dysmorphism. Diffuse spongiosis, ventricular dilatation and hypodensity of the white matter are typical central nervous system findings. There have been no further descriptions in the literature since 1984.
Muscular dystrophy-white matter spongiosis syndrome
LGMD2H
Limb-girdle muscular dystrophy due to TRIM32 deficiency
Sarcotubular myopathy
Autosomal recessive limb-girdle muscular dystrophy type 2H (LGMD2H) is a mild subtype of autosomal recessive limb girdle muscular dystrophy characterized by slowly progressive proximal muscle weakness and wasting of the pelvic and shoulder girdles with onset that usually occurs during the second or third decade of life. Clinical presentation is variable and can include calf psuedohypertrophy, joint contractures, scapular winging, muscle cramping and/or facial and respiratory muscle involvement.
Autosomal recessive limb-girdle muscular dystrophy type 2H
MSBD syndrome
Mixed sclerosing bone dystrophy
Melorheostosis with osteopoikilosis is a rare sclerosing bone dysplasia, combining the clinical and radiological features of melorheostosis and osteopoikilosis (see these terms), that has been reported in some families with osteopoikilosis and that is characterized by a variable presentation of limb pain and deformities.
Melorheostosis with osteopoikilosis
Capillary hyperpermeability syndrome
Capillary leak syndrome
Clarkson disease
Idiopathic capillary leak syndrome
SCLS
Systemic capillary leak syndrome (SCLS) is a severe systemic disease due to increased capillary permeability, characterized by episodes of hypotension, edema and hypovolemia.
Systemic capillary leak syndrome
Ebstein anomaly of the tricuspid valve
Ebstein's malformation is a rare congenital cardiac anomaly characterized by rotational displacement of the septal and inferior leaflets of the tricuspid valve such that they are hinged within the right ventricle, rather than as expected at the atrioventricular junction.
Ebstein malformation
ANOTHER syndrome
HEDH syndrome
Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome is characterised by alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction (primary hypothyroidism), hypohidrosis, ephelides, enteropathy, and respiratory tract infections due to ciliary dyskinesia, leading to suggestion of the acronym ANOTHER syndrome as alternative name for this condition. It has been described in three patients (two brothers and an unrelated girl). Transmission is autosomal recessive.
Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome
Ectodermal dysplasia-sensorineural hearing loss syndrome
Ectodermal dysplasia-sensorineural deafness syndrome is characterised by hidrotic ectodermal dysplasia, sensorineural hearing loss, and contracture of the fifth fingers. It has been described in brother and sister born to consanguineous parents. The girl also presented with thoracic scoliosis. The mode of inheritance is likely to be autosomal recessive.
Ectodermal dysplasia-sensorineural deafness syndrome
Noble-Bass-Sherman syndrome
Ectopia lentis-chorioretinal dystrophy-myopia syndrome is characterised by anomalies of the lens (ectopia and cataracts) and retina (generalized tapetoretinal dystrophy and total retinal detachment). Myopia has also been reported. It has been described in four members of the same family, all resulting from a consanguineous marriage. The mode of transmission is autosomal recessive.
Ectopia lentis-chorioretinal dystrophy-myopia syndrome
Ectopia lentis syndrome
Familial ectopia lentis
Isolated ectopia lentis (IEL) is a rare, clinically variable, eye disorder characterized by dislocation of the lens, often causing significant reduction in visual acuity.
Isolated ectopia lentis
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_1896 with label: EEC syndrome
Ectrodactyly-ectodermal dysplasia without clefting syndrome
KIAA1938
RASA5
SYNGAP
synaptic Ras GTPase activating protein 1
apolipoprotein A2
Clouston syndrome
Clouston syndrome (or hidrotic ectodermal dysplasia) is characterised by the clinical triad of nail dystrophy, alopecia, and palmoplantar hyperkeratosis.
Hidrotic ectodermal dysplasia
Jancar syndrome
Intellectual disability-spasticity-ectrodactyly syndrome is a rare intellectual disability syndrome characterized by severe intellectual disability, spastic paraplegia (with wasting of the lower limbs) and distal transverse defects of the limbs (e.g. ectrodactyly, syndactyly, clinodactyly of the hands and/or feet).
Intellectual disability-spasticity-ectrodactyly syndrome
latent transforming growth factor beta binding protein 3
KIAA0723
MGC9105
VCPDM
matrin 3
S2P
site-2 protease
membrane bound transcription factor peptidase, site 2
homeobox D10
Ectrodactyly-polydactyly syndrome is a rare, genetic, congenital limb malformation disorder characterized by hypoplasia or absence of central digital rays of the hands and/or feet and the presence of one or more, unilateral or bilateral, supernumerary digits on postaxial rays, ranging from hypoplastic digits devoid of osseous structures to complete duplication of a digit. Cutaneous syndactyly, symphalangism and clinodactyly have also been reported. There have been no further descriptions in the literature since 1982.
Ectrodactyly-polydactyly syndrome
XMEA
VMA21, vacuolar ATPase assembly factor
ALX homeobox 3
hsa-mir-96
microRNA 96
SMAD8
SMAD8/9
SMAD family member 9
Kir1.2
Kir4.1
potassium voltage-gated channel subfamily J member 10
latent transforming growth factor beta binding protein 2
use http://www.orpha.net/ORDO/Orphanet_99893 with label: ACTH-independent Cushing syndrome
OBSOLETE: ACTH-independent Cushing syndrome due to bilateral adrenocortical hyperplasia
Primary bilateral macronodular adrenal hyperplasia
ACTH-independent macronodular adrenal hyperplasia (AIMAH) is a rare cause of Cushing syndrome (CS; see this term) characterized by nodular enlargement of both adrenal glands (multiple nodules above 1 cm in diameter) that produce excess cortisol and features of adrenocorticotropic hormone (ACTH) independent CS (see this term).
Cushing syndrome due to macronodular adrenal hyperplasia
PPNAD
Primary pigmented nodular adrenal dysplasia
Primary pigmented nodular adrenocortical disease (PPNAD) is a form of bilateral adrenocortical hyperplasia that is often associated with adrenocorticotrophin hormone (ACTH) independent Cushing syndrome (see this term) and is characterized by small to normal sized adrenal glands containing multiple small cortical pigmented nodules (less than 1 cm in diameter).
Primary pigmented nodular adrenocortical disease
Familial isolated hypoparathyroidism due to impaired PTH secretion
Typus Edinburgensis
Edinburgh malformation syndrome is a rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by consistently abnormal facial appearance, true or apparent hydrocephalus, motor and cognitive developmental delay, failure to thrive (feeding difficulties, vomiting, chest infections) and death within a few months of birth. Carp mouth, hairiness of the forehead, neonatal hyperbilirubinemia and advanced bone age may also be associated. There have been no further descriptions in the literature since 1991.
Edinburgh malformation syndrome
Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome
EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate).
EEC syndrome
Ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome
EEM syndrome
EDS VII
Ehlers-Danlos syndrome type 7
Ehlers-Danlos syndrome, arthrochalasia type
Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility.
Ehlers-Danlos syndrome, arthrochalasis type
2-hydroxyglutaric acidemia
2-Hydroxyglutaric aciduria is a group of neurometabolic disorders with a wide clinical spectrum ranging from severe neonatal presentations to progressive forms, and asymptomatic cases, characterized biochemically by increased levels of 2-hydroxyglutaric acid in the plasma, cerebrospinal fluid and urine.
2-hydroxyglutaric aciduria
Congenital retinal telangiectasia
Leber miliary aneurysm
Coats disease (CD) is an idiopathic disorder characterized by retinal telangiectasia with deposition of intraretinal or subretinal exudates, potentially leading to retinal detachment and unilateral blindness. CD is classically an isolated and unilateral condition affecting otherwise healthy young children.
Coats disease
EDS VIA
EDS, kyphoscoliotic type
EDS, oculoscoliotic type
Ehlers-Danlos syndrome type 6A
Ehlers-Danlos syndrome, oculoscoliotic type
Ehlers-Danlos syndrome, kyphoscoliotic type (EDKT) is a form of Ehlers-Danlos syndrome characterized by severe hypotonia and kyphoscoliosis at birth, generalized joint hyperextensibility and ocular globe fragility.
Ehlers-Danlos syndrome, kyphoscoliotic type
EDS VIIC
Ehlers-Danlos syndrome type 7C
, has been localised to 5q23. The homozygous mutation Q225X was present in 80% of cases subjected to molecular analysis. There is no specific treatment available for this disease, but symptomatic management should be offered in a specialised centre.
Ehlers-Danlos syndrome, dermatosparaxis type
Human ehrlichiosis and anaplasmosis describe a group of acute febrile tick-borne diseases characterized by an overlapping clinical picture that includes fever, headache, myalgias, arthralgias, skin eruptions, gastrointestinal symptoms and neurological manifestations. Diseases in this group include human monocytotropic ehrlichiosis (HME), human granulocytotropic anaplasmosis (HGA), and human ehrlichiosis ewingii (HEE) (see these terms).
Ehrlichiosis
Fetal valproic acid syndrome
Fetal valproate syndrome (FVS), is an anticonvulsant drug-related embryofetopathy that can occur when a fetus is exposed to valproic acid (VPA), characterized by distinct facial dysmorphism, congenital anomalies and developmental delay (especially in language and communication).
Fetal valproate syndrome
Aminopterin embryopathy syndrome
Fetal aminopterin syndrome
Aminopterin/Methotrexate embryofetopathy is a syndrome of developmental anomalies characterized by growth deficiency, facial dysmorphism and skull, limb and neural defects secondary to maternal exposure to aminopterin or methotrexate (MTX) during pregnancy.
Aminopterin/methotrexate embryofetopathy
Fetal indomethacin syndrome
Indomethacin embryofetopathy refers to the manifestations that may be observed in a fetus or newborn when the mother has taken indomethacin, a potent prostaglandin inhibitor and tocolytic agent that can cross placenta, during pregnancy. Reported adverse fetal/neonatal effects include decreased renal function resulting in oligohydramnios, closure of the ductus arteriosus, and delayed cardiovascular adaptation at birth. These effects are usually transient and reversible. Indomethacin may also be a risk factor for cerebral injury (periventricular leukomalacia) and necrotizing enterocolitisin preterm infants.
Indomethacin embryofetopathy
Cockayne syndrome (CS) is a multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit.
Fetal iodine syndrome refers to symptoms and signs that may be observed in a fetus or newborn when the mother was exposed during pregnancy to inappropriate (insufficient or excessive) amounts of iodine. Iodine deficiency is associated with goiter and hypothyroidism. When severe iodine deficiency occurs during pregnancy, it is associated with congenital hypothyroidism that is manifested by increased neonatal morbi-mortality and severe mental dysfunction, hyperactivity, attention disorders and a substantial decrease of IQ of an irreversible nature. Excessive iodine ingestion during the third trimester of pregnancy can result in hypothyroidism and fetal goiter due to a prolonged inhibition of thyroid hormone synthesis, an increase in thyrotropin (TSH).
Fetal iodine syndrome
Fetal cocaine syndrome
to cocaine, a short-acting central nervous system stimulant used as a recreational drug through inhalation of the powder or intravenous injection. Cocaine use during pregnancy is associated with intrauterine growth restriction, low birth weight, seizures, respiratory distress (decreased apnea density and periodic breathing), feeding difficulties, irritability and lability of state, decreased behavioral and autonomic regulation, poor alertness and orientation and cognitive impairment (impaired auditory information processing , visual-spatial delay and subtle language delay) in the offspring.
Cocaine embryofetopathy
Fetal dihydantoin syndrome
Phenytoin embryofetopathy
Fetal hydantoin syndrome is a drug-related embryofetopathy that can occur when an embryo/fetus is exposed to the anticonvulsant drug phenytoin, characterized by distinct craniofacial anomalies (hypertelorism and epicanthal folds, short nose and deep nasal bridge, malformed and low set ears, short neck) as well as hypoplastic distal phalanges and underdevelopment of nails of fingers and toes, prenatal and postnatal growth retardation, and neurological impairment (at a 2-3 times higher risk than that of the general population) including cognitive deficits and motor developmental delay. Less commonly, microcephaly, ocular defects, oral clefts, umbilical and inguinal hernias, hypospadias and cardiac anomalies have also been reported.
Fetal hydantoin syndrome
Fetal trimethadione syndrome is a drug-related embryofetopathy that can occur when an embryo/fetus is exposed to trimethadione and that is characterized by pre- and post-natal growth retardation, intellectual deficit, developmental and speech delay, craniofacial anomalies (with some similarities to those seen in fetal valproate syndrome; see this term), and less commonly, cleft palate, malformations of the heart, urogenital system and limbs. Trimethadione is an antiepileptic drug that has been removed from the market in Europe and is no longer used much in other countries due to teratogenicity and potential side effects.
Fetal trimethadione syndrome
Vitamin K antagonist embryopathy
Warfarin embryofetopathy
Warfarin embryopathy
di Sala syndrome
Vitamin K antagonist embryofetopathy is characterized by a group of symptoms that may be observed in a fetus or newborn when the mother has taken oral vitamin K antagonists, such as warfarin during pregnancy. Vitamin K antagonists are anticoagulant drugs that provide efficient thromboprophylaxis and that can cross the placenta. 5-12 % of infants exposed to warfarin between 6-9 weeks gestation present nasal hypoplasia and skeletal abnormalities, including short limbs and digits (brachydactyly), and stippled epiphyses. Warfarin fetopathy with central nervous system abnormalities (hydrocephalus, intellectual disability, spasticity, and hypotonia) or ocular abnormalities (microphthalmia, cataract, optic atrophy), fetal loss, and stillbirth, occurs in infants exposed at later gestations. Additional features that have been reported after in utero warfarin exposure include facial dysmorphism (cleft lip and/or palate, malformed ears), choanal atresia or stenosis, aorta coarctation, situs inversus totalis, bilobed lungs, and ventral midline dysplasia.
Vitamin K antagonist embryofetopathy
ARBD
ARND
Alcohol-related birth defects
Alcohol-related neurodevelopmental disorder
FAS
FASD
Fetal alcohol spectrum disorders
10th percentile), a unique cluster of minor facial anomalies (short palpebral fissures, flat and smooth philtrum, and thin upper lip) and severe central nervous system (CNS) abnormalities including microcephaly, and cognitive and behavioral impairment (intellectual disability, deficit in general cognition, learning and language, executive function, visual-spatial processing, memory, and attention).
Fetal alcohol syndrome
DES embryofetopathy
DES syndrome
Diethylstilbestrol embryofetopathy
Distilbene embryofetopathy
Diethylstilbestrol (DES) syndrome is a malformation syndrome reported in offspring (children and grandchildren) of women exposed to DES during pregnancy and is characterized by reproductive tract malformations, decreased fertility and increased risk of developing clear cell carcinoma of the vagina and cervix in young women. Reproductive malformations reported in DES syndrome include small, T-shaped uteri and other uterotubal anomalies that increase the risk of miscarriages in women and epididymal cysts, microphallus, cryptorchidism, or testicular hypoplasia in men. DES, a synthetic nonsteroidal estrogen was widely prescribed from 1940-1970 to prevent miscarriage.
Diethylstilbestrol syndrome
Methyl mercury antenatal infection
Minamata disease
Foetal methylmercury syndrome is characterised by a group of symptoms that may be observed in a foetus or newborn when the mother was exposed during pregnancy to excessive amounts of methylmercury.
Fetal methylmercury syndrome
Minoxidil antenatal infection
Fetal minoxidil syndrome is characterized by a group of symptoms that may be observed in a fetus or newborn when the mother has taken minoxidil during pregnancy. Minoxidil is used in the treatment of malignant renal hypertension and as a topical solution to induce scalp hair growth. Hypertrichosis that gradually diminishes during the first six postnatal months has been reported. Additional reported features include cardiac (congenital great vessel transposition and pulmonary valve stenosis), neurodevelopmental (caudal regression sequence) (see these terms), gastrointestinal, renal, and limb malformations. Conclusive studies are however not available.
Fetal minoxidil syndrome
#64257;nger hypoplasia, brachydactyly and hypospadias have been reported in rare cases.
Phenobarbital embryopathy
CLS
Coffin-Lowry syndrome (CLS) is a rare genetic neurological disorder characterized by psychomotor and growth retardation, facial dysmorphism, digit abnormalities, and progressive skeletal changes.
Coffin-Lowry syndrome
Toluene embryopathy is a neurodevelopmental teratologic syndrome due to prenatal exposure to toluene. The disease is characterized by prematurity, low birth weight, dysmorphic features (short palpebral fissures, deep set eyes, low set ears, mid-facial hypoplasia, flat nasal bridge, thin upper lip, micrognathia, spatulate fingertips and small fingernails), central nervous system dysfunctions (intellectual disability, microcephaly, language impairment, hyperactivity, visual dysfunction) and postnatal growth delay. Prenatal exposure to toluene occurs as a result of incidental occupational exposure or solvent abuse during pregnancy. The features of toluene embryopathy often overlap with those seen in fetal alcohol syndrome (see this term).
Toluene embryopathy
MMI/CMZ embryofetopathy
MMI/CMZ embryopathy
Methimazole/carbimazole embryofetopathy
Methimazole/carbimazole embryopathy
Methimazole embryopathy is a teratogenic embryofetopathy that results from maternal exposition to methimazole (MMI; or the parent compound carbimazole) in the first trimester of pregnancy. MMI is an antithyroid thionamide drug used for the treatment of Graves' disease. In the infant, MMI may result in choanal atresia, esophageal atresia, omphalocele, omphalomesenteric duct anomalies, congenital heart disease (such as ventricular septal defect), renal system malformations and aplasia cutis (see these terms). Additional features that may be observed include facial dysmorphism (short upslanting palpebral fissures, a broad nasal bridge with a small nose and a broad forehead) and athelia/hypothelia.
Methimazole embryofetopathy
Diabetic embryopathy is characterized by congenital anomalies or foetal/neonatal complications in an infant that are linked to diabetes in the mother.
Diabetic embryopathy
Hand and foot deformity-flat facies syndrome
Emery-Nelson syndrome is a rare congenital limb malformation syndrome characterized by facial dysmorphism (high forehead, depressed nasal bridge, long philtrum, flat malar region, high arched palate), short stature and deformities of the hands and feet (small hands/feet, flexion contractures of the first three metacarpophalangeal joints, extension contractures of the thumbs at the interphalangeal joints, clawed toes, mild pes cavus). Additional features include neonatal hypotonia, thin and shiny skin of the hands/feet, ridged nails, dry and coarse hair, mild weakness of the orbicularis oculi muscles and occasional ventricular extrasystoles. Intellectual disability may be present. There have been no further descriptions in the literature since 1970.
Emery-Nelson syndrome
Congenital lobar hyperinflation
Infantile lobar hyperinflation
Congenital lobar emphysema (CLE) is a respiratory abnormality characterized by respiratory distress due to hyperinflation of one or more affected lobes of the lung.
Congenital lobar emphysema
Rasmussen syndrome
Rasmussen subacute encephalitis
Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity.
Cohen syndrome
HSE
HSV encephalitis
HSVE
Herpes simplex meningo-encephalitis
Herpes simplex neuroinvasion
Herpetic encephalitis
Herpes simplex virus encephalitis (HSVE) is caused by the infection of the central nervous system by Herpes simplex virus (HSV) that could have a devastating clinical course and a potentially fatal outcome particularly with delay or lack of treatment. HSVE often involves the frontal and temporal lobes, usually asymmetrically, resulting in personality changes, cognitive impairment, aphasia, seizures, and focal weakness.
Herpes simplex virus encephalitis
Anterior encephalocele
Frontal encephalocele
Booth-Haworth-Dilling syndrome
Mitochondrial encephalomyopathy-aminoacidopathy syndrome
mtDNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria is characterised by the association of a mitochondrial encephalomyopathy and an aminoacidopathy. It has been described in two brothers presenting with developmental delay, neurological signs, deafness, exercise intolerance, lactic acidosis and elevation of several plasmatic amino acids. Mitochondria morphology was found to be abnormal on muscle biopsy. Transmission is likely to be linked to maternal mitochondrial DNA.
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
EIEE
Early infantile epileptic encephalopathy with suppression-bursts
Ohtahara syndrome
Early infantile epileptic encephalopathy (EIEE), or Ohtahara syndrome, is one of the most severe forms of age-related epileptic encephalopathies, characterized by the onset of tonic spasms within the first 3 months of life that can be generalized or lateralized, independent of the sleep cycle and that can occur hundreds of times per day, leading to psychomotor impairment and death.
Early infantile epileptic encephalopathy
Early myoclonic encephalopathy with suppression-bursts
Early myoclonic encephalopathy (EME) is characterized clinically by the onset of fragmentary myoclonus appearing in the first month of life, often associated with erratic focal seizures and a suppression-burst EEG pattern.
Early myoclonic encephalopathy
Short stature-locking fingers syndrome
Eng-Strom syndrome is characterised by intrauterine growth retardation and intermittent locking of the finger joints. It has been described in two individuals: a mother and her daughter. The mode of transmission is autosomal dominant.
Eng-Strom syndrome
use http://www.orpha.net/ORDO/Orphanet_449285 with label: Snakebite envenomation
OBSOLETE: Envenomization by Bothrops lanceolatus
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_392 with label: Holt-Oram syndrome
Shoulder and thorax deformity-congenital heart disease syndrome
JAE
Juvenile absence epilepsy (JAE) is a genetic epilepsy with onset occurring around puberty. JAE is characterized by sporadic occurrence of absence seizures, frequently associated with a long-life prevalence of generalized tonic-clonic seizures (GTCS) and sporadic myoclonic jerks.
Juvenile absence epilepsy
Doose syndrome
EMAS
Epilepsy with myoclonic-astatic seizures
Epilepsy with myoclonic-atonic seizures
MAE
Myoclonic atonic epilepsy
Myoclonic-astatic epilepsy in early childhood
Myoclonic Astatic Epilepsy (MAE) is a rare epilepsy syndrome of childhood characterized by the occurrence of multiple different seizure types including myoclonic-astatic, generalized tonic-clonic and absence seizures, usually in previously healthy children.
Myoclonic-astastic epilepsy
Infant epilepsy with migrant focal crisis is characterized by early-onset progressive encephalopathy with migrant, continuous myoclonus. Three cases have been reported. The focal continuous myoclonus appeared during the first months of life. Prolonged bilateral myoclonic seizures and generalized tonic-clonic seizures occurred later. Subsequently, a progressive encephalopathy with hypotonia and ataxia appeared. Cortical atrophy was revealed by computed tomography (CT) scan and magnetic resonance imaging (MRI). The aetiology is unknown.
Early-onset progressive encephalopathy with migrant continuous myoclonus
BECRS
BECTS
BRE
Benign epilepsy of childhood with centrotemporal spikes
Benign familial epilepsy of childhood with rolandic spikes
Benign rolandic epilepsy
Centrotemporal epilepsy
Rolandic epilepsy (RE) is a focal childhood epilepsy characterized by seizures consisting of unilateral facial sensory-motor symptoms, with electroencephalogram (EEG) showing sharp biphasic waves over the rolandic region. It is an age-related epilepsy, with excellent outcome.
Rolandic epilepsy
Epilepsy-dementia-amelogenesis imperfecta syndrome
Kohlschutter-Tonz syndrome
Kohlschütter-Tönz syndrome (KTS) is a genetically heterogeneous autosomal recessive syndrome characterized by the triad of amelogenesis imperfect, infantile onset epilepsy, intellectual disability with or without regression and dementia.
Amelocerebrohypohidrotic syndrome
CLN8 disease, Northern epilepsy variant
NCL, Northern epilepsy variant
Neuronal ceroid lipofuscinosis, Northern epilepsy variant
Northern epilepsy
Progressive epilepsy-intellectual deficit, Finnish type (also known as Northern epilepsy) is a subtype of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by seizures, progressive decline of intellectual capacities and variable loss of vision.
Progressive epilepsy-intellectual disability syndrome, Finnish type
Battaglia-Neri syndrome
Epilepsy-microcephaly-skeletal dysplasia syndrome is characterized by the association of moderate to severe intellectual deficit, microcephaly, epilepsy, coarse face, hirsutism and skeletal abnormalities (scoliosis and retarded bone development). It has been described only once, in two sibs (one male and one female). This syndrome is likely to be an autosomal recessive condition and thus parents should be informed of a 25% risk of recurrence for other children.
Epilepsy-microcephaly-skeletal dysplasia syndrome
BFNS
Benign familial neonatal convulsions
Benign familial neonatal seizures
Benign familial neonatal epilepsy (BFNE) is a rare genetic epilepsy syndrome characterized by the occurrence of afebrile seizures in otherwise healthy newborns with onset in the first few days of life.
Benign familial neonatal epilepsy
CES
Cat eye syndrome (CES) is a rare chromosomal disorder with a highly variable clinical presentation. Most patients have multiple malformations affecting the eyes (iris coloboma), ears (preauricular pits and/or tags), anal region (anal atresia), heart and kidneys. Intellectual disability is usually mild or borderline normal.
Cat-eye syndrome
Epilepsy telangiectasia syndrome is characterized by intellectual deficit, epilepsy, palpebral conjunctival telangiectasias and diminished serum IgA, particular facies and a shortened fifth finger. It has been reported in six siblings from a Mexican family. It is probably transmitted as an autosomal recessive trait.
Epilepsy-telangiectasia syndrome
Epiphyseal stippling syndrome-osteoclastic hyperplasia syndrome
Pacman dysplasia is characterized by epiphyseal stippling and osteoclastic overactivity. It has been described in less than 10 patients but may be underdiagnosed. It is characterized radiographically by severe stippling of the lower spine and long bones, and periosteal cloaking. Patients also have short metacarpals. The syndrome may be inherited as an autosomal recessive trait. This disorder should be included in the differential diagnosis of mucolipidosis type II. In order to make a definitive diagnosis, lysosomal storage should be investigated by electron microscopy, or enzyme assays should be performed. Familial recurrence can be easily detected by prenatal ultrasonography. This skeletal dysplasia is lethal.
Pacman dysplasia
Congenital lethal erythroderma is a rare skin disorder characterized by erythrodermic, peeling skin from birth with no obvious nail or hair-shaft abnormalities and other associated anomalies including diarrhea, failure to thrive and severe hypoalbuminaemia resistant to correction by enteral or intravenous supplementation. An autosomal recessive mode of inheritance is highly probable. The prognosis is poor and infants die in the first months of life. There have been no further descriptions in the literature since 1992.
Congenital lethal erythroderma
Erythrokeratodermia with ataxia
SCA34
Spinocerebellar ataxia and erythrokeratodermia
Spinocerebellar ataxia type 34 (SCA34) is a subtype of autosomal dominant cerebellar ataxia type I (ADCA type I; see this term), characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes.
Spinocerebellar ataxia type 34
Erythromelalgia is a rare, genetic, peripheral neuropathy characterized by usually intermittent, often bilateral and symmetrical, paroxysmal hyperthermia of the extremities resulting in intense burning sensation, pain, elevated skin temperature, erythema, edema and numbness, which typically worsens with hot environments, exercise, and/or nighttime. Lower limbs are more commonly involved than upper ones, but face and trunk involvement have also been observed.
Erythromelalgia
Olfactory neuroblastoma
Esthesioneuroblastoma (ENB) is a rare malignant neoplasm of the sinonasal cavity, arising from the basal layers of olfactory neuroepithelial cells in the superior nasal vault, which usually occurs in the 5th to 6th decades of life and is characterized clinically by non-specific symptoms such as progressive ipsilateral nasal block, sinusitis, facial pain, intermittent headaches, hyposmia/dysosmia, rhinorrhea and epistaxis as well as proptosis, diplopia and excessive lacrimation due to orbital extension. With early treatment and in the absence of distant metastases, ENB appears to have a good prognosis (compared to other superior nasal malignancies), despite a high rate of cervical metastases.
Esthesioneuroblastoma
Autoimmune hemolytic anemia and autoimmune thrombocytopenia
Immune pancytopenia
Evans syndrome is a rare chronic hematologic disorder characterized by the simultaneous or sequential association of autoimmune hemolytic anemia (AIHA; a disorder in which auto-antibodies are directed against red blood cells causing anemia of varying degrees of severity) with immune thrombocytopenic purpura (ITP; a coagulation disorder in which auto-antibodies are directed against platelets causing hemorrhagic episodes) (see these terms) and occasionally autoimmune neutropenia, in the absence of a known underlying etiology.
Evans syndrome
Exostoses-anetodermia-brachydactyly type E syndrome is an association reported in a single kindred characterized by the variable presence of the following features: anetodermia (macular atrophy of the skin), multiple exostoses, and brachydactyly type E (see this term). There have been no further descriptions in the literature since 1985.
Exostoses-anetodermia-brachydactyly type E syndrome
Char-Douglas-Dungan syndrome
Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome is a rare, genetic, malformation syndrome with short stature characterized by microcephaly, borderline intellectual disability, hyperpigmentation of the skin, short stature, and ventricular extrasystoles. Cardiac syncope may also be associated. There have been no further descriptions in the literature since 1975.
Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome
Blepharophimosis-telecanthus-microstomia syndrome
Simosa craniofacial syndrome
Simosa-Penchaszadeh-Bustos syndrome
Flat face-microstomia-ear anomaly syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by dysmorphic facial features, including high forehead, elongated and flattened midface, arched and sparse eyebrows, short palpebral fissures, telecanthus, long nose with hypoplastic nostrils, long philtrum, high and narrow palate and microstomia with downturned corners. Ears are characteristically malformed, large, low-set and posteriorly rotated and nasal speech is associated. There have been no further descriptions in the literature since 1994.
Flat face-microstomia-ear anomaly syndrome
FACES syndrome
Friedman-Goodman syndrome
Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (mild eyelid ptosis, xanthelasma, anterverted nostrils, bifid nasal tip, short palate), severe muscle wasting and cachexia, retinitis pigmentosa, numerous lentigines and café-au-lait spots, as well as mild, soft tissue syndactyly. Additional features include nasal speech, chest asymmetry, pectus excavatum, genu varum, pes planus, and thyroid papillary carcinoma and diffuse enlargement. There have been no further description in the literature since 1984.
Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome
Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome is characterised by Dandy-Walker malformation, severe intellectual deficit, macrocephaly, brachytelephalangy, facial dysmorphism and severe myopia. Three cases have been described. Transmission appears to be autosomal recessive.
Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome
Lethal faciocardiomelic dysplasia is an extremely rare polymalformative syndrome.
Lethal faciocardiomelic dysplasia
Eastman-Bixler syndrome
Faciocardiorenal syndrome is a very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects.
Faciocardiorenal syndrome
Aarskog-like syndrome
Facio-digito-genital syndrome, Kuwait type
Teebi-Naguib-Alawadi syndrome
Autosomal recessive facio-digito-genital syndrome is a very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum.
Autosomal recessive faciodigitogenital syndrome
Combined insulin, insulin-like growth factor 1 (IGF1) and epidermal growth factor (EGF) deficiency
Hoepffner-Dreyer-Reimers syndrome
Werner-like syndrome due to combined growth factor deficiency
Deficiency of the peptidic growth factors is characterized by loss of subcutaneous fat layers on the limbs, lipodystrophy in the face and trunk and scleroderma-like skin disorders (thickened skin on the palms and soles and skin pigment changes on the limbs and trunk).
Lipodystrophy due to peptidic growth factors deficiency
EDS IX
Ehlers-Danlos syndrome type 9
Ehlers-Danlos syndrome type IX
X-linked cutis laxa
Occipital horn syndrome (OHS) is a mild form of Menkes disease (MD, see this term), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect.
Occipital horn syndrome
BSPDC
Cerebrovascular ferrocalcinosis
Idiopathic basal ganglia calcification
PFBC
Primary familial brain calcification
Bilateral striopallidodentate calcinosis (BSPDC, also erroneously called Fahr disease) is characterized by the accumulation of calcium deposits in different brain regions, particularly the basal ganglia and dentate nucleus, and is often associated with neurodegeneration.
Bilateral striopallidodentate calcinosis
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_2697 with label: Arthrogryposis-renal dysfunction-cholestasis syndrome
Fanconi syndrome-ichthyosis-dysmorphism syndrome
Bifid femur-monodactylous ectrodactyly syndrome
Gollop-Wolfgang complex is a very rare malformation characterized by ectrodactyly of the hand and ipsilateral bifurcation of the femur.
Gollop-Wolfgang complex
Congenital short femur
Femoral intercalary meromelia
Congenital short femur is a rare malformation of variable severity ranging from mild hypoplasia to complete absence of the femur.
Femoral agenesis/hypoplasia
FFS
FHUFS
Femoral hypoplasia-unusual facies syndrome
Femoral-facial syndrome is characterized by predominant femoral hypoplasia (bilateral or unilateral) and unusual facies.
Femoral-facial syndrome
Brachmann-de Lange syndrome
Cornelia de Lange syndrome
Tessier cleft number 1,2
Cleft lip with or without cleft palate
Pulmonary capillary hemangiomatosis
Nelson syndrome
Transcortin deficiency
Corticosteroid-binding globulin deficiency is a rare, genetic, adrenal disease characterized by diminished corticosteroid-binding capacity associated with normal or low plasma corticosteroid-binding globulin concentration and reduced total plasma cortisol levels. Patients typically present chronic pain, fatigue and hypo/hypertension.
Corticosteroid-binding globulin deficiency
Plantar fibromatosis
Ledderhose disease
Superficial fibromatosis
Juvenile aponeurotic fibromatosis
Keasby tumor
Calcifying aponeurotic fibroma
Inclusion body fibromatosis
Recurring digital fibrous tumor of childhood
Reye tumor
Infantile digital fibromatosis is a rare, benign, superficial fibromatosis characterized by firm, pinkish to flesh-colored, solitary or multiple nodular growths, typically less than 2 cm in size. They occur on the dorsal or lateral aspect of fingers and toes and have a tendency to recur. Histology reveals bland intradermal spindle cells with spherical perinuclear inclusion bodies.
Infantile digital fibromatosis
Familial multiple lipomatosis is a rare, benign, genetic skin disease characterized by numerous, painless, encapsulated lipomas located in the subcutaneous adipose tissue of the trunk and extremities, with relative sparing of the neck and shoulders. Association with gastroduodenal lipomatosis, brain anomalies or lipomatosis, and refractory epilepsy has been reported.
Familial multiple lipomatosis
Familial angiolipomatosis is a rare, genetic, subcutaneous tissue disorder characterized by the presence of benign, usually multiple, subcutaneous tumors composed of adipose tissue and blood vessels, typically manifesting as yellow, firm, circumscribed, 1-4 cm in diameter tumors located in the arms, legs and trunk, with deep extension of the lesions between muscles, tendons and joint capsules (without infiltration of these structures), in several members of a single family. Tumors may be tender or mildly painful when palpated and do not regress spontaneously.
Familial angiolipomatosis
Progressive isolated segmental anhidrosis
Harlequin syndrome (HSD) is an autonomic disorder occurring at any age and characterized by unilateral flushing and sweating, involving the face and sometimes arm and chest, in condition of thermal, exercise or emotional stress without sympathetic ocular manifestations. However, tonic pupils, parasympathetic oculomotor lesion and pre- or postganglionic sudomotor sympathetic deficit can rarely occur.
Harlequin syndrome
Hereditary hypercarotenemia and vitamin A deficiency is an extremely rare metabolic disorder characterized clinically by skin discoloration, elevated levels of carotene and low levels of vitamin A described in fewer than 5 patients to date.
Hereditary hypercarotenemia and vitamin A deficiency
Congenital microgastria is a rare malformation where the embryological development of the stomach is interrupted, leading to an abnormally small foregut in newborns and characterized by extreme feeding intolerance and malnutrition along with growth retardation and death if untreated. It is usually associated with multiple congenital anomalies.
Congenital microgastria
Congenital isolated ACTH deficiency
Late-onset isolated ACTH deficiency is a rare, acquired, pituitary hormone deficiency characterized by secondary adrenal insufficiency, with normal secretion of anterior pituitary hormones, except for ACTH. Patients present with weakness, fatigue, weight loss, anorexia, vomiting/nausea, hypoglycemia, and abnormally low serum ACTH and cortisol levels. Association with autoimmune disease such as Hashimoto's thyroiditis has been described.
Late-onset isolated ACTH deficiency
Median cleft of the upper lip-corpus callosum lipoma-cutaneous polyps syndrome
Pai syndrome is an idiopathic developmental disorder characterized by median cleft of the upper lip (MCL), midline polyps of the facial skin and nasal mucosa, and pericallosal lipomas. Hypertelorism with ocular anomalies are also observed, generally with normal neuropsychological development.
Pai syndrome
Isolated cleft lip is a fissure type embryopathy extending from the upper lip to the nasal base.
Isolated cleft lip
Alveolar cleft lip and palate
Cleft lip and palate
Cleft lip-alveolus-palate syndrome
FLP
Cleft lip and palate is a fissure type embryopathy extending across the upper lip, nasal base, alveolar ridge and the hard and soft palate.
Cleft lip/palate
46,XX/46,XY chimerism
Tetragametic chimerism is a rare, sex chromosome disorder of sex development characterized by the two different haploid sets of maternal and paternal chromosomes and variable phenotype - from normal male or female genitalia, to different degrees of ambiguous genitalia, and often infertility. Also, in the cases of monochorionic dizygotic twins, it can be confined to blood of both twins.
Tetragametic chimerism
Familial clubfoot with or without associated lower limb anomalies is a rare congenital limb malformation syndrome characterized by malalignment of the bones and joints of the foot and ankle, with presence of forefoot and midfoot adductus, hindfoot varus, and ankle equinus, presenting as rigid inward turning of the foot towards the midline, in various members of a single family. Hypoplasia of lower leg muscles is a frequently associated finding. Patients may present with other low-limb malformations, such as patellar hypoplasia, oblique talus, tibial hemimelia, and polydactyly.
Familial clubfoot with or without associated lower limb anomalies
Monosomy 15q13.3
15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features.
15q13.3 microdeletion syndrome
Endophthalmitis
Isolated autosomal dominant hypomagnesemia, Glaudemans type (IADHG) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by low serum magnesium (Mg) values but normal urinary Mg values. The typical clinical features are recurrent muscle cramps, episodes of tetany, tremor, and muscle weakness, especially in distal limbs. The disease is potentially fatal.
Isolated autosomal dominant hypomagnesemia, Glaudemans type
Paradas type congenital myopathy is an early-onset form of dysferlinopathy presenting with postnatal hypotonia, weakness in the proximal lower limbs and neck flexor muscles at birth and delayed motor development.
Congenital myopathy, Paradas type
ECO syndrome
Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality.
Endocrine-cerebro-osteodysplasia syndrome
This syndrome is characterized by exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis.
Pancreatic insufficiency-anemia-hyperostosis syndrome
Selcen type muscular dystrophy is characterized by progressive limb and axial muscle weakness associated with cardiomyopathy and severe respiratory insufficiency during adolescence. The disease manifests during childhood and progresses rapidly.
Muscular dystrophy, Selcen type
SeSAME syndrome
Seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome
SeSAME syndrome is characterized by seizures, sensorineural deafness, ataxia, intellectual deficit, and electrolyte imbalance (hypokalemia, metabolic alkalosis, and hypomagnesemia).
EAST syndrome
Thiamine-responsive encephalopathy is a Wernicke-like encephalopathy (see this term) characterized by seizures responsive to high doses of thiamine.
Thiamine-responsive encephalopathy
Dystonia-parkinsonism, Paisan-Ruiz type
PLA2G6-related dystonia-parkinsonism
Adult-onset dystonia-parkinsonism is a rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline.
Adult-onset dystonia-parkinsonism
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
Maeda syndrome
CARASIL is a hereditary cerebral small vessel disease characterized by early-onset gait disturbances, premature scalp alopecia, ischemic stroke, acute mid to lower back pain and progressive cognitive disturbances leading to severe dementia.
CARASIL
Ausems-Wittebol Post-Hennekam syndrome
Cleft lip-cone rod dystrophy syndrome
Cleft lip-progressive retinopathy syndrome
Cleft lip - retinopathy is an exceedingly rare association characterized by cleft lip and progressive retinopathy.
Cleft lip-retinopathy syndrome
Atypical autism is a pervasive developmental disorder that does not fit the diagnosis for the other specific autistic spectrum disorders (autism, Asperger syndrome, Rett syndrome or childhood disintegrative disorder; see these terms) and is characterized by usually milder developmental and social delay and less stereotypical autistic behavior. '
Atypical autism
Isolated cerebellar vermis hypoplasia is a rare, non-syndromic cerebellar malformation characterized by an underdeveloped cerebellar vermis. Patients may present a variable phenotype ranging from normal neurodevelopment to motor and/or language delay, variable degrees of cognitive impairment, hypotonia, equilibrium disturbances, static/dynamic ataxia, oculomotor abnormalities, epilepsy and/or clumsiness. Behavioral disorders such as attention deficit hyperactivity disorder and generalized anxiety have also been reported. Brain MRI may reveal diffuse or selective (mostly posterior) vermian cerebellar hypoplasia and EEG may show focal paroxysms.
Isolated cerebellar vermis hypoplasia
Brain malformation
Cerebral malformation
Syndrome with corpus callosum agenesis/dysgenesis as a major feature
Isolated congenital microcephaly
Isolated encephalocele
BCD syndrome
Blepharocheilodontic syndrome
Clefting-ectropion-conical teeth syndrome
Ectropion inferior-cleft lip and/or palate syndrome
Elsching syndrome
Lagophthalmia-cleft lip and palate syndrome
Blepharo-cheilo-odontic syndrome is an ectodermal dysplasia syndrome characterized by the association of abnormalities of the eyelids, lips, and teeth.
Blepharo-cheilo-odontic syndrome
GABA(A) receptor, alpha 3
gamma-aminobutyric acid type A receptor alpha3 subunit
cadherin 15
KIAA1867
KIRRE
NEPH2
kirre like nephrin family adhesion molecule 3
3-hydroxy-3-methylglutaryl-CoA lyase deficiency
HMG-CoA lyase deficiency
Hydroxymethylglutaric aciduria
3-hydroxy-3-methylglutaric aciduria (3HMG) is an organic aciduria, due to deficiency of 3-hydroxy-3-methylglutaryl-CoA-lyase (a key enzyme in ketogenesis and leucine metabolism) usually presenting in infancy with episodes of metabolic decompensation triggered by periods of fasting or infections, which when left untreated are life-threatening and may lead to neurological sequelae.
3-hydroxy-3-methylglutaric aciduria
Paroxysmal dystonia
McPherson-Clemens syndrome
Cleft lip/palate-intestinal malrotation-cardiopathy is a multiple congenital anomaly syndrome characterized by flat face, hypertelorism, flat occiput, upward slanting palpebral fissures, cleft palate, micrognathia, short neck, and severe congenital heart defects. Malrotation of the intestine, bilateral clinodactyly, bilobed tongue, short fourth metatarsals and bifid thumbs may be additionally observed.
Cleft lip/palate-intestinal malrotation-cardiopathy syndrome
Lowry-Yong syndrome
Cleft lip/palate-deafness-sacral lipoma syndrome is characterised by cleft lip/palate, profound sensorineural deafness, and a sacral lipoma. It has been described in two brothers of Chinese origin born to non consanguineous parents. Additional findings included appendages on the heel and thigh, or anterior sacral meningocele and dislocated hip. The mode of inheritance is probably autosomal or X-linked recessive.
Cleft lip/palate-deafness-sacral lipoma syndrome
LTEC
Laryngo-tracheo-esophageal cleft
Laryngo-tracheo-esophageal diastema
A laryngo-tracheo-esophageal cleft (LC) is a congenital malformation characterized by an abnormal, posterior, sagittal communication between the larynx and the pharynx, possibly extending downward between the trachea and the esophagus.
Laryngotracheoesophageal cleft
), typically manifesting as otitis, sinusitis, bronchitis, pneumonia, and/or meningitis. Autoimmune disease (e.g. systemic lupus erythematosus, glomerulonephritis) and atypical hemolytic uremic syndrome may be associated. Laboratory serum analysis reveals, in addition to diminished or undetectable complement factor I, variably decreased complement C3, complement factor B and complement factor H.
Immunodeficiency with factor I anomaly
), renal impairment and/or autoimmune diseases, typically manifesting with otitis media, bronchitis, meningitis, and/or septicemia, as well as hematuria/proteinuria, asthma, nephrotic syndrome, hemolytic uremic syndrome, glomerulonephritis, and/or systemic lupus erythematosus. Laboratory serum analysis reveals, in addition to factor H deficiency, decreased complement factor B, properin, complement C3 and terminal complement components.
Immunodeficiency with factor H anomaly
use http://www.orpha.net/ORDO/Orphanet_93941 with label: Laryngotracheoesophageal cleft type 4
OBSOLETE: Laryngo-tracheo-esophageal cleft-pulmonary hypoplasia syndrome
Median cleft lower facial stage
Midline cleft of lower lip is a rare anomaly defined as Cleft No. 30 in Tessier's classification.
Median cleft lip/mandibule
Alar cartilages hypoplasia- coloboma- telecanthus is a very rare dysmorphic disorder characterized by hypoplasia and coloboma of the alar cartilages and telecanthus described in 2 sisters. No new cases with similar features have been reported since 1976.
Alar cartilages hypoplasia-coloboma-telecanthus syndrome
solute carrier family 25 member 38
ACFS
CCGE syndrome
Cleft palate-cardiac defect-genital anomalies-ectrodactyly syndrome
Acro-cardio-facial syndrome (ACFS) is a rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital anomalies, and intellectual deficit.
Acrocardiofacial syndrome
ARA9
FKBP16
XAP2
aryl hydrocarbon receptor interacting protein
KIP1
P27KIP1
cyclin dependent kinase inhibitor 1B
Cowden disease
Multiple hamartoma syndrome
mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS; see this term) group.
Cowden syndrome
Cleft palate - stapes fixation - oligodontia is characterized by cleft soft palate, severe oligodontia of the deciduous teeth, absence of the permanent dentition, bilateral conductive deafness due to fixation of the footplate of the stapes, short halluces with a wide space between the first and second toes, and fusion of carpal and tarsal bones. It has been described in two sisters of Swedish extraction. An autosomal recessive mode of inheritance is likely. There have been no further descriptions in the literature since 1971.
Cleft palate-stapes fixation-oligodontia syndrome
MODY9
paired box 4
epidermal growth factor
KIAA0578
neurexin 1
BRCA1 associated RING domain 1
GCAP2
RP48
guanylate cyclase activator 1B
DEHAL1
iodotyrosine deiodinase
GPI-HBP1
endothelial cell LPL transporter
glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1
AKT serine/threonine kinase 2
myeloid differentiation primary response 88
MALT2
MIHC
RNF49
TNFR2-TRAF signaling complex protein
apoptosis inhibitor 2
c-IAP2
cIAP2
hiap-1
inhibitor of apoptosis protein 1
mammalian IAP homolog C
baculoviral IAP repeat containing 3
immunoglobulin heavy locus
12CC4
HSPC215
PAX5/FOXP1 fusion protein
QRF1
fork head-related protein like B
glutamine-rich factor 1
hFKH1B
forkhead box P1
growth hormone secretagogue receptor
A2AP
AAP
ALPHA-2-PI
API
alpha-2-antiplasmin
alpha-2-plasmin inhibitor
serpin family F member 2
CD3g molecule
corticosteroid binding globulin
transcortin
serpin family A member 6
CRACM1
calcium release-activated calcium modulator 1
ORAI calcium release-activated calcium modulator 1
Say-Barber-Hobbs syndrome
Cleft palate-large ears-small head syndrome is a rare, genetic syndrome characterized by cleft palate, large protruding ears, microcephaly and short stature (prenatal onset). Other skeletal abnormalities (delayed bone age, distally tapering fingers, hypoplastic distal phalanges, proximally placed thumbs, fifth finger clinodactyly), Pierre Robin sequence, cystic renal dysplasia, proximal renal tubular acidosis, hypospadias, cerebral anomalies on imaging (enlargement of lateral ventricles, mild cortical atrophy), seizures, hypotonia and developmental delay are also observed.
Cleft palate-large ears-small head syndrome
GOK
stromal interaction molecule 1
Cleft palate is a fissure type embryopathy that affects the soft and hard palate to varying degrees.
Cleft palate
COX4-2
COX4B
COXIV-2
cytochrome c oxidase subunit IV-like 2
cytochrome c oxidase subunit 4I2
BAG family molecular chaperone regulator 3
BCL2 associated athanogene 3
KIAA0936
LCK2
MAK-related kinase
MRK
serine/threonine-protein kinase ICK
intestinal cell kinase
Mathieu-De Broca-Bony syndrome
Cleft palate- short stature- vertebral anomalies is a multiple congenital anomalies syndrome described in a father and son characterized by the association of cleft palate, peculiar facies (asymmetrical appearance, inner epicanthal folds, short nose, anteverted nostrils, low and back-oriented ears, thin upper lip and micrognathism), short stature, short neck , vertebral anomalies and intellectual disability. The transmission is presumed to be autosomal dominant. There have been no further descriptions in the literature since 1993.
Cleft palate-short stature-vertebral anomalies syndrome
POTX
PTX1
paired like homeodomain 1
LYR motif containing 8
LYRM8
succinate dehydrogenase complex assembly factor 1
DFNA69
FPH2
KL-1
Kitl
SCF
SLF
familial progressive hyperpigmentation 2
mast cell growth factor
steel factor
stem cell factor
KIT ligand
KIAA0021
MCMP
MDC9
Mltng
meltrin gamma
ADAM metallopeptidase domain 9
PC4
TIS7
interferon related developmental regulator 1
coenzyme Q9
2P1
NADH:ubiquinone oxidoreductase complex assembly factor 3
MGC8685
class IIb beta-tubulin
tubulin beta 2B class IIb
KIAA0657
obscurin like 1
KLHL6
RP42
SBBI26
retinitis pigmentosa 42
kelch like family member 7
glypican proteoglycan 6
glypican 6
C2F
Grcc2f
NEP1
EMG1, N1-specific pseudouridine methyltransferase
RNASE6PL
ribonuclease T2
translational activator of cytochrome c oxidase I
AGS5
Aicardi-Goutieres syndrome 5
HD domain containing 1
HDDC1
MOP-5
Mg11
SBBI88
monocyte protein 5
SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1
glia-activating factor
fibroblast growth factor 9
F-TCF
HGFB
HPTA
fibroblast-derived tumor cytotoxic factor
hepatopoietin A
lung fibroblast-derived mitogen
scatter factor
hepatocyte growth factor
P5C
pyrroline-5-carboxylate reductase 1
CPLS syndrome
Cleft palate-lateral synechia syndrome (CPLS) is a congenital malformation syndrome characterized by the association of cleft palate and intra-oral lateral synechiae connecting the free borders of the palate and the floor of the mouth. CPLS is presumed to be inherited in an autosomal dominant manner.
Cleft palate-lateral synechia syndrome
Cleft sternum
Sternum bifidum
Sternal cleft (SC) is a rare idiopathic congenital thoracic malformation characterized by a sternal fusion defect, that can be complete or partial (either superior or inferior), that is usually asymptomatic in the neonatal period (apart from a paradoxical midline thoracic bulging) but that can lead to dyspnea, cough, frequent respiratory infections and increased risk of trauma-related injury to the heart, lungs and major vessels if left untreated.
Sternal cleft
TREB36
activating transcription factor 1
FFU complex
Femur-fibula-ulna dysostosis
Femur-fibula-ulna syndrome
PFFD
Femur-fibula-ulna (FFU) complex is a non-lethal congenital anomaly of unknown etiology, more frequently reported in males than females, characterized by a highly variable combination of defects of the femur, fibula, and/or ulna, with striking asymmetry, including absence of the proximal part of the femur, absence of the fibula and malformation of the ulnar side of the upper limb. Axial skeleton, internal organs and intellectual function are usually normal.
Femur-fibula-ulna complex
Alopecia-deafness-hypogonadism syndrome
Alopecia-sensorineural deafness-hypogonadism syndrome
Crandall syndrome is characterized by progressive sensorineural deafness, alopecia and hypogonadism with LH and GH deficiencies. It has been described in three brothers. It resembles Björnstad's syndrome (see this term) that combines irregular pili torti and deafness. It is probably inherited as and autosomal recessive disorder.
Crandall syndrome
CFTDM
Congenital fiber type disproportion myopathy (CFTDM) is a rare type of myopathy characterized by hypotonia and mild to severe generalized muscle weakness present at birth or within the first year of life.
Congenital fiber-type disproportion myopathy
Fibrochondrogenesis is a rare, neonatally lethal, rhizomelic chondrodysplasia. Eleven cases have been reported. The face is distinctive and characterized by protuberant eyes, flat midface, flat small nose with anteverted nares and a small mouth with long upper lip. Cleft palate, micrognathia and bifid tongue can occur. The limbs show marked shortness of all segments with relatively normal hands and feet. No internal anomalies other than omphalocele have been reported. Transmission is probably autosomal recessive. Recurrence in a consanguineous family (affecting both sexes) and concordance of affected male twins have been reported.
Fibrochondrogenesis
Endomyocardial fibroelastosis is a cause of unexplained childhood cardiac insufficiency. It results from diffuse thickening of the endocardium leading to dilated myocardiopathy in the majority of cases and restrictive myocardiopathy in rare cases. It may occur as a primary disorder or may be secondary to another cardiac malformation, notably aortic stenosis or atresia.
Endomyocardial fibroelastosis
UPS
Undifferentiated pleomorphic sarcoma (UPS) is an aggressive sarcoma of soft tissues or bone that can arise from any part of the body, clinically presenting as swelling, mass, pain, pathological fracture and occasional systemic features and is characterized by high local recurrence and significant metastasis.
Undifferentiated pleomorphic sarcoma
Autosomal dominant gingival fibromatosis
Autosomal dominant gingival hyperplasia
Hereditary gingival hyperplasia
Hereditary gingival fibromatosis (HGF) is a rare benign, slowly progressive, non-inflammatory fibrous hyperplasia of the maxillary and mandibular gingivae that generally occurs with the eruption of the permanent (or more rarely the primary) dentition or even at birth. It presents as a localized or generalized, smooth or nodular overgrowth of the gingival tissues of varying severity. It can be isolated, with autosomal dominant inheritance, or as part of a syndrome.
Hereditary gingival fibromatosis
Gingival fibromatosis - facial dysmorphism is a very rare syndrome characterized by the association of gingival fibromatosis and craniofacial dysmorphism.
Gingival fibromatosis-facial dysmorphism syndrome
CGHT
Congenital generalized hypertrichosis terminalis
Hirsutism-congenital gingival hyperplasia syndrome
Hypertrichosis with or without gingival hyperplasia
Gingival fibromatosis - hypertrichosis syndrome is a rare autosomal dominant disorder characterized by a generalized enlargement of the gingiva occurring at birth or during childhood that is associated with generalized hypertrichosis developing at birth, during the first years of life, or at puberty and predominantly affecting the face, upper limbs, and midback.
Gingival fibromatosis-hypertrichosis syndrome
Jones syndrome
Gingival fibromatosis-progressive deafness syndrome is characterized by gingival fibromatosis associated with progressive sensorineural hearing loss. It has been described in two families (with at least 16 affected members spanning five generations in one of the families, and five affected members spanning three generations in the other family). It is transmitted as an autosomal dominant trait.
Gingival fibromatosis-progressive deafness syndrome
Murray-Puretic-Drescher syndrome
Puretic syndrome
Juvenile hyaline fibromatosis (JHF) is a rare bone dysplasia, characterized by papulo-nodular skin lesions (especially around the head and neck), soft tissue masses, gingival hypertrophy, joint contractures, and osteolytic bone lesions in variable degrees. Joint contractures may cripple patients and delay normal motor development if occuring in infancy. Severe gingival hyperplasia can interfere with eating and delay dentition. Histopathology analysis of involved tissues reveals cords of spindle-shaped cells embedded in an amorphous, hyaline material. JHF is a mild form of infantile systemic hyalinosis (see this term).
Juvenile hyaline fibromatosis
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_636 with label: Neurofibromatosis type 1
Anomaly of puberty or/and menstrual cycle of genetic origin
Syndromic microphthalmia
Syndromic microphthalmia-anophthalmia-coloboma
Fibrosarcoma
Thompson-Baraitser syndrome
Hepatic fibrosis-renal cysts-intellectual disability syndrome is a rare, syndromic intellectual disability characterized by early developmental delay with failure to thrive, intellectual disability, congenital hepatic fibrosis, renal cystic dysplasia, and dysmorphic facial features (bilateral ptosis, anteverted nostrils, high arched palate, and micrognathia). Variable additional features have been reported, including cerebellar anomalies, postaxial polydactyly, syndactyly, genital anomalies, tachypnea. There have been no further descriptions in the literature since 1987.
Hepatic fibrosis-renal cysts-intellectual disability syndrome
CFA
Cryptogenic fibrosing alveolitis
UIP
Usual interstitial pneumonia
Idiopathic pulmonary fibrosis (IPF) is a nonneoplastic pulmonary disease that is characterized by the formation of scar tissue within the lungs in the absence of any known cause.
Idiopathic pulmonary fibrosis
, respectively. Tropical eosinophilia is considered a frequent manifestation.
Filariasis
, and the most common cause of acquired lymphedema worldwide. LF is endemic to tropical and subtropical regions. The vast majority of infected patients are asymptomatic but it can also cause a variety of clinical manifestations, including limb lymphedema, genital anomalies (hydrocele, chylocele), elephantiasis in later stages of the disease (frequently in the lower extremities), and tropical pulmonary eosinophilia (nocturnal paroxysmal cough and wheezing, weight loss, low-grade fever, adenopathy, and pronounced blood eosinophilia). Renal involvement (hematuria, proteinuria, nephritic syndrome, glomerulonephritis), and mono-arthritis of the knee or ankle joint have also been reported.
Lymphatic filariasis
Finlay-Marks syndrome
Scalp-ear-nipple syndrome is characterised by the following triad: areas of hairless raw skin over the scalp (present at birth and healing during childhood), prominent, hypoplastic ears with almost absent pinnae, and bilateral amastia. Thirty cases have been described so far. Renal and urinary tract abnormalities, as well as cataract, have also been observed. Transmission is autosomal dominant.
Scalp-ear-nipple syndrome
Congenital aortopulmonary artery fistula
Congenital aortopulmonary septal defect
Congenital aortopulmonary window
PAVM
Pulmonary arteriovenous malformation (PAVM) describes an anatomic communication between a pulmonary artery and a pulmonary vein leading to a right to left extracardiac shunt that can be asymptomatic or can lead to varying manifestations such as dyspnea, hemoptysis, and neurological symptoms.
Pulmonary arteriovenous malformation
Congenital systemic arteriovenous fistula is a rare, potentially life-threatening, vascular malformation characterized by a direct communication between an artery and a vein, without the interposition of the capillary bed, ocurring in the systemic circulation (mainly the cranium, liver, lungs, extremities, and vessels in or near the thoracic wall). Manifestations are variable depending on size and extent of the fistula, the involved blood vessels and the precise location of the collaterals and may include systolic or continuous murmur over the affected organ, tachycardia, increased stroke volume, cardiomegaly and increased pulmonary vascular markings.
Congenital systemic arteriovenous fistula
Sporadic CJD
Sporadic Creutzfeldt-Jakob disease (sCJD) is a subacute fatal neurodegenerative disease belonging to the group of prion diseases, characterized by a clinical triad of dementia, myoclonus, and EEG anomalies, along with neuropathological evidence of neuronal loss, spongiform changes, and astrocytosis. There are three types of CJD: sporadicCJD (sCJD), inherited CJD (see this term), and iatrogenic and variant CJD (vCJD).
Sporadic Creutzfeldt-Jakob disease
Congenital respiratory-biliary fistula (RBF) is a rare developmental defect characterized by an anomalous connection of trachea or bronchus with left hepatic duct presenting with respiratory distress, recurrent respiratory infections and biliary expectoration or vomitus.
Congenital bronchobiliary fistula
Coronaro-cardiac fistula
Coronary arterial malformations
Coronary arterial fistulas are a connection between one or more of the coronary arteries and a cardiac chamber or great vessel.
Coronary arterial fistulas
use http://www.orpha.net/ORDO/Orphanet_1199 with label: Esophageal atresia
OBSOLETE: Tracheo-esophageal fistula-hypospadias syndrome
Floating-Harbor syndrome is a genetic developmental disorder characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay.
Floating-Harbor syndrome
EN-7
Rac family small GTPase 2
SH3PXD4
neutrophil NADPH oxidase factor 4
p40phox
neutrophil cytosolic factor 4
BCMO
beta-carotene oxygenase 1
Leukonychia totalis-trichilemmal cysts-ciliary dystrophy syndrome
FLOTCH syndrome is a rare, genetic, cutaneous disorder characterized by leuchonychia and multiple, recurrent pilar cysts, associated or not with ciliar dystrophy and/or koilonychia. Renal calculi have also been reported.
FLOTCH syndrome
Flynn-Aird syndrome is a neuroectodermal disorder involving the nervous, cutaneous, skeletal, and glandular systems. It has been described in 10 members from five generations of one family. Clinical manifestations include eye abnormalities (cataracts, retinitis pigmentosa, and myopia), sensorineural deafness, ataxia, peripheral neuritis, epilepsy, dementia, skin atrophy and striking dental caries. Patients also present with muscle wasting, joint stiffness and bone cysts. Flynn-Aird syndrome is transmitted as an autosomal dominant trait. It shows some similarities to the syndromes of Werner, Refsum and Cockayne.
Flynn-Aird syndrome
Bilirubin uridinediphosphate glucuronosyltransferase deficiency
Bilirubin-UGT deficiency
Hereditary unconjugated hyperbilirubinemia
UGT deficiency
Crigler-Najjar syndrome (CNS) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to a hepatic deficit of bilirubin glucuronosyltransferase (GT) activity. Two types have been described, CNS types 1 and 2 (see these terms). CNS1 is characterized by a complete deficit of the enzyme and is unaffected by phenobarbital induction therapy, whereas the enzymatic deficit is partial and responds to phenobarbital in CNS2.
Crigler-Najjar syndrome
Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome
Cole-Carpenter syndrome is an extremely rare form of bone dysplasia characterized by the features of osteogenesis imperfecta such as bone fragility associated with multiple fractures, bone deformities (metaphyseal irregularities and bowing of the long bones) and blue sclera, in association with growth failure, craniosynostosis, hydrocephalus, ocular proptosis, and distinctive facial features (e.g. frontal bossing, midface hypoplasia, and micrognathia).
Cole-Carpenter syndrome
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_2052 with label: Fraser syndrome
Cryptophthalmos-syndactyly syndrome
Fraser syndrome is a rare clinical entity including as main characteristics cryptophthalmos and syndactyly.
Fraser syndrome
Craniocarpotarsal dysplasia
Craniocarpotarsal dystrophy
Distal arthrogryposis type 2A
Whistling face syndrome
Freeman-Sheldon syndrome (FSS) is a very rare, multiple congenital contractures syndrome characterized by a microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. FSS is the most severe form of distal arthrogryposis.
Freeman-Sheldon syndrome
Aseptic necrosis of the tarsal bone
Osteochondrosis of the tarsal bone
Osteochondritis of tarsal/metatarsal bone is a very rare form of osteochondritis dissecans characterized by generally self-limiting bone lesions that may cause pain and swelling often localized at the tarsal navicular bone.
Osteochondritis of tarsal/metatarsal bone
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_264200 with label: 14q22q23 microdeletion syndrome
Growth deficiency-brachydactyly-dysmorphism syndrome
natriuretic peptide A
GluK2
MRT6
glutamate ionotropic receptor kainate type subunit 2
NHP2 ribonucleoprotein
Fructokinase deficiency
Ketohexokinase deficiency
Essential fructosuria is a rare autosomal recessive disorder of fructose metabolism (see this term) caused by a deficiency of fructokinaseenzyme activity. It is characterized by elevated fructosemia and presence of fructosuria following ingestion of fructose and related sugars (sucrose, sorbitol). Essential fructosuria is clinically asymptomatic and harmless. Dietary restriction is not indicated.
Essential fructosuria
Frydman-Cohen-Karmon syndrome
Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome is characterised by the association of blepharophimosis and ptosis, V-esotropia, and weakness of extraocular and frontal muscles with syndactyly of the toes, short stature, prognathism, and hypertrophy and fusion of the eyebrows. It has been described in six members of three related families. Transmission is autosomal recessive.
Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome
Diaphragmatic hernia-abnormal face-distal limb anomalies syndrome
Fryns syndrome (FS) is a multiple congenital anomaly syndrome characterized by dysmorphic facial features, congenital diaphragmatic hernia, pulmonary hypoplasia, and distal limb hypoplasia, in addition to variable expression of additional malformations.
Fryns syndrome
bA59I9.3
decaprenyl diphosphate synthase subunit 2
CDA-II
CDAII
HEMPAS
Sec23 homolog B, coat complex II component
trnP
mitochondrially encoded tRNA proline
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_85199 with label: Craniosynostosis-anal anomalies-porokeratosis syndrome
Copenhagen syndrome
Progressive non-infectious anterior vertebral fusion (PAVF) is an early childhood spinal disorder characterized by the gradual onset of thoracic and/or lumbar spine ankylosis often in conjunction with kyphosis with distinctive radiological features.
Progressive non-infectious anterior vertebral fusion
SGFLD syndrome
Splenogonadal fusion-limb defects-micrognatia syndrome is a rare dysostosis syndrome characterized by abnormal fusion of the spleen with the gonad (or more rarely with remnants of the mesonephros), limb abnormalities (consisting of amelia or severe reduction defects leading to upper and/or lower rudimentary limbs) and orofacial abnormalities such as cleft palate, bifid uvula, microglossia and mandibular hypoplasia. It could also be associated with other malformations such as cryptorchidism, anal stenosis/atresia, hypoplastic lungs and cardiac malformations.
Splenogonadal fusion-limb defects-micrognathia syndrome
Faulk-Epstein-Jones syndrome
Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome is characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.
Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome
HPRT deficiency
HPRT1 deficiency
Hypoxanthine-guanine phosphoribosyltransferase 1 deficiency
Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a hereditary disorder of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzyme deficiency.
Hypoxanthine-guanine phosphoribosyltransferase deficiency
Krabbe disease, classic form
Krabbe disease, early-onset
Infantile Krabbe disease
Krabbe disease, late-onset
Late-infantile/juvenile Krabbe disease
Adult Krabbe disease
Mucinous cystadenoma of ovary in childhood
Serous cystadenoma of ovary in childhood
Serous or mucinous cystadenoma of childhood is a benign epithelial ovarian tumor characterized by a usually unilateral, cystic, unilocular or multilocular lesion with a thin wall or septa and no intracystic solid portion on imaging. It often presents with abdominal pain or an asymptomatic abdominal mass and can be associated with ovarian torsion or malignant transformation.
Serous or mucinous cystadenoma of childhood
Borderline ovarian epithelial tumor
Ovarian tumor of low malignant potential
Borderline epithelial tumor of the ovary is an uncommon epithelial ovarian neoplasm, distinguished from ovarian carcinomas by the absence of destructive stromal invasion, generally characterized by indolent behavior and excellent prognosis. Most patients are asymptomatic at the time of diagnosis, and the symptoms, if present, are often nonspecific and vague, such as pelvic pain, abdominal mass or, rarely, gastrointestinal problems including early satiety or bloating. Six histological subtypes are currently recognized, based on the epithelial cell type.
Borderline epithelial tumor of ovary
Gonadoblastoma is a rare benign neoplasm of mixed sex cord and germ cells, arising mostly in the dysgenic gonads of young women with a chromosome Y anomaly, presenting with abdominal enlargement, variable feminization or virilization or, in some cases, being asymptomatic. It is often associated with dysgerminoma.
Gonadoblastoma
Vaginal germ cell cancer
Vaginal germ cell malignant tumor
Malignant germ cell tumor of the vagina is an extremely rare, malignant, vulvovaginal neoplasm, deriving from primordial germ cells in the vagina, typically characterized by painless bloody vaginal discharge and a polypoid mass which protrudes from the vagina. Serum alpha-fetoprotein is usually elevated and rapid progression, local agression and early metastasis to liver and lungs is reported.
Malignant germ cell tumor of the vagina
Vulvovaginal rhabdomyosarcoma is a rare vulvovaginal tumour, a highly malignant soft tissue sarcoma composed of cells with round to oval or spindle-shaped nuclei and eosinophilic cytoplasm that may show differentiation towards striated muscle cells. It usually affects children and presents with a vulvar or vaginal mass that may be polypoid or grape-like (embryonal subtype) and associated with bleeding and ulceration.
Vulvovaginal rhabdomyosarcoma
Galloway syndrome
Microcephaly-hiatus hernia-nephrotic syndrome
Nephrosis-neuronal dysmigration syndrome
Galloway syndrome is characterized by the association of nephrotic syndrome and central nervous system anomalies.
Galloway-Mowat syndrome
Non-dysgerminomatous germ cell cancer of ovary
Malignant non-dysgerminomatous germ cell tumor of ovary is a rare malignant germ cell tumor of ovary (see this term) arising from germ cells in the ovary, frequently unilateral at diagnosis, usually presenting during adolescence with pelvic mass, fever, vaginal bleeding and acute abdomen, with certain subtypes being occasionally associated with isosexual precocity, virilization, hyperthyroidism or carcinoid syndrome (see this term). Histologically they comprise the following: embryonal carcinoma, Yolk sac tumor, polyembryoma and mixed germ cell tumor.
Malignant non-dysgerminomatous germ cell tumor of ovary
Symptomatic forms of Duchenne and Becker muscular dystrophies (DMD and BMD: see these terms) in females carriers are characterized by variable degrees of muscle weakness due to progressive skeletal myopathy, sometimes associated with dilated cardiomyopathy or left ventricle dilation.
Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
LGMD2L
Autosomal recessive limb-girdle muscular dystrophy type 2L (LGMD2L) is a form of limb-girdle muscular dystrophy most often characterized by an adult onset (but ranging from 11 to 51 years) of mainly proximal lower limb weakness, with difficulties standing on tiptoes being one of the initial signs. Proximal upper limb and distal lower limb weakness is also common, as well as atrophy of the quadriceps (most commonly), biceps brachii, and lower leg muscles. Calf hypertrophy has also been reported in some cases. LGMD2L progresses slowly, with most patients remaining ambulatory until late adulthood.
Autosomal recessive limb-girdle muscular dystrophy type 2L
Autosomal recessive limb-girdle muscular dystrophy type 2M (LGMD2M) is a form of limb-girdle muscular dystrophy characterized by an infantile onset of hypotonia, axial and proximal lower limb weakness (with severe weakness noted after febrile illnesses), cardiomyopathy and normal or reduced intelligence. Hypertrophy of calves, thighs, and triceps have also been reported in some cases.
Autosomal recessive limb-girdle muscular dystrophy type 2M
Autosomal recessive limb-girdle muscular dystrophy type 2N (LGMD2N) is a form of limb-girdle muscular dystrophy characterized by proximal weakness (manifesting as slowness in running) presenting in infancy, along with calf hypertrophy, mild lordosis, scapular winging and normal intelligence (or mild intellectual disability).
Autosomal recessive limb-girdle muscular dystrophy type 2N
Autosomal recessive limb-girdle muscular dystrophy type 2O (LGMD2O) is a form of limb-girdle muscular dystrophy characterized by an onset in childhood or adolescence of rapidly progressive proximal limb muscle weakness (particularly affecting the neck, hip girdle, and shoulder abductors), hypertrophy in the calves and quadriceps, ankle contractures, and myopia.
Autosomal recessive limb-girdle muscular dystrophy type 2O
Anti-HMG-CoA myopathy
Anti-SRP myopathy
Autoimmune necrotizing myositis
IMNM
Immune myopathy with myocyte necrosis
NAM
Necrotizing autoimmune myopathy (NAM) is a rare form of idiopathic inflammatory myopathy characterized clinically by acute or subacute proximal muscle weakness, and histopathologically by myocyte necrosis and regeneration without significant inflammation.
Immune-mediated necrotizing myopathy
Adult-onset overlap myositis
Non-specific myositis
Overlap myositis (OM) is a form of idiopathic inflammatory myopathy (IIM) characterized by myositis with at least one clinical and/or autoantibody overlap feature.
Overlap myositis
Acquired rippling muscle disease
Immune-mediated rippling muscle disease
mutation-negative rippling muscle disease in association with acetylcholine receptor antibody-mediated myasthenia gravis. Patients typically present exercise-induced, electrically-silent muscle rippling with myalgia, in combination with generalized myasthenia gravis symptoms (ptosis, diplopia, neck weakness, dysphagia and dyspnea).
Rippling muscle disease with myasthenia gravis
Autosomal recessive distal spinal muscular atrophy type 4
Distal spinal muscular atrophy type 4
dSMA4
Autosomal recessive lower motor neuron disease with childhood onset is a rare, genetic, neuromuscular disease characterized by proximal muscle weakness with an early involvement of foot and hand muscles following normal motor development in early childhood, a rapidly progressive disease course leading to generalized areflexic tetraplegia with contractures, severe scoliosis, hyperlordosis, and progressive respiratory insufficiency leading to assisted ventilation. Cranial nerve functions are normal and tongue wasting and fasciculations are absent. Milder phenotype with a moderate generalized weakness and slower disease progress was reported.
Autosomal recessive lower motor neuron disease with childhood onset
APBD
Adult polyglucosan body disease (APBD) is a glycogen storage disease of adults characterized by progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia.
Adult polyglucosan body disease
Neurolymphomatosis is a rare syndrome of peripheral and cranial nerve dysfunction in patients with hematologic malignancies, mostly non-Hodgkin's lymphoma or acute leukemia, characterized by painful or painless involvement of peripheral or cranial nerves or nerve roots. The clinical presentation is diverse depending on the site involved and includes plexopathy, mononeuritis multiplex, peripheral neuropathy, radiculopathy and cranial nerve palsies.
Neurolymphomatosis
Subacute inflammatory demyelinating polyradiculoneuropathy
Subacute inflammatory demyelinating polyneuropathy (SIDP) is a subacute progressive symmetric sensorial and/or motor disorder characterized by muscular weakness with impaired sensation, absent or diminished tendon reflexes and elevated cerebrospinal fluid (CSF) proteins. SIDP is an intermediate form between Guillain-Barré syndrome (GBS) and chronic inflammatory demyelinating polyneuropathy (CIDP; see these terms).
Subacute inflammatory demyelinating polyneuropathy
Idiopathic asymptomatic hyperCKemia
Isolated asymptomatic hyperCKemia
Isolated asymptomatic elevation of creatine phosphokinase is a rare neurologic disease characterized by persistent elevation of the serum creatine phosphokinase (CK) without any clinical, neurophysical or histopathological evidence of neuromuscular disease using the available laboratory procedures. It is usually an incidental finding, diagnosed after exclusion of other possible causes of elevated CK levels.
Isolated asymptomatic elevation of creatine phosphokinase
GABA transaminase deficiency
Gamma-aminobutyric acid transaminase (GABA-T) deficiency is an extremely rare disorder of GABA metabolism characterized by a severe neonatal-infantile epileptic encephalopathy (manifesting with symptoms such as seizures, hypotonia, hyperreflexia and developmental delay) and growth acceleration.
Gamma-aminobutyric acid transaminase deficiency
use http://www.orpha.net/ORDO/Orphanet_207085 with label: Qualitative or quantitative defects of dystrophin
OBSOLETE: Other muscle weakness and/or chronic muscle pain
OBSOLETE: Chronic muscular fatigue and/or chronic muscle pain
Infectious disease with peripheral neuropathy
use http://www.orpha.net/ORDO/Orphanet_182086 with label: Acquired peripheral neuropathy
OBSOLETE: Toxic or/and iatrogenic neuropathy
Genetic skeletal muscle disease
Acquired skeletal muscle disease
Progressive muscular dystrophy
Myotonic dystrophy
Autosomal dominant distal myopathy
Autosomal recessive distal myopathy
Non-dystrophic myopathy
use http://www.orpha.net/ORDO/Orphanet_207090 with label: Qualitative or quantitative defects of collagen 6
OBSOLETE: Non-dystrophic myopathy with collagen 6 anomaly
Inclusion myopathy
Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome
GAPO syndrome is a multiple congenital anomalies (MCA) syndrome involving connective tissue characterized by Growth retardation, Alopecia, Pseudoanodontia and Ocular manifestations
GAPO syndrome
Bulbospinal muscular atrophy
Bulbospinal muscular atrophy of childhood
Bulbospinal muscular atrophy of adult
Generalized bulbospinal muscular atrophy
use http://www.orpha.net/ORDO/Orphanet_53739 with label: Distal hereditary motor neuropathy
OBSOLETE: Distal spinal muscular atrophy
ZNF698
ZFP57 zinc finger protein
Gastrocutaneous syndrome is a rare, syndromic, hyperpigmentation of the skin characterized by multiple lentigines and café-au-lait spots associated with hiatal hernia and peptic ulcer, hypertelorism and myopia. There have been no further descriptions in the literature since 1982.
Gastrocutaneous syndrome
Lipid storage myopathy
Muscular lipidosis
Glycogen storage myopathy
Muscular glycogenosis
Mitochondrial myopathy
Myotonic syndrome
Congenital myotonia
Periodic paralysis
use http://www.orpha.net/ORDO/Orphanet_98482 with label: Idiopathic inflammatory myopathy
Muscular tumor
use http://www.orpha.net/ORDO/Orphanet_206638 with label: Acquired skeletal muscle disease
Infectious, fungal or parasitic myopathy
Viral myositis
Bacterial myositis
Parasitic myositis
Crouzon craniofacial dysostosis
Crouzon disease is characterized by craniosynostosis and facial hypoplasia.
Crouzon disease
EGE
Eosinophilic enteritis
Eosinophilic gastroenterocolitis
Eosinophilic gastroenteritis (EGE) is a rare benign gastrointestinal disease characterized by the presence of abnormal and nonspecific gastro-intestinal (GI) manifestations, associated with an eosinophilic infiltration of the GI tract, which can affect several segments and involve several layers within the GI wall.
Eosinophilic gastroenteritis
Fungal myositis
Spinal muscular atrophy associated with central nervous system anomaly
Rare hereditary disease with peripheral neuropathy
Rare hereditary metabolic disease with peripheral neuropathy
Rare hereditary systemic disease with peripheral neuropathy
Rare hereditary neurologic disease with peripheral neuropathy
Cerebellar ataxia with peripheral neuropathy
use http://www.orpha.net/ORDO/Orphanet_1496 with label: Corpus callosum agenesis-neuronopathy syndrome
OBSOLETE: Rare disease with corpus callosum agenesis associated with peripheral neuropathy
Acute and subacute inflammatory demyelinating polyradiculoneuropathy
Acute and subacute inflammatory demyelinating polyneuropathy
Malignant lymphoma with peripheral neuropathy
Qualitative or quantitative protein defects in neuromuscular diseases
Sarcoglycanopathy
Qualitative or quantitative defects of sarcoglycan
Qualitative or quantitative defects of alpha-sarcoglycan
Qualitative or quantitative defects of beta-sarcoglycan
Qualitative or quantitative defects of gamma-sarcoglycan
Qualitative or quantitative defects of delta-sarcoglycan
Dysferlinopathy
Qualitative or quantitative defects of dysferlin
Caveolinopathy
Qualitative or quantitative defects of caveolin-3
Dystrophinopathy
Qualitative or quantitative defects of dystrophin
Qualitative or quantitative defects of collagen 6
Qualitative or quantitative defects of merosin
Integrinopathy
Qualitative or quantitative defects of integrin alpha-7
Qualitative or quantitative defects of perlecan
Qualitative or quantitative defects of calpain
Qualitative or quantitative defects of TRIM32
Qualitative or quantitative defects of myotubularin
Secondary alpha-dystroglycanopathy
Secondary dystroglycanopathy
Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan
Qualitative or quantitative defects of FKRP
Qualitative or quantitative defects of fukutin
Cardiovascular Gaucher disease
Gaucher disease type 3C
Gaucher-like disease
Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement.
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
Gélineau disease
Narcolepsy-cataplexy
Narcolepsy with cataplexy is a sleep disorder characterized by excessive day-time sleepiness associated with uncontrollable sleep urges and cataplexy (loss of muscle tone often triggered by pleasant emotions).
Narcolepsy type 1
Spinocerebellar ataxia-amyotrophy-deafness syndrome
Gemignani syndrome is a rare neurodegenerative disease characterized by slowly progressive ataxia, amyotrophy of the hands and distal arms, spastic paraplegia, progressive sensorineural hearing loss, hypogonadism and short stature. Additional features include generalized cerebellar atrophy and peripheral nervous system anomalies. Small cervical spinal cord, intellectual/language disability and localized vitiligo have also been reported. There have been no further descriptions in the literature since 1989.
Gemignani syndrome
Gardner-Silengo-Wachtel syndrome
Genitopalatocardiac syndrome is a rare, multiple congenital anomalies/dysmorphic syndrome characterized by male, 46,XY gonadal dysgenesis, cleft palate, micrognathia, conotruncal heart defects and unspecific skeletal, brain and kidney anomalies.
Genitopalatocardiac syndrome
X-linked intellectual disability-epilepsy syndrome
German syndrome is an autosomal recessive arthrogryposis syndrome, described in 5 cases. Three of the four known families with affected children were Ashkenazi Jews. German syndrome is characterized by arthrogryposis, hypotonia-hypokinesia sequence, and lymphedema. Patients present distinct craniofacial appearance (tall forehead and ''carp''-shaped mouth, cleft palate), contractures, severe hypotonia manifesting as motor delay, and swallowing difficulties. The disease has a severe morbidity and mortality rate and survivors present a small stature, hypotonia, frequent upper respiratory infections, and psychomotor delay. There have been no further descriptions in the literature since 1987.
German syndrome
Geroderma osteodysplastica (GO) is characterized by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen), progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit.
Geroderma osteodysplastica
Cramer-Niederdellmann syndrome
Cerebral gigantism-jaw cysts syndrome is characterised by cerebral gigantism associated with a jaw cyst basal cell naevoid syndrome.
Cerebral gigantism-jaw cysts syndrome
MacDermot-Winter syndrome
Prominent glabella  microcephaly  hypogenitalism is a very rare syndrome described in two sibs and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions.
Prominent glabella-microcephaly-hypogenitalism syndrome
ACSVL4
FATP4
solute carrier family 27 member 4
ACHM5
COD4
PDEA2
phosphodiesterase 6C
matrix metallopeptidase 9
vaccinia related kinase 1
CORS1
PPI5PIV
pharbin
inositol polyphosphate-5-phosphatase E
GEMSS syndrome
Glaucoma-ectopia-microspherophakia-stiff joints-short stature syndrome is characterized by progressive joint stiffness, glaucoma, short stature and lens dislocation. It has been described in three members of a family (the grandfather, his daughter and grandson). It is likely to be transmitted as an autosomal dominant trait. The acronym GEMSS (Glaucoma, Ectopia, Microspherophakia, Stiff joints, Short stature) was proposed as a name for the syndrome. This syndrome shows similarities to Moore-Federman syndrome (see this term).
Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome
Bilateral parasagittal parieto-occipital polymicrogyria
Bilateral frontal polymicrogyria
Bilateral generalized polymicrogyria
Glaucoma-sleep apnea syndrome is characterized by sleep apnoea associated with glaucoma. It has been described in five members of a family (the mother and four of her children).
Glaucoma-sleep apnea syndrome
ADCA2
Autosomal dominant cerebellar ataxia type 2
Autosomal dominant cerebellar ataxia type II
Congenital nonprogressive spinocerebellar ataxia
SCA29
Spinocerebellar ataxia type 29 (SCA29) is a rare subtype of autosomal dominant cerebellar ataxia type I (ADCA type I; see this term) characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability.
Spinocerebellar ataxia type 29
Herpetiform pemphigus is a rare superficial pemphigus disease characterized by severe intractable pruritus with erythematous or urticarial plaques and vesicles organized in a herpetiform pattern. Mucosae are generally spared. Eosinophilia in peripheral blood and low titers of circulating autoantibodies are observed in many cases. Histologically, minimal or no apparent acantholysis is associated.
Herpetiform pemphigus
Genetic hypoparathyroidism
Genetic hyperparathyroidism
Optic pathway glioma (OPG) is a benign tumor that develop along the optic nerve (chiasm, tracts, and radiations) characterized by impairment or loss of vision and may be accompanied by diencephalic symptoms such as reduced growth and alteration in sleeping patterns. OPG are often linked to neurofibromatosis type 1 (NF1, see this term).
Optic pathway glioma
use http://www.orpha.net/ORDO/Orphanet_168194 with label: Rare cardiac tumor
OBSOLETE: Papillary fibroelastoma of the heart
CAPS
Cryopyrinopathy
Cryopyrin associated periodic syndrome (CAPS) defines a group of autoinflammatory diseases, characterized by recurrent episodes of systemic inflammatory attacks in the absence of infection or autoimmune disease. CAPS comprises 3 disorders on a continuum of severity: severe CINCA syndrome, intermediate Muckle-Wells syndrome (MWS) and milder familial cold urticaria (FCAS) (see these terms).
Cryopyrin-associated periodic syndrome
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_69735 with label: Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
Glomerulonephritis-sparse hair-telangiectasis syndrome
Bickel-Fanconi glycogenosis
Fanconi-Bickel disease
GSD due to GLUT2 deficiency
GSD type 11
GSD type XI
Glycogen storage disease type 11
Glycogen storage disease type XI
Glycogenosis due to GLUT2 deficiency
Fanconi-Bickel glycogenosis (FBG) is a rare glycogen storage disease characterized by hepatorenal glycogen accumulation, severe renal tubular dysfunction and impaired glucose and galactose metabolism.
Glycogen storage disease due to GLUT2 deficiency
GSD due to hepatic glycogen synthase deficiency
GSD type 0a
Glycogen storage disease due to liver glycogen synthase deficiency
Glycogen storage disease type 0a
Glycogenosis type 0a
Glycogen synthetase deficiency, or glycogen storage disease (GSD) type 0, is a genetically inherited anomaly of glycogen metabolism and a form of GSD characterized by fasting hypoglycemia. This is not a glycogenosis, strictly speaking, as the enzyme deficiency decreases glycogen reserves.
Glycogen storage disease due to hepatic glycogen synthase deficiency
CADP
Chronic acquired demyelinating polyneuropathy
Chronic polyradiculoneuropathy
Polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies
Acquired sensory neuronopathy
Acquired sensory ganglionopathy
Non-paraneoplastic sensory neuronopathy
Non-paraneoplastic sensory ganglionopathy
use http://www.orpha.net/ORDO/Orphanet_208989 with label: Non-paraneoplastic sensory ganglionopathy
OBSOLETE: Other ganglionopathy related to autoimmune diseases
Paraneoplastic sensory neuronopathy
Paraneoplastic sensory ganglionopathy
Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated with skeletal and developmental anomalies and, in some cases, with severe systemic involvement. Several different forms of inherited CL have been described, differentiated on the basis of the mode of inheritance and differences in the extent of internal organ involvement, associated anomalies and disease severity.
Cutis laxa
Goniodysgenesis-intellectual disability-short stature syndrome
GMS syndrome describes an extremely rare syndrome involving goniodysgenesis, intellectual disability and short stature in addition to microcephaly, short nose, small hands and ears, and that has been seen in one family to date. There have been no further descriptions in the literature since 1992.
GMS syndrome
Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy
Systemic inflammatory disease associated with an acquired peripheral neuropathy
Peripheral neuropathy associated with monoclonal gammopathy
Acquired amyloid peripheral neuropathy
Hematological disease associated with an acquired peripheral neuropathy
Solid tumor associated with an acquired peripheral neuropathy
Qualitative or quantitative defects of protein POMGNT1
Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase
Qualitative or quantitative defects of protein glycosyltransferase-like
Qualitative or quantitative defects of protein O-mannosyltransferase 1
Qualitative or quantitative defects of protein O-mannosyltransferase 2
Qualitative or quantitative defects of myofibrillar proteins
Qualitative or quantitative defects of desmin
Qualitative or quantitative defects of alphaB-cristallin
Qualitative or quantitative defects of filamin C
Qualitative or quantitative defects of protein ZASP
Qualitative or quantitative defects of titin
Qualitative or quantitative defects of telethonin
Qualitative or quantitative defects of alpha-actin
Daneman-Davy-Mancer syndrome
Thyroid-renal-digital anomalies
Multinodular goiter - cystic kidney - polydactyly syndrome is a very rare syndrome characterized by the association of multinodular goiter, cystic renal disease and digital anomalies.
Multinodular goiter-cystic kidney-polydactyly syndrome
Qualitative or quantitative defects of nebulin
Qualitative or quantitative defects of beta-myosin heavy chain (MYH7)
Qualitative or quantitative defects of emerin
Qualitative or quantitative defects of selenoprotein N1
Qualitative or quantitative defects of plectin
Qualitative or quantitative defects of protein SERCA1
Goltz syndrome
Goltz-Gorlin syndrome
Goltz syndrome or focal dermal hypoplasia is characterized by a polymorphic cutaneous disorder and highly variable anomalies affecting the eyes, teeth, skeleton and the central nervous, urinary, gastrointestinal and cardiovascular systems.
Focal dermal hypoplasia
Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase -
Qualitative or quantitative defects of myotilin
KIAA1011
NUA
NUANCE
Nesp2
Nesprin-2
SYNE-2
nuclear envelope spectrin repeat-2
nucleus and actin connecting element
spectrin repeat containing nuclear envelope protein 2
SDH5
succinate dehydrogenase complex assembly factor 2
Dicer
HERNA
KIAA0928
dicer 1, double-stranded RNA-specific endoribonuclease
dicer 1, ribonuclease III
transient receptor potential cation channel subfamily M member 4
Ib772
KIAA0312
UREB1
HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase
BBF2H7
cAMP responsive element binding protein 3 like 2
BBF-2 homolog (drosophila)
OASIS
cAMP responsive element binding protein 3 like 1
Autosomal dominant adult-onset proximal SMA
Autosomal dominant late-onset spinal muscular atrophy, Finkel type
Finkel disease
SMAFK
Autosomal dominant adult-onset proximal spinal muscular atrophy
Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy without contractures
SMALED1
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Severe congenital encephalopathy due to MECP2 mutation
Severe neonatal-onset encephalopathy with microcephaly is a rare monogenic disease with epilepsy characterized by neonatal-onset encephalopathy, microcephaly, severe developmental delay or absent development, breathing abnormalities (including central hypoventilation and/or respiratory insufficiency), intractable seizures, abnormal muscle tone and involuntary movements. Early death is usual.
Severe neonatal-onset encephalopathy with microcephaly
PRPH1
peripherin
EPH receptor A2
CD116
alpha-GM-CSF receptor
alphaGMR
colony stimulating factor 2 receptor alpha subunit
BMP13
KFS
KFS1
growth differentiation factor 6
NPHP9
NIMA related kinase 8
Craniofacial dysostosis-genital, dental, cardiac anomalies syndrome
Cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome
Dental and eye anomalies-patent ductus arteriosus-normal intelligence syndrome
GCM syndrome
Gorlin-Chaudhry-Moss (GCM) syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysostosis, facial dysmorphism, conductive hearing loss, generalized hypertrichosis, and extremity, ocular and dental anomalies.
Gorlin-Chaudhry-Moss syndrome
Grant syndrome is a rare osteogenesis imperfecta-like disorder, described in two patients to date, characterized clinically by persistent wormian bones, blue sclera, mandibular hypoplasia, shallow glenoid fossa, and campomelia. There have been no further descriptions in the literature since 1986.
Grant syndrome
Chondrodysplasia, Grebe type
Acromesomelic dysplasia, Grebe type is an autosomal recessively inherited form of acromesomelic dysplasia (see this term) characterized by severe dwarfism at birth, abnormalities confined to limbs, severe shortening and deformity of long bones, fusion or absence of carpal and tarsal bones, ball shaped fingers and, occasionally, polydactyly and absent joints. As seen in acromesomelic dysplasia, Hunter-Thomson type and acromesomelic dysplasia, Maroteaux Type (see these terms), facial features and intelligence are normal.
Acromesomelic dysplasia, Grebe type
Autosomal dominant rhegmatogenous retinal detachment is a rare, hereditary, non-syndromic form of vitreoretinopathy characterized by retinal tears due to abnormal vitreous, and commonly present refractive errors. No other signs or symptoms of Stickler syndrome is present.
Autosomal dominant rhegmatogenous retinal detachment
FJHN type 1
Familial juvenile gouty nephropathy
Familial nephropathy with gout
UMOD-associated FJHN
UMOD-associated familial juvenile hyperuricemic nephropathy
Familial juvenile hyperuricemic nephropathy type 1 (FJHN1) is a rare kidney disorder characterized by hyperuricemia, progressive nephropathy, and gout occurring at an early age.
Familial juvenile hyperuricemic nephropathy type 1
OBSOLETE: Grix-Blankenship-Peterson syndrome
Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency is a rare, genetic, sterol metabolism disorder characterized by increased LDL cholesterol serum levels (which are resistant to treatment with 3-hydroxy-3-methylglutaryl-coenzyme A reductase inhibitors), hypertrigliceridemia, and decreased rate of bile acid excretion, resulting from cholesterol 7alpha-hydroxylase deficiency. Premature gallstone disease and/or premature coronary and peripheral vascular disease are frequently associated.
Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome
Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC; see these terms).
Brain-lung-thyroid syndrome
CAS
Developmental verbal dyspraxia
Speech and language disorder with orofacial dyspraxia
Speech-language disorder type 1
Childhood apraxia of speech
Extraskeletal myxoid chondrosarcoma
Non-Wilsonian hepatic copper toxicosis of infancy and childhood
Idiopathic copper-associated cirrhosis is a rare copper-overload liver disease characterized by a rapidly progressive liver cirrhosis from the first few years of life leading to hepatic insufficiency and harboring a specific pathological aspect: pericellular fibrosis, inflammatory infiltration, hepatocyte necrosis, absence of steatosis, poor regeneration and histochemical copper staining.
Idiopathic copper-associated cirrhosis
Cone dystrophy with supernormal rod ERG
Cone dystrophy with supernormal rod electroretinogram
Cone dystrophy with supernormal scotopic electroretinogram
Cone dystrophy with supernormal rod response (CDSRR) is an inherited retinopathy, with an onset in the first or second decade of life, characterized by poor visual acuity (due to central scotoma), photophobia, severe dyschromatopsia, and occasionally, nystagmus. Night blindness usually develops later in the course of the disease, but it can also be apparent from childhood. A hallmark of CDSRR is the decreased and delayed dark-adapted response to dim flashes in electroretinographic recordings, which contrasts with the supernormal b-wave response at the highest levels of stimulation.
Cone dystrophy with supernormal rod response
Idiopathic retinal vasculitis-aneurysms-neuroretinitis syndrome
IRVAN syndrome
SPG18
gene (8p11.2) encoding the protein, Erlin-2.
Autosomal recessive spastic paraplegia type 18
Idiopathic uveal effusion syndrome is a rare acquired eye disease characterized by uni- or bilateral abnormal fluid accumulation within the suprachoroidal space, resulting in internal choroidal elevation, in the absence of any known cause, such as decreased intraocular tension, intraocular tumor, intraocular inflammation or nanophtalmos. Patients typically present a protracted, relapsing-remitting course of visual acuity loss and fundus examination shows annular celio-choroidal detachment and shifting, serous retinal detachment.
Idiopathic uveal effusion syndrome
Endophthalmitis phacoanaphylactica
Lens-induced endophthalmitis
Lens-induced iridocyclitis
Lens-induced uveitis
Phacoallergic endophthalmitis
Phacoantigenic endophthalmitis
Phako-anaphylactic endophthalmitis
Phacoanaphylactic uveitis
Solitary rectal ulcer syndrome (SRUS) is a rare rectal disease characterized by rectal bleeding, abdominal pain, passage of mucus, sensation of incomplete evacuation, straining at defecation and rectal prolapsed, secondary to ischemic changes in the rectum.
Solitary rectal ulcer syndrome
Episodic ataxia type 6 (EA6) is an exceedingly rare form of Hereditary episodic ataxia (see this term) with varying degrees of ataxia and associated findings including slurred speech, headache, confusion and hemiplegia.
Episodic ataxia type 6
Episodic ataxia type 7 (EA7) is an exceedingly rare form of Hereditary episodic ataxia (see this term) characterized by ataxia with weakness, vertigo, and dysarthria without interictal findings.
Episodic ataxia type 7
Benign nocturnal alternating hemiplegia of childhood is a rare neurologic disease characterized by recurrent attacks of nocturnal screaming or crying followed or accompanied by unilateral or sometimes bilateral hemiplegia. Disorder is not associated with neurological or developmental impairments but may be associated with mild behavioral abnormalities.
Benign nocturnal alternating hemiplegia of childhood
Alternating hemiplegia
Iron-refractory iron deficiency anemia
IRIDA (Iron-refractory iron deficiency anemia) syndrome is a rare autosomal recessive iron metabolism disorder characterized by iron deficiency anemia (hypochromic, microcytic) that is often unresponsive to oral iron intake and partially responsive to parenteral iron treatment.
IRIDA syndrome
Non-papillary urothelial carcinoma
Non-papillary transitional cell carcinoma of the bladder
, a recently discovered coccidia that was initially described in Peru and then in most intertropical zones. Infection occurs through ingestion of contaminated food or water and leads to abdominal pain, anorexia and diarrhoea, which may resolve spontaneously in immunocompetent individuals but may persist in a chronic form in immunocompromised subjects, leading to a decline in their general state of health.
Cyclosporosis
Developmental delay-hypotonia-extremities hypertrophy syndrome
Grubben-de Cock-Borghgraef syndrome is a rare intellectual disability syndrome characterized by pre- and postnatal growth deficiency, generalized muscular hypotonia, developmental delay (particularly of speech and language), hypotrophy of distal extremities, small and puffy hands and feet, eczematous skin and dental anomalies (i.e. small, widely-spaced teeth). Partial agenesis of the corpus callosum and a selective immunoglobulin IgG2 subclass deficiency have also been reported in some patients.
Grubben-de Cock-Borghgraef syndrome
Autosomal recessive intermediate osteopetrosis
Intermediate osteopetrosis is a rare, genetic primary bone dysplasia with increased bone density characterized by susceptibility to fractures after minor trauma, anemia, and characteristic skeletal radiographic changes, such as sandwich vertebra, bone-within-bone appearance, Erlenmeyer-shaped femoral metaphysis, and mild osteosclerosis of the skull base. Dental anomalies and visual impairment secondary to optic nerve compression have been rarely described.
Intermediate osteopetrosis
Autoinflammatory disease due to interleukin-1 receptor antagonist deficiency
DIRA
Interleukin-1 receptor antagonist deficiency
OMPP
Sterile multifocal osteomyelitis with periostitis and pustulosis is a rare, severe, genetic autoinflammatory syndrome characterized by usually neonatal onset of generalized neutrophilic cutaneous pustulosis and severe, recurrent, multifocal, aseptic osteomyelitis with marked periostitis, typically affecting distal ribs, long bones and vertebral bodies. High levels of acute-phase reactants (with no fever associated) and onychosis are frequently observed additional features.
Sterile multifocal osteomyelitis with periostitis and pustulosis
ACDMPV
Alveolar capillary dysplasia with misalignment of pulmonary veins
Alveolar capillary dysplasia with misalignment of pulmonary vessels
Congenital alveolar capillary dysplasia (ACD) is a rare and fatal developmental lung disease characterized by respiratory distress in neonates due to refractory hypoxemia and severe pulmonary arterial hypertension.
Congenital alveolar capillary dysplasia
Encephalopathy due to urocanase deficiency
Encephalopathy due to urocanase deficiency is an extremely rare histidine metabolism disorder characterized by urocanic aciduria and other variable manifestations including intellectual deficit and intermittent ataxia in the 4 cases reported to date.
Urocanic aciduria
Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome is a rare, syndromic nail anomaly disorder characterized by the association of leukonychia totalis with acanthosis-nigricans-like lesions (occurring in the neck, axillae and abdomen regions) and hair dysplasia, manifesting with dry, brittle hair which presents an irregular pattern of complete or incomplete twists and an irregular surface with londitudinal furrows on electronic microscopy.
Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome
Pulmonary fibrosis - hepatic hyperplasia - bone marrow hypoplasia, also named trimorphic syndrome (i.e. three (inherited) morbidities, pulmonary, hepatic and cytopenia), is a rare disease reported in 4 cases to date, manifesting with idiopathic pulmonary fibrosis, hepatic nodular regenerative hyperplasia leading to portal hypertension and thrombocytopenia due to bone marrow hypoplasia. The condition was associated with 100% mortality.
Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome
Inherited congenital spastic quadriplegia
Spastic quadriplegic cerebral palsy
Inherited congenital spastic tetraplegia is a rare, genetic, neurological disease characterized by non-progressive, variable spastic quadriparesis in multiple members of a family, in the absence of additional factors complicating pregnancy or birth (e.g. perinatal asphyxia, congenital infection). Additional clinical features include congenital hypotonia, intellectual disability, and developmental delay. Dysphagia, dysarthria, exotropia, nystagmus, seizures and brain atrophy with ventriculomegaly may be also present.
Inherited congenital spastic tetraplegia
Lethal polymalformative syndrome, Boissel type is a rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by failure to thrive, severe developmental delay, severe postanatal microcephaly, frequent congenital cardiac defects and characteristic facial dysmorphysm (including coarse face with anteverted nostrils, thin vermillion, prominent alveolar ridge and retro- or micrognatia). Additional common features include neurologic abnormalities (hyper-/hypotonia, sensorineural deafness, hydrocephalus, cerebral atrophy, seizures), as well as brachydactyly, cutis marmorata and genital anomalies.
Lethal polymalformative syndrome, Boissel type
Adult HCC
Adult hepatocellular carcinoma is the most common primary liver cancer of adulthood. Derived from well-differentiated hepatocytes, it often develops from chronic liver cirrhosis which is most often due to hepatitis B and C virus or alcohol abuse. Symptoms are hepatic mass, abdominal pain and, in advanced stages, jaundice, cachexia and liver failure.
Adult hepatocellular carcinoma
Congenital lethal myopathy, Compton-North type is a rare, genetic, lethal, non-dystrophic congenital myopathy disorder characterized, antenatally, by fetal akinesia, intrauterine growth restriction and polyhydramnios, and, following birth, by severe neonatal hypotonia, severe generalized skeletal, bulbar and respiratory muscle weakness, multiple flexion contractures, and normal creatine kinase serum levels. Ultrastructurally, loss of integrin alpha7, beta2-syntrophin and alpha-dystrobrevin from the muscle sarcolemma and disruption of sarcomeres with disorganization of the Z band are observed.
Congenital lethal myopathy, Compton-North type
GTPCH deficiency
Hyperphenylalaninemia due to GTP cyclohydrolase deficiency
GTP-cyclohydrolase I deficiency, an autosomal recessive genetic disorder, is one of the causes of malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency. Not only does tetrahydrobiopterin deficiency cause hyperphenylalaninemia, it is also responsible for defective neurotransmission of monoamines because of malfunctioning tyrosine and tryptophan hydroxylases, both tetrahydrobiopterin-dependent hydroxylases.
GTP cyclohydrolase I deficiency
Disembarkment syndrome
MdD
MdDS
Sickness of disembarkment
Mal de débarquement (MdD) is a rare otorhinolaryngological disease characterized by a persistent sensation of motion such as rocking, swaying, tumbling and/or bobbing following a period of exposure to passive movement, usually an ocean cruise or other types of water, train, automobile or air travel and less commonly other movements (like sleeping on a waterbed). Onset may be spontaneous in some patients. Manifestations begin shortly after the stimulus, persist for 6 months to years and may be associated with anxiety, fatigue and impaired cognition. Symptoms are often accentuated when in an enclosed space or when attempting to be motionless (sitting, lying down or standing in a stationary position) and are relieved when in passive motion such as in a moving car, airplane or train.
Mal de débarquement
GBS
Guillain-Barré-Strohl syndrome
Guillain-Barré syndrome (GBS) is the term used to describe a spectrum of rare post-infectious neuropathies that usually occur in otherwise healthy patients. GBS is clinically heterogeneous and encompasses acute inflammatory demyelinating polyradiculoneuropathy (AIDP), acute motor axonal neuropathy (AMAN) and acute motor-sensory axonal neuropathy (AMSAN), Miller-Fisher syndrome (MFS; see these terms) and some other regional variants.
Guillain-Barré syndrome
Guízar Vázquez-Sánchez-Manzano syndrome
Dysmorphism-pectus carinatum-joint laxity syndrome is characterised by joint laxity, pectus carinatum and facial dysmorphism (mild frontal bossing, a beaked nose with a low nasal bridge, malar hypoplasia, chubby cheeks, a striking philtrum and arched upper lips). It has been described in two siblings. The mode of transmission is unknown.
Dysmorphism-pectus carinatum-joint laxity syndrome
Macrocephaly-intellectual disability-autism syndrome
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_36899 with label: Myoclonus-dystonia syndrome
DYT16
Early-onset dystonia parkinsonism
Dystonia 16 (DYT16) is a very rare and newly discovered movement disorder which is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism.
Dystonia 16
Congenital trismus
Congenital temporomandibular joint ankylosis is a rare maxillofacial disorder characterized by significant reduction in mouth opening (i.e. from a few millimeters to a few centimeters) in the absence of acquired factors (e.g. trauma, infection) contributing to the ankylosis. It is associated with variable degrees of facial dysmorphism (i.e. lateral deviation of the mandible and chin, lower facial asymmetry, retrognathia, micrognathia, dental malocclusion) and patients typically present with feeding and breathing difficulties. Developmental delay, hypotonia, seizures, and additional dysmorphic features (e.g. pectus excavatum, low-set ears, hypoplastic alae nasi) have also been reported.
Congenital temporomandibular joint ankylosis
Temporomandibular joint anomaly
Spindle cell hemangioendothelioma
Spindle cell hemangioma (SCH), also known as spindle cell hemangioendothelioma, is a rare benign vascular tumor either solitary or multiple, characterized by cavernous blood vessels separated by spindle cells reminiscent of those in Kaposis sarcoma and located in the dermis and subcutis.
Spindle cell hemangioma
Infantile hemangioma of rare localization
use http://www.orpha.net/ORDO/Orphanet_458775 with label: Congenital hemangioma
Hall-Riggs syndrome is a very rare syndrome consisting of microcephaly with facial dysmorphism, spondylometaepiphyseal dysplasia and severe intellectual deficit.
Hall-Riggs syndrome
François dyscephalic syndrome
Oculomandibulofacial syndrome
Hallermann-Streiff syndrome is a rare genetic syndrome characterized mainly by head and facial abnormalities such as bird-like facies (with beak-shaped nose and retrognathia), hypoplastic mandible, brachycephaly with frontal bossing, dental abnormalities (e.g. absence of teeth, natal teeth, supernumerary teeth, severe agenesis of permanent teeth, enamel hypoplasia) hypotrichosis, various ophthalmic disorders (e.g. congenital cataracts, bilateral microphthalmia, ptosis, nystagmus) and atrophy of skin (especially around the center of face and nose) as well as telangiectasia and proportionate short stature. Intellectual disability is reported in some cases.
Hallermann-Streiff syndrome
Turban tumor syndrome
Familial cylindromatosis
Kleiner-Holmes syndrome
Hallux varus-preaxial polysyndactyly syndrome is a rare, genetic, congenital limb malformation disorder characterized by bilateral medial displacement of the hallux and preaxial polysyndactyly of the first toes. Radiographs show broad, shortened, misshapen first metatarsals and may associate incomplete or complete duplication of proximal phalanges and duplication or triplication of distal phalanges. There have been no further descriptions in the literature since 1980.
Hallux varus-preaxial polysyndactyly syndrome
IDDM1
major histocompatibility complex, class II, DQ beta 1
SCA30
Spinocerebellar ataxia type 30 (SCA30) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III; see this term) characterized by a slowly progressive and relatively pure ataxia.
Spinocerebellar ataxia type 30
Autosomal dominant proximal spinal muscular atrophy
Specific learning difficulty
Specific learning disorder
Specific learning disability
Dysphasia
Specific language disorder
Hereditary episodic ataxia (EA) represents a group of neurological disorders characterized by recurrent episodes of ataxia and vertigo which may be progressive. Weakness, dystonia and ataxia are sometimes present in the interictal period. Seven types of EA have been described to date (EA type 1 to EA type 7, see these terms), but most of the reported cases belong to EA1 and EA2.
Hereditary episodic ataxia
Episodic ataxia type 5 (EA5) is an extremely rare form of Hereditary episodic ataxia (see this term) characterized by recurrent episodes of vertigo and ataxia lasting several hours.
Episodic ataxia type 5
Graham-Boyle-Troxell syndrome
Cystic hamartoma of lung and kidney is a rare developmental malformation reported in 3 patients characterized by the presence of benign hamartomatous cysts in kidney and lung, clinically presenting as abdominal mass. Others associated features include hyperplastic nephromegaly, medullary dysplasia and mesoblastic nephroma. There have been no further descriptions in the literature since 1987.
Cystic hamartoma of lung and kidney
use http://www.orpha.net/ORDO/Orphanet_101944 with label: Rare pulmonary disease
OBSOLETE: Follicular hamartoma-alopecia-cystic fibrosis syndrome
Rare vascular tumor
Genetic vascular anomaly
Simple vascular malformation
Rare capillary malformation
Rare venous malformation
Rare lymphatic system malformation
Rare arteriovenous malformation
Hemangiolymphangioma
Complex vascular malformation with associated anomalies
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_672 with label: Pallister-Hall syndrome
Congenital hypothalamic hamartoma syndrome
BFHD
Beukes familial hip dysplasia
Cilliers-Beighton syndrome
Premature degenerative osteoarthropathy of the hip
Beukes familial hip dysplasia (BFHD) is a primary bone dysplasia, characterized by premature degenerative arthropathy of the hip. The disease presents with hip joint discomfort/pain and gait disturbances that usually develop in childhood and that progress to severe functional disability and limited mobility by early adulthood. Involvement of the vertebral bodies and other joints is minimal, height is not significantly reduced, and general health is unimpaired. Radiographically, the femoral heads are flattened and irregular and degenerative osteoarthritis develops in the hip joints, as evidenced by the presence of periarticular cysts, sclerosis, and joint space narrowing.
Hip dysplasia, Beukes type
Cranio-facio-digito-genital syndrome
Harrod syndrome is characterized by the association of intellectual deficit, facial dysmorphism (a highly arched palate, pointed chin, and small mouth, hypotelorism, a long nose and large protruding ears), arachnodactyly, hypogenitalism (undescended testes and hypospadias) and failure to thrive.
Harrod syndrome
Aminoaciduria, Hartnup type
Hartnup disorder
Hartnup disease is a rare metabolic disorder belonging to the neutral aminoacidurias and characterized by abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine).
Holoprosencephaly-ectrodactyly-cleft lip/palate syndrome
Hartsfield syndrome is a rare, genetic, developmental defect during embryogenesis malformation syndrome characterized by the association of variable degrees of holoprosencephaly and uni- or bilateral ectrodactyly of the hands and/or feet. Additional variable features, including facial dysmorphism (e.g. hypertelorism, short bulbous nose, long philtrum, dysplastic/low-set ears, cleft lip and palate, tented upper lip), other brain malformations (such as corpus callosum agenesis, absent septum pellucidum, absent olfactory bulbs/tracts, vermian hypoplasia), pituitary gland-related endocrine disorders (e.g. central diabetes insipidus, hypogonadotropic hypogonadism) and hypothalamic dysfunction, may be associated.
Hartsfield syndrome
4-HPPD deficiency
4-alpha-hydroxyphenylpyruvate hydroxylase deficiency
4-hydroxyphenylpyruvic acid dioxygenase deficiency
Hawkinsinuria is an inborn error of tyrosine metabolism characterized by failure to thrive, persistent metabolic acidosis, fine and sparse hair, and excretion of the unusual cyclic amino acid metabolite, hawkinsin ((2-l-cystein-S-yl, 4-dihydroxycyclohex-5-en-1-yl)acetic acid), in the urine.
Hawkinsinuria
Hydrocephalus-endocardial fibroelastosis-cataract syndrome
HEC syndrome is characterised by communicating hydrocephalus, endocardial fibroelastosis (EFE), and congenital cataracts. It has been described in two children, both of whom died a few months after birth (the first as a result of a respiratory infection and the second due to cardiac complications). The aetiology of the syndrome is unknown but a viral or genetic origin has been proposed.
HEC syndrome
Cystathionase deficiency
Cystathione gamma-lyase deficiency syndrome
Gamma-cystathionase deficiency
Cystathioninuria is an autosomal recessive disorder caused by cystathionine gamma-lyase deficiency. It is usually pyridoxine-dependent, but in very rare cases it may be non-dependent. It is generally considered to be a benign condition without pathogenic relevance. However, association of cystathioninuria with intellectual impairment has been reported in several cases.
Cystathioninuria
Kaposiform hemangioendothelioma is a very rare, aggressive, vascular tumor manifesting in the neonatal period or in infancy as cutaneous vascular tumors to large infiltrative lesions.
Kaposiform hemangioendothelioma
Diffuse neonatal hemangiomatosis is a rare vascular tumor from unknown origin characterized by multiple, progressive, rapidly growing cutaneous hemangiomas (e.g. in the scalp, face, trunk and extremities) associated with widespread visceral hemangiomas in the liver, lungs, gastrointestinal tract, brain, and meninges.
Diffuse neonatal hemangiomatosis
Cavernous hemangiomas of face-supraumbilical midline raphe syndrome
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_83628 with label: LUMBAR syndrome
Sacral hemangiomas-multiple congenital abnormalities syndrome
ADCA
PENKB
beta-neoendorphin
dynorphin
leu-enkephalin
leumorphin
neoendorphin-dynorphin-enkephalin prepropeptide
preproenkephalin B
rimorphin
prodynorphin
Solitary fibrous tumor (SFT) represents a diverse group of ubiquitous rare spindle cell neoplasms that may be benign or malignant and that most frequently arises from the pleura and peritoneum and rarely from other sites such as head and neck, liver and skeletal muscle. SFT may be clinically asymptomatic or may present with enlarging mass, compressive effects depending on the site involved and rarely with paraneoplastic manifestations (osteoarthropathy or hypoglycemia).
Solitary fibrous tumor
SPAX5
AFG3 like matrix AAA peptidase subunit 2
spinocerebellar ataxia 20
spinocerebellar ataxia 25
spinocerebellar ataxia 30
Hemi 3 syndrome
Hemicorporal hypertrophy
Isolated hemihypertrophy
Isolated hemihyperplasia is a rare overgrowth syndrome characterized by an asymmetric regional body overgrowth, involving at least one limb, and associated with an increased risk of developing embryonal tumors, principally nephroblastoma (see this term) and hepoblastoma.
Isolated hemihyperplasia
GP135
glycoprotein gP135
contactin 1
cholesterol 7 alpha-monooxygenase
cytochrome P450 family 7 subfamily A member 1
CAG repeat protein 44
CAGH44
forkhead/winged-helix transcription factor
speech and language disorder 1
trinucleotide repeat containing 10
forkhead box P2
EA6
EAAT1
GLAST
glutamate transporter variant EAAT1ex9skip
solute carrier family 1 member 3
KIAA0356
pleckstrin homology and RUN domain containing M1
OBSOLETE: Hemihypertrophy-intestinal web-corneal opacity syndrome
ICIL-1RA
IL-1RN
IL1F3
IL1RA
IRAP
interleukin-1 receptor antagonist protein
intracellular interleukin-1 receptor antagonist
interleukin 1 receptor antagonist
FREAC1
forkhead box F1
HMFN0320
urocanase 1
urocanate hydratase 1
AP-4 adapter complex mu subunit
MU-4
MU-ARP2
SPG50
adaptor-related protein complex AP-4 mu4 subunit
mu subunit of AP-4
mu-adaptin-related protein-2
adaptor related protein complex 4 subunit mu 1
ALKBH9
AlkB homolog 9
KIAA1752
MGC5149
alpha-ketoglutarate-dependent dioxygenase
FTO, alpha-ketoglutarate dependent dioxygenase
Protein defect of cystin transport
Cystinosis is a metabolic disease characterized by an accumulation of cystine inside the lysosomes, causing damage in different organs and tissues, particularly in the kidneys and eyes. Three clinical forms have been described: nephropathic infantile, nephropathic juvenile and ocular (see these terms).
Cystinosis
Longitudinal meromelia
Hemimelia is a limb malformation characterized by the absence or gross shortening of the lower portion of one or more of the limbs. The condition is designated according to which bone of the distal arm or leg is absent or defective and includes fibular, radial, tibial, or ulnar hemimelia (see these terms). Hemimelia ranges in severity.
Hemimelia
HSD14
PACT
RAX
protein activator of the interferon-induced protein kinase
protein activator of interferon induced protein kinase EIF2AK2
AHC
Alternating hemiplegia of childhood (AHC) is a rare neurodevelopmental disorder characterized by recurrent episodes of hemiplegia and paroxysmal disturbances associated with persistent developmental delay and cognitive impairment.
Alternating hemiplegia of childhood
Hemoglobin C disease (HbC) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin C, with no or mild clinical manifestations (hemolytic anemia).
Hemoglobin C disease
Hemoglobin E disease (HbE) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin E, with a generally benign, asymptomatic presentation.
Hemoglobin E disease
Atypical HUS
D-HUS
Hemolytic-uremic syndrome without diarrhea
aHUS
Atypical hemolytic-uremic syndrome (aHUS) is a thrombotic microangiopathy characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction.
Atypical hemolytic-uremic syndrome
Mastocytosis-short stature-hearing loss syndrome
Hennekam-Beemer syndrome is characterized by the association of skin mastocytosis (appearing as diffuse pigmentation), short stature, microcephaly, conductive hearing loss, and dysmorphic features. It has been described in only two (female) cases: one with normal mental development born to consanguineous parents and the other with severe psychomotor retardation born to unrelated parents. The mode of inheritance is most likely autosomal recessive.
Hennekam-Beemer syndrome
Ovarian malignant tumor
Ovarian cancer
Ovarian adenocarcinoma
Adenocarcinoma of ovary
MMMT of the ovary
Ovarian carcinosarcoma
Ovarian malignant mixed Müllerian tumor
Ovarian malignant mixed epithelial mesenchymal tumor
Malignant mixed Müllerian tumor of the ovary is a rare and very aggressive neoplasm presenting most commonly in postmenopausal women and is composed of adenocarcinomatous and sarcomatous elements and, depending on the types of these elements, can be classified as homologous or heterologous. It often has a poor prognosis.
Malignant mixed Müllerian tumor of the ovary
Familial ovarian malignant tumor
Familial ovarian cancer
, confer an elevated ovarian cancer risk in a minority of patients.
Hereditary site-specific ovarian cancer syndrome
Rare adenocarcinoma of the breast
Metaplastic carcinoma of the breast is a rare, aggressive subtype of invasive breast carcinoma characterized by rapid growth, relatively large tumor size and a tendency to metastasize to distant organs, particularly the lungs, with relatively less frequent involvement of the axillary lymph nodes. Histologically, the tumor shows high-grade cellularity and heterologous differentiation, including chondroid, osseous, pleomorphic/sarcomatoid, spindled, and squamous elements. Patients usually present with a fast-growing, large, well-circumscribed, mobile lump in the breast, which can become painful and involve the chest wall and the skin, leading to ulceration.
Metaplastic carcinoma of the breast
Salivary gland type carcinoma of the breast
Salivary gland type cancer of the breast describes a group of uncommon neoplasms, usually seen in the salivary glands but occurring in the breast, with a variable clinicopathologic spectrum and divided into those with myoepithelial differentiation and those without. This group includes mammary adenoid cystic carcinoma, adenoid cystic carcinoma (see this term), mucoepidermoid carcinoma, acinic cell carcinoma, polymorphous low-grade adenocarcinoma and oncocytic carcinoma.
Salivary gland type cancer of the breast
Rare cancer of uterus
Rare malignant tumor of uterus
Rare uterine malignant tumor
Rare uterine cancer
Rare malignant tumor of corpus uteri
Rare cancer of corpus uteri
Rare variants of adenocarcinoma of the corpus uteri
Mixed epithelial and mesenchymal cancer of corpus uteri
Malignant mixed epithelial and mesenchymal tumor of corpus uteri
Lymphedema-lymphangiectasia-intellectual disability syndrome
Hennekam syndrome is characterised by the association of lymphoedema, intestinal lymphangiectasia, intellectual deficit and facial dysmorphism.
Hennekam syndrome
Adenosarcoma of the corpus uteri is a rare subtype of mixed epithelial-mesenchymal tumor, often presenting as a large, exophytic polypoid lesion, which may extend through the cervix, composed of benign or atypical epithelium and low-grade malignant stroma. It usually presents with dysfunctional bleeding or vaginal discharge and less often abdominal pain. Association with long-term unopposed estrogen therapy, tamoxifen therapy and a history of pelvic radiation has been reported.
Adenosarcoma of the corpus uteri
Carcinofibroma of the corpus uteri is an extremely rare subtype of mixed müllerian tumor characterized by the presence of a uterine neoplasm which simuntaneously presents a malignant epithelial component (carcinomatous glands) and a benign mesenchymal component. Clinical presentation typically includes dysfunctional vaginal bleeding, abnormal vaginal discharge and/or lower abdominal pain.
Carcinofibroma of the corpus uteri
Malignant mixed Müllerian tumor of the corpus uteri
Mixed Müllerian cancer of corpus uteri
Uterine carcinosarcoma
Carcinosarcoma of the corpus uteri is a rare, malignant, mixed epithelial and mesenchymal tumor of the uterine body composed of high-grade carcinomatous and sarcomatous elements. It may present with vaginal bleeding, abnormal vaginal discharge, abdominal pain and/or pelvic mass, with a polypoid tumor sometimes protruding through the cervical canal. Association with Tamoxifen therapy, long-term unopposed estrogen use and previous pelvic radiotherapy has been reported.
Carcinosarcoma of the corpus uteri
Rhabdomyosarcoma of the corpus uteri is an extremely rare, highly malignant soft tissue sarcoma located in the uterine body and arising from primitive mesenchymal cells displaying variable degrees of skeletal muscle differentiation. It most often presents with abnormal vaginal discharge or dysfunctional uterine bleeding, abdominal pain and lower abdominal mass. Association with DICER1 syndrome has been reported.
Rhabdomyosarcoma of the corpus uteri
Sarcoma of the corpus uteri
Leiomyosarcoma of the corpus uteri is a rare, malignant, mesenchymal tumor of smooth muscle origin characterized, histologically, by spindle and/or pleomorphic cells, often forming disorganized fascicles, with tumor cell necrosis and, macroscopically, by a large, soft, usually intramural mass with irregular borders and necrotic and hemorrhagic areas, located in the uterus. Presenting signs and symptoms typically include dysfunctional vaginal bleeding, vaginal discharge, palpable pelvic mass and/or pelvic pain/pressure. Changes in bowel habits, frequent or painful urination and hematuria may also be associated.
Leiomyosarcoma of the corpus uteri
Malignant peripheral neuroectodermal tumor of the corpus uteri
Peripheral neuroectodermal cancer of the corpus uteri
Primitive neuroectodermal tumor of the corpus uteri is a rare cancer of corpus uteri derived from neural crest cells, characterized by small, round neoplastic cells with variable degree of neural, glial and ependymal differentiation. Macroscopically, the tumor is often a large, poorly circumscribed polypoid mass with necrotic areas and hemorrhage. It usually presents with lower abdominal or pelvic pain, irregular vaginal bleeding or discharge, pelvic mass and uterine enlargement.
Primitive neuroectodermal tumor of the corpus uteri
Chronic autoimmune hepatitis
Chronic autoimmune hepatitis (AIH) is a rare progressive inflammatory disorder of unknown cause primarily affecting women and associated with circulating autoantibodies, elevated transaminase levels, and increased levels of immunoglobulin.
Autoimmune hepatitis
Stromal sarcoma of the corpus uteri
Endometrial stromal sarcoma
Endometrial squamous cell carcinoma
Squamous cell carcinoma of the corpus uteri is a rare cancer of corpus uteri composed of squamous cells of varying degree of differentiation that usually affects postmenopausal women and presents with abnormal vaginal discharge, dysfunctional bleeding, abdominal pain and distension. It is often associated with cervical stenosis and pyometra.
Squamous cell carcinoma of the corpus uteri
Endometrial undifferentiated carcinoma
Undifferentiated carcinoma of the corpus uteri is a rare cancer of corpus uteri presenting as a large, polypoid, intraluminal mass with necrosis, composed of small to intermediate-size, relatively uniform, dyshesive cells displaying no differentiation. It usually presents with dysfunctional bleeding or vaginal discharge and, less often, abdominal pain. Association with Lynch syndrome was reported.
Undifferentiated carcinoma of the corpus uteri
Endometrial capillary carcinoma
Papillary carcinoma of the corpus uteri
High-grade neuroendocrine carcinoma of the uterine corpus
Poorly differentiated neuroendocrine carcinoma of the corpus uteri
Poorly differentiated neuroendocrine carcinoma of the endometrium
High-grade neuroendocrine carcinoma of the corpus uteri is an extremely rare, aggressive, primary uterine neoplasm, originating from neuroendocrine cells scattered within the endometrium, characterized, macroscopically, by a bulky, frequently polypoid, mass with abundant necrosis located in the uterus and, histologically, by rosette-like and cord-like structures consisting of small, rounded cells with oval nuclei and scarce cytoplasm. Patients often present with dysfunctional uterine bleeding, pelvic or abdominal mass and, especially in later stages of the disease, abdominal pain. Symptomatic metastatic spread or symptoms related to a paraneoplastic syndrome, such as retinopathy, or Cushing syndrome due to ectopic ACTH production, may be associated.
High-grade neuroendocrine carcinoma of the corpus uteri
Low-grade neuroendocrine tumor of the uterine corpus
Well-differentiated neuroendocrine neoplasm of the endometrium
Well-differentiated neuroendocrine tumor of the corpus uteri
Well-differentiated neuroendocrine tumor of the endometrium
Low-grade neuroendocrine tumor of the corpus uteri is an extremely rare uterine cancer typically characterized by a well demarcated, solid, frequently pedunculated tumor originating from neuroendocrine cells scattered within the endometrium, often associated with ectopic hormone production. Patients usually present with vaginal bleeding or discharge and a pelvic mass with a polypoid tumor sometimes protruding through the cervical canal. Symptoms related to ectopic hormone production (flushing, sweating, diarrhea, bronchospasm) may also develop.
Low-grade neuroendocrine tumor of the corpus uteri
Endometrial adenoid cystic carcinoma
Adenoid cystic carcinoma of the corpus uteri
Endometrial transitional cell carcinoma
Transitional cell carcinoma of the corpus uteri
Germ cell cancer of the corpus uteri
Malignant germ cell tumor of the corpus uteri is an extremely rare uterine neoplasm characterized by a typically polypoid mass deriving from primordial germ cells localized in the endometrium. Presentation is non-specific and often includes abnormal vaginal bleeding and/or discharge, a mass protruding from the vagina, abdominal and/or pelvic pain or, less commonly, difficulty passing stool and perianal pain. The malignant teratoma and yolk sac tumor histological subtypes are the most common.
Malignant germ cell tumor of the corpus uteri
Rare cervical cancer
Rare cervical malignant tumor
Rare malignant tumor of cervix uteri
Rare cancer of cervix uteri
Cervical squamous cell carcinoma
Squamous cell carcinoma of the cervix uteri
Cervical adenocarcinoma
Adenocarcinoma of the cervix uteri
High-grade neuroendocrine carcinoma of the uterine cervix
Poorly differentiated neuroendocrine carcinoma of the cervix uteri
Poorly differentiated neuroendocrine cervical carcinoma
High-grade neuroendocrine carcinoma of the cervix uteri is a rare, aggressive, primary cervical neoplasm, originating from neuroendocrine cells present in the lining epithelium of the cervix, characterized, macroscopically, by usually large lesions, sometimes with a barrel-shaped appearance. Patients often present with abnormal vaginal bleeding or discharge, pelvic/abdominal pain, post-coital spotting and/or dysuria, while symptoms related to carcinoid syndrome are not frequent.
High-grade neuroendocrine carcinoma of the cervix uteri
Cervical malignant mixed epithelial and mesenchymal tumor
Mixed epithelial and mesenchymal cancer of cervix uteri
Malignant mixed epithelial and mesenchymal tumor of cervix uteri
Cervical carcinosarcoma
Cervical malignant Müllerian mixed tumor
Malignant Müllerian mixed tumor of the cervix uteri
Carcinosarcoma of the cervix uteri is a rare, malignant, mixed epithelial and mesenchymal tumor, located in the cervix uteri, composed of an admixture of carcinomatous and sarcomatous elements. It usually presents with abnormal vaginal bleeding and a round, well-defined, grey to yellowish-white, pedunculated polypoid mass protruding through the cervical canal. Association with HPV infection (especially serotype 16) has been frequently reported.
Carcinosarcoma of the cervix uteri
Cervical adenosarcoma
Adenosarcoma of the cervix uteri is a rare subtype of malignant mixed epithelial and mesenchymal tumor composed of benign or mildly atypical glandular elements and a surrounding low-grade malignant stroma, often containing heterologous elements, such as areas of sex-cord-like or smooth muscle differentiation. It usually presents with vaginal bleeding or discharge, lower abdominal pain and/or a cervical mass or polyp. The tumor may arise from pre-existing endometriosis and patients may have a history of recurrent cervical polyps.
Adenosarcoma of the cervix uteri
Cervical malignant mesenchymal tumor
Cervical sarcoma
Malignant mesenchymal tumor of cervix uteri
Sarcoma of cervix uteri
46,XX ovotesticular DSD
46,XX ovotesticular disorder of sex development (46,XX ovotesticular DSD) is characterized by histologically confirmed testicular and ovarian tissue in an individual with a 46,XX karyotype.
46,XX ovotesticular disorder of sex development
Cervical rhabdomyosarcoma
Rhabdomyosarcoma of the cervix uteri is a rare, highly malignant soft tissue sarcoma located in the uterine cervix and arising from primitive mesenchymal cells displaying skeletal muscle differentiation. It most often presents with abnormal vaginal discharge or dysfunctional uterine bleeding, abdominal pain and/or a cervical mass protruding into the vagina. Association with DICER1 syndrome has been reported.
Rhabdomyosarcoma of the cervix uteri
Cervical leiomyosarcoma
Leiomyosarcoma of the cervix uteri is a rare, malignant mesenchymal tumor of smooth muscle origin, macroscopically appearing as a large, poorly circumscribed mass, often protruding from the cervical canal or expanding it circumferentially. The most common presenting symptoms are vaginal discharge or bleeding, pain in the lower abdomen and a bulky cervical mass. There is a reported tendency to metastatsize hematogenously, especially to the lungs, peritoneum, bones and the liver.
Leiomyosarcoma of the cervix uteri
Cervical malignant peripheral neuroectodermal tumor
Cervical peripheral neuroectodermal cancer
Malignant peripheral neuroectodermal tumor of the cervix uteri
Peripheral neuroectodermal cancer of cervix uteri
Primitive neuroectodermal tumor of the cervix uteri is a rare cancer of cervix uteri derived from neural crest cells, histologically composed of small, round neoplatic cells with variable degree of neural, glial and ependymal differentiation. Macroscopically, the tumor is often a large, soft, poorly circumscribed mass with infiltrative borders and necrotic areas. It presents with dysfuntional vaginal bleeding or discharge, lower abdominal pain and uterine enlargement.
Primitive neuroectodermal tumor of the cervix uteri
Cervical papillary carcinoma
Papillary carcinoma of the cervix uteri
Cervical adenoid cystic carcinoma
Adenoid cystic carcinoma of the cervix uteri is a rare, highly aggressive uterine cancer, macroscopically appearing as an irregular, slow-growing, non-friable, polypoid mass on the uterine cervix and histologically showing a pseudoglandular or cribriform growth pattern. It presents with vaginal bleeding and discharge and abdominal or pelvic pain. The tumor is highly infiltrative, often associated with vascular, lymphatic and perineural invasion, with subsequent haematogenous spread and early recurrence.
Adenoid cystic carcinoma of the cervix uteri
Cervical adenoid basal carcinoma
Adenoid basal carcinoma of the cervix uteri is a rare, slow-growing uterine cancer characterized, histologically, by small, well differentiated nests of basaloid cells resembling basal cell carcinoma of the skin, commonly associated with squamous cell carcinoma or squamous intraepithelial lesions. Patients are usually asymptomatic or present with dysfunctional vaginal bleeding, often with no observable lesion on the cervix. Infection with high-risk HPV-types (16 and 33) has been reported in some cases.
Adenoid basal carcinoma of the cervix uteri
Glassy cell carcinoma of the cervix uteri is a rare cancer of the uterine cervix, composed of nests of large neoplastic cells with "ground glass" cytoplasm, surrounded by a stroma with prominent eosinophilic infiltrates. It is a poorly differentiated, aggressive variant of adenosquamous carcinoma that usually affects young women and presents with dysfunctional vaginal bleeding and lower abdominal pain. Distant metastases to the lungs, liver spleen or bones are often present at the time of diagnosis. It is often associated with high-risk HPV-infection (types 18, 16 and 32).
Glassy cell carcinoma of the cervix uteri
Cervical germ cell cancer
Cervical malignant germ cell tumor
Germ cell cancer of the cervix uteri
Malignant germ cell tumor of the cervix uteri is an extremely rare uterine neoplasm characterized by a usually polypoid, friable tumor deriving from primordial germ cells located in the uterine cervix. Presentation is non-specific and often includes abnormal vaginal bleeding and/or discharge, a cervical mass protruding from the vagina, abdominal and/or pelvic pain or, less commonly, difficulty passing stool and perianal pain. Various histological subtypes (incl. dysgerminoma, yolk sac tumor, choriocarcinoma and malignant teratoma) are reported.
Malignant germ cell tumor of the cervix uteri
Intellectual disability-epilepsy-bulbous nose syndrome
Hernández-Aguirre Negrete syndrome is characterized by major seizures, dysmorphic features (round face, bulbous nose, wide mouth, prominent philtrum), pes planus, psychomotor retardation and obesity. It has been described in five children (three boys and two girls, one of whom died in infancy) from two unrelated Mexican families. This condition is likely to be transmitted as an autosomal recessive trait.
Hernández-Aguirre Negrete syndrome
Cystinuria-lysinuria syndrome
Cystinuria is a renal tubular amino acid transport disorder characterized by recurrent formation of kidneys cystine stones.
Cystinuria
CDH
Congenital diaphragmatic hernia (CDH) is a posterolateral defect of the diaphragm that allows passage of abdominal viscera into the thorax, leading to respiratory insufficiency and persistent pulmonary hypertension with high mortality.
Congenital diaphragmatic hernia
Froster-Huch syndrome
Diaphragmatic defect-limb deficiency-skull defect syndrome is characterized by the association of classical diaphragmatic hernia (Bochdalek type) with severe lung hypoplasia, and variable associated malformations.
Diaphragmatic defect-limb deficiency-skull defect syndrome
DBS/FOAR syndrome
Diaphragmatic hernia-exomphalos-hypertelorism syndrome
Diaphragmatic hernia-hypertelorism-myopia-deafness syndrome
FOAR syndrome
Facio-oculo-acoustico-renal syndrome
Holmes-Schepens syndrome
Syndrome of ocular and facial anomalies, telecanthus and deafness
Donnai-Barrow syndrome (DBS) is a rare, often severe, multiple congenital malformation syndrome with typical facial dysmorphism, ocular findings, hearing loss, agenesis of the corpus callosum, and variable intellectual disability. Congenital diaphragmatic hernia (CDH) and/or omphalocele are common.
Donnai-Barrow syndrome
Craniosynostosis, Herrmann-Opitz type is a rare bone development disorder characterized by intellectual disability, short stature, turribrachycephaly, facial dysmorphism (i.e. severe hypertelorism, hypoplasia of supraorbital ridges, abnormal ears, and micrognathia), bony defects of the occiput, and digital anomalies (incl. syndactyly, oligodactyly, and/or brachydactyly). Urethral atresia has also been reported. There have been no further descriptions in the literature since 1987.
Craniosynostosis, Herrmann-Opitz type
X-linked lissencephaly type 1
Type 1 lissencephaly due to doublecortin (DCX) gene mutations is a semi-dominant X-linked disease characterised by intellectual deficiency and seizures that are more severe in male patients.
Lissencephaly type 1 due to doublecortin gene mutation
Nodular neuronal heterotopia
Congenital essential nyctalopia
#8805;-10.00 D)), nystagmus, strabismus, normal color vision and fundus abnormalities.
Congenital stationary night blindness
Hirschsprung disease-type D brachydactyly syndrome is characterized by Hirschsprung disease and absence or hypoplasia of the nails and distal phalanges of the thumbs and great toes (type D brachydactyly). It has been described in four males from one family (two brothers and two maternal uncles). Transmission appears to be X-linked recessive but autosomal dominant inheritance with incomplete penetrance in females can not be ruled out.
Hirschsprung disease-type D brachydactyly syndrome
Hirschsprung disease-ganglioneuroblastoma syndrome
Hirschsprung disease-intellectual disability syndrome
Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype, intellectual disability, epilepsy, Hirschsprung disease (HSCR; see this term) and variable congenital malformations.
Mowat-Wilson syndrome
Al Gazali-Donnai-Muller syndrome
Hirschsprung disease-nail hypoplasia-dysmorphism syndrome is a fatal malformative disorder that is characterized by Hirschsprung disease, hypoplastic nails, distal limb hypoplasia and minor craniofacial dysmorphic features (flat facies, upward slanting palpebral fissures, narrow philtrum, narrow, high arched palate, micrognathia, low set ears with abnormal helices). Hydronephrosis has also been reported. There have been no further descriptions in the literature since 1988.
Hirschsprung disease-nail hypoplasia-dysmorphism syndrome
Santos-Mateus-Leal syndrome
Hirschsprung disease-deafness-polydactyly syndrome is an extremely rare malformative association, described in only two siblings to date, characterized by Hirschsprung disease (defined by the presence of an aganglionic segment of variable extent in the terminal part of the colon that leads to symptoms of intestinal obstruction, including constipation and abdominal distension), polydactyly of hands and/or feet, unilateral renal agenesis, hypertelorism and congenital deafness. There have been no further descriptions in the literature since 1988.
Hirschsprung disease-deafness-polydactyly syndrome
use http://www.orpha.net/ORDO/Orphanet_102369 with label: Rare syndromic intellectual disability
OBSOLETE: Hirsutism-skeletal dysplasia-intellectual disability syndrome
HAL deficiency
HIS deficiency
Histidase deficiency
Histidine ammonia-lyase deficiency
Histidinuria
Hyperhistidinemia
Histidinemia is a rare metabolic disorder characterized by elevated histidine levels in blood, urine, and cerebrospinal fluid, generally with no clinical repercussions.
Histidinemia
NCL
Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina.
Neuronal ceroid lipofuscinosis
HPE
Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and 28th day of gestation, and affecting both the forebrain and face, which results in neurological manifestations and facial anomalies of variable severity.
Holoprosencephaly
Camero-Lituania-Cohen syndrome
Genoa syndrome
Holoprosencephaly-craniosynostosis syndrome is a rare developmental defect during embryogenesis syndrome characterized by the association of primary craniosynostosis (usually involving the coronal and metopic sutures) with holoprosencephaly (ranging from alobar to, most commonly, semilobar) and various skeletal anomalies (typically, hand and feet anomalies including fifth digit clinodactyly, hypoplastic phalanges and cone-shaped epiphyses, small vertebral bodies, scoliosis, coxa valga and/or flexion deformities of hips). Craniofacial asymmetry, microcephaly, brachy/plagiocephaly, short stature and psychomotor delay are additional common features.
Holoprosencephaly-craniosynostosis syndrome
Isolated prelingual genetic deafness
Prelingual non-syndromic genetic deafness is a rare, genetically highly heterogeneous otorhinolaryngologic disease, resulting from inner and/or middle ear or auditory nerve anomalies, typically characterized by bilateral, severe to profound hearing loss (mean sensorineural hearing impairment of 60 dB or more for 500-, 1,000-, and 2,000-Hz frequency tones in the better ear) which occurs before the onset of speech development and is not associated with visible external ear abnormalities or any other medical problems. It is usually nonprogressive and impedes oral language acquisition.
Prelingual non-syndromic genetic deafness
Isolated postlingual genetic deafness
Postlingual non-syndromic genetic deafness is a rare, genetically highly heterogeneous otorhinolaryngologic disease, resulting from inner and/or middle ear or auditory nerve anomalies, typically characterized by progressive, bilateral, moderate to profound hearing loss (mean sensorineural hearing impairment equal to 40 dB or more for 500-, 1,000-, and 2,000-Hz frequency tones in the better ear) which occurs after the onset of speech development and is not associated with visible external ear abnormalities or any other medical problems. Language development is not initially significantly delayed..
Postlingual non-syndromic genetic deafness
Holoprosencephaly-caudal dysgenesis syndrome is a central nervous system malformation syndrome characterized by holoprosencephaly with microcephaly, abnormal eye morphology (hypotelorism, cyclopia, exophthalmos), nasal anomalies (single nostril or absent nose), and cleft lip/palate, combined with signs of caudal regression (sacral agenesis, sirenomelia with absent external genitalia).
Holoprosencephaly-caudal dysgenesis syndrome
Pseudo-trisomy 13 syndrome
Holoprosencephaly-postaxial polydactyly syndrome associates, in chromosomally normal neonates, holoprosencephaly, severe facial dysmorphism, postaxial polydactyly and other congenital abnormalities, suggestive of trisomy 13 (see this term).
Holoprosencephaly-postaxial polydactyly syndrome
Complete transposition
TGA
TGV
Transposition of the great vessels
Transposition of the great arteries
Congenitally corrected transposition of the great vessels
Discordant ventriculoarterial and atrioventricular connections
Double discordance
L-transposition of the great arteries
Levo-transposition of the great arteries
Ventricular inversion
Ventriculoarterial and atrioventricular discordance
Congenitally corrected transposition (CCT) of the great vessels is a rare cardiac malformation characterized by the combination of discordant atrioventricular and ventriculo-arterial connections, usually accompanied by other cardiovascular malformations.
Congenitally corrected transposition of the great arteries
Cleft palate-Potter sequence-congenital heart anomalies-mesoaxial polydactyly-multiple malformations syndrome
Holzgreve-Wagner-Rehder syndrome
Holzgreve syndrome is an extremely rare, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by renal agenesis with Potter sequence, cleft lip/palate, oral synechiae, cardiac defects, and skeletal abnormalities including postaxial polydactyly. Intestinal nonfixation and intrauterine growth restriction are also associated. There have been no further descriptions in the literature since 1988.
Holzgreve syndrome
Isolated congenitally uncorrected transposition of the great vessels
Isolated congenitally uncorrected transposition of the great arteries
Congenitally uncorrected transposition of the great vessels with cardiac malformation
TGA with cardiac malformation
Congenitally uncorrected transposition of the great arteries with cardiac malformation
Adair-Dighton syndrome
Mild osteogenesis imperfecta
Non-deforming osteogenesis imperfecta
OI type 1
Van der Hoeve syndrome
Osteogenesis imperfecta type I is a mild type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures.
Osteogenesis imperfecta type 1
Homocarnosinase deficiency
Homocarnosinosis is a metabolic defect characterised by progressive spastic diplegia, intellectual deficit and retinitis pigmentosa. This extremely rare disorder has been reported in only one family, namely a woman and three of her children. The latter showed progressive spastic diplegia, mental retardation and retinitis pigmentosa but their mother was symptom free. It is therefore uncertain whether there is a relationship between the biochemical defect and the clinical symptoms. Inheritance in the reported family seems to be autosomal dominant.
Homocarnosinosis
Lethal osteogenesis imperfecta
OI type 2
Osteogenesis imperfecta type II is a lethal type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type II present multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density on skull X-rays, and dark sclera.
Osteogenesis imperfecta type 2
OI type 3
Progressive deforming osteogenesis imperfecta
Severe osteogenesis imperfecta
Osteogenesis imperfecta type III is a severe type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. The main signs of type III include very short stature, a triangular face, severe scoliosis, grayish sclera, and dentinogenesis imperfecta (DI; see this term).
Osteogenesis imperfecta type 3
OI type 4
Osteogenesis imperfecta type IV is a moderate type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type IV have moderately short stature, mild to moderate scoliosis, grayish or white sclera, and dentinogenesis imperfecta (DI; see this term).
Osteogenesis imperfecta type 4
OI type 5
Osteogenesis imperfecta type V is a moderate type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures with variable severity. OI type V is characterized by mild to moderate short stature, dislocation of the radial head, mineralized interosseous membranes, hyperplasic callus, white sclera and no dentinogenesis imperfecta (DI; see this term).
Osteogenesis imperfecta type 5
NBIA1, classic form
Neurodegeneration with brain iron accumulation type 1, classic form
PKAN, classic form
Classic pantothenate kinase-associated neurodegeneration
NBIA1, atypical form
Neurodegeneration with brain iron accumulation type 1, atypical form
PKAN, atypical form
Atypical pantothenate kinase-associated neurodegeneration
Functional methionine synthase deficiency type cblE
Methylcobalamin deficiency type cblE
Niemann-Pick disease type C, severe perinatal form
Niemann-Pick disease type C, severe early infantile neurologic onset
Niemann-Pick disease type C, late infantile neurologic onset
Niemann-Pick disease type C, classic form
Niemann-Pick disease type C, juvenile neurologic onset
Niemann-Pick disease type C, adult neurologic onset
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_231568 with label: Generalized dominant dystrophic epidermolysis bullosa
Autosomal dominant dystrophic epidermolysis bullosa, Pasini type
Dandy-Walker malformation (DWM) is the association of three signs: hydrocephalus, partial or complete absence of the cerebellar vermis, and posterior fossa cyst contiguous with the fourth ventricle, presenting early in life with hydrocephalus, bulging occiput and posterior fossa signs such as cranial nerve palsies, nystagmus and ataxia.
Isolated Dandy-Walker malformation
Functional methionine synthase deficiency type cblG
Methylcobalamin deficiency type cblG
Genuine diffuse phlebectasia
Bockenheimer syndrome
Spinocerebellar ataxia type 31 (SCA31) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III; see this term) characterized by the late-onset of cerebral ataxia, dysarthria and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense and hearing difficulties.
Spinocerebellar ataxia type 31
Occipital atretic cephalocele-unusual facies-large feet syndrome
Zechi-Ceide syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by occipital atretic cephalocele associated with a specific facial dysmorphism (consisting of prominent forehead, narrow palpebral fissures, midface deficiency, narrow, malformed ears, broad nose and nasal root, grooved nasal tip and columella, laterally angulated, hypoplastic nares, short philtrum, thin upper lip, clift lip/palate, severe oligodontia, prominent chin) and large feet with sandal gap. Intellectual disability, developmental delay and hypoplastic finger and toenails have also been reported.
Zechi-Ceide syndrome
Atypical HUS with thrombomodulin anomaly
D-HUS with thrombomodulin anomaly
Hemolytic-uremic syndrome without diarrhea with thrombomodulin anomaly
aHUS with thrombomodulin anomaly
Atypical hemolytic-uremic syndrome with thrombomodulin anomaly
Hadziselimovic syndrome
Microcephaly-faciocardioskeletal syndrome
Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type is a rare syndrome with cardiac malformations (see this term), characterized by prenatal-onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly and craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac (conotruncal heart malformations such as tetralogy of Fallot; see these terms) and skeletal (hypoplastic thumbs and first metacarpals) abnormalities.
Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_399805 with label: Male infertility with azoospermia or oligozoospermia due to single gene mutation
Male infertility with normal virilization due to meiosis defect
use http://www.orpha.net/ORDO/Orphanet_98992 with label: Early-onset partial cataract
OBSOLETE: Autosomal recessive childhood-onset cortical cataract
use http://www.orpha.net/ORDO/Orphanet_91492 with label: Early-onset non-syndromic cataract
OBSOLETE: Infantile non-syndromic cataract
RI-CMT type A
Autosomal recessive intermediate Charcot-Marie-Tooth disease type A is a subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by severe, early childhood-onset CMT neuropathy with prominent pes equinovarus deformity and impairment of hand muscles. Nerve conduction velocities usually range between 25-35 m/s and both axonal and demyelinating changes are observed on peripheral nerve pathology.
Autosomal recessive intermediate Charcot-Marie-Tooth disease type A
Isolated congenital acropachy
Isolated congenital nail clubbing
Isolated congenital digital clubbing is a rare genodermatosis disorder characterized by enlargement of the terminal segments of fingers and toes with thickened nails without any other abnormality.
Isolated congenital digital clubbing
5-fluorouracil intoxication
5-fluorouracil (5-FU) poisoning is a rare intoxication caused by the prolonged, low-dose administration of 5-FU, which is the mainstay of both adjuvant and advanced-disease chemotherapy regimens in colon cancer. 5-FU poisoning is characterized by gastrointestinal (nausea, emesis, diarrhea, anorexia, stomatitis) and hematologic (myelosuppression) toxicities as well as mucositis, alopecia and, occasionally, palmar-plantar dysesthesia (more commonly known as hand-foot syndrome). Women have been reported to experience more 5-FU-related toxicity than men.
5-fluorouracil poisoning
RCC
Renal cell carcinoma
Rare pancreatic carcinoma
Rare carcinoma of pancreas
Hunter syndrome type A
Iduronate 2-sulfatase deficiency type A
MPS2A
MPSIIA
Mucopolysaccharidosis type 2A
Mucopolysaccharidosis type II, severe form
Mucopolysaccharidosis type IIA
Mucopolysaccharidosis type 2 (MPS2, see this term), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade.
Mucopolysaccharidosis type 2, severe form
Hunter syndrome type B
Iduronate 2-sulfatase deficiency type B
MPS2B
MPSIIB
Mucopolysaccharidosis type 2B
Mucopolysaccharidosis type II, attenuated form
Mucopolysaccharidosis type IIB
Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2 (see this term), leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form (see this term) by the absence of cognitive decline.
Mucopolysaccharidosis type 2, attenuated form
CYP-S1
CYPB
OI9
PPIase
S-cyclophilin
SCYLP
cyclophilin B
peptidyl-prolyl cis-trans isomerase B
rotamase B
peptidylprolyl isomerase B
This syndrome is characterised by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis.
Microcephaly-glomerulonephritis-marfanoid habitus syndrome
Limbic encephalitis with N-methyl-D-aspartate receptor antibodies
Limbic encephalitis with anti-N-methyl-D-aspartate (NMDA) receptor antibodies is a recently described type of encephalitis (see this term) affecting young women with teratoma of ovary (see this term) and associated with antibodies that react with neuronal cell surface auto-antigens.
Limbic encephalitis with NMDA receptor antibodies
PML
Progressive multifocal leukoencephalitis
Progressive multifocal leukoencephalopathy
Bifid nose with or without anorectal and renal anomalies
BNAR syndrome is a very rare multiple congenital anomaly syndrome characterized by a bifid nose (see this term) (with bulbous nasal tip but not associated with hypertelorism) with or without the presence of anal defects (i.e. anteriorly placed anus, rectal stenosis or atresia) and renal dysplasia (unilateral or bilateral renal agenesis, see these terms) and without intellectual disability. BNAR syndrome is phenotypically related to Fraser syndrome and oculotrichoanal syndrome (see these terms).
BNAR syndrome
Cutis verticis gyrata-retinitis pigmentosa-sensorineural deafness syndrome
ADTKD-REN
FJHN type 2
Familial juvenile hyperuricemic nephropathy type 2
REN-associated FJHN
REN-associated familial juvenile hyperuricemic nephropathy
REN-associated kidney disease
Familial juvenile hyperuricemic nephropathy type 2 is a rare autosomal dominantly inherited disease of childhood characterized by hypoproliferative anemia, hyperuricemia and slowly progressing kidney failure due to dysregulation of the renin-angiotensin system (RAS).
REN-related autosomal dominant tubulointerstitial kidney disease
MACS syndrome
Macrocephaly-alopecia-cutis laxa-scoliosis syndrome
RIN2 deficiency
Tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome
RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly (see this term) have also been reported.
RIN2 syndrome
Trisomy 17q21.31
The newly described 17q21.31 microduplication syndrome is associated with a broad clinical spectrum, of which behavioral disorders and poor social interaction seem to be the most consistent.
17q21.31 microduplication syndrome
Monosomy 19q13.11
The 19q13.11 microdeletion is characterized by several major features including pre and postnatal growth retardation, slender habitus, severe postnatal feeding difficulties, microcephaly, intellectual deficit with speech disturbance, hypospadias and ectodermal dysplasia presented by scalp aplasia, thin and sparse hair, eyebrows and eyelashes, thin and dry skin and dysplasic nails.
19q13.11 microdeletion syndrome
Acute infantile liver failure due to synthesis defect of mitochondrial DNA-encoded proteins
Acute infantile liver failure due to mtDNA-encoded proteins synthesis defect is a very rare mitochondrial respiratory chain deficiency described in fewer than 10 infants, primarily of middle Eastern descent, and characterized clinically by transient but life-threatening liver failure with elevated liver enzymes, jaundice, vomiting, coagulopathy, hyperbilirubinemia, and lactic acidemia.
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
Trisomy Xp11.22-p11.23
recurrent Xp11.22-p11.23 microduplication has been recently identified in males and females.
Microduplication Xp11.22-p11.23 syndrome
Neurodegenerative syndrome due to cerebral folate transport deficiency
17p13.3 duplication syndrome
Trisomy 17p13.3
17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features.
17p13.3 microduplication syndrome
CID due to DOCK8 deficiency
Combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency
DOCK8 immunodeficiency syndrome
Combined immunodeficiency due to dedicator of cytokinesis 8 protein (DOCK8) deficiency is a form of T and B cell immunodeficiency characterized by recurrent cutaneous viral infections, susceptibility to cancer and elevated serum levels of immunoglobulin E (IgE).
Combined immunodeficiency due to DOCK8 deficiency
Progressive polyneuropathy with bilateral striatal necrosis is a rare, genetic disorder of thiamine metabolism and transport characterized by the childhood-onset of recurrent episodes of flaccid paralysis and encephalopathy, associated with bilateral striatal necrosis and chronic progressive axonal polyneuropathy with proximal and distal muscle weakness, areflexia, contractures and foot deformities.
Progressive polyneuropathy with bilateral striatal necrosis
Congenital absence of pain with hyperhidrosis
Congenital analgesia with hyperhidrosis
Congenital indifference to pain with hyperhidrosis
Congenital insensitivity to pain with hyperhidrosis
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_35069 with label: Infantile neuroaxonal dystrophy
Hereditary hypotrichosis with recurrent skin vesicles is a very rare inherited hair loss disorder described in a family and characterized by sparse, fragile or absent hair on the scalp, eyebrows, eyelashes, axillae and rest of the body, associated with vesicle formation on various parts of the scalp and body which regularly burst and release watery fluid.
Hereditary hypotrichosis with recurrent skin vesicles
use http://www.orpha.net/ORDO/Orphanet_79489 with label: Macrocystic lymphatic malformation
OBSOLETE: Circumscribed lymphatic malformation
Rare hereditary thrombophilia
Hereditary thrombophilia due to congenital HRG deficiency
Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency is a rare, genetic, coagulation disorder characterized by a tendency to develop thrombosis, resulting from decreased histidine-rich glycoprotein (HRG) plasma levels. Manifestations are variable depending on location of thrombosis, but may include headaches, diplopia, progressive pain, limb swelling, itching or ulceration, and brownish skin discoloration, among others.
Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
Infantile cellular interstitial pneumonitis
PIG
Pulmonary interstitial glycogenosis (PIG) is a rare non-lethal pediatric form of interstitial lung disease (ILD, see this term).
Pulmonary interstitial glycogenosis
NCHI
NEHI
Neuroendocrine cell hyperplasia of infancy (NCHI) is a non-lethal pediatric form of interstitial lung disease (ILD, see this term) characterized by tachypnea without respiratory failure.
Neuroendocrine cell hyperplasia of infancy
Neonatal acute respiratory distress due to surfactant protein B deficiency
Neonatal acute respiratory distress due to SP-B deficiency
Chronic respiratory distress with surfactant metabolism deficiency is a rare, genetic, primary interstitial lung disease with a highly variable clinical presentation, ranging from neonatal respiratory distress syndrome to mild to severe interstitial lung disease (typical symptoms include cough, tachypnea, hypoxia, clubbing, crackles, failure to thrive). Lung biopsy reveals diffuse alveolar damage, interstitial thickening with inflammatory infiltrates, fibroblast proliferation, collagen deposition, and multiple foci of fibrosis, alveolar type II cell hyperplasia, abundant foamy alveolar macrophages and granular lipoproteic material in the alveolar lumen. Imaging shows cystic spaces and ground-glass opacities that are typically homogenously diffuse.
Chronic respiratory distress with surfactant metabolism deficiency
Hypertrophic cardiomyopathy
GSD with hypertrophic cardiomyopathy
Glycogenosis with hypertrophic cardiomyopathy
Glycogen storage disease with hypertrophic cardiomyopathy
Lysosomal disease with hypertrophic cardiomyopathy
Mitochondrial disease with hypertrophic cardiomyopathy
Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy
Syndrome associated with hypertrophic cardiomyopathy
Non-familial hypertrophic cardiomyopathy
Infantile systemic hyalinosis (ISH) is a very rare disorder belonging to the heterogeneous group of genetic fibromatoses and is characterized by progressive joint contractures, skin abnormalities, severe chronic pain and widespread deposition of hyaline material in many tissues such as the skin, skeletal muscle, cardiac muscle, gastrointestinal tract, lymph nodes, spleen, thyroid, and adrenal glands.
Infantile systemic hyalinosis
Hypertrophic cardiomyopathy due to intensive athletic training
Dilated cardiomyopathy
Familial dilated cardiomyopathy
Neuromuscular disease with dilated cardiomyopathy
Mitochondrial disease with dilated cardiomyopathy
Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy
Syndrome associated with dilated cardiomyopathy
Neurosensory deafness with dilated cardiomyopathy
Neurosensory hearing loss with dilated cardiomyopathy
Sensorineural hearing loss with dilated cardiomyopathy
Sensorineural deafness with dilated cardiomyopathy is an extremely rare autosomal dominant syndrome described in two families to date and characterized by moderate to severe sensorineural hearing loss manifesting during childhood, and associated with late-onset dilated cardiomyopathy that generally progresses to heart failure.
Sensorineural deafness with dilated cardiomyopathy
Non-familial dilated cardiomyopathy
Restrictive cardiomyopathy
Familial restrictive cardiomyopathy
Lysosomal disease with restrictive cardiomyopathy
Familial isolated ARVC
Familial isolated ARVD
Familial isolated arrhythmogenic right ventricular cardiomyopathy
Familial isolated arrhythmogenic ventricular cardiomyopathy
Familial isolated arrhythmogenic ventricular dysplasia
Familial isolated arrhythmogenic right ventricular dysplasia (ARVC) is the familial autosomal dominant form of ARVC (see this term), a heart muscle disease characterized by life-threatening ventricular arrhythmias with left bundle branch block configuration that may manifest with palpitations, ventricular tachycardia, syncope and sudden fatal attacks, and that is due to dystrophy and fibro-fatty replacement of the right ventricular myocardium that may lead to right ventricular aneurysms.
Familial isolated arrhythmogenic right ventricular dysplasia
Unclassified cardiomyopathy
Hydranencephaly
Non-familial restrictive cardiomyopathy
Darier-White disease
Keratosis follicularis
Darier disease (DD) is a keratinization disorder characterized by the development of keratotic papules in seborrheic areas and specific nail anomalies.
Darier disease
Ferlini-Ragno-Calzolari syndrome
Waaler-Aarskog syndrome
This syndrome is characterised principally by Sprengel anomaly (upward displacement of the scapula) and hydrocephaly. Other anomalies such as psychomotor retardation, psychosis, brachydactyly, and costovertebral dysplasia may also be present.
Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome
JK1
reticulophagy regulator 1
SCAN-1
SHAPY
Soluble Ca-Activated Nucleotidase, isozyme 1
calcium activated nucleotidase 1
RNA binding motif protein 20
CILD13
ODA7
outer row dynein assembly 7 homolog (Chlamydomonas)
swt
dynein axonemal assembly factor 1
IKBKBBP
KIAA1882
MRT13
NIBP
TRAPP 120 kDa subunit
TRS120
tularik gene 1
trafficking protein particle complex 9
Daish-Hardman-Lamont syndrome
Hydrocephaly-tall stature-joint laxity syndrome is a multiple congenital anomalies syndrome described in two sisters and characterized by the presence of hydrocephalus (onset in infancy), tall stature, joint laxity, and thoracolumbar kyphosis. There have been no further descriptions in the literature since 1989.
Hydrocephaly-tall stature-joint laxity syndrome
Bickers-Adams syndrome
HSAS
X-linked HSAS
X-linked acqueductal stenosis
X-linked hydrocephalus
X-linked hydrocephalus with stenosis of aqueduct of Sylvius
Hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome, see this term). HSAS is characterized by severe hydrocephalus mostly with prenatal onset, signs of intracranial hypertension, adducted thumbs, spasticity, and severe intellectual deficit. HSAS represents the severe end of the spectrum and is associated with poor prognosis.
Hydrocephalus with stenosis of the aqueduct of Sylvius
Sengers-Hamel-Otten syndrome
This syndrome is characterized by the association of congenital hydrocephalus, centripetal obesity, hypogonadism, intellectual deficit and short stature.
Hydrocephalus-obesity-hypogonadism syndrome
LQT12
TACIP1
dystrophin-associated protein A1, 59kDa, acidic component
pro-TGF-alpha cytoplasmic domain-interacting protein 1
syntrophin alpha 1
major histocompatibility complex, class I, A
use http://www.orpha.net/ORDO/Orphanet_75249 with label: Familial isolated restrictive cardiomyopathy
OBSOLETE: Familial restrictive cardiomyopathy type 3
Rare cardiac rhythm disease
Non-genetic cardiac rhythm disease
Congenital hydrocephalus
Daentl-Townsend-Siegel syndrome
Hydrocephalus-blue sclera-nephropathy syndrome is a rare, genetic, renal or urinary tract malformation syndrome characterized by nephrotic syndrome with focal segmental sclerosis associated with hydrocephalus, thin skin and blue sclerae. There have been no further descriptions in the literature since 1978.
Hydrocephalus-blue sclerae-nephropathy syndrome
KIAA0089
glycerol-3-phosphate dehydrogenase 1 like
sodium voltage-gated channel beta subunit 3
Hydrolethalus (HLS) is a severe fetal malformation syndrome characterized by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities.
Hydrolethalus
Delta-sarcoglycanopathy
Limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency
Autosomal recessive limb-girdle muscular dystrophy type 2F (LGMD2F) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable age of onset of progressive weakness and wasting of the proximal skeletal muscles of the shoulder and pelvic girdles, frequently associated with progressive respiratory muscle impairment and cardiomyopathy. Calf hypertrophy, muscle cramps and elevated serum creatine kinase levels are also observed. Neuropsychomotor development is usually normal.
Autosomal recessive limb-girdle muscular dystrophy type 2F
Congenital hydronephrosis is a renal urinary disease characterized by distension and dilation of the renal pelvis and calyces secondary to various congenital obstructive malformations of the kidneys and urinary tract that can evolve to renal atrophy.
Congenital hydronephrosis
Anti-HLA hyperimmunization is an increase in anti-HLA antigens mostly seen in chronic renal failure (CRF) patients that have undergone hemodialysis and polytransfusion.
Anti-HLA hyperimmunization
Glutamate-aspartate transport defect
Dicarboxylicaminoaciduria is characterised by infantile-onset hypoglycaemia and hyperprolinaemia associated, in certain cases, with intellectual deficit.
Dicarboxylic aminoaciduria
FHHNC with severe ocular involvement
Hypercalciuria-bilateral macular coloboma syndrome
Meier-Blumberg-Imahorn syndrome
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement (FHHNCOI) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by excessive magnesium and calcium renal wasting, bilateral nephrocalcinosis, progressive renal failure and severe ocular abnormalities.
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement
Idiopathic hypercalciuria
Bennion-Patterson syndrome
Howell-Evans syndrome
Keratosis palmoplantaris-esophageal carcinoma syndrome
Palmoplantar hyperkeratosis-esophageal carcinoma syndrome
Tylosis-oesophageal carcinoma syndrome
Palmoplantar keratoderma-esophageal carcinoma syndrome
Diffuse erythrodermic palmoplantar keratoderma, Voerner type
Diffuse erythrodermic palmoplantar keratoderma, Vörner type
Epidermolytic palmoplantar keratoderma of Voerner
Epidermolytic palmoplantar keratoderma of Vörner
Epidermolytic palmoplantar keratoderma
4-hydroxybutyric aciduria
Gamma-hydroxybutyric aciduria
SSADH deficiency
Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare neurometabolic disorder of gamma-aminobutyric acid (GABA) metabolism with a nonspecific clinical presentation (ranging from mild to severe) with the most frequent symptoms being cognitive impairment with prominent deficit in expressive language, hypotonia, ataxia, epilepsy, and behavioral dysregulation.
Succinic semialdehyde dehydrogenase deficiency
Drash syndrome
Wilms tumor-DSD syndrome
Wilms tumor-disorder of sex development syndrome
Denys-Drash syndrome (DDS) is a rare urogenital disorder characterized by the association of diffuse mesangial sclerosis (DMS), male pseudohermaphroditism with a 46,XY karyotype, and nephroblastoma.
Denys-Drash syndrome
Focal palmoplantar and gingival hyperkeratosis
Focal palmoplantar and gingival keratoderma is a very rare form of focal palmoplantar keratoderma characterized by painful circumscribed hyperkeratotic lesions on weight-bearing areas of soles, moderate focal hyperkeratosis of palmar pressure-related areas and an asymptomatic leukokeratosis confined to labial- and lingual- attached gingiva. Additional occasional features may include hyperhidrosis, follicular keratosis and extended oral mucosa involvement.
Focal palmoplantar and gingival keratoderma
Palmoplantar hyperkeratosis-spastic paralysis syndrome
Powell-Venencie-Gordon syndrome
Palmoplantar keratoderma-spastic paralysis syndrome
PPK-deafness syndrome
Palmoplantar hyperkeratosis-deafness syndrome
Palmoplantar hyperkeratosis-hearing loss syndrome
Palmoplantar keratoderma-hearing loss syndrome
Palmoplantar keratoderma-deafness syndrome is a keratinization disorder characterized by focal or diffuse palmoplantar keratoderma. A patchy distribution is observed with accentuation on the thenars, hypothenars and the arches of the feet. The disease becomes apparent in infancy and is associated with sensorineural hearing loss that shows a variable age of onset. Due to genetic and clinical similarities, it has been proposed that palmoplantar keratoderma-deafness syndrome, knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome and keratoderma hereditarium mutilans may represent variants of one broad disorder of syndromic deafness with heterogeneous phenotype. The disease is transmitted in an autosomal dominant manner with incomplete penetrance.
Palmoplantar keratoderma-deafness syndrome
XP/CS complex
Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) (see this term) together with the systemic and neurological features of Cockayne syndrome (CS; see this term).
Xeroderma pigmentosum-Cockayne syndrome complex
Hyperlysinemia type I
Lysine alpha-ketoglutarate reductase deficiency
Hyperlysinaemia is a lysine metabolism disorder characterised by elevated levels of lysine in the cerebrospinal fluid and blood. Variable degrees of saccharopinuria are also present.
Hyperlysinemia
Semilobar holoprosencephaly is one of the classical forms of holoprosencephaly (HPE; see this term) in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly.
Semilobar holoprosencephaly
Diffuse cutaneous systemic scleroderma
Progressive cutaneous systemic scleroderma
Progressive cutaneous systemic sclerosis
Diffuse cutaneous systemic sclerosis (dcSSc) is a subtype of Systemic Sclerosis (SSc; see this term) characterized by truncal and acral skin fibrosis with an early and significant incidence of diffuse involvement (interstitial lung disease, oliguric renal failure, diffuse gastrointestinal disease, and myocardial involvement).
Diffuse cutaneous systemic sclerosis
Kozlowski-Tsuruta syndrome
Dysplastic cortical hyperostosis is an extremely rare primary bone dysplasia with increased bone density characterized by lethal neonatal dwarfism with hydrops, narrow chest and short limbs with extensive cortical thickening of all long bones, ribs, clavicles and scapulae, and coronal clefts in vertebral bodies.
Dysplastic cortical hyperostosis
Limited cutaneous systemic scleroderma
Limited cutaneous systemic sclerosis (lcSSc) is a subtype of systemic sclerosis (SSc; see this term) characterized by the association of Raynaud's phenomenon with skin fibrosis limited to the hands, face, feet and forearms.
Limited cutaneous systemic sclerosis
Systemic sclerosis sine scleroderma
Limited systemic sclerosis (lSSc) (or SSc sine scleroderma) is a subset of systemic sclerosis (SSc; see this term) characterized by organ involvement in the absence of fibrosis of the skin.
Limited systemic sclerosis
Factor V Quebec
Quebec platelet syndrome (QPS) is a platelet granule disorder characterized by moderate to severe bleeding after trauma, surgery or obstetric interventions, frequent ecchymoses, mucocutaneous bleeding and muscle and joint bleeds.
Quebec platelet disorder
Bleeding diathesis due to thromboxane synthesis deficiency is a rare, genetic, isolated constitutional thrombocytopenia disease characterized by impaired platelet aggregation resulting from a defect in thromboxane synthesis or signaling, manifesting with mild to moderate mucocutaneous, gastrointestinal or surgical bleeding (e.g. easy bruising, prolonged epistaxis, excessive bleeding after a tooth extraction).
Bleeding diathesis due to thromboxane synthesis deficiency
Macrothrombocytopenia with mitral valve insufficiency is a rare hemorrhagic disorder due to a platelet anomaly characterized by dysfunctional platelets of abnormally large size, moderate thrombocytopenia, prolonged bleeding time and mild bleeding diathesis (ecchymoses and epistaxis), associated with mitral valve insufficiency.
Macrothrombocytopenia with mitral valve insufficiency
Isolated hereditary macrothrombocytopenia
Isolated inherited giant platelet disorder
Isolated inherited macrothrombocytopenia
Isolated hereditary giant platelet disorder
AFAP
Attenuated FAP
Attenuated familial polyposis coli
Attenuated familial adenomatous polyposis (AFAP) is a mild form of familial adenomatous polyposis characterized by the presence of fewer than 100 adenomatous colonic polyps, a more proximal colonic location, a delayed age of colorectal cancer (CRC) onset and a more limited expression of the extracolonic features.
Attenuated familial adenomatous polyposis
Laron-like syndrome
Short stature due to STAT5b deficiency
This syndrome is characterized by severe growth retardation associated with immunodeficiency.
Laron syndrome with immunodeficiency
Iron overload disease
Rare hereditary hemochromatosis comprises the rare forms of hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition. These rare forms are hemochromatosis type 2 (juvenile), type 3 (TFR2-related), and type 4 (ferroportin disease) (see these terms). Hemochromatosis type 1 (also called classic hemochromatosis; see this term) is not a rare disease.
Rare hereditary hemochromatosis
JS-O
Joubert syndrome with retinopathy
Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD, see these terms) characterized by the neurological features of JS associated with retinal dystrophy.
Joubert syndrome with ocular defect
JS-R
Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy.
Joubert syndrome with renal defect
This syndrome is characterized by the association of ankylosing vertebral hyperostosis with hyperkeratosis of the soles and palms.
Ankylosing vertebral hyperostosis with tylosis
Familial primary hyperparathyroidism
CRL
CRL3
GLM-R
Glmr
IL-31RA
interleukin 31 receptor A
KIAA1983
collagen and calcium binding EGF domains 1
KIAA0862
SOC-2
SOC2
SUR-8
SUR8
SHOC2, leucine rich repeat scaffold protein
Hyperphenylalaninemic embryopathy
Maternal PKU
Maternal hyperphenylalaninemia
Phenylketonuric embryopathy
Maternal phenylketonuria (PKU) is a rare disorder of phenylalanine metabolism (see this term), an inborn error of amino acid metabolism, characterized by the development of microcephaly, growth retardation, congenital heart disease, facial dysmorphism and intellectual disability in nonphenylketonuric offspring of mothers with excess phenylalanine (Phe) concentrations.
Maternal phenylketonuria
HPRG
HRGP
histidine-proline rich glycoprotein
thrombophilia due to elevated HRG
histidine rich glycoprotein
C9orf143
C9orf145
TILRR
FRAS1 related extracellular matrix 1
RASSF4
Ras and Rab interactor 2
folate receptor alpha
folate receptor 1
ZIR8
dedicator of cytokinesis 8
CDHF3
DSC
DSC1
DSC2
desmocollin 3
Adult dermatomyositis
Dermatomyositis (DM) is a type of idiopathic inflammatory myopathy characterized by evocative skin lesions and symmetrical proximal muscle weakness.
Dermatomyositis
Poikiloderma of Rothmund-Thomson type 1
RTS1
Rothmund-Thomson syndrome type 1 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, and rapidly progressive bilateral juvenile cataracts. In contrast to RTS2 (see this term), patients with RTS1 do not appear to have an increased risk of developing cancer.
Rothmund-Thomson syndrome type 1
Poikiloderma of Rothmund-Thomson type 2
RTS2
Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life.
Rothmund-Thomson syndrome type 2
Hereditary sclerosing poikiloderma, Weary type
POIKTMP syndrome
Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome is a rare, genetic, hereditary poikiloderma syndrome characterized by early-onset poikiloderma (mainly on the face), hypotrichosis, hypohidrosis, muscle and tendon contractures with varus foot deformity, progressive proximal and distal muscle weakness in all extremities, and progressive pulmonary fibrosis. Mild lymphedema of the extremities, growth retardation, liver impairment, exocrine pancreatic insufficiency and hematologic abnormalities are additional variable features.
Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome
Poikiloderma with neutropenia, Clericuzio type
Poikiloderma with neutropenia is a rare, genetic hereditary poikiloderma disorder characterized by early-onset poikiloderma (which typically begins in the extremities, progresses centripetally and eventually involves the trunk, face and ears) associated with chronic neutropenia, recurrent infections, pachyonychia and palmoplantar keratoderma. Growth and/or develomental delay and hepato- and/or splenomegaly are additional reported features.
Poikiloderma with neutropenia
Acrocephalopolydactylous dysplasia
Elejalde syndrome
Acrocephalopolydactyly, also known as Elejalde syndrome, is an extremely rare lethal autosomal recessive disorder characterized by massive birth weight, swollen globular body, generalized edema, short limbs, postaxial polydactyly, thick skin, facial dysmorphism (slanted palpebral fissures, hypertelorism, epicanthic folds, dysplastic ears), excessive connective tissue, renal dysplasia, and in some patients, organomegaly, craniosynostosis with acrocephaly, omphalocele, cleft palate, and cryptorchidism. Fewer than 10 cases have been reported to date.
Acrocephalopolydactyly
Familial brain cavernous angioma
Familial brain cavernous hemangioma
Familial cerebral cavernoma
Hereditary brain cavernous angioma
Hereditary brain cavernous hemangioma
Hereditary cerebral cavernoma
Hereditary cerebral cavernous malformation
Familial cerebral cavernous malformation (FCCM) is a rare evolutive vascular malformation disorder characterized by closely clustered irregular dilated capillaries that can be asymptomatic or that can cause variable neurological manifestations such as seizures, non-specific headaches, progressive or transient focal neurologic deficits, and/or cerebral hemorrhages.
Familial cerebral cavernous malformation
MBD
Marchiafava-Bignami disease
Combined hyperactive dysfunction syndrome of the cranial nerves is a rare, acquired peripheral neuropathy characterized by symptoms arising from combined overactivity in cranial nerves, without any explanatory structural lesion. The symptoms may be unilateral or bilateral, may occur synchronously or metachronously, and include trigeminal neuralgia, hemifacial spasm and glossopharyngeal neuralgia.
Combined hyperactive dysfunction syndrome of the cranial nerves
Facial hemispasm
Focal myoclonus of face
Hemifacial spasm
Trigeminal neuralgia
Glossopharyngeal neuralgia
Acrofrontofacionasal dysostosis type 2
Acrofrontofacionasal syndrome type 2
Naguib-Richieri-Costa syndrome
Hypertelorism-hypospadias-polysyndactyly syndrome is a very rare syndrome associating an acro-fronto-facio-nasal dysostosis with genitourinary anomalies.
Hypertelorism-hypospadias-polysyndactyly syndrome
Isolated facial myokymia
Facial neuralgia
Cranial neuralgia
Acquired peripheral movement disorder
Gerstmann syndrome is a very rare neurological disorder characterized by the specific association of acalculia, finger agnosia, left-right disorientation, and agraphia, which is supposed to be secondary to a focal subcortical white matter damage in the parietal lobe.
Gerstmann syndrome
ASSA
Aminopterin syndrome-like sine aminopterin
Pseudoaminopterin syndrome is a developmental anomalies syndrome that resembles the aminopterin embryopathy (see this term) without history of fetal exposure to aminopterin. It is characterized by skull (craniosynostosis and poorly mineralized cranial vault), dysmorphic (ocular hypertelorism, palpebral fissure anomalies, micrognathia cleft lip and/or high arched palate and small and low set/rotated ears) and limb (brachydactyly, syndactyly and clinodactyly) anomalies, associated with mild-to-moderate intellectual deficit and short stature.
Pseudoaminopterin syndrome
Cerebral proliferative glomeruloid vasculopathy
Encephaloclastic proliferative vasculopathy
Hydrocephaly/hydranencephaly due to cerebral vasculopathy
Proliferative vasculopathy and hydranencephaly/hydrocephaly
Fowler syndrome
Roifman-Chitayat syndrome
Combined immunodeficiency with faciooculoskeletal anomalies is an extremely rare combined immunodeficiency disorder characterized by primary immunodeficiency manifesting with repeated bacterial, viral and fungal infections, in association with neurological manifestations (hypotonia, cerebellar ataxia, myoclonic seizures), developmental delay, optic atrophy, facial dysmorphism (high forehead, hypoplastic supraorbital ridges, palpebral edema, hypertelorism, flat nasal bridge, broad nasal root and tip, anteverted nares, thin lower lip overlapped by upper lip, square chin) and skeletal anomalies (short metacarpals/metatarsals with cone-shaped epiphyses, osteopenia).
Combined immunodeficiency with faciooculoskeletal anomalies
Confetti-like macular atrophy
ARCL1C
Autosomal recessive cutis laxa type 1C
Urban-Rifkin-Davis syndrome
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
Pitt-Hopkins-like syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by severe intellectual disability, lack of speech with normal, or mildly delayed, motor development, episodic breathing abnormalities, early-onset seizures and facial dysmorphism which only includes a wide mouth. Abnormal sleep-wake cycles, autistic behavior and stereotypic movements are commonly associated.
Pitt-Hopkins-like syndrome
complement C1q A chain
complement C1q B chain
complement C1q C chain
complement C1s
EJ16
EJ30
EL32
CD59 molecule (CD59 blood group)
B-cell antigen receptor complex-associated protein alpha chain
MB-1
CD79a molecule
CD8a molecule
ADN
adipsin
complement factor D
immunoglobulin heavy constant gamma 2 (G2m marker)
Bixler-Christian-Gorlin syndrome
HMC syndrome
Hypertelorism-microtia-facial clefting syndrome, or HMC syndrome, is a very rare syndrome characterized by the combination of hypertelorism, cleft lip and palate and microtia.
Hypertelorism-microtia-facial clefting syndrome
lamin B2
HSPC244
JBTS2
transmembrane protein 216
N-ras
NRAS proto-oncogene, GTPase
BRR2
HELIC2
KIAA0788
U5 snRNP specific protein, 200 KD
U5-200KD
bad response to refrigeration 2 homolog (S. cerevisiae)
small nuclear ribonucleoprotein U5 subunit 200
LH2D1
lipoxygenase homology domains 1
Froster-Iskenius-Waterson-Hall syndrome
Malignant hyperthermia-arthrogryposis-torticollis syndrome
Malignant hyperthermia-arthrogryposis-torticollisis an extremely rare arthrogryposis syndrome, described in only two pairs of siblings from two unrelated families to date, and characterized by the association of arthrogryposis, congenital torticollis, dysmorphic facial features (i.e. asymmetry of the face, myopathic facial movements, ptosis, posteriorly rotated ears, cleft palate), progressive scoliosis and episodes of malignant hyperthermia. There have been no further descriptions in the literature since 1988.
Multiple pterygium-malignant hyperthermia syndrome
Maternal hyperthermia induced birth defects is a rare maternal disease-related embryofetopathy characterized by variable developmental anomalies of the fetus due to teratogenic effect of elevated maternal body temperature (resulting from febrile illness or hot environment exposure). Reported developmental anomalies include neural tube defects (spina bifida, ecephalocele, anencephaly), cardiac defects (transposition of great vessels), urogenital defects (hypospadias), abdominal wall defects, cleft lip/palate, eye defects (cataract, coloboma) or various minor anomalies (e.g., bifid uvula, preauricular pit or tag). Consensus regarding cause-effect relationship has not been reached.
Maternal hyperthermia-induced birth defects
Cervical hypertrichosis peripheral neuropathy is a rare syndrome characterized by the association of congenital hypertrichosis in the anterior cervical region with peripheral sensory and motor neuropathy. It has been described in three members of the same family and in one unrelated boy. Associated features in the familial cases include retinal anomalies, spina bifida, kyphoscoliosis and hallux valgus, while that in the non-familial case includes developmental delay. An autosomal recessive mode of inheritance is suggested. There have been no further descriptions in the literature since 1993.
Cervical hypertrichosis-peripheral neuropathy syndrome
70 years old) and characterized by the development of painful pustules, shallow erosions, and crusting on atrophic skin that eventually result in cicatricial alopecia.
Erosive pustular dermatosis of the scalp
Hairy elbows syndrome
MacDermot-Patton-Williams syndrome
Hypertrichosis cubiti is a rare hair anomaly characterized by symmetrical, congenital or early-onset, bilateral hypertrychosis localized on the externsor surfaces of the upper extremities (especially the elbows). Short stature, or other abnormalities, such as developmental delay, facial anomalies and intellectual disability, may or may not be associated.
Hypertrichosis cubiti
Acquired hypertrichosis lanuginosa is a rare cutaneous paraneoplastic disease characterized by the presence of excessive lanugo-type hair on the glabrous skin of face, neck, trunk and limbs that can be associated with additional clinical features such as burning glossitis, papillary hypertrophy of the tongue, diarrhea, dysgeusia, and/or weight loss. It is associated with lymphoma or cancer of the gastrointestinal system, urinary tract, lung, breast, uterus or ovary.
Acquired hypertrichosis lanuginosa
Hypertrichosis universalis
Hypertrichosis lanuginosa congenita is a rare congenital skin disease characterized by the presence of 3 to 5cm long lanugo-type hair on the entire body, with the exception of palms, soles, and mucous membranes.
Hypertrichosis lanuginosa congenita
Familial hypertryptophanemia is characterized by intellectual deficit associated with behavioral problems: periodic mood swings, exaggerated affective responses and abnormal sexual behavior. Twelve cases have been reported so far. Congenital abnormalities in tryptophan metabolism appear to be responsible for the tryptophanemia and tryptophanuria.
Hypertryptophanemia
Hereditary poikiloderma
Hypodontia-nail dysgenesis syndrome
Tooth and nail syndrome
Witkop syndrome
Hypodontia-nail dysplasia syndrome is a form of ectodermal dysplasia.
Hypodontia-dysplasia of nails syndrome
Cardiogenital syndrome
Malouf syndrome
Najjar syndrome
This syndrome is characterized by the association of dilated cardiomyopathy and hypergonadotropic hypogonadism (DCM-HH).
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
Nephrogenic diabetes insipidus (NDI) is characterized by polyuria with polydipsia, recurrent bouts of fever, constipation, and acute hypernatremic dehydration after birth that may cause neurological sequelae. Polyuria may exceed 10 litres in children.
Nephrogenic diabetes insipidus
Salti-Salem syndrome
This syndrome is characterized by the association of hypogonadotropic hypogonadism and frontoparietal alopecia.
Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome
Al Awadi-Farag-Teebi syndrome
This syndrome is characterized by primary hypergonadotropic hypogonadism and partial alopecia.
Primary hypergonadotropic hypogonadism-partial alopecia syndrome
Cantalamessa-Baldini-Ambrosi syndrome
This syndrome is characterized by the association of hypogonadism due to primary gonadal failure, mitral valve prolapse, mild intellectual deficit and short stature.
Hypogonadism-mitral valve prolapse-intellectual disability syndrome
Sohval-Soffer syndrome
This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.
Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome
UPA
URK
plasminogen activator, urokinase
Chang-Davidson-Carlson syndrome
This syndrome is characterized by the association of hypogonadotropic hypogonadism (with primary amenorrhea and lack of secondary sexual development) and retinitis pigmentosa (see this term). It has been described in two sisters born to nonconsanguineous parents.
Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome
ICHYN
ichthyin
NIPA like domain containing 4
Barakat syndrome
HDR syndrome
Hypoparathyroidism-sensorineural deafness-renal disease syndrome is a rare, clinically heterogeneous genetic disorder characterized by the triad of hypoparathyroidism (H), sensorineural deafness (D) and renal disease (R).
Hypoparathyroidism-sensorineural deafness-renal disease syndrome
OXPHOS disease
Mitochondrial oxidative phosphorylation disorder
Bone sarcoma
Lymphoma
Familial isolated hypoparathyroidism (FIH) is a rare heterogeneous group of metabolic disorders characterized by abnormal calcium metabolism due to deficient secretion of parathormone (PTH), without other endocrine disorders or developmental defects.
Familial isolated hypoparathyroidism
X-linked recessive hypoparathyroidism (XLHPT) is a very rare cause of hypoparathyroidism. It has been reported in two multigeneration families from Missouri. Affected males suffer from true neonatal idiopathic hypoparathyroidism leading to severe hypocalcemia with undetectable parathyroid hormone levels and epilepsy. They are also sterile. Carrier females are normocalcemic and asymptomatic. XLHPT is caused by congenital parathyroid gland agenesis. The XLHPT locus has been mapped to chromosome Xq26-q27, in a 1.5 Mb interval flanked by markers F9 and DXS984. Neonatal onset and parathyroid agenesis found at autopsy in one of the patients suggest that the gene involved in XLHPT plays a role in parathyroid gland development.
Familial isolated hypoparathyroidism due to agenesis of parathyroid gland
NDM
Neonatal diabetes mellitus presents as hyperglycemia, failure to thrive and, in some cases, dehydration and ketoacidosis which may be severe with coma, in a child within the first months of life.
Neonatal diabetes mellitus
Berdon syndrome
MMIHS
Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome
Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital disease characterized by massive abdominal distension caused by a largely dilated non-obstructed urinary bladder (megacystis), microcolon and decreased or absent intestinal peristalsis.
Megacystis-microcolon-intestinal hypoperistalsis syndrome
Hypopituitarism-micropenis-cleft lip/palate syndrome
use http://www.orpha.net/ORDO/Orphanet_420584 with label: Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
OBSOLETE: Hypopituitarism-postaxial polydactyly syndrome
Cerebellar hypoplasia-tapetoretinal degeneration syndrome is a rare syndrome with a cerebellar malformation as a major feature characterized by cerebellar hypoplasia, bilateral retinal pigmentary changes, intellectual disability that can range from mild to moderate and pronounced language development delay. It presents with early developmental delay, central and peripheral non-progressive visual impairment or asymptomatic retinal changes, hypotonia, non-progressive ataxia and nystagmus.
Cerebellar hypoplasia-tapetoretinal degeneration syndrome
HLHS
Hypoplastic left heart syndrome (HLHS) refers to the abnormal development of the left-sided cardiac structures, resulting in obstruction to blood flow from the left ventricular outflow tract. In addition, the syndrome includes underdevelopment of the left ventricle, aorta, and aortic arch, as well as mitral atresia or stenosis.
Hypoplastic left heart syndrome
Ulna hypoplasia - intellectual deficit is a very rare syndrome characterized by mesomelic shortness of the forearms, bilateral clubfeet, aplasia or hypoplasia of all nails and severe psychomotor retardation.
Ulna hypoplasia-intellectual disability syndrome
MIDD
Mitochondrial diabetes
Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized by maternally transmitted diabetes and sensorineural deafness.
Maternally-inherited diabetes and deafness
Bosma arhinia-microphthalmia syndrome
Bosma-Henkin-Christiansen syndrome
This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism.
Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome
Thumb deformity-alopecia-pigmentation anomaly syndrome is a rare, genetic, congenital limb malformation syndrome characterized by short stature, sparse scalp hair, hypoplastic, proximally-placed thumbs, and skin hyperpigmentation with areas of 'raindrop' depigmentation. Presence of a single, upper central incisor has also been reported. There have been no further descriptions in the literature since 1988.
Thumb deformity-alopecia-pigmentation anomaly syndrome
TFR2-related hemochromatosis
Type 3 hemochromatosis is a form of rare hereditary hemochromatosis (HH) (see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin.
Hemochromatosis type 3
ABSN
Acute bilateral striatal necrosis
Sporadic IBSN
Sporadic infantile striatonigral degeneration
Sporadic infantile striatonigral necrosis
Sporadic infantile bilateral necrosis is the sporadic form of infantile bilateral striatal necrosis (IBSN; see this term), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis.
Sporadic infantile bilateral striatal necrosis
Familial IBSN
Familial infantile striatonigral degeneration
Familial infantile striatonigral necrosis
Familial infantile bilateral striatal necrosis is the familial form of infantile bilateral striatal necrosis (IBSN; see this term), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis.
Familial infantile bilateral striatal necrosis
Schmitt-Gillenwater-Kelly syndrome
Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome is characterised by symmetric, nonopposable triphalangeal thumbs and radial hypoplasia. It has been described in eight patients (five females and three males) spanning generations of a family. The affected males also presented with hypospadias. The syndrome is inherited as an autosomal dominant trait.
Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome
HVSL motif containing 1
HVSL1
Mpn1
U six biogenesis 1
mutated in poikiloderma with neutropenia protein 1
poikiloderma with neutropenia
U6 snRNA biogenesis phosphodiesterase 1
LTBP-4
LTBP-4L
latent transforming growth factor beta binding protein 4
CSNB1C
LTRPC1
transient receptor potential cation channel subfamily M member 1
caspase recruitment domain family member 9
CD369
SCARE2
dectin-1
hDectin-1
C-type lectin domain containing 7A
WD repeat domain 72
O'Donnell-Pappas syndrome
Foveal hypoplasia-presenile cataract syndrome is a rare, genetic ocular disease characterized by congenital nystagmus (horizontal, vertical and/or torsional), foveal hypoplasia, presenile cataracts (with typical onset in the second to third decade of life), and normal irides. Corneal pannus and/or optic nerve hypoplasia may also be present.
Foveal hypoplasia-presenile cataract syndrome
NELIN
nexilin
nexilin F-actin binding protein
PPP1R88
protein phosphatase 1, regulatory subunit 88
glutaredoxin and cysteine rich domain containing 1
RAB39B, member RAS oncogene family
S10
ribosomal protein S10
40S ribosomal protein S26
S26
eS26
ribosomal protein S26
NET-2
tetraspanin 12
SH3 and PX domains 2B
ATP-dependent helicase SMARCA4
BAF190
BRG1
BRM/SWI2-related gene 1
SNF2
SNF2-BETA
SNF2-like 4
SNF2LB
SWI2
brahma protein-like 1
global transcription activator homologous sequence
hSNF2b
homeotic gene regulator
mitotic growth and transcription activator
nuclear protein GRB1
sucrose nonfermenting-like 4
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
keratin 6C
CEV14
GMAP-210
GMAP210
Trip230
golgi-microtubule-associated-protein of 210 kDa
thyroid hormone receptor interactor 11
inverted formin 2
inverted formin, FH2 and WH2 domain containing
dihydroorotate dehydrogenase (quinone)
Norman disease
PCH1
Pontocerebellar hypoplasia type 1 (PCH1), also known as Norman's disease, is a clinically and genetically heterogeneous group of autosomal recessive disorders with a prenatal onset characterized by diffuse muscular atrophy secondary to pontocerebellar hypoplasia and spinal cord anterior horn cell degeneration resulting in early death.
Pontocerebellar hypoplasia type 1
GPVI
platelet glycoprotein VI
glycoprotein VI platelet
Yorifuji-Okuno syndrome
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome is characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies (including transposition of the great vessels, ventricular or atrial septal defects, pulmonary stenosis, or patent ductus arteriosis).
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
Saito-Kuba-Tsuruta syndrome
Fibulo-ulnar hypoplasia-renal anomalies syndrome is characterized by fibuloulnar dysostosis with renal anomalies. It has been described in two sibs born to nonconsanguinous parents. The syndrome is lethal at birth (respiratory failure). Clinical manifestations include ear and facial anomalies (including micrognathia), symmetrical shortness of long bones, fibular agenesis and hypoplastic ulna, oligosyndactyly, congenital heart defects, and cystic or hypoplastic kidney. It is transmitted as an autosomal recessive trait.
Fibulo-ulnar hypoplasia-renal anomalies syndrome
Lysosomal disease with epilepsy
Peroxisomal disease with epilepsy
Amino acid or protein metabolism disease with epilepsy
Metal transport or utilization disorder with epilepsy
Energy metabolism disorder with epilepsy
Primary pulmonary hypoplasia is a rare, isolated, genetic developmental defect during embryogenesis characterized by congenital malformation of pulmonary parenchyma with absence of other anomalies. Neonatally patients present with decreased breath sounds, small lung volume and severe respiratory distress that is not responsive to aggressive treatment (including surfactant instillation/ mechanical respiratory support). It is usually not compatible with life.
Primary pulmonary hypoplasia
Mitochondrial disease with epilepsy
Mitochondrial disease with peripheral neuropathy
Metabolic neurotransmission anomaly with epilepsy
Sterol metabolism disorder with epilepsy
Other metabolic disease with epilepsy
use http://www.orpha.net/ORDO/Orphanet_3318 with label: Essential thrombocythemia
OBSOLETE: Inherited predisposition to essential thrombocythemia
Hyperphenylalaninemia due to dihydropteridine reductase deficiency
PKU type 2
Phenylketonuria type 2
Dihydropteridine reductase (DHPR) deficiency is a severe form of hyperphenylalaninemia (HPA) due to impaired regeneration of tetrahydrobiopterin (BH4) (see this term), leading to decreased levels of neurotransmitters (dopamine, serotonin) and folate in cerebrospinal fluid, and causing neurological symptoms such as psychomotor delay, hypotonia, seizures, abnormal movements, hypersalivation, and swallowing difficulties.
Dihydropteridine reductase deficiency
Oligomeganephronic renal hypoplasia
Oligomeganephronia is a developmental anomaly of the kidneys, and the most severe form of renal hypoplasia (see this term), characterized by a reduction of 80% in nephron number and a marked hypertrophy of the glomeruli and tubules.
Oligomeganephronia
CFEOM3
CFEOM3A
beta-4
class III beta-tubulin
tubulin beta 3 class III
phosphodiesterase 8B
CD326
CO-17A
EGP-2
EGP34
EGP40
ESA
Ep-CAM
HEA125
KS1/4
KSA
Ly74
MH99
MK-1
MOC31
TACST-1
TROP1
epithelial cell adhesion molecule
MRX96
synaptophysin
CLC2
ClC-2
EJM6
chloride voltage-gated channel 2
Eu-HMTase1
KIAA1876
KMT1D
euchromatic histone lysine methyltransferase 1
D4ST-1
HD4ST
carbohydrate sulfotransferase 14
Goldblatt-Wallis syndrome
Hypospasdias  intellectual deficit, Goldblatt type is a very rare multiple congenital anomalies syndrome described in three brothers of one South-African family, and characterized by hypospadias and intellectual deficit, in association with mirocephaly, craniofacial dysmorphism, joint laxity and beaked nails.
Hypospadias-intellectual disability, Goldblatt type syndrome
CD3H
CD3Q
T-cell surface glycoprotein CD3 zeta chain
CD247 molecule
Permanent congenital hypothyroidism is a type of congenital hypothyroidism (CH; see this term), a thyroid hormone deficiency present from birth.
Permanent congenital hypothyroidism
Primary congenital hypothyroidism is a type of permanent congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth.
Primary congenital hypothyroidism
Secondary hypothyroidism
Central or secondary congenital hypothyroidism is a type of permanent congenital hypothyroidism (see this term) characterized by permanent thyroid hormone deficiency that is present from birth and secondary to a disorder in the thyroid-stimulating hormone (TSH) - thyrotropin-releasing hormone (TRH) system.
Central congenital hypothyroidism
Hypothyroidism due to mutations in transcription factors involved in pituitary development or function is a type of central congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones caused by disorders in the development or function of the pituitary.
Hypothyroidism due to deficient transcription factors involved in pituitary development or function
Peripheral hypothyroidism is a type of permanent congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth, that results from peripheral defects in thyroid hormone metabolism.
Peripheral hypothyroidism
Congenital hypothyroidism due to maternal intake of antithyroid drugs is a rare congenital hypothyroidism disorder characterized by transient, primary, fetal or neonatal hypothyroidism resulting from transplacental transfer of antithyroid drugs due to maternal intake. Patients may present fetal or neonatal goiter, hoarse cry, reduced tendon reflexes, feeding difficulty, constipation, prolonged jaundice and/or respiratory distress. Elevated levels of T4 and thyroid stimulating hormone usually normalize without treatment within 3 weeks of birth.
Congenital hypothyroidism due to maternal intake of antithyroid drugs
Genetic transient congenital hypothyroidism is a rare, thyroid disease characterized by a gene mutation induced, temporary deficiency of thyroid hormones at birth, which later reverts to normal with or without replacement therapy in the first few months or years of life.
Genetic transient congenital hypothyroidism
Lopes-Marques de Faria syndrome
Hypotrichosis-intellectual disability, Lopes type is characterised by hypotrichosis, syndactyly, intellectual deficit and early eruption of teeth. It has been described in two patients. The mode of transmission appears to be autosomal recessive.
Hypotrichosis-intellectual disability, Lopes type
OBSOLETE: Ichthyosis-cheek-eyebrow syndrome
Immunodeficiency-centromeric instability-facial anomalies syndrome
The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9.
ICF syndrome
Jagell-Holmgren-Hofer syndrome
Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome is an ectodermal dysplasia syndrome characterized by severe generalized lamellar icthyosis at birth with alopecia, eclabium, ectropion and intellectual disability. Although similar to Sjögren-Larsson syndrome, this syndrome lacks the presence of neurologic or macular changes. There have been no further descriptions in the literature since 1987.
Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome
Diphallia
Hypothetical protein LOC113278
RFVT3
hRFT2
solute carrier family 52 member 3
MFSD7C
feline leukemia virus subgroup C cellular receptor family member 2
HHM
PLP
PTHR
PTHRP
osteostatin
parathyroid hormone-like hormone preproprotein
parathyroid hormone-related protein preproprotein
parathyroid hormone like hormone
taperin
myosin binding protein C, slow type
transmembrane protein 127
APP3
ICP55
Intermediate Cleaving Peptidase 55
NPHPL1
X-prolyl aminopeptidase 3
CGL4
cavin-1
congenital generalized lipodystrophy 4
caveolae associated protein 1
SPE-39
SPE39
VIPAR
VPS16B
VPS33B interacting protein, apical-basolateral polarity regulator
hSPE-39
VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
HSP47
collagen binding protein 1
colligen
serpin family H member 1
Congenital ichthyosis-microcephalus-quadriplegia syndrome
Congenital ichthyosis-microcephalus-tetraplegia syndrome
Hunc18b
UNC18B
syntaxin binding protein 2
Clayton Smith-Donnai syndrome
Ichthyosis-oral and digital anomalies syndrome is characterised by ichthyosis, unusual facies (small mouth with a thin upper lip and lower lip with a midline groove) and digital anomalies (tapered fingers with a lack of distal flexion creases and wide spacing between the second and third fingers). It has been described in two sibs born to first cousin parents. Transmission appears to be autosomal recessive.
Ichthyosis-oral and digital anomalies syndrome
IFAP syndrome
Ichthyosis follicularis-atrichia-photophobia syndrome
Ichthyosis follicularis - alopecia - photophobia (IFAP) is a rare genetic disorder characterized by the triad of ichthyosis follicularis, alopecia, and photophobia from birth.
Ichthyosis follicularis-alopecia-photophobia syndrome
BLK proto-oncogene, Src family tyrosine kinase
HSPL27
heat shock protein family B (small) member 3
NAPI-3
NPTIIa
Na+-phosphate cotransporter type II
SLC11
sodium/phosphate co-transporter
solute carrier family 17 (sodium phosphate), member 2
solute carrier family 34 member 1
phosphatidylinositol phosphatase PTPRQ
protein tyrosine phosphatase, receptor type Q
Dykes-Marks-Harper syndrome
Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome is characterised by ichthyosis, hepatosplenomegaly and late-onset cerebellar ataxia. It has been described in two brothers. Transmission is either autosomal recessive or X-linked.
Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome
HRG4
POC7
POC7 centriolar protein homolog A (Chlamydomonas)
POC7A
unc-119 lipid binding chaperone
MSA, cerebellar type
MSA-c
Sporadic OPCA type 1
Sporadic olivopontocerebellar atrophy type 1
Multiple system atrophy, cerebellar type (MSA-c) is a form of multiple system atrophy (MSA; see this term) with predominant cerebellar features (gait and limb ataxia, oculomotor dysfunction, and dysarthria).
Multiple system atrophy, cerebellar type
Familial breast cancer
Familial breast carcinoma
Hereditary breast carcinoma
Hereditary breast cancer
use http://www.orpha.net/ORDO/Orphanet_71862 with label: Inherited retinal disorder
Fundus albipunctatus is a rare, genetic retinal dystrophy disorder characterized by the presence of numerous small, round, yellowish-white retinal lesions that are distributed throughout the retina but spare the fovea. Patients present in childhood with non-progressive night blindness with prolonged cone and rod adaptation times. The macula may or may not be involved, which may result in a decrease of central visual acuity with age.
Fundus albipunctatus
Passwell-Goodman-Siprkowski syndrome
Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome is characterised by nonbullous congenital ichthyosis, intellectual deficit, dwarfism and renal impairment. It has been described in four members of one Iranian family. Transmission is autosomal recessive.
Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome
Toxic oil syndrome is a rare intoxication, due to consumption of a rapeseed oil denatured with aniline 2%, characterized by generalized vascular lesions affecting all organs and vessels (including veins and arteries) and presenting with severe incapacitating myalgias, marked peripheral eosinophilia and pulmonary infiltrates.
Toxic oil syndrome
Autosomal recessive optic atrophy, OPA7 type
APS type 3
APS3
Autoimmune polyendocrine syndrome type 3
Autoimmune polyglandular syndrome type 3
Autoimmune polyendocrinopathy type 3 is a rare, endocrine disease characterized by autoimmune thyroid disease associated with at least one other autoimmune disease, such as type I diabetes mellitus, chronic atrophic gastritis, pernicious anemia, vitiligo, alopecia, or myasthenia gravis, but excluding Addison disease.
Autoimmune polyendocrinopathy type 3
APS type 4
APS4
Autoimmune polyendocrine syndrome type 4
Autoimmune polyglandular syndrome type 4
Autoimmune polyendocrinopathy type 4
Idiopathic CD4 lymphocytopenia is a rare primary immunodeficiency disorder characterized by persistent CD4 T-cell lymphopenia (less than 300 cells/µL on multiple occasions) not associated with any other underlying primary or secondary immune deficiency. Patients typically present opportunistic infections (with cryptococcal, mycobacterial, candidal, varicella zoster virus infections and progressive multifocal leukoencephalopathy being the most prevalent), malignancies (mainly lymphoproliferative disorders), or autoimmune disorders. Some individuals are asymptomatic and incidentally diagnosed.
Idiopathic CD4 lymphocytopenia
SCID due to CORO1A deficiency
SCID due to coronin-1A deficiency
Severe combined immunodeficiency due to coronin-1A deficiency
Severe combined immunodeficiency due to CORO1A deficiency
Progressive neurosensory deafness-hypertrophic cardiomyopathy syndrome
Progressive neurosensory hearing loss-hypertrophic cardiomyopathy syndrome
Progressive sensorineural deafness-hypertrophic cardiomyopathy syndrome
Progressive sensorineural hearing loss - hypertrophic cardiomyopathy is an extremely rare disorder described in one family to date that is characterized by progressive, late onset, autosomal dominant sensorineural hearing loss, QT interval prolongation, and mild cardiac hypertrophy.
Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome
Hughes-Stovin syndrome (HSS) is a life-threatening disorder, believed to be a cardiovascular clinical variant manifestation of Behçet's disease (BD; see this term). It is characterized by the association of multiple pulmonary artery aneurysms (PAAs) and peripheral venous thrombosis.
Hughes-Stovin syndrome
Fusarium infection
, often found in soil and water, which is mainly transmitted to humans through traumatic inoculation and that manifests with keratitis, onychomycosis and less frequently peritonitis and cellulitis. In the immunocompromised, disseminated fusariosis is more common and it manifests with refractory fever, skin lesions (ecthyma-like, target, and multiple subcutaneous nodules), severe myalgias and sino-pulmonary infections.
Fusariosis
California disease
Coccidioides infection
Desert fever
Desert rheumatism
San Joaquin valley fever
Valley fever
, which is endemic to the Southwestern United States, Central America, South America and Mexico, and is acquired by inhalation of the infective arthroconidia, often found in soil. In most cases it is a benign, self-limiting febrile illness, but in a minority of cases it can become a potentially lethal infection of the lungs and, extremely rarely, spread to other organs (through hematogenous dissemination) with manifestations including meningitis, osteomyelitis, and skin and soft-tissue involvement.
Coccidioidomycosis
Familial paroxysmal ventricular fibrillation, non Brugada type
Idiopathic ventricular fibrillation, non Brugada type
Multiple sclerosis variant
Acute multiple sclerosis, Marburg type
Acute multiple sclerosis, Marburg variant
Marburg acute multiple sclerosis is a rare variant of multiple sclerosis characterized by a rapidly progressive, aggressive form of multiple sclerosis with numerous large multifocal demyelinating lesions in deep white matter on cerebral MRI that usually leads to severe disability or death within weeks to months without remission. A relapsing form of multiple sclerosis is observed in surviving patients.
Marburg acute multiple sclerosis
Concentric demyelination
Baló concentric sclerosis
ADSD
Autosomal dominant striatal degeneration (ADSD) is an adult-onset movement disorder characterized by bradykinesia, dysarthria and muscle rigidity.
Autosomal dominant striatal neurodegeneration
CMT2N
Autosomal dominant Charcot-Marie-Tooth disease type 2N (CMT2N) is a mild form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal legs sensory loss and weakness that can be asymmetric. Tendon reflexes are reduced in the knees and absent in ankles. Progression is slow.
Autosomal dominant Charcot-Marie-Tooth disease type 2N
Autosomal dominant Charcot-Marie-Tooth disease type 2M (CMT2M) is a form of axonal Charcot-Marie-Tooth disease, a peripheral motor and sensory neuropathy. CMT2M is characterized by congenital pstosis and early cataract associated to a mildly progressive peripheral neuropathy of variable onset from birth to the 6th decade, pes cavus, reduced to absent ankles tendon reflexes and sometimes neutropenia.
Autosomal dominant Charcot-Marie-Tooth disease type 2M
Atriodigital dysplasia
Heart-hand syndrome refers to a group of congenital disorders characterized by malformations of the upper limbs and heart. To date, heart-hand syndrome comprises the following rare syndromes; Holt-Oram syndrome; heart-hand syndrome type 2; heart-hand syndrome type 3; heart hand syndrome, Slovenian type, brachydactyly-long thumb; and patent ductus arteriosus-bicuspid aortic valve - hand anomalies (see these terms).
Heart-hand syndrome
Patent arterial duct-bicuspid aortic valve-hand anomalies syndrome
Patent ductus arteriosus - bicuspid aortic valve - hand anomalies syndrome is a very rare heart-hand syndrome (see this term) that is characterized by a variety of cardiovascular anomalies including patent arterial duct, bicuspid aortic valve and pseudocoarctation of the aorta in conjunction with hand anomalies such as brachydactyly and ulnar ray derivative i.e. fifth metacarpal hypoplasia. Transmission is most likely autosomal dominant.
Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome
Ieshima-Koeda-Inagaki syndrome
Dysmorphism-short stature-deafness-disorder of sex development syndrome is characterized by dysmorphism (including facial asymmetry, arched eyebrows, hypertelorism, broad and flat nasal bridge, microtia, small nose with anteverted nostrils, micrognathia), deafness, cleft palate, male pseudohermaphroditism, and growth and psychomotor retardation. It has been described in two siblings. It is transmitted as an autosomal recessive trait.
Dysmorphism-short stature-deafness-disorder of sex development syndrome
Genetic dermis elastic tissue disorder
Acquired dermis elastic tissue disorder
Acquired dermis elastic tissue disorder with decreased elastic tissue
Acquired dermis elastic tissue disorder with increased elastic tissue
PXE-like late-onset focal dermal elastosis
Pseudoxanthoma-like late-onset focal dermal elastosis
Late-onset focal dermal elastosis is a rare, acquired, dermis elastic tissue disorder characterized by a pseudoxanthoma elasticum-like papular eruption consisting of multiple, slowly progressive, asymptomatic, 2-5 mm, white to yellowish, non-follicular papules (that tend to form cobblestone plaques) predominantly distributed over the neck, axillae and flexural areas, with no systemic involvement. Skin biopsy reveals a focal increase of normal-appearing elastic tissue in the reticular dermis with no calcium deposits.
Late-onset focal dermal elastosis
Elastotic striae
Linear focal dermal elastosis
Linear focal elastosis is a rare, acquired, dermis elastic tissue disorder characterized by asymptomatic, palpable, hypertrophic or atrophic, yellowish or red, indurated, horizontal, striae-like linear plaques distributed symmetrically across the mid and lower back. No systemic involvement has been described. Skin biopsy reveals a focal increase in abnormal elastic tissue with abundant, wavy, fragmented and aggregated, basophilic elastic fibers in the reticular dermis.
Linear focal elastosis
Elastoderma
Elastofibroma dorsi is a rare, acquired, dermis elastic tissue disorder characterized by a benign, slowly progressive, often bilateral, non-encapsulated lesion, usually presenting as an ill-defined mass under the inferior angle of the scapula (but other locations have been reported), which adheres to the deep layers and presents no local signs of inflammation. It is commonly asymptomatic and discovered inadvertently, but symptoms may include pain and discomfort or stiffness when using the shoulder. The presence of a firm mass masked by the scapula during retropulsion of the shoulder and becoming prominent when the shoulder is displaced toward the front is a frequent sign. Neuromuscular involvement of the upper limb may occur in rare cases.
Elastofibroma dorsi
Acquired Gronblad-Strandberg-Touraine syndrome
Acquired PXE
Acquired pseudoxanthoma elasticum
Juvenile elastoma without osteopoikilosis
Nevus elasticus
Weidman juvenile elastoma
Elastoma
Disseminated nevus anelasticus
Eruptive collagenoma
Nevus anelasticus
Papular elastorrhexis
Primary macular atrophy
Primary anetoderma is a rare skin disease characterized by loss of elastin tissue resulting in localized areas of flaccid skin in the absence of a secondary cause.
Primary anetoderma
Hereditary anetoderma
Hereditary macular atrophy
Familial anetoderma is an extremely rare genetic skin disease characterized by loss of elastin tissue leading to localized areas of flaccid skin and a family history of the disorder.
Familial anetoderma
Cutis laxa acquisita
Acquired cutis laxa
White fibrous papulosis of the neck is a rare, acquired, dermal elastic tissue disorder characterized by multiple, 2-3 mm sized, non-confluent, asymptomatic, white or pale-colored, non-follicular, firm papular lesions occurring predominantly on the lateral or posterior aspects of the neck. Other, rarely reported sites include inferior axillae, central mid-back and upper sternal region.
White fibrous papulosis of the neck
PXE-like papillary dermal elastolysis
Pseudoxanthoma elasticum-like papillary dermal elastolysis (PXE-PDE) is a rare, acquired, idiopathic dermal tissue disorder characterized by numerous, asymptomatic, 2-3 mm, yellowish, non-follicular papules that tend to converge into cobblestone-like plaques which are distributed symmetrically over the posterior neck, supraclavicular region, axillae, and sometimes abdomen. Unlike PXE, these skin lesions show select elimination (absence or marked loss) of elastic fibers in the papillary dermis and there is no systemic involvement.
Pseudoxanthoma elasticum-like papillary dermal elastolysis
Mid-dermal elastolysis
CPT2, adult-onset form
CPT2, myopathic form
CPTII, adult-onset form
CPTII, myopathic form
Carnitine palmitoyl transferase II deficiency, adult-onset form
Carnitine palmitoyl transferase deficiency type 2, adult-onset form
Carnitine palmitoyl transferase deficiency type 2, myopathic form
The myopathic form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the most common and the least severe form of CPT II deficiency (see this term).
Carnitine palmitoyl transferase II deficiency, myopathic form
CPT2, hepatocardiomuscular form
CPT2, severe infantile form
CPTII, hepatocardiomuscular form
CPTII, severe infantile form
Carnitine palmitoyl transferase II deficiency, hepatocardiomuscular form
Carnitine palmitoyl transferase deficiency type 2, hepatocardiomuscular form
Carnitine palmitoyl transferase deficiency type 2, severe infantile form
The severe infantile form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the early-onset form of the disease.
Carnitine palmitoyl transferase II deficiency, severe infantile form
CPT2, lethal systemic form
CPT2, neonatal form
CPTII, lethal systemic form
CPTII, neonatal form
Carnitine palmitoyl transferase II deficiency, lethal systemic form
Carnitine palmitoyl transferase deficiency type 2, lethal systemic form
Carnitine palmitoyl transferase deficiency type 2, neonatal form
The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem failure.
Carnitine palmitoyl transferase II deficiency, neonatal form
Cold AIHA
cAHA
cAIHA
Cold autoimmune hemolytic anemia comprises two types of autoimmune hemolytic anemia (AIHA; see this term) defined by the presence of cold autoantibodies (autoantibodies which are active at temperatures below 30°C): cold agglutinin disease (CAD), which is the more common, and paroxysmal cold hemoglobinuria (PCH; see these terms).
Autoimmune hemolytic anemia, cold type
Idiopathic hypersomnia with long sleep time
Idiopathic hypersomnia without long sleep time
CLN1 disease
Cathepsin D deficiency
CLN10 disease
CLN4A disease
CLN4B disease
CLN3 disease
CLN2 disease
CLN8 disease
CLN9 disease
CLN5 disease
CLN6 disease
CLN7 disease
Intoxication botulism
Foodborne botulism is the most common form of botulism (see this term), a rare acquired neuromuscular junction disease with descending flaccid paralysis due to botulinum neurotoxins (BoNTs). It is caused by consumption of contaminated food containing BoNTs.
Foodborne botulism
AR-CMT2B5
Autosomal recessive Charcot-Marie-Tooth disease type 2B5
SEOAN due to NEFL deficiency
Severe early-onset axonal neuropathy due to NEFL deficiency
Severe early-onset axonal neuropathy due to light neurofilament subunit deficiency
Charcot-Marie-Tooth disease type 2B5 is a rare axonal hereditary motor and sensory neuropathy characterized by infantile onset of slowly progressive distal motor weakness and atrophy (more severe in legs and moderate in arms) with mildly delayed motor development, hypotonia, and distal sensory impairment of all sensory modalities.
Charcot-Marie-Tooth disease type 2B5
Cyclosporine-induced folliculodystrophy
Pilomatrix dysplasia
Trichodysplasia spinulosa
VATS
Virus-associated trichodysplasia spinulosa is a rare infectious skin disease characterized by the development of follicular papules with keratin spicules in various parts of the body, predominantly in the face (e.g. nose, eyebrows, auricles), that is due to polyomavirus infection in immunocompromized patients.
Virus-associated trichodysplasia spinulosa
Monosomy 5q14.3
The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy.
5q14.3 microdeletion syndrome
Spondylo-megaepiphyseal-metaphyseal dysplasia is a rare, genetic primary bone displasia characterized by disproportionate short stature with short, stiff neck and trunk and relatively long limbs, fingers and toes (which may present flexion contractures), severe vertebral body ossification delay (with frequent kyknodysostosis), markedly enlarged round epiphyses of the long bones, absent ossification of pubic bones and multiple pseudoepiphyses of the short tubular bones in hands and feet. Neurological manifestations resulting from cervical spine instability may be observed.
Spondylo-megaepiphyseal-metaphyseal dysplasia
ALX4-related FNDAG
Craniofrontonasal dysplasia with alopecia and hypogonadism
Frontonasal dysplasia type 2
Frontonasal dysplasia with alopecia and genital abnomality
Frontonasal dysplasia with alopecia and genital anomaly is a new phenotype of frontonasal dysplasia associated with total alopecia and hypogonadism.
Frontonasal dysplasia-alopecia-genital anomalies syndrome
Ptosis - upper ocular movement limitation - absence of lacrimal punctum is a recently described association of absence of the lower lid lacrimal punctum, bilateral ptosis, elevation deficiency of both eyes and mild facial dysmorphism.
Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome
Dup(8)(q12)
Trisomy 8q12
The newly described 8q12 microduplication syndrome is associated with unusual and characteristic multi-organ clinical features, which include hearing loss, congenital heart defects, intellectual disability, hypotonia in infancy, and Duane anomaly (see this term).
8q12 microduplication syndrome
use http://www.orpha.net/ORDO/Orphanet_179006 with label: Primary immunodeficiency due to a defect in adaptive immunity
OBSOLETE: Primary T cell immunodeficiency
Monosomy 2q23.1
Pseudo-Angelman syndrome
The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures.
2q23.1 microdeletion syndrome
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_1394 with label: Cerebrofaciothoracic dysplasia
Craniofacial dysmorphism-skeletal anomalies-intellectual disability syndrome
PHD syndrome
Polyvalvular heart disease syndrome is a recently described syndrome characterized by the combination of polyvalvular heart disease, short stature, facial anomalies and intellectual deficit.
Polyvalvular heart disease syndrome
Dup(5)(q35)
Trisomy 5q35
The newly described 5q35 microduplication syndrome is associated with microcephaly, short stature, developmental delay and delayed bone maturation.
5q35 microduplication syndrome
use http://www.orpha.net/ORDO/Orphanet_1934 with label: Early infantile epileptic encephalopathy
OBSOLETE: Microcephaly-seizures-developmental delay syndrome
Combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infections
Dendritic cell, monocyte, B and NK lymphoid deficiency
MonoMAC
Monocyte-B-natural killer-dendritic cell deficiency syndrome
Monocytopenia and mycobacterial infection syndrome
Monocytopenia with susceptibility to infections is a rare, genetic, primary immunodeficiency disorder characterized by profound circulating monocytopenia, B- and NK-cell lymphopenia and severe dentritic cell decrease, which manifests clinically with disseminated mycobacterial and viral infections, as well as opportunistic fungal and parasitic infections and frequent pulmonary alveolar proteinosis. Predisposition to developping myeloid neoplasms is associated.
Monocytopenia with susceptibility to infections
Syndromic multisystem autoimmune disease due to Itch deficiency is a rare, genetic, systemic autoimmune disease characterized by failure to thrive, global developmental delay, distictive craniofacial dysmorphism (relative macrocephaly, dolichocephaly, frontal bossing, orbital proptosis, flattened midface with a prominent occiput, low, posteriorly rotated ears, micrognatia), hepato- and/or splenomegaly, and multisystemic autoimmune disease involving the lungs, liver, gut and/or thyroid gland.
Syndromic multisystem autoimmune disease due to Itch deficiency
Generalized congenital lipodystrophy with myopathy
Bull-Nixon syndrome
Primary basilar impression (PBI) is a very rare skeletal developmental defect characterized by congenital upward translocation of the upper cervical spine and clivus into the foramen magnum. PBI can be asymptomatic or associated with severe neurological dysfunction.
Primary basilar invagination
Single upper central incisor
from about the 35th-38th day after conception.
Solitary median maxillary central incisor syndrome
Fused manidbular incisors is an extremely rare dental anomaly that is characterized by the union of two, normally separated, incisor tooth germs of the primary dentition. It is frequently associated with hypodontia (see this term) and an increased risk of pulp exposure.
Fused mandibular incisors
Neuronal intranuclear inclusion disease (NIID) is a very rare multisystem neurodegenerative disorder characterized by the presence of eosinophilic intranuclear inclusions in neuronal and glial cells, and neuronal loss.
Neuronal intranuclear inclusion disease
Annuloaortic ectasia
Cystic medial necrosis of aorta
Familial aortic dissection is the term used to describe rupture of the aortic wall at the level of the media, resulting in the formation of a false channel and deviation of part of the aortic flux. Familial predisposition to thoracic aortic aneurysms and type A dissections (concerning the ascending aorta and/or the aortic arch) has been demonstrated in around 19% of patients presenting with thoracic aortic dissections and several loci have been identified so far (16p12.2-p13.13, 3p24-25). This predisposition is transmitted in an autosomal dominant manner.
Familial aortic dissection
Congenital microvillous atrophy
Congenital microvillus atrophy
MVID
Microvillous inclusion disease
Microvillus inclusion disease (MVID) is a very rare and severe intestinal disease characterized by intractable neonatal secretory diarrhea persisting at bowel rest and specific histological features of the intestinal epithelium.
Microvillus inclusion disease
Congenital velopharyngeal incompetence
Long bone bowing is a congenital condition described by the presence of symmetric or asymmetric angular deformity and shortening of the long bones, particularly the femurs, tibiae and ulnae.
Congenital bowing of long bones
Familial joint instability syndrome
Familial joint laxity
Joint instability syndrome
Ehlers-Danlos syndrome, type 11, is characterised by generalized joint hypermobility often complicated by dislocation of major joints, particularly the shoulder but in some cases the kneecap. Congenital hip dislocation has also been frequently reported. The syndrome has been described in several families. It is transmitted as an autosomal dominant trait, with high penetrance.
Familial articular hypermobility syndrome
Type A insulin-resistance syndrome belongs to the group of extreme insulin-resistance syndromes (which includes leprechaunism, the lipodystrophies, Rabson-Mendenhall syndrome and type B insulin resistance syndrome; see these terms) and is characterized by the triad of hyperinsulinemia, acanthosis nigricans (skin lesions associated with insulin resistance), and signs of hyperandrogenism in females without lipodystrophy and who are not overweight.
Insulin-resistance syndrome type A
Isolated hypogammaglobulinemia
Isolated agammaglobulinemia (IA) is the non-syndromic form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by deficient gamma globulins and associated predisposition to frequent and recurrent infections from infancy.
Isolated agammaglobulinemia
Syndromic agammaglobulinemia
FANCO
RAD51L2
RAD51 paralog C
PNK
polynucleotide kinase 3'-phosphatase
K6IRS4
KRT5C
KRT6IRS4
keratin 74
APC down-regulated 1
Type B insulin-resistance syndrome belongs to the group of extreme insulin-resistance syndromes (which includes leprechaunism, the lipodystrophies, Rabson-Mendenhall syndrome, and type A insulin resistance syndrome; see these terms) and occurs in the context of immune dysfunction.
Insulin-resistance syndrome type B
Aortic arch interruption is a rare heart defect characterized by complete lack of anatomical continuity between the transverse aortic arch and the descending thoracic aorta. AAI should be distinguished anatomically from atresia of the aortic arch where continuity between these segments is achieved by an imperforate fibrous strand of various lengths.
Aortic arch interruption
ASA deficiency
ASL deficiency
Argininosuccinase deficiency
Argininosuccinatelyase deficiency
Argininosuccinic acid lyase deficiency
Argininosuccinic aciduria (ASA) is a disorder of urea cycle metabolism most commonly characterized by either a severe, neonatal-onset form that manifests with hyperammonemia accompanied with vomiting, hypothermia, lethargy and poor feeding in the first few days of life, or late-onset forms (any age outside the newborn period) that manifest with stress or infection-induced episodic hyperammonemia or, in some, behavioral abnormalities and/or learning disabilities. Patients often manifest liver dysfunction.
Argininosuccinic aciduria
Noradrenaline deficiency
Norepinephrine deficiency
Dopamine beta-hydroxylase deficiency is an extremely rare genetic metabolic disorder characterized by autonomic dysregulation leading mainly to orthostatic hypotension.
Dopamine beta-hydroxylase deficiency
Familial intestinal polyatresia syndrome
Multiple intestinal atresia is a rare form of intestinal atresia characterized by the presence of numerous atresic segments in the small bowel (duodenum) or large bowel and leading to symptoms of intestinal obstruction: vomiting, abdominal bloating and inability to pass meconium in newborns.
Multiple intestinal atresia
Congenital short bowel syndrome is a rare intestinal disorder of neonates of unknown etiology. Patients are born with a short small bowel (less than 75 cm in length) that compromises proper intestinal absorption and leads chronic diarrhea, vomiting and failure to thrive.
Congenital short bowel syndrome
Asbestosis
Asbestos intoxication is a pneumoconiosis (see this term) caused by exposure to asbestos particles. Symptoms may appear many years after exposure and include progressive dyspnea on exertion, dry cough, chest pain, tightness, inspiratory crackles, clubbing of the fingers. Later complications include mesothelioma and lung cancers (see these terms).
Asbestos intoxication
Isotretinoin embryopathy
Retinoic acid embryopathy
Retinoids embryopathy
Isotretinoin embryopathy is an association of malformations caused by the teratogenic effect of isotretinoin, an oral synthetic vitamin A derivative, which is used to treat severe recalcitrant cystic acne. Exposure to isotretinoin during the first trimester of pregnancy has been associated with an increased risk of spontaneous abortions and severe birth defects including serious craniofacial (microcephaly, asymmetric crying facies, microphthalmia, developmental abnormalities of the external ear, ocular hypertelorism), cardio vascular (conotruncal heart defects, aortic arch abnormalities), and central nervous system (hydrocephalus, microcephaly, lissencephaly, Dandy-Walker malformation, cognitive deficit) anomalies and thymic aplasia. Isoretinoin is contraindicated during pregnancy.
Isotretinoin syndrome
Kawashima syndrome
Microtia-aortic arch syndrome
Isotretinoin-like syndrome is a phenocopy of the isotretinoin embryopathy.
Isotretinoin-like syndrome
Oculo-oto-radial syndrome
Radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia
IVIC syndrome is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss.
IVIC syndrome
Del(11)(qter)
Distal deletion 11q
Distal monosomy 11q
Monosomy 11qter
Telomeric deletion 11q
Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11.
Jacobsen syndrome
Toxin-mediated infective botulism
leading to toxin-mediated infection. Infectious botulism includes wound botulism and intestinal toxemia botulism (infant botulism and adult intestinal botulism; see these terms).
Toxin-mediated infectious botulism
EDS, classic-like type
Ehlers-Danlos syndrome, classic-like type
Ehlers-Danlos syndrome due to tenascin-X deficiency is a type of Ehlers-Danlos syndrome characterized by generalized joint hypermobility, skin hyperextensibility and easy bruising without atrophic scarring. Other common features include foot and hand deformities (piezogenic papules, pes planus, broad forefeet, brachydactyly, and acrogenic skin of hands), severe fatigue and neuromuscular symptoms including muscle weakness and myalgia.
Ehlers-Danlos syndrome due to tenascin-X deficiency
EDS, vascular-like type
Ehlers-Danlos, vascular-like type is an adult-onset form of Ehlers-Danlos syndrome characterized by spontaneous dissection of medium-sized arteries during young adulthood, including mainly the iliac, femoral, and renal arteries.
Ehlers-Danlos syndrome, vascular-like type
EDS, cardiac valvular type
Ehlers-Danlos syndrome, cardiac valvular type is a form of Ehlers-Danlos syndrome characterized by soft skin, skin hyperextensibility, easy bruisability, atrophic scar formation, joint hypermobility and cardiac valvular defects comprising mitral and/or aortic valve insufficiency.
Ehlers-Danlos syndrome, cardiac valvular type
EDS/OI syndrome
Ehlers-Danlos/osteogenesis imperfecta syndrome is an association of the features of Ehlers-Danlos syndrome and osteogenesis imperfecta, characterized by generalized joint hypermobility and dislocations, skin hyperextensibility and/or translucency, and easy bruising as the predominant clinical features, while being invariably associated with mild signs of osteogenesis imperfecta, including short stature, blue sclera, and osteopenia or fractures.
Ehlers-Danlos/osteogenesis imperfecta syndrome
Pachyonychia congenita (PC) is a rare genodermatosis predominantly featuring painful palmoplantar keratoderma, thickened nails, cysts and whitish oral mucosa.
Pachyonychia congenita
Dracunculosis
Guinea worm disease
Medina worm disease
Medinensis
, microcrustacea also called water fleas).
Dracunculiasis
Absence deformity of leg  cataract is a very rare syndromic limb malformation described in two distantly related boys. It is characterized by absence deformity of the left leg, progressive scoliosis, short stature, congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been observed.
Absence deformity of leg-cataract syndrome
Congenital trigeminal anesthesia is a rare neuro-ophtalmological disorder characterized by a congenital sensory deficit involving all or some of the sensory components of the trigeminal nerve. Due to corneal anesthesia, it usually presents with recurrent, painless eye infections, painless corneal opacities and/or poorly healing, ulcerated wounds on the facial skin and mucosa (typically the buccal mucosa and/or nasal septum).
Congenital trigeminal anesthesia
Lane disease
Red palms disease
Erythema palmare hereditarium is a rare, benign, congenital genetic skin disorder characterized by permanent and asymptomatic erythema of the palmar and, less frequently, the solar surfaces. In most cases, it presents with sharply demarcated redness of the thenar and hypothenar eminences, as well as the palmar aspect of the phalanges, with scattered telangiectasia spots that do not cause any discomfort (pain, itching or burning) to the patient.
Erythema palmare hereditarium
Familial lentigines profusa
Familial multiple lentigines syndrome without systemic involvement
Familial generalized lentiginosis is a rare, inherited, skin hyperpigmentation disorder characterized by widespread lentigines without associated noncutaneous abnormalities. Patients present multiple brown to dark brown, non-elevated macula of 0.2 to 1 cm in diameter, spread over the entire body, sometimes including palms or soles, but never oral mucosa.
Familial generalized lentiginosis
Jarcho-Levin syndrome
Autosomal recessive spondylocostal dysostosis (ARSD) is a rare condition of variable severity associated with vertebral and rib segmentation defects and characterised by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine.
Autosomal recessive spondylocostal dysostosis
RTPS
Rhabdoid tumor predisposition syndrome
Familial rhabdoid tumor
DILE
Drug-induced lupus erythematosus
Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
Beckwith-Wiedemann syndrome due to CDKN1C mutation
Beckwith-Wiedemann syndrome due to 11p15 microdeletion
Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
Silver-Russell syndrome due to 7p11.2-p13 microduplication
Silver-Russell syndrome due to dup(7)(p11.2p13)
Silver-Russell syndrome due to trisomy 7p11.2-p13
Silver-Russell syndrome due to trisomy 7p11.2p13
Silver-Russell syndrome due to 7p11.2p13 microduplication
Silver-Russell syndrome due to an imprinting defect of 11p15
Silver-Russell syndrome due to 11p15 microduplication
UPD(11)mat
Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11
CID due to partial RAG1 deficiency
CID with expansion of gamma delta T cells
Combined immunodeficiency with expansion of gamma delta T cells
Combined immunodeficiency due to partial RAG1 deficiency is a form of combined T and B cell immunodeficiency (CID; see this term) characterized by severe and persistent cytomegalovirus (CMV) infection and autoimmune cytopenia.
Combined immunodeficiency due to partial RAG1 deficiency
Familial berry aneurysm
Familial intracranial saccular aneurysm
Familial cerebral saccular aneurysm
USH1
Usher syndrome type 1
USH2
Usher syndrome type 2
USH3
Usher syndrome type 3
Lucey-Driscoll syndrome
Transient familial neonatal hyperbilirubinemia
OBSOLETE: Common variable immunodeficiency without known genetic defect
Cooley anemia
Mediterranean anemia
Beta-thalassemia (BT) major is a severe early-onset form of BT (see this term) characterized by severe anemia requiring regular red blood cell transfusions.
Beta-thalassemia major
Beta-thalassemia (BT) intermedia is a form of BT (see this term) characterized by mild to moderate anemia which does not or only occasionally requires transfusion.
Beta-thalassemia intermedia
Inclusion body beta-thalassemia
Dominant beta-thalassemia is a form of beta-thalassemia (see this term) resulting in moderate to severe anemia.
Dominant beta-thalassemia
Beta-thalassemia associated with another Hb anomaly
Beta-thalassemias associated with hemoglobin (Hb) anomalies result in a variable clinical spectrum, ranging from asymptomatic to severe, depending on the severity of the thalassemia mutation and on the type of the Hb anomaly [hereditary persistence of fetal Hb, delta-beta-thalassemia, Hb C - beta-thalassemia, Hb E - beta-thalassemia and Hb S - beta-thalassemia (see these terms)].
Beta-thalassemia associated with another hemoglobin anomaly
Delta-beta-thalassemia is a form of beta-thalassemia (see this term) characterized by decreased or absent synthesis of the delta- and beta-globin chains with a compensatory increase in expression of fetal gamma-chain synthesis.
Delta-beta-thalassemia
C-beta-thalassemia
HbC-beta-thalassemia syndrome
Hemoglobin C - beta-thalassemia (HbC - BT) is a form of beta-thalassemia (see this term) resulting in moderate hemolytic anemia.
Hemoglobin C-beta-thalassemia syndrome
E-beta-thalassemia
HbE-beta-thalassemia syndrome
Hemoglobin E - beta-thalassemia (HbE - BT) is a form of beta-thalassemia (see this term) that results in a mild to severe clinical presentation ranging from a condition indistinguishable from beta-thalassemia major to a mild form of beta-thalassemia intermedia (see these terms).
Hemoglobin E-beta-thalassemia syndrome
Beta-thalassemia-trichothiodystrophy syndrome
Beta-thalassemias with other manifestations are a group of beta-thalassemias (see this term) associated with another disorder.
Beta-thalassemia with other manifestations
WNT-5A protein
hWNT5A
Wnt family member 5A
XLTT
Beta-thalassemia - X-linked thrombocytopenia is a form of beta-thalassemia (see this term) characterized by splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and mild beta-thalassemia.
Beta-thalassemia-X-linked thrombocytopenia syndrome
KIAA0437
SEB
SET binding protein 1
AD-HIES
Autosomal dominant HIES
Autosomal dominant hyperimmunoglobulin E syndrome
Buckley syndrome
Hyperimmunoglobulin E syndrome type 1
Hyperimmunoglobulin E-recurrent infection syndrome
Job syndrome
STAT3 deficiency
2000 IU/ml), recurring staphylococcal skin abscesses, and recurrent pneumonia with formation of pneumatoceles.
Autosomal dominant hyper-IgE syndrome
ATMDS
Acquired HbH disease
Acquired hemoglobin H disease
Alpha-thalassemia-myelodysplastic syndrome (ATMDS) is an acquired form of alpha-thalassemia (see this term) characterized by a myelodysplastic syndrome (MDS) or more rarely a myeloproliferative disease (MPD) associated with hemoglobin H disease (HbH; see these terms).
Alpha-thalassemia-myelodysplastic syndrome
Variant of GBS
Variant of Guillain-Barré syndrome
Regional variant of GBS
Regional variant of Guillain-Barré syndrome
Functional variant of GBS
Functional variant of Guillain-Barré syndrome
FREAC6
forkhead box I1
PCB variant of GBS
PCB variant of Guillain-Barré syndrome
Pharyngeal-cervical-brachial weakness
Pharyngo-cervico-brachial variant of GBS
Pharyngo-cervico-brachial variant of Guillain-Barré syndrome
Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome is a rare, acquired peripheral neuropathy disease characterized by rapidly progressive oropharyngeal (facial palsy, dysarthria) and cervicobrachial weakness, associated with upper limb weakness and hypo/areflexia, in the absence of ophthalmoplegia, ataxia, altered consciousness, and prominent lower limb weakness. The presence of monospecific IgG anti-GT1a antibodies is associated.
Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome
Paraparetic variant of GBS
Paraparetic variant of Guillain-Barré syndrome is a rare variant of Guillain-Barré syndrome characterized by isolated leg weakness, areflexia and radicular leg pain that may simulate a cauda equina or spinal cord syndrome. The arms, ocular, facial, and oropharyngeal muscles are spared, and sphincteric function is normal.
Paraparetic variant of Guillain-Barré syndrome
Acute pure sensory GBS
Acute pure sensory Guillain-Barré syndrome
Acute pure sensory neuropathy is a rare, acquired, demyelinating neuropathy disease characterized by acute, symmetric, monophasic sensory neuropathy without motor involvement, typically manifesting with numbness in the distal lower limbs which progressively extends to all the limb, tingling sensation in the distal lower limbs, generalized areflexia, and unsteady gait, as well as clumsiness of the upper limbs, pseudoathetosis and loss of vibration sense.
Acute pure sensory neuropathy
Acute panautonomic GBS
Acute panautonomic Guillain-Barré syndrome
Acute panautonomic neuropathy
Acute pandysautonomia is a rare variant of Guillain-Barré syndrome characterized by acute post-ganglionic sympathetic and parasympathetic failure presenting several weeks after acute infection with gastrointestinal symptoms (abdominal pain, vomiting, constipation, diarrhea, gastroparesis, ileus), orthostatic hypotension, erectile dysfunction, urinary frequency, urgency or retention, vasomotor instability with acrocyanosis and reduced salivation, lacrimation and sweating.
Acute pandysautonomia
ASAN
Acute sensory ataxic GBS
Acute sensory ataxic Guillain-Barré syndrome
Acute sensory ataxic neuropathy is a rare variant of Guillain-Barré syndrome characterized by acute onset monophasic sensory neuropathy with diminished or absent tendon reflexes, loss of proprioception, positive Romberg sign and nerve conduction features of demyelination. It presents several weeks after acute infection with paresthesias, ataxia and neuropathic pain.
Acute sensory ataxic neuropathy
BAFFR
CD268
TNF receptor superfamily member 13C
JBS
Johanson-Blizzard syndrome (JBS) is a multiple congenital anomaly characterized by exocrine pancreatic insufficiency, hypoplasia/aplasia of the nasal alae, hypodontia, sensorineural hearing loss, growth retardation, anal and urogenital malformations, and variable intellectual disability.
Johanson-Blizzard syndrome
HPS with pulmonary fibrosis
Hermansky-Pudlak syndrome with pulmonary fibrosis as a complication includes two types (HPS-1 and HPS-4) of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, pulmonary fibrosis or granulomatous colitis.
Hermansky-Pudlak syndrome with pulmonary fibrosis
HPS without pulmonary fibrosis
Hermansky-Pudlak syndrome without pulmonary fibrosis as a complication includes three relatively mild types (HPS-3, HPS-5 and HPS-6) of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by ocular or oculocutaneous albinism, bleeding diathesis and, in some cases, granulomatous colitis.
Hermansky-Pudlak syndrome without pulmonary fibrosis
GPI3
paroxysmal nocturnal hemoglobinuria
phosphatidylinositol N-acetylglucosaminyltransferase
phosphatidylinositol glycan anchor biosynthesis class A
Hermansky-Pudlak syndrome type 7
Hermansky-Pudlak syndrome type 8
Late-onset localized jonctional epidermolysis bullosa-intellectual disability syndrome is a rare junctional epidermolysis bullosa subtype characterized by late-onset blistering surrounded by erythema and localized on the anterior aspect of the lower legs, associated with dystrophic toenails, tooth enamel defects and mild to severe intellectual disability. Lens subluxation and mild facial dysmorphism (with short midface, prognatism and thin upper lip vermilion) are additional reported features. There have been no further descriptions in the literature since 1992.
Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome
Autosomal dominant dystrophic epidermolysis bullosa, Pasini and Cockayne-Touraine types
DDEB, Pasini and Cockayne-Touraine types
DDEB, generalized
DDEB-gen
Generalized dominant dystrophic epidermolysis bullosa (DDEB-gen) is a subtype of dystrophic epidermolysis bullosa (DEB, see this term), formerly known as DDEB, Pasini and Cockayne-Touraine types, characterized by generalized blistering, milia formation, atrophic scarring, and dystrophic nails.
Generalized dominant dystrophic epidermolysis bullosa
CEVD
Congenital erosive and vesicular dermatosis with reticulated supple scarring
Congenital erosive and vesicular dermatosis is a rare, idiopathic skin disease characterized by widespread, congenital, superficial erosions and vesicles (often involving more than 75% of the body) which heal leaving scars with a supple, symmetrical, reticulated pattern, frequently resulting in cicatricial alopecia and hyperthermia and/or hypohydrosis. Nail anomalies, neurodevelopmental and ophtalmologic abnormalities, tongue atrophy and preterm birth, with or without history of choriomnionitis, are commonly associated.
Congenital erosive and vesicular dermatosis
PUAH
Primary unilateral adrenal hyperplasia (PUAH) is a surgically-correctable form of primary (hyper) aldosteronism (PA; see this term) characterized by renin suppression, unilateral aldosterone hypersecretion, and moderate to severe hypertension secondary to hyperplasia of the adrenal gland.
Primary unilateral adrenal hyperplasia
Alopecia-anosmia-conductive hearing loss-hypogonadism syndrome
Alopecia-anosmia-deafness-hypogonadism syndrome
Johnson-McMillin syndrome
Johnson neuroectodermal syndrome is characterised by alopecia, anosmia or hyposmia, conductive deafness with malformed ears and microtia and/or atresia of the external auditory canal, and hypogonadotropic hypogonadism.
Johnson neuroectodermal syndrome
DAMOX
D-amino acid oxidase
Pure APAC
Pure aldosterone-producing adrenocortical carcinoma
Pure aldosterone-secreting adrenocortical carcinoma
Adrenocortical carcinoma with pure aldosterone hypersecretion (pure APAC) is a very rare surgically-correctable form of primary aldosteronism (PA; see this term) due to an aldosterone-secreting adrenal malignancy.
Adrenocortical carcinoma with pure aldosterone hypersecretion
Extra-adrenal aldosterone-producing tumor
Ectopic aldosterone-producing tumor is an extremely rare aldosterone-producing neoplasm composed of aberrant adrenocortical tissue located outside the adrenal glands (e.g. in retroperitoneum, perirenal or periaortic fatty tissue, thorax, spinal canal, testes, ovaries) typically characterized by symptoms related to increased aldosterone levels (such as sustained, treatment-resistant hypertension and hypokalemia) or symptoms caused by local tumor enlargement.
Ectopic aldosterone-producing tumor
Surgically correctable forms of primary aldosteronism (also known as primary hyperaldosteronism; see this term) are characterized by unilateral aldosterone hypersecretion and renin suppression, associated with varying degrees of hypertension and hypokalemia.
Rare surgically correctable form of primary aldosteronism
Rare non surgically correctable form of primary aldosteronism
Congenital IGHD type IA
Congenital isolated GH deficiency type IA
Congenital isolated growth hormone deficiency type IA
Isolated growth hormone deficiency type IA
Congenital IGHD type IB
Congenital isolated GH deficiency type IB
Congenital isolated growth hormone deficiency type IB
Isolated growth hormone deficiency type IB
Congenital IGHD type II
Congenital isolated GH deficiency type II
Congenital isolated growth hormone deficiency type II
Isolated growth hormone deficiency type II
Congenital IGHD type III
Congenital isolated GH deficiency type III
Congenital isolated growth hormone deficiency type III
X-linked IGHD
X-linked isolated growth hormone deficiency
Isolated growth hormone deficiency type III
Non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome
Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome is a rare, genetic, non-acquired, combined pituitary hormone deficiency disorder characterized by panhypopituitarism (with or without ACTH deficiency) associated with spine abnormalities, including frequent rigid cervical spine and short neck with limited rotation, and variable degrees of sensorineural hearing loss. The anterior pituitary gland is usually abnormal (typically hypoplastic) and rarely a mild developmental delay or intellectual disability may be associated.
Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome
MPPC syndrome
Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome is a rare developmental defect of the eye characterized by bilateral microcornea, posterior megalolenticonus, persistent fetal vasculature (extending from the posterior pole of the lens to the optic disc) and posterior chorioretinal coloboma.
Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome
Epibulbar lipodermoid  preauricular appendages  polythelia is a branchial arch syndrome described in seven sibs of one Danish family and characterized by supernumerary nipples (polythelia), preauricular appendages and often binocular epibulbar lipodermoids or unilateral subconjunctival lipodermoids.
Epibulbar lipodermoid-preauricular appendage-polythelia syndrome
Arima syndrome
CORS
Cerebellooculorenal syndrome
Dekaban-Arima syndrome
JS type B
JS-OR
Joubert syndrome with Senior-Loken syndrome
Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with both renal and ocular disease.
Joubert syndrome with oculorenal defect
Cleft lip/palate-abnormal thumbs-microcephaly syndrome
Orocraniodigital syndrome
Juberg-Hayward syndrome is a polymalformative syndrome that associates multiple skeletal anomalies with microcephaly, facial dysmorphism, urogenital anomalies and intellectual deficit.
Juberg-Hayward syndrome
Sickle cell disease
Sickle cell anemias are chronic hemolytic diseases that may induce three types of acute accidents: severe anemia, severe bacterial infections, and ischemic vasoocclusive accidents (VOA) caused by sickle-shaped red blood cells obstructing small blood vessels and capillaries. Many diverse complications can occur.
Sickle cell anemia
Infectious embryofetopathy
OPA7
transmembrane protein 126A
DPL1
DPPX
dipeptidyl peptidase like 6
AlaRS
alanine tRNA ligase 1, cytoplasmic
alanyl-tRNA synthetase
Kabuki make-up syndrome
Niikawa-Kuroki syndrome
Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency.
Kabuki syndrome
NKX3.2
NKX3B
NK3 homeobox 2
transmembrane and coiled-coil domains 1
myocyte enhancer factor 2C
AIP4
itchy E3 ubiquitin protein ligase
BRAG1
IQ-ArfGEF
KIAA0522
brefeldin A resistant Arf-guanine nucleotide exchange factor 1
IQ motif and Sec7 domain 2
This term refers to a group of diseases characterized by alpha-thalassemia and an associated disorder. Three conditions are included in this group: alpha thalassemia - X-linked intellectual deficit (or ATR-X syndrome), alpha-thalassemia-intellectual deficit syndrome (or ATR-16 syndrome) and alpha-thalassemia-myelodysplastic disease (or ATMDS; see these terms).*
Alpha-thalassemia-related diseases
HRD syndrome
Hypoparathyroidism-intellectual disability-dysmorphism syndrome
Hypoparathyroidism-short stature-intellectual disability-seizures syndrome
Richardson-Kirk syndrome
SSS
Sanjad-Sakati syndrome (SSS), also known as hypoparathyroidism - intellectual disability-dysmorphism, is a rare multiple congenital anomaly syndrome, mainly occurring in the Middle East and the Arabian Gulf countries, characterized by intrauterine growth restriction at birth, microcephaly, congenital hypoparathyroidism (that can cause hypocalcemic tetany or seizures in infancy), severe growth retardation, typical facial features (long narrow face, deep-set eyes, beaked nose, floppy and large ears, long philtrum, thin lips and micrognathia), and mild to moderate intellectual deficiency. Ocular findings (i.e. nanophthalmos, retinal vascular tortuosity and corneal opacification/clouding) and superior mesenteric artery syndrome have also been reported. Although SSS shares the same locus with the autosomal recessive form of Kenny-Caffey syndrome (see this term), the latter differs from SSS by its normal intelligence and skeletal features.
Sanjad-Sakati syndrome
Kaler-Garrity-Stern syndrome
Kaler-Garrity-Stern syndrome is a rare syndrome, described in two sisters of Mennonite descent, characterized by sparse hair, osteopenia, intellectual disability, minor facial abnormalities, joint laxity and hypotonia. There have been no further descriptions in the literature since 1992.
Osteopenia-intellectual disability-sparse hair syndrome
Gamborg-Nielsen syndrome
Kallin syndrome
Epidermolysis bullosa simplex with anodontia/hypodontia
Kallmann syndrome with cardiopathy is characterised by hypogonadotropic hypogonadism associated with gonadotropin-releasing hormone (GnRH) deficiency, anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs) and complex congenital cardiac malformations (double-outlet right ventricle, dilated cardiomyopathy, right aortic arch). It represents a distinct clinical entity from Kallmann syndrome.
Kallmann syndrome-heart disease syndrome
Cleft lip/palate-facial, eye, heart and intestinal anomalies syndrome
Kapur-Toriello syndrome is an extremely rare syndrome characterized by facial dysmorphism, severe intellectual deficiency, cardiac and intestinal anomalies, and growth retardation.
Kapur-Toriello syndrome
Split hand/split foot-nystagmus syndrome
Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus.
Karsch-Neugebauer syndrome
DRS
DURS
Duane syndrome
Stilling-Turk-Duane syndrome
Duane retraction syndrome (DRS) is a congenital form of strabismus characterized by horizontal eye movement limitation, globe retraction and palpebral fissure narrowing in attempted adduction. It is caused by a failure of development of the abducens nerve and can lead to amblyopia.
Duane retraction syndrome
Hemangioma-thrombocytopenia syndrome
Kasabach-Merritt syndrome (KMS), also known as hemangioma-thrombocytopenia syndrome, is a rare disorder characterized by profound thrombocytopenia, microangiopathic hemolytic anemia, and subsequent consumptive coagulopathy in association with vascular tumors, particularly kaposiform hemangioendothelioma or tufted angioma.
Kasabach-Merritt syndrome
RP54
photoreceptor cilium actin regulator
CAP
PTI
cytoplasmic antiproteinase
serpin family B member 6
DXS8237E
GPATC9
GPATCH9
KIAA0122
ZRANB5
RNA binding motif protein 10
CLSS
LRP-4
MEGF7
SOST2
LDL receptor related protein 4
FKBP6
hFKBP65
FK506 binding protein 10
vimentin
AGRIN
agrin
IGBF
MSP
MSPB
PN44
PRPS
PSP
PSP-94
PSP57
PSP94
beta-microseminoprotein
microseminoprotein beta
Mucocutaneous lymph node syndrome
Kawasaki disease (KD) is a febrile, systemic, self-limiting vasculitis affecting children and characterized by inflammation in the medium sized vessels associated with coronary arterial aneurysms (CAA) that may be life threatening when untreated. KD is the most common cause of acquired heart disease in children in developed countries and is a risk factor for ischemic heart disease in adulthood.
Kawasaki disease
C/EBP-alpha
CCAAT enhancer binding protein alpha
HBG-T2
hemoglobin subunit gamma 1
HBG-T1
hemoglobin subunit gamma 2
Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome
KBG syndrome is a rare condition characterised by a typical facial dysmorphism, macrodontia of the upper central incisors, skeletal (mainly costovertebral) anomalies and developmental delay.
KBG syndrome
Kenny syndrome
Kenny-Caffey syndrome
Hereditary keratitis
Hereditary keratitis is characterised by opacification and vascularisation of the cornea, often associated with macula hypoplasia.
Autosomal dominant keratitis
Rare genetic vascular disease
Autosomal dominant diffuse palmoplantar keratoderma, Norrbotten type
Diffuse palmoplantar keratoderma, Bothnian type
Non-epidermolytic palmoplantar keratoderma is characterised by a diffuse non-epidermolytic palmoplantar keratoderma with frequent fungal infections. Prevalence in the general population is estimated at 1 in 40,000 but is much higher in northern Sweden (0.3-0.55%). Transmission is autosomal dominant and the causative gene has been localised to chromosome 12q11-q13.
Non-epidermolytic palmoplantar keratoderma
Isolated punctate PPK
Isolated punctate palmoplantar hyperkeratosis
Isolated punctate palmoplantar keratoderma
Keratosis follicularis-dwarfism-cerebral atrophy syndrome is characterized by generalized keratosis follicularis, severe proportionate dwarfism and cerebral atrophy. It has been described in six males from one family (three boys and three maternal uncles). Generalized alopecia and microcephaly were also present.
Keratosis follicularis-dwarfism-cerebral atrophy syndrome
Dubin-Sprinz disease
Hyperbilirubinemia type 2
Sprinz-Nelson syndrome
Dubin-Johnson syndrome (DJS) is a benign, inherited liver disorder characterized clinically by chronic, predominantly conjugated, hyperbilirubinemia and histopathologically by black-brown pigment deposition in parenchymal liver cells.
Dubin-Johnson syndrome
Keratosis follicularis spinulosa decalvans is a rare genodermatosis occurring during infancy or childhood, predominantly affecting males, and characterized by diffuse follicular hyperkeratosis associated with progressive cicatricial alopecia of the scalp, eyebrows and eyelashes. Additional findings can include photophobia, corneal dystrophy, facial erythema, and/or palmoplantar keratoderma.
Keratosis follicularis spinulosa decalvans
Keratosis palmoplantaris-periodontopathia-onychogryposis syndrome
Palmoplantar hyperkeratosis-periodontopathia-onychogryposis syndrome
Palmoplantar keratoderma-periodontopathia-onychogryposis syndrome
Haim-Munk syndrome (HMS) is characterized by palmoplantar hyperkeratosis, severe early-onset periodontitis, onychogryposis, pes planus, arachnodactyly and acroosteolysis.
Haim-Munk syndrome
Isolated cloverleaf skull syndrome is a form of craniosynostosis involving multiple sutures (coronal, lambdoidal, sagittal and metopic ) characterized by a trilobular skull of varying severity (frontal towering and bossing, temporal bulging and a flat posterior skull), dysmorphic features (downslanting palpebral fissures, midface hypoplasia, and extreme proptosis) and that is complicated by hydrocephalus, cerebral venous hypertension, developmental delay/intellectual disability and hind brain herniation.
Isolated cloverleaf skull syndrome
Congenital cervical vertebral fusion
Congenital fused cervical segments
Klippel-Feil malformation
Klippel-Feil sequence
Klippel-Feil Syndrome is characterised by improper segmentation of cervical segments resulting in congenitally fused cervical vertebrae.
Isolated Klippel-Feil syndrome
Klippel-Trénaunay-Weber syndrome
Angio-osteohypertrophic (AOH) syndrome is a congenital vascular bone syndrome (CVBS) characterized by the presence of a vascular malformation in a limb, mainly of the arteriovenous type, which results in overgrowth of the affected limb.
Angioosteohypertrophic syndrome
Lethal Kniest-like dysplasia is a severe lethal skeletal dysplasia. It has been described in two sibs (one male and one female) born to nonconsanguineous parents. It is characterized by dumbbell-shaped long bones with markedly shortened diaphyses and metaphyseal irregularities.
Lethal Kniest-like dysplasia
Dunnigan syndrome
FPLD2
Familial partial lipodystrophy type 2
Familial Partial lipodystrophy, Dunnigan type (FPLD2) is a rare form of genetic lipodystrophy (see this term) characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis.
Familial partial lipodystrophy, Dunnigan type
Hoffman syndrome
Kocher-Debré-Semelaigne syndrome
Muscular pseudohypertropy - hypothyroidism, also known as Kocher-Debre-Semelaigne syndrome is a rare disorder characterized by pseudohypertrophy of muscles due to longstanding hypothyroidism (see this term).
Muscular pseudohypertrophy-hypothyroidism syndrome
Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities.
Dubowitz syndrome
Sacral meningocele-conotruncal heart defects syndrome
Kousseff syndrome is characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11 (see this term).
Kousseff syndrome
CIR
G protein-activated inward rectifier potassium channel 4
GIRK4
KATP1
Kir3.4
LQT13
potassium voltage-gated channel subfamily J member 5
alpha-fodrin
spectrin alpha, non-erythrocytic 1
HPA2
HPR2
heparanase 2 (inactive)
Bp35
MS4A2
membrane spanning 4-domains A1
TAPA-1
TSPAN28
CD81 molecule
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_2462 with label: Shprintzen-Goldberg syndrome
crystallin, gamma 8
crystallin gamma S
SPG
WDR10p
WDR140
intraflagellar transport 122
BRSS
Hypotelorism-cleft palate-hypospadias syndrome
Schilbach-Rott syndrome (SRS) is an autosomal dominant dysmorphic disorder that is characterized by dysmorphic facies with hypotelorism, blepharophimosis, and cleft palate, and the frequent occurrence of hypospadias in males.
Schilbach-Rott syndrome
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_1487 with label: Cooks syndrome
E1A enhancer binding protein
E1A-F
E1AF
PEA3
ETS variant 4
Arachnoid cysts are extraparenchymal, intra-arachnoidal collections of fluid, the composition of which is close to that of cerebrospinal fluid. They are often asymptomatic.
Arachnoid cyst
Bronchogenic cysts (BCs) are congenital malformations resulting from abnormal budding of the foregut and are most commonly found in the mediastinum.
Bronchogenic cyst
Congenital vascular bone syndrome
use http://www.orpha.net/ORDO/Orphanet_235832 with label: Congenital vascular bone syndrome
OBSOLETE: Congenital vascular bone syndrome with limb overgrowth
OBSOLETE: Congenital vascular bone syndrome with limb shortening
Familial hyperaldosteronism (FH) is the heritable form of primary aldosteronism (PA) which comprises three identified subtypes to date: FH type I (FH-I; see this term) characterized by early-onset hypertension, glucocorticoid remediable adrenocorticotropic hormone (ACTH)-dependent hyperaldosteronism, variable hypokalemia, and overproduction of 18-oxocortisol and 18-hydroxycortisol; FH type II (FH-II; see this term) characterized by hypertension of varying severity and hyperaldosteronism not suppressible by dexamethasone; and FH type III (FH-III; see this term) characterized by profound hypokalemia, early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, and overproduction of 18-oxocortisol and 18-hydroxycortisol.
Familial hyperaldosteronism
Duplication 9p
Duplication of the short arm of chromosome 9
Trisomy of the short arm of chromosome 9
Trisomy 9p is a rare chromosomal anomaly syndrome, resulting from a partial or complete trisomy of the short arm of chromosome 9, with a wide phenotypic variablility, typically characterized by intellectual disability, craniofacial dysmorphism (e.g. microcephaly, large anterior fontanel, hypertelorism, strabismus, downslanting palpebral fissures, malformed, low-set, protruding ears, bulbous nose, macrostomia, down-turned corners of mouth, micrognathia), digital anomalies (brachydactyly and clinodactyly), and short stature. Less frequently patients present with cardiopathy and renal, skeletal, and central nervous system malformations.
Trisomy 9p
LADD syndrome
LARD syndrome
Lacrimoauriculoradiodental syndrome
Levy-Hollister syndrome
Lacrimoauriculodentodigital (LADD) syndrome is a multiple congenital anomaly syndrome characterized by hypoplasia, aplasia or atresia of the lacrimal system; anomalies of the ears and hearing loss; hypoplasias, apalsias or atresias of the salivary glands; dental anomalies and digital malformations.
Lacrimoauriculodentodigital syndrome
GSD due to lactate dehydrogenase deficiency
Glycogenosis due to lactate dehydrogenase deficiency
LDH deficiency
Glycogen storage disease due to lactate dehydrogenase deficiency
OSX
osterix
Sp7 transcription factor
CMS
CD2 associated protein
Laparoschisis
Gastroschisis is marked by viscera protruding, without a covering sac, from the fetal abdomen on the right lateral base of the umbilicus. It is due to defective embryo growth and other malformations are only exceptionally associated.
Gastroschisis
LBWC syndrome
Limb body wall complex (LBWC) is characterized by severe multiple congenital anomalies in the fetus with exencephaly/encephalocele, thoraco- and/or abdominoschisis (anterior body wall defects) and limb defects, with or without facial clefts.
Limb body wall complex
B-cell antigen receptor complex-associated protein beta chain
B29
CD79b molecule
B cell adaptor containing SH2 domain
B-cell activation
B-cell adapter containing a SH2 domain protein
BASH
BLNK-s
Ly57
SLP-65
SLP65
Src homology [SH2] domain-containing leukocyte protein of 65 kD
bca
B cell linker
Duplication of the urethra is a rare congenital genitourinary anomaly, encompassing a wide spectrum of anatomic variants in which the urethra is partially or totally duplicated, which may be asymptomatic or cause symptoms such as incontinence, recurrent urinary infections and difficulty urinating.
Duplication of urethra
Larsen-like osseous dysplasia-short stature syndrome is a rare primary bone dysplasia characterized by a Larsen-like phenotype including multiple, congenital, large joint dislocations, craniofacial abnormalities (i.e. macrocephaly, flat occiput, prominent forehead, hypertelorism, low-set, malformed ears, flat nose, cleft palate), spinal abnormalities, cylindrical fingers, and talipes equinovarus, as well as growth retardation (resulting in short stature) and delayed bone age. Other reported clinical manifestations include severe developmental delay, hypotonia, clinodactyly, congenital heart defect and renal dysplasia.
Larsen-like osseous dysplasia-short stature syndrome
Larsen-like syndrome, lethal type, is characterised by multiple joint dislocation and respiratory insufficiency due to tracheomalacia and/or lung hypoplasia. It has been described in less than ten patients. Transmission is thought to be autosomal recessive. Brain dysplasia has been described in some patients and could result from systemic hypoxic-ischemic insults during the second half of pregnancy, although genetic factors have not been ruled out.
Lethal Larsen-like syndrome
Laryngocele
Congenital laryngomalacia
Congenital laryngeal web is a rare malformation consisting of a membrane-like structure that extends across the laryngeal lumen close to the level of the vocal cords.
Congenital laryngeal web
T-box 20
tolloid like 1
Plott syndrome
Laryngeal abductor paralysis-intellectual disability syndrome is characterised by congenital and permanent laryngeal abductor paralysis, associated, in the majority of cases, with intellectual deficit. It has been described in several families. X-linked inheritance is likely.
Laryngeal abductor paralysis-intellectual disability syndrome
Laurence-Moon syndrome (LMS) is a very rare genetic multisystemic disorder characterized by pituitary dysfunction, ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinal dystrophy.
Laurence-Moon syndrome
Mirror hands and feets-nasal defects syndrome
Sandrow syndrome
Laurin-Sandrow syndrome (LSS) is characterised by complete polysyndactyly of the hands, mirror feet and nose anomalies (hypoplasia of the nasal alae and short columella), often associated with ulnar and/or fibular duplication (and sometimes tibial agenesis). It has been described in less than 20 cases. Some cases with the same clinical signs but without nasal defects have also been reported, and may represent the same entity. The etiology of LSS is unknown. Different modes of inheritance have been suggested.
Laurin-Sandrow syndrome
Laxova-Opitz syndrome
Waisman syndrome
Early-onset parkinsonism with intellectual deficit is a basal ganglia disorder characterised by parkinsonian-type symptoms (postural changes, tremor, rigidity), megalencephaly and variable intellectual deficit. Other signs are frontal bossing, persistent frontal lobe reflexes, strabismus and seizures. It has been described in three generations of one family. Transmission is X-linked, and the gene is located on chromosomal region Xq27.3-qter.
Early-onset parkinsonism-intellectual disability syndrome
Digestive duplication
Aseptic necrosis of the capital femoral epiphysis
Osteochondritis of the capital femoral epiphysis
Osteochondrosis of the capital femoral epiphysis
Perthes disease
Legg-Calve-Perthes disease (LCPD) is the term used to describe uni- or bilateral avascular necrosis (AVN) of the femoral head in children.
Legg-Calvé-Perthes disease
Lennox-Gastaut syndrome (LGS) belongs to the group of severe childhood epileptic encephalopathies.
Lennox-Gastaut syndrome
Apolipoprotein A-II amyloidosis
Familial amyloid nephropathy due to apolipoprotein A-II variant
Familial renal amyloidosis due to apolipoprotein A-II variant
Hereditary amyloid nephropathy due to apolipoprotein A-II variant
Hereditary renal amyloidosis due to apolipoprotein A-II variant
AApoAII amyloidosis
Infundibulo-neurohypophysitis is a rare, acquired pituitary hormone deficiency, a type of primary hypophysitis characterized by an inflammation of the posterior pituitary and the stalk. The major clinical manifestation is diabetes insipidus with polyuria and polydipsia. Less frequent symptoms are headaches, adrenal insufficiency, hyperprolactinemia and hypogonadism.
Infundibulo-neurohypophysitis
Mitochondrial encephalomyopathy due to COXPD6
Mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6
Severe X-linked mitochondrial encephalomyopathy is an extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting in the two patients reported to date.
Severe X-linked mitochondrial encephalomyopathy
15q11-q13 duplication syndrome
15q11-q13 microduplication syndrome
15q11q13 duplication syndrome
Dup(15)(q11q13)
Trisomy 15q11-q13
Trisomy 15q11q13
The 15q11-q13 microduplication (dup15q11-q13) syndrome is characterized by neurobehavioral disorders, hypotonia, cognitive deficit, language delay and seizures. Prevalence is unknown.
15q11q13 microduplication syndrome
IPD
PKDYS
Infantile dystonia-parkinsonism (IPD) is an extremely rare inherited neurological syndrome that presents in early infancy with hypokinetic parkinsonism and dystonia and that can be fatal.
Infantile dystonia-parkinsonism
CDG syndrome type IIf
CDG-IIf
CDG2F
CMP-sialic acid transporter deficiency
Carbohydrate deficient glycoprotein syndrome type IIf
Congenital disorder of glycosylation type 2f
Congenital disorder of glycosylation type IIf
SLC35A1-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage.
SLC35A1-CDG
Anhidrotic ectodermal dysplasia
Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder of ectoderm development characterized by malformation of ectodermal structures such as skin, hair, teeth and sweat glands. It comprises three clinically almost indistinguishable subtypes with impaired sweating as the key symptom: Christ-Siemens-Touraine (CST) syndrome (X-linked), autosomal recessive (AR), and autosomal dominant (AD) HED, as well as a fourth rare subtype with immunodeficiency as the key symptom (HED with immunodeficiency) (see these terms).
Hypohidrotic ectodermal dysplasia
Hereditary hypercholanemia
Familial hypercholanemia is a very rare genetic disorder characterized clinically by elevated serum bile acid concentrations, itching, and fat malabsorption reported in patients of Old Order Amish descent.
Familial hypercholanemia
CD27 deficiency
Autosomal recessive lymphoproliferative disease is a rare combined T and B cell immunodeficiency with a predisposition to lymphoproliferative syndrome. It is characterized by persistent symptomatic EBV-viremia and hypogammaglobulinemia variably presenting with fever, lymphadenopathy and systemic inflammatory conditions including hepatitis, pneumonia and sepsis. It may be associated with lymphoma, hemophagocytic lymphohistiocytosis, and aplastic anemia.
Autosomal recessive lymphoproliferative disease
Lymphoproliferative syndrome
Hypotonia-cystinuria type 1 syndrome
Atypical HCS
Atypical hypotonia-cystinuria syndrome is a form of hypotonia-cystinuria type 1 syndrome characterized by mild to moderate intellectual disability in addition to classic hypotonia-cystinuria syndrome phenotype (cystinuria type 1, generalised hypotonia, poor feeding, growth retardation, and minor facial dysmorphism).
Atypical hypotonia-cystinuria syndrome
Congenital secondary erythrocytosis
Congenital secondary polycythemia
THES
thespin
tetratricopeptide repeat domain 37
Acquired secondary erythrocytosis
Acquired secondary polycythemia
Chuvash polycythemia
Von Hippel-Lindau-dependent polycythemia
Chuvash erythrocytosis is a rare, genetic, congenital secondary polycythemia disorder characterized by increased hemoglobin, hematocrit and erythropoietin serum levels and normal oxygen affinity, which usually manifests with headache, dizziness, dyspnea and/or plethora. Patients present an increased risk of hemorrhage, thrombosis and early death.
Chuvash erythrocytosis
IL10-related early-onset IBD
IL10-related early-onset inflammatory bowel disease
Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome is a rare immune dysregulation disease with immunodeficiency characterized by severe, progressive infantile onset inflammatory bowel disease with pancolitis, perianal disease (ulceration, fistulae), recurrent respiratory, genitourinary and cutaneous infections, arthritis and a high risk of B-cell lymphoma.
Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome
Hereditary clubfoot due to 17q23.1-q23.2 microduplication
17q23.1-q23.2 microduplication is a newly described cause of familial isolated clubfoot.
Familial clubfoot due to 17q23.1q23.2 microduplication
Hyperphenylalaninemia due to BH4 deficiency
Non-phenylketonuric hyperphenylalaninemia
Hyperphenylalaninemia (HPA) due to tetrahydrobiopterin (BH4) deficiency, also known as malignant HPA is an amino acid disorder with neonatal onset that is clinically characterized by the classic manifestations of phenylketonuria (PKA; see this term) and that later on is clinically differentiated by neurologic symptoms such as microcephaly, intellectual disability, central hypotonia, delayed motor development, peripheral spasticity and seizures, that develop and persist despite an established metabolic control of plasma phenylalanine.
Hyperphenylalaninemia due to tetrahydrobiopterin deficiency
Isolated mesenteric lipodystrophy
Lipomatous mesenteritis
Liposclerotic mesenteritis
Mesenteric lipogranuloma
Mesenteric panniculitis
Sclerosing mesenteritis
Sclerosing mesenteritis (SM) is a rare pathological disease causing inflammation of the adipose tissue of the small bowel mesentery and is commonly associated with abdominal pain, diarrhea, nausea, weight loss, bloating and loss of appetite. The two subforms include mesenteric panniculitis (where inflammation and fatty necrosis are dominant features) and retractile mesenteritis (where fibrosis and retraction dominate).
IgG4-related mesenteritis
Leukoencephalopathy-palmoplantar keratoderma syndrome is a rare, genetic epidermal disease characterized by early childhood-onset of punctate palmoplantar keratoderma in association with adult-onset leukoencephalopathy manifested by progressive tetrapyramidal syndrome and cognitive deterioration.
Leukoencephalopathy-palmoplantar keratoderma syndrome
POT
Primary orthostatic tremor (POT), or ``shaky legs syndrome'', is a rare movement disorder characterized by fast, task-specific tremor, affecting the legs and trunk while standing.
Primary orthostatic tremor
Beckwith-Wiedemann syndrome due to NSD1 mutation
Benign intracranial hypertension
IIH
Pseudotumor cerebri
Idiopathic intracranial hypertension is a neurological disorder characterized by isolated increased intracranial pressure manifesting with recurrent and persistent headaches, nausea, vomiting, progressive and transient obstruction of the visual field, papilledema. Visual loss can be irreversible.
Idiopathic intracranial hypertension
Megaureter-megacystis syndrome
Megacystic-megaureter syndrome is an urinary tract malformation characterized by the presence of a massive primary non-obstructive vesicoureteral reflux and a large capacity, smooth, thin walled bladder due to the continual recycling of refluxed urine. Recurrent urinary infections are commonly associated with this condition.
Megacystis-megaureter syndrome
Primary megaureter, adult-onset form
Congenital primary megaureter, obstructed form
Congenital primary megaureter, refluxing form
Congenital primary megaureter, nonrefluxing and unobstructed form
Isolated congenital hypogonadotropic hypogonadism
Isolated TRF deficiency
Isolated TRH deficiency
Isolated TSH-releasing factor deficiency
Isolated prothyroliberin deficiency
Isolated protirelin deficiency
Isolated thyroliberin deficiency
Isolated thyrotropin-releasing factor deficiency
Isolated thyrotropin-releasing hormone deficiency
Neonatal iodine exposure is a rare endocrine disease characterized by the appearance of transient hypothyroidism, usually in preterm newborns, following long or short-term topical iodine exposure. Parenteral exposure from iodinated contrast agents may similarly alter thyroid funtion in term neonates.
Neonatal iodine exposure
Transient congenital hypothyroidism due to maternal factor
Transient congenital hypothyroidism due to neonatal factor
Leukonychia totalis is a rare nail anomaly disorder characterized by complete white discoloration of the nails. Patients typically present white, chalky nails as an isolated finding, although other cutaneous or systemic manifestations could also be present.
Leukonychia totalis
Familial congenital controlateral synkinesia
Hereditary congenital controlateral synkinesia
Hereditary congenital mirror movements
Isolated congenital controlateral synkinesia
Isolated congenital mirror movements
Familial congenital mirror movements
MDN syndrome
Onycho-digito-mammary syndrome
Mammary-digital-nail syndrome is a syndromic limb malformation characterized by congenital onychodystrophy/anonychia, brachydactyly of the fifth finger, digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet in association with juvenile hypertrophy of the breast with gigantomastia in peripubertal females.
Mammary-digital-nail syndrome
Del(4)(q21)
Monosomy 4q21
The 4q21 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, progressive growth restriction, severe intellectual deficit and absent or severely delayed speech.
4q21 microdeletion syndrome
LGMD1H
Autosomal dominant limb-girdle muscular dystrophy type 1H (LGMD1H) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by slowly progressive proximal muscular weakness initially affecting the lower limbs (and later involving the upper limbs), hypotrophy of upper and lower limb-girdle muscles, hyporeflexia, calf hypertrophy, and increased serum creatine kinase. There is no involvement of oculo-facial-bulbar muscles and cardiac muscle.
Autosomal dominant limb-girdle muscular dystrophy type 1H
Megalocornea-spherophakia-secondary glaucoma syndrome
Glaucoma secondary to spherophakia/ectopia lentis and megalocornea is a rare, genetic, non-syndromic developmental defect of the eye disorder characterized by congenital megalocornea associated with spherophakia and/or ectopia lentis leading to pupillary block and secondary glaucoma. Additional features may include flat irides, iridodonesis, axial myopia, very deep anterior chambers, miotic, oval pupils without well-defined borders, ocular pain and irritability manifesting as conjunctival injection, corneal edema and central scarring, as well as a high arched palate.
Glaucoma secondary to spherophakia/ectopia lentis and megalocornea
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_284160 with label: 8q21.11 microdeletion syndrome
Ptosis-syndactyly-learning difficulties syndrome
Del(1)(q44)
Monosomy 1q44
1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia.
1q44 microdeletion syndrome
ChAc
Chorea-acanthocytosis
Levine-Critchley syndrome
Chorea-acanthocytosis (ChAc) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances.
Choreoacanthocytosis
HA6116
HD4
HDAC-4
HDAC-A
HDACA
KIAA0288
histone deacetylase 4
RP57
phosphodiesterase 6G
Dyggve-Melchior-Clausen disease (DMC) is a rare skeletal disorder belonging to the group of spondyloepimetaphyseal dysplasias (see this term).
Dyggve-Melchior-Clausen disease
Lichstenstein syndrome is characterised by frequent infections associated with osteoporosis, a tendency for fractures and osseous anomalies. It has been described in two monozygotic twin brothers. Transmission is autosomal recessive.
Lichtenstein syndrome
IPM200
RP56
interphotoreceptor matrix proteoglycan 2
ALR
CAGL114
MLL4
histone-lysine N-methyltransferase 2D
lysine methyltransferase 2D
DERMO1
Dermo-1
bHLHa39
twist family bHLH transcription factor 2
Congenital shortness of the costocoracoid ligament is a rare anomaly characterized by fixation of the scapula to the first rib, resulting in a cosmetic deformity with rounding of the shoulders and loss of the anterior clavicular contour.
Congenitally short costocoracoid ligament
DLD deficiency
Dihydrolipoamide dehydrogenase deficiency
E3-deficient maple syrup urine disease
Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease.
Pyruvate dehydrogenase E3 deficiency
Haberland syndrome
Encephalocraniocutaneous lipomatosis
Cephalothoracic lipodystrophy
Familial benign cervical lipomatosis
Launois-Bensaude lipomatosis
Madelung disease
Multiple symmetric lipomatosis (MSL) is a rare subcutaneous tissue disease characterized by growth of symmetric non-encapsulated masses of adipose tissue mostly around the face and neck with variable clinical repercussions (e.g. reduced neck mobility, compression of respiratory structures).
Multiple symmetric lipomatosis
SPI-B
Spi-B transcription factor
IL-12, subunit p35
IL-12A
IL35 subunit
NF cell stimulatory factor chain 1
NFSK
cytotoxic lymphocyte maturation factor 1, p35
interleukin 12, p35
interleukin-12 alpha chain
natural killer cell stimulatory factor 1, 35 kD subunit
p35
interleukin 12A
interferon regulatory factor 5
IPO12
MTR10A
TRN-SR
TRN-SR2
importin 12
transportin 3
NEPII
NL1
NL2
SEP
membrane metalloendopeptidase like 1
CCAAT-binding transcription factor
NF1A
nuclear factor I X
arylesterase 1
esterase A
paraoxonase 1
arylesterase 2
paraoxonase nirs
paraoxonase 2
arylesterase 3
paraoxonase 3
PDZ domain containing 7
Nasopalpebral lipoma-coloboma-telecanthus syndrome is characterized by nasopalpebral lipomas, bilateral lid coloboma, and telecanthus.
Nasopalpebral lipoma-coloboma syndrome
DFNA65
KIAA1171
TBC/LysM-associated domain containing 6
TLDC6
skywalker homolog (Drosophila)
TBC1 domain family member 24
WD repeat domain 62
IFT121
IFTA1
KIAA1336
WD repeat domain 35
PPP1R115
phosphatase 1, regulatory subunit 115
tight junction protein occludin TM4 minus
occludin
FAM161A, centrosomal protein
RP58
zinc finger protein 513
ABHD12A
BEM46L2
abhydrolase domain containing 12
Fumarase deficiency
Fumaric aciduria (FA), an autosomal recessive metabolic disorder, is most often characterized by early onset but non-specific clinical signs: hypotonia, severe psychomotor impairment, convulsions, respiratory distress, feeding difficulties and frequent cerebral malformations, along with a distinctive facies. Some patients present with only moderate intellectual impairment.
Fumaric aciduria
Léri-Weill syndrome
Léri-Weill dyschondrosteosis (LWD) is a skeletal dysplasia marked by disproportionate short stature and the characteristic Madelung wrist deformity (see this term).
Léri-Weill dyschondrosteosis
Lisker-Garcia-Ramos syndrome
Peripheral motor neuropathy-dysautonomia syndrome is characterised by distal, slowly progressive muscular weakness, childhood-onset amyotrophy, autonomic dysfunction characterized by profuse sweating, distal cyanosis related to cold weather, orthostatic hypotension, and esophageal achalasia. It has been described in two sisters. Inheritance appears to be autosomal recessive.
Peripheral motor neuropathy-dysautonomia syndrome
Classic PSP syndrome
Richardson syndrome
Steele-Richardson-Olszewski disease
Classical progressive supranuclear palsy, also known as Richardson's syndrome, is the most common clinical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease characterized by postural instability, progressive rigidity, supranuclear gaze palsy and mild dementia.
Classic progressive supranuclear palsy syndrome
PSP-p
PSP-parkinsonism
PSP-parkinsonism (PSP-P) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease.
Progressive supranuclear palsy-parkinsonism syndrome
PSP-PAGF
PSP-pure akinesia with gait freezing
PSP-Pure akinesia with gait freezing (PSP-PAGF) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease.
Progressive supranuclear palsy-pure akinesia with gait freezing syndrome
PSP-CBS
PSP-corticobasal syndrome
PSP-corticobasal syndrome (PSP-CBS) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease.
Progressive supranuclear palsy-corticobasal syndrome
PSP-AOS
PSP-PNFA
Progressive supranuclear palsy-apraxia of speech syndrome
PSP-progressive non fluent aphasia (PSP-PNFA) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease. Unlike classic PSP (Richardson syndrome) patients present with an isolated speech production problem years before developing other motor features of PSP.
Progressive supranuclear palsy-progressive non-fluent aphasia syndrome
use http://www.orpha.net/ORDO/Orphanet_157987 with label: Non-Langerhans cell histiocytosis
OBSOLETE: Systemic non-Langerhans cell histiocytosis
Syndromic obesity
, endemic to the forest and savannah regions of Central and Western Africa. Loiasis may either be asymptomatic or manifest as a large, transient area of localized, non-erythematous subcutaneous edema (Calabar swellings), adult worm migration through the sub-conjunctiva (''African eye worm'') and pruritus. Generalized itching, hives, muscle pains, arthralgias, fatigue, and adult worms visibly migrating under the surface of the skin may be observed. Severe complications such as encephalopathy have been reported in highly infected individuals receiving ivermectin during mass drug administration programs for the control of onchocerciasis and lymphatic filariasis (see these terms).
Loiasis
Escher-Hirt syndrome
Thickened earlobes-conductive deafness syndrome is characterized by microtia with thickened ear lobes, micrognathia and conductive hearing loss due to congenital ossicular anomalies. It has been described in two families. The mode of inheritance is autosomal dominant.
Thickened earlobes-conductive deafness syndrome
Cerebromedullospinal disconnection
Locked-in syndrome (LIS) is a neurological condition characterized by the presence of sustained eye opening, quadriplegia or quadriparesis, anarthria, preserved cognitive functioning and a primary code of communication that uses vertical eye movements or blinking.
Locked-in syndrome
LGN
Pins
G protein signaling modulator 2
CGI-04
mt-TyrRS
tyrosine tRNA ligase 2, mitochondrial
tyrosyl-tRNA synthetase 2
EKLF
erythroid Kruppel-like factor
Kruppel like factor 1
KIAA0912
MCPH9
SCKL5
asterless
centrosomal protein 152
apolipoprotein L1
Pc class homolog (Drosophila)
chromobox 2
MRG1
Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2
LOGIC syndrome
Laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome
Laryngo-onycho-cutaneous syndrome
Shabbir syndrome
LOC syndrome is a subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites.
LOC syndrome
Microcephaly and chromosomal instability without immunodeficiency
NBS-like disorder
NBSLD
RAD50 deficiency
Nijmegen breakage syndrome-like disorder is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by growth retardation, short stature, developmental delay, intellectual disability, craniofacial dysmorphism (i.e. severe microcephaly, sloping forehead, prominent eyes, broad nasal ridge, hypoplastic nasal septum, epicanthal folds), spontaneous chromosomal instability, cellular hypersensitivity to ionizing radiation and radioresistant DNA synthesis, without severe infections, immunodeficiency or cancer predisposition. Additional reported features include mild spasticity, slight and nonprogressive ataxia, hyperopia, multiple pigmented nevi, widely spaced nipples, and clinodactyly.
Nijmegen breakage syndrome-like disorder
Deafness-nephritis-ano-rectal malformation syndrome
Lowe-Kohn-Cohen syndrome is an extremely rare anorectal malformation syndrome characterized by imperforate anus, closed ano-perineal fistula, preauricular skin tag and absent renal abnormalities and pre-axial limb deformities. There have been no further descriptions in the literature since 1983.
Lowe-Kohn-Cohen syndrome
use http://www.orpha.net/ORDO/Orphanet_413674 with label: Vitamin K antagonists toxicity or dose selection
use http://www.orpha.net/ORDO/Orphanet_413667 with label: Antidepressant or antipsychotic toxicity or dose selection
use http://www.orpha.net/ORDO/Orphanet_413696 with label: Statin toxicity
use http://www.orpha.net/ORDO/Orphanet_413687 with label: Azathioprine or 6-mercatopurine toxicity or dose selection
use http://www.orpha.net/ORDO/Orphanet_240839 with label: 5-fluorouracil toxicity
use http://www.orpha.net/ORDO/Orphanet_414750 with label: Phenytoin or carbamazepine toxicity
use http://www.orpha.net/ORDO/Orphanet_413681 with label: Oral antidiabetic drugs toxicity or dose selection
use http://www.orpha.net/ORDO/Orphanet_413693 with label: Curariform drugs toxicity
use http://www.orpha.net/ORDO/Orphanet_240871 with label: Flucloxacilline toxicity
Lowry-MacLean syndrome is a very rare syndrome characterized by microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations.
Lowry-MacLean syndrome
OBSOLETE: Azathioprine dose selection in the treatment of Crohn disease, leukemia and in transplantation
OBSOLETE: Mercaptopurine dose selection in the treatment of Crohn disease, leukemia and in transplantation
use http://www.orpha.net/ORDO/Orphanet_413684 with label: Resistance to vitamin K antagonists
OBSOLETE: Resistance to acenocoumarol in venous thrombosis and atrial fibrillation
OBSOLETE: Resistance to amitriptyline in the treatment of depression
OBSOLETE: Resistance to clomipramine in the treatment of depression
OBSOLETE: Resistance to fluindione in venous thrombosis and atrial fibrillation
OBSOLETE: Resistance to imipramine in the treatment of depression
OBSOLETE: Resistance to nortripilline in the treatment of depression
OBSOLETE: Resistance to phenprocoumon in venous thrombosis and atrial fibrillation
use http://www.orpha.net/ORDO/Orphanet_241043 with label: Tacrolimus dose selection
OBSOLETE: Resistance to tacrolimus in transplantation
OBSOLETE: Resistance to trimipramine in the treatment of depression
OBSOLETE: Resistance to venlafaxine in the treatment of depression
OBSOLETE: Resistance to warfarine in venous thrombosis and atrial fibrillation
OBSOLETE: Susceptibility to adverse reaction due to 5-fluorouracil treatment
OBSOLETE: Susceptibility to adverse reaction due to amitriptyline treatment
OBSOLETE: Susceptibility to adverse reaction due to antipsychotics treatment
OBSOLETE: Susceptibility to adverse reaction due to atorvastatin treatment
OBSOLETE: Susceptibility to adverse reaction due to capecitabine treatment
OBSOLETE: Susceptibility to adverse reaction due to clomipramine treatment
OBSOLETE: Susceptibility to adverse reaction due to codeine treatment
use http://www.orpha.net/ORDO/Orphanet_240869 with label: Efavirenz toxicity
OBSOLETE: Susceptibility to adverse reaction due to efavirenz treatment
OBSOLETE: Susceptibility to adverse reaction due to imipramine treatment
use http://www.orpha.net/ORDO/Orphanet_240885 with label: Irinotecan toxicity
OBSOLETE: Susceptibility to adverse reaction due to irinotecan treatment
use http://www.orpha.net/ORDO/Orphanet_240887 with label: Isoniazid toxicity
OBSOLETE: Susceptibility to adverse reaction due to isoniazide treatment
use http://www.orpha.net/ORDO/Orphanet_413690 with label: Methotrexate toxicity or dose selection
OBSOLETE: Susceptibility to adverse reaction due to methotrexate treatment
OBSOLETE: Susceptibility to adverse reaction due to nortriptyline treatment
OBSOLETE: Susceptibility to adverse reaction due to pravastatin treatment
OBSOLETE: Susceptibility to adverse reaction due to rosuvastatin treatment
OBSOLETE: Susceptibility to adverse reaction due to simvastatin treatment
OBSOLETE: Susceptibility to adverse reaction due to trimipramine treatment
OBSOLETE: Susceptibility to adverse reaction due to venlafaxine treatment
OBSOLETE: Susceptibility to bleeding due to acenocoumarol treatment
OBSOLETE: Susceptibility to bleeding due to fluindione treatment
OBSOLETE: Susceptibility to bleeding due to phenprocoumon treatment
OBSOLETE: Susceptibility to bleeding due to warfarine treatment
use http://www.orpha.net/ORDO/Orphanet_240863 with label: Cisplatin toxicity
OBSOLETE: Susceptibility to deafness due to cisplatin treatment
Dyschromatosis universalis hereditaria
Lubinsky syndrome
This syndrome is characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. It has been described in three brothers from a consanguineous family.
Hypergonadotropic hypogonadism-cataract syndrome
OBSOLETE: Susceptibility to hepatitis due to flucloxacilline treatment
OBSOLETE: Susceptibility to hepatitis due to voriconazole treatment
use http://www.orpha.net/ORDO/Orphanet_240841 with label: Abacavir toxicity
OBSOLETE: Susceptibility to hypersensitivity syndrome due to abacavir treatment
OBSOLETE: Susceptibility to hypoglycemia due to carbutamide treatment
OBSOLETE: Susceptibility to hypoglycemia due to glibenclamide treatment
OBSOLETE: Susceptibility to hypoglycemia due to gliclazide treatment
OBSOLETE: Susceptibility to hypoglycemia due to glimepiride treatment
OBSOLETE: Susceptibility to hypoglycemia due to glipizide treatment
OBSOLETE: Susceptibility to icterus due to raltegravir treatment
OBSOLETE: Susceptibility to neutropenia due to azathioprine treatment
OBSOLETE: Susceptibility to neutropenia due to mercaptopurine treatment
OBSOLETE: Susceptibility to prolonged paralysis due to cisatracurium treatment
OBSOLETE: Susceptibility to prolonged paralysis due to mivacurium treatment
OBSOLETE: Susceptibility to prolonged paralysis due to pancuronium treatment
OBSOLETE: Susceptibility to prolonged paralysis due to rocuronium treatment
OBSOLETE: Susceptibility to prolonged paralysis due to satracurium treatment
OBSOLETE: Susceptibility to prolonged paralysis due to vecuronium treatment
use http://www.orpha.net/ORDO/Orphanet_240845 with label: Allopurinol toxicity
OBSOLETE: Susceptibility to toxic epidermal necrolysis due to allopurinol treatment
OBSOLETE: Susceptibility to toxic epidermal necrolysis due to carbamazepine treatment
OBSOLETE: Susceptibility to toxic epidermal necrolysis due to phenytoin treatment
OBSOLETE: Susceptibility to toxic epidermal necrolysis due to phosphenytoin treatment
OBSOLETE: Warfarine dose selection in the treatment of venous thrombosis and atrial fibrillation
Collins-Pope syndrome
Dislocation of the hip-dysmorphism syndrome is a rare multiple congenital anomalies syndrome characterized by bilateral congenital dislocation of the hip, characteristic facial features (flat mid-face, hypertelorism, epicanthus, puffiness around the eyes, broad nasal bridge, carp-shaped mouth), and joint hyperextensibility. Congenital heart defects, congenital dislocation of the knee, congenital inguinal hernia, and vesicoureteric reflux have also been reported. There have been no further descriptions in the literature since 1995.
Dislocation of the hip-dysmorphism syndrome
Pulmonary lymphangiomatosis
Congenital pulmonary lymphangiectasia (PL) is a rare developmental disorder involving the lung and characterized by pulmonary subpleural, interlobar, perivascular, and peribronchial lymphatic dilatation.
Congenital pulmonary lymphangiectasia
Lymphangioma
Lymphatic malformation (LM), formerly referred to as lymphangioma, is a malformation localised to the lymphatic system.
Rare lymphatic malformation
use http://www.orpha.net/ORDO/Orphanet_79452 with label: Milroy disease
catechol-O-methyltransferase
LST-1
OATP-C
OATP1B1
solute carrier organic anion transporter family member 1B1
46,XY CGD
46,XY pure gonadal dysgenesis
Swyer syndrome
46,XY complete gonadal dysgenesis (46,XY CGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that result in the presence of female external and internal genitalia despite the 46,XY karyotype.
46,XY complete gonadal dysgenesis
Primary pulmonary lymphoma (PPL) is a rare lymphoma of the lung, defined as a clonal lymphoid proliferation affecting one or both lungs (parenchyma and/or bronchi) in a patient with no detectable extrapulmonary involvement at diagnosis or during the subsequent 3 months. PPL comprises low grade/indolent B cell PPL forms, the most frequent form represented by the marginal B-cell lymphoma of mucosa associated lymphoid tissue (MALT lymphoma) and other non-MALT low grade lymphomas; and more rarely high-grade B-cell PPL (including diffuse large B cell lymphoma) and lymphomatoid granulomatosis (LYG).
Primary pulmonary lymphoma
RAD50-2
hRad50
RAD50 double strand break repair protein
DHDPS2
N-acetylneuraminate pyruvate lyase 2 (putative)
NPL2
dihydrodipicolinate synthetase homolog 2 (E. coli)
4-hydroxy-2-oxoglutarate aldolase 1
DISPA
dispatched RND transporter family member 1
Volcke-Soekarman syndrome
Macrocephaly-short stature-paraplegia syndrome is characterized by macrocephaly and midface hypoplasia, intellectual deficit, short stature, spastic paraplegia and severe central nervous system anomalies (hydrocephalus and Dandy-Walker malformation). It has been described in two unrelated adults.
Macrocephaly-short stature-paraplegia syndrome
Fryns macrocephaly
Macrocephaly-spastic paraplegia-dysmorphism syndrome is a rare syndrome of multiple congenital anomalies characterized by macrocephaly (of post-natal onset) with large anterior fontanelle, progressive complex spastic paraplegia, dysmorphic facial features (broad and high forehead, deeply set eyes, short philtrum with thin upper lip, large mouth and prominent incisors), seizures, and intellectual deficit of varying severity. Inheritance appears to be autosomal recessive.
Macrocephaly-spastic paraplegia-dysmorphism syndrome
RNF55
c-Cbl
oncogene CBL2
Cbl proto-oncogene
SRD5A2L
SRD5A2L1
steroid 5 alpha-reductase 3
Friedreich ataxia region gene X104 (tight junction protein ZO-2)
ZO-2
ZO2
zona occludens 2
tight junction protein 2
SPG55
chromosome 12 open reading frame 65
46,XX complete gonadal dysgenesis
46,XX ovarian dysgenesis
46,XX pure gonadal dysgenesis
FSH-RO
Follicular stimulating hormone-resistant ovaries
Hypergonadotropic ovarian dysgenesis
XX female gonadal dysgenesis
XX-GD
46,XX gonadal dysgenesis (46,XX GD) is a primary ovarian defect leading to premature ovarian failure (POF; see this term) in otherwise normal 46,XX females as a result of failure of the gonads to develop or due to resistance to gonadotrophin stimulation.
46,XX gonadal dysgenesis
Congenital macroglossia
Central bilateral macrogyria is a neuronal migration disorder characterised by pseudobulbar palsy, developmental delay, mild mental retardation and epilepsy. It has been described in at least four children.
Central bilateral macrogyria
Teebi-Al Saleh-Hassoon syndrome
Macrosomia-microphthalmia-cleft palate syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by early macrosomia, bilateral severe microphthalmia and a protuberant abdomen with hepatomegaly. Additional reported features include brachycephaly, large fontanelles, prominent forehead, upturned nose and median cleft palate. Cyanotic apneic spells and overwhelming infection lead to death within the first 6 months of life. There have been no further descriptions in the literature since 1989.
Macrosomia-microphthalmia-cleft palate syndrome
DMG dehydrogenase deficiency
DMGDH deficiency
Dimethylglycine dehydrogenase deficiency is an extremely rare autosomal recessive glycine metabolism disorder characterized clinically in the single reported case to date by muscle fatigue and a fish-like odor.
Dimethylglycine dehydrogenase deficiency
AFLP
Acute fatty liver of pregnancy is a rare but severe complication occurring in the third trimester of pregnancy or in early postpartum period bearing a risk for perinatal and maternal mortality and characterized by jaundice, rise of hepatic injuries and evolving to acute liver failure and encephalopathy.
Acute fatty liver of pregnancy
Westerhof-Beemer-Cormane syndrome
Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome is a rare, genetic pigmentation anomaly of the skin disorder characterized by congenital hypomelanotic and hypermelanotic cutaneous macules associated with, in some patients, retarded growth and intellectual disability. There have been no further descriptions in the literature since 1978.
Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome
Split hand with obstructive uropathy, spina bifida and diaphragmatic defects
Split hand-urinary anomalies-spina bifida syndrome
Czeizel-Losonci syndrome (CLS) is an exceedingly rare, severe, congenital genetic malformation disorder characterized by split hand/split foot, hydronephrosis, and spina bifida. Spinal and skeletal manifestations were thoracolumbar scoliosis, spinabifida (spina bifida occulta or spina bifida cystic), Bochdalek diaphragmatic hernia, and radial defects.There have been no further descriptions in the literature since 1987.
Czeizel-Losonci syndrome
HFGS
Hand-foot-uterus syndrome
Hand-foot-genital syndrome (HFGS) is a very rare multiple congenital abnormality syndrome characterized by distal limb malformations and urogenital defects.
Hand-foot-genital syndrome
Patterson-Stevenson syndrome
Split foot deformity-mandibulofacial dysostosis syndrome
Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies.
Patterson-Stevenson-Fontaine syndrome
Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of PCD patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy; see these terms).
Primary ciliary dyskinesia
Ectrodactyly
SHFM
Split hand foot malformation
Split hand-split foot malformation (SHFM) refers to a spectrum of genetically and clinically heterogenous terminal limb defect (see this term) characterized by hypoplasia/ absence of central rays of the hands and feet (that can occur in one to all four digits), median clefts of the hands and/ or feet, aplasia and syndactyly, with a wide range of severity ranging from malformed central finger/ toe to a lobster claw-like appearance of the hands and feet. SHFM can be an isolated malformation or can be a feature in various syndromes (ADULT syndrome, EEC syndrome; see these terms). SHFM usually follows an autosomal dominant pattern of inheritance with incomplete penetrance, but autosomal recessive and rarely X-linked inheritance have also been reported.
Isolated split hand-split foot malformation
Duncan disease
Purtilo syndrome
X-linked lymphoproliferative disease is a hereditary immunodeficiency characterized, in the majority of cases, by an inadequate immune response to infection with the Epstein-Barr virus (EBV).
X-linked lymphoproliferative disease
KIAA1461
methyl-CpG binding domain protein 5
Hemolysis, elevated liver enzymes, low platelets in pregnancy
Hemolysis-elevated liver enzymes-low platelets syndrome
HELLP syndrome
dimethylglycine dehydrogenase
BASM syndrome
Biliary atresia with splenic malformation syndrome (BASM) designates the association of biliary atresia (see this term) and splenic abnormalities (mainly polysplenia and less frequently asplenia, double spleen). Cardiac defect, situs inversus and a preduodenal portal vein can also be present. It represents the embryonal or syndromic form of biliary atresia. It affects newborns or infants and is characterized by jaundice, pale stools, dark urine, failure to thrive, hepatomegaly, coagulopathy, anemia and often palpable spleen.
Biliary atresia with splenic malformation syndrome
Mitochondrial oxidative phosphorylation disorder due to nDNA anomalies
OXPHOS disease due to nDNA anomalies
OXPHOS disease due to nuclear DNA anomalies
Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms).
Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies
Dominant hypophosphatemia with nephrolithiasis or osteoporosis is a rare, genetic, renal tubular disease characterized by hypophosphatemia, decreased renal phosphate resorption and hypercalciuria leading to calcium nephrolithiasis and/or nephrocalcinosis and osteoporosis, in the presence of normal/increased serum calcitriol levels.
Dominant hypophosphatemia with nephrolithiasis or osteoporosis
CDG syndrome type In
CDG-In
CDG1N
Carbohydrate deficient glycoprotein syndrome type In
Congenital disorder of glycosylation type 1n
Congenital disorder of glycosylation type In
Man5GlcNAc2-PP-Dol flippase deficiency
RFT1-CDG
EBP50
NHERF
NHERF1
SLC9A3 regulator 1
BBS16
Bardet-Biedl syndrome 16
CCCAP
NPHP10
NY-CO-8
SLSN7
Senior-Loken syndrome 7
centrosomal colon cancer autoantigen protein
nephrocystin 10
serologically defined colon cancer antigen 8
CAMOS
KIAA0211
zinc finger protein 592
IND1
huInd1
iron-sulfur protein required for NADH dehydrogenase
nucleotide binding protein like
H17
FAD dependent oxidoreductase domain containing 1
CSNB1D
KIAA0702
NCKX
NCKX1
RODX
solute carrier family 24 member 1
CORD15
KIAA1775
RP65
cadherin related family member 1
HUMZD58C02
SREC-II
SREC2
scavenger receptor class F member 2
CRIM3
Cv2
crossveinless-2
BMP binding endothelial regulator
CCAM
CPAM
Congenital cystic adenomatoid malformation of the lung
Congenital cystic adenomatous malformation of the lung
Congenital cystic disease of the lung
Congenital pulmonary airway malformation
KIAA0526
LCB2
LCB2A
hLCB2a
serine palmitoyltransferase long chain base subunit 2
DR11
HH14
KIAA1351
SRI1
WDR15
sensitization to ricin complex subunit 1
WD repeat domain 11
Conotruncal heart malformations are a group of congenital cardiac outflow tract anomalies that include such defects as tetralogy of Fallot, pulmonary atresia with ventricular septal defect, double-outlet right ventricle (DORV), double-outlet left ventricle, truncus arteriosus and transposition of the great arteries (TGA) (see these terms), among others. This group of defects is frequently found in patients with 22q11.2 deletion syndrome (see this term). A deletion of chromosome 22q11.2 has equally been associated in a subset of patients with various types of isolated non-syndromic conotruncal heart malformations (with the exception of DORV and TGA where this is very uncommon).
Conotruncal heart malformations
congenital disorder of glycosylation 1N
RFT1 homolog
AIF
apoptosis inducing factor mitochondria associated 1
DAT
dopamine transporter
solute carrier family 6 member 3
Congenital mitral malformation
BAT
glycine N-choloyltransferase
bile acid-CoA:amino acid N-acyltransferase
EMT
LYK
PSCTK2
IL2 inducible T cell kinase
CLNMT
CaM KMT
calmodulin-lysine N-methyltransferase
PP2CB
PP2CBETA
PPC2BETAX
protein phosphatase 2C, beta isoform
protein phosphatase, Mg2+/Mn2+ dependent 1B
CD210
CD210a
CDW210A
HIL-10R
interleukin 10 receptor subunit alpha
CDW210B
CRF2-4
IL-10R2
interleukin 10 receptor subunit beta
IGDCC1
NTN1R1
immunoglobulin superfamily, DCC subclass, member 1
DCC netrin 1 receptor
Mandibulofacial dysostosis with preaxial limb anomalies
NAFD
Nager acrofacial dysostosis
Preaxial acrodysostosis
Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects.
Nager syndrome
Cutaneous and mucosal venous malformation
VMCM
Mucocutaneous venous malformations (VMCMs) are hereditary vascular malformations characterized by the presence of small, multifocal, bluish-purple venous lesions involving the skin and mucosa.
Mucocutaneous venous malformations
use http://www.orpha.net/ORDO/Orphanet_88991 with label: Rare congenital non-syndromic heart malformation
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_293843 with label: 3MC syndrome
use http://www.orpha.net/ORDO/Orphanet_508410 with label: Familial intestinal malrotation
OBSOLETE: Familial intestinal malrotation-facial anomalies syndrome
Isolated polythelia
Familial supernumerary nipples is a rare breast malformation characterized by the presence, in various members of a single family, of one or more nipple(s) and/or their related tissue, in addition to the normal bilateral chest nipples. The anomaly is usually situated along the embryonic milk line, from axillae to inguinal regions, but other locations are also possible. Association with dental abnormalities, Becker nevus, renal or underlying breast tissue malignancy and genitourinary malformations has been reported.
Familial supernumerary nipples
Mandibuloacral dysplasia (MAD) is a rare genetic bone disorder characterized by growth delay, postnatal development of craniofacial anomalies including mandibular hypoplasia, progressive acral osteolysis, mottled or patchy pigmentation, skin atrophy, and partial or generalized lipodystrophy.
Mandibuloacral dysplasia
OBSOLETE: Mandibulofacial dysostosis-deafness-postaxial polydactyly syndrome
Mansonellosis
. The disease is often asymptomatic but may also cause fever, vertigo, myalgias, arthralgias and a sensation of coldness in the legs. Additional features include neuropsychiatric symptoms, skin rash, pruritus, nodules containing adult worms (in the conjunctiva or eyelids), lymphadenopathy, recurrent lymphedema in the limbs and face (resembling the Calabar swellings of loasis (see this term)), severe abdominal pain and endocrine disturbances.
Mansonelliasis
Acrofacial dysostosis, Genee-Wiedmann type
Mandibulfacial dysostosis with postaxial limb anomalies
Miller syndrome
POADS
Postaxial acrodysostosis
Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis (see this term) characterised by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital ray and ulnar hypoplasia.
Postaxial acrofacial dysostosis
Marden-Walker-like syndrome
VDEGS
Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features.
Van den Ende-Gupta syndrome
Marden-Walker syndrome (MWS) is a malformation syndrome characterized by multiple joint contractures (arthrogryposis), a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, kyphoscoliosis and arachnodactyly.
Marden-Walker syndrome
Marfanoid craniosynostosis syndrome
Shprintzen-Goldberg syndrome (SGS) is a very rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability.
Shprintzen-Goldberg syndrome
Marfanoid habitus  intellectual deficit, autosomal recessive is a very rare multiple congenital anomalies syndrome described in four sibs and characterized by intellectual deficit, flat face and some skeletelal features of Marfan syndrome (see this term) such as tall stature, dolichostenomelia, arm span larger than height, arachnodactyly of hands and feet, little subcutaneous fat, muscle hypotonia and intellectual deficit.
Marfanoid habitus-autosomal recessive intellectual disability syndrome
Marfanoid syndrome, da Silva type is characterized by the association of marfanoid habitus with visceral diverticula. It has been reported in four adults and two siblings from a consanguineous marriage in two different publications. Pediatric cases also presented with diaphragmatic hernia. Other connective tissue disorders with visceral diverticula have been reported previously, suggesting a relationship between these two conditions.
Marfanoid syndrome, De Silva type
CILD14
FAP59
coiled-coil domain containing 39
CILD15
FAP172
KIAA1640
coiled-coil domain containing 40
Intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome
MASA syndrome (Mental retardation, Aphasia, Spastic paraplegia, Adducted thumbs) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome, see this term). MASA is characterized by mild to moderate intellectual deficit, delayed development of speech, hypotonia progressing to spasticity or spastic paraplegia, adducted thumbs, and mild to moderate distension of the cerebral ventricles.
MASA syndrome
FLVCR
MFSD7B
PCA
feline leukemia virus subgroup C cellular receptor 1
MLCK
MLCK1
MYLK1
smMLCK
smooth muscle myosin light chain kinase
myosin light chain kinase
TRKC
neurotrophic receptor tyrosine kinase 3
cAMP responsive element binding protein 1
Mast cell disease
Systemic mastocytosis (SM) comprises a heterogeneous group of rare acquired and chronic hematological malignancies that are related to an abnormal proliferation of mast cells in tissue, including bone marrow, with or without skin involvement.
Systemic mastocytosis
ARVC
ARVD
Arrhythmogenic right ventricular dysplasia
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a heart muscle disease that consists in progressive dystrophy of primarily the right ventricular myocardium with fibro-fatty replacement and ventricular dilation, and that is clinically characterized by ventricular arrhythmias and a risk of sudden cardiac death.
Arrhythmogenic right ventricular cardiomyopathy
Anophthalmia-pulmonary hypoplasia syndrome
MCOPS9
Syndromic microphthalmia type 9
Matthew-Wood syndrome is a rare clinical entity including as main characteristics anophthalmia or severe microphthalmia, and pulmonary hypoplasia or aplasia.
Matthew-Wood syndrome
McDonough syndrome is a rare, multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphsim (prominent superciliary arcs, synophrys, strabismus, large, anteverted ears, large nose, malocclusion of teeth), delayed psychomotor development, intellectual disability and congenital heart defects (e.g. pulmonic stenosis, patent ductus arteriosus, atrial septal defect). Additional features include thorax deformation (pectus excavatum/carinatum), kyphoscoliosis, diastasis recti and cryptorchidism. There have been no further descriptions in the literature since 1984.
McDonough syndrome
isocitrate dehydrogenase (NADP(+)) 2, mitochondrial
CD279
PD-1
hSLE1
programmed cell death 1
BBS15
CPLANE5
ciliogenesis and planar polarity effector 5
fritz
hFrtz
WD repeat containing planar cell polarity effector
Erythroedema polyneuritis
Feer disease
Infantile acrodynia
Infantile mercury intoxication
Pink disease
Swift disease
Swift-Feer disease
Infantile mercury poisoning is a rare intoxication affecting children, most commonly characterized by erythema of the hands, feet and nose, edematous, painful, pink to red, desquamating fingers and toes, bluish, cold and wet extremities, excessive sweating, irritability, photophobia, muscle weakness, diffuse hypotonia, paresthesia, hypertension and tachycardia, due to elemental, organic or inorganic mercury exposure. Additional manifestations include alopecia, loss of appetite, excessive salivation with red and swollen gums, tooth and nail loss and insomnia.
Infantile mercury poisoning
PCCA
Progressive cerebello-cerebral atrophy
BDC
Bellini carcinoma
Bellini duct carcinoma
CDC
Collecting duct carcinoma is a rare, aggressive subtype of renal cell carcinoma, which originates from the epithelium of the distal collecting ducts, and usually manifests with hematuria, flank pain, palpable abdominal mass or nonspecific symptoms, such as fatigue, weight loss or fever. Patients are often asymptomatic for long periods of time and therefore, disease is often locally advanced or metastatic at the time of diagnosis. In cases with metastatic spread, bone pain, cough, dyspnea, pneumonia or neurological compromise may be associated.
Collecting duct carcinoma
Idiopathic late-onset cerebellar ataxia
SAOA
Sporadic adult-onset ataxia of unknown etiology describes a group of non-hereditary degenerative ataxias characterized by a slowly progressive cerebellar syndrome (with ataxia of stance and gait, upper limb dysmetria and intention tremor, ataxic speech, and oculomotor abnormalities), presenting in adulthood (at around 50 years of age), that is not due to a known cause. Extracerebellar symptoms (e.g., decreased vibration sense and absent or decreased ankle reflexes), polyneuropathy and mild autonomic dysfunction may also be present. Mild cognitive impairment has also rarely been reported.
Sporadic adult-onset ataxia of unknown etiology
Non-hereditary degenerative ataxia
Acquired ataxia
Hemosiderosis of the central nervous system
Superficial hemosiderosis of the CNS
Superficial hemosiderosis of the central nervous system
Superficial siderosis of the CNS
Superficial siderosis of the central nervous system
Superficial siderosis is a rare neurologic disease characterized by progressive sensorineural hearing loss, cerebellar ataxia, pyramidal signs, and neuroimaging findings revealing hemosiderin deposits in the spinal and cranial leptomeninges and subpial layer. The disease progresses slowly and patients may present with mild cognitive impairment, nystagmus, dysmetria, spasticity, dysdiadochokinesia, dysarthria, hyperreflexia, and Babinski signs. Additional features reported include dementia, urinary incontinence, anosmia, ageusia, and anisocoria.
Superficial siderosis
Inhalation anthrax disease
Pulmonary anthrax
Respiratory anthrax
Respiratory anthrax disease
spores (e.g. through infected animal products, bioterrorism) and characterized by an initial stage where patients present with non specific symptoms (fever, cough, chills, fatigue) that is followed by an acute phase during which hemorrhagic mediastinitis occurs that can progress into meningitis, gastrointestinal involvement, and refractory shock, that can be fatal, if left untreated.
Inhalational anthrax
Mabry syndrome
Hyperphosphatasia-intellectual disability syndrome
Hydrometrocolpos-postaxial polydactyly syndrome
Kaufman-Mckusick syndrome
McKusick-Kaufman syndrome is a very rare, genetic developmental disorder presenting in the neonatal period characterized by genitourinary malformations, polydactyly, and more rarely, congenital heart disease or gastrointestinal malformations.
GPP
Generalized pustular psoriasis is a severe inflammatory skin disease that can be life-threatening and that is characterized by recurrent episodes of high fever, fatigue, episodic erythematous cutaneous eruptions with sterile cutaneous pustules formation on various parts of the body, and neutrophil leukocytosis.
Generalized pustular psoriasis
Autosomal recessive secondary erythrocytosis not associated with VHL gene
Autosomal recessive secondary erythrocytosis, non-Chuvash type
Autosomal recessive secondary polycythemia, non-Chuvash type
Autosomal recessive secondary polycythemia not associated with VHL gene
White forelock with malformations is a multiple congenital anomalies syndrome characterized by poliosis, distinct facial features (epicanthal folds, hypertelorism, posterior rotation of ears, prominent philtrum, high-arched palate) and congenital anomalies/malformations of the eye (blue sclera), cardiopulmonary (atrial septal defect, prominent thoracic and abdominal veins), and skeletal (clinodactyly, syndactyly of the fingers and 2nd and 3rd toes) systems. There have been no further descriptions in the literature since 1980.
White forelock with malformations
Autosomal dominant secondary erythrocytosis
Autosomal dominant secondary polycythemia is a rare, genetic, hematologic disease characterized by increased levels of serum hemoglobin, hematocrit and erythrocyte mass, associated with elevated or inappropriately normal erythropoietin serum levels, occurring in various members of a family and with autosomal dominant inheritance.
Autosomal dominant secondary polycythemia
Primary ciliary dyskinesia - retinitis pigmentosa is an X-linked ciliary dysfunction of both respiratory epithelium and photoreceptors of the retina leading to ocular disorders (mild night blindness, constriction of the visual field, and scotopic and photopic ERG responses reduced to 30-60%) associated with primary ciliary dyskinesia (see this term) manifestations (chronic bronchorrhea with bronchoectasis and chronic sinusitis) and sensorineural hearing loss.
Primary ciliary dyskinesia-retinitis pigmentosa syndrome
ASS deficiency
Argininosuccinate synthase deficiency
Argininosuccinate synthetase deficiency
Argininosuccinic acid synthase deficiency
Argininosuccinic acid synthetase deficiency
Citrullinemia type 1
Classic citrullinemia
Citrullinemia type I is a rare autosomal recessive urea cycle defect characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting in the neonatal form (Acute neonatal citrullinemia type I, see this term) and by variable hyperammonemia in the later-onset form (Adult-onset citrullinemia type I, see this term).
Citrullinemia type I
Acute neonatal citrullinemia type 1
Classic citrullinemia type 1
Classic citrullinemia type I
Acute neonatal citrullinemia type I is a severe form of citrullinemia type 1 (see this term) characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting, seizures and possible loss of consciousness, within one to a few days of birth, with variable signs of increased intracranial pressure. The condition can lead to significant neurologic deficits.
Acute neonatal citrullinemia type I
Adult-onset citrullinemia type 1
Late-onset citrullinemia type 1
Late-onset citrullinemia type I
Adult-onset citrullinemia type I is a form of citrullinemia type I (see this term) characterized clinically by adult onset of symptoms including variable hyperammonemia and less striking neurological findings which may include intense headache, scotomas, migraine-like episodes, ataxia, slurred speech, lethargy and drowsiness. Serious increased intracranial pressure may occur.
Adult-onset citrullinemia type I
Citrin deficiency is a rare autosomal recessive urea cycle defect characterized clinically by recurring episodes of hyperammonemia and associated neuropsychiatric symptoms in the adult-onset form (citrullinemia type II, see this term), and by transient cholestasis and variable hepatic dysfunction in the neonatal form (neonatal intrahepatic cholestasis due to citrin deficiency, see this term).
Citrin deficiency
Adult-onset citrin deficiency
Adult-onset citrullinemia type 2
Adult-onset citrullinemia type II
CTLN2
Citrullinemia type 2
Citrullinemia type II is a severe subtype of citrin deficiency (see this term) characterized clinically by adult onset (20 and 50 years of age), recurrent episodes of hyperammonemia and associated neuropsychiatric symptoms such as nocturnal delirium, confusion, restlessness, disorientation, drowsiness, memory loss, abnormal behavior (aggression, irritability, and hyperactivity), seizures, and coma.
Citrullinemia type II
NICCD
Neonatal intrahepatic cholestasis caused by citrin deficiency
Neonatal intrahepatic cholestasis due to citrin deficiency is a mild subtype of citrin deficiency (see this term) characterized clinically by low birth weight, failure to thrive, transient intrahepatic cholestasis, multiple aminoacidemia, galactosemia, hypoproteinemia, hepatomegaly, decreased coagulation factors, hemolytic anemia, variable but mostly mild liver dysfunction, and hypoglycemia.
Neonatal intrahepatic cholestasis due to citrin deficiency
Medeira-Dennis-Donnai syndrome
Dysraphism-cleft lip/palate-limb reduction defects syndrome
JPLS
Juvenile PLS
Juvenile primary lateral sclerosis (JPLS) is a very rare motor neuron disease characterized by progressive upper motor neuron dysfunction leading to loss of the ability to walk with wheelchair dependence, and subsequently, loss of motor speech production.
Juvenile primary lateral sclerosis
Perinatal lethal Rathburn disease
Perinatal lethal phosphoethanolaminuria
due to reduced activity of serum alkaline phosphatase (ALP) and causing stillbirth or respiratory failure within days of birth.
Perinatal lethal hypophosphatasia
Prenatal benign Rathburn disease
Prenatal benign phosphoethanolaminuria
Prenatal benign hypophosphatasia (PB-HPP) is a very rare form of hypophosphatasia (see this term) characterized by prenatal skeletal manifestations (limb shortening and bowing) that slowly resolve spontaneously and later develop into the milder infantile, childhood or adult forms of the disease.
Prenatal benign hypophosphatasia
Infantile Rathburn disease
Infantile phosphoethanolaminuria
Infantile hypophosphatasia (I-HPP) is a very rare, severe form of hypophosphatasia (see this term) characterized by infantile rickets without elevated serum alkaline phosphatase (ALP) activity and a wide range of clinical manifestations due to hypomineralization.
Infantile hypophosphatasia
Childhood-onset Rathburn disease
Childhood-onset phosphoethanolaminuria
Childhood-onset hypophosphatasia is a rare, mildform of hypophosphatasia (see this term) characterized by onset after six months of age and widely variable clinical features from low bone mineral density for age, to unexplained fractures,skeletal deformities,and rickets with short stature and waddling gait.
Childhood-onset hypophosphatasia
Adult Rathburn disease
Adult phosphoethanolaminuria
Adult hypophosphatasia (A-HPP) is a mildform of hypophosphatasia (see this term) characterized by osteomalacia,chondrocalcinosis, osteoarthropathy, stress fractures duringmiddle age, and dental anomalies.
Adult hypophosphatasia
Odontohypophosphatasia (odonto-HPP) is the least severe form of hypophosphatasia (see this term) characterized by premature exfoliation of primary and/or permanent teeth and/or severe dental caries, in the absence of skeletal system abnormalities.
Odontohypophosphatasia
RVCL
RVCL-S
Retinal vasculopathy and cerebral leukoencephalopathy
Retinal vasculopathy and cerebral leukodystrophy (RVCL) is an inherited group of small vessel diseases comprised of cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HRV) and hereditary endotheliopathy with retinopathy, nephropathy and stroke (HERNS; see these terms); all exhibiting progressive visual impairment as well as variable cerebral dysfunction.
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
MEN2A
PTC syndrome
Sipple syndrome
Multiple endocrine neoplasia 2A (MEN2A) syndrome is a form of MEN2 (see this term) characterized by medullary thyroid carcinoma (MTC; see this term) in combination with pheochromocytoma (see this term) and primary mild hyperparathyroidism resulting from hyperplasia or adenoma of the parathyroid cells.
Multiple endocrine neoplasia type 2A
Macroencephaly
Megalencephaly
MEN2B
Multiple endocrine neoplasia type 3
Wagenmann-Froboese syndrome
Multiple endocrine neoplasia 2B (MEN2B) syndrome is a rare aggressive form of MEN2 (see this term) characterized by medullary thyroid carcinoma (MTC, see this term), pheochromocytoma (see this term), mucosal ganglioneuroma, and marfanoid habitus.
Multiple endocrine neoplasia type 2B
IMAM
Inflammatory myopathy with abundant macrophages is a rare inflammatory myopathy characterized by diffuse destructive infiltration of CD68+ macrophages into the fascia rather than muscle fibers in muscle biopsies, proximal muscle weakness and myalgia with or without scaly dermatomyositis-like or atypical non-dermatomyositis-like skin lesions, elevation of creatine kinase levels and thickening of muscle fascia in muscle MRI.
Inflammatory myopathy with abundant macrophages
Idiopathic eosinophilia-associated myopathy
Idiopathic eosinophilic myositis is a rare skeletal muscle disease characterized by eosinophilic infiltration and inflammatory lesions of the skeletal muscle tissue, in the absence of an identifiable causative factor (e.g. parasitic infection, drug intake, systemic or malignant disease). Clinically patients may present focal or generalized muscle weakness and pain, difficulties to walk, motor clumsiness and/or mild bilateral aquilae retraction, as well as elevated serum creatine kinase levels and peripheral blood and/or bone marrow hypereosinophilia.
Idiopathic eosinophilic myositis
Lipoblastoma
X-linked cerebellar ataxia
Müllerian duct failure and hyperandrogenism
WNT4 deficiency
Müllerian aplasia and hyperandrogenism
Congenital absence of uterus and vagina
MRKH syndrome type 1
Rokitansky sequence
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1, a form of MRKH syndrome (see this term), is an isolated form of congenital aplasia of the uterus and 2/3 of the vagina occurring in otherwise phenotypically normal females.
Mayer-Rokitansky-Küster-Hauser syndrome type 1
FTH1-associated iron overload
FTH1-related iron overload
Juvenile cataract - microcornea - renal glucosuria is an extremely rare autosomal dominant association reported in a single Swiss family and characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects.
Juvenile cataract-microcornea-renal glucosuria syndrome
MUTYH-related AFAP
MUTYH-related attenuated FAP
MUTYH-related attenuated familial polyposis coli
MUTYH-related attenuated familial adenomatous polyposis
Megalencephalic leukodystrophy
Megalencephaly-cystic leukodystrophy syndrome
Vacuolating megalencephalic leukoencephalopathy with subcortical cysts
Van der Knaap syndrome
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a form of leukodystrophy that is characterized by infantile-onset macrocephaly, often with mild neurologic signs at presentation (such as mild motor delay), which worsen with time, leading to poor ambulation, falls, ataxia, spasticity, increasing seizures and cognitive decline. Brain magnetic resonance imaging reveals diffusely abnormal and mildly swollen white matter as well as subcortical cysts in the anterior temporal and frontoparietal regions.
Megalencephalic leukoencephalopathy with subcortical cysts
APC-related AFAP
APC-related attenuated FAP
APC-related attenuated familial polyposis coli
APC-related attenuated familial adenomatous polyposis
Mild peroxismal disorder due to PEX10 deficiency
Autosomal recessive ataxia due to PEX10 deficiency
EDSS
EDSS1
Ectodermal dysplasia-syndactyly syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse to absent scalp hair, eyebrows, and eyelashes (with pili torti when present), widely spaced, conical-shaped teeth with peg-shaped, conical crowns and enamel hypoplasia and palmoplantar hyperkeratosis, associated with partial cutaneous syndactyly in hands and feet.
Ectodermal dysplasia-syndactyly syndrome
EDCS
EDSS2
Ectodermal dysplasia-cutaneous syndactyly syndrome
OCMD
OMD
Occult macular dystrophy is a rare, genetic retinal dystrophy disease characterized by bilateral progressive decline of visual acuity, due to retinal dysfunction confined only to the macula, associated with normal fundus and fluorescein angiograms and severly attenuated focal macular and multifocal electroretinograms.
Occult macular dystrophy
Oligoarticular JIA with anti-nuclear antibodies
Pauciarticular chronic arthritis with anti-nuclear antibodies
Oligoarticular juvenile idiopathic arthritis with anti-nuclear antibodies
Oligoarticular JIA without anti-nuclear antibodies
Pauciarticular chronic arthritis without anti-nuclear antibodies
Oligoarticular juvenile idiopathic arthritis without anti-nuclear antibodies
Juvenile rheumatoid factor-negative polyarthritis with anti-nuclear antibodies
Polyarthritis without rheumatoid factor with anti-nuclear antibodies
Rheumatoid factor-negative JIA with anti-nuclear antibodies
Rheumatoid factor-negative juvenile idiopathic arthritis with anti-nuclear antibodies
Juvenile rheumatoid factor-negative polyarthritis without anti-nuclear antibodies
Polyarthritis without rheumatoid factor without anti-nuclear antibodies
Rheumatoid factor-negative JIA without anti-nuclear antibodies
Rheumatoid factor-negative juvenile idiopathic arthritis without anti-nuclear antibodies
FCAS2
Familial cold autoinflammatory syndrome type 2
NAPS12
NLRP12-associated hereditary periodic fever syndrome is a rare autoinflammatory syndrome characterized by episodic and recurrent periods of fever combined with various systemic manifestations such as myalgia, arthralgia, joint swelling, urticaria, headache and skin rash. Common trigger of these episodes is cold.
NLRP12-associated hereditary periodic fever syndrome
OBSOLETE: Vitiligo-associated autoimmune disease
MMR syndrome
Neuhäuser syndrome
Megalocornea-intellectual disability syndrome is a rare intellectual disability syndrome most commonly characterized by megalocornea, congenital hypotonia, varying degrees of intellectual disability, psychomotor/developmental delay, seizures, and mild facial dysmorphism (including round face, frontal bossing, antimongoloid slant of the eyes, epicanthal folds, large low set ears, broad nasal base, anteverted nostrils, and long upper lip). Interfamilial and intrafamilial clinical variability has been reported.
Megalocornea-intellectual disability syndrome
AR-HED
Autosomal recessive anhidrotic ectodermal dysplasia
Autosomal recessive hypohidrotic ectodermal dysplasia
Idiopathic hypertrophic osteoarthropathy
PHO
Primary hypertrophic osteoarthropathy (PHO) is a genetically and clinically heterogeneous inherited disorder characterized by digital clubbing and osteoarthropathy, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease. There are two types of PHO: pachydermoperiostosis and cranio-osteoarthropathy (see these terms).
Primary hypertrophic osteoarthropathy
NCM
Neurocutaneous melanosis
Neurocutaneous melanocytosis (NCM) is a rare congenital neurological disorder characterized by abnormal aggregations of nevomelanocytes within the central nervous system (leptomeningeal melanocytosis) associated with large or giant congenital melanocytic nevi (CMN; see this term). NCM can be asymptomatic or present as variably severe and progressive neurological impairment, sometimes resulting in death.
Neurocutaneous melanocytosis
JHD
Juvenile Huntington chorea
Juvenile Huntington disease (JHD) is a form of Huntington disease (HD; see this term), characterized by onset of signs and symptoms before 20 years of age.
Juvenile Huntington disease
Melhem-Fahl syndrome was described in two siblings born to consanguineous parents in 1985 and was characterized by the presence of 15 dorsal vertebrae and rib pairs. No other cases have been documented since the initial report.
Melhem-Fahl syndrome
JNK3
p54bSAPK
mitogen-activated protein kinase 10
Rare deficiency anemia
Constitutional deficiency anemia
The Melkersson-Rosenthal syndrome is a rare disorder characterized by a triad of recurrent orofacial swelling, relapsing facial paralysis and fissured tongue and onset in childhood or early adolescence. It has an estimated incidence of 8/10,000. The etiology is unknown but hereditary predisposition is suspected.
Melkersson-Rosenthal syndrome
Rare acquired deficiency anemia
use http://www.orpha.net/ORDO/Orphanet_98372 with label: Hemolytic anemia due to a disorder of glycolytic enzymes
OBSOLETE: Hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency
Rare bleeding disorder
Rare coagulopathy
Rare hemorrhagic disorder
Rare bleeding disorder due to a coagulation factors defect
Rare coagulopathy due to a coagulation factor defect
Rare hemorrhagic disorder due to a coagulation factors defect
Rare bleeding disorder due to a platelet anomaly
Rare bleeding disorder due to a thrombopathy and/or thrombocytopenia
Rare coagulopathy due to a platelet anomaly
Rare coagulopathy due to a thrombopathy and/or thrombocytopenia
Rare hemorrhagic disorder due to a thrombopathy and/or thrombocytopenia
Rare hemorrhagic disorder due to a platelet anomaly
Isolated delta-SPD
Isolated dense-SPD
Isolated dense-storage pool disease
Isolated delta-storage pool disease is a rare, isolated, constitutional thrombocytopenia disorder characterized by defective formation and/or malfunction of platelet dense granules, as well as melanosomes in skin cells, resulting in variable manifestations ranging from mild bleeding and easy bruising to moderate mucous/cutaneous hemorrhagic diathesis and bleeding complications after surgery.
Isolated delta-storage pool disease
Rare bleeding disorder due to an acquired platelet anomaly
Rare bleeding disorder due to an acquired thrombopathy and/or thrombocytopenia
Rare coagulopathy due to an acquired platelet anomaly
Rare coagulopathy due to an acquired thrombopathy and/or thrombocytopenia
Rare hemorrhagic disorder due to an acquired thrombopathy and/or thrombocytopenia
Rare hemorrhagic disorder due to an acquired platelet anomaly
Rare thrombotic disorder due to a coagulation factors defect
Rare thrombotic disorder due to a constitutional coagulation factors defect
Rare thrombotic disorder due to an acquired coagulation factors defect
Rare thrombotic disorder due to a platelet anomaly
Melnick-Needles osteodysplasty
Melnick-Needles syndrome (MNS) belongs to the otopalatodigital syndrome spectrum disorder and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems.
Melnick-Needles syndrome
Rare thrombotic disorder due to a constitutional platelet anomaly
Rare thrombotic disorder due to an acquired platelet anomaly
Familial hypodysfibrinogenemia
HD6
JM21
KIAA0901
PPP1R90
protein phosphatase 1, regulatory subunit 90
histone deacetylase 6
BABL
LIPO
high mobility group AT-hook 2
Melorheostosis is a rare connective tissue disorder characterized by a sclerosing bone dysplasia, usually limited to one side of the body (rarely bilateral), that manifests with pain, stiffness, joint contractures and deformities.
Melorheostosis
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_221061 with label: Familial cerebral cavernous malformation
Transverse limb deficiency-hemangioma syndrome
Fried-Goldberg-Mundel syndrome
Lower limb malformation-hypospadias syndrome is a rare developmental defect during embryogenesis characterized by severe, uni- or bilateral lower limb malformations (incl. tibial hypoplasia, split and rocker bottom-shaped feet, and oligosyndactyly), normal upper limbs and hypospadias. Additional dysmorphic features (e.g. short neck and low-set, large ears), atrial septal defect, ureteropelvic junction stenosis and slight septation of the spleen, have also been reported. There have been no further descriptions in the literature since 1977.
Lower limb malformation-hypospadias syndrome
Upper limb defect - eye and ear abnormalities syndrome associates upper limb defects (hypoplastic thumb with hypoplasia of the metacarpal bone and phalanges and delayed bone maturation), developmental delay, central hearing loss, unilateral poorly developed antihelix, bilateral choroid coloboma and growth retardation.
Upper limb defect-eye and ear abnormalities syndrome
Fibrous dysplasia of bone is a congenital non-hereditary benign bone disease, where normal bone is replaced by a fibrous-like tissue with immature osteogenesis.
Fibrous dysplasia of bone
Mullerian duct anomalies-limb anomalies syndrome is characterised by the association of mullerian duct and distal limb anomalies. It has been described in five individuals from one family. Females presented with anomalies ranging from a vaginal septum to complete duplication of uterus and vagina, and males presented with micropenis. The limb anomalies varied from postaxial polydactyly to severe upper limb hypoplasia with split hand. The mode of transmission is autosomal dominant.
Müllerian duct anomalies-limb anomalies syndrome
Fibular aplasia-tibial campomelia-oligosyndactyly syndrome
Hecht-Scott syndrome
Limb transversal defect-cardiac anomaly syndrome
FATCO syndrome
Giant hypertrophic gastritis
Hypoproteinemic hypertrophic gastropathy
Ménétrier disease (MD) is a rare premalignant hyperproliferative gastropathy characterized by massive overgrowth of foveolar cells in the gastric lining, resulting in large gastric folds, and manifesting with epigastric pain, nausea, vomiting, peripheral edema and, less commonly, anorexia and weight loss.
Ménétrier disease
Meningioma is a mostly benign primary tumor of the meninges (arachnoid cap cells), usually located in the supratentorial compartment, commonly appearing in the sixth and seventh decade of life, clinically silent in most cases or causing hyperostosis close to the tumor and resulting in focal bulging and localized pain in less than 10% of cases. Additional features may include headache, seizures, gradual personality changes (apathy and dementia), anosmia, impaired vision, exophthalmos, hearing loss, ataxia, dysmetria, hypotonia, nystagmus, and rarely spontaneous bleeding.
Meningioma
8q13 microdeletion syndrome
Del(8)q(13)
Mesomelia-synostoses syndrome, Verloes-David-Pfeiffer type
Mesomelic dysplasia with acral synostoses, Verloes-David-Pfeiffer type
Monosomy 8q13
Verloes-David syndrome
Mesomelia-Synostoses syndrome (MSS) is a syndromal osteochondrodysplasia due to a contiguous gene deletion syndrome, characterized by progressive bowing of forearms and forelegs leading to mesomelia, progressive intracarpal or intratarsal bone fusion and fusion of metacarpal bones with proximal phalanges, ptosis, hypertelorism, abnormal soft palate, congenital heart defect, and ureteral anomalies.
Mesomelia-synostoses syndrome
Fryns-Hofkens-Fabry syndrome
Ulna hypoplasia
This syndrome is an isolated upper limb mesomelic dysplasia. It has been described in four patients from two unrelated families (a man and his daughter, and a Lebanese man and his son). Patients present with ulnar hypoplasia with severe radial bowing, but normal stature. The mode of transmission is likely to be autosomal dominant with variable expressivity.
Upper limb mesomelic dysplasia
Fusion of metacarpals 4 and 5
Syndactyly type 8 is a rare, genetic, non-syndromic, congenital limb malformation characterized by unilateral or bilateral fusion of the fourth and fifth metacarpals with no other associated abnomalities. Patients present shortened fourth and fifth metacarpals with excessive separation between their distal ends, resulting in marked ulnar deviation of the little finger and an inability to bring the fifth finger in parallel with the other fingers.
Syndactyly type 8
Metachondromatosis (MC) is a rare disorder characterized by the presence of both multiple enchondromas and osteochondroma-like lesions.
Metachondromatosis
GA1
GCDHD
Glutaric acidemia type 1
Glutaric aciduria type 1
Glutaryl-coenzyme A dehydrogenase deficiency
Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder.
Glutaryl-CoA dehydrogenase deficiency
Median cleft face syndrome
Frontonasal dysplasia or median cleft syndrome describes an array of abnormalities affecting the eyes, forehead and nose and linked to midfacial dysraphia.
Frontonasal dysplasia
Acrogeria, Gottron type
Acrometageria
Gottron syndrome
Acrogeria
Metaphyseal chondrodysplasia, Spahr type
Genetic polycythemia
MGC9850
RPA16
RPA9
RPAC2
RPO1-3
RNA polymerase I and III subunit D
IAP
MRX95
OST3B
oligosaccharyltransferase 3 homolog B (S. cerevisiae)
magnesium transporter 1
growth differentiation factor 3
RPA39
RPA40
RPA5
RPAC1
RNA polymerase I and III subunit C
Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome is characterised by metaphyseal dysplasia, short-limb dwarfism, mild intellectual deficit and conductive hearing loss, associated with repeated episodes of otitis media in childhood. It has been described in three brothers born to consanguineous Sicilian parents. Variable manifestations included hyperopia and strabismus. The mode of inheritance is autosomal recessive.
Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome
Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome is characterized by metaphyseal dysplasia associated with short stature and facial dysmorphism (a beaked nose, short philtrum, thin lips, maxillary hypoplasia, dystrophic yellowish teeth) and acral anomalies (short fifth metacarpals and/or short middle phalanges of fingers two and five). It has been described in several members spanning four generations of a French-Canadian family. The syndrome is likely to be transmitted as an autosomal dominant trait.
Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome
CCSF
Circumferential skin creases, Kunze type
Congenital circumferential skin folds
Kunze-Riehm syndrome
Multiple benign circumferential skin creases on limbs
ACC-abnormal genitalia syndrome
Microcephaly-corpus callosum agenesis-abnormal genitalia syndrome
Proud syndrome
Proud-Levine-Carpenter syndrome
Corpus callosum agenesis-abnormal genitalia syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by agenesis of the corpus callosum, mild to severe neurological manifestations (intellectual disability, developmental delay, epilepsy, dystonia), and urogenital anomalies (hypospadias, cryptorchidism, renal dysplasia, ambiguous genitalia). Additionally, skeletal anomalies (limb contractures, scoliosis), dysmorphic facial features (prominent supraorbital ridges, synophris, large eyes) and optic atrophy have been observed.
Corpus callosum agenesis-abnormal genitalia syndrome
LPA
Logopenic primary progressive aphasia
Logopenic variant PPA
Logopenic progressive aphasia (lv-PPA) is a form of primary progressive aphasia (PPA; see this term), characterized by impaired single-word retrieval and naming and impaired repetition with spared single-word comprehension and object knowledge.
Logopenic progressive aphasia
Rare tumoral disease
Rare neoplastic disease
Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris.
Isolated aniridia
Autosomal dominant optic atrophy and peripheral neuropathy (ADOAPN) is a form of autosomal dominant optic atrophy (ADOA, see this term), characterized by progressive and isolated visual loss in the first decade of life, decreased reflexes in the lower limbs and a mild cerebellar stance.
Autosomal dominant optic atrophy and peripheral neuropathy
Polymicrogyria with optic nerve hypoplasia is a rare genetic syndrome with central nervous system malformations characterized by severe developmental delay, neonatal hypotonia, seizures, optic nerve hypoplasia and distinct central nervous system malformations including extensive bilateral polymicrogyria, dysplastic or absent corpus callosum and malformed brainstem with loss of demarcation of the pontomedullary junction.
Polymicrogyria with optic nerve hypoplasia
5-amino-4-imidazole carboxamide ribosiduria
ATIC deficiency
AICA-ribosiduria is an extremely severe inborn error of purine biosynthesis characterized clinically in the single reported case to date by profound intellectual deficit, epilepsy, dysmorphic features of the knees, elbows, and shoulders and congenital blindness.
AICA-ribosiduria
gene, and like other dominantly inherited forms of the disease manifesting with opthalmological (myopia, retinal detachment and cataracts), orofacial (micrognathia, midface hypoplasia and cleft palate) auditory (sensorineural hearing loss) and articular (epiphyseal dysplasia) symptoms
Autosomal recessive Stickler syndrome
Del(1)(q21)
Monosomy 1q21.1
1q21.1 microdeletion syndrome is a newly described recurrent deletion syndrome with variable clinical manifestations but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome.
1q21.1 microdeletion syndrome
Trisomy 1q21.1
1q21.1 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy with incomplete penetrance and variable expression characterized by macrocephaly, developmental delay, intellectual disability, psychiatric disturbances (autism spectrum disorder, attention deficit hyperactivity disorder, schizophrenia, mood disorders) and mild facial dysmorphism (high forehead, hypertelorism). Other associated features include congenital heart defects, hypotonia, short stature, scoliosis.
1q21.1 microduplication syndrome
1q41-q42 microdeletion syndrome
Del(1)(q41q42)
Monosomy 1q41-q42
Monosomy 1q41q42
1q41q42 microdeletion syndrome is a chromosomal anomaly characterized by a severe developmental delay and/or intellectual disability, typical facial dysmorphic features, brain anomalies, seizures, cleft palate, clubfeet, nail hypoplasia and congenital heart disease.
1q41q42 microdeletion syndrome
EDM
Polyepiphyseal dysplasia
Multiple epiphyseal dysplasias (MED/EDMs) are characterized by epiphyseal anomalies causing joint pain early in life, recurrent osteochondritis and early arthrosis. The EDMs are a heterogeneous group of diseases with variable expression classed as MED/EDMs 1-6.
Multiple epiphyseal dysplasia
WARBM
Warburg micro syndrome
Micro syndrome is an autosomal recessive disorder caracterised by ocular and neurodevelopmental defects and by microgenitalia. It presents with severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism.
Micro syndrome
UPD(1)pat
Paternal uniparental disomy of chromosome 1 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier.
Paternal uniparental disomy of chromosome 1
UPD(1)mat
Maternal uniparental disomy of chromosome 1 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.
Maternal uniparental disomy of chromosome 1
Monosomy 2q31.1
2q31.1 microdeletion syndrome is a well-defined and clinically recognisable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects.
2q31.1 microdeletion syndrome
2q32-q33 microdeletion syndrome
Del(2)(q32)
Del(2)(q32q33)
Monosomy 2q32
Monosomy 2q32-q33
Monosomy 2q32q33
2q32q33 microdeletion syndrome is a recently described syndrome characterized by a variable phenotype involving moderate to severe intellectual deficit, significant speech delay, persistent feeding difficulties, growth retardation and dysmorphic features.
2q32q33 microdeletion syndrome
Monosomy 2q33.1
2q33.1 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 2, with a highly variable phenotype typically characterized by severe intellectual disability, moderate to severe developmental delay (particularly speech), feeding difficulties, failure to thrive, hypotonia, thin, sparse hair, various dental abnormalities and cleft/high-arched palate. Typical dysmorphic features inlcude high, prominent forehead, down-slanting palpebral fissures and prominent nasal bridge with beaked nose. Various behavioral problems (e.g. hyperactivity, chaotic/repetitive behavior, touch avoidance) are also associated.
2q33.1 microdeletion syndrome
Trisomy 3q29
3q29 microduplications are recently described chromosomal abnormalities with unclear clinical significance.
3q29 microduplication syndrome
Ring 5
Ring chromosome 5
Ring chromosome 5 syndrome is a rare chromosomal anomaly syndrome, with high phenotypic variability, principally characterized by a neonatal mewing cry, severe developmental delay and intellectual disability, short stature, hypotonia, dysmorphic features (incl. microcephaly, facial asymmetry, hypertelorism, epicanthal folds, abnormal ears, micro/retrognathia), congenital cardiac anomalies (such as atrial and ventricular septal defect, tricuspid insufficiency, hypoplastic aorta) and skeletal abnormalities (e.g. hypoplastic thumbs, anomalous ulna/radius, dysplastic metacarpals and phalanges).
Ring chromosome 5 syndrome
Del(6)(p22)
Monosomy 6p22
6p22 microdeletion syndrome is a newly described syndrome associated with a variable clinical phenotype including developmental delay, facial dysmorphism, short neck and diverse malformations.
6p22 microdeletion syndrome
Del(6)(q25)
Monosomy 6q25
6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss.
6q25 microdeletion syndrome
Del(7)(q31)
Monosomy 7q31
7q31 microdeletion syndrome is a rare chromosomal anomaly characterized by speech and language disorder, predominantly presenting as an apraxia of speech, sometimes associated with oral motor dyspraxia, dysarthria, receptive and expressive language disorder, and hearing loss. Individuals with larger deletions in this region have also been reported to display intellectual disability and autism.
7q31 microdeletion syndrome
Monosomy 8p11.2
8p11.2 deletion syndrome is a contiguous gene syndrome characterized by the association of congenital spherocytosis, dysmorphic features, growth delay and hypogonadotropic hypogonadism.
8p11.2 deletion syndrome
Monosomy 8p23.1
8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects.
8p23.1 microdeletion syndrome
Trisomy 8p23.1
8p23.1 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with a highly variable phenotype, principally characterized by mild to moderate developmental delay, intellectual disability, mild facial dysmorphism (incl. prominent forehead, arched eyebrows, broad nasal bridge, upturned nares, cleft lip and/or palate) and congenital cardiac anomalies (e.g., atrioventricular septal defect). Other reported features include macrocephaly, behavioral abnormalities (e.g., attention deficit disorder), seizures, hypotonia and ocular and digital anomalies (poly/syndactyly).
8p23.1 duplication syndrome
Richieri Costa-Guion Almeida-Ramos syndrome
Microbrachycephaly-ptosis-cleft lip syndrome is characterised by the association of intellectual deficit, microbrachycephaly, hypotelorism, palpebral ptosis, a thin/long face, cleft lip, and anomalies of the lumbar vertebra, sacrum and pelvis. It has been described in two Brazilian sisters. Transmission appears to be autosomal recessive.
Microbrachycephaly-ptosis-cleft lip syndrome
MCPH
Microcephalia vera
Microcephaly vera
True microcephaly
Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment.
Autosomal recessive primary microcephaly
Osteochondritis dissecans and short stature
Familial osteochondritis dissecans is a rare genetic skeletal disorder characterized clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence.
Familial osteochondritis dissecans
SLA
SLA/LP
soluble liver antigen/liver pancreas antigen
Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase
FH-III
Familial hyperaldosteronism type 3
Familial hyperaldosteronism type III (FH-III) is a rare heritable form of primary aldosteronism (PA) that is characterized by early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, overproduction of 18-oxocortisol and 18-hydroxycortisol, and profound hypokalemia.
Familial hyperaldosteronism type III
Nanophtalmos-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome
Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome is a rare, genetic, non-syndromic developmental defect of the eye disorder characterized by the association of posterior microphthalmia, retinal dystrophy compatible with retinitis pigmentosa, localized foveal schisis and optic disc drusen. Patients present high hyperopia, usually adult-onset progressive nyctalopia and reduced visual acuity, and, on occasion, acute-angle glaucoma.
Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome
SPAX1
Autosomal dominant spastic ataxia type 1
Benign concentric annular macular dystrophy (BCAMD) is a progressive autosomal dominant macular dystrophy characterized by parafoveal hypopigmentation followed by a retinitis pigmentosa-like phenotype (nyctalopia and peripheral vision loss) with a bulls eye configuration.
Benign concentric annular macular dystrophy
Parietal foramina with cleidocranial dysplasia
Parietal foramina with clavicular hypoplasia is a rare genetic bone development disorder characterized by parietal foramina in association with hypoplasia of the clavicles (short abnormal clavicles with tapering lateral ends, with or without loss of the acromion). Additional features may include mild craniofacial dysmorphism (macrocephaly, broad forehead and frontal bossing). No dental abnormalities were reported.
Parietal foramina with clavicular hypoplasia
PPRCA
Pigmented paravenous retinochoroidal atrophy (PPRCA) is a rare, commonly bilateral and symmetric retinal disease characterized by non-progressive or slowly progressive chorioretinal atrophy, peripapillary pigmentary changes and accumulation of ''bone-corpuscle'' pigmentation along the retinal veins and which is usually asymptomatic or can present with mild blurred vision.
Pigmented paravenous retinochoroidal atrophy
Castro Gago-Pombo-Novo syndrome
Microcephaly - albinism - digital anomalies syndrome is a very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe.
Microcephaly-albinism-digital anomalies syndrome
Infantile onset panniculitis with uveitis and systemic granulomatosis is a rare granulomatous autoinflammatroy disease characterized by infantile-onset, widespread, chronic, recurrent, progressive, lobular panniculitis associated with panuveitis, arthritis and severe systemic granulomatous inflammation.
Infantile onset panniculitis with uveitis and systemic granulomatosis
Idiopathic relapsing pericarditis
Idiopathic recurrent pericarditis is a rare autoinflammatory syndrome defined as recurrence of pericardial inflammation of unknown origin following the first episode of acute pericarditis and a symptom-free interval of 4-6 weeks or longer. Recurrent attacks of chest pain may be the sole presentation or the chest pain may be accompanied by pericardial friction rub, electrocardiographic or echocardiographic changes, pericardial effusion and increased C-reactive protein. Cardiac tamponade is a rare, life-threatening complication.
Idiopathic recurrent pericarditis
Overlapping connective tissue disease
use http://www.orpha.net/ORDO/Orphanet_90002 with label: Undifferentiated connective tissue syndrome
OBSOLETE: Unclassified overlapping connective tissue disease
Drug-induced vasculitis
Unclassified vasculitis
Unexplained long-lasting fever/inflammatory syndrome
Ataxia-telangiectasia-like disorder
Double heterozygotes sickling disorder
Sickle cell disease associated with an other hemoglobin anomaly
HbS-beta-thalassemia syndrome
Sickle cell-beta-thalassemia disease syndrome
HbSC disease
Sickle cell-hemoglobin C disease syndrome
HbSD disease
Sickle cell-hemoglobin D disease syndrome
HbSE disease
Sickle cell-hemoglobin E disease syndrome
HPFH-sickle cell disease syndrome
Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome
CK syndrome is a rare, genetic, X-linked syndromic intellectual disability disorder characterized by mild to severe intellectual disability, infancy-onset seizures, post-natal microcephaly, cerebral cortical malformations, dysmorphic facial features (including long, narrow face, almond-shaped palpebral fissures, epicanthic folds, high nasal bridge, malar flattening, posteriorly rotated ears, high arched palate, crowded teeth, micrognathia) and thin body habitus. Long and slim fingers/toes, strabismus, hypotonia, spasticity, optic disc atrophy, and behavioral problems (aggression, attention deficit hyperactivity disorder and irritability) are additional features.
CK syndrome
JEB-nH loc
Junctional epidermolysis bullosa, localized non-Herlitz-type is a form of non-Herlitz junctional epidermolysis bullosa (JEB-nH, see this term) characterized by localized blistering, and dystrophic or absent nails.
Localized junctional epidermolysis bullosa, non-Herlitz type
Autosomal dominant primary microcephaly is a rare, genetic, non-syndromic, developmental defect during embryogenesis malformation syndrome characterized by a congenital, non-progressive, occipitofrontal head circumference that is 2 or more standard deviations below the mean for age, gender and ethnicity which is associated with normal brain architecture and uncomplicated by other abnormalities. Borderline to moderate intellectual disability, as well as early psychomotor delay, may or may not be associated.
Autosomal dominant primary microcephaly
Winship-Viljoen-Leary syndrome
Microcephaly-cardiomyopathy syndrome is characterised by severe intellectual deficit, microcephaly and dilated cardiomyopathy. Hand and foot anomalies have also been reported. The syndrome has been described in three individuals. Transmission is autosomal recessive.
Microcephaly-cardiomyopathy syndrome
GPI mannosyltransferase 2
phosphatidylinositol glycan anchor biosynthesis class V
46,XY PGD
46,XY partial testicular dysgenesis
46,XY partial gonadal dysgenesis (46,XY PGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a male 46,XY karyotype.
46,XY partial gonadal dysgenesis
DA10
Plantar flexion contracture
Short Achilles tendon
Short tendo calcaneus
Distal arthrogryposis type 10
Recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome
Hyperzincemia and hypercalprotectinemia is a rare inborn error of zinc metabolism characterized by recurrent infections, hepatosplenomegaly, anemia (unresponsive to iron supplementation) and chronic systemic inflammation in the presence of high plasma concentrations of zinc and calprotectin. Patients typically present dermal ulcers or other cutaneous manifestations (e.g. inflammation) and arthralgia. Severe epistaxis and spontaneous hematomas have also been reported.
Hyperzincemia and hypercalprotectinemia
Toxic or drug-related embryofetopathy
Maternal disease-related embryofetopathy
Rare tumor of neuroepithelial tissue
High-grade astrocytoma
Gliosarcoma
Giant cell glioblastoma
Gliomatosis cerebri
Anaplastic astrocytoma is a rare, high-grade, malignant glial tumor, histologically characterized by abundance of pleomorphic astrocytes and multiple mitotic figures, often associated with diffuse infiltration of the surrounding tissue, considerable edema and mass effect and involvement of the contralateral brain. Depending on the primary localization of the tumor, patients can present with signs of raised intracranial pressure (headache, vomiting, papilledema), seizures, progressive neurological deficits, and/or behavioral changes. The tumor is most commonly localized in the frontal and temporal lobes, brain stem and spinal cord.
Anaplastic astrocytoma
Low-grade astrocytoma
Diffuse astrocytoma
Protoplasmic astrocytoma
Ellis-Yale-Winter syndrome
Microcephaly - cardiac defect - lung malsegmentation syndrome is a very rare syndrome characterized by the combination of microcephaly, heart defects, renal hypoplasia, lung segmentation defects and cleft palate.
Microcephaly-cardiac defect-lung malsegmentation syndrome
Fibrillary astrocytoma
Gemistocytic astrocytoma
PXA
Pleomorphic xanthoastrocytoma
Pilocytic astrocytoma is a rare subtype of low-grade glioma of the central nervous system characterized by a well circumscribed, often cystic, brain tumor with a discrete mural nodule and long, hair-like projections that extend from the neoplastic astrocytes. Depending on the primary localization and the size of the tumor, patients can present with signs of raised intracranial pressure (headache, vomiting, papilledema), blurred vision, decreased visual acuity, ataxia and/or nystagmus, among others. It is most commonly located in the cerebellum, but ocurrence in the hypothalamus, brain stem, optic chiasma, and hemispheres has also been reported.
Pilocytic astrocytoma
Pilomyxoid astrocytoma
SEGA
Subependymal giant cell astrocytoma
Pituicytoma
Oligodendroglioma
Anaplastic oligodendroglioma
Low grade ependymoma
Ependymoma is the most frequent intramedullary tumor in adults (but accounts for only 10-12% of pediatric central nervous system tumors), and can be benign or anaplastic. Ependymoma arise from the ependymal cells of the cerebral ventricles, corticle rests and central canal of the spinal cord, and manifest with variable symptoms such headache, vomiting, seizures, focal neurological signs and loss of vision and can cause obstructive hydrocephalus in some cases.
Ependymoma
Subependymoma is a rare and slow growing type of ependymoma (see this term), often presenting in middle-aged adults, found more commonly in men than in women, usually located in the fourth and lateral ventricles and manifesting with variable symptoms including headache, nausea, and loss of balance. In some cases it can be asymptomatic. It is usually associated with a better prognosis than other forms of ependymoma.
Subependymoma
Myxopapillary ependymoma (MEPN) describes a slow growing ependymoma located almost exclusively in the conus medullaris-cauda equina-filum terminale region of the spinal cord, presenting in all age groups, and manifesting with variable symptoms such as neck pain, vomiting and unsteady gait and metastasis. It has a more aggressive disease course and is seen in the pediatric population.
Myxopapillary ependymoma
High-grade ependymoma
Anaplastic ependymoma is a rare, malignant type of ependymoma (see this term) that most often arises in the supratentorial region of the brain of children and young adults and that manifests with variable symptoms including headaches, nausea, vision impairment, memory loss and difficulty walking.
Anaplastic ependymoma
Mixed oligodendroglial and astrocytic tumor
Oligoastrocytic tumor
MOA
Mixed oligoastrocytoma
Oligoastrocytoma is a type of low-grade glioma with a mixed astrocytoma and oligodendroglioma histology, manifesting with headaches, speech and motor problems, seizures and, in some, subarachnoid haemorrhage.
Oligoastrocytoma
aMOA
Anaplastic oligoastrocytoma is a rare and aggressive glial tumor of the central nervous system, that usually presents in adults with seizures, is most often located in the cerebral hemispheres and that is associated with a very poor prognosis.
Anaplastic oligoastrocytoma
Glial tumor of neuroepithelial tissue with unknown origin
Angiocentric glioma (AG) is an extremely rare slow-growing glial neoplasm of the central nervous system, usually arising in a superficial location in the cerebrum, affecting all ages and both sexes, and characterized by intractable seizures and headaches, with most cases being cured by surgical incision alone and therefore having a good prognosis.
Angiocentric glioma
Chordoid glioma is an extremely rare glial neoplasm occurring in the region of the anterior third ventricle or hypothalamus, which is non-infiltrative and well-circumscribed and presents most frequently in middle-aged women with symptoms of memory loss and headaches and, because of its location, has a poor prognosis due to surgical morbidity.
Chordoid glioma
Astroblastoma is a very rare glial neoplasm of the central nervous system, most often with an intra-axial peripheral supratentorial location in one hemisphere of the frontal or parietal lobes and usually presenting in infants and young adults with symptoms of vomiting, loss of consciousness, epileptic seizures and headaches.
Astroblastoma
LNIR
PRR4
nectin-4
nectin cell adhesion molecule 4
DCDC4B
doublecortin domain containing 4B
RP1 like 1
Autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome
Autosomal recessive chorioretinopathy-microcephaly syndrome is a rare neuro-opthalmological disease characterized by severe microcephaly of prenatal onset (with diminutive anterior fontanelle and sutural ridging), growth retardation, global developmental delay and intellectual disability (ranging from mild to profound), dysmorphic features (sloping forehead, micro/retrognathia, prominent ears) and visual impairments (including microphthalmia to anophtalmia, generalized retinopathy or multiple punched-out retinal lesions, retinal folds with retinal detachment, optic nerve hypoplasia, strabismus, nystagmus). Brain MRI may show reduced cortical size, cerebral hemispheres, corpus callosum, pachygyria, symplified gyral folding or normal pattern. Other associated features include epilepsy and neurological deficits.
Autosomal recessive chorioretinopathy-microcephaly syndrome
Embryonal tumor of neuroepithelial tissue
Anaplastic/large cell medulloblastoma is a histological variant of medulloblastoma (see this term), an embryonic malignancy, associated with extremely low survival rates and a high risk of metastatic disease and manifesting with symptoms of increased intracranial pressure such as vomiting, headache, listlessness, papilledema and diplopia.
Anaplastic/large cell medulloblastoma
MBEN
Medulloblastoma with extensive nodularity (MBEN) is a histological variant of medulloblastoma (see this term), an embryonic malignancy, most often located in the inferior medullary velum and then growing into the fourth ventricle, and presenting in infants and young children with symptoms of increased intracranial pressure such as headache, listlessness, vomiting, diplopia and papilledema. It is often associated with Gorlin syndrome (see this term) and has a relatively good prognosis.
Medulloblastoma with extensive nodularity
Desmoplastic/nodular medulloblastoma is a histological variant of medulloblastoma (see this term), an embryonic malignancy, often located in one of the cerebellar hemispheres, occurring most frequently in adults and manifesting with symptoms such as vomiting and headache.
Desmoplastic/nodular medulloblastoma
Classic medulloblastoma is a histological variant of medulloblastoma (see this term) ,an embryonic malignancy, having a midline location, occurring most often in children and manifesting with variable symptoms such as headaches, nausea, vomiting and ataxia.
Classic medulloblastoma
CNS PNET
Central nervous system PNET
Central nervous system primitive neuroectodermal tumor
Ganglioneuroblastoma is a rare type of primitive neuroectodermal tumor (PNET; see this term), affecting almost exclusively infants and young children under the age of 10, usually occurring in the posterior mediastinum, adrenal medulla and extra-adrenal retroperitoneum (but sometimes in the neck and pelvis), with metastasis most often presenting in the bones, and characterized clinically by pain, stridor, shortness of breath, peripheral neurological signs, superior vena cava syndrome and congenital Horner syndrome (see this term), depending on the location of the tumor.
Ganglioneuroblastoma
Ependymoblastoma is a rare type of primitive neuroectodermal tumor (PNET) that usually occurs in young children under the age of 2 and is histologically distinguished by the production of ependymoblastic rosettes. It is associated with an aggressive course and a poor prognosis.
Ependymoblastoma
Medulloepithelioma of the central nervous system is a rare, primitive neuroectodermal tumor characterized by papillary, tubular and trabecular arrangements of neoplastic neuroepithelium, mimicking the embryonic neural tube, most commonly found in the periventricular region within the cerebral hemispheres, but has also been reported in brainstem and cerebellum. It usually presents in childhood with headache, nausea, vomiting, facial nerve paresis, and/or cerebellar ataxia, and typically has a progressive course, highly malignant behavior and poor prognosis. Hearing and visual loss have also been observed.
Medulloepithelioma of the central nervous system
use http://www.orpha.net/ORDO/Orphanet_99966 with label: Atypical teratoid rhabdoid tumor
OBSOLETE: Atypical teratoid/rhabdoid tumor
Choroid plexus tumor
Choroid plexus carcinoma is a rare and highly aggressive malignant type of choroid plexus tumor (see this term) occurring almost exclusively in children, presenting with cerebrospinal fluid obstruction in the lateral ventricles (most common), the fourth and third ventricles or in multiple ventricles, leading to hydrocephalus and increased intracranial pressure, and manifesting with nausea, vomiting, abnormal eye movements, gait impairment, seizures and enlarged head circumference.
Choroid plexus carcinoma
Microcephaly-seizures-intellectual disability-heart disease syndrome is characterised by intellectual deficit, a cardiac anomaly, micropenis, hypothyroidism, epileptic seizures, and skeletal anomalies. It has been described in two males.
Microcephaly-seizures-intellectual disability-heart disease syndrome
Atypical CPP
Atypical choroid plexus papilloma
Atypical papilloma of the choroid plexus is a very rare type of choroid plexus tumor (see this term) that, contrary to papilloma of the choroid plexus (see this term), has an increased likelihood of progression to carcinoma and of recurrence. It displays brisk mitoses, nuclear pleomorphism, raised cellular density, obscurity of the papillary growth pattern, and cell necrosis.
Atypical papilloma of choroid plexus
Pineal tumor of neuroepithelial tissue
Pineoblastoma is a rare, malignant type of supratentorial primitive neuroectodermal tumor (sPNET), found mainly in children (less than 10% of cases are reported in adults), and located in the pineal region of the brain but that can metastasize along the neuroaxis. As it is the most aggressive of the pineal parenchymal tumors, it is usually associated with a poor prognosis.
Pineoblastoma
Pineocytoma is the least aggressive form of pineal parenchymal tumors, manifesting with symptoms such as Parinaud's syndrome (a group of eye movement abnormalities and pupil dysfunction, including deficiency in upward-gaze and convergence-retraction nystagmus), headaches, balance impairment, urinary incontinence, and changes in mood and that are not known to disseminate in a diffuse manner. They are usually associated with a good prognosis.
Pineocytoma
PTPR
Papillary tumor of the pineal region (PTPR) is a very rare neoplasm of the pineal region that is thought to arise from the specialized ependymocytes of the subcommissural organ and that manifests with visual disturbances, headaches, loss of coordination and balance, nausea and vomiting due to obstructive hydrocephalus.
Papillary tumor of the pineal region
Pineal parenchymal tumor of intermediate differentiation (PPTID) describes a rare type of pineal parenchymal tumor (PPT) of intermediate-grade malignancy manifesting with visual disturbances, headaches, loss of coordination and balance, nausea and vomiting due to obstructive hydrocephalus, and that is classified as either grade II PPTID or grade III PPTID according to the degree of neuronal differentiation and mitotic activity.
Pineal parenchymal tumor of intermediate differenciation
Neuronal tumor
EVN
Extraventricular neurocytoma (EVN), a variant of central neurocytoma (see this term), is a rare neuronal neoplasm, composed of round cells with neuronal differentiation, which is located outside of the ventricular system, usually within the spinal cord or cerebral hemispheres and that manifests with headache, nausea, vomiting, complex partial seizures or focal neurological deficits. In some cases it may exhibit atypical features consistent with aggressive clinical behavior.
Extraventricular neurocytoma
Cerebellar liponeurocytoma (cLPN) is a rare slow growing neuronal tumor seen more frequently in females than males, occurring most commonly in the cerebellum but occasionally in the supratentorial compartment or the fourth ventricle and presenting in the 4th to 6th decade of life with symptoms of dizziness, headache and gait instability. It often has a high rate of local recurrence.
Cerebellar liponeurocytoma
Mixed neuronal-glial tumor
Gangliocytoma is a rare, mixed neuronal-glial tumor characterized by slow growth and irregular arrangement of neoplastic ganglion cells (large, multipolar dysplastic neurons) within stroma composed of non-neoplastic glial elements. Most commonly it occurs in temporal lobe, but it can be located throughout central nervous system. Clinical manifestations vary depending on the location and include seizures, increased intracranial pressure, cerebellar signs and focal neurologic deficits. Memory disturbances, cranial nerve palsies and psychiatric symptoms have also been reported.
Gangliocytoma
DIA/DIG
Desmoplastic infantile astrocytoma/ganglioglioma are mixed neuronal-glial tumors representing a histological spectrum of the same tumor. They are usually supratentorially located, large, cystic masses with a peripheral solid component, characterized by prominent desmoplastic stroma and pleomorphic populations of neoplastic cells with either astrocytic or ganglionic differentiation and poorly differentiated cells in variable proportions. They usually present in the first 18 months of age with rapid head growth, bulging anterior fontanel and bone structures over the tumor, signs of raised intracranial pressure (headache, vomiting, papilledema), focal neurological signs and sometimes seizures.
Desmoplastic infantile astrocytoma/ganglioglioma
DNET
Dysembryoplastic neuroepithelial tumor
Ganglioglioma is a rare, usually benign, well-circumscribed, often cystic, mixed neuronal-glial tumor (composed of both neoplastic glial and ganglionic elements) which is typically located in the temporal lobe and rarely invades the surrounding tissue. Patients usually present with seizures refractory to medical treatment. Association with neurofibromatosis type I and tuberous sclerosis has been reported.
Ganglioglioma
Anaplastic ganglioglioma
PGNT
Pseudopapillary ganglioglioneurocytoma
Pseudopapillary neurocytoma with glial differentiation
Papillary glioneuronal tumor
RGNT
Rosette-forming glioneuronal tumor is a rare mixed neuronal-glial tumor characterized by the presence of uniform, rosette- (or pseudorosette-) forming neurocytes with an astrocytic component, together creating a biphasic pattern. It can present with signs of raised intracranial pressure (headache, vomiting, papilledema), hydrocephalus, seizures, ataxia and visual disturbances, or can be diagnosed incidentally in asymptomatic patients. The tumor usually arises in the midline, involving the fourth ventricle or the cerebellum.
Rosette-forming glioneuronal tumor
Ganglioneuroma is a rare tumor of neuroepithelial tissue, a benign and well-differentiated tumor of neural crest origin, arising from the sympathetic nervous system and composed of ganglion cells and stromal Schwann cells. It can arise anywhere from the base of the skull to the pelvis, with the most frequent locations being the adrenal glands, retroperitoneum, posterior mediastinum and the pelvis, or, in rare cases, the central nervous system, heart, bones, intestine or other sites. It may be asymptomatic or present with various symptoms due to mass effect. Association with neurofibromatosis type I, multiple endocrine neoplasia type 2B and Turner syndrome was reported.
Ganglioneuroma
Primary germ cell tumor of CNS
Primary germ cell tumor of central nervous system
use http://www.orpha.net/ORDO/Orphanet_253 with label: Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
OBSOLETE: Spondyloepimetaphyseal dysplasia
Endodermal sinus tumor of CNS
Endodermal sinus tumor of central nervous system
Intracranial endodermal sinus tumor
Intracranial yolk sac tumor
Yolk sac tumor of CNS
Yolk sac tumor of central nervous system
Choriocarcinoma of the central nervous system
Teratoma of the central nervous system
Mixed germ cell tumor of CNS
Mixed germ cell tumor of central nervous system
Tumor of meninges
Primary melanocytic lesion of CNS
Primary melanocytic lesion of central nervous system
Primary melanocytic tumor of CNS
Primary melanocytic tumor of central nervous system
DLM
Leptomeningeal melanomatosis
Diffuse leptomeningeal melanocytosis is a rare tumor of meninges arising from leptomeningeal melanocytes, characterized by diffuse infiltration of the leptomeninges (pia mater and arachnoidea) anywhere in the central nervous system. Clinical features may include stillbirth, intracranial hypertension and hydrocephalus, seizure, ataxia, syringomyelia, cranial nerve palsy, intracranial haemorrhage, sphincter dysfunction and neuropsychiatric symptoms. Transformation into malignant melanoma of the central nervous system was reported. It may be associated with congenital nevi, as a part of neurocutaneous melanosis.
Diffuse leptomeningeal melanocytosis
Meningeal melanocytoma
Malignant melanoma of meninges
Primary melanoma of the CNS
Primary melanoma of the central nervous system is a rare tumor of meninges arising from leptomeningeal melanocytes, typically in the perimedullary or high cervical region, in the absence of melanoma outside the CNS. The tumor is typically a darkly pigmented, solid mass, often containing hemorrhagic or necrotic areas, composed of sheets of pleomorphic cells with prominent nucleoli, with frequent mitotic figures and parenchymal invasion. Intracranial tumor may present with signs of raised intracranial pressure, focal neurological symptoms related to tumor location, seizures or subarachnoid hemorrhage, spinal tumor may present with back pain, muscle weakness, numbness, plegia or urinary incontinence.
Primary melanoma of the central nervous system
Hemangioblastoma is a rare, benign, highly vascularized tumor of the central nervous system, most often located in the cerebellum or spinal cord, presenting in adulthood and manifesting with dizziness, nausea, malaise, headache, bladder or bowel dysfunction, numbness, weakness and pain in the upper or lower extremities, and often associated with von Hippel-Lindau disease (VHL; see this term). Exceptional cases of hemangioblastoma arising outside of the central nervous system have been reported.
Hemangioblastoma
Rare tumor of cranial and spinal nerves
Tumor of cranial and spinal nerves
Microcephaly-cleft palate-abnormal retinal pigmentation syndrome is a rare orofacial clefting syndrome characterized by microcephaly, cleft of the secondary palate and other variable abnormalities, including abnormal retinal pigmentation, facial dysmorphism with hypotelorism and maxillary hypoplasia. Goiter, camptodactyly, abnormal dermatoglyphics and mild intellectual disability may also be associated. There have been no further descriptions in the literature since 1983.
Microcephaly-cleft palate-abnormal retinal pigmentation syndrome
C4/C2 activating component of Ra-reactive factor
MASP
mannan binding lectin serine peptidase 1
Malignant perineurioma
Malignant peripheral nerve sheath tumor with perineurial differentiation is a rare soft tissue sarcoma composed predominantly of spindle-shaped neoplastic cells showing perineurial differentiation and displaying abundant cellular pleomorphism or anaplasia, frequent mitoses, tumor necrosis and high metastatic potential. It often presents as a soft, painless, solid mass in subcutaneous tissues of the trunk or limbs, but tumors have also been described in the facial area, mediastinum, retroperitoneum, pancreas, paravertebral column and the pelvic soft tissues. Frequent local recurrence and distant metastatic spread has been reported.
Malignant peripheral nerve sheath tumor with perineurial differentiation
BPNST
Benign peripheral nerve sheath tumor
Neurilemmoma
Neurilemoma
Peripheral fibroblastoma
Benign schwannoma
Acoustic neurilemoma
Acoustic neurinoma
Acoustic neuroma
Vestibular schwannoma is a rare tumor of the posterior fossa originating in the Schwann cells of the vestibular transitional zone of the vestibulocochlear nerve that can be benign, small, slow growing and asymptomatic or large, faster growing and aggressive and potentially fatal, presenting with symptoms of hearing and balance impairment, vertigo, ataxia, headache and fifth, sixth or seventh cranial nerve dysfunction and facial numbness.
Vestibular schwannoma
Neurofibroma
Inherited nervous system cancer-predisposing syndrome
Microcephaly-cervical spine fusion anomalies syndrome is characterized by microcephaly, facial dysmorphism (beaked nose, low-set ears, downslanting palpebral fissures, micrognathia), mild intellectual deficit, short stature, and cervical spine fusion anomalies producing spinal cord compression. It has been described in two brothers born to consanguineous parents. Transmission is likely to be autosomal recessive.
Microcephaly-cervical spine fusion anomalies syndrome
CMMR-D syndrome
Constitutional mismatch repair deficiency syndrome is a rare, inherited cancer-predisposing syndrome characterized by the development of a broad spectrum of malignancies during childhood, including mainly brain, hematological and gastrointestinal cancers, although embryonic and other tumors have also been occasionally reported. Non-neoplastic features, in particular manifestations reminiscent of neurofibromatosis type 1 (e.g., café-au-lait spots, freckling, neurofibromas), as well as premalignant and non-malignant lesions (such as adenomas/polpyps) are frequently present before malignancy development.
Constitutional mismatch repair deficiency syndrome
Melanoma-astrocytoma syndrome
Melanoma and neural system tumor syndrome is an extremely rare tumor association characterized by dual predisposition to melanoma and neural system tumors (typically astrocytoma; see this term).
Melanoma and neural system tumor syndrome
MPNST with rhabdomyosarcomatous differentiation
MTT
Malignant peripheral nerve sheath tumor with rhabdomyosarcomatous differenciation
Malignant triton tumor (MTT) is a rare aggressive subtype of malignant peripheral nerve sheath tumor (MPNST; see this term) characterized histopathologically by focal rhabdomyoblastic differentiation.
Malignant triton tumor
Franek-Bocker-Kahlen syndrome
Microcephaly-brain defect-spasticity-hypernatremia syndrome is a rare congenital genetic syndrome with a central nervous system malformation as a major feature characterized by microcephaly, hypertonia, developmental delay and cognitive impairment, swallowing difficulty, hypernatremia, and hypoplasia of the frontal parts and fusion of the lateral ventricles on brain MRI. There have been no further descriptions in the literature since 1986.
Microcephaly-brain defect-spasticity-hypernatremia syndrome
PCH2
Pontocerebellar hypoplasia type 2 (PCH2) is the most common subtype of pontocerebellar hypoplasia (see this term) characterized by neonatal onset and a lack of voluntary motor development and later progressive microencephaly, generalized clonus, development of chorea and spasticity. The majority of patients will not reach puberty.
Pontocerebellar hypoplasia type 2
complex I B8 subunit
NADH:ubiquinone oxidoreductase subunit A2
COQ1
coenzyme Q1 homolog (yeast)
decaprenyl diphosphate synthase subunit 1
MLCRD
Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is a rare autosomal dominant condition characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability.
Microcephaly-lymphedema-chorioretinopathy syndrome
Seemanova-Lesny syndrome
Microcephaly-microcornea syndrome, Seemanova type is characterised by microcephaly and brachycephaly, eye anomalies (microphthalmia, microcornea, congenital cataract), hypogenitalism, severe intellectual deficit, growth retardation and progressive spasticity. It has been described in two patients (a male and his sister's son). Both patients also presented with facial dysmorphism, including upslanting palpebral fissures, epicanthal folds, highly arched palate, microstomia, and retrognathia. This syndrome is transmitted as an X-linked trait.
Microcephaly-microcornea syndrome, Seemanova type
SED and SEMD
Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
Kawashima-Tsuji syndrome
Microcephaly-deafness-intellectual disability syndrome is characterised by microcephaly, deafness, intellectual deficit and facial dysmorphism (facial asymmetry, prominent glabella, low-set and cup-shaped ears, protruding lower lip, micrognathia). It has been described in a mother and her son. The mode of inheritance is probably autosomal dominant.
Microcephaly-deafness-intellectual disability syndrome
Microcornea-corectopia-macular hypoplasia syndrome is characterised by microcornea, which may also be accompanied by corectopia and macular hypoplasia. It has been described in three individuals from two successive generations of one family.
Microcornea-corectopia-macular hypoplasia syndrome
Microcornea-glaucoma-absent frontal sinuses syndrome is characterised by microcornea, glaucoma and absent frontal sinuses. Less 10 cases have been described so far. The mode of transmission appears to be autosomal dominant.
Microcornea-glaucoma-absent frontal sinuses syndrome
Microgastria-limb reduction defect syndrome is a rare multiple congenital anomalies syndrome characterized by congenital microgastria and a uni- or bilateral limb reduction defect, that can include absent or hypoplastic thumbs, radius, ulna and/or amelia. Association with other variable abnormalities, including intestinal malrotation, asplenia, dysplastic kidneys, hypoplastic lungs, dysplastic corpus collosum, and abnormal genitalia, has been reported.
Microgastria-limb reduction defect syndrome
Spondylometaphyseal dysplasias are a heterogeneous group of disorders associated with walking and growth disturbances that become evident during the second year of life.
Spondylometaphyseal dysplasia
Isolated anophthalmia-microphthalmia syndrome
MAC spectrum
Microphthalmia-anophthalmia-coloboma spectrum
Anophthalmia and microphthalmia describe, respectively, the absence of an eye and the presence of a small eye within the orbit.
Isolated microphthalmia-anophthalmia-coloboma
use http://www.orpha.net/ORDO/Orphanet_2542 with label: Isolated microphthalmia-anophthalmia-coloboma
OBSOLETE: Microphthalmia-cataract syndrome
RI-CMT type B
Autosomal recessive intermediate Charcot-Marie-Tooth disease type B is an extremely rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by a CMT neuropathy associated with developmental delay, self-abusive behavior, dysmorphic features and vestibular Schwannoma. Motor nerve conduction velocities demonstrate features of both demyelinating and axonal pathology.
Autosomal recessive intermediate Charcot-Marie-Tooth disease type B
Autosomal recessive spastic ataxia type 4
SPAX4
Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome
Monosomy 19p13.12
19p13.12 microdeletion syndrome is a newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism.
19p13.12 microdeletion syndrome
Distal del(7)(q11.23)
Distal monosomy 7q11.23
Distal 7q11.23 microdeletion syndrome is a rare chromosomal anomaly characterized by epilepsy, neurodevelopmental disorder variably including developmental delays and intellectual disabilities of variable severity, learning disability and neurobehavioral abnormalities (autism spectrum disorder, hyperactivity, impulsivity, aggression, self-abusive behaviors, depression).
Distal 7q11.23 microdeletion syndrome
Autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency
LGMD2Q
Autosomal recessive limb-girdle muscular dystrophy type 2Q (LGMD2Q) is a form of limb-girdle muscular dystrophy characterized by proximal muscle weakness presenting in early childhood (with occasional falls and difficulties in climbing stairs) and a progressive course resulting in loss of ambulation in early adulthood. Muscle atrophy and multiple contractures have also been reported in rare cases.
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Rare LP
Lichen planus (LP) is a common inflammatory dermatosis characterized by the development of pruritic violaceous papules or plaques on mucocutaneous surfaces. Eruptions can involve the face, neck, limbs, back, genitalia, tongue, buccal mucosa, nails, and scalp. LP comprises rare variants affecting the skin and the mucosa. Rare cutaneous LP includes linear LP (referring to blaschkoid and zosteriform distributions of lichenoid lesions), actinic LP, annular LP, atrophic LP, annular atrophic LP, lichen planopilaris (comprising Graham Little-Piccardi-Lassueur syndrome and frontal fibrosing alopecia), lichen planus pigmentosus, and lichen planus pemphigoides (see these terms). Rare mucosal LP includes vulvovaginal gingival syndrome and LP sialadenitis (see these terms).
Rare lichen planus
Rare cutaneous LP
Rare cutaneous lichen planus
Rare mucosal LP
Rare mucosal lichen planus
Blaschkoid LP
Blaschkoid lichen planus
Linear LP
Linear lichen planus (LLP), also referred to as Blaschkoid LP, is a rare type of lichen planus characterized by a linear distribution of lichenoid lesions along the lines of Blaschko, which are embryonic pathways of skin development.
Linear lichen planus
Actinic LP
Lichen planus actinus
Lichen planus subtropicus
Lichen planus tropicus
Lichenoid melanodermatitis
Summertime actinic lichenoid eruption
Actinic lichen planus (LP) is a rare variant of cutaneous lichen planus (see this term) characterized by the development of photo-distributed lichenoid lesions.
Actinic lichen planus
Annular atrophic LP
Annular atrophic lichen planus (LP) is a rare variant of cutaneous lichen planus (see this term) characterized by both annular and atrophic LP (see these terms) features in the same lesion.
Annular atrophic lichen planus
Annular LP
Annular lichen planus (LP) is a rare variant of cutaneous lichen planus (see this term) characterized by the development of annular lesions.
Annular lichen planus
Atrophic LP
Atrophic lichen planus (LP) is a rare variant of cutaneous lichen planus (see this term) characterized by the development of pale papules or plaques with an atrophic center.
Atrophic lichen planus
LP pigmentosa
LP pigmentosus
Lichen planus pigmentosa
Lichen planus pigmentosus inversus
Lichen planus (LP) pigmentosus is a rare variant of cutaneous lichen planus (see this term) characterized by the presence of hyperpigmented lichenoid lesions in sun-exposed or flexural areas of the body.
Lichen planus pigmentosus
LP pemphigoides
Lichen planus (LP) pemphigoides is a rare cross-over syndrome between lichen planus and bullous pemphigoid (see these terms).
Lichen planus pemphigoides
FFA
Frontal fibrosing alopecia (FFA) is a rare variant of lichen planopilaris (see this term) characterized by symmetrical, progressive, band-like anterior hair loss of the scalp.
Frontal fibrosing alopecia
Inhalation botulism
Inhalational botulism is a man-made form of botulism (see this term), a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs).
Inhalational botulism
Inadvertent botulism
Iatrogenic botulism is the most recent man-made form of botulism (see this term), a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), and it may occur as an adverse event after therapeutic or cosmetic use.
Iatrogenic botulism
Temple syndrome is a rare, genetic disease characterized by pre-and postnatal growth delay, feeding difficulties, muscular hypotonia, motor developmental delay (with or without mild intellectual disability) and mild facial dysmorphism, such as broad, prominent forehead, short nose with flat nasal root and wide tip, downturned corners of mouth, high-arched palate and micrognathia. Additonal features include childhood-onset central obesity, premature puberty and variable bone abnormalities (e.g. small hands and feet, dolichospondyly, slender long bones and craniofacial disproportion).
Temple syndrome
KOS
Kagami-Ogata syndrome is a rare genetic disease characterized by polyhydramnios (mostly due to placentomegaly), fetal macrosomia, abdominal wall defects, skeletal abnormalities (including bell-shaped thorax, coat-hanger appearance of the ribs and decreased mid to wide thorax diameter ratio in infancy), feeding difficulties and impaired swallowing, dysmorphic features (hairy forehead, full cheeks, protruding philtrum, micrognathia), developmental delay and intellectual disability. Additional features may include kyphoskoliosis, joint contractures, diastasis recti, muscular hypotonia. There is increased risk of hepatoblastoma.
Kagami-Ogata syndrome
Paternal del(14)(q32.2)
Temple syndrome due to paternal 14q32.2 microdeletion
Maternal del(14)(q32.2)
Maternal monosomy 14q32.2
Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
Temple syndrome due to paternal 14q32.2 hypomethylation
Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation
Gestational trophoblastic disease
Complete molar pregnancy
Complete hydatidiform mole is a type of hydatiform mole (see this term) characterized by abnormal hyperplastic trophoblasts and hydropic villi due to fertilization of an enucleated ovocyte by one or two haploid spermatozoa that can manifest with vaginal bleeding accompanied by nausea and frequent vomiting, hyperemesis gravidarum, risk of spontaneous miscarriage, hyperthyroidism, and has the potential of developing into choriocarcinoma (see this term).
Complete hydatidiform mole
Incomplete hydatidiform mole
Incomplete molar pregnancy
Partial molar pregnancy
Partial hydatiform mole is a type of hydatiform mole (see this term) characterized by abnormal hyperplastic trophoblasts and hydropic villi due to fertilization of a normal ovocyte by two spermatozoa or one abnormal spermatozoon (allowing for some fetal development), and that manifests with vaginal bleeding accompanied by nausea and frequent vomiting, hyperemesis gravidarum, hyperthyroidism and risk of spontaneous miscarriage.
Partial hydatidiform mole
An epithelioid trophoblastic tumor is an extremely rare gestational trophoblastic tumor (GTT; see this term) which generally occurs several years after pregnancy.
Epithelioid trophoblastic tumor
Thomas-Jewett-Raines syndrome
Microphthalmia-microtia-fetal akinesia syndrome
Benign hyperferritinemia
Genetic hyperferritinemia without iron overload is a rare biological anomaly defined as high serum ferritin levels without elevations of transferrin saturation, tissue or serum iron and characterized by an apparently asymptomatic clinical phenotype.
Genetic hyperferritinemia without iron overload
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_168569 with label: H syndrome
Familial sinus histiocytosis with massive lymphadenopathy
Pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome
Pyruvate metabolism disorder
Citric acid cycle disorder
Krebs cycle disorder
TCA cycle disorder
Tricarboxylic acid cycle disorder
Mitochondrial oxidative phosphorylation disorder due to mtDNA anomalies
OXPHOS disease due to mitochondrial DNA anomalies
OXPHOS disease due to mtDNA anomalies
Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies
Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mtDNA
OXPHOS disease due to a large-scale single deletion of mitochondrial DNA
OXPHOS disease due to a large-scale single deletion of mtDNA
Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA
Mitochondrial oxidative phosphorylation disorder due to a point mutation of mtDNA
OXPHOS disease due to a point mutation of mitochondrial DNA
OXPHOS disease due to a point mutation of mtDNA
Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA
Maternally-inherited mitochondrial myopathy
mtDNA-related mitochondrial myopathy
Mitochondrial DNA-related mitochondrial myopathy
Mitochondrial oxidative phosphorylation disorder due to a duplication of mtDNA
OXPHOS disease due to a duplication of mitochondrial DNA
OXPHOS disease due to a duplication of mtDNA
Mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA
mtDNA depletion syndrome, encephalomyopathic form
Mitochondrial DNA depletion syndrome, encephalomyopathic form is a group of mitochondrial DNA maintenance syndrome diseases characterized by predominantly neuromuscular manifestations with typically infantile onset of hypotonia, lactic acidosis, psychomotor delay, progressive hyperkinetic-dystonic movement disorders, external ophtalmoplegia, sensosineural hearing loss, generalized seizures and variable renal tubular dysfunction. It may be associated with a broad range of other clinical features.
Mitochondrial DNA depletion syndrome, encephalomyopathic form
Multiple mtDNA deletion syndrome
Multiple mitochondrial DNA deletion syndrome
Ataxia neuropathy spectrum
OXPHOS disease with no known mechanism
Mitochondrial oxidative phosphorylation disorder with no known mechanism
Mitochondrial membrane transport disorder
Mitochondrial substrate carrier disorder
Mitochondrial protein import disorder
Unspecified mitochondrial disorder
Exercise intolerance with lactic acidosis
Isolated respiratory chain complex disorder
Isolated oxidative phosphorylation complex disorder
Maternally-inherited mitochondrial dystonia
mtDNA-related dystonia
Maternally-inherited mitochondrial dystonia is a rare neurological mitochondrial DNA-related disorder characterized clinically by progressive pediatric-onset dystonia with variable degrees of severity.
Mitochondrial DNA-related dystonia
Pure mitochondrial myopathy is a rare mitochondrial disease characterized by exclusive skeletal muscle involvement, without clinical evidence of other organ involvement, manifesting with progressive limb weakness, proximal limb muscle atrophy, and eye muscle anomalies (e.g. ocular motility restriction, ptosis). Patients may present with lactic acidosis, diffuse myalgia and overall fatigability (particularly during/after physical activities), dysphagia, and diminished deep tendon reflexes.
Pure mitochondrial myopathy
LIMD
LIMM
Lethal infantile mitochondrial disease
Lethal infantile mitochondrial myopathy is a rare mitochondrial oxidative phosphorylation disorder characterized by progressive generalized hypotonia, progressive external ophthalmoplegia and severe lactic acidosis, which results in early fatality (days to months after birth). Patients may present with lethargy and areflexia and may associate additional features, such as cardiomyopathy, renal dysfunction, liver involvement and seizures.
Lethal infantile mitochondrial myopathy
Benign COX deficiency
Infantile reversible cytochrome C oxidase deficiency myopathy
Mitochondrial myopathy with reversible COX deficiency
Mitochondrial myopathy with reversible complex IV deficiency
Reversible infantile cytochrome C oxidase deficiency
Reversible infantile respiratory chain deficiency
Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
Deoxyguanosine kinase deficiency
mtDNA depletion syndrome, hepatocerebral form
Mitochondrial DNA depletion syndrome, hepatocerebral form
mtDNA depletion syndrome, myopathic form
Myopathic mitochondrial DNA (mtDNA) depletion syndrome is one of the main forms of mtDNA depletion syndrome (see this term) that displays a broad phenotypic spectrum but that is most often characterized by hypotonia, proximal muscle weakness, facial and bulbar weakness and failure to thrive.
Mitochondrial DNA depletion syndrome, myopathic form
MSCAE
Mitochondrial spinocerebellar ataxia with epilepsy
SCAE
Spinocerebellar ataxia with epilepsy is a rare, mitochondrial DNA maintenance syndrome characterized by cerebellar ataxia, sensory peripheral neuropathy, myoclonus, epilepsy, progressive cognitive impairment, late-onset ptosis and external ophthalmoplegia. Liver failure may also occur, most often in association with the use of antiepileptic drug sodium valproate.
Spinocerebellar ataxia with epilepsy
arPEO
Autosomal recessive progressive external ophthalmoplegia
adPEO
Autosomal dominant progressive external ophthalmoplegia
Hearing loss-encephaloneuropathy-obesity-valvulopathy syndrome
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome is a rare mitochondrial disease with marked clinical variability typically characterized by encephalomyopathy, kidney disease (nephrotic syndrome), optic atrophy, early-onset deafness, pancytopenia, obesity, and cardiac disease (valvulopathy). Additionally, macrocephaly, intellectual disability, hyperlactatemia, elevated lactate/pyruvate ratio, insulin-dependent diabetes, livedo reticularis, liver dysfunction and seizures have also been associated.
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome
Hemifacial microsomia-radial defects syndrome
Moeschler-Clarren syndrome
Oculoauriculovertebral spectrum (OAVS) with radial defects is a rare branchial arches and limb primordia development disorder characterized by variable degrees of uni- or bilateral craniofacial malformation and radial defects that result in extremely variable phenotypic manifestations. Characteristic features include low postnatal weight, short stature, vertebral defects, hearing loss, and facial dysmorphism (incl. facial asymmetry, external, middle, and inner ear malformations, orofacial clefts, and mandibular hypoplasia). These features are invariably associated with radial defects, such as preaxial polydactyly, thumb and/or radius hypoplasia/agenesis, or triphalangeal thumb. Cardiac, pulmonary, renal, and central nervous system involvement has also been reported.
Oculoauriculovertebral spectrum with radial defects
Renal tubulopathy - encephalopathy - liver failure describes a spectrum of phenotypes with manifestations similar but milder than those seen in GRACILE syndrome (see this term) and that can be associated with encephalopathy and psychiatric disorders.
Renal tubulopathy-encephalopathy-liver failure syndrome
Isolated COX deficiency
Isolated mitochondrial respiratory chain complex IV deficiency
Isolated cytochrome C oxidase deficiency
Isolated mitochondrial respiratory chain complex V deficiency
Isolated ATP synthase deficiency is a rare, genetic, mitochondrial oxidative phosphorylation disorder that may present with a wide range of symptoms (including muscular hypotonia, hypertrophic cardiomyopathy, psychomotor delay, encephalopathy, peripheral neuropathy, lactic acidosis, 3-methylglutaconic aciduria) and clinical syndromes (including NARP and MILS).
Isolated ATP synthase deficiency
COXPD2
Combined oxidative phosphorylation defect type 2 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by severe intrauterine growth retardation, neonatal limb edema and redundant skin on the neck (hydrops), developmental brain defects (corpus callosum agenesis, ventriculomegaly), brachydactyly, dysmorphic facial features with low set ears, severe intractable neonatal lactic acidosis with lethargy, hypotonia, absent spontaneous movements and fatal outcome. Markedly decreased activity of complex I, II + III and IV in muscle and liver have been determined.
Combined oxidative phosphorylation defect type 2
COXPD4
Combined oxidative phosphorylation defect type 4 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by a neonatal onset of severe metabolic acidosis and respiratory distress, persistent lactic acidosis with episodes of metabolic crises, developmental regression, microcephaly, abnormal gaze fixation and pursuit, axial hypotonia with limb spasticity and reduced spontaneous movements. Neuroimaging studies reveal polymicrogyria, white matter abnormalities and multiple cystic brain lesions, including basal ganglia, and cerebral atrophy. Decreased activity of complex I and IV have been determined in muscle biopsy.
Combined oxidative phosphorylation defect type 4
COXPD7
Severe C12ORF65-related COXPD
Severe C12ORF65-related combined oxidative phosphorylation defect
Combined oxidative phosphorylation defect type 7 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by a variable phenotype that includes onset in infancy or early childhood of failure to thrive and psychomotor regression (after initial normal development), as well as ocular manifestations (such as ptosis, nystagmus, optic atrophy, ophthalmoplegia and reduced vision). Additional manifestations include bulbar paresis with facial weakness, hypotonia, difficulty chewing, dysphagia, mild dysarthria, ataxia, global muscle atrophy, and areflexia. It has a relatively slow disease progression with patients often living into the third decade of life.
Combined oxidative phosphorylation defect type 7
HPD with diurnal fluctuation
Hereditary progressive dystonia with diurnal fluctuation
Dopa-responsive dystonia (DRD) describes a group of neurometabolic disorders characterized by dystonia that typically shows diurnal fluctuations, that responds excellently to levodopa (L-dopa) and that is comprised of autosomal dominant dopa-responsive dystonia (DYT5a), autosomal recessive dopa-responsive dystonia (DYT5b) and dopa responsive dystonia due to sepiapterin reductase (SR) deficiency.
Dopa-responsive dystonia
Verloes-Van Maldergem-de Marneffe syndrome
Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects.
Microspherophakia-metaphyseal dysplasia syndrome
use http://www.orpha.net/ORDO/Orphanet_1215 with label: Autosomal dominant optic atrophy plus syndrome
OBSOLETE: Autosomal dominant optic atrophy and late-onset deafness
GLRX5-related sideroblastic anemia
) described in a single patient with adult onset microcytic hypochromic anemia with liver iron overload and type 2 diabetes.
Adult-onset autosomal recessive sideroblastic anemia
PDHBD
Pyruvate dehydrogenase complex E1 component subunit beta deficiency
Pyruvate dehydrogenase E1-beta deficiency is an extremely rare form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by severe lactic acidosis, developmental delay and hypotonia.
Pyruvate dehydrogenase E1-beta deficiency
2-oxoglutarate complex deficiency
Branched chain alpha-ketoacid dehydrogenase complex deficiency
Diaphorase deficiency
Dihydrolipoyl dehydrogenase deficiency
Glycine cleavage system L protein deficiency
Lipoamide dehydrogenase deficiency
Pyruvate dehydrogenase complex component E3 deficiency
Pyruvate dehydrogenase protein X component deficiency
Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction.
Pyruvate dehydrogenase E3-binding protein deficiency
use http://www.orpha.net/ORDO/Orphanet_255210 with label: Mitochondrial DNA-associated Leigh syndrome
Microsporidiosis is a parasitosis caused by microsporidia (protozoan parasites).
Microsporidiosis
MILS
Maternally-inherited Leigh disease
Maternally-inherited infantile subacute necrotizing encephalopathy
mtDNA-associated Leigh syndrome
Maternally inherited Leigh syndrome is a rare subtype of Leigh syndrome (see this term) characterized clinically by encephalopathy, lactic acidosis, seizures, cardiomyopathy, respiratory disorders and developmental delay, with onset in infancy or early childhood, and resulting from maternally-inherited mutations in mitochondrial DNA.
Mitochondrial DNA-associated Leigh syndrome
OBSOLETE: Maternally-inherited mitochondrial hypertrophic cardiomyopathy
Navajo neuropathy
Navajo neurohepatopathy
mtDNA depletion syndrome, encephalomyopathic form with renal tubulopathy
Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
Infantile subacute necrotizing encephalopathy with leukodystrophy
Leigh disease with leukodystrophy
Leigh syndrome with leukodystrophy
Infantile subacute necrotizing encephalopathy with nephrotic syndrome
Leigh disease with nephrotic syndrome
Leigh syndrome with nephrotic syndrome
Meier-Gorlin syndrome
Ear-patella-short stature syndrome is an association of malformations including bilateral microtia (severe hypoplasia of ear pinnae), absent patellae, short stature, poor weight gain, and characteristic facial features such as high forehead, micrognathism with full lips and small mouth, and accentuated nasolabial folds (smile wrinkles linking the nostrils to the labial commissure).
Ear-patella-short stature syndrome
MCOPS7
MIDAS syndrome
MLS syndrome
Microphthalmia-dermal aplasia-sclerocornea syndrome
Syndromic microphthalmia type 7
MIDAS syndrome (Microphthalmia, Dermal Aplasia, and Sclerocornea), also called microphthalmia with linear skin defects syndrome, is characterized by ocular defects (microphthalmia, orbital cysts, corneal opacities) and linear skin dysplasia of the neck, head, and chin. It has been reported in less than 50 patients. Additional findings may include agenesis of corpus callosum, sclerocornea, chorioretinal abnormalities, hydrocephalus, seizures, intellectual deficit, and nail dystrophy. It is transmitted as an X-linked dominant trait with male lethality.
Microphthalmia with linear skin defects syndrome
Intellectual disability, Mietens-Weber type
Mietens syndrome is a very rare syndrome consisting of corneal opacity, nystagmus, strabismus, flexion contracture of the elbows with dislocation of the head of the radius and abnormally short ulnae and radii.
Mietens syndrome
Microcephaly-hypergonadotropic hypogonadism-short stature syndrome
Mikati-Najjar-Sahli syndrome is characterized by microcephaly, hypergonadotropic hypogonadism, short stature and facial dysmorphism (a narrow forehead, hypertrophy and fusion of the eyebrows, micrognathia and pinnae abnormalities).
Mikati-Najjar-Sahli syndrome
DYT1
Dystonia musculorum deformans
EOTD
Early-onset generalized torsion dystonia
Early-onset primary dystonia
Early-onset torsion dystonia
Idiopathic dystonia
Idiopathic torsion dystonia
Oppenheim dystonia
Early onset torsion dystonia (EOTD) is a rare movement disorder characterized by involuntary, repetitive, sustained muscle contractions or postures involving one or more sites of the body.
Early-onset generalized limb-onset dystonia
This syndrome is characterized by the association of Möbius syndrome (congenital facial palsy with impaired ocular abduction; see this term) with peripheral axonal neuropathy and hypogonadotropic hypogonadism.
Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome
Ackerman fused molar roots syndrome
Ackerman syndrome is characterized by pyramidal molar roots and taurodontism, associated with variable anomalies. It has been described in two generations of one family. Both parents and their six sibs had pyramidal, taurodont or fused molar roots. Some of the patients also had hypotrichosis, an abnormal upper lip, thickened and wide philtrum, and/or juvenile glaucoma. Other features included entropion of the eyelid, syndactyly and clinodactyly of the fifth fingers.
Pyramidal molars-abnormal upper lip syndrome
Macrocephaly-obesity-mental disability-ocular abnormalities syndrome
Macrosomia-obesity-macrocephaly-ocular abnormalities syndrome
MOMO syndrome is a very rare genetic overgrowth/obesity syndrome (see this term) characterized by macrocephaly, obesity, mental (intellectual) disability and ocular abnormalities. Other frequent clinical signs include macrosomia, downslanting palpebral fissures, hypertelorism, broad nasal root, high and broad forehead and delay in bone maturation, in association with normal thyroid function and karyotype.
MOMO syndrome
Sommer-Hines syndrome
Tetramelic monodactyly is a rare, genetic, congenital limb malformation disorder characterized by the presence of a single digit on all four extremities. Malformation is typically isolated however, aplastic and hypoplastic defects in the remaining skeletal parts of hands and feet have been reported. There have been no further descriptions in the literature since 1992.
Tetramelic monodactyly
Skeletal dysplasia-brachydactyly syndrome
Mononen-Karnes-Senac syndrome is characterized by skeletal dysplasia associated with finger malformations (brachydactyly with short and abducted thumbs, short index fingers, and markedly short and abducted great toes), variable mild short stature, and mild bowleg with overgrowth of the fibula. It has been described in two males, their mothers, and a maternal aunt. Females are less severely affected than males. X-linked dominant inheritance is suggested.
Mononen-Karnes-Senac syndrome
CAEBV syndrome
Chronic EBV infection syndrome
Chronic Epstein-Barr virus infection syndrome is a rare infectious disease characterized by familial, primary, chronic Epstein-Barr virus infection which typically manifests with persistent mononucleosis-like signs and symptoms, in the absence of secondary immunodeficiency.
Chronic Epstein-Barr virus infection syndrome
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_969 with label: Acromicric dysplasia
EBS-MD
Limb-girdle muscular dystrophy with epidermolysis bullosa simplex
Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized blistering associated with muscular dystrophy.
Epidermolysis bullosa simplex with muscular dystrophy
Morse-Rawnsley-Sargent syndrome
Holoprosencephaly-hypokinesia syndrome is an extremely rare and fatal central nervous system malformation occurring during embryogenesis, presenting prenatally with holoprosencephaly and fetal hypokinesia as major features. Other manifestations include microcephaly, multiple contractures and intrauterine growth restriction. There have been no further descriptions in the literature since 1988.
Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome
Woods-Black-Norbury syndrome
X-linked immunoneurologic disorder is characterized by immune deficiency and neurological disorders in females, and by neonatal death in males.
X-linked immunoneurologic disorder
Bedouin spastic ataxia syndrome
Mousa-Al Din-Al Nassar syndrome
Spastic ataxia-ocular anomalies syndrome
Spastic ataxia-corneal dystrophy syndrome is a rare, hereditary ataxia disorder characterized by the presence of spastic ataxia in association with bilateral congenital cataract, macular corneal dystrophy (stromal with deposition of mucoid material) and nonaxial myopia. Patients present normal intellectual development. There have been no further descriptions in the literature since 1986.
Spastic ataxia-corneal dystrophy syndrome
Idiopathic Moyamoya disease
Moyamoya disease (MMD) is a rare intracranial arteriopathy involving progressive stenosis of the cerebral vasculature located at the base of the brain causing transient ischemic attacks or strokes.
Moyamoya disease
Alopecia-epilepsy-intellectual disability syndrome, Moynahan type
Moynahan syndrome
Lubani-Al Saleh-Teebi syndrome
, folate deficiency megaloblastic anemia, and intellectual disability. There have been no further descriptions in the literature since 1991.
Cystic fibrosis-gastritis-megaloblastic anemia syndrome
MULIBREY dwarfism
Muscle-liver-brain-eye nanism
Perheentupa syndrome
Pericardial constriction-growth failure syndrome
MULIBREY nanism (MUL) is a prenatal onset growth disorder with multiorgan manifestations.
MULIBREY nanism
Atypical MRKH syndrome
MRKH syndrome type 2
MURCS association
Müllerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 2, a form of MRKH syndrome (see this term), is characterized by congenital aplasia of the uterus and upper 2/3 of the vagina that is associated with at least one other malformation such as renal, vertebral, or, less commonly, auditory and cardiac defects. The acronym MURCS (MÜllerian duct aplasia, Renal dysplasia, Cervical Somite anomalies) is also used.
Mayer-Rokitansky-Küster-Hauser syndrome type 2
Furukawa-Takagi-Nakao syndrome
This disorder is characterized by muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus.
Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome
CMD1A
Congenital muscular dystrophy due to laminin alpha2 deficiency
MDC1A
Merosin-negative congenital muscular dystrophy
Congenital muscular dystrophy type 1A (MCD1A) belongs to a group of neuromuscular disorders with onset at birth or infancy characterized by hypotonia, muscle weakness and muscle wasting.
Congenital muscular dystrophy type 1A
Shoulder and girdle defects-familial intellectual disability syndrome
Myalgia-eosinophilia syndrome associated with tryptophan is a rare systemic disease characterized by severe myalgia and peripheral eosinophilia associated with tryptophan dietary supplementation. The symptoms do not subside after tryptophan discontinuation. Clinical presentation includes muscle tenderness and cramps, fatigue, weakness, paresthesia, peripheral edema, arthralgia, dyspnea, skin rash, dry mouth, and development of scleroderma-like skin abnormalities.
Myalgia-eosinophilia syndrome associated with tryptophan
Madura foot
Mycetomas are subcutaneous inflammatory pseudotumors containing fungal or actinomycetic (bacteria with branched filaments) granules or grains.
Mycetoma
Mycosis fungoides, Alibert-Bazin type
Classical mycosis fungoides is the most common type of mycosis fungoides (MF; see this term), a form of cutaneous T-cell lymphoma, and is characterized by slow progression from patches to more infiltrated plaques and eventually to tumors.
Classic mycosis fungoides
Myelocerebellar disorder
Ataxia-pancytopenia syndrome is a rare genetic disease characterized by cerebellar ataxia, cytopenias and predisposition to bone marrow failure and myeloid leukaemia. Neurologic features variably include slowly progressive cerebellar ataxia or balance impairment with cerebellar atrophy and periventricular white matter T2 hyperintensities in brain MRI, horizontal and vertical nystagmus, dysmetria, dysarthria, pyramidal tract signs and reduced nerve conduction velocity. Hematological abnormalities are variable and may be intermittent and include cytopenias of all cell lineages, immunodeficiency, myelodysplasia and acute myeloid leukemia.
Ataxia-pancytopenia syndrome
methionine sulfoxide reductase B3
KIAA0581
PLC-I
PLC154
phospholipase C beta 1
NEM6
nemaline myopathy type 6
kelch repeat and BTB domain containing 13
D6S216E
PSMB5i
RING10
beta5i
proteasome subunit beta 8
KIAA1901
NY-REN-55
NIMA related kinase 1
ARS-interacting multifunctional protein 1
EMAP II
EMAP-2
EMAPII
p43
aminoacyl tRNA synthetase complex interacting multifunctional protein 1
SPARC related modular calcium binding 1
anoctamin 6
MPO deficiency
Myeloperoxidase deficiency
Facial dysmorphism-intellectual disability-short stature-hearing loss syndrome
Myhre syndrome is characterised by striking muscular build, short stature, reduced joint mobility, brachydactyly, mixed hearing loss and mental retardation of variable severity. Facial dysmorphism with short palpebral fissures, short philtrum, thin lips, maxillary hypoplasia and prognathism is present. Thick skin has been observed in six patients.
Myhre syndrome
This syndrome is characterised by the association of myoclonus, cerebellar ataxia and sensorineural hearing loss.
Myoclonus-cerebellar ataxia-deafness syndrome
Hereditary myoclonus-progressive distal muscular atrophy syndrome
Jankovic-Rivera syndrome
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome is characterized by hereditary myoclonus and progressive distal muscular atrophy. Less than 10 cases have been reported. Treatment with clonazepam results in complete and lasting improvement of the myoclonus.
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
Infantile myofibromatosis (IM) is a rare benign soft tissue tumor characterized by the development of nodules in the skin, striated muscles, bones, and in exceptional cases, visceral organs, leading to a broad spectrum of clinical symptoms. IM contains myofibroblasts.
Infantile myofibromatosis
Tubular aggregate myopathy
FANCP
Fanconi anemia, complementation group P
KIAA1784
KIAA1987
SLX4 structure-specific endonuclease subunit
HPAP
human purple acid phosphatase
tartrate-resistant acid phosphatase
acid phosphatase 5, tartrate resistant
HDS
RP59
dehydrodolichyl diphosphate synthase subunit
GFA
GFAT
GFAT1
glutamine--fructose-6-phosphate transaminase 1
immunoglobulin like domain containing receptor 1
Myopathy and diabetes mellitus
Benign occipital epilepsy is a rare, genetic neurological disorder characterized by visual seizures and occipital epileptiform paroxysms reactive to ocular opening which present in infancy to mid-adolescence. Vomiting, tonic eye deviation and impairment of consciousness are typically associated with the Panayiotopoulos type, while visual hallucinations, ictal blindness and post-ictal headache are commonly observed in the Gastaut type. Electroencephalographic findings in both types are similar and include bilateral, synchronous, high voltage spike-wave complexes in a normal background activity located predominantly in the occipital lobes.
Benign occipital epilepsy
Mitochondrial myopathy-lactic acidosis-hearing loss syndrome
Mitochondrial myopathy-lactic acidosis-deafness is a type of metabolic myopathy described only in two sisters to date, presenting during childhood, and characterized clinically by growth failure, severe muscle weakness, and moderate sensorineural deafness and biochemically by metabolic acidosis, elevated serum pyruvate concentration, hyperalaninemia and hyperalaninuria. There have been no further descriptions in the literature since 1973.
Mitochondrial myopathy-lactic acidosis-deafness syndrome
MLASA
Myopathy, lactic acidosis and sideroblastic anemia
Mitochondrial myopathy and sideroblastic anemia belongs to the heterogeneous family of metabolic myopathies. It is characterised by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anaemia around adolescence, lactic acidaemia, and mitochondrial myopathy.
Mitochondrial myopathy and sideroblastic anemia
Vacuolar myopathy
X-linked myopathy with excessive autophagy is a childhood-onset X-linked myopathy characterised by slow progression of muscle weakness and unique histopathological findings.
X-linked myopathy with excessive autophagy
Combined defect in adenosylcobalamin and methylcobalamin synthesis
Methylmalonic aciduria with homocystinuria
Methylmalonic acidemia with homocystinuria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. There are four complementation classes of cobalamin defects (cblC, cblD, cblF and cblJ) that are responsible for methylmalonic acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD cblF and cblJ; see these terms).
Methylmalonic acidemia with homocystinuria
Myopathy-growth delay-intellectual disability-hypospadias syndrome
ARSA
Congenital sideroblastic anemia
Congenital autosomal recessive sideroblastic anemia (ARSA) is a non-syndromic, microcytic/hypochromic sideroblastic anemia, present from early infancy and characterized by severe microcytic anemia, which is not pyridoxine responsive, and increased serum ferritin.
Autosomal recessive sideroblastic anemia
JV15-2
SMAD family member 3
HsORC4
Orc4p
origin recognition complex subunit 4
origin recognition complex subunit 6
DUP
RIS2
chromatin licensing and DNA replication factor 1
cell division cycle 6
IFT139B
JBTS11
NPHP12
THM1
tetratricopeptide repeat domain 21B
tetratricopeptide repeat domain 19
JBTS24
MKS8
Meckel syndrome, type 8
TECT2
tectonic family member 2
Familial hollow visceral myopathy
Hereditary hollow visceral myopathy
Megaduodenum and/or megacystis
Familial visceral myopathy is a rare hereditary myopathic degeneration of both gastrointestinal and urinary tracts that causes chronic intestinal pseudo-obstruction. It usually presents after the first decade of life with megaduodenum, megacystis and symptoms such as abdominal distension and/or pain, vomiting, constipation, diarrhea, dysphagia, and/or urinary tract infections.n.
Familial visceral myopathy
KIAA1074
ankyrin repeat domain 26
MAPKKK1
MEKK
mitogen-activated protein kinase kinase kinase 1
HSORC1
PARC1
origin recognition complex 1
origin recognition complex, subunit 1, S. cerevisiae, homolog-like
replication control protein 1
origin recognition complex subunit 1
HBEBP2
HBEBP4
glycerate kinase
CL-K1
Collectin K1
MGC3279
collectin subfamily member 11
ALK lymphoma oligomerization partner on chromosome 17
ALO17
KIAA1554
NET57
mysterin
ring finger protein 213
N syndrome is characterised by intellectual deficit, deafness, ocular anomalies, T-cell leukaemia, cryptorchidism, hypospadias and spasticity.
N syndrome
tubulin alpha 8
AICARFT
IMPCHASE
PURH
phosphoribosylaminoimidazolecarboxamide formyltransferase/IMP cyclohydrolase
5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
Isolated complex I deficiency is a rare inborn error of metabolism due to mutations in nuclear or mitochondrial genes encoding subunits or assembly factors of the human mitochondrial complex I (NADH: ubiquinone oxidoreductase) and is characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome (see these terms).
Isolated complex I deficiency
EDMD
Emery-Dreifuss muscular dystrophy (EDMD) is characterized by muscular weakness and atrophy, with early joint contractures and cardiomyopathy.
Emery-Dreifuss muscular dystrophy
FDGC
Familial diffuse cancer of stomach
Familial diffuse gastric cancer
HDGC
Hereditary diffuse cancer of stomach
Hereditary diffuse gastric adenocarcinoma
genes. In early stages it presents with non-specific and vague symptoms, in advanced stages it may cause nausea and vomiting, dysphagia, loss of appetite, abdominal mass or weight loss. Women have an increased risk of lobular breast cancer as well.
Hereditary diffuse gastric cancer
Linear hamartoma syndrome
Linear verrucous nevus syndrome
Distal dup(7)(q11.23)
Distal trisomy 7q11.23
Dup7q11.23D
Distal 7q11.23 microduplication syndrome is a rare chromosomal anomaly characterized by a predominantly neuropsychiatric phenotype with a few dysmorphic characteristics. Speech delay, learning difficulties, attention deficit hyperactivity disorder, bipolar disorder and aggressiveness have been reported.
Distal 7q11.23 microduplication syndrome
9p deletion syndrome
9p- syndrome
Alfi syndrome
Monosomy 9p is a rare chromosomal anomaly characterized by psychomotor developmental delay, facial dysmorphism (trigonocephaly, midface hypoplasia, upslanting palpebral fissures, dysplastic small ears, flat nasal bridge with anteverted nostrils and long philtrum, micrognathia, choanal atresia, short neck), single umbilical artery, omphalocele, inguinal or umbilical hernia, genital abnormalities (hypospadia, cryptorchidism), muscular hypotonia and scoliosis.
Monosomy 9p
Monosomy 14q11.2
14q11.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, hypotonia and facial dysmorphism.
14q11.2 microdeletion syndrome
Del(14)(q12)
Monosomy 14q12
14q12 microdeletion syndrome is a recently described syndrome characterized by severe intellectual deficit, with a normal neonatal period, followed by a phase of regression at the age of 3-6 months.
14q12 microdeletion syndrome
15q11.2 BP1-BP2 microdeletion syndrome
Monosomy 15q11.2
15q11.2 microdeletion syndrome is a rare partial autosomal monosomy with a variable phenotypic expression and reduced penetrance associated with an increased susceptibility to neuropsychiatric or neurodevelopmental disorders including delayed psychomotor development, speech delay, autism spectrum disorder, attention deficit-hyperactivity disorder, obsessive-compulsive disorder, epilepsy or seizures. It may also include mild non-specific dysmorphic features (such as dysplastic ears, broad forehead, hypertelorism), cleft palate, neurological and neuroimaging abnormalities (such as ataxia and muscular hypotonia).
15q11.2 microdeletion syndrome
Del(15)(q14)
Monosomy 15q14
15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism.
15q14 microdeletion syndrome
Proximal del(16)(p11.2)
Proximal monosomy 16p11.2
The proximal 16p11.2 microdeletion syndrome is a chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity.
Proximal 16p11.2 microdeletion syndrome
Nevus sebaceus of Jadassohn
Nevus sebaceus syndrome
Organoid nevus syndrome
Schimmelpenning syndrome
Solomon syndrome
Linear nevus sebaceous syndrome (LNSS) is characterized by the association of a large sebaceous nevus, usually appearing on the face or on the scalp, with a broad spectrum of abnormalities that may affect every organ system, including the central nervous system (brain neoplasms, hemimegalencephaly and lateral ventricle enlargement).
Linear nevus sebaceus syndrome
Trisomy 16p11.2p12.2
16p11.2p12.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental/psychomotor delay (particularly of speech), intellectual disability, autism spectrum disorder and/or obsessive and repetitive behavior, behavioral problems (such as aggression and outbursts), dysmorphic facial features (triangular face, deep set eyes, broad and prominent nasal bridge, upslanting or narrow palpebral features, hypertelorism). Additionally, finger/hand anomalies, short stature, microcephaly and slender build are frequently described.
16p11.2p12.2 microduplication syndrome
16p11.2-p12.2 microdeletion syndrome
Monosomy 16p11.2-p12.2
Monosomy 16p11.2p12.2
16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.
16p11.2p12.2 microdeletion syndrome
Distal del(16)(p11.2)
Distal monosomy 16p11.2
Distal 16p11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental delay, mild intellectual disability and autism spectrum disorder. Macrocephaly (apparent by 2 years of age), structural brain malformations, epilepsy, vertebral anomalies and obesity are frequently associated.
Distal 16p11.2 microdeletion syndrome
Trisomy 14q11.2
14q11.2 microduplication syndrome is a rare chromosomal anomaly characterized by developmental delay, mild to severe intellectual disability with speech impairment and epilepsy. Additionally, it may include dysmorphic features (such as hypo- or hypertelorism, dysplastic ears, short palpebral fissures), microcephaly or macrocephaly, behavioral abnormalities, stereotyped hand movements, ataxia, hypotonia, cleft palate.
14q11.2 microduplication syndrome
Monosomy 16p13.11
16p13.11 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioral problems.
16p13.11 microdeletion syndrome
Trisomy 16p13.11
16p13.11 microduplication syndrome is a recently described syndrome associated with variable clinical features including behavioral abnormalities, developmental delay, congenital heart defects and skeletal anomalies.
16p13.11 microduplication syndrome
Monosomy 16q24.3
16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder.
16q24.3 microdeletion syndrome
Distal del(17)(p13.3 )
Distal monosomy 17p13.3
Distal 17p13.3 microdeletion syndrome is a rare partial monosomy of the short arm of chromosome 17 with a variable phenotype characterized by prenatal and postnatal growth retardation, developmental delay, mild intellectual disability, macrocephaly, mild facial dysmorphisms including prominent forehead, hypertelorism, thick upper and/or lower lip vermillion, and structural abnormalities of the brain variably including white matter abnormalities, prominent Virchow-Robin spaces, Chiari I malformation, corpus callosum hypoplasia, but no lissencephaly.
Distal 17p13.3 microdeletion syndrome
Del(17)(q12)
Monosomy 17q12
17q12 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 17 characterized by renal cystic disease, maturity onset diabetes of the young type 5, and neurodevelopmental disorders, such as cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder. Müllerian aplasia in females, macrocephaly, mild facial dysmorphism (high forehead, deep set eyes and chubby cheeks) and transient hypercalcaemia have also been reported.
17q12 microdeletion syndrome
Dup(17)(q12)
Trisomy 17q12
17q12 microduplication syndrome is a rare chromosomal anomaly with variable phenotypic expression and reduced penetrance associated with developmental delay, mild to severe intellectual disability, speech delay, seizures, microcephaly, behavioral abnormalities, autism spectrum disorder, eye or vision defects (such as strabismus, astigmatism, amblyopia, cataract, coloboma, and microphthalmia), non-specific dysmorphic features, hypotonia, cardiac and renal anomalies, schizophrenia.
17q12 microduplication syndrome
17q23.1-q23.2 microdeletion syndrome
Monosomy 17q23.1-q23.2
Monosomy 17q23.1q23.2
17q23.1q23.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities.
17q23.1q23.2 microdeletion syndrome
Dup(17p)
Trisomy 17p is a rare chromosomal abnormality resulting from the duplication of the short arm of chromosome 17 and characterized by pre- and post-natal growth retardation, developmental delay, hypotonia, digital abnormalities, congenital heart defects, and distinctive facial features.
Trisomy 17p
Monosomy 20p12.3
20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome (see this term), variable developmental delay and facial dysmorphism.
20p12.3 microdeletion syndrome
Salcedo syndrome
Nail-patella-like renal disease is a severe nephropathy characterised by renal dysfunction, proteinuria, oedema and microscopic haematuria. It has been described in three brothers, two of which died from end-stage renal insufficiency.
Nail-patella-like renal disease
Paternal 20q13.2-q13.3 microdeletion syndrome
Paternal del(20)(q13.2q13.3)
Paternal monosomy 20q13.2-q13.3
Paternal monosomy 20q13.2q13.3
Paternal 20q13.2q13.3 microdeletion syndrome is a recently described syndrome characterized by severe pre- and post-natal growth retardation, microcephaly, intractable feeding difficulties, mild psychomotor retardation, hypotonia and facial dysmorphism.
Paternal 20q13.2q13.3 microdeletion syndrome
Monosomy 20q13.33
20q13.33 is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 20 with a highly variable phenotype typically characterized by hypotonia, intellectual disability, cognitive and language deficits (including decreased or absent speech), pre and post-natal growth retardation, feeding difficulties, microcephaly, and malformed hands and feet. Neurodevelopmental disorders (including hyperactivity, social interactive problems and autism spectrum disorder), seizures and dysmorphic facial features (high forehead, hypertelorism, malformed ears, broad nasal bridge, bulbous nasal tip, thin upper lip, small chin) are frequently associated.
20q13.33 microdeletion syndrome
Dup(20p)
Duplication of 20p
Partial duplication of chromosome 20p
Partial duplication of the short arm of chromosome 20
Partial trisomy of chromosome 20p
Partial trisomy of the short arm of chromosome 20
Trisomy 20p is a chromosomal disorder resulting from duplication of all or part of the short arm of chromosome 20. It is mostly characterized by normal growth, mild to moderate intellectual disability, speech delay, poor coordination and evocative facial features.
Trisomy 20p
21q22.11-q22.12 microdeletion syndrome
Monosomy 21q22.11-q22.12
Monosomy 21q22.11q22.12
21q22.11q22.12 microdeletion syndrome
Distal del(22)(q11.2)
Distal monosomy 22q11.2
Distal 22q11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 22, with a highly variable phenotype characterized by prematurity, pre- and post-natal growth retardation, developmental delay (particularly speech), mild intellectual disability, variable cardiac defects, and minor skeletal anomalies (such as clinodactyly). Dysmorphic features include prominent forehead, arched eyebrows, deep set eyes, narrow upslanting palpebral fissures, ear abnormalities, hypoplastic alae nasi, smooth philtrum, down-turned mouth, thin upper lip, retro/micrognatia and pointed chin. For certain very distal deletions, there is a risk of developing malignant rhabdoid tumours.
Distal 22q11.2 microdeletion syndrome
Distal dup(22)(q11.2)
Distal trisomy 22q11.2
Distal 22q11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 22, with a highly variable phenotype principally characterized by developmental delay, intellectual disability, hypotonia, growth retardation, velopharyngeal insufficiency, mild craniofacial dysmorphism (microcephaly, tall/broad forehead, small downslating palpebral fissures, hooded eyelids, flat nasal bridge, low posterior hairline) and digital anomalies. Congenital heart malformations, visual and hearing impairment, urogenital abnormalities, behavourial problems and seizures have also been reported.
Distal 22q11.2 microduplication syndrome
Duplication 1q
Trisomy 1q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 1, with a highly variable phenotype principally characterized by intellectual disability, short stature, craniofacial dysmorphism (incl. macro/microcephaly, prominent forehead, posteriorly rotated, low-set ears, abnormal palpebral fissures, microphthalmia, broad, flat nasal bridge, high-arched palate, micro/retrognathia), cardiac defects and urogenital anomalies. Patients may also present cerebral (e.g. ventriculomegaly) and gastrointestinal malformations, as well as dystonic tremor and recurrent respiratory tract infections.
Trisomy 1q
2p15-p16.1 microdeletion syndrome
Monosomy 2p15-p16.1
Monosomy 2p15p16.1
2p15p16.1 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.
2p15p16.1 microdeletion syndrome
JTA
Non-giant cell granulomatous temporal arteritis with eosinophilia
Juvenile temporal arteritis (JTA) is an extremely uncommon vasculitis of unknown etiology. Eleven documented cases have been reported in the literature, affecting older children and young adults. In contrast to the classic form of temporal arteritis, it is not a systemic disease nor does it cause local symptoms at the temporal area. The term JTA was coined by Lie and his colleagues, in 1975, when they reported four cases of an otherwise asymptomatic disease presenting with a painless nodule at the temporal region. None of the cases showed evidence of systemic disease or history of trauma to the temporal region. Excisional biopsy of the lesions revealed a non-giant cell granulomatous inflammation of the temporal arteries with eosinophilic infiltration, intimal proliferation and microaneurysmal disruption of the media. JTA has a benign clinical course, is treated by surgical excision and does not recur.
Juvenile temporal arteritis
Onychoosteodysplasia
Turner-Kieser syndrome
Nail-patella syndrome (NPS) is a rare hereditary patellar dysostosis characterized by nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies.
Nail-patella syndrome
Del(X)(p21)
Glycerol kinase deficiency-contiguous gene syndrome
Xp21 contiguous gene deletion syndrome
Xp21 microdeletion syndrome is a rare chromosomal anomaly characterized by complex glycerol kinase deficiency, congenital adrenal hypoplasia, intellectual disability and/or Duchenne muscular dystrophy that usually affect males. The clinical features depend on the deletion size and the number and type of involved genes.
Xp21 microdeletion syndrome
Trisomy Xq27.3-q28
Trisomy Xq27.3q28
Xq27.3-q28 microduplication syndrome
Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism.
Xq27.3q28 duplication syndrome
Kleefstra syndrome (KS) is a genetic disorder characterized by intellectual disability, childhood hypotonia, severe expressive speech delay and a distinctive facial appearance with a spectrum of additional clinical features.
Kleefstra syndrome
Amyotrophy-fat tissue anomaly syndrome
NNS
Secondary hypertrophic osteoperiostosis with pernio
Nakajo-Nishimura syndrome (NNS) is a rare autoinflammatory disorder belonging to the proteasome disability syndrome (see this term) group, and characterized by pernio-like lesions appearing in infancy followed by recurrent fever, nodular skin eruption, partial lipodystrophy (mainly in upper extremities and face) and joint contractures.
Nakajo-Nishimura syndrome
Atypical Norrie disease due to Xp11.3 microdeletion
Atypical Norrie disease due to del(X)(p11.3)
Atypical Norrie disease due to monosomy Xp11.3 is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome X, principally characterized by classical Norrie disease (bilateral, severe retinal malformations and opacity of the lens leading to congenital blindness, on occasion associated with progressive sensorineural deafness and intellectual disability), microcephaly, hypotonia, psychomotor and growth delay, moderate to severe mental handicap and disruptive behaviour. Clinical phenotype is highly variable and immunodeficiency, epilepsy and hypogonadism have also been reported.
Atypical Norrie disease due to monosomy Xp11.3
use http://www.orpha.net/ORDO/Orphanet_85332 with label: X-linked intellectual disability-retinitis pigmentosa syndrome
OBSOLETE: Retinitis pigmentosa and intellectual disability due to monosomy Xp11.3
UPD(X)mat
Maternal uniparental disomy of chromosome X
UPD(X)pat
Paternal uniparental disomy of chromosome X
Ring chromosome Y
r(Y)
Ring chromosome Y syndrome is a rare chromosome Y structural anomaly, with a highly variable phenotype, mostly characterized by short stature, partial to total gonadal failure, sexual infantilism, genital anomalies (e.g. ambiguous genitalia, hypospadias, cryptorchidism), and azoospermia or oligozoospermia. Additional reported features include speech delay, obesity, and acanthosis nigricans. Gender dysphoria and comorbid bipolar disorder have also been observed.
Ring chromosome Y syndrome
49,XXXYY syndrome is a rare gonosome anomaly syndrome characterized by a eunuchoid habitus with gynecoid fat distribution and shape, normal to tall stature, moderate to severe intellectual disability, distinctive facial features (e.g. prominent forehead, epicanthic folds, broad nasal bridge, prognathism), gynecomastia, hypogonadism, cryptorchidism, small penis and behavioral abnormalities (incl. solitary, passive disposition but prone to aggressive outbursts, autistic). Skeletal malformations, such as delayed bone age, fifth finger clinodactyly, elbow malformations and slow molar development, may also be associated.
49,XXXYY syndrome
Hirschsprung disease and intellectual disability due to 2q22 microdeletion
Hirschsprung disease and intellectual disability due to del(2)(q22)
Hirschsprung disease and intellectual disability due to monosomy 2q22
Mowat-Wilson syndrome due to 2q22 microdeletion
Mowat-Wilson syndrome due to del(2)q(22)
Mowat-Wilson syndrome due to monosomy 2q22
Hirschsprung disease and intellectual disability due to a ZEB2 point mutation
Mowat-Wilson syndrome due to a ZEB2 point mutation
Blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome
Blepharophimosis types 1 and 2 due to a point mutation
Blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome
Blepharophimosis types 1 and 2 due to copy number variations
Blepharophimosis-epicanthus inversus-ptosis due to a CNV
Blepharophimosis-epicanthus inversus-ptosis due to copy number variations
Colorectal adenomatous polyposis due to monosomy 5q22.2
FAP due to monosomy 5q22.2
Familial adenomatous polyposis due to del(5)(q22.2)
Familial adenomatous polyposis due to monosomy 5q22.2
Familial polyposis coli due to monosomy 5q22.2
Familial adenomatous polyposis due to 5q22.2 microdeletion
3-M syndrome
Dolichospondylic dysplasia
Gloomy face syndrome
Le Merrer syndrome
Yakut short stature syndrome
3M syndrome is a primordial growth disorder characterized by low birth weight, reduced birth length, severe postnatal growth restriction, a spectrum of minor anomalies (including facial dysmorphism) and normal intelligence.
3M syndrome
Alagille syndrome due to del(20)(p12)
Alagille syndrome due to monosomy 20p12
Alagille-Watson syndrome due to monosomy 20p12
Arteriohepatic dysplasia due to monosomy 20p12
Syndromic bile duct paucity due to monosomy 20p12
Alagille syndrome due to 20p12 microdeletion
Alagille-Watson syndrome due to a JAG1 point mutation
Arteriohepatic dysplasia due to a JAG1 point mutation
Syndromic bile duct paucity due to a JAG1 point mutation
Alagille syndrome due to a JAG1 point mutation
Alagille-Watson syndrome due to a NOTCH2 point mutation
Arteriohepatic dysplasia due to a NOTCH2 point mutation
Syndromic bile duct paucity due to a NOTCH2 point mutation
Alagille syndrome due to a NOTCH2 point mutation
Duane-radial ray syndrome due to monosomy 20q13
Okihiro syndrome due to del(20)(q13)
Okihiro syndrome due to monosomy 20q13
Okihiro syndrome due to 20q13 microdeletion
Duane-radial ray syndrome due to a point mutation
Okihiro syndrome due to a point mutation
Kleefstra syndrome due to a point mutation
Bird-headed dwarfism, Montreal type
Microcephalic primordial dwarfism, Montreal type is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by severe short stature and craniofacial dysmorphism (microcephaly, narrow face with flat cheeks, ptosis, prominent nose with a convex ridge, low-set ears with small or absent lobes, high-arched/cleft palate, micrognathia), associated with premature graying and loss of scalp hair, redundant, dry and wrinkled skin of the palms, premature senility and varying degrees of intellectual disability. Cryptorchidism and skeletal anomalies may also be observed. There have been no further descriptions in the literature since 1970.
Microcephalic primordial dwarfism, Montreal type
Partial monosomy of chromosome 1
Partial deletion of chromosome 1
Partial monosomy of chromosome 2
Partial deletion of chromosome 2
Partial monosomy of chromosome 3
Partial deletion of chromosome 3
Partial monosomy of chromosome 4
Partial deletion of chromosome 4
Partial monosomy of chromosome 5
Partial deletion of chromosome 5
Partial monosomy of chromosome 6
Partial deletion of chromosome 6
Partial monosomy of chromosome 7
Partial deletion of chromosome 7
Partial monosomy of chromosome 8
Partial deletion of chromosome 8
Partial monosomy of chromosome 9
Partial deletion of chromosome 9
Partial monosomy of chromosome 10
Partial deletion of chromosome 10
Partial monosomy of chromosome 11
Partial deletion of chromosome 11
Partial deletion of chromosome 12q
Partial monosomy of chromosome 12q
Partial monosomy of the long arm of chromosome 12
Partial deletion of the long arm of chromosome 12
Partial monosomy of chromosome 16
Partial deletion of chromosome 16
Partial monosomy of chromosome 17
Partial deletion of chromosome 17
Partial monosomy of chromosome 18
Partial deletion of chromosome 18
Partial monosomy of chromosome 19
Partial deletion of chromosome 19
Partial monosomy of chromosome 20
Partial deletion of chromosome 20
Partial deletion of chromosome 1p
Partial monosomy of chromosome 1p
Partial monosomy of the short arm of chromosome 1
Partial deletion of the short arm of chromosome 1
Partial deletion of chromosome 2p
Partial monosomy of chromosome 2p
Partial monosomy of the short arm of chromosome 2
Partial deletion of the short arm of chromosome 2
Partial deletion of chromosome 3p
Partial monosomy of chromosome 3p
Partial monosomy of the short arm of chromosome 3
Partial deletion of the short arm of chromosome 3
Partial deletion of chromosome 4p
Partial monosomy of chromosome 4p
Partial monosomy of the short arm of chromosome 4
Partial deletion of the short arm of chromosome 4
Partial deletion of chromosome 5p
Partial monosomy of chromosome 5p
Partial monosomy of the short arm of chromosome 5
Partial deletion of the short arm of chromosome 5
Mseleni joint disease
Mseleni joint disease (MJD) is a rare and crippling chondrodysplasia, reported mainly in the Maputaland region in northern Kwazulu Natal, South Africa, characterized by a bilateral and uniform arthropathy of the joints that primarily and most severely affects the hip but that can also affect many other joints (i.e. knees, ankles, wrists, shoulders, elbows), and that manifests with pain and stiffness that progressively limits joint movement, eventually compromising a patient's ability to walk. Severe short staure and brachydactyly have been reported in a few patients with MJD.
Brachydactylous dwarfism, Mseleni type
Partial deletion of chromosome 6p
Partial monosomy of chromosome 6p
Partial monosomy of the short arm of chromosome 6
Partial deletion of the short arm of chromosome 6
Partial deletion of chromosome 7p
Partial monosomy of chromosome 7p
Partial monosomy of the short arm of chromosome 7
Partial deletion of the short arm of chromosome 7
Partial deletion of chromosome 8p
Partial monosomy of chromosome 8p
Partial monosomy of the short arm of chromosome 8
Partial deletion of the short arm of chromosome 8
Partial deletion of chromosome 9p
Partial monosomy of chromosome 9p
Partial monosomy of the short arm of chromosome 9
Partial deletion of the short arm of chromosome 9
Partial deletion of chromosome 10p
Partial monosomy of chromosome 10p
Partial monosomy of the short arm of chromosome 10
Partial deletion of the short arm of chromosome 10
Partial deletion of chromosome 11p
Partial monosomy of chromosome 11p
Partial monosomy of the short arm of chromosome 11
Partial deletion of the short arm of chromosome 11
Partial deletion of chromosome 16p
Partial monosomy of chromosome 16p
Partial monosomy of the short arm of chromosome 16
Partial deletion of the short arm of chromosome 16
Partial deletion of chromosome 17p
Partial deletion of the short arm of chromosome 17
Partial monosomy of chromosome 17p
Partial monosomy of the short arm of chromosome 17
Partial deletion of chromosome 18p
Partial monosomy of chromosome 18p
Partial monosomy of the short arm of chromosome 18
Partial deletion of the short arm of chromosome 18
Partial deletion of chromosome 19p
Partial monosomy of chromosome 19p
Partial monosomy of the short arm of chromosome 19
Partial deletion of the short arm of chromosome 19
Partial deletion of chromosome 20p
Partial deletion of the short arm of chromosome 20
Partial monosomy of chromosome 20p
Pure partial 20p deletion
Partial monosomy of the short arm of chromosome 20
Severe dystrophinopathy, Duchenne and Becker type
Duchenne and Becker muscular dystrophies (DMD and BMD) are neuromuscular diseases characterized by progressive muscle wasting and weakness due to degeneration of skeletal, smooth and cardiac muscle.
Duchenne and Becker muscular dystrophy
Partial deletion of chromosome 1q
Partial monosomy of chromosome 1q
Partial monosomy of the long arm of chromosome 1
Partial deletion of the long arm of chromosome 1
Partial deletion of chromosome 2q
Partial monosomy of chromosome 2q
Partial monosomy of the long arm of chromosome 2
Partial deletion of the long arm of chromosome 2
Partial deletion of chromosome 3q
Partial monosomy of chromosome 3q
Partial monosomy of the long arm of chromosome 3
Partial deletion of the long arm of chromosome 3
Partial deletion of chromosome 4q
Partial monosomy of chromosome 4q
Partial monosomy of the long arm of chromosome 4
Partial deletion of the long arm of chromosome 4
Partial deletion of chromosome 5q
Partial monosomy of chromosome 5q
Partial monosomy of the long arm of chromosome 5
Partial deletion of the long arm of chromosome 5
Partial deletion of chromosome 6q
Partial monosomy of chromosome 6q
Partial monosomy of the long arm of chromosome 6
Partial deletion of the long arm of chromosome 6
Partial deletion of chromosome 7q
Partial monosomy of chromosome 7q
Partial monosomy of the long arm of chromosome 7
Partial deletion of the long arm of chromosome 7
Partial deletion of chromosome 8q
Partial monosomy of chromosome 8q
Partial monosomy of the long arm of chromosome 8
Partial deletion of the long arm of chromosome 8
Partial deletion of chromosome 9q
Partial deletion of the long arm of chromosome 9
Partial monosomy of chromosome 9q
Partial monosomy of the long arm of chromosome 9
Partial deletion of chromosome 10q
Partial deletion of the long arm of chromosome 10
Partial monosomy of chromosome 10q
Partial monosomy of the long arm of chromosome 10
Partial deletion of chromosome 11q
Partial monosomy of chromosome 11q
Partial monosomy of the long arm of chromosome 11
Partial deletion of the long arm of chromosome 11
use http://www.orpha.net/ORDO/Orphanet_331244 with label: Other immunodeficiency syndrome with predominantly antibody defects
OBSOLETE: Low birth weight-dwarfism-dysgammaglobulinemia syndrome
Partial deletion of chromosome 13q
Partial monosomy of chromosome 13q
Partial monosomy of the long arm of chromosome 13
Partial deletion of the long arm of chromosome 13
Partial deletion of chromosome 14q
Partial monosomy of chromosome 14q
Partial monosomy of the long arm of chromosome 14
Partial deletion of the long arm of chromosome 14
Partial deletion of chromosome 15q
Partial monosomy of chromosome 15q
Partial monosomy of the long arm of chromosome 15
Partial deletion of the long arm of chromosome 15
Partial deletion of chromosome 16q
Partial monosomy of chromosome 16q
Partial monosomy of the long arm of chromosome 16
Partial deletion of the long arm of chromosome 16
Partial deletion of chromosome 17q
Partial monosomy of chromosome 17q
Partial monosomy of the long arm of chromosome 17
Partial deletion of the long arm of chromosome 17
Partial deletion of chromosome 18q
Partial monosomy of chromosome 18q
Partial monosomy of the long arm of chromosome 18
Partial deletion of the long arm of chromosome 18
Partial deletion of chromosome 19q
Partial monosomy of chromosome 19q
Partial monosomy of the long arm of chromosome 19
Partial deletion of the long arm of chromosome 19
Partial deletion of chromosome 20q
Partial monosomy of chromosome 20q
Partial monosomy of the long arm of chromosome 20
Partial deletion of the long arm of chromosome 20
Partial deletion of chromosome 21q
Partial monosomy of chromosome 21q
Partial monosomy of the long arm of chromosome 21
Partial deletion of the long arm of chromosome 21
Partial deletion of chromosome 22q
Partial monosomy of chromosome 22q
Partial monosomy of the long arm of chromosome 22
Partial deletion of the long arm of chromosome 22
Partial trisomy of chromosome 1
Partial duplication of chromosome 1
Partial trisomy of chromosome 2
Partial duplication of chromosome 2
Partial trisomy of chromosome 3
Partial duplication of chromosome 3
Partial trisomy of chromosome 4
Partial duplication of chromosome 4
Partial duplication/triplication of chromosome 5
Partial trisomy/tetrasomy of chromosome 5
Geleophysic dwarfism
Geleophysic dysplasia is a rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as "happy'').
Geleophysic dysplasia
OBSOLETE: Hypopituitarism-short stature-skeletal anomalies syndrome
Partial trisomy of chromosome 6
Partial duplication of chromosome 6
Partial trisomy of chromosome 7
Partial duplication of chromosome 7
Partial trisomy of chromosome 8
Partial duplication of chromosome 8
Partial duplication/triplication of chromosome 9
Partial trisomy/tetrasomy of chromosome 9
Partial trisomy of chromosome 10
Partial duplication of chromosome 10
Partial trisomy of chromosome 11
Partial duplication of chromosome 11
Partial duplication/triplication of chromosome 12p
Partial duplication/triplication of the short arm of chromosome 12
Partial trisomy/tetrasomy of chromosome 12p
Partial trisomy/tetrasomy of the short arm of chromosome 12
Partial trisomy of chromosome 16
Partial duplication of chromosome 16
Partial trisomy of chromosome 17
Partial duplication of chromosome 17
Partial duplication/triplication of chromosome 18
Partial trisomy/tetrasomy of chromosome 18
Partial trisomy of chromosome 19
Partial duplication of chromosome 19
Partial duplication of chromosome 20
Partial trisomy of chromosome 20
Partial duplication of chromosome 2p
Partial trisomy of chromosome 2p
Partial duplication of the short arm of chromosome 2
Partial duplication of chromosome 3p
Partial trisomy of chromosome 3p
Partial trisomy of the short arm of chromosome 3
Partial duplication of the short arm of chromosome 3
Partial duplication of chromosome 4p
Partial trisomy of chromosome 4p
Partial trisomy of the short arm of chromosome 4
Partial duplication of the short arm of chromosome 4
Partial duplication/triplication of chromosome 5p
Partial duplication/triplication of the short arm of chromosome 5
Partial trisomy/tetrasomy of chromosome 5p
Partial trisomy/tetrasomy of the short arm of chromosome 5
Partial duplication of chromosome 6p
Partial trisomy of chromosome 6p
Partial trisomy of the short arm of chromosome 6
Partial duplication of the short arm of chromosome 6
Partial duplication of chromosome 7p
Partial trisomy of chromosome 7p
Partial trisomy of the short arm of chromosome 7
Partial duplication of the short arm of chromosome 7
Partial duplication of chromosome 8p
Partial trisomy of chromosome 8p
Partial trisomy of the short arm of chromosome 8
Partial duplication of the short arm of chromosome 8
Partial duplication of chromosome 9p
Partial duplication of the short arm of chromosome 9
Partial trisomy of chromosome 9p
Partial trisomy of the short arm of chromosome 9
Partial duplication of chromosome 10p
Partial trisomy of chromosome 10p
Partial trisomy of the short arm of chromosome 10
Partial duplication of the short arm of chromosome 10
Partial duplication of chromosome 11p
Partial trisomy of chromosome 11p
Partial trisomy of the short arm of chromosome 11
Partial duplication of the short arm of chromosome 11
Partial duplication of chromosome 16p
Partial trisomy of chromosome 16p
Partial trisomy of the short arm of chromosome 16
Partial duplication of the short arm of chromosome 16
Partial duplication of chromosome 17p
Partial trisomy of chromosome 17p
Partial trisomy of the short arm of chromosome 17
Partial duplication of the short arm of chromosome 17
Partial duplication/triplication of chromosome 18p
Partial duplication/triplication of the short arm of chromosome 18
Partial trisomy/tetrasomy of chromosome 18p
Partial trisomy/tetrasomy of the short arm of chromosome 18
Partial duplication of chromosome 1q
Partial trisomy of chromosome 1q
Partial trisomy of the long arm of chromosome 1
Partial duplication of the long arm of chromosome 1
Partial duplication of chromosome 2q
Partial trisomy of chromosome 2q
Partial trisomy of the long arm of chromosome 2
Partial duplication of the long arm of chromosome 2
Partial duplication of chromosome 3q
Partial trisomy of chromosome 3q
Partial duplication of the long arm of chromosome 3
Partial duplication of chromosome 4q
Partial trisomy of chromosome 4q
Partial trisomy of the long arm of chromosome 4
Partial duplication of the long arm of chromosome 4
Partial duplication of chromosome 5q
Partial duplication of the long arm of chromosome 5
Partial trisomy of chromosome 5q
Partial trisomy of the long arm of chromosome 5
Partial duplication of chromosome 6q
Partial trisomy of chromosome 6q
Partial trisomy of the long arm of chromosome 6
Partial duplication of the long arm of chromosome 6
Partial duplication of chromosome 7q
Partial trisomy of chromosome 7q
Partial trisomy of the long arm of chromosome 7
Partial duplication of the long arm of chromosome 7
Partial duplication of chromosome 8q
Partial trisomy of chromosome 8q
Partial trisomy of the long arm of chromosome 8
Partial duplication of the long arm of chromosome 8
Partial duplication of chromosome 9q
Partial duplication of the long arm of chromosome 9
Partial trisomy of chromosome 9q
Partial trisomy of the long arm of chromosome 9
Partial duplication of chromosome 10q
Partial trisomy of chromosome 10q
Partial trisomy of the long arm of chromosome 10
Partial duplication of the long arm of chromosome 10
Partial duplication of chromosome 11q
Partial trisomy of chromosome 11q
Partial trisomy of the long arm of chromosome 11
Partial duplication of the long arm of chromosome 11
Partial duplication of chromosome 13q
Partial trisomy of chromosome 13q
Partial trisomy of the long arm of chromosome 13
Partial duplication of the long arm of chromosome 13
Partial duplication of chromosome 14q
Partial trisomy of chromosome 14q
Partial trisomy of the long arm of chromosome 14
Partial duplication of the long arm of chromosome 14
Partial duplication of chromosome 15q
Partial trisomy of chromosome 15q
Partial trisomy of the long arm of chromosome 15
Partial duplication of the long arm of chromosome 15
Partial duplication of chromosome 16q
Partial duplication of the long arm of chromosome 16
Partial trisomy of chromosome 16q
Partial trisomy of the long arm of chromosome 16
Partial duplication of chromosome 17q
Partial trisomy of chromosome 17q
Partial trisomy of the long arm of chromosome 17
Partial duplication of the long arm of chromosome 17
Partial duplication of chromosome 18q
Partial duplication of the long arm of chromosome 18
Partial trisomy of chromosome 18q
Partial trisomy of the long arm of chromosome 18
Partial duplication of chromosome 19q
Partial trisomy of chromosome 19q
Partial trisomy of the long arm of chromosome 19
Partial duplication of the long arm of chromosome 19
Partial duplication of chromosome 20q
Partial duplication of the long arm of chromosome 20
Partial trisomy of chromosome 20q
Partial trisomy of the long arm of chromosome 20
LGMD
Limb-girdle muscular dystrophy (LGMD) is a heterogeneous group of muscular dystrophies characterized by proximal weakness affecting the pelvic and shoulder girdles. Cardiac and respiratory impairment may be observed in certain forms of LGMD.
Limb-girdle muscular dystrophy
Partial duplication of chromosome 22q
Partial trisomy of chromosome 22q
Partial trisomy of the long arm of chromosome 22
Partial duplication of the long arm of chromosome 22
Mesomelic dysplasia, Kozlowski-Reardon type
Mesomelic dysplasia, Reardon type
Reardon-Hall-Slaney syndrome
Mesomelic dwarfism-cleft palate-camptodactyly syndrome is characterised by mesomelic shortening and bowing of the limbs, camptodactyly, skin dimpling and cleft palate with retrognathia and mandibular hypoplasia. It has been described in a brother and sister born to consanguineous parents. Transmission is autosomal recessive.
Mesomelic dwarfism-cleft palate-camptodactyly syndrome
Mesomelic dwarfism, Langer type
Langer mesomelic dysplasia (LMD) is characterized by severe disproportionate short stature with mesomelic and rhizomelic shortening of the upper and lower limbs.
Langer mesomelic dysplasia
GSD type 15
GSD type XV
GSD with severe cardiomyopathy due to glycogenin deficiency
Glycogen storage disease type 15
Glycogen storage disease type XV
Glycogenosis type 15
Glycogenosis type XV
Glycogenosis with severe cardiomyopathy due to glycogenin deficiency
Glycogen storage disease type 15 is an extremely rare genetic glycogen storage disease reported in one patient to date. Clinical signs included muscle weakness, cardiac arrhythmia associated with accumulation of abnormal storage material in the heart and glycogen depletion in skeletal muscle.
Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency
Mesomelic dwarfism, Nievergelt type
Nievergelt syndrome
Mesomelic dysplasia, Nievergelt type
Primary thymic epithelial neoplasm type A
Primary thymic epithelial tumor type A
Thymoma type A
Primary thymic epithelial neoplasm type B
Primary thymic epithelial tumor type B
Thymoma type B
Primary thymic epithelial neoplasm type AB
Primary thymic epithelial tumor type AB
Thymoma type AB
Well-differentiated thymic neuroendocrine carcinoma
Moderately-differentiated thymic neuroendocrine carcinoma
Poorly differentiated thymic neuroendocrine carcinoma
Microcornea-rod-cone dystrophy-cataract-posterior staphyloma syndrome
MRCS syndrome is a rare, genetic retinal dystrophy disorder characterized by bilateral microcornea, rod-cone dystrophy, cataracts and posterior staphyloma, in the absence of other systemic features. Night blindness is typically the presenting manifestation and nystagmus, strabismus, astigmatism and angle closure glaucoma may be associated findings. Progressive visual acuity deterioration, due to pulverulent-like cataracts, results in poor vision ranging from no light perception to 20/400.
MRCS syndrome
ATR-X-related syndrome
Reinhardt-Pfeiffer mesomelic dysplasia
Reinhardt-Pfeiffer syndrome
Mesomelic dwarfism, Reinhardt-Pfeiffer type is characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula.
Mesomelic dwarfism, Reinhardt-Pfeiffer type
Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome is a rare, genetic disorder of thiamine metabolism and transport characterized by infantile spasms progressing to symptomatic generalized or partial seizures, severe global developmental delay, progressive brain atrophy, and bilateral thalamic and basal ganglia lesions.
Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome
Angiosarcoma
Bartter syndrome type 5
Bartter syndrome type V
Bartter syndrome with hypocalcemia is a type of Bartter syndrome (see this term) characterized by hypocalcemia, hypomagnesemia and hypoparathyroidism along with features of Henle's loop dysfunction (polyuria, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II). Bartter syndrome with hypocalcemia is a very rare manifestation of autosomal dominant hypocalcemia (ADH; see this term)
Bartter syndrome with hypocalcemia
Nevus fusculoceruleus ophthalmomaxillaris
Nevus of Ota is an oculodermal melanocytosis more commonly found in Asian and African populations, usually present at birth and characterized by a usually unilateral, bluish gray, patchy, speckled pigmentation (that may progressively enlarge and darken) affecting the skin of the face along the distribution of the ophthalmic and maxillary divisions of the trigeminal nerve (periorbital region, temple, forehead, malar area, nose). In 2/3 cases the ipsilateral sclera is affected. Nevus of Ota usually remains stable once adulthood is reached but an increased risk of glaucoma and uveal melanoma may be observed. Extracutaneous lesions may also occur in cornea, retina, tympanum, nasal mucosa, pharynx, palate. Nevus of Ota occurs as solitary conditions but seldom may occur together with the nevus of Ito or nevus spilus.
Nevus of Ota
Nevus fuscocaeruleus acromiodeltoideus
Nevus of Ito is a benign dermal melanocytosis occurring most frequently in the Asian populations and characterized by unilateral, asymptomatic, blue, gray or brown skin pigmentation within the acromioclavicular and upper chest area (involving the side of the neck, the supraclavicular and scapular areas, and the shoulder region). It is usually diagnosed in early infancy and in early adolescence. Nevus of Ito may progressively enlarge and darken in color (particularly with puberty) and its appearance usually remains stable once adulthood is reached. Spontaneous regression does not occur. Malignant melanoma has rarely been reported within a nevus of Ito. It shares the clinical features of nevus of Ota, except its anatomic location and in rare occasions, mayoccur together with the latter.
Nevus of Ito
Congenital smooth muscle hamartoma (CSMH) is a rare cutaneous hamartomatous lesion most often located on the lumbosacral area or proximal limbs (but rarely on atypical areas such as scalp, eyelid or foot) and characterized by a disorganized proliferation of smooth muscle fibres of arrector pili presenting usually as a localized skin-colored or hyperpigmented plaque (up to 10 cm in diameter) with prominent vellus hairs (most common classic form) or less commonly by multiple skin-colored papules that can coalesce to form irregularly shaped plaques. With time, hyperpigmentation and vellus hairs usually diminish and neither malignant transformation nor associated systemic involvement has been reported.
Congenital smooth muscle hamartoma
Neuroacanthocytosis (NA) syndromes are a group of genetic diseases characterized by the association of red blood cell acanthocytosis (deformed erythrocytes with spike-like protrusions) and progressive degeneration of the basal ganglia.
Neuroacanthocytosis
Hyperinsulinemic hypoglycemia due to HNF4A deficiency
Hyperinsulinism due to HNF4A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by macrosomia, transient or persistent hyperinsulinemic hypoglycemia (HH), responsiveness to diazoxide and a propensity to develop maturity-onset diabetes of the young subtype 1 (MODY-1; see this term).
Hyperinsulinism due to HNF4A deficiency
Hyperinsulinemic hypoglycemia due to INSR deficiency
Hyperinsulinemic hypoglycemia due to insulin receptor deficiency
Hyperinsulinemic hypoglycemia due to INSR deficiency is a very rare autosomal dominant form of familial hyperinsulinism characterized clinically in the single reported family by postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio, and a variable age of onset.
Hyperinsulinism due to INSR deficiency
Chondrodysplasia with congenital joint dislocations, CHST3 type
SDCD, CHST3 type
Spondyloepiphyseal dysplasia with congenital joint dyslocations, CHST3 type
CHST3-related skeletal dysplasia is a very rare bone disorder characterized clinically by short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis; and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal.
CHST3-related skeletal dysplasia
Fuchs heterochromic iridocyclitis (FHI) is an ocular disease of unknown etiology occurring in a very small percentage (0.5-6.2%) of uvietis cases, characterized by diffuse iris heterochromia or atrophy, keratic precipitates in the absence of synechiae, and in some cases evolving to glaucoma and vitreous opacities.
Fuchs heterochromic iridocyclitis
Acquired hypoprothrombinemia
Acquired prothrombin deficiency
Pseudo-Morquio syndrome type 2
Spondyloepiphyseal dysplasia, Maroteaux type is a very rare type of spondyloepiphyseal dysplasia (see this term) described in fewer than 10 patients to date and characterized clinically by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis.
Spondyloepiphyseal dysplasia, Maroteaux type
CDG syndrome type IIi
CDG-IIi
CDG2I
Carbohydrate deficient glycoprotein syndrome type IIi
Congenital disorder of glycosylation type 2i
Congenital disorder of glycosylation type IIi
COG5-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by moderate mental retardation with slow and inarticulate speech, truncal ataxia, and mild hypotonia.
COG5-CDG
Protein S acquired deficiency
CDG syndrome type Io
CDG-Io
CDG1O
Carbohydrate deficient glycoprotein syndrome type Io
Congenital disorder of glycosylation type 1o
Congenital disorder of glycosylation type Io
DPM3-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by muscle weakness, waddling gait and dilated cardiomyopathy (see this term).
DPM3-CDG
Metatropic dwarfism
Metatropic dysplasia (MTD) is a rare spondyloepimetaphyseal dysplasia characterized by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood.
Metatropic dysplasia
CDG syndrome type IIj
CDG-IIj
CDG2J
Carbohydrate deficient glycoprotein syndrome type IIj
Congenital disorder of glycosylation type 2j
Congenital disorder of glycosylation type IIj
COG4-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by seizures, some dysmorphic features, axial hyponia, slight peripheral hypertonia and hyperreflexia.
COG4-CDG
CDG syndrome type IIg
CDG-IIg
CDG2G
Carbohydrate deficient glycoprotein syndrome type IIg
Congenital disorder of glycosylation type 2g
Congenital disorder of glycosylation type IIg
COG1-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation and facial dysmorphism.
COG1-CDG
EPM3
PME type 3
Progressive myoclonic epilepsy due to KCTD7 deficiency
Progressive myoclonus epilepsy type 3
Progressive myoclonic epilepsy type 3
ANEC
Isolated ANE
Isolated acute necrotizing encephalopathy
Acute necrotizing encephalopathy of childhood is a rare neurologic disease characterized by a rapid onset of seizures, an altered state of consciousness, neurologic decline, and variable degrees of hepatic dysfunction following a respiratory or gastrointesitnal infection (e.g. mycoplasma, influenza virus) in a previously healthy child. Brain MRI of patients reveals bilateral, multiple, symmetrical lesions predominantly observed in thalami and brainstem, but also in periventricular white matter and cerebellum in some cases.
Acute necrotizing encephalopathy of childhood
Acral PSS
Acral deciduous skin
Localized PSS
Localized deciduous skin
Acral peeling skin syndrome (PSS) is a form of PSS (see this term) characterized by superficial peeling of the skin predominantly affecting the dorsa of the hands and feet.
Acral peeling skin syndrome
Generalized PSS
Generalized deciduous skin
Generalized peeling skin syndrome (PSS) is a form of PSS (see this term) presenting with a generalized distribution. It comprises two sub-types: the non-inflammatory (PSS type A) and the inflammatory (PSS type B) form (see these terms). PSS type A is characterized by generalized white scaling with superficial peeling of the skin, while PSS type B is characterized by superficial patchy peeling of the entire skin with underlying erythroderma, associated with pruritus, and atopy.
Generalized peeling skin syndrome
Generalized deciduous skin type A
Generalized peeling skin syndrome type A
Non-inflammatory generalized peeling skin syndrome type A.
Non-inflammatory peeling skin syndrome type A
PSS type A
Peeling skin syndrome (PSS) type A is a non inflammatory form of generalized PSS (see this term), a type of ichthyosis (see this term), characterized by generalized white scaling and superficial painless peeling of the skin.
Peeling skin syndrome type A
Generalized deciduous skin type B
Generalized peeling skin syndrome type B
Inflammatory peeling skin syndrome
PSS type B
Peeling skin syndrome (PSS) type B, also known as peeling skin disease (PSD), is a rare inflammatory form of ichthyosis (see this term) characterized by superficial patchy peeling of the entire skin with underlying erythroderma, pruritus, and atopy.
Peeling skin syndrome type B
Generalized deciduous skin type C
Generalized peeling skin syndrome type C
Peeling skin syndrome type C
MOPD types I and III
Microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type
Primordial microcephalic dwarfism, Crachami type
Taybi-Linder syndrome
Microcephalic osteodysplastic primordial dwarfism (MOPD) types 1 and 3 are characterized by intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, skeletal dysplasia, low-birth weight and brain anomalies. Although MOPD types 1 and 3 were originally described as two separate entities on the basis of radiological criteria (notably small differences in pelvic and long bone structure), later reports confirmed that the two forms represent different modes of expression of the same syndrome.
Microcephalic osteodysplastic primordial dwarfism types I and III
Familial multiple meningioma is a rare, benign neoplasm of the central nervous system characterized by the development of multiple or, rarely, solitary meningiomas in two or more blood relatives, without other apparent syndromic manifestations. Depending on the localization, growth rate and size of the tumors, patients can present with subtle, gradually worsening or abrupt and severe neurological compromise or can be completely asymptomatic.
Familial multiple meningioma
Natural killer (NK)-cell enteropathy is a benign NK-cell lymphoproliferative disease characterized by minor abdominal symptoms (abdominal pain, diverticulosis, constipation and reflux) due to NK cell-derived lesions in the mucosal layer of the gastrointestinal tract and often mistaken for NK or T-cell lymphoma (see these terms).
NK-cell enteropathy
use http://www.orpha.net/ORDO/Orphanet_79361 with label: Inherited epidermolysis bullosa
OBSOLETE: Hereditary epidermolysis bullosa associated with ocular features
MOPD type II
Majewski osteodysplastic primordial dwarfism type II
'Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is a form of microcephalic primordial dwarfism (MPD; see this term) characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease.'
Microcephalic osteodysplastic primordial dwarfism type II
Complex chromosomal rearrangement
X chromosome number anomaly
X chromosome number anomaly with female phenotype
X chromosome number anomaly with male phenotype
Polysomy of X chromosome
Partial monosomy of chromosome X
Partial deletion of chromosome X
Partial deletion of chromosome Xp
Partial deletion of the short arm of chromosome X
Partial monosomy of chromosome Xp
Partial monosomy of the short arm of chromosome X
Y chromosome number anomaly
X and Y chromosomal anomaly
Partial deletion of chromosome Xq
Partial monosomy of chromosome Xq
Partial monosomy of the long arm of chromosome X
Partial deletion of the long arm of chromosome X
c-myb
MYB proto-oncogene, transcription factor
Partial trisomy of chromosome X
Partial duplication of chromosome X
Partial duplication of chromosome Xp
Partial trisomy of chromosome Xp
Partial trisomy of the short arm of chromosome X
Partial duplication of the short arm of chromosome X
Partial duplication of chromosome Xq
Partial trisomy of chromosome Xq
Partial trisomy of the long arm of chromosome X
Partial duplication of the long arm of chromosome X
UPD(X)
Uniparental disomy of chromosome X
Du Pan syndrome
Fibular aplasia-complex brachydactyly syndrome
LGMD1B
Limb-girdle muscular dystrophy due to lamin A/C deficiency
Autosomal dominant limb-girdle muscular dystrophy type 1B (LGMD1B) is a subtype of autosomal dominant limb girdle muscular dystrophy characterized by a variable age of onset of progressive shoulder and hip girdle weakness, with inferior limbs usually being affected prior to upper limbs, and mild joint contractures. LGMD1B is also associated with cardiac dysrhythmias, including atrioventricular conduction blocks, and late-onset dilated cardiomyopathy, that may lead to sudden death.
Autosomal dominant limb-girdle muscular dystrophy type 1B
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_56304 with label: Atelosteogenesis type II
Lethal short-limb dwarfism, McAlister-Crane type
OBSOLETE: Micromelic dwarfism, Fryns type
14q22-q23 microdeletion syndrome
Del(14)(q22q23)
Monosomy 14q22-q23
Monosomy 14q22q23
14q22q23 microdeletion syndrome is a rare partial deletion of the long arm of chromosome 14 characterized by ocular anomalies (anopthalmia/microphthalmia, ptosis, hypertelorism, exophthalmos), pituitary anomalies (pituitary hypoplasia/aplasia with growth hormone deficiency and growth retardation) and hand/foot anomalies (polydactyly, short digits, pes cavus). Other clinical features may include muscular hypotonia, psychomotor development delay/intellectual disability, dysmorphic signs (facial asymmetry, microretrognathia, high-arched palate, ear anomalies), congenital genitourinary malformations, hearing impairment. Smaller 14q22 deletions may have variable expression.
14q22q23 microdeletion syndrome
Microcephalic primordial dwarfism, Toriello type is characterised by growth retardation with prenatal onset, cataracts, microcephaly, intellectual deficit, immune deficiency, delayed ossification and enamel hypoplasia. It has been described in two siblings. Transmission is autosomal recessive.
Microcephalic primordial dwarfism, Toriello type
Partial duplication of chromosome 1p
Partial trisomy of chromosome 1p
Partial duplication of the short arm of chromosome 1
Duplication 8p
Trisomy 8p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with highly variable phenotype ranging from no dysmorphic features and only mild intellectual disability to patients with severe developmental delay, neonatal hypotonia, short stature, profound intellectual disability, mild dysmorphic features (e.g. mild ptosis, hypertelorism, down-slanting palpebral fissures, broad nasal bridge, short, prominent philtrum, abnormal dentition) and structural brain abnormalities. Autism, epilepsy, and spastic paraplegia have also been reported.
Trisomy 8p
GLIALCAM
glial cell adhesion molecule
hepaCAM
hepatic and glial cell adhesion molecule
Osteoglophonic dwarfism
Osteoglophonic dwarfism (OGD) is characterized by dwarfism, severe craniofacial abnormalities and multiple unerupted teeth.
Osteoglosphonic dysplasia
lipase family member N
GSD due to liver phosphorylase kinase deficiency
GSD type 9A
GSD type 9C
GSD type IXa
GSD type IXc
Glycogen storage disease type 9A
Glycogen storage disease type 9C
Glycogen storage disease type IXa
Glycogen storage disease type IXc
Glycogenosis due to liver phosphorylase kinase deficiency
Glycogenosis type 9A
Glycogenosis type 9C
Glycogenosis type IXa
Glycogenosis type IXc
XLG
Glycogen storage disease (GSD) due to liver phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by hepatomegaly, growth retardation, and mild delay in motor development during childhood.
Glycogen storage disease due to liver phosphorylase kinase deficiency
Parastremmatic dwarfism is a very rare chondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs.
Parastremmatic dwarfism
ILD specific to childhood
Interstitial lung disease specific to childhood
acetylcholine receptor, nicotinic, alpha 7 (neuronal)
cholinergic receptor nicotinic alpha 7 subunit
Primary ILD specific to childhood
Primary interstitial lung disease specific to childhood
Primary ILD specific to childhood due to alveolar structure disorder
Primary interstitial lung disease specific to childhood due to alveolar structure disorder
Congenital PAP
Congenital pulmonary alveolar proteinosis
Congenital pulmonary alveolar proteinosis is a very rare primary interstitial lung disease due to pulmonary surfactant accumulation within the alveolar macrophages and alveoli, characterized by a variable clinical course ranging from an asymptomatic clinical presentation and spontaneous remission, to symptoms such as dyspnea and cough, or to severe respiratory failure.
Hereditary pulmonary alveolar proteinosis
Primary ILD specific to childhood due to alveolar vascular disorder
Primary interstitial lung disease specific to childhood due to alveolar vascular disorder
Congenital chylothorax is a rare, potentially life-threatening neonatal condition characterized by the accumulation of chyle within the pleural space leading to respiratory distress, malnutrition and immunological compromise, either immediately after birth or within the first few weeks of life. Congenital chylothorax is the most common cause of pleural effusion in neonates; it can occur primarily due to developmental anomalies of the lymphatic duct or can be associated with chromosomal anomalies (e.g. Noonan syndrome, Turner syndrome and Down syndrome), hydrops fetalis, mediastinal neuroblastoma and other congenital malformations.
Congenital chylothorax
Isolated pauciimmune pulmonary capillaritis is a small vessel vasculitis restricted to the lungs that may induce diffuse alveolar hemorrhage with dyspnea, anemia, chest pain, hemoptysis, bilateral and diffuse alveolar infiltrates at chest X-rays, without any underlying systemic disease. ANCA are frequently positive but could be negative.
Isolated pulmonary capillaritis
ILD specific to infancy
Interstitial lung disease specific to infancy
Secondary ILD specific to childhood associated with a systemic disease
Secondary interstitial lung disease specific to childhood associated with a systemic disease
Secondary ILD specific to childhood associated with a connective tissue disease
Secondary interstitial lung disease specific to childhood associated with a connective tissue disease
Secondary ILD specific to childhood associated with a systemic vasculitis
Secondary interstitial lung disease specific to childhood associated with a systemic vasculitis
Secondary ILD specific to childhood associated with a granulomatous disease
Secondary interstitial lung disease specific to childhood associated with a granulomatous disease
Secondary ILD specific to childhood associated with a metabolic disease
Secondary interstitial lung disease specific to childhood associated with a metabolic disease
Histiocytosis X specific to childhood
Langerhans cell granulomatosis specific to childhood
Langerhans cell histiocytosis specific to childhood
ILD specific to adulthood
Interstitial lung disease specific to adulthood
Primary ILD specific to adulthood
Primary interstitial lung disease specific to adulthood
Secondary ILD specific to adulthood associated with a systemic disease
Secondary interstitial lung disease specific to adulthood associated with a systemic disease
Histiocytosis X specific to adulthood
Langerhans cell granulomatosis specific to adulthood
Langerhans cell histiocytosis specific to adulthood
ILD in childhood and adulthood
Interstitial lung disease in childhood and adulthood
Primary ILD in childhood and adulthood
Primary interstitial lung disease in childhood and adulthood
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_2995 with label: Baraitser-Winter cerebrofrontofacial syndrome
Short stature-intellectual disability-eye anomalies-cleft lip/palate syndrome
Primary ILD in childhood and adulthood due to alveolar structure disorder
Primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder
Primary ILD in childhood and adulthood due to alveolar vascular disorder
Primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorder
Secondary ILD in childhood and adulthood
Secondary interstitial lung disease in childhood and adulthood
Secondary ILD in childhood and adulthood associated with a systemic disease
Secondary interstitial lung disease in childhood and adulthood associated with a systemic disease
Histiocytosis X in childhood and adulthood
Langerhans cell granulomatosis in childhood and adulthood
Langerhans cell histiocytosis in childhood and adulthood
Secondary ILD in childhood and adulthood associated with a metabolic disease
Secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease
Secondary ILD in childhood and adulthood associated with a systemic vasculitis
Secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis
Drug or radiation exposure-related interstitial lung disease
Exposure-related interstitial lung disease
Genetic ILD
Genetic interstitial lung disease
Limb-girdle muscular dystrophy due to caveolin-3 deficiency
Autosomal dominant limb-girdle muscular dystrophy type 1C (LGMD1C) is a subtype of autosomal dominant limb girdle muscular dystrophy characterized by a childhood to adulthood onset of progressive, mild-to-moderate proximal muscle weakness, calf hypertrophy, and variable muscle cramping/stiffness or myalgia, after exercise. A positive Gowers sign and elevated creatine kinase serum levels are frequently observed. Initial motor milestones are usually normal and muscle rippling may be observed. Respiratory and cardiac anomalies are generally not associated with LGMD1C.
Autosomal dominant limb-girdle muscular dystrophy type 1C
OBSOLETE: Dwarfism-intellectual disability-eye abnormality syndrome
serine protease 56
RNU4ATAC1
U4atac
RNA, U4atac small nuclear (U12-dependent splicing)
Osteochondrodysplatic dwarfism-deafness-retinitis pigmentosa syndrome
Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome is characterized by severe dwarfism, progressive scoliosis and bilateral dislocation of the hip, associated with sensorineural deafness and retinitis pigmentosa. Radiographs show diffuse osteoporosis, severe bone-age delay and dysplasia of the femoral head. It has been described in two patients. Transmission is autosomal dominant variable penetrance.
Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_1159 with label: Progressive pseudorheumatoid arthropathy of childhood
CI-42k
complex I 42kDa subunit
NADH:ubiquinone oxidoreductase subunit A10
SPATA34
spermatogenesis associated 34
dpy-19 like 2
EPC-1
PIG35
alpha-2 antiplasmin
pigment epithelium-derived factor
proliferation-inducing protein 35
serpin family F member 1
MRT14
TER
trans-2,3-enoyl-CoA reductase
Thanatophoric dwarfism
Thanatophoric dysplasia (TD) is a severe and generally lethal skeletal dysplasia presenting in the prenatal period and characterized by micromelia, macrocephaly, narrow thorax, and distinctive facial features. It includes TD, type 1 (TD1) and TD, type 2 (TD2) (see these terms), that can be differentiated from each other by femur and skull shape.
Thanatophoric dysplasia
DFNA4B
carcinoembryonic antigen related cell adhesion molecule 16
processing of precursors 1
POP1 homolog, ribonuclease P/MRP subunit
Lenz-Majewski hyperostotic dwarfism is an extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis laxa and progressive bone sclerosis.
Lenz-Majewski hyperostotic dwarfism
LGMD1A
Limb-girdle muscular dystrophy due to myotilin deficiency
Autosomal dominant limb-girdle muscular dystrophy type 1A (LGMD1A) is a subtype of autosomal dominant limb girdle muscular dystrophy characterized by an adult onset of proximal shoulder and hip girdle weakness (that later progresses to include distal weakness), nasal speech and dysarthria. Other frequent findings include tightened heel cords, reduced deep-tendon reflexes and elevated creatine kinase serum levels. Respiratory failure, as well as mild facial weakness and dysphagia, may also be observed.
Autosomal dominant limb-girdle muscular dystrophy type 1A
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_2616 with label: 3M syndrome
CD217
CDw217
IL-17RA
hIL-17R
interleukin 17 receptor A
IL-17F
ML-1
ML1
interleukin 17F
GluN2B
glutamate ionotropic receptor NMDA type subunit 2B
ANT-1
Prp6
RP60
SNRNP102
TOM
hPrp6
pre-mRNA processing factor 6
TCAB1
WD-encoding RNA antisense to p53
telomerase cajal body protein 1
WD repeat containing antisense to TP53
KARS1
KARS2
lysine tRNA ligase
lysyl-tRNA synthetase
Nasodigitoacoustic syndrome
Keipert syndrome is a rare multiple congenital anomalies syndrome characterized by facial dysmorphism (hypertelorism, broad and high nasal bridge, depressed nasal ridge, short columella, underdeveloped maxilla, and prominent cupid-bow upper lip vermillion), mild to severe congenital sensorineural hearing loss, and skeletal abnormalities consisting of brachytelephalangy and broad thumbs and halluces with large, rounded epiphyses. Additional manifestations that have been reported include pulmonary valve stenosis, voice hoarseness and renal agenesis.
Keipert syndrome
Deafness-cataract-skeletal anomalies syndrome
Sensorineural hearing loss-cataract-skeletal anomalies-cardiomyopathy syndrome
Nathalie syndrome is characterised by deafness, cataract, muscular atrophy, skeletal abnormalities, growth retardation, underdeveloped secondary sexual characteristics, and electrocardiographic abnormalities. It has been described in a Dutch family: in three sisters (one named Nathalie) and their brother.
Nathalie syndrome
Congenital mesoblastic nephroma
This syndrome, associating familial adult medullary cystic disease with spastic quadriparesis has been described in two cases so far. Renal transplantation was successful in those two patients.
Adult familial nephronophthisis-spastic quadriparesia syndrome
Edwards-Patton-Dilly syndrome
Nephropathy-deafness-hyperparathyroidism syndrome is characterised by renal failure without haematuria, parathyroid hyperplasia and sensorineural deafness. It has been described in five children born to consanguineous patents. The mode of inheritance appears to be autosomal recessive.
Nephropathy-deafness-hyperparathyroidism syndrome
Braun-Bayer syndrome
Nephrosis-deafness-urinary tract-digital malformations syndrome is characterised by anomalies of the urinary tract, thumbs and big toes, deafness and nephrosis. It has been described in five brothers. The mode of transmission has not been clearly established but seems to be either autosomal recessive or X-linked dominant.
Nephrosis-deafness-urinary tract-digital malformations syndrome
LGMD2A
Limb-girdle muscular dystrophy due to calpain deficiency
Primary calpainopathy
Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMD2A) is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by a variable age of onset of progressive, typically symmetrical and selective weakness and atrophy of proximal shoulder- and pelvic-girdle muscles (gluteus maximus, thigh adductors, and muscles of the posterior compartment of the limbs are most commonly affected) without cardiac or facial involvement. Clinical manifestations include exercise intolerance, a waddling gait, scapular winging and calf pseudo-hypertrophy.
Autosomal recessive limb-girdle muscular dystrophy type 2A
Microcoria-congenital nephrosis syndrome
Pierson syndrome is characterised by the association of congenital nephrotic syndrome and ocular anomalies with microcoria.
Pierson syndrome
CDGAP
Rho GTPase activating protein 31
3-phosphoglycerate dehydrogenase deficiency, neonatal form
Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism.
Neu-Laxova syndrome
Pet191
cytochrome c oxidase assembly factor 5
CGI-132
mitochondrial ribosomal protein S16
EF-TuMT
EFTU
EFTu
Tu translation elongation factor, mitochondrial
Freire Maia-Pinheiro-Opitz syndrome
Neurofaciodigitorenal syndrome is a rare multiple developmental anomalies syndrome characterized by neurological abnormalities (including megalencephaly, hypotonia, intellectual disability, abnormal EEG), dysmorphic facial features (high prominent forehead, grooved nasal tip, ptosis, ear anomalies) and acrorenal defects (such as triphalangism, broad halluces, unilateral renal agenesis). Additionally, intrauterine growth restriction, short stature and congenital heart defects may be associated. There have been no further descriptions in the literature since 1997.
Neurofaciodigitorenal syndrome
ATP synthase F1 subunit epsilon
Cyprus facial-neuromusculoskeletal syndrome is an exceedingly rare, genetic malformation syndrome characterized by a striking facial appearance, variable skeletal deformities, and neurological defects.
Cyprus facial-neuromusculoskeletal syndrome
trnV
mitochondrially encoded tRNA valine
use http://www.orpha.net/ORDO/Orphanet_314822 with label: Primary renal tubular acidosis
OBSOLETE: Neuroaxonal dystrophy-renal tubular acidosis syndrome
Oerter-Friedman-Anderson syndrome
Neuroectodermal-endocrine syndrome is characterised by a combination of endocrine and neuroectodermal abnormalities, including low growth hormone levels, delayed puberty, type II diabetes mellitus, mild intellectual deficit, sensorineural deafness, characteristic facial appearance and alopecia. It has been described in four sibs from Myanmar.
Neuroectodermal-endocrine syndrome
Peripheral neuroepithelioma is a rare noncentral nervous system tumor with evidence of primitive neuroectodermal differentiation.
Neuroepithelioma
Familial café-au-lait spots
Multiple café-au-lait spots
Multiple café-au-lait syndrome
NF6
Neurofibromatosis type 6 (NF6), also referred as café-au-lait spots syndrome, is a cutaneous disorder characterized by the presence of several café-au-lait (CAL) macules without any other manifestations of neurofibromatosis or any other systemic disorder.
Neurofibromatosis type 6
Infantile axonal neuropathy
Adenomucinosis
Gelatinous ascites
PMP
Pseudomyxoma peritonei is characterized by disseminated intra-peritoneal mucinous tumors and mucinous ascites in the abdomen and pelvis.
Pseudomyxoma peritonei
Glutaric acidemia type 2
Glutaric aciduria type 2
MAD deficiency
Multiple acyl-CoA dehydrogenation deficiency (MADD) is a disorder of fatty acid and amino acid oxidation and is a clinically heterogeneous disorder ranging from a severe neonatal presentation with metabolic acidosis, cardiomyopathy and liver disease, to a mild childhood/adult disease with episodic metabolic decompensation, muscle weakness, and respiratory failure.
Multiple acyl-CoA dehydrogenase deficiency
ACADS deficiency
SCAD deficiency
SCADD
Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a very rare inborn error of mitochondrial fatty acid oxidation characterized by variable manifestations ranging from asymptomatic individuals (in most cases) to those with failure to thrive, hypotonia, seizures, developmental delay and progressive myopathy.
Short chain acyl-CoA dehydrogenase deficiency
VLCAD deficiency
VLCADD
Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (VLCADD) is an inherited disorder of mitochondrial long-chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis.
Very long chain acyl-CoA dehydrogenase deficiency
LGMD2B
Limb-girdle muscular dystrophy due to dysferlin deficiency
Autosomal recessive limb-girdle muscular dystrophy type 2B (LGMD2B) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by an onset in late adolescence or early adulthood of slowly progressive, proximal weakness and atrophy of shoulder and pelvic girdle muscles. Cardiac and respiratory muscles are not involved. Hypertrophy of the calf muscles and highly elevated serum creatine kinase levels are frequently observed.
Autosomal recessive limb-girdle muscular dystrophy type 2B
10 m/s) are frequently associated. Nerve ultrastructural morphology shows severe abnormalities of the nodes of Ranvier and myelinated axons.
Hypomyelination neuropathy-arthrogryposis syndrome
RAB18, member RAS oncogene family
MG1
mucin 5B, oligomeric mucus/gel-forming
HARSR
HO3
histidine tRNA ligase 2, mitochondrial (putative)
histidyl-tRNA synthetase 2, mitochondrial
JBTS12
kinesin family member 7
uroplakin 3A
CILD16
dynein axonemal light chain 1
BIF1
KIAA0441
PATZ2
POZ (BTB) and AT hook containing zinc finger 2
zinc finger and BTB domain containing 24
RALD
RAS-associated autoimmune leukoproliferative disease (RALD) is a rare genetic disorder characterized by monocytosis, autoimmune cytopenias, lymphoproliferation, hepatosplenomegaly, and hypergammaglobulinemia.
RAS-associated autoimmune leukoproliferative disease
Spheroid body myopathy is a rare form of myofibrillar myopathy characterized by predominantly proximal muscle weakness (that could be either non- or slowly progressive), associated with spheroid body inclusions (composed of myofilamentous material within individual muscle fibers) in skeletal muscle biopsy. Presentation is varied and may range from asymptomatic to severe muscle weakness that manifests with absent Achilles reflexes, gait abnormality and/or other motor incapacitations.
Spheroid body myopathy
Orbital medulloepithelioma
Intraocular medulloepithelioma is a rare eye tumor characterized by a white, gray or yellow-colored cystic mass that arises from the primitive neuroectodermal, nonpigmented epithelium of the ciliary body, or occasionally from the optic nerve, optic disc, retina or iris. Typically it has a benign clinical course with good prognosis and generally presents with childhood onset of poor vision and pain, glaucoma, and/or cataract. Leukocoria, exotropia, exophthalmos, strabismus, epiphora, change in eye color, hyphema, and raised intraocular pressure are also remarkable manifestations.
Intraocular medulloepithelioma
Classic BCKD deficiency
Classic MSUD
Classic branched-chain alpha-ketoacid dehydrogenase deficiency
Classic branched-chain ketoaciduria
Classic maple syrup urine disease (classic MSUD) is the most severe and probably common form of MSUD (see this term) characterized by a maple syrup odor in the cerumen at birth, poor feeding, lethargy and focal dystonia, followed by progressive encephalopathy and central respiratory failure if untreated.
Classic maple syrup urine disease
Intermediate BCKD deficiency
Intermediate MSUD
Intermediate branched-chain alpha-ketoacid dehydrogenase deficiency
Intermediate maple syrup urine disease (intermediate MSUD) is a milder form of MSUD (see this term) characterized by persistently raised branched-chain amino acids (BCAAs) and ketoacids, but fewer or no acute episodes of decompensation.
Intermediate maple syrup urine disease
Intermittent BCKD deficiency
Intermittent MSUD
Intermittent branched-chain alpha-ketoacid dehydrogenase deficiency
Intermittent maple syrup urine disease (intermittent MSUD) is a mild form of MSUD (see this term) where patients (when well) are asymptomatic with normal levels of branched-chain amino acids (BCAAs) but with catabolic stress are at risk of acute decompensation with ketoacidosis, which can lead to cerebral edema and coma if untreated.
Intermittent maple syrup urine disease
Thiamine-responsive BCKD deficiency
Thiamine-responsive MSUD
Thiamine-responsive branched-chain alpha-ketoacid dehydrogenase deficiency
Thiamine-responsive maple syrup urine disease (thiamine-responsive MSUD) is a less severe variant of MSUD (see this term) that manifests with a phenotype similar to intermediate MSUD (see this term) but that responds positively to treatment with thiamine.
Thiamine-responsive maple syrup urine disease
MMF embryopathy
Mycophenolate mofetil (MMF) embryopathy is a malformative syndrome due to the teratogenic effect of MMF, an effective immunosuppressive agent widely used for the prevention of organ rejection after organ transplantation.
Mycophenolate mofetil embryopathy
21q22.13-q22.2 microdeletion syndrome
21q22.13q22.2 microdeletion syndrome
Monosomy 21q22.13-q22.2
Monosomy 21q22.13q22.2
DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
Hereditary thrombocytopenia with normal platelets
tet methylcytosine dioxygenase 2
RI-CMT
Autosomal recessive intermediate Charcot-Marie-Tooth disease
CLN14
potassium channel tetramerization domain containing 7
PEN2
presenilin enhancer, gamma-secretase subunit
Neural tube closure defect
Open iniencephaly
Closed iniencephaly
Spina bifida aperta
Total spina bifida aperta
Thoracolumbosacral spina bifida aperta
Lumbosacral spina bifida aperta
Cervical spina bifida aperta
Cervicothoracic spina bifida aperta
Cyclic neutropenia
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_86872 with label: T-cell large granular lymphocyte leukemia
Neutropenia-hyperlymphocytosis with large granular lymphocytes syndrome
Upper thoracic spina bifida aperta
Spina bifida cystica
Total spina bifida cystica
Thoracolumbosacral spina bifida cystica
Lumbosacral spina bifida cystica
Cervical spina bifida cystica
Cervicothoracic spina bifida cystica
Upper thoracic spina bifida cystica
BRCC36
C6.1A
Lys-63-specific deubiquitinase
BRCA1/BRCA2-containing complex subunit 3
Adult idiopathic neutropenia
DFNX4
small muscle protein X-linked
Posterior meningocele is a rare neural tube closure defect characterized by the herniation of a cerebrospinal fluid-filled sac, that is lined by dura and arachnoid mater, through a posterior spina bifida and covered by a layer of skin of variable thickness, which may be dysplastic or ulcerated. The spinal cord and nerves are generally not included and function normally, although sometimes a tethered cord may be associated. They are most commonly located in the lumbar or sacral region.
Posterior meningocele
Myelocystocele
Cephalocele
Cranial meningocele
Occipital encephalocele
Parietal encephalocele
Basal encephalocele
Lipoma associated with neurospinal dysraphism
Lipomyelomeningocele is a rare neural tube closure defect characterized by a subcutaneous lipoma that extends through a defect in the lumbodorsal fascia, vertebral neural arch, and dura. This painless lesion can occur anywhere along the spinal canal but usually is found in the sacral or lumbar region. If left untreated it can cause tethered cord syndrome.
Lipomyelomeningocele
Leptomyelolipoma is a rare neural tube closure defect characterized by an abnormally low lying conus which is tethered by a lumbosacral lipomatous mass (containing fatty tissue, nerve fibers, meningeal strands and fibrous bands) which engulfs the filum terminale and varying numbers of dorsal and ventral nerve root components, typically producing sensory, motor, bowel and/or bladder dysfunction. Cutaneous stigmata, absent or reduced reflexes and foot defomities (e.g. talipes cavovalgus) are frequently present.
Leptomyelolipoma
Malformation of the neurenteric canal, spinal cord and column
Primary tethered spinal cord syndrome
Primary tethered cord syndrome is a genetic, non-syndromic congenital malformation of the neurenteric canal, spinal cord and column characterized by progressive neurologic deterioration (pain, sensorimotor deficits, abnormal gait, decreased tone or abnormal reflexes), musculoskeletal changes (foot deformities and asymmetry, muscle atrophy, limb weakness and numbness, gait disturbances, scoliosis) and/or genitourinary manifestations (bladder and bowel dysfunction). Midline cutaneous stigmata in the lumbosacral region, such as turfs of hair, skin appendages, dimples, subcutaneous lipomas, skin discoloration or hemangiomas, are frequently associated.
Primary tethered cord syndrome
Neurenteric cyst
Isolated amyelia
use http://www.orpha.net/ORDO/Orphanet_99856 with label: Primary syringomyelia
OBSOLETE: Primary syringomyelia/hydromyelia
Arnold-Chiari malformation type 1
Chiari malformation type 1
Chiari malformation type I
Arnold-Chiari malformation type I is a central nervous system malformation characterized by caudal displacement of the cerebellar tonsils exceeding 5mm below the foramen magnum with or without syringomyelia. Symptoms vary in onset and severity and include suboccipital headache, neck pain, vertigo, tinnitus, ocular symptoms (diplopia, blurred vision, photofobia, nystagmus), lower cranial nerve signs, cerebellar ataxia, and spasticity. Some affected individuals can be asymptomatic.
Arnold-Chiari malformation type I
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_2686 with label: Cyclic neutropenia
Isolated macrencephaly
Isolated megalencephaly
Midline brain malformation
Midline cerebral malformation
Isolated arhinencephaly is a rare non-syndromic central nervous system malformation defined by the agenesis of the olfactory bulbs and tracts and characterized by complete congenital anosmia.
Isolated arhinencephaly
Bilateral polymicrogyria is a rare cerebral malformation due to abnormal neuronal migration defined as a cerebral cortex with many excessively small convolutions. It presents with developmental delay, intellectual disability, seizures and various neurological impairments and may be isolated or comprise a clinical feature of many genetic syndromes. It may also be associated with perinatal cytomegalovirus infection.
Bilateral polymicrogyria
Unilateral polymicrogyria is a cerebral cortical malformation characterized by unilateral excessive cortical folding and abnormal cortical layering. It comprises two sub-types depending on the areas affected: unilateral hemispheric and focal polymicrogyria (see these terms).
Unilateral polymicrogyria
Unilateral focal polymicrogyria (BFPP) is the mildest sub-type of polymicrogyria (PMG; see this term), a cerebral cortical malformation characterized by excessive cortical folding and abnormal cortical layering, that affects only one small region of the brain and that may show no neurologic involvement.
Unilateral focal polymicrogyria
Brain cortical dysplasia
Cerebral cortical dysplasia
FCD type I
Isolated focal cortical dysplasia type I
FCD type Ia
Isolated focal cortical dysplasia type Ia
FCD type Ib
Isolated focal cortical dysplasia type Ib
FCD type Ic
Isolated focal cortical dysplasia type Ic
Cortical dysplasia, Taylor type
FCD type II
Isolated focal cortical dysplasia type 2
Isolated focal cortical dysplasia type II
FSH dystrophy
FSHD
Facioscapulohumeral muscular dystrophy
Facioscapulohumeral myopathy
Landouzy-Dejerine myopathy
Facioscapulohumeral muscular dystrophy (FSHD) is characterized by progressive muscle weakness with focal involvement of the facial, shoulder and limb muscles.
Facioscapulohumeral dystrophy
Neutropenia-monocytopenia-deafness syndrome is characterised by neutropenia with myeloid marrow hypoplasia, monocytopenia, and congenital deafness. It has been described in three siblings who suffered recurrent bacterial infections.
Neutropenia-monocytopenia-deafness syndrome
FCD type IIa
Isolated focal cortical dysplasia type IIa
FCD type IIb
Isolated focal cortical dysplasia type IIb
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_1900 with label: Ehlers-Danlos syndrome, kyphoscoliotic type
Encephaloclastic disorder
Central nervous system cystic malformation
Glioependymal/ependymal cyst is a rare central nervous system malformation defined as a subarachnoid, supratentorial, interventricular or intraspinal, sometimes intracerebral or intramedullar cyst with an internal ependymal lining, possibly surrounded by glial tissue. It may be an incidental finding or may present at different ages with clinical features depending on its size and location. It may distort adjacent brain structures and cause macrocephaly, ventriculomegaly, hydrocephalus, focal neurological signs and other signs and symptoms. In some cases, it is associated with other cerebral malformations (e.g. corpus callosum agenesis, polymicrogyria, heterotopias).
Glioependymal/ependymal cyst
Retrocerebellar arachnoid cyst
Retrocerebellar cyst
Isolated cerebellar vermis agenesis
Isolated total cerebellar vermis agenesis
Isolated partial cerebellar vermis agenesis
Isolated Dandy-Walker malformation with hydrocephalus
Isolated Dandy-Walker malformation without hydrocephalus
Isolated unilateral hemispheric cerebellar hypoplasia is a rare, non-syndromic cerebellar malformation characterized by loss of volume in the right or left cerebellar hemisphere, with intact vermis and no other neurological anomalies (i.e. normal cerebral hemispheres, fourth ventricle, pons, medulla and midbrain). Patients may be asymptomatic or may present developmental and speech delay, hypotonia, abnormal ocular movements, persistent headaches and/or peripheral vertigo and ataxia. Neurological examination is otherwise normal.
Isolated unilateral hemispheric cerebellar hypoplasia
Isolated bilateral hemispheric cerebellar hypoplasia is a rare cerebellar malformation characterized by hypoplasia of both cerebellar hemispheres with no other cerebellar/cerebral anomaly or other associated clinical feature. Affected patients present with mild hypotonia with motor delay, mild cognitive impairment, language delay, visuospatial and verbal memory deficits, dysdiadochokinesis, intentional tremor, and possible presence of emotional fragility and mild depression.
Isolated bilateral hemispheric cerebellar hypoplasia
Diffuse cerebellar malformation
Global cerebellar malformation
PTCD
Pontine tegmental cap dysplasia is a rare, central nervous system malformation characterized by specific pattern of congenital anomalies affecting the pons, medulla, and cerebellum. Clinical manifestations of multiple cranial nerves deficits, pyramidal and cerebellar signs include neonatal hypotonia, ataxia, sensorineural deafness, reduced vision, language and speech disorders, feeding and swallowing difficulties, facial paralysis and intellectual disability. Various cardiac, gastrointestinal, genitourinary and skeletal defects have been sometimes reported.
Pontine tegmental cap dysplasia
use http://www.orpha.net/ORDO/Orphanet_2612 with label: Linear nevus sebaceus syndrome
OBSOLETE: Epidermal nevus-vitamin D-resistant rickets syndrome
Bifid nose is a rare congenital malformation of presumed autosomal dominant or recessive inheritance characterized by clefting of the nose ranging from a minimally noticeable groove in the columella to complete clefting of the underlying bones and cartilage (resulting in two half noses) with a usually adequate airway. Bifid nose may be seen in frontonasal dysplasia while other malformations such as hypertelorbitism and midline clefts of the lip may also be associated.
Bifid nose
Congenital non-obstructive hydrocephalus
Congenital communicating hydrocephalus
Congenital obstructive hydrocephalus
Congenital non-communicating hydrocephalus
Syndrome with a cerebellar malformation as major feature
Syndrome with microcephaly as major feature
Other syndrome with a central nervous system malformation as major feature
immunoglobulin heavy variable 3-21
Syndrome with a Dandy-Walker malformation as major feature
Genetic non-syndromic central nervous system malformation
Genetic brain malformation
Genetic cerebral malformation
Genetic posterior fossa malformation
Genetic cerebellar malformation
Genetic syndrome with a CNS malformation as major feature
Genetic syndrome with a central nervous system malformation as major feature
Genetic syndrome with a cerebellar malformation as major feature
Genetic syndrome with a Dandy-Walker malformation as major feature
Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature
KIAA1270
alanine tRNA ligase 2, mitochondrial
alanyl-tRNA synthetase 2, mitochondrial
FAM20A, golgi associated secretory pathway pseudokinase
ARC syndrome
Arthrogryposis-Renal dysfunction-Cholestasis (ARC) syndrome is a multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity.
Arthrogryposis-renal dysfunction-cholestasis syndrome
glycogenin glucosyltransferase
glycogenin 1
GTC90
component of oligomeric golgi complex 5
DPM synthase complex subunit
dolichyl-phosphate mannosyltransferase subunit 3
COD1
component of oligomeric golgi complex 4
Bart-Pumphrey syndrome
Knuckle pads-leukonychia-sensorineural deafness-palmoplantar keratoderma syndrome
Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome
COLEC5
SP-A2
surfactant, pulmonary-associated protein A2A
surfactant protein A2
Median nodule of the upper lip is a minor trait of the lip transmitted in an autosomal dominant fashion.
Median nodule of the upper lip
14-3-3 epsilon
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon
JFP11
TMEM112A
lipase maturation factor 1
Methylmalonyl-CoA mutase deficiency
Methylmalonyl-Coenzyme A mutase deficiency
Vitamin B12-unresponsive methylmalonic aciduria
(see these terms).
Vitamin B12-unresponsive methylmalonic acidemia
OPMD
Oculopharyngeal muscular dystrophy (OPMD) is an adult-onset progressive myopathy characterized by progressive eyelid ptosis, dysphagia, dysarthria and proximal limb weakness.
Oculopharyngeal muscular dystrophy
Cancrum oris
Noma is a gangrenous disease that causes severe destruction of the soft and osseous tissues of the face.
Noma
intraflagellar transport 43
HCAK1
immunoglobulin kappa constant
dual specificity tyrosine phosphorylation regulated kinase 1A
KIAA0092
TSP57
Translokin
centrosomal protein 57
CXXC9
MCMT
DNA methyltransferase 1
HuncM-IC
MYO1C
myosin-IC
myosin IE
glutamate decarboxylase 1
AP-4-EPSILON
SPG51
adaptor related protein complex 4 subunit epsilon 1
AP-4 complex subunit beta-1
BETA-4
beta 4 subunit of AP-4
adaptor related protein complex 4 subunit beta 1
AP47B
CLA20
SPG52
adaptor related protein complex 4 subunit sigma 1
PHOX1
paired related homeobox 1
NS/LAH
Tosti syndrome
Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome (see this term); a distinctive hair anomaly described as loose anagen hair syndrome (see this term); frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis (see this term); and short stature, often associated with a GH deficiency and psychomotor delays.
Noonan syndrome-like disorder with loose anagen hair
DFNB95
GIPC PDZ domain containing family member 3
PFM2
PR/SET domain 5
ZFYVE7
FYVE and coiled-coil domain containing 1
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1
Phospholipase C δ1
phospholipase C delta 1
EPPB9
MKS9
endothelial precursor protein B9
B9 domain containing 1
SWIP
strumpellin and WASH-interacting protein
WASH complex subunit 4
Hydronephrosis-inverted smile syndrome
Inverted smile-neurogenic bladder syndrome
Partial facial palsy with urinary abnormalities
Urofacial syndrome
Ochoa syndrome is characterized by the association of severe voiding dysfunction and a characteristic facial expression.
Ochoa syndrome
GLEPP1
NPHS6
PTP-U2
PTP-oc
PTPU2
osteoclastic transmembrane protein-tyrosine phosphatase
protein tyrosine phosphatase, receptor type O
DFNA64
DIABLO-S
SMAC
second mitochondria-derived activator of caspase
diablo IAP-binding mitochondrial protein
3M3
PPP1R20
protein phosphatase 1, regulatory subunit 20
coiled-coil domain containing 8
CYTSA
KIAA0376
cytokinesis and spindle organization A
sperm antigen with calponin homology and coiled-coil domains 1 like
. An autosomal recessive mode of inheritance seems most likely.
Oculocerebrofacial syndrome, Kaufman type
Gingival hypertrophy-corneal dystrophy
Rutherfurd syndrome
Oculodental syndrome, Rutherfurd type is a rare genetic disorder that is primarily characterized by the classical triad of gingival fibromatosis, non-eruption of tooth and corneal dystrophy (bilateral corneal vascularization and opacity). Abnormally shaped teeth have also been reported. The syndrome is transmitted as an autosomal dominant trait.
Oculodental syndrome, Rutherfurd type
Meyer-Schwickerath syndrome
ODDD syndrome
Oculodentoosseous dysplasia
Oculodentodigital dysplasia (ODDD) is characterized by craniofacial, neurologic, limb and ocular abnormalities.
Oculodentodigital dysplasia
Cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome
OFCD syndrome
Oculo-facio-cardio-dental syndrome (OFCD) is a very rare multiple congenital anomaly syndrome characterized by dental radiculomegaly, congenital cataract, facial dismorphism and congenital heart disease.
Oculofaciocardiodental syndrome
Oculoosteocutaneous syndrome is characterised by congenital anodontia, a small maxilla, short stature with shortened metacarpals and metatarsals, sparse hair, albinoidism and multiple ocular anomalies. It has been described in three siblings (one brother and two sisters). Transmission is autosomal recessive.
Oculoosteocutaneous syndrome
Oculo-palato-cerebral dwarfism
Oculopalatocerebral syndrome is characterised by the association of four anomalies: intellectual deficit, microcephaly, palate anomalies and ocular abnormalities.
Oculo-palato-cerebral syndrome
Hunter-Jurenka-Thompson syndrome
Oculorenocerebellar syndrome
MOTA syndrome
Manitoba oculotrichoanal syndrome
Marles syndrome
Marles-Greenberg-Persaud syndrome
Oculotrichoanal syndrome is a form of rare, multiple congenital anomalies/dysmorphic syndrome characterized by a combination of various nose, eye, gastrointestinal and genitourinary abnormalities. Clinical presentation is variable and often includes bifid and broad nasal tip, aberrant anterior hairline, coloboma, cryptophthalmos or unilateral anophthalmia, anal anomalies, and omphalocele. Intelligence and global development is normal.
Oculotrichoanal syndrome
Cecato de Lima-Pinheiro syndrome
Oculotrichodysplasia is characterised by retinitis pigmentosa, trichodysplasia, dental anomalies, and onychodysplasia. It has been described in two siblings (brother and sister) born to first cousin parents. Transmission appears to be autosomal recessive.
Oculotrichodysplasia
Genetic mesenchymal tumor
Genetic soft tissue tumor
Genetic digestive tract tumor
Genetic cardiac tumor
Genetic urogenital tumor
Genetic neuroendocrine tumor
Genetic cardiac anomaly
Familial TTR-related amyloidosis
Familial transthyretin-related amyloidosis
Hereditary ATTR amyloidosis
Rare genetic systemic or rheumatologic disease
Cross syndrome
Oculocerebral hypopigmentation syndrome, Cross type is a rare congenital syndrome characterized by cutaneous and ocular hypopigmentation, various ocular anomalies (e.g. corneal and lens opacity, spastic ectropium, and/or nystagmus), growth deficiency, intellectual deficit and other progressive neurologic anomalies such as spastic tetraplegia, hyperreflexia, and/or athetoid movements. The clinical picture varies among patients and may also include other anomalies such as urinary tract abnormalities, Dandy-Walker malformations, and/or bilateral inguinal hernia.
Oculocerebral hypopigmentation syndrome, Cross type
FCMD
Fukuyama congenital muscular dystrophy
Fukuyama type muscular dystrophy (FCMD) is a congenital progressive muscular dystrophy characterized by brain malformation (cobblestone lissencephaly), dystrophic changes in skeletal muscle, severe intellectual deficit, epilepsy and motor impairment.
Congenital muscular dystrophy, Fukuyama type
OODD
Odonto-onycho-dermal dysplasia is a form of ectodermal dysplasia characterised by hyperkeratosis and hyperhidrosis of the palms and soles, atrophic malar patches, hypodontia, conical teeth, onychodysplasia, and dry and sparse hair.
Odonto-onycho-dermal dysplasia
Odonto-onycho dysplasia-alopecia syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by almost total alopecia with only sparse, thin, brittle, slow-growing scalp hair, fair and sparse eyebrows and eyelashes, absent axillary and pubic hair, fragile and brittle fingernails, thick and brittle toenails (both with a subungual corneal layer), hypodontia, microdontia, widely spaced teeth with hypoplastic enamel, mild palmoplantar keratosis, café-au-lait spots and areolae anomalies. There have been no further descriptions in the literature since 1985.
Odonto-onycho dysplasia-alopecia syndrome
Freire-Maia syndrome
Odontotrichomelic syndrome is characterised by malformations of all four extremities, hypoplastic nails, ear anomalies, hypotrichosis, abnormal dentition, hyperhidrosis and nasolacrimal duct obstruction. So far, it has been described in less than 10 patients. Transmission is autosomal recessive.
Odontotrichomelic syndrome
Boder syndrome
Odontoma-dysphagia syndrome is a malformation syndrome, characterized by odontomas (undifferentiated mass of the esophagus) and severe dysphagia.
Odontomatosis-aortae esophagus stenosis syndrome
Al Gazali-Al Talabani syndrome
Al Gazali-Lytle syndrome
Eye defects-arachnodactyly-cardiopathy syndrome
BMRS, Ohdo type
Blepharophimosis syndrome, Ohdo type
Ohdo syndrome
Ohdo-Madokoro-Sonoda syndrome
Ohdo blepharophimosis syndrome (OBS) is a multiple congenital malformation syndrome characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability.
Blepharophimosis-intellectual disability syndrome, Ohdo type
Okamoto syndrome is characterised by congenital hydronephrosis, intellectual deficit, growth retardation, cleft palate, generalised hypotonia and a characteristic face. Cardiac anomalies have also been reported. To date, 6 cases have been reported.
Okamoto syndrome
DM1
MD1
Myotonic dystrophy type 1
Steinert disease
Steinert disease, also known as myotonic dystrophy type 1, is a muscle disease characterized by myotonia and by multiorgan damage that combines various degrees of muscle weakness, arrhythmia and/or cardiac conduction disorders, cataract, endocrine damage, sleep disorders and baldness.
Steinert myotonic dystrophy
Postaxial tetramelic oligodactyly is a rare, genetic, congenital limb malformation disorder characterized by isolated, postaxial oligodactyly in all four extremities. Patients present a consistent pattern of malformation ranging from complete absence of the 5th metacarpals, metatarsals and phalanges to complete absence of the 5th metacarpals and metatarsals, with some residual distal 5th phalanges. There have been no further descriptions in the literature since 1993.
Postaxial tetramelic oligodactyly
This syndrome is characterised by congenital absence of the teeth, and sparse or absent hair. Taurodontia is also present in the majority of cases. The syndrome has been described in less than 15 patients from different families.
Taurodontia-absent teeth-sparse hair syndrome
Olivopontocerebellar atrophy-deafness syndrome is characterised by infancy-onset olivopontocerebellar atrophy, sensorineural deafness and speech impairment. It has been described in less than 15 children. Most cases were sporadic, but autosomal recessive inheritance was suggested in three cases.
Olivopontocerebellar atrophy-deafness syndrome
Omodysplasia is a rare skeletal dysplasia characterized by severe limb shortening and facial dysmorphism. Two types of omodysplasia have been described: an autosomal recessive or generalized form (also referred to as micromelic dysplasia with dislocation of radius) marked by severe micromelic dwarfism with predominantly rhizomelic shortening of both the upper and lower limbs, and an autosomal dominant form in which stature is normal and shortening is limited to the upper limbs.
Omodysplasia
Czeizel syndrome
Lethal omphalocele-cleft palate syndrome is characterized by the association of omphalocele and cleft palate. It has been described in three daughters of normal unrelated parents. They were all diagnosed at birth. One had omphalocele, posterior cleft palate, and uterus bicornuatus; she died at 2 months. The second had omphalocele, cleft uvula, and hydrocephalus and died at 4 months; the third had omphalocele and cleft palate and died at 1 year. This syndrome is likely to be inherited as an autosomal recessive condition.
Lethal omphalocele-cleft palate syndrome
, transmitted by the black fly. The infection can either be asymptomatic or manifest as an ocular disease (river blindness) with itchy eyes, erythema, photophobia, onchodermatitis or onchocercal skin disease (classified into acute papular, chronic papular, lichenified, atrophic, and depigmentated) and onchocercomas (over bony prominences). Other classic clinical manifestations are ichthyosis-like lesions (''lizard skin'') and ''hanging groin'', which may be associated with lymphadenopathy.
Onchocerciasis
Onycho-tricho-dysplasia-neutropenia syndrome
LZ16
T13
ankyrin repeat domain 11
Giant platelet syndrome
Hemorrhagiparous thrombocytic dystrophy
Bernard Soulier syndrome (BSS) is an inherited platelet disorder characterized by mild to severe bleeding tendency , macrothrombocytopenia and absent ristocetin-induced platelet agglutination.
Bernard-Soulier syndrome
DCR
KIDCR
SDR20C1
short chain dehydrogenase/reductase family 20C, member 1
dicarbonyl and L-xylulose reductase
OMM syndrome
Pillay syndrome
Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms.
Ophthalmomandibulomelic dysplasia
use http://www.orpha.net/ORDO/Orphanet_329336 with label: Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
OBSOLETE: Ophthalmoplegia-myalgia-tubular aggregates syndrome
NFE1B
GATA binding protein 2
JBTS13
TECT1
tectonic family member 1
RP62
male germ cell associated kinase
Levic-Stefanovic-Nikolic syndrome
Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by congenital, external, nuclear ophthalmoplegia, lingua scrotalis, progressive chorioretinal sclerosis and intellectual disability. Bilateral ptosis, bilateral facial weakness, Parinaud's syndrome, convergence paresis and myopia may be associated. There have been no further descriptions in the literature since 1975.
Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome
HGPPS
Progressive external ophthalmoplegia and scoliosis
Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare congenital autosomal recessive disease, presenting in children and adolescents, and characterized by progressive scoliosis along with the absence of conjugate horizontal eye movements and associated with failure of the somatosensory and corticospinal neuronal tracts to decussate in the medulla.
Horizontal gaze palsy with progressive scoliosis
Hypertelorism-oesophageal abnormality-hypospadias syndrome
Hypospadias-dysphagia syndrome
Hypospadias-hypertelorism syndrome
Opitz syndrome
Opitz-Frias syndrome
Opitz G/BBB syndrome (OS) is a multiple congenital anomalies disorder characterized by malformations of the midline including hypertelorism, laryngo-tracheo-esophalgeal defects and hypospadias. There are two clinically indistinguishable genetic subtypes of Opitz G/BBB: X-linked Opitz G/BBB syndrome (XLOS), and autosomal dominant Opitz G/BBB syndrome (ADOS) (see these terms).
Opitz G/BBB syndrome
Opsismodysplasia is a skeletal dysplasia characterized by congenital dwarfism and facial dysmorphism.
Opsismodysplasia
Oroacral syndrome
Oromandibular-limb hypogenesis syndromes (OLHS) are a group of dysmorphic complexes (including Charlie M syndrome, Hanhart syndrome and glossopalatine ankylosis; see these terms) characterized by the association of severe asymmetric limb defects (primarily involving distal segments) and abnormalities of the oral cavity and mandible (hypoglossia, aglossia, micrognathia, glossopalatine ankylosis, cleft palate, and gingival anomalies).
Oromandibular-limb hypogenesis syndrome
SCID due to ARTEMIS deficiency
SCID due to DCLRE1C deficiency
SCID, Athabascan type
SCID, Athabaskan type
Severe combined immunodeficiency due to ARTEMIS deficiency
Severe combined immunodeficiency, Athabascan type
Severe combined immunodeficiency, Athabaskan type
Severe combined immunodeficiency (SCID) due to DCLRE1C deficiency is a type of SCID (see this term) characterized by severe and recurrent infections, diarrhea, failure to thrive, and cell sensitivity to ionizing radiation.
Severe combined immunodeficiency due to DCLRE1C deficiency
OFD1
OFDI
OFDSI
Oral-facial-digital syndrome type 1
Papillon-Léage-Psaume syndrome
Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females.
Orofaciodigital syndrome type 1
Mohr syndrome
OFD2
Oral-facial-digital syndrome type 2
Oral-facial-digital (OFD) type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip and tongue hamartomas.
Orofaciodigital syndrome type 2
OFD3
Oral-facial-digital syndrome type 3
Sugarman syndrome
Oral-facial-digital syndrome, type 3 is characterized by anomalies of the mouth, eyes and digits, associated with severe intellectual deficit.
Orofaciodigital syndrome type 3
Baraitser-Burn syndrome
Mohr-Majewski syndrome
OFD4
Oral-facial-digital syndrome type 4
Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet.
Orofaciodigital syndrome type 4
Joubert syndrome with oral-facial-digital syndrome
Joubert syndrome with orofaciodigital defect
OFD6
Oral-facial-digital syndrome type 6
Polydactyly-cleft lip/palate-psychomotor retardation syndrome
Váradi syndrome
Váradi-Papp syndrome
Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly.
Orofaciodigital syndrome type 6
OFD8
Oral-facial-digital syndrome type 8
Oral-facial-digital syndrome, Edwards type
Orofaciodigital syndrome, Edwards type
Oral-facial-digital syndrome, type 8 is characterized by tongue lobulation, hypoplasia of the epiglottis, median cleft upper lip, broad or bifid nasal tip, hypertelorism or telecanthus, bilateral preaxial and postaxial polydactyly, abnormal tibiae and/or radii, duplication of the halluces, short stature, and mild intellectual deficit.
Orofaciodigital syndrome type 8
ALPS with recurrent viral infections
CEDS
Caspase 8 deficiency syndrome
Autoimmune lymphoproliferative syndrome (ALPS) with recurrent viral infections is a rare genetic disorder characterized by lymphadenopathy and/or splenomegaly and recurrent infections due to herpes viruses.
Autoimmune lymphoproliferative syndrome with recurrent viral infections
DALD
Dianzani autoimmune lymphoproliferative disease (DALD) is a very rare disorder characterized by autoimmunity, lymphadenopathy and/or splenomegaly.
Dianzani autoimmune lymphoproliferative disease
Myostatin-related muscle hypertrophy
CRASH syndrome
Corpus callosum hypoplasia-retardation-adducted thumbs-spasticity-hydrocephalus syndrome
L1CAM syndrome
L1 syndrome is a mild to severe congenital X-linked developmental disorder characterized by hydrocephalus of varying degrees of severity, intellectual deficit, spasticity of the legs, and adducted thumbs. The syndrome represents a spectrum of disorders including: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS), MASA syndrome, X-linked complicated hereditary spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis (see these terms).
L1 syndrome
Preeclampsia is a hypertensive disorder of pregnancy that is characterized by new-onset hypertension with proteinuria presenting after 20 weeks of gestation, and depending on mild or severe forms may initially present with severe headache, visual disturbances, and hyperreflexia.
Preeclampsia
Figuera syndrome
OFD10
Oral-facial-digital syndrome type 10
Orofaciodigital syndrome with fibular aplasia
Oral-facial-digital syndrome, type 10 is characterized by facial (telecanthus, flat nasal bridge, retrognathia), oral (cleft palate, vestibular frenula) and digital (oligodactyly, preaxial polydactyly) features, associated with remarkable radial shortening, fibular agenesis and coalescence of tarsal bones. The syndrome has been described in one 10-month-old girl. No new cases have been described since 1993.
Orofaciodigital syndrome type 10
Rare bleeding disorder due to a constitutional thrombocytopenia
Rare bleeding disorder due to a quantitative platelet defect
Rare coagulopathy due to a constitutional thrombocytopenia
Rare coagulopathy due to a quantitative platelet defect
Rare hemorrhagic disorder due to a quantitative platelet defect
Rare hemorrhagic disorder due to a constitutional thrombocytopenia
Rare bleeding disorder due to a constitutional thrombopathy
Rare bleeding disorder due to a qualitative platelet defect
Rare coagulopathy due to a constitutional thrombopathy
Rare coagulopathy due to a qualitative platelet defect
Rare hemorrhagic disorder due to a constitutional thrombopathy
Rare hemorrhagic disorder due to a qualitative platelet defect
Genetic infertility
Alpha-thalassemia and related diseases
Beta-thalassemia and related diseases
Sickle cell disease and related diseases
LAL deficiency
Lysosomal acid lipase deficiency is a lipid storage disease that can result in 1) an early-onset severe form, Wolman disease (see this term), or 2) a less severe form, cholesteryl ester storage disease (see this term), of cholesteryl ester accumulation in the body (liver, spleen, macrophages). Wolman disease is characterized by neonatal abdominal distension, major or even massive hepatosplenomegaly and calcified adrenal glands, cholesteryl ester storage disease presents with microvesicular steatosis leading to hepatomegaly and hypercholesterolaemia with subsequent liver failure and accelerated atherosclerosis.
Lysosomal acid lipase deficiency
IPAH
Primary pulmonary arterial hypertension
Idiopathic pulmonary arterial hypertension (IPAH) is a sporadic form of pulmonary arterial hypertension (PAH, see this term) characterized by elevated pulmonary arterial resistance leading to right heart failure. IPAH is progressive and potentially fatal and not associated with an underlying condition or family history of PAH.
Idiopathic pulmonary arterial hypertension
FPAH
Familial pulmonary arterial hypertension
HPAH
Hereditary pulmonary arterial hypertension
Heritable pulmonary arterial hypertension (HPAH) is a form of pulmonary arterial hypertension (PAH, see this term), occurring due to mutations in PAH predisposing genes or in a familial context. HPAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. HPAH is progressive and potentially fatal.
Heritable pulmonary arterial hypertension
Drug- or toxin-induced PAH
Drug- or toxin-induced pulmonary arterial hypertension (PAH) is a form of pulmonary arterial hypertension (PAH, see this term) secondary to the exposition to drugs. Drug- or toxin-induced PAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. Drug or toxin induced PAH is progressive and potentially fatal.
Drug- or toxin-induced pulmonary arterial hypertension
PAH associated with another disease
Secondary PAH
Pulmonary arterial hypertension associated with another disease is a group of conditions that lead to PAH (see this term); connective tissue diseases (lupus erythematosus, systemic sclerosis and mixed connective tissues disease), congenital heart disease (Eisenmenger syndrome), HIV infection, portal hypertension, schistosomiasis and chronic hemolytic anemia (see these terms),which is characterized by elevated pulmonary arterial resistance leading to right heart failure that is progressive and potentially fatal.
Pulmonary arterial hypertension associated with another disease
PAH associated with connective tissue disease
Pulmonary arterial hypertension (PAH, see this term) associated with connective tissue disease (PAH-CTD) is a form of pulmonary arterial hypertension (PAH, see this term) characterized by an elevated pulmonary arterial resistance leading to right heart failure observed as a complication of a connective tissue disease.
Pulmonary arterial hypertension associated with connective tissue disease
PAH associated with congenital heart disease
Pulmonary arterial hypertension associated with congenital heart disease (PAH-CHD) is a form of pulmonary arterial hypertension (PAH, see this term), characterized by elevated pulmonary arterial resistance leading to right heart failure occurring as a common complication of congenital heart malformations (see this term) with left to right cardiac shunts. Eisenmenger syndrome (see this term) is the most advanced form of PAH-CHD and is defined as the complete or partial reversal of an initial left-to-right shunt to a right-to-left shunt, causing cyanosis and limited exercise capacity. PAH-CHD also includes mild to moderate systemic-to-pulmonary shunts with no cyanosis at rest, patients with small defects, and those with residual PAH following corrective cardiac surgery.
Pulmonary arterial hypertension associated with congenital heart disease
PAH associated with HIV infaction
Pulmonary arterial hypertension (PAH, see this entry) associated with HIV infection (PAH-HIV) is a form of PAH characterized by elevated pulmonary arterial resistance leading to right heart failure observed as a complication of HIV infection.
Pulmonary arterial hypertension associated with HIV infection
PAH associated with portal hypertension
POPH
Portopulmonary hypertension
Pulmonary arterial hypertension associated with portal hypertension (PAH-PH) is a form of pulmonary arterial hypertension (PAH), characterized by an elevated pulmonary arterial resistance leading to right heart failure observed as a complication of portal hypertension.
Pulmonary arterial hypertension associated with portal hypertension
PAH associated with schistosomiasis
Pulmonary arterial hypertension associated with schistosomiasis (PAHS) is a form of pulmonary arterial hypertension (see this term) characterized by an elevated pulmonary arterial resistance leading to right heart failure, observed as a complication of a chronic schistosomiasis (see this term).
Pulmonary arterial hypertension associated with schistosomiasis
PAH associated with chronic hemolytic anemia
Pulmonary arterial hypertension associated with chronic hemolytic anemia (PAH-CHA) is a form of PAH (see this term) characterized by an elevated pulmonary arterial resistance leading to right heart failure observed as a complication of chronic hemolytic anemia.
Pulmonary arterial hypertension associated with chronic hemolytic anemia
PH due to lung disease and/or hypoxia
PH owing to lung disease and/or hypoxia
Pulmonary hypertension due to lung disease and/or hypoxia
Pulmonary hypertension owing to lung disease and/or hypoxia
PH with unclear multifactorial mechanism
Pulmonary hypertension with unclear multifactorial mechanism
Syndrome with pulmonary hypertension as a major feature
bv-FTD
Behavioral variant of frontotemporal dementia (bv-FTD) is a form of frontotemporal dementia (FTD; see this term), characterized by progressive behavioral impairment and a decline in executive function with frontal lobe-predominant atrophy.
Behavioral variant of frontotemporal dementia
FTD-ALS
FTD-MND
Frontotemporal dementia with amyotrophic lateral sclerosis
Frontotemporal dementia with motor neuron disease (FTD-MND) is a type of frontotemporal lobar degeneration characterized by the insidious onset (between the ages of 38-78 years) of dementia-associated psychiatric symptoms (e.g. personality changes, uninhibited behavior, irritability, aggressiveness), memory difficulties, global intellectual impairment, emotional disorders and transcortical motor aphasia that eventually leads to mutism, in addition to the manifestations of motor neuron disease such as neurogenic muscular wasting (similar to what is seen in amyotrophic lateral sclerosis; see this term). The disease is progressive, with death occurring 2-5 years after onset.
Frontotemporal dementia with motor neuron disease
Seghers syndrome
Imperforate oropharynx-costovertebral anomalies syndrome is a dysostosis with predominant vertebral and costal involvement characterized by oropharyngeal atresia, mild mandibulofacial dysostosis, auricular malformations, and costovertebral anomalies (hemivertebrae, block vertebra, partial fusion of the ribs, absent ribs). There have been no further descriptions in the literature since 1989.
Imperforate oropharynx-costovertebral anomalies syndrome
HDFN
Hemolytic disease of the fetus and newborn
Hemolytic disease due to fetomaternal alloimmunization
Anti-K HDN
Maternal anti-Kell alloimmunization
Hemolytic disease of the newborn with Kell alloimmunization
SCIDX1
T-B+ SCID due to gamma chain deficiency
T-B+ severe combined immunodeficiency, X-linked
Severe combined immunodeficiency (SCID) due to gamma chain deficiency, also called SCID-X1, is a form of SCID (see this term) characterized by severe and recurrent infections, associated with diarrhea and failure to thrive.
T-B+ severe combined immunodeficiency due to gamma chain deficiency
Osteosarcoma-limb anomalies-erythroid macrocytosis syndrome
OSLAM syndrome is characterised by the association of osteosarcoma, limb anomalies (clinodactyly with brachymesophalangy, bilateral radioulnar synostosis and absence of one digital ray of the foot) and red cell macrocytosis without anaemia.
OSLAM syndrome
Genetic neurodegenerative disease with dementia
Genetic frontotemporal degeneration with dementia
Bile acid CoA ligase deficiency and defective amidation is an anomaly of bile acid synthesis (see this term) characterized by fat malabsorption, neonatal cholestasis and growth failure.
Bile acid CoA ligase deficiency and defective amidation
Rare tumor of salivary glands
Malignant epithelial tumor of salivary glands is a rare neoplastic disease characterized by the presence of a tumor located in the parotid, sublingual, submandibular and/or minor salivary glands, which presents with a wide spectrum of clinical features depending on the location, size and type of salivary gland involved, ranging from clinically asymptomatic, slow-growing, painless mass(es), that may or may not be fixed to underlying skin or muscles, to rapidly growing mass(es) associated with pain, facial weakness/nerve palsy, otorrhoea, dysphagia, palatal/parapharyngeal fullness, nasal obstruction/bleeding, voice hoarseness/change, dyspnea, trismus, palate bone erosion, telangiectasia, mucosal/skin ulceration and/or cervical adenopathy.
Malignant epithelial tumor of salivary glands
Benign epithelial tumor of salivary glands is a rare neoplastic disease characterized by the presence of a tumor located in the parotid, sublingual, submandibular and/or minor salivary glands, which presents with a wide spectrum of clinical features depending on the location, size and type of salivary gland involved, usually manifesting as a slow-growing, painless, commonly solitary mass, rarely associated with facial nerve palsy or nasal/airway obstruction.
Benign epithelial tumor of salivary glands
MEN4
Multiple endocrine neoplasia type 4 (MEN4) is a very rare form of MEN (see this term), an inherited cancer syndrome, characterized by parathyroid and anterior pituitary tumors, possibly associated with adrenal, renal, and reproductive organ tumors.
Multiple endocrine neoplasia type 4
MEN
Multiple endocrine neoplasia (MEN) is a group of rare inherited cancer syndromes characterized by the development of two or more endocrine gland tumors, sometimes with tumor development in other tissues or organs.
Multiple endocrine neoplasia
Idiopathic recurrent stupor is a rare neurologic disease characterized by unpredictable, transient and spontaneous unresponsiveness lasting from hours to days, with a frequency of three to seven attacks per year, in the absence of readily discernible toxic, metabolic or structural causes.
Idiopathic recurrent stupor
Cerebellar ataxia with azoospermia and intellectual disability
SCA32
Spinocerebellar ataxia type 32 (SCA32) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by ataxia, cognitive impairment and azoospermia in males.
Spinocerebellar ataxia type 32
SCA35
Spinocerebellar ataxia type 35 (SCA35) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by the adult-onset of progressive gait and limb ataxia, dysarthria, ocular dysmetria, intention tremor, hyperreflexia and spasmodic torticollis.
Spinocerebellar ataxia type 35
Asidan
SCA36
Spinocerebellar ataxia type 36 (SCA36) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by gait and limb ataxia, lower limb spasticity, dysarthria, muscle fasiculations, tongue atrophy and hyperreflexia.
Spinocerebellar ataxia type 36
Familial ectopic ossification
POH
gene (20q13.2-q13.3), coding for guanine nucleotide-binding proteins. POH can, however, be distinguished clinically by the deep and progressive nature of the heterotopic bone formation.
Progressive osseous heteroplasia
Arylsulfatase B deficiency, rapidly progressing
MPS6, rapidly progressing
MPSVI, rapidly progressing
Mucopolysaccharidosis type VI, rapidly progressing
Mucopolysaccharidosis type 6, rapidly progressing
Arylsulfatase B deficiency, slowly progressing
MPS6, slowly progressing
MPSVI, slowly progressing
Mucopolysaccharidosis type VI, slowly progressing
Mucopolysaccharidosis type 6, slowly progressing
Non-syndromic male infertility due asthenozoospermia
Non-syndromic male infertility due to sperm motility disorder is a rare, genetic, non-syndromic male infertility disorder characterized by infertility due to sperm with defects in their cilia/flagella structure, leading to absent motility or reduced forward motility in fresh ejaculate. Reduced semen volume, oligospermia and an increased number of abnormally structured spermatozoa is often present.
Non-syndromic male infertility due to sperm motility disorder
SCA3, Joseph type
Spinocerebellar ataxia type 3, Joseph type
Machado-Joseph disease type 1 is a rare, usually severe subtype of Machado-Joseph disease (SCA3/MJD, see this term) characterized by the presence of marked pyramidal and extrapyramidal signs.
Machado-Joseph disease type 1
SCA3, Thomas type
Spinocerebellar ataxia, Thomas type
Machado-Joseph disease type 2 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) with intermediate severity characterized by an intermediate age of onset, cerebellar ataxia and external progressive ophthalmoplegia, with variable pyramidal and extrapyramidal signs.
Machado-Joseph disease type 2
SCA3, Machado type
Spinocerebellar ataxia type 3, Machado type
Machado-Joseph disease type 3 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) of milder severity characterized by late onset, slower progression, and peripheral amyotrophy.
Machado-Joseph disease type 3
use http://www.orpha.net/ORDO/Orphanet_910 with label: Xeroderma pigmentosum
OBSOLETE: Xeroderma pigmentosum complementation group A
OBSOLETE: Xeroderma pigmentosum complementation group B
OBSOLETE: Xeroderma pigmentosum complementation group C
OBSOLETE: Xeroderma pigmentosum complementation group D
OBSOLETE: Xeroderma pigmentosum complementation group E
OBSOLETE: Xeroderma pigmentosum complementation group F
use http://www.orpha.net/ORDO/Orphanet_220295 with label: Xeroderma pigmentosum-Cockayne syndrome complex
OBSOLETE: Xeroderma pigmentosum complementation group G
HHML
Hemihyperplasia-multiple lipomatosis syndrome is a rare, genetic overgrowth syndrome characterized by non- progressive, asymmetrical, moderate hemihyperplasia (frequently affecting the limbs) associated with slow growing, painless, multiple, recurrent, subcutaneous lipomatous masses distributed throughout entire body (in particular back, torso, extremities, fingers, axillae). Superficial vascular malformations may also be associated. Increased risk of intra-abdominal embryonal malignancies may be associated.
Hemihyperplasia-multiple lipomatosis syndrome
Gracile bone dysplasia
Osteocraniosplenic syndrome
Osteocraniostenosis is a lethal skeletal dysplasia characterized by a cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization.
Osteocraniostenosis
FMNG
Familial MNG
Familial multinodular goiter
König disease
Osteochondritis dissecans (OCD) is a rare bone disease characterized by an acquired idiopathic necrotic lesion of subchondral bone with the formation of a sequestrum, which may detach to form loose bodies in joints. OCD mainly affects the knee, ankle and elbow joints and can lead to pain, functional limitations and secondary osteoarthritis.
Osteochondritis dissecans
Limbic encephalitis with caspr2 antibodies is a rare neuroimmunological disorder characterized by the onset of cognitive deficits, psychiatric disturbances (e.g. personality changes), seizures, peripheral nerve hyperexcitability, dysautonomia, neuropathic pain, insomnia and weight loss, in association with detection of caspr2 antibodies in serum or cerebrospinal fluid, with or without underlying malignancies. Other features reported include blepharoclonus, myoclonic status epilepticus, and dyskinesia.
Limbic encephalitis with caspr2 antibodies
Green jaundice
Hyperbiliverdinemia is a rare, genetic hepatic disease characterized by the presence of green coloration of the skin, urine, plasma and other body fluids (ascites, breastmilk) or parts (sclerae) due to increased serum levels of biliverdin in association with biliary obstruction and/or liver failure. Association with malnutrition, medication, and congenital biliary atresia has also been reported.
Hyperbiliverdinemia
Deletion 10q22.3q23.3
Monosomy 10q22.3q23.3
10q22.3q23.3 microdeletion syndrome is a rare partial autosomal monosomy characterized by a mild facial dysmorphism variably including macrocephaly, broad forehead, hypertelorism or hypotelorism, deep-set eyes, upslanting or downslanting palpebral fissures, low-set ears, flat nasal bridge, smooth philtrum, thin upper lip), cleft palate, cerebellar and cardiac malformations, psychomotor development delay, and behavioral abnormalities (attention deficit hyperactivity disorder, autism). Other rare features may include congenital breast aplasia, arachnodactyly, joint hyperlaxity, club feet, feeding difficulties, failure to thrive.
10q22.3q23.3 microdeletion syndrome
Trisomy 10q22.3q23.3
10q22.3q23.3 microduplication syndrome is a rare, chromosomal anomaly characterized by variable clinical features that may include developmental delay, mild intellectual disability and dysmorphic facial features. In some cases, microcephaly, growth retardation and congenital heart defects have been reported.
10q22.3q23.3 microduplication syndrome
Hypnic headache
Premature aging appearance-developmental delay-cardiac arrhythmia syndrome
Ogden syndrome is a rare, genetic progeroid syndrome characterized by a variable phenotype including postnatal growth delay, severe global developmental delay, hypotonia, non-specific dysmorphic facies with aged appearance and cryptorchidism, as well as cardiac arrthymias and skeletal anomalies. Patients typically present with widely opened fontanels, mainly truncal hypotonia, a waddling gait with hypertonia of the extremities, small hands and feet, broad great toes, scoliosis and redundant skin with lack of subcutaneous fat.
Ogden syndrome
Lower motor neuron syndrome with late-adult onset
use http://www.orpha.net/ORDO/Orphanet_1517 with label: Hypertrichotic osteochondrodysplasia, Cantu type
OBSOLETE: Hypertrichotic osteochondrodysplasia
Familial hyperinsulinemic hypoglycemia
Familial hyperinsulinism
Hyperinsulinemic hypoglycemia due to UCP2 deficiency
HyHyperinsulism due to UCP2 deficiency (HIUCP2) is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI, see this term) characterized by hypoglycemic episodes from the neonatal period, a good clinical response to diazoxide and a probable transient nature of the disease with spontaneous resolution.
Hyperinsulinism due to UCP2 deficiency
Autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency
Autosomal dominant hyperinsulinism due to SUR1 deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by hypoglycemic epiosodes that are usually mild, escaping detection during infancy and usually a good clinical response to diazoxide. Autosomal dominant hyperinsulinism due to SUR1 deficiency usually has a milder phenotype when compared to that resulting from recessive K-ATP mutations (recessive forms of Diazoxide-resistant hyperinsulinism, see this term).
Autosomal dominant hyperinsulinism due to SUR1 deficiency
Autosomal dominant hyperinsulinemic hypoglycemia due to Kir6.2 deficiency
Dominant KATP hyperinsulinism due to Kir6.2 deficiency
Autosomal dominant hyperinsulinism due to Kir6.2 deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by hypoglycemic epiosodes that are usually mild, escaping detection during infancy, and usually a good clinical response to diazoxide, (but some are diazoxide resistant). Autosomal dominant hyperinsulinism due to Kir6.2 deficiency usually has a milder phenotype when compared to that resulting from recessive K+ (K-ATP) channel mutations (Recessive forms of diazoxide-resistant hyperinsulinism, see this term).
Autosomal dominant hyperinsulinism due to Kir6.2 deficiency
Diazoxide-resistant hyperinsulinemic hypoglycemia
Diazoxide-resistant hyperinsulism (DRH) is form of congenital isolated hyperinsulism (see this term) caused by an abnormal insulin production by b-cells in the pancreas that can be diffuse or focal and is characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), recurrent episodes of profound hypoglycemia and resistance to medical management with diazoxide.
Diazoxide-resistant hyperinsulinism
Hyperinsulinemic hypoglycemia due to SUR1 deficiency, diazoxide-resistant focal form
Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency is a rare congenital isolated hyperinsulinism characterized by diazoxide unresponsive recurrent episodes of hyperinsulinemic hypoglycemia due to an excessive insulin secretion by the pancreatic bêta-cells. Hypoglycemia may lead to variable clinical manifestation, ranging from asymptomatic hypoglycemia revealed by routine blood glucose monitoring to macrosomia at birth, mild to moderate hepatomegaly and life-threatening hypoglycemic coma or status epilepticus, further leading to poor neurological outcome. The disease is associated with homozygosity of a paternally inherited mutation of ABCC8 (encoding the sulfonylurea receptor (SUR1) subunit of the pancreatic ATP-sensitive potassium channel) in the hyperplastic pancreatic islets, most commonly a result of a heterozygous paternally inherited mutation and a somatic event, leading to the loss of the maternal allele.
Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency
Hyperinsulinemic hypoglycemia due to Kir6.2 deficiency, diazoxide-resistant focal form
Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency
NI-PHH
Adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia
Sporadic pheochromocytoma/secreting paraganglioma are isolated, non-familial, catecholamin-producing tumors arising from neuroendocrine chromaffin cells in the adrenal medulla or in extra-adrenal chromaffin tissue, respectively. The majority of these tumors are benign and the presenting symptoms are typically caused by the increased catecholamine production of the tumor, including hypertension (often paroxysmal), tachycardia, anxiety and/or excessive sweating.
Sporadic pheochromocytoma/secreting paraganglioma
Sporadic pheochromocytoma
Sporadic secreting paraganglioma
Symptomatic form of Coffin-Lowry syndrome in female carriers
Maroteaux-Le Merrer-Bensahel syndrome
Carpotarsal osteochondromatosis is a very rare primary bone dysplasia disorder characterized by abnormal bone proliferation and osteochondromas in the upper and lower limbs.
Carpotarsal osteochondromatosis
Infantile tibia vara
Osteochondrosis deformans tibiae
Tibia vara Blount
Blount disease is characterized by disturbed growth of the inner portion of the upper tibial extremity, progressively leading to bowlegged deformity with bone angulation just below the knee (tibia varus). In 60% of cases, the condition affects both legs.
Blount disease
Familial osteodysplasia, Anderson type is a rare, genetic dysostosis disorder characterized by craniofacial bone abnormalities (i.e. midface hypoplasia, broad, flat nasal bridge, narrow, thin prognathic mandible with pointed chin, malocclusion, partial dental agenesis) associated with additional osseous anomalies, including scoliosis, calvarial thinning, pointed spinous processes, clinodactyly and abnormal phalanges. Elevated erythrocyte sedimentation rate, hyperuricemia and hypertension have also been reported. There have been no further descriptions in the literature since 1982.
Familial osteodysplasia, Anderson type
ADA deficiency
SCID due to adenosine deaminase deficiency
Severe combined immunodeficiency (SCID) due to adenosine deaminase (ADA) deficiency is a form of SCID characterized by profound lymphopenia and very low immunoglobulin levels of all isotypes resulting in severe and recurrent opportunistic infections.
Severe combined immunodeficiency due to adenosine deaminase deficiency
NHD
PLOSL
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
Nasu-Hakola disease (NHD), also referred to as polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), is a rare inherited leukodystrophy characterized by progressive presenile dementia associated with recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities.
Nasu-Hakola disease
Osteogenesis imperfecta-congenital joint contractures syndrome
Bruck syndrome is characterised by the association of osteogenesis imperfecta and congenital joint contractures.
Bruck syndrome
or a few hours after birth. The mode of inheritance appears to be autosomal recessive.
Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome
Al Gazali-Nair syndrome
Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome is characterized by osteogenesis imperfecta, wormian bones, optic atrophy, retinopathy, seizures and severe developmental delay. It has been described in two sibs born to consanguineous parents.
Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome
Idiopathic multicentric osteolysis with or without nephropathy
Idiopathic multicentric osteolysis is a very rare syndrome characterized by progressive loss of bone, usually the capsal and tarsal bones, resulting in deformity and disability, as well as chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities.
Multicentric carpo-tarsal osteolysis with or without nephropathy
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_3460 with label: Torg-Winchester syndrome
Autosomal recessive carpotarsal osteolysis
Distal osteolysis-short stature-intellectual disability syndrome
Petit-Fryns syndrome
Autosomal recessive distal osteolysis syndrome is an early-onset distal osteolysis characterised by severe resorption of the hands and feet and absence of the distal and middle phalanges. It has been described in a son and daughter born to consanguineous parents. Other manifestations include distal muscular hypertrophy, flexion contractures, short stature, mild intellectual deficit and characteristic facies (maxillary hypoplasia, exophthalmos, and a broad nasal tip). It is transmitted as an autosomal recessive trait.
Autosomal recessive distal osteolysis syndrome
Axial osteosclerosis
Osteomesopyknosis is a very rare benign bone disorder characterized by bone dysplasia manifested by patchy sclerosis of the axial skeleton and increased bone mineral content.
Osteomesopyknosis
use http://www.orpha.net/ORDO/Orphanet_324964 with label: Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis
OBSOLETE: Juvenile chronic recurrent multifocal osteomyelitis
Whyte-Murphy syndrome
Osteopathia striata-pigmentary dermopathy-white forelock syndrome is characterised by the association of osteopathia striata (longitudinal striations through most of the long bones) with a macular, hyperpigmented dermopathy and a white forelock.
Osteopathia striata-pigmentary dermopathy-white forelock syndrome
use http://www.orpha.net/ORDO/Orphanet_454887 with label: Corticobasal syndrome
Hyperostosis generalisata with striations
Robinow-Unger syndrome
Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss.
Osteopathia striata-cranial sclerosis syndrome
Osteopetrosis, also known as marble bone disease, is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs.
Osteopetrosis and related disorders
Autosomal dominant osteopetrosis type I (ADO I) is a sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault.
Autosomal dominant osteopetrosis type 1
Carbonic anhydrase 2 deficiency
Guibaud-Vainsel syndrome
Marble brain disease
Mixed RTA
Mixed renal tubular acidosis
Renal tubular acidosis type 3
Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis (see this term), renal tubular acidosis (RTA), and neurological disorders related to cerebral calcifications.
Osteopetrosis with renal tubular acidosis
Hernández-Fragoso syndrome
OOCHS
Osteoporosis-oculocutaneous hypopigmentation syndrome is characterised by osteoporosis and congenital oculocutaneous hypopigmentation. Three cases have been described in the literature. The mode of inheritance appears to be autosomal recessive.
Osteoporosis-oculocutaneous hypopigmentation syndrome
Heide syndrome
Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome is characterised by osteoporosis, macrocephalus, brachytelephalangy, and hyperextensibility of the joints. Congenital amaurosis and intellectual deficit have also been reported. This syndrome has been described in three members of one family.
Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome
OPPG
Ocular form of osteogenesis imperfecta
Osteoporosis pseudoglioma syndrome is a very rare autosomal recessive disorder characterized by congenital or infancy-onset blindness and severe juvenile-onset osteoporosis and spontaneous fractures.
Osteoporosis-pseudoglioma syndrome
Lehman syndrome
Lateral meningocele syndrome
Autosomal dominant osteosclerosis, Worth type
Ostéosclérose autosomique dominante type Worth
Worth syndrome
Worth type autosomal dominant osteosclerosis is a sclerozing bone disorder characterized by generalized skeletal densification, particularly of the cranial vault and tubular long bones, which is not associated to an increased risk of fracture.
Endosteal hyperostosis, Worth type
Globodontia
Otodental dysplasia
Otodental syndrome is a very rare inherited condition characterized by grossly enlarged canine and molar teeth (globodontia) associated with sensorineural hearing loss.
Otodental syndrome
Fara-Chlupackova syndrome
OFC syndrome
Otofaciocervical syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by distinct facial features (long triangular face, broad forehead, narrow nose and mandible, high arched palate), prominent, dysmorphic ears (low-set and cup-shaped with large conchae and hypoplastic tragus, antitragus and lobe), long neck, preauricular and/or branchial fistulas and/or cysts, hypoplastic cervical muscles with sloping shoulders and clavicles, winged, low, and laterally-set scapulae, hearing impairment and mild intellectual deficit. Vertebral defects and short stature may also be associated.
Otofaciocervical syndrome
Otoonychoperoneal syndrome
Fowler-Christmas-Chapple syndrome
Polycystic ovaries-urethral sphincter dysfunction syndrome is characterised by urinary retention and incomplete emptying of the bladder associated with abnormal electromyographic activity. It has been described in 33 women, 14 of whom also had polycystic ovaries.
Polycystic ovaries-urethral sphincter dysfunction syndrome
Touraine-Solente-Gole syndrome
with prominent pachydermia and minimal-to-absent skeletal changes.
Pachydermoperiostosis
KIAA0540
neurobeachin like 2
KIAA1395
ZIR1
dedicator of cytokinesis 6
myostatin
TGY
protein-glutamine gamma-glutamyltransferase 6
spinocerebellar ataxia 35
transglutaminase 6
spinocerebellar ataxia 36
NOP56 ribonucleoprotein
CATSPER
cation channel sperm associated 1
MGC4093
MKS10
B9 domain containing 2
Alpha 1,2-mannosidase
ER alpha 1,2-mannosidase
ERManI
Endoplasmic reticulum alpha-mannosidase 1
Endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 1
MANA-ER
MRT15
Man9GlcNAc2-specific processing alpha-mannosidase
endoplasmic Reticulum Class I alpha-mannosidase
mannosidase alpha class 1B member 1
CRSP130
DRIP130
Sur2
mediator complex subunit 23
UNC104
kinesin family member 1A
CDO
CDON1
ORCAM
cell adhesion molecule-related/down-regulated by oncogenes
cell adhesion associated, oncogene regulated
DNAJC5A
DnaJ heat shock protein family (Hsp40) member C5
Kuzniecky syndrome
Pachygyria-intellectual disability-epilepsy syndrome is a rare, genetic neurological disorder characterized by the presence of diffuse pachygyria and arachnoid cysts, psychomotor developmental delay and intellectual disability. Seizures (absence, atonic and generalized tonic-clonic) and, on occasion, headache are also associated.
Pachygyria-intellectual disability-epilepsy syndrome
CP24
cytochrome P450 family 24 subfamily A member 1
Spasmus nutans (SN) is a rare eye disease characterized by the clinical triad of asymmetric and pendular nystagmus, head nodding, and torticollis.
Spasmus nutans
Acute endophthalmitis
Chronic endophthalmitis
Toxic maculopathy due to antimalarial drugs is a rare, acquired eye disease, due to long-term exposure to chloroquinine (CQ) or hydrochloroquinine (HCQ), characterized by a slowly progressive, usually non-reversible, development of bilateral atrophic bull's-eye maculopathy (progressive loss of central vision acuity, reduced color vision and central scotoma), which in severe cases can spread over the entire fundus, leading to widespread retinal atrophy and visual loss.
Toxic maculopathy due to antimalarial drugs
Primary oculocerebral non-Hodgkin lymphoma
Primary oculocerebral lymphoma is a rare, primary, organ-specific, extranodal non-Hodgkin's lymphoma (typically diffuse large B-cell lymphoma), simultaneously affecting the intraocular compartments (retina, vitreous, optic nerve, uvea and others) and the central nervous system (commonly the cerebellum, spinal cord or pia mater). The presenting symptoms vary depending on the localization of the tumor and may include vitreous floaters or blurred vision, raised intracranial pressure (headache, vomiting, papilledema) and/or focal neurological deficits.
Primary oculocerebral lymphoma
PIOL
Primary intraocular non-Hodgkin's lymphoma
Primary intraocular lymphoma
Primary organ-specific lymphoma
Intermediate uveitis
Infectious posterior uveitis
Infectious anterior uveitis
Infectious panuveitis
Paraneoplastic uveitis
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
Hereditary neutrophilia
POIS
Postorgasmic illness syndrome is a rare urogenital disease characterized by the appearance of flu-like symptoms (fever, extreme fatigue, myalgia, itchy burning eyes, nasal congestion/rhinorrhea), as well as mood changes, irritability and concentration, memory and attention difficulties, within a few minutes to a few hours after ejaculation. Symptoms disappear spontaneously 3-7 days after onset.
Postorgasmic illness syndrome
Adenosylcobalamin deficiency
Vitamin B12-responsive methylmalonic aciduria
Vitamin B12-responsive methylmalonic acidemia
4p- syndrome
Distal deletion 4p
Distal monosomy 4p
Telomeric deletion 4p
Wolf-Hirschhorn syndrome (WHS) is a developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia.
Wolf-Hirschhorn syndrome
Extramammary Paget disease
An Orphanet summary for this disease is currently under development. However, other data related to the disease are accessible from the Additional Information menu located on the right side of this page.
Calciphylaxis
Calciphylaxis cutis is a life-threatening syndrome characterized by progressive and painful skin ulcerations associated with media calcification of medium-size and small cutaneous arterial vessels. It affects mainly patients on dialysis or after renal transplantation.
Calciphylaxis cutis
Visceral calciphylaxis is a rare, life-threatening, non-inflammatory vasculopathy disorder characterized by diffuse precipitation of calcium in viscera (mainly in the heart or lungs, but also in the stomach or kidneys) leading to fibrosis and thrombosis, which eventually cause necrotic ulcerations of the tissue. Patients may present with dyspnea, cough and respiratory failure or acute heart block and subsequent sudden cardiac death, depending on the affected organ. The disease mainly affects patients on dialysis or patients having undergone renal transplantation.
Visceral calciphylaxis
CDG syndrome type Ip
CDG-Ip
CDG1P
Carbohydrate deficient glycoprotein syndrome type Ip
Congenital disorder of glycosylation type 1p
Congenital disorder of glycosylation type Ip
ALG11-CDG
GDP-Man:Man(3)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase
KIAA0266
ALG11, alpha-1,2-mannosyltransferase
Class VI beta-tubulin
tubulin beta 1 class VI
Familial osteoectasia
Hereditary hyperphosphatasia
Hyperostosis corticalis deformans juvenilis
JPG
Juvenile Paget's disease
Juvenile Paget disease is a very rare form of Paget disease of the bone characterized by a general increase in bone turnover with increased bone resorption and deposition, resulting in cortical and trabecular thickening, and clinically presenting as progressive skeletal deformities, growth impairment, fractures, vertebral collapse, skull enlargement and sensorineural hearing loss.
Juvenile Paget disease
p60
p62B
sequestosome 1
C3 deficiency
Complement component 3 deficiency is a rare, genetic, primary immunodeficiency characterized by susceptibility to infection (mainly by gram negative bacteria) due to extremely low C3 plasma levels. Patients typically present recurrent episodes of sinusitis, tonsillitis, and/or otitis, as well as upper and lower respiratory tract infections (including pneumonia) and skin infections, such as erythema multiforme. Autoimmune disease resembling systemic lupus erythematosus and mesangiocapillary or membranoproliferative glomerulonephritis may develop, resulting in renal failure.
Complement component 3 deficiency
SCID due to LCK deficiency
SCID due to lymphocyte-specific protein tyrosine kinase deficiency
Severe combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency
Severe combined immunodeficiency due to LCK deficiency
LCK proto-oncogene, Src family tyrosine kinase
Methylmalonic acidemia, TCb1R type
Methylmalonic acidemia, TCbIR type
Methylmalonic aciduria due to transcobalamin receptor defect is a rare metabolite absorption and transport disorder characterized by a moderate increase of methylmalonic acid (MMA) in the blood and urine due to decreased cellular uptake of cobalamin resulting from decreased transcobalamin receptor function. Patients are usually asymptomatic however, screening reveals increased C3-acylcarnitine and MMA in plasma. Serum homocysteine levels may vary from normal to moderately elevated and retinal vascular occlusive disease, resulting in severe visual loss, has been reported.
Methylmalonic aciduria due to transcobalamin receptor defect
8D6
8D6 antigen
8D6A
CD320 molecule
Septopreoptic HPE
Septopreoptic holoprosencephaly (HPE) is a very rare subtype of lobar HPE (see this term) characterized by midline fusion limited to the septal and/or preoptic regions of the telencephalon without a significant frontal neocortical fusion.
Septopreoptic holoprosencephaly
Pagon-Bird-Detter syndrome
X-linked sideroblastic anemia with ataxia
XLSA-A
X-linked sideroblastic anemia and ataxia (XLSA-A) is a rare syndromic, inherited form of sideroblastic anemia (see this term) characterized by mild to moderate anemia (with hypochromia and microcytosis) and early-onset, non- or slowly progressive spinocerebellar ataxia.
X-linked sideroblastic anemia and spinocerebellar ataxia
HPE, minor form
HPE-L
Holoprosencephaly-like
Holoprosencéphalie, minor form
Microform HPE
Microform holoprosencephaly is a benign form of holoprosencephaly (HPE; see this term) characterized by midline defects without the typical HPE defect in brain cleavage.
Microform holoprosencephaly
LTEC0
Laryngo-tracheo-esophageal cleft type 0
Laryngo-tracheo-esophageal cleft (LC) type 0 is a congenital respiratory tract anomaly characterized by a submucosal laryngo-tracheo-esophageal cleft with minor symptoms or an asymptomatic course.
Laryngotracheoesophageal cleft type 0
Connatal PMD
Pelizaeus-Merzbacher disease type II
Severe PMD
The connatal form of Pelizaeus-Merzbacher disease (PMD) is the most severe form of PMD (see this term).
Pelizaeus-Merzbacher disease, connatal form
Classic PMD
The classic form of Pelizaeus-Merzbacher disease (PMD) is the infantile form of PMD.
Pelizaeus-Merzbacher disease, classic form
Transitional PMD
The transitional form of Pelizaeus-Merzbacher disease (PMD) is the intermediate form of PMD (see this term).
Pelizaeus-Merzbacher disease, transitional form
gene (Xq22).
Pelizaeus-Merzbacher disease in female carriers
PLP1 null syndrome
Pelizaeus-Merzbacher disease, null syndrome
The null syndrome is part of the Pelizaeus-Merzbacher disease (PMD; see this term) spectrum and is characterized by mild PMD features associated with demyelinating peripheral neuropathy.
Null syndrome
PMLD
Pelizaeus-Merzbacher like disease (PMLD) is an autosomal recessive leukodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease (PMD; see this term).
Pelizaeus-Merzbacher-like disease
PMLD1
Pelizaeus-Merzbacher-like disease due to GJC2 mutation
Mitochondrial HSP60 chaperonopathy
Pelizaeus-Merzbacher-like disease due to HSPD1 mutation
Pelizaeus-Merzbacher-like disease due to AIMP1 mutation
AIP type 1
IgG4-related pancreatitis
Lymphoplasmacytic sclerosing pancreatitis
60 years) and presenting with abdominal pain, steatorrhea, obstructive jaundice and other organ (bile duct, kidneys and retroperitoneum) involvement. It is thought to be due to an immunoglobulin G4 (IgG4)-associated systemic disease.
Autoimmune pancreatitis type 1
AIP type 2
Duct-centric pancreatitis
60 years) and presenting with abdominal pain, steatorrhea and obstructive jaundice.
Autoimmune pancreatitis type 2
12p13.33 microdeletion syndrome
Distal deletion 12p
Distal monosomy 12p is a rare partial autosomal monosomy characterized by language development delay with childhood apraxia of speech, mild intellectual disability, behavourial abnormalities (autistic spectrum disorder, attention deficit hyperactivity disorder, anxiety) and mildly dysmorphic nonspecific features. Additional clinical features may include muscular hypotonia and joint laxity, hernias and microcephaly.
Distal monosomy 12p
LGMD2P
Autosomal recessive limb-girdle muscular dystrophy type 2P (LGMD2P) is a form of limb-girdle muscular dystrophy characterized by slowly-progressive, mainly proximal, muscle weakness presenting in early childhood (with difficulties walking and climbing stairs) and mild to severe intellectual disability. Additional manifestations reported include microcephaly, mild increase in thigh or calf muscles, and contractures of the ankles.
Autosomal recessive limb-girdle muscular dystrophy type 2P
Rare systemic or rheumatological disease of childhood
156DAG
A3a
AGRNR
DAG
alpha-dystroglycan
beta-dystroglycan
dystrophin-associated glycoprotein-1
dystroglycan 1
FPLD4
PLIN1-related FPLD
PLIN1-related familial partial lipodystrophy
perilipin 1
Autosomal semi-dominant severe lipodystrophic laminopathy
Rare pediatric vasculitis
Rare pediatric systemic disease
Erythropoietic uroporphyria associated with myeloid malignancy
IDMDC
Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome is a rare, genetic, syndromic intellectual disabilty disorder characterized by severe intellectual disability, progressive, postnatal, multiple joint contractures and severe motor dysfunction. Patients present arrest and regression of motor function and speech acquisition, as well as contractures which begin in lower limbs and slowly progress in an ascending manner to include spine and neck, resulting in individuals presenting a specific fixed position.
Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome
Erlin-2
NET32
ER lipid raft associated 2
. Patients present with a prolonged, atypical course (absence of myoclonus or ataxia) unlike other forms of prion disease with severe neurofibrillary tangle pathology and high levels of cerebral amyloidosis.
Familial Alzheimer-like prion disease
Pallister-W syndrome
W syndrome is characterised by intellectual deficit, epileptic seizures and facial dysmorphism. Skeletal anomalies are also often present. To date, it has been described in six male patients. The mode of transmission appears to be X-linked dominant.
W syndrome
Familial prion disease
Inherited prion disease
Familial omphalocele syndrome with facial dysmorphism is a rare genetic developmental defect during embryogenesis characterized by omphalocele associated with facial dysmorphism including flat face, short, upturned nose, long and wide philtrum and flattened maxillary arch and abnormalities of hands.
Familial omphalocele syndrome with facial dysmorphism
Familial steroid-resistant nephrotic syndrome with sensorineural deafness is a rare, genetic coenzyme Q10 deficiency characterized by sensorineural deafness and severe, progressive nephrotic syndrome not responding to steroid treatment. Clinical manifestations include early onset proteinuria, hypoalbuminemia and edema, leading to end-stage renal disease. The renal biopsy reveals focal segmental glomerulosclerosis and diffuse mesangial sclerosis. Rarely, seizures, ataxia and dysmorphic features have been described.
Familial steroid-resistant nephrotic syndrome with sensorineural deafness
CGI-10
coenzyme Q6, monooxygenase
Congenital pancreatic agenesis
Partial agenesis of the pancreas
Partial agenesis of the pancreas is characterized by the congenital absence of a critical mass of pancreatic tissue.
Partial pancreatic agenesis
Fatal infantile hypertonic myofibrillar myopathy is a rare, genetic skeletal muscle disease characterized by muscle stiffness and rigidity, hypertonia, weakness, respiratory distress and normal cognition. Patients have persistently elevated creatine kinase and histopathology is typical of myofibrillar myopathy. The manifestation onset follows the short period of normal infantile development and leads to progressive respiratory insufficiency and early death.
Fatal infantile hypertonic myofibrillar myopathy
WABS
Warsaw breakage syndrome
CHL1
CHL1-like helicase homolog (S. cerevisiae)
CHLR1
KRG2
DEAD/H-box helicase 11
Crescentic glomerulonephritis
RPGN
Rapidly progressive glomerulonephritis
NGPS
Nestor-Guillermo progeria syndrome is a rare, genetic, progeroid syndrome characterized by a prematurely aged appearance associated with severe osteolysis (notably on mandible, clavicles, ribs, distal phalanges, and long bones), osteoporosis, generalized lipoatrophy and absence of cardiovascular, atherosclerotic and metabolic complications, presenting a relatively long survival. Additional characteristics include growth retardation, joint stiffness (mainly of fingers, hands, knees, and elbows), wide cranial sutures, dysmorphic facial features (prominent eyes, convex nasal ridge, malocclusion, dental crowding, thin lip vermillion, microretrognathia) and persistent eyebrows, eyelashes and scalp hair.
Nestor-Guillermo progeria syndrome
BAF
barrier to autointegration factor 1
gPAPP deficiency
Chondrodysplasia with joint dislocations, gPAPP type is a rare, genetic, primary bone dysplasia characterized by prenatal onset of disproportionate short stature, shortening of the limbs, congenital joint dislocations, micrognathia, posterior cleft palate, brachydactyly, short metacarpals and irregular size of the metacarpal epiphyses, supernumerary carpal ossification centers and dysmorphic facial features. In addition, hearing impairment and mild psychomotor delay have also been reported.
Chondrodysplasia with joint dislocations, gPAPP type
IMPA3
gPAPP
golgi-resident nucleotide phosphatase
inositol monophosphatase domain containing 1
Hereditary sensorimotor neuropathy with hyperelastic skin is a rare, genetic, demyelinating hereditary motor and sensory neuropathy disorder characterized by slowly progressive, mild to moderate, distal muscle weakness and atrophy of the upper and lower limbs and variable distal sensory impairment, associated with variable hyperextensible skin and age-related macular degeneration. Hypermobility of distal joints, high palate, and minor skeletal abnormalities (e.g. pectus excavatus, dolichocephaly) may also be associated.
Hereditary sensorimotor neuropathy with hyperelastic skin
Dawson's encephalitis
SSPE
Subacute inclusion body encephalitis
Subacute sclerosing panencephalitis
Van Bogaert disease
Van Bogaert encephalitis
Subacute sclerosing panencephalitis (SSPE) is a chronic progressive encephalitis that develops a few years after measles infection and presents with a demyelination of the cerebral cortex.
Subacute sclerosing leukoencephalitis
Transient neonatal cyanosis and anemia due to Toms River Hemoglobin
Hemoglobinopathy Toms River is a rare, genetic hemoglobinopathy disorder, due to a defect in the gama subunit of the fetal hemoglobin, characterized by neonatal cyanosis, low hemoglobin oxygen saturation levels without arterial hypoxemia, moderate anemia and reticulocytosis, not associated with heart or lung disease. Symptoms progressively subside within the first months of life.
Hemoglobinopathy Toms River
EPM6
GOSR2-related progressive myoclonus ataxia
North Sea progressive myoclonus epilepsy
PME type 6
Progressive myoclonus epilepsy type 6
Progressive myoclonic epilepsy type 6
Bos1
GS27
golgi SNAP receptor complex member 2
FPHH
Familial progressive hyper- and hypopigmentation is a rare, genetic, skin pigmentation anomaly disorder characterized by progressive, diffuse, partly blotchy, hyperpigmented lesions that are intermixed with multiple café-au-lait spots, hypopigmented maculae and lentigines and are located on the face, neck, trunk and limbs, as well as, frequently, the palms, soles and oral mucosa. Dispigmentation pattern can range from well isolated café-au-lait/hypopigmented patches on a background of normal-appearing skin to confetti-like or mottled appearance.
Familial progressive hyper- and hypopigmentation
Congenital disorder of glycosylation due to PIGN deficiency
PIGN-CDG
Multiple congenital anomalies-hypotonia-seizures syndrome
MDC4
PIG-N
phosphatidylinositol glycan anchor biosynthesis class N
Occipital MCD
Occipital malformations of cortical development
Occipital pachygyria and polymicrogyria is a rare, genetic, cerebral malformation characterized by the presence of cortical smoothening with loss of secondary and tertiary gyri, associated with an excessive number of small, irregular gyri with increased cortical thickness, located in the occipital lobes. Patients usually present with seizures (including myoclonic-astatic, absence, atypical absence, vision loss, myoclonic-atonic, generalized tonic-clonic) and variable (absent to moderate) developmental and/or intellectual delay.
Occipital pachygyria and polymicrogyria
laminin subunit gamma 3
Acrodysostosis with multiple hormone resistance
Autosomal recessive nail dysplasia is a rare, isolated nail anomaly characterized by claw-shaped, thick, hyperplastic, hard and hyperpigmented nails, subungual hyperkeratosis, onycholysis and slow nail growth. Variable degree of disease severity has been reported.
Autosomal recessive nail dysplasia
Hfz6
frizzled class receptor 6
HPS9
Hermansky-Pudlak syndrome type 9
biogenesis of lysosomal organelles complex 1 subunit 6
Congenital megaconial myopathy
Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect
Congenital muscular dystrophy with mitochondrial structural abnormalities
Megaconial congenital muscular dystrophy
CHETK
choline kinase beta
Moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism
Moyamoya angiopathy - short stature - facial dysmorphism - hypergonadotropic hypogonadism is a very rare, hereditary, neurological, dysmorphic syndrome characterized by moyamoya disease, short stature of postnatal onset, and stereotyped facial dysmorphism.
Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome
CPP
Choroid plexus papilloma
Papilloma of the choroid plexus is a rare benign type of choroid plexus tumor (see this term), accounting for 1% of all brain tumors, often occurring in the fourth ventricle (in adults) and the lateral ventricle (in children) but sometimes arising ectopically in the brain parenchyma, and presenting with nausea, vomiting, papilledema, abnormal eye movements, as well as enlarged head circumference, seizures and gait impairment due to an increase in intracranial pressure.
Papilloma of choroid plexus
AP4 deficiency syndrome
Severe intellectual disability and progressive spastic paraplegia is a rare complex spastic paraplegia characterized by an early onset hypotonia that progresses to spasticity, global developmental delay, severe intellectual disability and speech impairment, microcephaly, short stature and dysmorphic features. Patients often become non-ambulatory, and some develop seizures and stereotypic laughter.
Severe intellectual disability and progressive spastic paraplegia
GET
Generalized essential telangiectasia
CCV
Cutaneous collagenous vasculopathy (CCV) is a primary microangiopathy confined to the skin, characterized by multiple and widespread telangiectasias.
Cutaneous collagenous vasculopathy
Bullous DCM
Bullous diffuse cutaneous mastocytosis (BDCM) is a form of diffuse cutaneous mastocytosis (DCM; see this term) characterized by generalized erythroderma and severe blistering associated with the accumulation of mast cells in the skin.
Bullous diffuse cutaneous mastocytosis
Infiltrative small vesicular DCM
Infiltrative small vesicular diffuse cutaneous mastocytosis
Pseudoxanthomatous DCM
Pseudoxanthomatous diffuse cutaneous mastocytosis (PDCM) is a rare form of diffuse cutaneous mastocytosis (DCM; see this term) characterized by yellow-orange infiltrated and xanthogranuloma-like lesions with only limited blistering.
Pseudoxanthomatous diffuse cutaneous mastocytosis
Familial vocal cord dysfunction
Gerhardt syndrome
Laryngeal abductor paralysis
Congenital intrapulmonary sequestration
Intralobar congenital bronchopulmonary sequestration
Intralobar congenital pulmonary sequestration
Congenital extrapulmonary sequestration
Extralobar congenital bronchopulmonary sequestration
Extralobar congenital pulmonary sequestration
Communicating congenital bronchopulmonary-foregut malformation
CPAM type 0
Congenital cystic adenomatoid malformation of the lung type 0
Congenital cystic adenomatous malformation of the lung type 0
Congenital pulmonary airway malformation type 0
CCAM type 1
CPAM type 1
Congenital cystic adenomatoid malformation of the lung type 1
Congenital cystic adenomatous malformation of the lung type 1
Congenital cystic disease of the lung type 1
Congenital pulmonary airway malformation type 1
CCAM type 2
CPAM type 2
Congenital cystic adenomatoid malformation of the lung type 2
Congenital cystic adenomatous malformation of the lung type 2
Congenital cystic disease of the lung type 2
Congenital pulmonary airway malformation type 2
CCAM type 3
CPAM type 3
Congenital cystic adenomatoid malformation of the lung type 3
Congenital cystic adenomatous malformation of the lung type 3
Congenital cystic disease of the lung type 3
Congenital pulmonary airway malformation type 3
CPAM type 4
Congenital cystic adenomatoid malformation of the lung type 4
Congenital cystic adenomatous malformation of the lung type 4
Congenital pulmonary airway malformation type 4
Iridocyclitis
Anterior uveitis
Choroiditis
Posterior uveitis
Total uveitis
Panuveitis
Familial recurrent Bell palsy
Familial recurrent peripheral facial palsy is a rare peripheral neuropathy characterized by an acute onset of unilateral facial muscle weakness with Bell's phenomenon. It is non-progressive, resolves spontaneously, and it might be recurrent with no obvious precipitating factors.
Familial recurrent peripheral facial palsy
Idiopathic anterior uveitis
Idiopathic posterior uveitis is a rare, potentially sight-threatening, ocular disease, not attributed to any specific ocular or systemic cause, characterized by focal, multifocal or diffuse non-infectious inflammation in the posterior uvea (i.e. choroiditis, chorioretinitis, retinitis and neuroretinitis). Visual morbidity due to complications (including cystoid macular edema and choroidal neovascularization) has been reported.
Idiopathic posterior uveitis
Idiopathic panuveitis is a rare inflammatory eye disease, of unknown etiology, characterized by generalized inflammation of the uvea (iris, ciliary body, choroid), retina and vitreous with consequent ciliary spasm and posterior synechiae formation, leading to acute or chronic, unilateral or bilateral visual impairment and ocular discomfort or pain. Patients present an increased risk of development of cataracts, secondary glaucoma, cystoid macular edema and/or retinal detachment. It could potentially result in vision loss.
Idiopathic panuveitis
Systemic diseases with anterior uveitis
Systemic diseases with posterior uveitis
Systemic diseases with panuveitis
Cri du chat syndrome
Deletion 5p
Monosomy 5p, also known as Cri du chat syndrome, is a rare autosomal deletion syndrome characterized by a mewing cry (cri du chat) in infancy, multiple congenital anomalies, intellectual disability, microcephaly, and facial dysmorphism.
Monosomy 5p
Inherited non-syndromic ichthyosis
Inherited ichthyosis syndromic form
Recessive X-linked ichthyosis with extracutaneous manifestations
Syndromic RXLI
Syndromic recessive X-linked ichthyosis (RXLI) refers to the cases of RXLI (see this term) that are associated with extracutaneous manifestations as part of a syndrome.
Syndromic recessive X-linked ichthyosis
ARCI
Autosomal recessive congenital ichthyosis
KPI
Keratinopathic ichthyosis
SHCB
SICI
Self-healing collodion baby
Self-improving congenital ichthyosis
Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis (ARCI; see this term) characterized by the presence of a collodion membrane at birth that heals within the first weeks of life.
Self-improving collodion baby
Acral SHCB
Acral self-healing collodion baby (SHCB) is a variant of SHCB (see this term) characterized by the presence at birth of a collodion membrane only at the extremities.
Acral self-healing collodion baby
AEI
Annular epidermolytic ichthyosis (AEI) is a rare clinical variant of epidermolytic ichthyosis (EI; see this term) characterized by the presence of a blistering phenotype at birth and the development from early infancy of annular polycyclic erythematous scales on the trunk and extremities.
Annular epidermolytic ichthyosis
CRIE
IWC
Ichthyosis variegata
Ichthyosis with confetti
Congenital reticular ichthyosiform erythroderma
Hard skin syndrome, Parana type
Parana hard skin syndrome is a rare genetic skin disorder characterized by very early-onset of progressive skin thickening over the entire body (except for eyelids, neck and ears), progressively limited joint mobility with gradual freezing of joints, and eventual severe chest and abdomen movement restriction, manifesting with restrictive pulmonary disease, which may lead to death. Additional features include severe growth restriction and osteoporosis. There have been no further descriptions in the literature since 1974.
Parana hard skin syndrome
KLICK syndrome
Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome is an inherited epidermal disorder characterized by palmoplantar keratoderma, linear hyperkeratotic papules on the flexural side of large joints (cord-like distribution around wrists, in antecubital and popliteal folds), hyperkeratotic plaques (on neck, axillae, elbows, wrists, and knees), mild ichthyosiform scaling, and sclerotic constrictions around fingers that present flexural deformities.
Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
X-linked ichthyosis syndrome
Autosomal ichthyosis syndrome
Autosomal ichthyosis syndrome with prominent hair abnormalities
use http://www.orpha.net/ORDO/Orphanet_33364 with label: Trichothiodystrophy
OBSOLETE: Congenital ichthyosis with trichothiodystrophy
Autosomal ichthyosis syndrome with prominent neurologic signs
Autosomal ichthyosis syndrome with fatal disease course
Autosomal ichthyosis syndrome with other associated signs
CHAP1/DSK2
Chap1
Dsk2
LIC-2
N4BP4
NEDD4 binding protein 4
PLIC-2
PLIC2
RIHFB2157
ubiquilin 2
HSPC014
UMP1
proteassemblin
proteasome maturation protein
FIL1
FIL1(DELTA)
FIL1D
IL-1 related protein 3
IL-1F5
IL1HY1
IL1L1
IL1RP3
IL36RA
family of interleukin 1-delta
interleukin-1 HY1
interleukin-1 receptor antagonist homolog 1
interleukin 36 receptor antagonist
AKT
PKB
PRKBA
RAC
protein kinase B
AKT serine/threonine kinase 1
KIAA0978
ASXL transcriptional regulator 1
heparan sulfate 6-O-sulfotransferase 1
Wells-Jankovic syndrome
Spastic paraparesis-deafness syndrome is a chronic neurodegenerative disorder characterised by spastic paraparesis (beginning at about 10 years of age) and hearing deficits.
Spastic paraparesis-deafness syndrome
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_71277 with label: Encephalopathy due to GLUT1 deficiency
Spastic paraplegia-epilepsy-intellectual disability syndrome
NDE
NUDE
nudE neurodevelopment protein 1
biliverdin reductase A
DXS707
TE2
N(alpha)-acetyltransferase 10, NatA catalytic subunit
Spastic paraplegia-glaucoma-intellectual disability syndrome is characterized by progressive spastic paraplegia, glaucoma and intellectual deficit. It has been described in two families. The second described sibship was born to consanguineous parents. The mode of inheritance is autosomal recessive.
Spastic paraplegia-glaucoma-intellectual disability syndrome
hemoglobin subunit delta
X-prolyl aminopeptidase 2
nodal growth differentiation factor
Bahemuka-Brown syndrome
Spastic paraplegia-facial-cutaneous lesions syndrome is a complex form of hereditary spastic paraplegia characterized by delays in motor development followed by a slowly progressive spastic paraplegia (affecting mainly lower extremities) associated with a desquamating facial rash with butterfly distribution (presenting at around two months of age) and dysarthria. There have been no further descriptions in the literature since 1982.
Spastic paraplegia-facial-cutaneous lesions syndrome
delta like canonical Notch ligand 1
FTD
Frontotemporal dementia (FTD) comprises a group of neurodegenerative disorders, characterized by progressive changes in behavior, executive dysfunction and language impairment, as a result of degeneration of the medial prefrontal and frontoinsular cortices. Four clinical subtypes have been identified: semantic dementia, progressive non-fluent aphasia, behavioral variant FTD and right temporal lobar atrophy (see these terms).
Frontotemporal dementia
Fitzsimmons-Walson-Mellor syndrome
Spastic paraplegia-nephritis-deafness syndrome is a complex form of hereditary spastic paraplegia characterized by progressive, variable spastic paraplegia associated with bilateral sensorineural deafness, intellectual disability, and progressive nephropathy. There have been no further descriptions in the literature since 1988.
Spastic paraplegia-nephritis-deafness syndrome
Antinolo-Nieto-Borrego syndrome
Spastic paraplegia-neuropathy-poikiloderma syndrome is a complex form of hereditary spastic paraplegia characterized by spastic paraplegia, demyelinating peripheral sensorimotor neuropathy, poikiloderma (manifesting with loss of eyebrows and eyelashes in childhood in addition to delicate, smooth, and wasted skin) and distal amyotrophy (presenting after puberty). There have been no further descriptions in the literature since 1992.
Spastic paraplegia-neuropathy-poikiloderma syndrome
Partial monosomy of chromosome 12
Partial deletion of chromosome 12
Inherited CJD
Inherited or familial Creutzfeldt-Jakob disease (fCJD) is a very rare form of genetic prion disease (see this term) characterized by typical CJD features (rapidly progressive dementia, personality/behavioral changes, psychiatric disorders, myoclonus, and ataxia) with a genetic cause and sometimes a family history of dementia.
Inherited Creutzfeldt-Jakob disease
APS
Autoimmune polyglandular syndrome
Autoimmune polyendocrinopathy
Nakamura-Osame syndrome
SPG11
Spastic paraplegia-intellectual disability-thin corpus callosum syndrome
Autosomal recessive spastic paraplegia type 11
use http://www.orpha.net/ORDO/Orphanet_98 with label: Autosomal recessive spastic ataxia of Charlevoix-Saguenay
OBSOLETE: Paraplegia-brachydactyly-cone-shaped epiphysis syndrome
Fitzsimmons-McLachlan-Gilbert syndrome
Paraplegia-intellectual disability-hyperkeratosis syndrome is characterized by intellectual deficit, spasticity in the lower limbs (spastic paraplegia), pes cavus deformity of both feet, an abnormal gait, and palmar and plantar hyperkeratosis. It has been reported in four brothers. The mother of the affected boys had normal intelligence, plantar hyperkeratosis and a strong facial resemblance to her retarded sons. Her three daughters were normal. This syndrome most likely an X-linked recessive condition.
Paraplegia-intellectual disability-hyperkeratosis syndrome
Poikiloderma-alopecia-retrognathism-cleft palate syndrome
PARC syndrome is a rare genetic developmental defect during embryogenesis syndrome characterized by the association of congenital poikiloderma (P), generalized alopecia (A), retrognathism (R) and cleft palate (C). There have been no further descriptions in the literature since 1990.
PARC syndrome
Spastic paraplegia-precocious puberty syndrome is a complex form of hereditary spastic paraplegia characterized by the onset of progressive spastic paraplegia associated with precocious puberty (due to Leydig cell hyperplasia) in childhood (at the age of 2 years). Moderate intellectual disability was also reported. There have been no further descriptions in the literature since 1983.
Spastic paraplegia-precocious puberty syndrome
GluN1
glutamate ionotropic receptor NMDA type subunit 1
Early-onset Parkinson disease
YOPD
Young-onset Parkinson disease (YOPD) is a form of Parkinson disease (PD), characterized by an age of onset between 21-45 years, rigidity, painful cramps followed by tremor, bradykinesia, dystonia, gait complaints and falls, and other non-motor symptoms. A slow disease progression and a more pronounced response to dopaminergic therapy are also observed in most YOPD forms.
Young-onset Parkinson disease
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_193 with label: Cohen syndrome
Demodicosis
mite infestation characterized by variable degrees of spinulosis, erythema, papules, and pustules, usually accompanied by a burning or pruritic sensation. Face (incl. eyelids) is most frequently affected, but ear canal, scalp, neck, back, chest, nipples, buttocks, penis, and extremity (legs and arms) involvement have also been observed. Dermoscopic examination reveals Demodex tails and follicular openings.
Demodicidosis
Rhizomelic dysplasia, Patterson-Lowry type is a rare primary bone dysplasia characterized by short stature, severe rhizomelic shortening of the upper limbs associated with specific malformations of humeri (including marked widening and flattening of proximal metaphyses, medial flattening of the proximal epiphyses, and lateral bowing with medial cortical thickening of the proximal diaphyses), marked coxa vara with dysplastic femoral heads and brachimetacarpalia.
Rhizomelic dysplasia, Patterson-Lowry type
Lopes-Gorlin syndrome
Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes.
Short tarsus-absence of lower eyelashes syndrome
Stiff skin syndrome is a rare, slowly progressive cutaneous disease characterized by rock-hard skin bound firmly to the underlying tissues (mainly on the shoulders, lower back, buttocks and thighs), mild hypertrichosis and hyperpigmentation overlying the affected areas of skin, as well as limited joint mobility (mainly of large joints) with flexion contractures. Cutaneous nodules, affecting mostly distal interphalangeal joints, as well as extracutaneous manifestations, including diffuse entrapment neuropathy, scoliosis, a tiptoe gait and a narrow thorax, may be associated. Restrictive pulmonary changes, muscle weakness, short stature and growth delay have also been reported. No vascular hyperreactivity, immunologic abnormalities nor visceral, muscular or bone involvement has been described.
Stiff skin syndrome
WSS
Wrinkled skin syndrome
Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism).
Wrinkly skin syndrome
Zori-Stalker-Williams syndrome
Pectus excavatum-macrocephaly-dysplastic nails syndrome is a rare multiple congenital anomalies syndrome characterized by relative macrocephaly, pectus excavatum, short stature, nail dysplasia, and motor developmental delay (that resolves during childhood). There have been no further descriptions in the literature since 1992.
Pectus excavatum-macrocephaly-dysplastic nails syndrome
Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy
Progressive encephalopathy-optic atrophy syndrome
PEHO (Progressive encephalopathy with Edema, Hypsarrhythmia and Optic atrophy) syndrome is a rare neurodegenerative disorder belonging to the group of infantile progressive encephalopathies.
PEHO syndrome
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_220295 with label: Xeroderma pigmentosum-Cockayne syndrome complex
Pellagra-like skin rash-neurological manifestations syndrome
Keratosis palmoplantaris-corneal dystrophy syndrome
Oculocutaneous tyrosinemia
Richner-Hanhart syndrome
Tyrosinemia due to TAT deficiency
Tyrosinemia due to tyrosine aminotransferase deficiency
Tyrosinemia type II
Tyrosinemia type 2 is an inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and, in some cases, intellectual deficit.
Tyrosinemia type 2
Renal caliceal diverticuli-deafness syndrome is a rare, syndromic, developmental defect during embryogenesis characterized by urinary tract and kidney anomalies, such as renal pelviocaliceal attenuation with multiple tiny caliceal diverticula, associated with sensorineural hearing loss. There have been no further descriptions in the literature since 1981.
Renal caliceal diverticuli-deafness syndrome
Kosenow syndrome
Scapuloiliac dysostosis
Pelvis-shoulder dysplasia is a rare focal skeletal dysostosis characterized by symmetrical hypoplasia of the scapulae and the iliac wings of the pelvis.
Pelvis-shoulder dysplasia
KIAA1215
LPP1
LTAP
Loop-tail-associated protein
STB1
STBM
STBM1
Strabismus
Vang, van gogh-like 2
VANGL planar cell polarity protein 2
Echinococcus multilocularis infection
. AE is characterized by an initial asymptomatic incubation period of many years followed by a chronic course where the clinical manifestations include epigastric pain and jaundice.
Alveolar echinococcosis
Ray-Peterson-Scott syndrome
Pelvic dysplasia-arthrogryposis of lower limbs syndrome is a rare, genetic, dysostosis syndrome characterized by intrauterine growth restriction, short stature (with short lower segment), lower limb joint contractures and muscular hypotrophy, narrow, small pelvis, lumbar hyperlordosis with scoliosis, and foot deformity (short, overlapping toes). Imaging reveals ovoid/wedge-shaped vertebral bodies, pelvic and skeletal hypoplasia with metatarsal fusion in the lower limbs, and normal skull and upper limbs.
Pelvic dysplasia-arthrogryposis of lower limbs syndrome
Benign chronic familial pemphigus of Hailey-Hailey
Hailey-Hailey disease
Benign chronic familial pemphigus of Hailey-Hailey is characterized by rhagades mostly located in the armpits, inguinal and perineal folds (scrotum, vulva).
Familial benign chronic pemphigus
HLC14-06-P
nucleoside-triphosphate diphosphatase
inosine triphosphatase
Multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome
Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported.
Larsen-like syndrome, B3GAT3 type
GlcAT-I
galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3
glucuronosyltransferase I
beta-1,3-glucuronyltransferase 3
Kreiborg-Pakistani syndrome
Craniosynostosis-dental anomalies is a rare, genetic, cranial malformation syndrome characterized by premature fusion of multiple or all calvarial sutures (resulting in variable abnormal shape of the head), midface hypoplasia, delayed and ectopic tooth eruption and supernumerary teeth. Associated facial dysmorphism includes proptosis, hypertelorism, beaked nose, and relative prognathism. Variable digital anomalies (e.g. finger and/or toe syndactyly, clinodactyly), short stature, cognitive and/or motor delay, high palate, ear deformity and conductive hearing loss have also been reported.
Craniosynostosis-dental anomalies
interleukin 11 receptor subunit alpha
Deletion 8q21.11
Monosomy 8q21.11
8q21.11 microdeletion syndrome encompasses heterozygous overlapping microdeletions on chromosome 8q21.11 resulting in intellectual disability, facial dysmorphism comprising a round face, ptosis, short philtrum, Cupid's bow and prominent low-set ears, nasal speech and mild finger and toe anomalies.
8q21.11 microdeletion syndrome
10p12p11 microdeletion syndrome
Deletion 10p11.21p12.31
Monosomy 10p11.21p12.31
Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion is a rare, genetic syndromic intellectual disability characterized by developmental delay, hypotonia, speech delay, mild to moderate intellectual disability, abnormal behavior (autistic, aggressive, hyperactive) and dysmorphic facial features, including synophrys or thick eyebrows, deep set eyes, bulbous nasal tip and full cheeks. Congenital heart and brain anomalies, visual and hearing impairment are also common.
Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion
Dup(X)(p22)
Duplication Xp22
Xp22.13p22.2 duplication syndrome is a rare syndromic intellectual disability characterized by developmental delay and intellectual disability, learning and behavioral problems, short stature, thin and sparse hair, mild dysmorphic features, tapering fingers and later onset of scoliosis, obesity and cardiovascular problems (cardiomegaly and cardiomyopathy). Females have normal intelligence.
Xp22.13p22.2 duplication syndrome
Penoscrotal transposition (PST) is a rare congenital genital anomaly in which the scrotum is positioned superior and anterior to the penis. PST may present with a broad spectrum of anomalies ranging from simple shawl scrotum (doughnut scrotum) to very complex extreme transposition with craniofacial, central nervous system, cardiac, gastrointestinal, urological, and other genital (undescended testicles, hypospadias, chordee) malformations. Growth deficiency and intellectual disability may also be noticed (60% of cases).
Penoscrotal transposition
Telangiectasia-erythrocytosis-monoclonal gammopathy-perinephric-fluid collections-intrapulmonary shunting syndrome
TEMPI syndrome is a rare multi-systemic disease characterized by the presence of Telangiectasias, Erythrocytosis with elevated erythropoietin levels, Monoclonal gammopathy, Perinephric-fluid collections, and Intrapulmonary shunting.
TEMPI syndrome
CMT2O
Autosomal dominant Charcot-Marie-Tooth disease type 2O is a rare, genetic, subtype of autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by early childhood-onset of slowly progressive, predominantly distal, lower limb muscle weakness and atrophy, delayed motor development, variable sensory loss, and pes cavus in the presence of normal or near-normal nerve conduction velocities. Additional variable features may include proximal muscle weakness, abnormal gait, arthrogryposis, scoliosis, cognitive impairment, and spasticity.
Autosomal dominant Charcot-Marie-Tooth disease type 2O
DHC1
Dnchc1
HL-3
p22
dynein cytoplasmic 1 heavy chain 1
FRAM
Retinal arterial macroaneurysm and supravalvular pulmonic stenosis
Familial retinal arterial macroaneurysm is a rare, genetic cardiac disease characterized by an early onset of retinal artery macroaneurysms formation and concomitant supravalvular pulmonic stenosis, often requiring surgical correction.
Familial retinal arterial macroaneurysm
FSTL2
IGFBP-7
MAC25
PSF
insulin like growth factor binding protein 7
IgG4-related sclerosing disease
IgG4-related systemic disease
Immunoglobulin G4-related sclerosing disease
IgG4-related disease
Autosomal recessive spinocerebellar ataxia type 11
SCAR11
Autosomal recessive cerebellar ataxia-psychomotor retardation syndrome
sytXIV
synaptotagmin 14
Autosomal recessive spinocerebellar ataxia type 12
SCAR12
Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency is a rare autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome characterized by early-childhood onset of cerebellar ataxia associated with generalized tonic-clonic epilepsy and psychomotor development delay, dysarthria, gaze-evoked nystagmus and learning disability. Other features in some patients include upper motor neuron signs with leg spasticity and extensor plantar responses, and mild cerebellar atrophy on brain MRI.
Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency
Autosomal recessive spinocerebellar ataxia type 10
SCAR10
Adult-onset autosomal recessive cerebellar ataxia
anoctamin 10
Essential pentosuria
Xylitol dehydrogenase deficiency
Pentosuria is an inborn error of metabolism which is characterized by the excretion of 1 to 4 g of the pentose L-xylulose in the urine per day.
Pentosuria
Autosomal recessive spinocerebellar ataxia type 7
SCAR7
Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
Autosomal recessive spinocerebellar ataxia type 6
SCAR6
Infantile-onset autosomal recessive nonprogressive cerebellar ataxia
PCH7
Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome
Pontocerebellar hypoplasia type 7 (PCH7) is a novel very rare form of pontocerebellar hypoplasia (see this term) with unknown etiology and poor prognosis reported in four patients and is characterized clinically during the neonatal period by hypotonia, no palpable gonads, micropenis and from infancy by progressive microcephaly, apneic episodes, poor feeding, seizures and regression of penis. MRI demonstrates a pontocerebellar hypoplasia. PCH7 is expressed as PCH with 46,XY disorder of sex development (see this term) in individuals with XY karyotype, and may be expressed as PCH only in individuals with XX karyotype.
Pontocerebellar hypoplasia type 7
DICER1 syndrome
PPB familial tumor susceptibility syndrome
PPBFTDS
Pleuro-pulmonary blastoma familial tumor susceptibility syndrome
Pleuropulmonary blastoma familial tumor susceptibility syndrome
FLIT
Immature interstitial mesenchymal tumor
Fetal lung interstitial tumor
Familial intrahepatic cholestasis
RCVS
Reversible cerebral vasoconstriction syndrome (RCVS) is an infrequent cerebrovascular disorder characterized by severe headaches with or without focal neurological deficits or seizures, and a reversible segmental and multifocal vasoconstriction of cerebral arteries.
Reversible cerebral vasoconstriction syndrome
WDFA
Well-differentiated fetal adenocarcinoma of the lung is a rare, primary, low-grade, bronchopulmonary neoplasm characterized by a well-circumscribed, usually large, pulmonary mass that is histologically composed of glycogen-rich neoplastic glands and tubules that resemble fetal lungs at 10 to 16 weeks of gestation and benign adjacent stroma. It typically presents with chest pain, cough, dyspnea, hemoptysis and/or generalized, non-specific symptoms, such as night sweats, lethargy, poor appetite and weight loss.
Well-differentiated fetal adenocarcinoma of the lung
Poorly differentiated neuroendocrine carcinoma of the bladder
SCCB
Small cell bladder cancer
Small cell bladder carcinoma
Small cell carcinoma of the urinary bladder
Small cell carcinoma of the bladder (SCCB) is a very rare, poorly differentiated neuroendocrine epithelial bladder tumor characterized clinically by hematuria and/or dysuria and a highly aggressive course.
Small cell carcinoma of the bladder
Infantile glycerol kinase deficiency (GKD) is a severe form of GKD (see this term) characterized clinically by poor feeding, failure to thrive, salt-wasting dehydration, vomiting, Addisonian pigmentation, hypotonia, and disorders of consciousness. Some patients have complex GKD associated with adrenal hypoplasia congenita and/or Duchenne muscular dystrophy (DMD) (see these terms) with manifestations including intellectual deficit, dysmorphic facial features, abnormal external genitalia, strabismus, seizures, and progressive lethargy.
Glycerol kinase deficiency, infantile form
Juvenile glycerol kinase deficiency (GKD) is an uncommon form of GKD (see this term) characterized by Reye-like clinical manifestations including episodic vomiting, acidemia, and disorders of consciousness.
Glycerol kinase deficiency, juvenile form
Adult glycerol kinase deficiency (GKD) is an uncommon form of GKD (see this term) diagnosed fortuitously and characterized by pseudohypertriglyceridemia in otherwise healthy adults.
Glycerol kinase deficiency, adult form
PSAT deficiency
Phosphoserine aminotransferase deficiency is an extremely rare form of serine deficiency syndrome (see this term) characterized clinically in the two reported cases to date by acquired microcephaly, psychomotor retardation, intractable seizures and hypertonia.
Phosphoserine aminotransferase deficiency
GSD due to lactate dehydrogenase M-subunit deficiency
Glycogenosis due to lactate dehydrogenase M-subunit deficiency
Glycogenosis type 11
LDH-M subunit deficiency
Lactate dehydrogenase A deficiency
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
GSD due to lactate dehydrogenase H-subunit deficiency
Glycogenosis due to lactate dehydrogenase H-subunit deficiency
LDH-H subunit deficiency
Lactate dehydrogenase B deficiency
Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids
CLIPPERS is a rare neuroinflammatory disorder characterized by brainstem-predominant encephalomyelitis which typically presents with cerebellar and cranial nerve manifestations (gait ataxia, dysarthria, visual disorders, parasthesias), as well as brainstem, myelopathy and cognitive findings, that respond to steroid treatment. Punctate curvilinear post-gadolinium contrast enhancement predominantly in the pons and cerebellum is observed on brain MRI and prominent, perivascular, CD3+ T-cell predominantly lymphocytic inflammation in neuropathology.
CLIPPERS
AZOOR
Acute zonal occult outer retinopathy
AAOR
Acute annular outer retinopathy is a rare, acquired retinal disorder characterized by unilateral, acute onset, rapidly progressive visual field loss. Sometimes patients have photopsia and complain of floaters. Typical ophthalmoscopic finding is a unilateral, yellowish-white annular intraretinal line, splitting the retinal field to affected outer retina with thinning, and normal retina. Gradual spontaneous visual recovery has been observed.
Acute annular outer retinopathy
use http://www.orpha.net/ORDO/Orphanet_183625 with label: Rare genetic diabetes mellitus
OBSOLETE: Pancreatic beta cell agenesis with neonatal diabetes mellitus
Congenital pericardium anomaly comprises a group of rare congenital cardiac malformations characterized by the complete (Congenital complete agenesis of pericardium) or partial absence of the pericardium (Congenital partial agenesis of pericardium), or by the presence of pericardial cysts (Pleuropericardial cyst) (see these terms).
Congenital pericardium anomaly
Pericardial and diaphragmatic defect is a rare combination of absent pericardium with congenital diaphragmatic defect.
Pericardial and diaphragmatic defect
Qualitative or quantitative defects of troponin
Qualitative or quantitative defects of tropomyosin
Arthropathy-camptodactyly syndrome
CACP syndrome
Jacobs syndrome
Pericarditis-arthropathy-camptodactyly syndrome
Camptodactyly-arthropathy-coxa-vara-pericarditis (CACP) syndrome is a rare, genetic, rheumatologic disease characterized by congenital or early-onset camptodactyly and symmetrical, polyarticular, non-inflammatory, large joint arthropathy with synovial hyperplasia, as well as progressive coxa vara deformity and, occasionally, non-inflammatory pericarditis.
Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome
Ocular albinism
Syndromic oculocutaneous albinism
Disorder of phenylalanine metabolism
Disorder of tyrosine metabolism
Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome
Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumours (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism.
Perlman syndrome
MFS1
Marfan syndrome type 1
MFS2
Marfan syndrome type 2
Neonatal MFS
Neonatal Marfan syndrome is a rare, severe and life-threatening genetic disease, occuring during the neonatal period, characterized by classical Marfan syndrome manifestations in addition to facial dysmorphism (megalocornea, iridodonesis, ectopia lentis, crumpled ears, loose redundant skin giving a 'senile' facial appearance), flexion joint contractures, pulmonary emphysema, and a severe, rapidly progressive cardiovascular disease (including ascending aortic dilatation and severe mitral and/or tricuspid valve insufficiency). Additionally, skeletal manifestations (arachnodactyly, dolichostenomelia, pectus deformities) are also associated.
Neonatal Marfan syndrome
Aneurysm-osteoarthritis syndrome
Marfan and Marfan-related disorder
BJHS
Benign joint hypermobility syndrome
EDS III
Ehlers-Danlos syndrome type 3
Ehlers-Danlos syndrome, hypermobile type
HT-EDS
Ehlers-Danlos syndrome, hypermobility type (HT-EDS) is the most frequent form of EDS (see this term), a group of hereditary connective tissue diseases, and is characterized by joint hyperlaxity, mild skin hyperextensibility, tissue fragility and extra-musculoskeletal manifestations.
Ehlers-Danlos syndrome, hypermobility type
Perniola-Krajewska-Carnevale syndrome
Alopecia-intellectual deficit syndrome is an extremely rare syndrome described in less than 20 families to date and characterized by total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures, sensorineural hearing loss, delayed psychomotor development, and/or hypertonia.
Alopecia-intellectual disability syndrome
Rare disease with thoracic aortic aneurysm and aortic dissection
PARK18
eukaryotic translation initiation factor 4 gamma 1
MEM3
PARK17
VPS35, retromer complex component
D2S448
D2S448E
KIAA0230
MG50
PRG2
PXN
peroxidasin
RPC1
RPC155
hRPC155
RNA polymerase III subunit A
RPC2
RNA polymerase III subunit B
BTN6
BTNL11
myelin oligodendrocyte glycoprotein
MOZ-related factor
MOZ2
Morf
ZC2HC6B
qkf
querkopf
lysine acetyltransferase 6B
ST3Gal III
ST3 beta-galactoside alpha-2,3-sialyltransferase 3
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_955 with label: Acroosteolysis dominant type
Serpentine fibula-polycystic kidneys syndrome
GT198
HUMGT198A
Hop2
TBP-1 interacting protein
TBPIP
PSMC3 interacting protein
MIHG1
MIRH1
long intergenic non-protein coding RNA 48
miR-17-92
non-protein coding RNA 48
miR-17-92a-1 cluster host gene
FilGAP
Rho GTPase activating protein 24
CPLANE3
ciliogenesis and planar polarity effector 3
fuzzy planar cell polarity protein
Fibular hypoplasia or aplasia-femoral bowing-oligodactyly syndrome
Fuhrmann-Rieger-de Sousa syndrome
Fuhrmann syndrome is mainly characterized by bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly.
Fuhrmann syndrome
NY-REN-37
UKp68
zinc finger CCCH-type containing 14
DYF-2
IFT144
KIAA1638
NPHP13
ORF26
Oseg6
Pwdmp
intraflagellar transport 144 homolog (Chlamydomonas)
WD repeat domain 19
60S ribosomal protein L21
L21
ribosomal protein L21
UBA domain containing 2
XX gonodal dysgenesis-deafness syndrome
Perrault syndrome (PS) is characterized by the association of ovarian dysgenesis in females with sensorineural hearing impairment. In more recent PS reports, some authors have described neurologic abnormalities, notably progressive cerebellar ataxia and intellectual deficit.
Perrault syndrome
PMDS
Persistent Müllerian derivatives
Persistent Müllerian duct syndrome (PMDS) is a rare disorder of sex development (DSD) characterized by the persistence of Müllerian derivatives, the uterus and/or fallopian tubes, in otherwise normally virilized boys.
Persistent Müllerian duct syndrome
Disorder of folate metabolism and transport
CT78
cancer/testis antigen 78
testis specific protein Y-linked 1
Growth arrest-specific gene-1
growth arrest specific 1
EDS IV
EDS type 4
Ehlers-Danlos syndrome type 4
Ehlers-Danlos syndrome type IV
Sack-Barabas syndrome
Ehlers-Danlos syndrome type IV, also known as the vascular type of Ehlers-Danlos syndrome (EDS), is an inherited connective tissue disorder defined by characteristic facial features (acrogeria) in most patients, translucent skin with highly visible subcutaneous vessels on the trunk and lower back, easy bruising, and severe arterial, digestive and uterine complications, which are rarely, if at all, observed in the other forms of EDS.
Ehlers-Danlos syndrome, vascular type
use http://www.orpha.net/ORDO/Orphanet_68367 with label: Rare inborn errors of metabolism
OBSOLETE: Preeyasombat-Varavithya syndrome
use http://www.orpha.net/ORDO/Orphanet_98464 with label: X-linked syndromic intellectual disability
OBSOLETE: Short stature-microcephaly-heart defect syndrome
CD240D
DIIIc
Rh30a
Rh4
RhII
RhPI
Rh blood group D antigen
Stratton-Parker syndrome
Short stature-wormian bones-dextrocardia syndrome is a multiple congenital anomalies syndrome characterized by wormian bones, dextrocardia and short stature due to a growth hormone deficiency. Additional manifestations that have been reported include brachycamptodactyly, kidney hypoplasia, bilateral cryptorchidism, midshaft hypospadias, imperforate anus/anorectal agenesis, body asymmetry, mild developmental delay, hemimegalencephaly and facial dysmorphism (hypotelorism, downslanting palpebral fissures, low-set and posteriorly angulated ears, depressed nasal bridge, and microstomia).
Short stature-wormian bones-dextrocardia syndrome
OBSOLETE: Short stature-prognathism-short femoral necks syndrome
Al Gazali-Aziz-Salem syndrome
Short stature-webbed neck-heart disease syndrome is characterized by short stature, intellectual deficit, facial dysmorphism, short webbed neck, skin changes and congenital heart defects. It has been reported in four Arab Bedouin sibs born to consanguineous parents.
Short stature-webbed neck-heart disease syndrome
DENNL72
chromosome 9 open reading frame 72
Cav3.2
calcium voltage-gated channel subunit alpha1 H
acylglycerol kinase
DGCR1
DiGeorge critical region gene 1
TUP1
histone cell cycle regulator
CFHL
FHR1
complement factor H related 1
DOWN16
FHR-3
FHR3
HLF4
complement factor H related 3
Thong-Douglas-Ferrante syndrome
Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome is characterised by short stature, sensorineural deafness, mutism, facial dysmorphism and abnormal neutrophil chemotaxis (leading to recurrent infections).
Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome
FHR-5
FHR5
Factor H related protein 5
complement factor H related 5
Selenoprotein Z
TR3
TRXR2
Thioredoxin reductase beta
thioredoxin reductase 2
JBTS14
transmembrane protein 237
Kid
OBP-1
OBP-2
kinesin family member 22
phospholipase A2 group V
Mievis-Verellen-Dumoulin syndrome
This syndrome is characterised by short stature presenting in the neonatal period associated with osteochondrodysplastic lesions and facial dysmorphism.
Short stature, Brussels type
Short stature-valvular heart disease-characteristic facies syndrome is characterised by severe short stature with disproportionately short legs, small hands, clinodactyly, valvular heart disease and dysmorphism (ptosis, high-arched palate, abnormal dentition). It has been described in a mother and two daughters. This syndrome is probably transmitted as an autosomal dominant trait.
Short stature-valvular heart disease-characteristic facies syndrome
Hamartomatous intestinal polyposis
Polyps and spots syndrome
Peutz-Jeghers syndrome (PJS) is an inherited gastrointestinal disorder characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. PJS carries a considerably increased risk of GI and extra-GI malignancies.
Peutz-Jeghers syndrome
EDS, classic type
Ehlers-Danlos syndrome, classic type (cEDS) is a form of Ehlers-Danlos syndrome that affects the connective tissue and is characterized by skin hyperextensibility, widened atrophic scars and joint hypermobility.
Ehlers-Danlos syndrome, classic type
bone morphogenetic protein 1
Pfeiffer-Palm-Teller syndrome is a very rare dysmorphic syndrome described in two sibs and characterized by a short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice, cup-shaped ears, and narrow palpebral fissures with epicanthal folds, and intellectual deficit.
Pfeiffer-Palm-Teller syndrome
Craniosynostosis-congenital heart disease-intellectual disability syndrome
Pfeiffer-Singer-Zschiesche syndrome
Sagittal craniostenosis with congenital heart disease, mental deficiency and mandibular ankylosis
Pfeiffer-type cardiocranial syndrome is an extremely rare disorder recognized in less than ten patients worldwide and characterized by a congenital heart defect, sagittal craniosynostosis and severe developmental delay (growth retardation and intellectual deficit).
Cardiocranial syndrome, Pfeiffer type
Phakomatosis pigmentokeratotica (PPK) is a very rare epidermal nevus disorder characterized by the association of speckled lentiginous nevi with epidermal sebaceous nevi, and extracutaneous anomalies.
Phakomatosis pigmentokeratotica
Phakomatosis pigmentovascularis
ECAT1
ES cell associated transcript 1
KH domain containing 3 like, subcortical maternal complex member
Powell-Chandra-Saal syndrome
Phaver syndrome is a very rare syndrome characterized by the association of limb Pterygia, Heart anomalies, Autosomal recessive inheritance, Vertebral defects, Ear anomalies and Radial defects.
PHAVER syndrome
Stoll-Lévy-Francfort syndrome
Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome is characterised by phocomelia (involving arms more severely), ectrodactyly, ear anomalies (bilateral anomalies of the pinnae), conductive deafness, dysmorphism (long and prominent philtrum, mild maxillary hypoplasia) and sinus arrhythmia. It has been described in four patients (a father and his son and a mother and her daughter) from two unrelated families.
Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome
Al Awadi-Raas-Rothschild syndrome
Aplasia/hypoplasia of limbs and pelvis
Congenital absence of ulna and fibula
Severe limb deficit
Schinzel phocomelia syndrome, also called limb/pelvis hypoplasia/aplasia syndrome, is characterized by skeletal malformations affecting the ulnae, pelvic bones, fibulae and femora. As the phenotype is similar to that described in the malformation syndrome known as Al-Awadi/Raas-Rothschild syndrome, they are thought to be the same disorder.
Phocomelia, Schinzel type
Hereditary elliptocytosis (HE) is a rare clinically and genetically heterogeneous disorder of the red cell membrane characterized by manifestations ranging from mild to severe transfusion-dependent hemolytic anemia but with the majority of patients being asymptomatic.
Hereditary elliptocytosis
PEPCK deficiency
Phosphoenolpyruvate carboxykinase (PEPCK) deficiency is a gluconeogenesis disorder that results from impairment in the enzyme PEPCK, and comprising cytosolic (PEPCK1) and mitochondrial (PEPCK2) forms of enzyme deficiency. Onset of symptoms is neonatal or a few months after birth and includes hypoglycemia associated with acute episodes of severe lactic acidosis, progressive neurological deterioration, severe liver failure, renal tubular acidosis and Fanconi syndrome. Patients also present progressive multisystem damage with failure to thrive, muscular weakness and hypotonia, developmental delay with seizures, spasticity, lethargy, microcephaly and cardiomyopathy. To date, there is no conclusive evidence of the existence of an isolated form of this disorder.
Phosphoenolpyruvate carboxykinase deficiency
Cutaneous photosensitivity and lethal colitisis is a rare inflammatory bowel disease (see this term) characterized by early cutaneous photosensitivity manifesting by sun-induced facial erythematous and vesicular lesions and severe recurent colitis which lead to untreatable diarrhea. There have been no further descriptions in the literature since 1991.
Cutaneous photosensitivity-lethal colitis syndrome
Phytosterolemia
(2p21) genes.
Sitosterolemia
Piebaldism is a rare congenital pigmentation skin disorder characterized by the presence of hypopigmented and depigmented skin areas (leukoderma) on various parts of the body, preferentially on the forehead, chest, abdomen, upper arms, and lower extremities, that are associated with a white forelock (poliosis), and in some cases with hypopigmented and depigmented eyebrows and eyelashes.
Piebaldism
Telfer-Sugar-Jaeger syndrome
Piebald trait-neurologic defects syndrome is a rare, genetic, pigmentation anomaly of the skin syndrome characterized by ventral as well as dorsal leukoderma of the trunk and a congenital white forelock, in association with cerebellar ataxia, impaired motor coordination, intellectual disability of variable severity and progressive, mild to profound, uni- or bilateral sensorineural hearing loss. There have been no further descriptions in the literature since 1971.
Piebald trait-neurologic defects syndrome
Pierre Robin sequence-congenital heart defect-talipes syndrome
Pierre Robin syndrome-congenital heart defect-talipes syndrome
Talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome
TARP syndrome is a rare developmental defect during embryogenesis syndrome characterized by Robin sequence (micrognathia, glossoptosis, and cleft palate), atrial septal defect, persistence of the left superior vena cava, and talipes equinovarus. The phenotype is variable, some patients present with further dysmorphic characteristics (e.g. hypertelorism, ear abnormalities) while others do not have any key findings. Additional features, such as syndactyly, polydactyly, or brain anomalies (e.g. cerebellar hypoplasia), have also been reported. The syndrome is almost invariably lethal with affected males either dying prenatally or living just a few months.
TARP syndrome
Chitayat-Meunier-Hodgkinson syndrome
Pierre Robin sequence-faciodigital anomaly syndrome
This syndrome is characterised by the association of Pierre Robin sequence (retrognathia, cleft palate and glossoptosis) with facial dysmorphism (high forehead with frontal bossing) and digital anomalies (tapering fingers, hyperconvex nails, clinodactyly of the fifth fingers and short distal phalanges, finger-like thumbs and easily subluxated first metacarpophalangeal joints).Growth and mental development were normal.
Pierre Robin syndrome-faciodigital anomaly syndrome
Twisted hair
Pili torti is a hair shaft abnormality characterized by flat hair that is twisted at irregular intervals. Hair is normal at birth but progressively stops growing long and becomes fragile. Pili torti can be isolated or occur in association with syndromes such as Menkes disease or Bazex syndrome (see these terms).
Pili torti
D10S64
D10S65
D10S66
RP66
interstitial retinol-binding protein 3
retinol binding protein 3
BBS21
Bardet-Biedl syndrome 21
CORD16
RP64
cone-rod dystrophy 16
chromosome 8 open reading frame 37
Chondroectodermal dysplasia
Mesodermic dysplasia
Ellis-van Creveld syndrome (EVC) is a skeletal and ectoderlam dysplasia characterized by a tetrad of short stature, postaxial polydactyly, ectodermal dysplasia, and congenital heart defects.
Ellis Van Creveld syndrome
Pili torti-onychodysplasia is a form of ectodermal dysplasia characterised by dystrophy of the distal part of the nails and trichodysplasia. It has been described in only one family. Transmission is autosomal recessive.
Pili torti-onychodysplasia syndrome
C-terminal PDZ domain ligand of neuronal nitric oxide synthase
CAPON
KIAA0464
nitric oxide synthase 1 adaptor protein
Disorders of vitamin D metabolism
Pili torti-developmental delay-neurological abnormalities syndrome is characterized by growth and developmental delay, mild to moderate neurologic abnormalities, and pili torti. It has been described in a brother and his sister born to consanguineous Puerto Rican parents.
Pili torti-developmental delay-neurological abnormalities syndrome
Hypocalcemic rickets is a group of genetic diseases characterized by hypocalcemia and rickets. It comprises hypocalcemic vitamin D dependent rickets (VDDR-I) and hypocalcemic vitamin D resistant rickets (HVDRR) (see these terms).
Hypocalcemic rickets
1-alpha-hydroxylase deficiency
PDDRI
Pseudovitamin D-deficient rickets
VDDI
VDDR-I
Vitamin D dependent rickets type I
Vitamin D-dependency type I
Hypocalcemic vitamin D-dependent rickets (VDDR-I) is an early-onset hereditary vitamin D metabolism disorder characterized by severe hypocalcemia leading to osteomalacia and rachitic bone deformations, and moderate hypophosphatemia.
Hypocalcemic vitamin D-dependent rickets
ARHR
Autosomal recessive hypophosphatemic rickets (ARHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth.
Autosomal recessive hypophosphatemic rickets
Euhidrotic ectodermal dysplasia
Kopysc-Barczyk-Krol syndrome
Pilodental dysplasia-refractive errors syndrome is a rare ectodermal dysplasia syndrome characterized by dysplastic abnormalities of the hair and teeth (including hypodontia, abnormally shaped teeth, scalp hypotrichosis and pili annulati), follicular hyperkeratosis on the trunk and limbs, and hyperopia. Intensified delineation, reticular hyperpigmentation of the nape and astigmatism have also been reported. There have been no further descriptions in the literature since 1985.
Pilodental dysplasia-refractive errors syndrome
Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation is a rare intellectual disability and epilepsy syndrome characterized by global developmental delay and mild to profound intellectual disability, multiple types of usually intractable focal and generalized seizures with variable abnormal EEG findings, and bilateral progressive parenchymal volume loss and thin corpus callosum on brain MRI.
Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
GluN2A
glutamate ionotropic receptor NMDA type subunit 2A
ADK hypermethioninemia
Hypermethioninemia encephalopathy due to ADK deficiency
Hypermethioninemia encephalopathy due to adenosine kinase deficiency is a rare inborn error of metabolism disorder characterized by persistent hypermethioninemia with increased levels of S-adenosylmethionine and S-adenosylhomocysteine which manifests with encephalopathy, severe global developmental delay, mild to severe liver dysfunction, hypotonia and facial dysmorphism (most significant is frontal bossing, macrocephaly, hypertelorism and depressed nasal bridge). Epileptic seizures, hypoglycemia and/or cardiac defects (pulmonary stenosis, atrial and/or ventricular septal defect, coarctation of the aorta) may be associated. Clinical picture may range from neurological symptoms only to multi-organ involvement.
Hypermethioninemia encephalopathy due to adenosine kinase deficiency
Adenosine 5'-phosphotransferase
adenosine kinase
Developmental delay due to ALDH6A1 deficiency
Developmental delay due to MMSDH deficiency
Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency is a rare, genetic, inborn error of branched-chain amino acid metabolism disorder, with a highly variable clinical and biochemical phenotype, typically characterized by mild to severe global developmental delay, elevated methylmalonic acid and, occasionally, lactic acid plasma levels, and chronic methylmalonic aciduria, which may be accompanied by elevation of additional organic or amino acids in urine (e.g. beta-alanine, methionine, 3-hydroxypropionic, 3-aminoisobutyric and/or 3-hydroxyisobutyric acid). Microcephaly, mild craniofacial dysmorphism, axial hypotonia, liver failure, and central nervous system abnormalities on MRI have also been reported.
Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency
malonate-semialdehyde dehydrogenase (acetylating)
aldehyde dehydrogenase 6 family member A1
HAM/TSP
HTLV-1-associated myelopathy/tropical spastic paraparesis
Human T-lymphotropic virus type I-associated myelopathy/tropical spastic paraparesis
Human T-lymphotropic virus type-1-associated myelopathy/tropical spastic paraparesis
TSP
Tropical spastic paraparesis is a chronic systemic immune-mediated inflammatory myeloneuropathy, more frequently reported in women than in men, that usually presents in adulthood with slowly progressive spastic paraparesis of the lower limbs, bladder and bowel dysfunction, and sensory disturbances in the lower extremities (e.g. paresthesia and dysesthesia) and that is associated with a human T-cell lymphotropic virus type 1 (HTLV-1) infection.
Tropical spastic paraparesis
IDH
Infective dermatitis associated with human T-lymphotropic virus type 1
Infective dermatitis associated with human T-lymphotropic virus type I
infections, thought to be a result of HTLV-1-induced immunosuppression. Lymphadenopathy, anemia, mild to moderate pruritus and increased incidence of other infections (e.g. crusted scabies) have also been reported in some patients. Patients may subsequently develop other HTLV-1 associated conditions such as adult T-cell leukemia/lymphoma and tropical spastic paraparesis (see these terms).
Infective dermatitis associated with HTLV-1
NGCO
Primary non-gestational ovarian choriocarcinoma
Primary non-gestational choriocarcinoma of ovary is a rare ovarian germ cell malignant tumor (see this term), arising from primordial germ cells, usually presenting with nausea, vomiting, abdominal pain, menstrual irregularities, and characterized by fast growth pattern, metastasis to lung, liver and brain and production of human chorionic gonadotrophin (hCG). It is apparently chemoresistant and has a worse prognosis than gestational choriocarcinoma (see this term) and hence should be distinguished from the latter by DNA polymorphism.
Primary non-gestational choriocarcinoma of ovary
Non-CNS-localized embryonal carcinoma
Non-central nervous system-localized embryonal carcinoma
Familial VUR
Familial vesicoureteral reflux is a rare, non-syndromic urogenital tract malformation characterized by the familial occurrence of retrograde flow of urine from the bladder into the ureter and sometimes the kidneys. Patients may be asymptomatic or may present with recurrent, sometimes febrile, urinary tract infections that, in case of acute pyelonephritis, may lead to serious complications (renal scarring, hypertension, renal failure). Spontaneous resolution of the disorder is possible.
Familial vesicoureteral reflux
KIAA1568
roundabout guidance receptor 2
SRY-box 17
EOMFC
Salih myopathy
Early-onset myopathy with fatal cardiomyopathy
Congenital myosclerosis, Löwenthal type
Myosclerosis is a rare, genetic, non-dystrophic myopathy characterized by early, diffuse, progressive muscle and joint contractures that result in severe limitation of movement of axial, proximal, and distal joints, walking difficulties in early childhood and toe walking. Patients typically present thin, sclerotic muscles with a woody consistency, mild girdle and proximal limb weakness with moderate distal weakness and scoliosis. Muscle biopsy shows partial collagen VI deficiency at the myofiber basement membrane and absent collagen VI around most endomysial/perimysial capillaries.
Myosclerosis
Cancer diagnosed during pregnancy
Malignancy diagnosed during pregnancy
Primary Sjögren-Gougerot syndrome
Primary Sjögren syndrome
use http://www.orpha.net/ORDO/Orphanet_139039 with label: Orofacial clefting syndrome
Congenital absence of fingerprints
Immigration delay disease
Isolated congenital adermatoglyphia is a rare, genetic developmental defect during embryogenesis disorder characterized by the lack of epidermal ridges on the palms and soles, resulting in the absence of fingerprints, with no other associated manifestations. It is associated with a reduced number of sweat gland openings and reduced transpiration of palms and soles.
Isolated congenital adermatoglyphia
KIAA1122
SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1
PASH syndrome
Pyoderma gangrenosum-acne-suppurative hidradenitis syndrome
Intellectual disability-alacrima-achalasia syndrome is a rare, genetic intellectual disability syndrome characterized by delayed motor and cognitive development, absence or severe delay in speech development, intellectual disability, and alacrima. Achalasia/dysphagia and mild autonomic dysfunction (i.e. anisocoria) have also been reported in some patients. The phenotype is similar to the one observed in autosomal recessive Triple A syndrome, but differs by the presence of intellectual disability in all affected individuals.
Intellectual disability-alacrima-achalasia syndrome
MLAT4
procollagen-proline 3-dioxygenase 2
prolyl 3-hydroxylase 2
Pol III-related leukodystrophy
Hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism
CCMCO
Congenital cataract microcornea with corneal opacity
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_2510 with label: Micro syndrome
CMAMMA
Combined malonic and methylmalonic aciduria
Combined malonic and methylmalonic acidemia is a rare inborn error of metabolism characterized by elevation of malonic acid (MA) and methylmalonic acid (MMA) in body fluids, with higher levels of MMA than MA. CMAMMA presents in childhood with metabolic acidosis, developmental delay, dystonia and failure to thrive or in adulthood with seizures, memory loss and cognitive decline.
Combined malonic and methylmalonic acidemia
malonyl-CoA synthetase
acyl-CoA synthetase family member 3
Deletion 12q15q21.1
Monosomy 12q15q21.1
12q15q21.1 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 12, with a highly variable phenotype, typically characterized by developmental delay, learning disability, intra-uterine and postnatal growth retardation, and mild facial dysmorphism that changes with age. Nasal speech and hypothyroidism are also associated.
12q15q21.1 microdeletion syndrome
Tetrasomy 11q24.1
Microtriplication 11q24.1 is an extremely rare partial autosomal tetrasomy, resulting from a partial triplication of the long arm of chromosome 11, characterized by intellectual disability (with severe verbal impairment), short stature with small extremities, keratoconus and distinctive facial features (round, course face, upward slanting palpebral fissures, mild synophris, large nose with thick ala nasi and triangular tip, large mouth with broad lips, short and smooth philtrum, large protruded chin, ears with adherent lobules). Additionally, patients are overweight and present hypercholesterolemia.
Microtriplication 11q24.1
Fatal infantile HCM due to mitochondrial complex I deficiency
Fatal infantile hypertrophic cardiomyopathy due to NADH-CoQ reductase deficiency
Fatal infantile hypertrophic cardiomyopathy due to NADH-coenzyme Q reductase deficiency
Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency
CGI-65
CIA30
NADH:ubiquinone oxidoreductase complex assembly factor 1
Tumor susceptibility linked to germline BAP1 mutations
BAP1-related tumor predisposition syndrome (TPDS) is an inherited cancer-predisposing syndrome, associated with germline mutations in BAP1 tumor suppressor gene. The most commonly observed cancer types include uveal melanoma, malignant mesothelioma, renal cell carcinoma, lung, ovarian, pancreatic, breast cancer and meningioma, with variable age of onset. Common cutaneous manifestations include malignant melanoma, basal cell carcinoma and benign melanocytic BAP1-mutated atypical intradermal tumors (MBAIT) presenting as multiple skin-coloured to reddish-brown dome-shaped to pedunculated, well-circumscribed papules with an average size of 5 mm, histologically predominantly composed of epithelioid melanocytes with abundant amphophilic cytoplasm, prominent nucleoli and large, vesicular nuclei that vary substantially in size and shape.
BAP1-related tumor predisposition syndrome
KIAA0272
UCHL2
hucep-6
ubiquitin carboxy-terminal hydrolase
BRCA1 associated protein 1
Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency is a rare, genetic, chronic, primary adrenal insufficiency disorder, due to partial loss-of-function CYP11A1 mutations, characterized by early-onset adrenal insufficiency without associated abnormal external male genitalia. Patients present with signs of adrenal crisis, including electrolite abnormalities, severe weakness, recurrent vomiting and seizures. Ultrasound reveals absent (or very small) adrenal glands.
Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
#64258;at nares, Cupid's bow upper lip vermilion, and small, low-set, posteriorly rotated ears), in addition to cleft palate, conductive hearing loss, heart defects (atrial or ventricular septal defect) and mild developmental delay/intellectual disability.
Dysmorphism-conductive hearing loss-heart defect syndrome
MPAN
NBIA due to C19orf12 mutation
NBIA4
Neurodegeneration with brain iron accumulation due to C19orf12 mutation
Neurodegeneration with brain iron accumulation type 4
Mitochondrial membrane protein-sssociated neurodegeneration (MPAN), also known as neurogeneration with brain iron accumulation (NBIA) due to C19orf12 mutations, is an autosomal recessive neurodegenerative disorder characterized by iron accumulation in specific regions of the brain, usually the basal ganglia, and associated with slowly progressive pyramidal (spasticity) and extrapyramidal (dystonia) signs, motor axonal neuropathy, optic atrophy, cognitive decline, and neuropsychiatric abnormalities.
Mitochondrial membrane protein-associated neurodegeneration
membrane protein-associated neurodegeneration
neurodegeneration with brain iron accumulation 4
chromosome 19 open reading frame 12
Multiple mitochondrial dysfunctions syndrome describes a group of rare inborn errors of energy metabolism due to defects in mitochondrial [4Fe-4S] protein assembly. Patients present with a neonatal/infancy onset of metabolic lactic acidosis (that may be associated with hyperglycinemia and other abnormal metabolic testing results), muscular hypotonia, absence of psychomotor development or developmental regression, as well as abnormal neuroimaging findings (including leukodystrophy, brain developmental defects, white matter abnormalities, cerebral atrophy), and other variable clinical features (e.g., optic atrophy, cardiomyopathy, pulmonary hypertension, seizures, and dysmorphic features). Early fatal outcome is usual.
Multiple mitochondrial dysfunctions syndrome
CGI-33
NIFUC
NifU
NFU1 iron-sulfur cluster scaffold
bolA family member 3
Autosomal recessive exfoliative ichthyosis
Ichthyosis exfoliativa
Exfoliative ichthyosis is an inherited, non-syndromic, congenital ichthyosis disorder characterized by the infancy-onset of palmoplantar peeling of the skin (aggravated by exposure to water and by occlusion) associated with dry, scaly skin over most of the body. Pruritus and hypohidrosis may also be associated. Well-demarcated areas of denuded skin appear in moist and traumatized regions and skin biopsies reveal reduced cell-cell adhesion in the basal and suprabasal layers, prominent intercellular edema, numerous aggregates of keratin filaments in basal keratinocytes, attenuated cornified cell envelopes, and epidermal barrier impairment.
Exfoliative ichthyosis
stefin A
cystatin A
JNA
Juvenile nasopharyngeal angiofibroma (JNA) is a rare and benign but locally aggressive fibrovascular tumor arising from the posterolateral wall of the nasopharynx, which affects mainly young and adolescent males (onset usually occurring between 7-19 years of age) and that presents as a mass in the nasopharynx and nasal cavity, leading to manifestations such as nasal obstruction, epistaxis, profound facial swelling, proptosis or diplopia. Although slowly progressive, it has a high rate of recurrence and sometimes invades adjacent structures.
Juvenile nasopharyngeal angiofibroma
Pitt-Hopkins syndrome (PHS) is characterized by the association of intellectual deficit, characteristic facial dysmorphism and problems of abnormal and irregular breathing.
Pitt-Hopkins syndrome
CALJA
Calcification of joints and arteries
Hereditary arterial and articular multiple calcification syndrome is a very rare genetic vascular disease of autosomal recessive inheritance, described in less than 20 patients to date, characterized by adult-onset (as early as the second decade of life) isolated calcification of the arteries of the lower extremities (including the iliac, femoral, and tibial arteries) as well as the capsule joints of the fingers, wrists, ankles and feet, and that usually manifests with mild paresthesias of the lower extremities, intense joint pain and swelling, and early onset arthritis of affected joints.
Hereditary arterial and articular multiple calcification syndrome
CD73
eNT
5'-nucleotidase ecto
Rare virus associated tumor
EBV-related tumor
Epstein-Barr Virus-related tumor
EBV-associated lymphoproliferative disorder
Epstein-Barr virus-associated malignant lymphoproliferative disorder
EBV-associated carcinoma
Epstein-Barr Virus-associated carcinoma
EBV-associated mesenchymal tumor
Epstein-Barr Virus-associated mesenchymal tumor
EBV-positive DLBCL of the elderly
Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly is a rare form of diffuse large B-cell lymphoma occurring most commonly in patients over the age of 50 (usually between 70-75 years of age), without overt immunodeficiency, and presenting with nodal and extranodal involvement (in sites such as the stomach, lung, skin and pancreas) and B symptoms (fever, night sweats, weight loss). The tumor is characterized by an aggressive course and a short survival rate.
Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly
PBL
Plasmablastic lymphoma
Lymphoepithelial-like carcinoma is a rare, malignant epithelial tumor, composed of undifferentiated epithelial cells with dense lymphoid stroma, mimicking lymphoepithelioma. It often shows association with Epstein-Barr virus infection and can develop in various organs, such as the nasopharynx, stomach, skin, breast and lungs, among others. The presenting symptoms, as well as the radiologic features, are usually nonspecific and depend on the affected site and organ.
Lymphoepithelial-like carcinoma
Myopericytoma
Pityriasis rubra pilaris is a rare chronic papulosquamous disorder of unknown etiology characterized by small follicular papules, scaly red-orange patches, and palmoplantar hyperkeratosis, which may progress to plaques or erythroderma. Although most of the cases are sporadic and acquired, a familial form of the disease exists.
Pityriasis rubra pilaris
Hyde Forster-McCarthy-Berry syndrome
X-linked intellectual disability-plagiocephaly syndrome is characterised by severe intellectual deficit, brachycephaly, plagiocephaly, prominent forehead and coarse facial features. It has been described in two males from one family. Two females belonging to the same family displayed moderate intellectual deficit but no craniofacial dysmorphism.
X-linked intellectual disability-plagiocephaly syndrome
use http://www.orpha.net/ORDO/Orphanet_90186 with label: Meige disease
Disorder of tryptophan metabolism
Disorder of lysine and hydroxylysine metabolism
Disorder of glutamine metabolism
Glutathione synthetase deficiency with 5-oxoprolinuria
Glutathione synthetase deficiency without 5-oxoprolinuria
Classic glycine encephalopathy
Neonatal NKH
Neonatal non-ketotic hyperglycinemia
Neonatal glycine encephalopathy is a frequent, usually severe form of glycine encephalopathy (GE; see this term) characterized by coma, apnea, hypotonia, seizure and myoclonic jerks in the neonatal period, and subsequent developmental delay.
Neonatal glycine encephalopathy
Infantile NKH
Infantile non-ketotic hyperglycinemia
Infantile glycine encephalopathy is a mild to severe form of glycine encephalopathy (GE; see this term), characterized by early hypotonia, developmental delay and seizures.
Infantile glycine encephalopathy
Atypical NKA
Atypical non-ketotic hyperglycinemia
Atypical glycine encephalopathy is a rare form of glycine encephalopathy (GE; see this term) presenting disease onset or clinical manifestations that differ from neonatal or infantile GE.
Atypical glycine encephalopathy
Disorder of proline metabolism
Disorder of ornithine metabolism
Transient hyperammonemia of the newborn
Glycine N-methyltransferase deficiency
Hypermethioninemia due to GNMT deficiency
Hypermethioninemia due to glycine N-methyltransferase deficiency is a rare, genetic inborn error of metabolism characterized by a relatively benign clinical phenotype, with only mild to moderate hepatomegaly reported, in addition to laboratory studies revealing permanent, greatly increased hypermethioninemia, mild to moderate elevation of aminotransferases and highly elevated plasma S-adenosyl-methionine with normal S-adenosylhomocysteine and total homocysteine.
Hypermethioninemia due to glycine N-methyltransferase deficiency
glycine N-methyltransferase
Organic aciduria
Platyspondyly-amelogenesis imperfecta syndrome
Verloes-Bourguignon syndrome
Autosomal recessive brachyolmia-amelogenesis imperfecta syndrome is an exceedingly rare form of brachyolmia (see this term), characterized by mild platyspondyly, broad ilia, elongated femoral necks with coxa valga, scoliosis, and short trunked short stature associated with amelogenesis imperfecta (see this term) of both primary and permanent dentition.
Brachyolmia-amelogenesis imperfecta syndrome
3-methylglutaconic aciduria
Complete deficiency of methylmalonyl-CoA mutase
Vitamin B12-unresponsive methylmalonic aciduria type mut0
Vitamin B12-unresponsive methylmalonic acidemia type mut0 is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12.
Vitamin B12-unresponsive methylmalonic acidemia type mut0
Complete mevalonate kinase deficiency
MVA
Mevalonic aciduria (MVA) is a rare, very severe form of mevalonate kinase deficiency (MKD; see this term) characterized by dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes.
Mevalonic aciduria
CRS
Fetal rubella syndrome
Mother-to-child transmission of rubella syndrome
Congenital rubella syndrome (CRS) is an infectious embryofetopathy that may present in an infant as a result of maternal infection and subsequent fetal infection with rubella virus. CRS can lead to deafness, cataract, and variety of other permanent manifestations including cardiac and neurological defects.
Congenital rubella syndrome
Leri pleonosteosis is characterized by broadening and deformity of the thumbs and great toes in a valgus position (a 'spade-shaped' appearance), flexion contracture of the interphalangeal joints, generalized limitation of joint mobility, short stature, and often mongoloid facies. Additional malformations include genu recurvatum, enlargement of the posterior neural arches of the cervical vertebrae, and thickening of the palmar and forearm fasciae. A few multigenerational families have been reported so far. The disease is inherited in an autosomal dominant manner.
Leri pleonosteosis
Acute brachial plexus neuritis
Brachial plexus neuritis
Immune brachial plexus neuropathy
Mononeuritis multiplex with brachial predilection
Neuralgic shoulder amyotrophy
Neuralgic amyotrophy (NA) is an uncommon disorder of the peripheral nervous system characterized by the sudden onset of extreme pain in the upper extremity followed by rapid multifocal motor weakness and atrophy and a slow recovery in months to years. NA includes both an idiopathic (INA, also known as Parsonage-Turner syndrome) and hereditary (HNA) form.
Neuralgic amyotrophy
CMPX1
MRX97
ZNF4
ZNF5
Zfp711
zinc finger protein 711
Chronic eosinophilic pneumonia
Idiopathic chronic eosinophilic pneumonia (ICEP) is a very rare, severe, interstitial lung disease of insidious onset with subacute or chronic non-specific respiratory manifestations (dyspnea, cough, wheezing) often associated with systemic manifestations (fatigue, malaise, weight loss).
Idiopathic chronic eosinophilic pneumonia
RPD3
histone deacetylase 8
Familial spontaneous pneumothorax is a rare, genetic pulmonary disease characterized by the uni- or bilateral accumulation of air in the pleural cavity in persons with a positive family history and no underlying lung disease or previous chest trauma. Patients typically present dyspnea associated with acute onset of sharp and steady pleutiric chest pain of variable severity (which resolves within 24h even though pneumothorax is still present). Reflex tachycardia and/or respiratory or circulatory compromise may be observed. Other syndromes (e.g. Birt-Hogg-Dube, Marfan or Ehlers-Danlos syndromes) may be associated.
Familial spontaneous pneumothorax
bHLHd4
bHLHd5
bHLHd6
bHLHd7
bHLHd8
MYC associated factor X
Crow-Fukase syndrome
Osteosclerotic myeloma
PEP syndrome
Polyneuropathy-endocrinopathy-plasma cell dyscrasia syndrome
Takatsuki syndrome
POEMS syndrome is a paraneoplastic syndrome characterized by polyradiculoneuropathy (P), organomegaly (O), endocrinopathy (E), clonal plasma cell disorder (M), and skin changes (S). Other features include papilledema, extravascular volume overload, sclerotic bone lesions, thrombocytosis/erythrocytosis, and elevated VEGF levels.
POEMS syndrome
lysine demethylase 6A
Congenital poikiloderma with bullae, Weary type
Hereditary acrokeratotic poikiloderma, Weary type
Familial pheochromocytoma-paraganglioma
Hereditary paraganglioma-pheochromocytomas (PGL/PCC) are rare neuroendocrine tumors represented by paragangliomas (occurring in any paraganglia from the skull base to the pelvic floor) and pheochromocytomas (adrenal medullary paragangliomas; see this term).
Hereditary pheochromocytoma-paraganglioma
Kahler's disease
Medullary plasmacytoma
Myelomatosis
Plasma cell myeloma
Multiple myeloma (MM) is a malignant tumor of plasma cell characterized by overproduction of abnormal plasma cells in the bone marrow and skeletal destruction. The clinical features are bone pain, renal impairment, immunodeficiency, anemia and presence of abnormal immunoglobulins (Ig).
Multiple myeloma
Poikiloderma of Kindler
Kindler syndrome (KS) is the fourth major type of epidermolysis bullosa (EB), besides simplex, junctional and dystrophic forms, and is characterized by skin fragility and blistering at birth followed by development of photosensitivity and progressive poikilodermatous skin changes.
Kindler syndrome
Systemic disease with skin involvement
Autoinflammatory syndrome with immune deficiency
Autoinflammatory syndrome with skin involvement
Rare head and neck tumor
Poikiloderma of Rothmund-Thomson
Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature due to pre- and postnatal growth delay, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defects, premature aging and a predisposition to certain cancers.
Rothmund-Thomson syndrome
Antenatal varicella virus infection
Mother-to-child transmission of varicella syndrome
Fetal varicella syndrome (CVS) is an acquired developmental anomaly syndrome characterized by skin, neurological, ocular, limbs and growth defects secondary to maternal Varicella-Zoster Virus (VZV) infection.
Congenital varicella syndrome
Poland anomaly
Poland sequence
Poland syndrome is marked by a unilateral absence or hypoplasia of the pectoralis major muscle (most frequently involving the sternocostal portion), and a variable degree of ipsilateral hand anomalies, including symbrachydactyly.
Poland syndrome
Poliomyelitis is a viral infection caused by any of three serotypes of human poliovirus, which is part of the family of enteroviruses.
Poliomyelitis
Non-syndromic polydactyly
SR-BP1
sigma non-opioid intracellular receptor 1
Postaxial polydactyly-dental and vertebral anomalies syndrome is a rare, genetic, developmental defect during embryogenesis syndrome characterized by postaxial polydactyly and other abnormalities of the hands and feet (e.g. brachydactyly, broad toes), hypoplasia and fusion of the vertebral bodies, as well as dental abnormalities (fused teeth, macrodontia, hypodontia, short roots). There have been no further descriptions in the literature since 1977.
Postaxial polydactyly-dental and vertebral anomalies syndrome
Czeizel-Brooser syndrome
Polydactyly-myopia syndrome is an exceedingly rare autosomal dominant developmental anomaly reported in 1986 in nine individuals among four generations of the same family. The syndrome is characterized clinically by four-limb postaxial polydactyly and progressive myopia. There have been no further descriptions in the literature since 1986.
Polydactyly-myopia syndrome
DSPB3
EKD1
FICCA
IFITMD1
Interferon induced transmembrane protein domain containing 1
PKC
dispanin subfamily B member 3
proline rich transmembrane protein 2
CI-39k
Complex I 39kDa subunit
SDR22E1
Short chain dehydrogenase/reductase family 22E, member 1
NADH:ubiquinone oxidoreductase subunit A9
distal-less homeobox 5
ATP-binding cassette half-transporter
MTABC3
umat
ATP binding cassette subfamily B member 6 (Langereis blood group)
ANKK2
DIK
PKC-delta-interacting protein kinase
PKK
Protein kinase C-associated kinase
RIP4
receptor interacting serine/threonine kinase 4
Canstatin
Collagen type IV alpha 2
collagen type IV alpha 2 chain
ENX-1
EZH1
KMT6
KMT6A
enhancer of zeste 2 polycomb repressive complex 2 subunit
OATP2A1
PGT
solute carrier organic anion transporter family member 2A1
COX14, cytochrome c oxidase assembly factor
GATA binding protein 6
DNAS1L3
DNase gamma
LSD
deoxyribonuclease 1 like 3
OFD5
Oral-facial-digital syndrome type 5
Orofaciodigital syndrome, Thurston type
Polydactyly postaxial with median cleft of upper lip
Thurston syndrome
Oral-facial-digital syndrome, type 5 is characterized by median cleft of the upper lip, postaxial polydactyly of hands and feet, and oral manifestations (duplicated frenulum).
Orofaciodigital syndrome type 5
BTL-II
BTN7
HSBLMHC1
butyrophilin like 2
Antenatal enterovirus infection
Mother-to-child transmission of enterovirus infection
Congenital viral infections with enteroviruses (EV) including coxsackie viruses and ECHO viruses is an infectious embryofetopathy that have been reported to cause spontaneous abortion, stillbirth, fetal malformations and acute systemic illness in the newborn.
Congenital enterovirus infection
Postaxial polydactyly-intellectual disability syndrome
Oliver syndrome is a very rare syndrome characterized by intellectual deficit, postaxial polydactyly, and epilepsy.
Oliver syndrome
B22
Complex I B22 subunit
LYRM3
UQOR22
NADH:ubiquinone oxidoreductase subunit B9
BHLHF42
Fingerin
bHLHa9
basic helix-loop-helix family member a9
homeobox B13
Arthritis urethritica
Fiessinger-Leroy disease
Fiessinger-Leroy-Reiter syndrome
Polyarthritis enterica
Reiter disease
Reiter syndrome
Venereal arthritis
Reactive arthritis (ReA) is an autoimmune disorder belonging to the group of seronegative spondyloarthropathies and is characterized by the classic triad of arthritis, urethritis and conjunctivitis.
Reactive arthritis
NY-CO-33
TSH1
teashirt zinc finger homeobox 1
KIAA1780
multiple EGF like domains 10
Pfeiffer-Mayer syndrome
Preaxial polydactyly-colobomata-intellectual disability syndrome is characterised by growth retardation, intellectual deficit, preaxial polydactyly and colobomatous anomalies. It has been described in one pair of sibs (brother and sister). The mode of transmission is thought to be autosomal recessive.
Preaxial polydactyly-colobomata-intellectual disability syndrome
centrosomal protein 63
AR7
ERBA
NR1A1
THRA3
thyroid hormone receptor alpha
BicC family RNA binding protein 1
BABP
DD2
HAKRD
MCDR2
dihydrodiol dehydrogenase 2; bile acid binding protein; 3-alpha hydroxysteroid dehydrogenase, type III
aldo-keto reductase family 1 member C2
3-alpha-HSD
C11
DD4
HAKRA
chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4
aldo-keto reductase family 1 member C4
BRM
SNF2LA
Sth1p
brahma homolog
hBRM
hSNF2a
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
DOMO1
Domino homolog 1 (Drosophila)
EAF1
KIAA0309
SWR1
Swi2/Snf2-related ATPase homolog (S. cerevisiae)
Snf2 related CREBBP activator protein
B12
Complex I B12 subunit
NADH:ubiquinone oxidoreductase subunit B3
CHL
NRLN1
chordin like 1
CSNB1E
G protein-coupled receptor 179
RHBDL5
TOCG
iRhom2
rhomboid 5 homolog 2
ADPCLD
Autosomal dominant polycystic liver disease
PCLD
Isolated polycystic liver disease (PCLD) is a genetic disorder characterized by the appearance of numerous cysts spread throughout the liver and that in most cases is described as autosomal dominant polycystic liver disease (ADPCLD).
Isolated polycystic liver disease
Eg5
HKSP
TRIP5
kinesin family member 11
SNRNP116
Snrp116
Snu114
U5 snRNP specific protein, 116 kD
U5-116KD
elongation factor Tu GTP binding domain containing 2
PRVTIRB
TICAM-1
TIR domain-containing adapter molecule 1
TRIF
toll like receptor adaptor molecule 1
CAP-1
CD40bp
CRAF1
LAP1
RNF118
TNF receptor associated factor 3
OATP1B3
OATP8
solute carrier organic anion transporter family member 1B3
WIP
WAS/WASL interacting protein family member 1
use http://www.orpha.net/ORDO/Orphanet_35981 with label: Polymicrogyria
OBSOLETE: Polymicrogyria-turricephaly-hypogenitalism syndrome
Congenital aplasia of the extensor muscles of the fingers and thumb associated with generalized polyneuropathy
Hamanishi-Ueba-Tsuji syndrome
Polyneuropathy-hand defect syndrome
Digital extensor muscle aplasia-polyneuropathy is a rare, hereditary motor and sensory neuropathy characterized by flexion deformities of the thumb and fingers, sensory deficit in the hand and polyneuropathic electrophysiologic findings in the limbs. Operation on the hands reveals extensor muscles and their tendons to be absent or hypoplastic. There have been no further descriptions in the literature since 1986.
Digital extensor muscle aplasia-polyneuropathy
kisspeptin
prepro-kisspeptin
KiSS-1 metastasis suppressor
COM1
CTBP-interacting protein
CtIP
RB binding protein 8, endonuclease
Lundberg syndrome
Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome is a rare genetic syndromic intellectual disability characterized by intellectual disability, polyneuropathy, short stature and short limbs, brachydactyly, and premature ovarian insufficiency. Only one familial case with three affected females was described and there have been no further descriptions in the literature since 1971.
Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome
JIP
JPS
Juvenile gastrointestinal polyposis
Juvenile intestinal polyposis
Juvenile gastrointestinal polyposis (JIP) is a rare condition characterized by the presence of juvenile hamartomatous polyps in the gastrointestinal (GI) tract.
Juvenile polyposis syndrome
HSPC196
JBTS16
transmembrane protein 138
JBTS15
centrosomal protein 41
Antenatal herpes simplex virus infection
Mother-to-child transmission of herpes simplex virus infection
Congenital herpes virus infection is a group of anomalies that an infant may present as a result of maternal infection and subsequent foetal infection with herpes virus. This virus causes recurrent cutaneous infections in adults, often involving the lips or the genitalia. Herpes infections in other organs, such as the liver or central nervous system, are less frequent.
Congenital herpes simplex virus infection
Gastrointestinal polyposis-ectodermal changes syndrome
Gastrointestinal polyposis-skin pigmentation-alopecia-fingernail changes syndrome
Cronkhite-Canada syndrome (CCS) is a rare gastrointestinal (GI) polyposis syndrome characterized by the association of non-hereditary GI polyposis with the cutaneous triad of alopecia, nail changes and hyperpigmentation.
Cronkhite-Canada syndrome
DIS3 like 3'-5' exoribonuclease 2
Glvr-2
PiT-2
Ram-1
solute carrier family 20 member 2
ACAM
ASAM
Adipocyte adhesion molecule
Adipocyte-specific adhesion molecule
Coxsackie- and adenovirus receptor-like membrane protein
CXADR like membrane protein
BP240
BPA
CATX-15
KIAA0728
MACF2
dystonin
Stargazin
calcium voltage-gated channel auxiliary subunit gamma 2
KIAA0338
erythrocyte membrane protein band 4.1 like 1
BAF250b
DAN15
ELD/OSA1
KIAA1235
p250R
AT-rich interaction domain 1B
BAF250
BAF250a
C10rf4
AT-rich interaction domain 1A
thromboxane A2 receptor
Hereditary clubfoot due to 5q31 microdeletion
Familial clubfoot due to 5q31 microdeletion
Hereditary clubfoot due to PITX1 point mutation
Familial clubfoot due to PITX1 point mutation
Skin fragility-woolly hair-palmoplantar hyperkeratosis syndrome
Skin fragility-woolly hair-palmoplantar keratoderma syndrome is a rare, genetic, ectodermal dysplasia syndrome characterized by persistent skin fragility which manifests with blistering and erosions due to minimal trauma, woolly hair with variable alopecia, hyperkeratotic nail dysplasia, diffuse or focal palmoplantar keratoderma with painful fissuring, and no cardiac abnormalities. Perioral hyperkeratosis may also be associated.
Skin fragility-woolly hair-palmoplantar keratoderma syndrome
IAHSP
Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a very rare motor neuron disease characterized by severe spasticity of the lower limbs in early life, progression of spasticity to the upper limbs in late childhood, and dysarthria.
Infantile-onset ascending hereditary spastic paralysis
AGEP
Pustular drug eruption
Toxic pustuloderma
Acute generalized exanthematous pustulosis
MMPEI
MMPSI
MPEI
MPSI
Malignant migrating partial epilepsy of infancy
Migrating partial epilepsy of infancy
Migrating partial seizures of infancy
Malignant migrating partial seizures of infancy
use http://www.orpha.net/ORDO/Orphanet_2023 with label: Undifferentiated pleomorphic sarcoma
OBSOLETE: Pleomorphic undifferentiated sarcoma
Pleomorphic rhabdomyosarcoma
CIDP
Chronic inflammatory demyelinating polyradiculoneuropathy
Chronic inflammatory demyelinating polyneuropathy (CIDP) is a chronic monophasic, progressive or relapsing symmetric sensorimotor disorder characterized by progressive muscular weakness with impaired sensation, absent or diminished tendon reflexes and elevated cerebrospinal fluid (CSF) proteins.
Chronic inflammatory demyelinating polyneuropathy
Epithelioid sarcoma is a rare, soft tissue tumor characterized by high incidence of local recurrence, regional lymph node involvement and distant metastases. It commonly affects the soft tissue under the skin of a finger, hand, forearm, lower leg or foot, less often other areas of the body.
Epithelioid sarcoma
Dunbar syndrome
MALS
Median arcuate ligament syndrome
Celiac artery compression syndrome
BH4-responsive HPA/PKU
BH4-responsive hyperphenylalaninemia/phenylketonuria
Tetrahydrobiopterin-responsive HPA/PKU
Tetrahydrobiopterin-responsive hyperphenylalaninemia/ phenylketonuria (BH4-responsive hyperphenylalaninemia/ phenylketonuria) is a form of phenylketonuria (PKU, see this term), an inborn error of amino acid metabolism, characterized by mild to moderate symptoms of PKU including impaired cognitive function, seizures, and behavioral and developmental disorders, and a marked reduction and normalization of elevated phenylalanine concentrations after oral loading with tetrahydrobiopterin (BH4; sapropterin dihydrochloride), an essential cofactor of phenylalanine hydroxylase.
Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria
CAP20
CIP1
P21
SDI1
WAF1
p21CIP1
cyclin dependent kinase inhibitor 1A
INK4B
MTS2
P15
TP15
p15INK4b
cyclin dependent kinase inhibitor 2B
INK4C
p18
cyclin dependent kinase inhibitor 2C
SH2-B homolog
SH2B
SH2B adaptor protein 1
Mdm38 homolog (yeast)
SLC55A1
leucine zipper and EF-hand containing transmembrane protein 1
Methylmalonic aciduria without homocystinuria
Methylmalonic acidemia is an inborn error of vitamin B12 metabolism characterized by gastrointestinal and neurometabolic manifestations resulting from decreased function of the mitochondrial enzyme methylmalonyl-CoA mutase.
Methylmalonic acidemia without homocystinuria
GWCD
Grayson-Wilbrandt corneal dystrophy (GWCD) is an extremely rare form of corneal dystrophy characterized by variable patterns of opacification in the Bowman layer of the cornea which extend anteriorly into the epithelium with decreased to normal visual acuity.
Grayson-Wilbrandt corneal dystrophy
Dystrophia Helsinglandica
Dystrophia Smolandiensis
ERED
Recurrent hereditary corneal erosions
Epithelial recurrent erosion dystrophy (ERED) is a rare form of superficial corneal dystrophy (see this term) characterized by recurrent episodes of epithelial erosions from childhood in the absence of associated diseases, with occasional impairment of vision.
Epithelial recurrent erosion dystrophy
Bonneau syndrome
facial dysmorphism, hepatic cysts).
Polysyndactyly-cardiac malformation syndrome
PDCD
Pre-Descemet corneal dystrophy (PDCD) is a rare form of stromal corneal dystrophy characterized by focal, fine, gray opacities in the deep stroma immediately anterior to the Descemet membrane, with no effect on vision.
Pre-Descemet corneal dystrophy
Crossed polysyndactyly is a rare, genetic, congenital limb malformation disorder characterized by unilateral or bilateral postaxial polydactyly in the hands and preaxial polydactyly in the feet, associated with bilateral cutaneous syndactyly of first, second and third toes. Cutaneous syndactyly in hands has also been reported in some patients. There have been no further descriptions in the literature since 1994.
Crossed polysyndactyly
Autosomal recessive CHED
Autosomal recessive congenital hereditary endothelial dystrophy
CHED2
CHEDII
Congenital hereditary endothelial dystrophy type 2
Infantile hereditary endothelial dystrophy
Maumenee corneal dystrophy
Congenital hereditary endothelial dystrophy II (CHED II) is a rare subtype of posterior corneal dystrophy (see this term) characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth with nystagmus, and blurred vision.
Congenital hereditary endothelial dystrophy type II
XECD
X-linked endothelial corneal dystrophy (XECD) is a rare subtype of posterior corneal dystrophy (see this term) characterized by congenital ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients.
X-linked endothelial corneal dystrophy
PYCR1 deficiency
Pyrroline-5-carboxylate reductase 1 deficiency
PYCR1-related De Barsy syndrome
BMRS
Blepharophimosis-intellectual disability syndrome
BMRS, MKB type
BMRS, Maat-Kievit-Brunner type
Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type
X-linked Ohdo syndrome
Blepharophimosis-intellectual disability syndrome, MKB type
BMRS type V
BMRS, Verloes type
Blepharophimosis-intellectual disability syndrome type V
Blepharophimosis-intellectual disability syndrome, Verloes type is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly, severe epilepsy with hypsarrhythmia, adducted thumbs, abnormal genitalia, and normal thyroid function. Hypotonia, moderate to severe psychomotor delay, and characteristic facial dysmorphism (including round face with prominent cheeks, blepharophimosis, large, bulbous nose with wide alae nasi, posteriorly rotated ears with dysplastic conchae, narrow mouth, cleft palate, and mild micrognathia) are additional characteristic features.
Blepharophimosis-intellectual disability syndrome, Verloes type
Ketamine-induced biliary dilatation is an acquired biliary tract disease caused by the abusive consumption of ketamine, which results in the fusiform dilatation of the common bile ducts (CBD) without obstructive lesions or dilatation of the intrahepatic biliary ducts. Possible manifestations of the underlying cholangiopathy include epigastric pain and impaired liver function. Severity of CBD dilatation appears to correlate with the duration of ketamine consumption and the condition has been reported to be reversible in abstinent patients.
Ketamine-induced biliary dilatation
Fixed drug eruption is a rare toxic dermatosis disorder characterized by the appearance of a drug-induced rash which typically manifests with small (diameter less than 8 cm), erythematous, round, sometimes painful, plaques that result in long-lasting pigmentation and which recurr (usually at the same site) upon reexposure to the causative medication.
Fixed drug eruption
Toxic dermatosis
MITF-related melanoma and renal cell carcinoma predisposition syndrome is an inherited cancer-predisposing syndrome due to a gain-of-function germline mutation in the MITF gene, associated with a higher incidence of amelanotic and nodular melanoma, multiple primary melanomas and increase in nevus number and size. It may also predispose to co-occurring melanoma and renal cell carcinoma and to pancreatic cancer.
MITF-related melanoma and renal cell carcinoma predisposition syndrome
CDA IV
CDA due to KLF1 mutation
CDA type 4
CDA type IV
CDAN4
Congenital dyserythropoietic anemia due to KLF1 mutation
Congenital dyserythropoietic anemia type 4
Congenital dyserythropoietic anemia type IV (CDA IV) is a newly discovered form of CDA (see this term) characterized by ineffective erythropoiesis and hemolysis that leads to severe anemia at birth.
Congenital dyserythropoietic anemia type IV
Constitutional dyserythropoietic anemia
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_370114 with label: Combined cervical dystonia
Fatal infantile encephalopathy-pulmonary hypertension syndrome
Craniofacial-ulnar-renal syndrome
Malpuech-Michels-Mingarelli-Carnevale syndrome
3MC syndrome describes a rare developmental disorder, that unifies the overlapping autosomal recessive disorders previously known as Carnevale, Mingarelli, Malpuech and Michels syndromes, characterized by a spectrum of developmental anomalies that include distinctive facial dysmorphism (i.e. hypertelorism, blepharophimosis, blepharoptosis, highly arched eyebrows), cleft lip and/or palate, craniosynostosis, learning disability, radioulnar synostosis and genital and vesicorenal anomalies. Less common features reported include anterior chamber defects, cardiac anomalies (e.g. ventricular septal defect; see this term), caudal appendage, umbilical hernia/omphalocele and diastasis recti.
3MC syndrome
RTLA
rvFTD
Right temporal lobar atrophy (RTLA) is an anatomic variant of frontotemporal dementia (FTD), characterized by behavioral dysfunction, personality changes, episodic memory loss, and prosopagnosia; attributable to an asymmetrical predominantly right-sided, frontotemporal atrophy.
Frontotemporal dementia, right temporal atrophy variant
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome is a rare, potentially fatal, genetic, visceral malformation syndrome characterized by neonatal diabetes, hypoplastic or annular pancreas, duodenal and jejunal atresia, as well as gallbladder aplasia or hypoplasia. Patients typically present intrauterine growth restriction, failure to thrive, malnutrition, intestinal malrotation, malabsorption, conjugated hyperbilirubinemia, acholia and infections. Cardiac anomalies may also be associated.
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome
MAF bZIP transcription factor B
Familial isolated arrhythmogenic ventricular cardiomyopathy, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular cardiomyopathy, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular cardiomyopathy, classic form
Familial isolated arrhythmogenic ventricular cardiomyopathy, right dominant form
Familial isolated arrhythmogenic ventricular dysplasia, classic form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Lethal occipital encephalocele-skeletal dysplasia syndrome is a rare, genetic, bone development disorder characterized by occipital and parietal bone hypoplasia leading to occipital encephalocele, calvarial mineralization defects, craniosynostosis, radiohumeral fusions, oligodactyly and other skeletal anomalies (arachnodactyly, terminal phalangeal aplasia of the thumbs, bilateral absence of the great toes, pronounced bilateral angulation of femora, shortened limbs, advanced osseous maturation). Fetal death in utero is associated.
Lethal occipital encephalocele-skeletal dysplasia syndrome
CIAT
CerIII
NaCh6
Nav1.6
PN4
sodium voltage-gated channel alpha subunit 8
Autosomal dominant keratoconus with early-onset anterior polar cataracts
Endothelial dystrophy-iris hypoplasia-congenital cataract-stromal thinning syndrome
Familial keratoconus with cataract
KTCNCT
EDICT (endothelial dystrophy-iris hypoplasia-congenital cataract-stromal thinning) syndrome is a very rare eye disorder representing a constellation of autosomal dominantly inherited ocular findings, including early-onset or congenital cataracts, corneal stromal thinning, early-onset keratoconus, corneal endothelial dystrophy, and iris hypoplasia.
EDICT syndrome
Distal dup(X)q(28)
Distal trisomy Xq28
Distal Xq28 microduplication syndrome is a rare, hereditary, syndromic intellectual disability characterized by cognitive impairment, behavioral and psychiatric problems, recurrent infections, atopic diseases, and distinctive facial features in males. Females are clinically asymptomatic or mildly affected, presenting mild learning difficulties and facial dysmorphism.
Distal Xq28 microduplication syndrome
Monosomy 1p21.3
1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder(see this term).
1p21.3 microdeletion syndrome
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency is a rare inborn error of metabolism disorder characterized by early-onset, acute, encephalopathic episodes (frequently triggered by viral infections), associated with lactic acidosis and alpha-ketoglutaric aciduria, which typically manifest with variable degrees of ataxia, generalized developmental regression (which deteriorates with each episode) and dystonia. Other manifestations include spasticity, seizures, truncal hypotonia, limb hypertonia, brisk tendon reflexes and reversible coma.
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
HPPD
Hypertelorism-preauricular sinus-punctual pits-hearing loss syndrome
Hypertelorism-preauricular sinus-punctual pits-deafness syndrome is a rare developmental defect during embryogenesis syndrome characterized by hypertelorism, bilateral preauricular sinus, bilateral punctal pits, lacrimal duct obstruction, hearing loss, abnormal palmar flexion creases and bilateral distal axial triradii. Shawl scrotum has also been reported.
Hypertelorism-preauricular sinus-punctual pits-deafness syndrome
Hypoinsulinemic hypoglycemia and body hemihypertrophy is a rare, genetic, endocrine disease characterized by neonatal macrosomia, asymmetrical overgrowth (typically manifesting as left-sided hemihypertrophy) and recurrent, severe hypoinsulinemic (or hypoketotic hypo-fatty-acidemic) hypoglycemia in infancy, which results in episodes of reduced consciousness and seizures.
Hypoinsulinemic hypoglycemia and body hemihypertrophy
Hypogonadotropic hypogonadism-severe microcephaly-sensorineural deafness-dysmorphism syndrome
Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome is a rare, non-acquired pituitary hormone deficiency syndrome characterized by severe, congenital microcephaly, facial dysmorphism (highly arched eyebrows, hypertelorism, convex nasal ridge, protruding ears with underdeveloped superior antihelix crus, micrognathia), bilateral sensorineural deafness and hypogonadotropic hypogonadism, in association with early feeding problems, myopia, moderate intellectual disability and moderate short stature.
Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
DAVID syndrome
Deficiency in anterior pituitary function-variable immunodeficiency syndrome is a rare, genetic endocrine disease characterized by the association of common variable immunodeficiency, manifesting with hypogammaglobulinemia and recurrent or severe childhood-onset sinopulmonary infections, followed, possibly many years later, by symptomatic adrenocorticotropic hormone (ACTH) deficiency resulting from anterior pituitary hormone deficiency.
Deficiency in anterior pituitary function-variable immunodeficiency syndrome
ROHHAD
ROHHADNET
Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation-neural tumors syndrome
Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome is a rare, potentially life-threatening, genetic endocrine disease characterized by childhood-onset hyperphagia and obesity, alveolar hypoventilation, dysautonomia (e.g. impaired gastrointestinal motility, abnormal cardiac rhythm, thermal dysregulation), hypothalamic dysfunction and neurobehavioral disorders. Central hypothyroidism, endocrine anomalies (e.g. glucocorticoid deficiency, puberty dysregulation), electrolyte imbalances (e.g. hypo/hypernatremia, hypochloremia), respiratory failure and late-onset neuroendocrine tumors may also be associated.
Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome
Antenatal CMV infection
Antenatal cytomegalovirus infection
Mother-to-child transmission of cytomegalovirus syndrome
. Children born with congenital CMV infection may present with hepatomegaly, splenomegaly, jaundice, pneumonitis, fetal growth retardation, petechiae, purpura, and thrombocytopenia. Congenital CMV infection can equally result in major neurological sequelae, including microcephaly, intracranial calcifications, sensorineural hearing loss, chorioretinitis, intellectual and motor disabilities, and seizure disorders. CMV disease sequelae caused by a primary infection are usually more severe than those caused by the reactivation of a latent infection.
Fetal cytomegalovirus syndrome
Porencephaly is characterized by a circumscribed intracerebral cavity of variable size that may be bordered by abnormal polymicrogyric grey matter. In extreme cases, this cavity may result in a communication between the pial surface and the ventricle; this is termed schizencephaly.
Porencephaly
MIC-CAP syndrome
MIC-CM syndrome
Microcephaly-cutaneous capillary malformation syndrome
Microcephaly-capillary malformation syndrome is a rare, genetic vascular anomaly characterized by severe congenital microcephaly, poor somatic growth, diffuse multiple capillary malformations on the skin, intractable epilepsy, profound global developmental delay, spastic quadriparesis and hypoplastic distal phalanges.
Microcephaly-capillary malformation syndrome
Neonatal inflammatory skin and bowel disease is a rare, life-threatening, autoinflammatory syndrome with immune deficiency disorder characterized by early-onset, life-long inflammation, affecting the skin and bowel, associated with recurrent infections. Patients present perioral and perianal psoriasiform erythema and papular eruption with pustules, failure to thrive associated with chronic malabsorptive diarrhea, intercurrent gastrointestinal infections and feeding troubles, as well as absent, short or broken hair and trichomegaly. Recurrent cutaneous and pulmonary infections lead to recurrent blepharitis, otitis externa and bronchiolitis.
Neonatal inflammatory skin and bowel disease
Trisomy 2q31.1
2q31.1 microduplication syndrome
RLS
multiple joint dislocations-short stature-hyperlaxity-craniofacial dysmorphism syndrome
Reunion Island Larsen syndrome
Rare nevus
Multiple pterygium syndrome
Bonnemann-Meinecke syndrome
Porencephaly-cerebellar hypoplasia-internal malformations syndrome is rare central nervous system malformation syndrome characterized by bilateral porencephaly, absence of the septum pellucidum and cerebellar hypoplasia with absent vermis. Additionally, dysmorphic facial features (hypertelorism, epicanthic folds, high arched palate, prominent metopic suture), macrocephaly, corneal clouding, situs inversus, tetralogy of Fallot, atrial septal defects and/or seizures have been observed.
Porencephaly-cerebellar hypoplasia-internal malformations syndrome
Postpolio sequelae
Postpolio syndrome
Postpoliomyelitic syndrome
Postpoliomyelitis sequelae
Postpoliomyelitis syndrome (PPS) is a neurologic disorder characterized by the development of new neuromuscular symptoms such as progressive muscular weakness or abnormal muscle fatigability occurring in survivors of the acute paralytic form of poliomyelitis (see this term), 15-40 years after recovery from the disease, and that is unexplained by other medical causes. Other manifestations that can occur gradually include generalized fatigue, muscle atrophy, muscle and joint pain, intolerance to cold, and difficulties sleeping, swallowing or breathing.
Postpoliomyelitis syndrome
Ivemark II syndrome
Renohepaticopancreatic dysplasia
Renal-hepatic-pancreatic dysplasia is a rare, genetic, developmental defect during embryogenesis syndrome characterized by the triad of pancreatic fibrosis (and cysts, with a reduction of parenchymal tissue), renal dysplasia (with peripheral cortical cysts, primitive collecting ducts, glomerular cysts and metaplastic cartilage) and hepatic dysgenesis (enlarged portal areas containing numerous elongated binary profiles with a tendancy to perilobular fibrosis). Situs abnormalities, skeletal anomalies and anencephaly have also been associated. Patients that survive the neonatal period present renal insufficiency, chronic jaundice and insulin-dependent diabetes.
Renal-hepatic-pancreatic dysplasia
CIF
Chronic intestinal failure (CIF) is a chronic type of intestinal failure characterized by a nonfunctioning small bowel (that may be reversible or irreversal) where the body is unable to maintain energy and nutritional needs through absorption of food or nutrients via the intestinal tract (despite being metabolically stable) and which therefore necessitates long-term parenteral feeding. CIF may be the result of congenital digestive diseases (such as gastroschisis, atresia of small intestine), short bowel syndrome, intra-abdominal or pelvic cancer, or progressive and devastating gastrointestinal or systemic benign diseases (such as Crohn disease).
Chronic intestinal failure
VRL3
transient receptor potential cation channel subfamily V member 3
Brachydactyly, long thumb type
Brachydactyly - long thumb syndrome is a very rare autosomal dominant heart-hand syndrome (see this term) that is characterized by bisymmetric brachydactyly accompanied by long thumbs, joint anomalies (restriction of motion at the shoulder and metacarpophalangeal joints) and cardiac conduction defects. Additional features include small hands and feet, clinodactyly, narrow shoulders with short clavicles, pectus excavatum and mild shortness of the limbs, cardiomegaly and murmur of pulmonic stenosis.It has been described in four family members from three generations, with no new cases having been reported since 1981.
Brachydactyly-long thumb syndrome
CDC54
P1-Cdc21
hCdc21
minichromosome maintenance complex component 4
Coll-1
Hsema-I
SEMA1
SemD
Sema III
semaphorin 3A
Carnevale-Hernández-del Castillo syndrome
Triphalangeal thumbs-brachyectrodactyly syndrome is characterised by triphalangeal thumbs and brachydactyly of the hands. It has been described in four families and in one isolated case. Ectrodactyly of the feet and, more rarely, ectrodactyly of the hands were also reported in some family members. Transmission is autosomal dominant.
Triphalangeal thumbs-brachyectrodactyly syndrome
Amelia
Intercalary meromelia
Intercalary limb defects
use http://www.orpha.net/ORDO/Orphanet_93457 with label: Non-syndromic limb reduction defect
use http://www.orpha.net/ORDO/Orphanet_2440 with label: Isolated split hand-split foot malformation
OBSOLETE: Split hand or/and split foot malformation
use http://www.orpha.net/ORDO/Orphanet_498451 with label: Dysostosis with brachydactyly without extraskeletal manifestations
use http://www.orpha.net/ORDO/Orphanet_498464 with label: Non-syndromic preaxial polydactyly
OBSOLETE: Preaxial polydactyly of fingers
use http://www.orpha.net/ORDO/Orphanet_498467 with label: Non-syndromic postaxial polydactyly
OBSOLETE: Postaxial polydactyly of fingers
Congenital deformities of limbs
Congenital deformities of fingers
Joint formation defects
Congenital joint dislocations
Limb overgrowth
Syndrome with limb reduction defects
Dysostosis with combined reduction defects of upper and lower limbs
Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
OBSOLETE: Syndromes with synostoses of limbs
Popliteal pterygium syndrome
LCCS
Lethal congenital contracture syndrome
Amelia of upper limb
Amelia of lower limb
Total amelia
Tetra-amelia
Congenital absence of humerus
Congenital hypoplasia of humerus
Humeral intercalary meromelia
Humeral agenesis/hypoplasia is a rare, non-syndromic limb reduction defect characterized by the unilateral or bilateral presence of a short arm with completely absent or underdeveloped humerus, frequently associated with ulnar and/or radial malformations. Patients may present with the appearance of the forearm directly attached to the shoulder, no articulation at the shoulder joint, impossible passive extension of the arm beyond the mid-axillary line, no elbow joints, bowing of the radius, a short ulna and/or ulnar/radial deviation of the hand at the wrist.
Humeral agenesis/hypoplasia
Humero-radio-ulnar intercalary transverse meromelia
Congenital absence of upper arm and forearm with hand present
Femorotibiofibular intercalary transverse meromelia
Congenital absence of thigh and lower leg with foot present is a rare, non-syndromic, intercalary limb reduction defect characterized by unilateral or bilateral absence of femoral and tibio-fibular components, with the presence of intact foot elements.
Congenital absence of thigh and lower leg with foot present
Radio-ulnar terminal transverse meromelia
Congenital absence of both forearm and hand is a rare developmental defect during embryogenesis characterized by unilateral or bilateral arrest of proximal to distal development of the upper limb, leading to a transverse deficiency with absence of the forearm, wrist and hand. A short below-the-elbow amputation is most commonly observed and the residual limb is usually well cushioned, with rudimentary nubbins or dumpling possibly found on the end.
Congenital absence of both forearm and hand
Tibiofibular terminal transverse meromelia
Congenital absence of both lower leg and foot is a rare, non-syndromic, terminal transverse limb reduction defect characterized by unilateral or bilateral absence of both the tibia and the fibula, as well as the distal elements composing the foot.
Congenital absence of both lower leg and foot
Congenital absence of hand
Acheiria
Congenital absence of foot
Apodia
Thumb hypodactyly
Thumb oligodactyly
Congenital absence/hypoplasia of thumb is a rare developmental defect during embryogenesis characterized by underdevelopment of the thumb, ranging from a slight decrease in thumb size to complete absence of the thumb. The malformation may occur isolated, combined to other defects of the hand or upper limb, or as part of a multiple congenital anomaly syndrome.
Congenital absence/hypoplasia of thumb
OBSOLETE: Congenital absence/hypoplasia of fingers excluding thumb
Mother-to-child transmission of parvovirus syndrome
Parvovirus antenatal infection
Foetal parvovirus syndrome is a foetopathy likely to occur when a pregnant woman is infected by parvovirus B19. In adults, the virus causes a butterfly erythema infectiosum (also called Fifth Disease; 'slapped cheek disease') and flu-like symptoms with symmetric polyarthralgias, which usually do not warrant prenatal diagnosis.
Fetal parvovirus syndrome
TPT-PS syndrome
Triphalangeal thumb-polysyndactyly syndrome (TPT-PS) is a hand-foot malformation characterized by triphalangeal thumbs and pre- and postaxial polydactyly, isolated syndactyly or complex polysyndactyly.
Triphalangeal thumb-polysyndactyly syndrome
Amniotic band sequence
Amniotic band syndrome
Congenital ring constrictions
Constriction band syndrome
Streeter dysplasia
Constriction rings syndrome is a congenital limb malformation disorder with an extremely variable clinical presentation characterized by the presence of partial to complete, congenital, fibrous, circumferential, constriction bands/rings on any part of the body, although a particular predilection for the upper or lower extremities is seen. Phenotypes range from only a mild skin indentation to complete amputation of parts of the fetus (e.g. digits, distal limb). Compression from the rings may lead to edema, skeletal anomalies (e.g. fractures, foot deformities) and, infrequently, neural compromise.
Constriction rings syndrome
Supernumerary phalanges
Supernumerary phalanx
Hyperphalangy is a congenital, non-syndromic limb malformation characterized by the presence of an accessory phalanx between metacarpal/metatarsal and proximal phalanx, or between any two other phalanges of a digit, excluding the thumb. Hypherphalangy is almost always bilateral and patients present no more than five digits and no other skeletal anomalies.
Hyperphalangy
Mesoaxial polydactyly
Central polydactyly
use http://www.orpha.net/ORDO/Orphanet_295004 with label: Central polydactyly
Mitten hand
Syndactyly, mitten type
Unilateral syndactyly of digits 2-5
Syndactyly type 6 is a rare, genetic, non-syndromic, congenital limb malformation disorder characterized by unilateral fusion of second to fifth fingers, amalgamation of distal phalanges in a knot-like structure, and second- and third-toe fusion. Some individuals present only with webbing between second and third toes, without involvement of fingers.
Syndactyly type 6
Familial isolated clinodactyly of fingers is a rare, genetic, non-syndromic, congenital limb malformation disorder characterized by angulation of a digit in the radio-ulnar (coronal) plane, away from the axis of joint flexion-extension, in several members of a single family with no other associated manifestations. Deviation is usually bilateral and commonly involves the fifth finger. Affected digits present trapezoidal or delta-shaped phalanges on imaging.
Familial isolated clinodactyly of fingers
Camptodactyly of fingers is a rare, genetic, non-syndromic, congenital limb malformation disorder characterized by a painless, non-traumatic, non-neurogenic, often bilateral, permanent flexion contracture at the proximal interphalangeal joint of a postaxial finger, resulting in permanent volar inclination of the affected digit. The fifth finger is always involved, but additional digits might also be affected.
Camptodactyly of fingers
Congenital pseudarthrosis of the tibia
Congenital pseudoarthrosis of the tibia
Congenital pseudarthrosis of the femur
Congenital pseudoarthrosis of the femur
Congenital pseudarthrosis of the fibula
Congenital pseudoarthrosis of the fibula
Congenital pseudarthrosis of the radius
Congenital pseudoarthrosis of the radius
Congenital pseudarthrosis of the ulna
Congenital pseudoarthrosis of the ulna
Tibio-fibular fusion
Tibio-fibular synostosis is a rare, non-syndromic limb malformation characterized by fusion of the proximal or distal tibial and fibular metaphysis and/or diaphysis, frequently associated with distal positioning of the proximal tibiofibular joint, leg length discrepancy, bowing of the fibula, and valgus deformity of the knee.
Tibio-fibular synostosis
Congenital shoulder dislocation
Isolated congenital elbow dislocation
Isolated congenital radial head dislocation
Congenital knee dislocation
Congenital patella dislocation
use http://www.orpha.net/ORDO/Orphanet_86789 with label: Patella aplasia/hypoplasia
OBSOLETE: Patella aplasia/hypoplasia, unilateral
OBSOLETE: Patella aplasia/hypoplasia, bilateral
Macrodactyly of hand
Macrodactyly of fingers
Macrodactyly of foot
Macrodactyly of toes
Upper limb hypertrophy
Lower limb hypertrophy is a rare, genetic, non-syndromic developmental defect during embryogenesis disorder characterized by uni- or bilateral overgrowth of lower limbs involving bones and/or soft tissues and resulting in an abnormal increase in leg length and/or width. Hypertrophy presents either as a proportionate overgrowth of entire limb or involves only the proximal or distal parts of it. Phenotype ranges from mild hypertrophy without functional disability to massively hypertrophied limb with knee flexion and ankle equinus contractures and macrodystrophia lipomatosa. Patients may also present vascular abnormalities (e.g. cutaneous angiomas, varicose veins) and myalgia.
Lower limb hypertrophy
use http://www.orpha.net/ORDO/Orphanet_294967 with label: Amelia of upper limb
OBSOLETE: Amelia of upper limb, unilateral
OBSOLETE: Amelia of upper limb, bilateral
use http://www.orpha.net/ORDO/Orphanet_294969 with label: Amelia of lower limb
OBSOLETE: Amelia of lower limb, unilateral
OBSOLETE: Amelia of lower limb, bilateral
use http://www.orpha.net/ORDO/Orphanet_294973 with label: Humeral agenesis/hypoplasia
OBSOLETE: Humeral agenesis/hypoplasia, unilateral
OBSOLETE: Humeral agenesis/hypoplasia, bilateral
use http://www.orpha.net/ORDO/Orphanet_1987 with label: Femoral agenesis/hypoplasia
OBSOLETE: Femoral agenesis/hypoplasia, unilateral
OBSOLETE: Femoral agenesis/hypoplasia, bilateral
use http://www.orpha.net/ORDO/Orphanet_93321 with label: Radial hemimelia
use http://www.orpha.net/ORDO/Orphanet_93320 with label: Ulnar hemimelia
use http://www.orpha.net/ORDO/Orphanet_93322 with label: Tibial hemimelia
use http://www.orpha.net/ORDO/Orphanet_93323 with label: Fibular hemimelia
use http://www.orpha.net/ORDO/Orphanet_294975 with label: Congenital absence of upper arm and forearm with hand present
OBSOLETE: Congenital absence of upper arm and forearm with hand present, unilateral
OBSOLETE: Congenital absence of upper arm and forearm with hand present, bilateral
use http://www.orpha.net/ORDO/Orphanet_294977 with label: Congenital absence of thigh and lower leg with foot present
OBSOLETE: Congenital absence of thigh and lower leg with foot present, unilateral
OBSOLETE: Congenital absence of thigh and lower leg with foot present, bilateral
use http://www.orpha.net/ORDO/Orphanet_294979 with label: Congenital absence of both forearm and hand
OBSOLETE: Congenital absence of both forearm and hand, unilateral
OBSOLETE: Congenital absence of both forearm and hand, bilateral
use http://www.orpha.net/ORDO/Orphanet_294981 with label: Congenital absence of both lower leg and foot
OBSOLETE: Congenital absence of both lower leg and foot, unilateral
OBSOLETE: Congenital absence of both lower leg and foot, bilateral
Absent thumb-short stature-immunodeficiency is an exceedingly rare, autosomal recessive immune disease characterized by thumb aplasia, short stature with skeletal abnormalities, and combined immunodeficiency described in three sibships from two possibly related families. The skeletal abnormalities included unfused olecranon and the immunodeficiency manifested with severe chickenpox and chronic candidiasis. No new cases have been reported since 1978.
Absent thumb-short stature-immunodeficiency syndrome
use http://www.orpha.net/ORDO/Orphanet_294983 with label: Acheiria
use http://www.orpha.net/ORDO/Orphanet_294986 with label: Apodia
use http://www.orpha.net/ORDO/Orphanet_294988 with label: Congenital absence/hypoplasia of thumb
OBSOLETE: Congenital absence/hypoplasia of thumb, unilateral
OBSOLETE: Congenital absence/hypoplasia of thumb, bilateral
OBSOLETE: Congenital absence/hypoplasia of fingers excluding thumb, bilateral
OBSOLETE: Brachydactyly of fingers, unilateral
OBSOLETE: Brachydactyly of fingers, bilateral
OBSOLETE: Brachydactyly of toes, unilateral
OBSOLETE: Brachydactyly of toes, bilateral
OBSOLETE: Symbrachydactyly of hand and foot, unilateral
OBSOLETE: Symbrachydactyly of hand and foot, bilateral
Hyperphalangy in digits 2-5
Supernumerary phalanges, unilateral
Supernumerary phalanx, unilateral
Hyperphalangy, unilateral
Supernumerary phalanges, bilateral
Supernumerary phalanx, bilateral
Hyperphalangy, bilateral
use http://www.orpha.net/ORDO/Orphanet_93339 with label: Polydactyly of a biphalangeal thumb
OBSOLETE: Polydactyly of a biphalangeal thumb, unilateral
OBSOLETE: Polydactyly of a biphalangeal thumb, bilateral
use http://www.orpha.net/ORDO/Orphanet_93336 with label: Polydactyly of a triphalangeal thumb
OBSOLETE: Polydactyly of a triphalangeal thumb, unilateral
OBSOLETE: Polydactyly of a triphalangeal thumb, bilateral
use http://www.orpha.net/ORDO/Orphanet_93337 with label: Polydactyly of an index finger
OBSOLETE: Polydactyly of an index finger, unilateral
OBSOLETE: Polydactyly of an index finger, bilateral
use http://www.orpha.net/ORDO/Orphanet_93338 with label: Polysyndactyly
use http://www.orpha.net/ORDO/Orphanet_93334 with label: Postaxial polydactyly type A
OBSOLETE: Postaxial polydactyly type A, unilateral
OBSOLETE: Postaxial polydactyly type A, bilateral
use http://www.orpha.net/ORDO/Orphanet_93335 with label: Postaxial polydactyly type B
OBSOLETE: Postaxial polydactyly type B, unilateral
OBSOLETE: Postaxial polydactyly type B, bilateral
OBSOLETE: Central polydactyly of fingers, unilateral
OBSOLETE: Central polydactyly of fingers, bilateral
OBSOLETE: Preaxial polydactyly of toes, unilateral
OBSOLETE: Preaxial polydactyly of toes, bilateral
OBSOLETE: Postaxial polydactyly of toes, unilateral
OBSOLETE: Postaxial polydactyly of toes, bilateral
OBSOLETE: Central polydactyly of toes, unilateral
OBSOLETE: Central polydactyly of toes, bilateral
SD1, Weidenreich type
SD1a
Syndactyly type 1, Weidenreich type
Syndactyly type 1a
Zygodactyly, Weidenreich type
Zygodactyly type 1
SD1, Lueken type
SD1b
Syndactyly type 1, Lueken type
Syndactyly type 1b
Zygodactyly, Lueken type
Zygodactyly type 2
SD1, Montagu type
SD1c
Syndactyly type 1, Montagu type
Syndactyly type 1c
Zygodactyly, Montagu type
Zygodactyly type 3
SD1, Castilla type
SD1d
Syndactyly type 1, Castilla type
Syndactyly type 1d
Zygodactyly, Castilla type
Zygodactyly type 4
SD2, Vordingborg type
SD2a
SPD, Vordingborg type
SPD1
Synpolydactyly, Vordingborg type
Synpolydactyly type 1
SD2, Debeer type
SD2b
SPD, Debeer type
SPD2
Synpolydactyly, Debeer type
Synpolydactyly type 2
SD2, Malik type
SD2c
SPD, Malik type
SPD3
Synpolydactyly, Malik type
Synpolydactyly type 3
Adducted thumbs-arthrogryposis, Christian type is a type of arthrogryposis characterized by congenital cleft palate, microcephaly, craniostenosis and arthrogryposis (limitation of extension of elbows, flexed adducted thumbs, camptodactyly and clubfeet). Additional features include facial dysmorphism ("myopathic" stiff face, antimongoloid slanting, external ophthalmoplegia, telecanthus, low-set large malrotated ears, open mouth, mierogenia and high arched palate). Velopharyngeal insufficiency with difficulties in swallowing, increased secretion of the nose and throat, prominent occiput, generalized muscular hypotonia with mild cyanosis and no spontaneous movements, seizures, torticollis, areflexia, intellectual disability, hypertrichosis of the lower extremities, and scleredema (in the first days of life; see this term) are also observed. The disease often leads to early death. Transmission is autosomal recessive. No new cases of adducted thumbs-arthrogryposis, Christian type have been described since 1983.
Adducted thumbs-arthrogryposis syndrome, Christian type
Congenital vertical talus, unilateral
Congenital vertical talus, bilateral
use http://www.orpha.net/ORDO/Orphanet_3266 with label: Humero-radio-ulnar synostosis
OBSOLETE: Humero-radio-ulnar synostosis, unilateral
OBSOLETE: Humero-radio-ulnar synostosis, bilateral
use http://www.orpha.net/ORDO/Orphanet_3265 with label: Humero-radial synostosis
OBSOLETE: Humero-radial synostosis, unilateral
OBSOLETE: Humero-radial synostosis, bilateral
Humero-ulnar fusion, unilateral
Humero-ulnar synostosis, unilateral
Humero-ulnar fusion, bilateral
Humero-ulnar synostosis, bilateral
Radio-ulnar fusion, unilateral
Radio-ulnar synostosis, unilateral
Radio-ulnar fusion, bilateral
Radio-ulnar synostosis, bilateral
Madelung deformity, unilateral
Madelung deformity, bilateral
Congenital elbow dislocation, unilateral
Congenital elbow dislocation, bilateral
Congenital genu recurvatum
Congenital genu flexum
use http://www.orpha.net/ORDO/Orphanet_295036 with label: Congenital patella dislocation
OBSOLETE: Congenital patella dislocation, unilateral
OBSOLETE: Congenital patella dislocation, bilateral
Macrodactyly of hand, unilateral
Macrodactyly of fingers, unilateral
Macrodactyly of hand, bilateral
Macrodactyly of fingers, bilateral
Macrodactyly of foot, unilateral
Macrodactyly of toes, unilateral
Macrodactyly of foot, bilateral
Macrodactyly of toes, bilateral
centrosomal protein 135
Adducted thumb-clubfoot syndrome
EDS, musculocontractural type
Ehlers-Danlos syndrome, Kosho type
MCEDS
Musculocontractural Ehlers-Danlos syndrome
Ehlers-Danlos syndrome, musculocontractural type is a congenital form of Ehlers-Danlos syndrome characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adduction-flexion contractures of the thumbs, talipes equinovarus, bruisability and multisystem fragility-related manifestations.
Ehlers-Danlos syndrome, musculocontractural type
Brachydactyly-scoliosis-carpal fusion syndrome
Prata-Liberal-Goncalves syndrome
Acrodysplasia scoliosis is a rare, genetic dysostosis disorder characterized by brachydactyly and other finger/toe anomalies (short and/or wide metacarpals, abnormal or absent metatarsals, broad halluces), carpal synostosis, fused cervical vertebrae, scoliosis and spina bifida occulta. There have been no further descriptions in the literature since 1984.
Acrodysplasia scoliosis
Preaxial deficiency-postaxial polydactyly-hypospadias syndrome
Guttmacher syndrome is an extremely rare syndrome characterized by hypoplastic thumbs and halluces, 5th finger clinobrachydactyly, postaxial polydactyly of the hands, short or uniphalangeal 2nd toes with absent nails and hypospadias.
Guttmacher syndrome
Prieto-Badia-Mulas syndrome
This syndrome is characterised by intellectual deficit associated with facial dysmorphism, patella luxation, and abnormal growth of the teeth.
X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome
Mulvihill-Smith syndrome
Progeria-short stature-pigmented nevi is a progeroid disorder characterised by low birthweight, short stature, multiple pigmented nevi and lack of facial subcutaneous fat.
Progeria-short stature-pigmented nevi syndrome
Dyschondroplasia
Ollier disease
Enchondromatosis is a rare primary bone dysplasia disorder characterized by the development of multiple mainly unilateral or asymmetrically distributed enchondromas throughout the metaphyses of the long bones.
Enchondromatosis
Cutis laxa-corneal clouding-intellectual disability syndrome
Progeroid syndrome, De Barsy type
De Barsy syndrome (DBS) is characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract.
De Barsy syndrome
Petty syndrome
Petty-Laxova-Wiedemann syndrome
Progeroid syndrome, Petty type is a rare premature aging syndrome characterized by pre-and postnatal growth retardation, a congenital premature-aged appearance with distinctive craniofacial dysmorphism (wide calvaria with large open anterior fontanel and wide metopic suture, broad forehead, small face, micrognathia), markedly diminished subcutaneous fat, cutis laxa and wrinkled skin, without delay in psychomotor development. Scant, brittle hair, hypoplastic nails and delayed, abnormal dentition, as well as hypoplastic distal phalanges, umbilical hernia and eye abnormalities (myopia/hyperopia, strabismus), are also commonly associated.
Progeroid syndrome, Petty type
Autosomal dominant prognathism is a rare, genetic, developmental defect during embryogenesis disorder characterized by abnormal forward projection of the mandible beyond the standard relation to the cranial base, with lower incisors often overlapping the upper incisors, that is inherited in an autosomal dominant manner. Association with mildly everted lower eyelids, flat malar area, thickened lower lip and craniosynostosis has been reported.
Autosomal dominant prognathism
Lactotroph adenoma
PRL-secreting pituitary adenoma
PRLoma
Pituitary lactotrophic adenoma
Prolactin-secreting pituitary adenoma
Prolactinoma is a usually benign neoplasm of the pituitary gland that results in hyperprolactinemia. The most common clinical manifestations are amenorrhea and infertility in women; and impotence, decreased libido and infertility in men.
Prolactinoma
Properdin deficiency is a rare, hereditary, primary immunodeficiency due to a complement cascade protein anomaly characterized by significantly increased susceptibility to Neisseria species infections. It only affects males, typically presenting with severe or fulminant meningococcal disease.
Properdin deficiency
MRJ
DnaJ heat shock protein family (Hsp40) member B6
PF22
dynein axonemal assembly factor 3
BOV-1A
BOV-1B
BOV-1C
RBM8B
Y14
ZNRP
RNA binding motif protein 8A
Haptocorrin deficiency
TCI deficiency
Transcobalamin-1 deficiency
Transcobalamin I deficiency
LAD
Leukocyte adhesion deficiency (LAD) is a primary immunodeficiency characterized by defects in the leukocyte adhesion process, marked leukocytosis and recurrent infections.
Leukocyte adhesion deficiency
Cohen-Hayden syndrome
Proteus-like syndrome describes patients who do not meet the diagnostic criteria for Proteus syndrome (see this term) but who share a multitude of characteristic clinical features of the disease.
Proteus-like syndrome
TBE
tick. The symptomology is biphasic, with the initial phase being associated with a flu-like illness and the second phase (occurring in less than 10% of patients) with symptoms of meningitis or, more rarely, meningoencephalitis.
Tick-borne encephalitis
Abdominal muscle deficiency syndrome
Eagle-Barret syndrome
Obrinsky syndrome
Triad syndrome
Prune belly syndrome is a rare congenital disorder, belonging to the group of fetal lower urinary tract obstructions (LUTO), involving variable dilation of the lower urinary tract in association with partial or complete absence of the lateral and inferior abdominal wall musculature and in males bilateral non-palpable undescended testes.
Prune belly syndrome
Pseudo-NALD
Pseudo-neonatal adrenoleukodystrophy
Pseudoadrenoleukodystrophy
Peroxisomal acyl-CoA oxidase deficiency is a rare neurodegenerative disorder that belongs to the group of inherited peroxisomal disorders and is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy.
Peroxisomal acyl-CoA oxidase deficiency
Stoelinga-de Koomen-Davis syndrome
and deformed ears.
Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome
Kir6.1
potassium voltage-gated channel subfamily J member 8
DNA repair protein RAD51 homolog 4
HsTRAD
R51H3
Recombination repair protein
Trad
RAD51 paralog D
46,XX disorder of sex development-anorectal anomalies syndrome is a rare developmental defect during embryogenesis syndrome characterized by a normal female karyotype, normal ovaries, male or ambiguous genitalia, urinary tract malformations (ranging from bilateral renal agenesis to mild unilateral hydronephrosis), Müllerian duct anomalies (e.g. complete absence of the uterus and vagina, bicornuate uterus), and imperforate anus. Additional features may include tracheoesophageal fistula, radial aplasia, and malrotation of the gut.
46,XX disorder of sex development-anorectal anomalies syndrome
5-Opase
OPLA
5-oxoprolinase, ATP-hydrolysing
.). It has been described in two sisters born to consanguineous parents.
46,XX disorder of sex development-skeletal anomalies syndrome
Patterson pseudoleprechaunism syndrome
Patterson syndrome
Pseudoleprechaunism syndrome, Patterson type is a rare, genetic, adrenal disorder characterized by congenital bronzed hyperpigmentation, cutis laxa of the hands and feet, body disproportion (comprising large hands, feet, nose and ears), hirsutism and severe intellectual disability. Patients additionally present hyperadrenocorticism, cushingoid features, premature adrenarche and diabetes mellitus, as well as skeletal deformities (not present at birth and which progress with age). There have been no further descriptions in the literature since 1981.
Pseudoleprechaunism syndrome, Patterson type
ASC1p50
CGI-18
activating signal cointegrator 1 complex subunit 1
CD204
SCARA1
SR-A
SR-AI
SR-AII
SR-AIII
macrophage scavenger receptor 1
CIPO
Chronic intestinal pseudo-obstruction (CIPO) is a rare gastrointestinal motility disorder characterized by recurring episodes resembling mechanical obstruction in the absence of organic, systemic, or metabolic disorders, and without any physical obstruction being detected by X-ray or during surgery. CIPO develops predominantly in children and may be present at birth.
Chronic intestinal pseudoobstruction
MNGIE
Mitochondrial NeuroGastroIntestinal Encephalomyopathy (MNGIE) syndrome is characterized by the association of gastrointestinal dysmotility, peripheral neuropathy, chronic progressive external ophthalmoplegia and leukoencephalopathy.
Mitochondrial neurogastrointestinal encephalomyopathy
Pseudopapilledema-blepharophimosis-hand anomalies syndrome
Acro-oto-ocular syndrome is a very rare disorder associating pseudopapilledema (optic disc swelling not secondary to increased intracranial pressure), mixed hearing loss, facial dysmorphism and limb extremity anomalies.
Acrootoocular syndrome
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_300 with label: Bifunctional enzyme deficiency
46,XX DSD
46,XX disorder of sex development
Episodic spontaneous hypothermia
Shapiro syndrome
Spontaneous periodic hypothermia (SPH) is a neurological disorder characterized by spontaneous periodic hypothermia and hyperhidrosis in the absence of hypothalamic lesions.
Spontaneous periodic hypothermia
Verloes-Gillerot-Fryns syndrome
Verloes-Gillerot-Fryns syndrome is a rare association of malformations.
Disorder of sex development-intellectual disability syndrome
Absent eyebrows and eyelashes-intellectual disability syndrome
Hal-Berg-Rudolph syndrome
Pseudoprogeria is characterised by intellectual deficit associated with progressive spastic quadriplegia, microcephaly, glaucoma, absence of the eyebrows and eyelashes, and a malformation of the nose. It has been described in two brothers.
Pseudoprogeria syndrome
Math5
bHLHa13
atonal bHLH transcription factor 7
Disorder of thiamine metabolism and transport
Antecubital pterygium syndrome
SLC25A8
uncoupling protein 2
Khalifa-Graham syndrome
Pterygium colli-intellectual disability-digital anomalies syndrome is characterized by pterygium colli, digital anomalies (abnormal small thumbs, widened interphalangeal joints, and broad terminal phalanges), and craniofacial abnormalities (brachycephaly, epicanthic folds, angulated eyebrows, upward slanting of the palpebral fissures, ptosis, hypertelorism, and prominent low-set, posteriorly rotated ears). It has been described in a woman and her son, but the manifestations were much less severe in the mother. The son also had intellectual deficit. The inheritance is either X-linked dominant or autosomal dominant.
Pterygium colli-intellectual disability-digital anomalies syndrome
Autosomal recessive non-lethal multiple pterygium syndrome
EVMPS
Escobar syndrome
Escobar variant multiple pterygium syndrome
Autosomal recessive multiple pterygium syndrome
Acetylcholine receptor, muscarinic 3
cholinergic receptor muscarinic 3
isocitrate dehydrogenase (NADP(+)) 1, cytosolic
DNA-binding protein RFX6
regulatory factor X6
P450RAI-2
cytochrome P450 family 26 subfamily B member 1
hsa-mir-184
microRNA 184
HTPK1
PP20
Placental protein 20
Thiamine diphosphokinase
Thiamine kinase
Thiamine pyrophosphokinase 1
thiamin pyrophosphokinase 1
Haspeslagh-Fryns-Muelenaere syndrome
Short stature-craniofacial anomalies-genital hypoplasia syndrome is characterized by the association of short stature, craniofacial anomalies and genital hypoplasia. Intellectual deficit is also found in the majority of cases, sometimes together with pterygia. Less than 20 cases have been described so far. The mode of transmission is likely to be autosomal dominant with incomplete penetrance. The syndrome is caused by unbalanced reciprocal translocations of the distal parts of chromosomes 6q and 9p, leading to partial trisomy of the distal region of chromosome 6q and partial monosomy of the distal region of chromosome 9p.
Short stature-craniofacial anomalies-genital hypoplasia syndrome
CD156B
cSVP
ADAM metallopeptidase domain 17
Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Pachygyria - epilepsy - intellectual disability - dysmorphism (Fryns-Aftimos syndrome (FA); see this term) corresponds to the appearance of BWS in elderly patients.
Baraitser-Winter cerebrofrontofacial syndrome
Hug
JBTS17
ciliogenesis and planar polarity effector 1
rogdi homolog
MSAP
S-methyl-5'-thioadenosine phosphorylase
c86fus
methylthioadenosine phosphorylase
Phosphodiesterase E3 dunce homolog (Drosophila)
phosphodiesterase 4D
N-acetylglucosaminylphosphatidylinositol deacetylase
phosphatidylinositol glycan anchor biosynthesis class L
DDX13
HLP
SKI2W
SKIV2L1
Ski2 like RNA helicase
FANCU
RAD51-like
X-ray repair cross complementing 2
sorting nexin 10
FMT1
mitochondrial methionyl-tRNA formyltransferase
PKBG
PRKBG
RAC-gamma
protein kinase B, gamma
AKT serine/threonine kinase 3
Tucker syndrome
Ptosis-vocal cord paralysis syndrome is a rare, hereditary disorder with ptosis characterized by the combination of congenital bilateral recurrent laryngeal nerve paralysis and congenital bilateral ptosis. There have been no further descriptions in the literature since 1983.
Ptosis-vocal cord paralysis syndrome
McPherson-Hall syndrome
Ptosis-strabismus-ectopic pupils syndrome is characterised by the association of ptosis, strabismus and ectopic pupils. It has been described in one family (in a mother and three of her children). Transmission is autosomal dominant.
Ptosis-strabismus-ectopic pupils syndrome
Oroticaciduria
Orotidylic decarboxylase deficiency
Uridine monophosphate synthetase deficiency
) localized to chromosome 3q13.
Hereditary orotic aciduria
Bifunctional enzyme deficiency
FMPP
Familial gonadotropin-independent male-limited sexual precocity
Male-limited precocious puberty
Testotoxicosis
Familial male limited precocious puberty (FMPP) is a gonadotropin-independent familial form of male-limited precocious puberty, generally presenting between 2-5 years of age as accelerated growth, early development of secondary sexual characteristics and reduced adult height.
Familial male-limited precocious puberty
EDS with progressive kyphoscoliosis, myopathy, and deafness
EDS with progressive kyphoscoliosis, myopathy, and hearing loss
EDS, kyphoscoliotic and hearing loss type
Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and deafness
Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss
Ehlers-Danlos syndrome, kyphoscoliotic and hearing loss type
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type is a form of Ehlers-Danlos syndrome, characterized by severe generalized hypotonia at birth with severe early-onset kyphoscolosis along with joint hypermobility (without contractures) leading to recurrent dislocations, and sensorineural hearing impairment.
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
ITP
Immune thrombocytopenia
Thrombocytopenic purpura, autoimmune
100,000/microL), in the absence of any underlying disorder that may be associated with thrombocytopenia.
Immune thrombocytopenic purpura
P101-PI3K
phosphoinositide-3-kinase regulatory subunit 5
lncRNA-N3
calcium voltage-gated channel auxiliary subunit alpha2delta 1
Bone fragility-contractures-arterial rupture-deafness syndrome
Connective tissue disorder due to LH3 deficiency
Connective tissue disorder due to lysyl hydroxylase-3 deficiency is a rare, genetic disease, caused by lack of lysyl hydrohylase 3 (LH3) activity, characterized by multiple tissue and organ involvement, including skeletal abnormalities (club foot, progressive scoliosis, osteopenia, pathologic fractures), ocular involvement (flat retinae, myopia, cataracts) and hair, nail and skin anomalies (coarse, abnormally distributed hair, skin blistering, reduced palmar creases, hypoplastic nails). Patients also present intrauterine growth retardation, facial dysmorphism (flat facial profile, low-set ears, shallow orbits, short and upturned nose, downturned corners of mouth) and joint flexion contractures. Growth and developmental delay, bilateral sensorineural deafness, friable diaphragm and later-onset spontaneous vascular ruptures are additional reported features.
Connective tissue disorder due to lysyl hydroxylase-3 deficiency
Transient infantile hypertriglyceridemia and fatty liver
Transient infantile hypertriglyceridemia and hepatosteatosis is a rare, genetic, hepatic disease characterized by massive hepatomegaly, moderate to severe, transient hypertriglyceridemia and hepatic steatosis (followed by fibrosis), manifesting in infancy with failure to thrive, vomiting, an enlarged abdomen and a fatty liver. Reduction or normalization of triglyceride serum levels occurs with advancing age.
Transient infantile hypertriglyceridemia and hepatosteatosis
Severe congenital hypochromic sideroblastic anemia
STEAP3/TSAP6-related sideroblastic anemia is a very rare severe non-syndromic hypochromic anemia, which is characterized by transfusion-dependent hypochromic, poorly regenerative anemia, iron overload, resembling non-syndromic sideroblastic anemia (see this term) except for increased erythrocyte protoporphyrin levels.
Severe congenital hypochromic anemia with ringed sideroblasts
Camera syndrome
Pyknoachondrogenesis is a lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis.
Pyknoachondrogenesis
Trisomy 11p15.4
11p15.4 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy characterized by obesity, global developmental delay and intellectual disability, facial dysmorphism (synophrys, high-arched eyebrows, large posteriorly rotated ears, upturned nose, long smooth philtrum, overbite and high palate), large hands and limb hypotonia. Additional features include seizures and behavioral abnormalities.
11p15.4 microduplication syndrome
Congenital cataract-deafness-severe developmental delay syndrome
Lethal neurodegenerative disorder due to copper transport defect
Congenital cataract-hearing loss-severe developmental delay syndrome is a rare, genetic, lethal, neurometabolic disease characterized by congenital cataracts, sensorineural hearing loss, severe psychomotor developmental delay, severe, generalized muscular hypotonia, and central nervous system abnormalities (incl. cerebellar and cerebral hypoplasia, hypomyelination, wide subarachnoid spaces), in the presence of low serum copper and ceruloplasmin. Nystagmus and seizures have also been reported.
Congenital cataract-hearing loss-severe developmental delay syndrome
CMT2P
Charcot-Marie-Tooth disease type 2P is a rare, genetic, axonal hereditary motor and sensory neuropathy disorder characterized by adulthood-onset of slowly progressive, occasionally asymmetrical, distal muscle weakness and atrophy (predominantly in the lower limbs), pan-modal sensory loss, muscle cramping in extremities and/or trunk, pes cavus and absent or reduced deep tendon reflexes. Gait anomalies and variable autonomic disturbances, such as erectile dysfunction and urinary urgency, may be associated.
Charcot-Marie-Tooth disease type 2P
PPBL
Persistent polyclonal B-cell lymphocytosis with binucleated lymphocytes
Persistent polyclonal B-cell lymphocytosis (PPBL) is a rare, generally benign, lymphoproliferative hematological disease characterized by: chronic, stable, persistent, polyclonal lymphocytosis of memory B-cell origin, the presence of binucleated lymphocytes in the peripheral blood, and a polyclonal increase in serum immunoglobulin M (IgM). Patients are most frequently asymptomatic or may present with mild splenomegaly.
Persistent polyclonal B-cell lymphocytosis
Nephrotic syndrome-hearing loss-pretibial epidermolysis bullosa syndrome
Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome is a rare, genetic, renal disease characterized by hereditary nephritis leading to nephrotic syndrome and end-stage renal failure associated with sensorineural hearing loss and pretibial skin blistering followed by atrophy. Other reported manifestations include bilateral lacrimal duct stenosis, dystrophic teeth and nails, bilateral cervical ribs, unilateral kidney, distal vaginal agenesis and anemia due to beta-thalassemia minor.
Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome
use http://www.orpha.net/ORDO/Orphanet_91495 with label: Persistent hyperplastic primary vitreous
OBSOLETE: Congenital blindness due to retinal non-attachment
Autosomal SLE
Familial SLE
Familial systemic lupus erythematosus
Autosomal systemic lupus erythematosus is a rare, genetic, multisystemic, chronic autoimmune disease characterized by the presence of systemic lupus erythematosus symptoms in two or more members of a single family. Patients present a wide spectrum of clinical manifestations, including cutaneous (malar rash, photosensitivity), ocular (keratoconjunctivitis sicca, retinopathy), gastrointestinal (oral ulceration, abdominal pain), cardiac (atherosclerosis, chest pain), pulmonary (serositis, pleurisy), musculoskeletal (arthralgia, myalgia), renal (nephritis, hematuria), obstetrical (increased spontaneous abortions, neonatal lupus), constitutional (fatigue, loss of appetite) and neuropsychiatric (mood and cognitive disorders) involvement, among others.
Autosomal systemic lupus erythematosus
FACU
Familial atypical cold urticaria
Familial cold urticaria with common variable immunodeficiency
PLAID
PLCG2-associated antibody deficiency and immune dysregulation is a rare, hereditary, immune deficiency with skin involvement characterized by early-onset cold urticaria after generalized exposure to cold air or evaporative cooling and not after contact with cold objects. Additional immunologic abnormalities are often present - antibody deficiency, recurrent infections, autoimmune disease and symptomatic allergic disease.
PLCG2-associated antibody deficiency and immune dysregulation
Hereditary infantile gigantism
Hereditary pituitary hyperplasia
Infantile gigantism due to pituitary hyperplasia
X-LAG (X-linked acrogigantism)
4.5 SD) due to pituitary mixed growth hormone- and prolactin-secreting adenomas and/or mixed-cell pituitary hyperplasia. Patients present gigantism and may associate acromegalic features (e.g. coarse facial features, frontal bossing, prognathism, increased interdental space) as well as marked enlargement of hands and feet, soft tissue swelling, appetite increase and acanthosis nigricans.
Familial infantile gigantism
Progeroid and marfanoid aspect-lipodystrophy syndrome is a rare systemic disease characterized by a neonatal progeroid appearance (not associated with other manifestations of premature aging) associated with facial dysmorphism (e.g. macrocephaly or arrested hydrocephaly, proptosis, downslanting palpebral fissures, retrognathia), generalized, extreme, congenital lack of subcutaneous fat tissue (except in the breast and iliac region) and incomplete signs of Marfan syndrome (mainly severe myopia, joint hyperextensibility and arachnodactyly). Metabolic disturbances are not associated.
Progeroid and marfanoid aspect-lipodystrophy syndrome
Pituitary carcinoma
Mirror polydactyly-vertebral segmentation-limbs defects syndrome is characterised by mirror polydactyly, vertebral hypersegmentation and severe congenital limb deficiencies. Duodenal atresia and absent thymus were also reported. So far, it has been described in four unrelated infants identified through a congenital malformation screening program carried out in Spain. The prevalence was estimated at around 1 in 330,000. The etiology is unknown but it was suggested that the syndrome is caused by defective expression of a developmental control gene.
Mirror polydactyly-vertebral segmentation-limbs defects syndrome
Sagliker syndrome
MCAHS type 2
Multiple congenital anomalies-hypotonia-seizures syndrome type 2 is a rare, genetic, lethal, neurometabolic malformation syndrome characterized by multiple, variable, congenital cardiac (systolic murmur, atrial septal defect), urinary (duplicated collecting system, vesicoureteral reflux) and central nervous system (thin corpus callosum, cerebellar hypoplasia) malformations associated with neonatal hypotonia, early-onset epileptic encephalopathy, and myoclonic seizures. Craniofacial dysmorphism (prominent occiput, enlarged fontanel, fused metopic suture, upslanted palpebral fissures, overfolded helix, depressed nasal bridge, anteverted nose, malar flattening, microstomy with downturned corners, Pierre-Robin sequence, high arched palate, short neck) and other manifestions (joint contractures, hyperreflexia, dysplastic nails, developmental delay) are also observed.
Multiple congenital anomalies-hypotonia-seizures syndrome type 2
Metaphyseal dysplasia, Pyle type
Pyle disease is a bone dysplasia characterised by genu valgum, metaphyseal anomalies with broadening of the long bones extending into the diaphyses and giving the femora and tibiae an 'Erlenmeyer flask'' appearance, widening of the ribs and clavicles, platyspondyly and cortical thinning.
Pyle disease
Painful orbital and systemic neurofibromas-marfanoid habitus syndrome is a rare, benign, peripheral nerve sheath tumor disorder characterized by multiple, painful, mucin-rich plexiform neurofibromas located in the orbits, cranium, large spinal nerves and mucosa, associated with a marfanoid habitus, enlarged corneal nerves, congenital neuronal migration anomalies and facial dysmorphism which includes ptosis, proptosis, prominent nose, full lips, gingival hyperplasia, and multiple subcutaneous and submucosal nodules in the lips and sublingual zone.
Painful orbital and systemic neurofibromas-marfanoid habitus syndrome
Acanthoma of the nail matrix
Onychocytic matricoma is a rare, benign, nail tumor originating in the nail matrix characterized by localized pachyonychia and variable degrees of pigmentation: pigmented, melanocytic (common, longitudinal melanonychia that may simulate a foreign body) or hypopigmented. Histopathology demonstrates a purely epithelial tumor with endokeratinization in the deep portion and concentrically arranged nests of prekeratogenous and keratogenous cells.
Onychocytic matricoma
Onychomatricoma is a rare, benign nail tumor originating in the nail matrix characterized by localized or diffuse thickening of the nail plate, increased transverse or longitudinal overcurvature, a yellow longitudinal band of variable width, swelling of the proximal nail fold, multiple splinter hemorrhages and the presence of honeycomb-like cavities in the distal margin of the nail plate. Nail dystrophy and dorsal pterygium may be associated. Occasionally, a pigmented lesion has been reported.
Onychomatricoma
Rare nail tumor
PHA2D
Pseudohypoaldosteronism type 2D
PHA2E
Pseudohypoaldosteronism type 2E
CDG syndrome type Ir
CDG-Ir
CDG1R
Carbohydrate deficient glycoprotein syndrome type Ir
Congenital disorder of glycosylation type 1r
Congenital disorder of glycosylation type Ir
DDOST-CDG
Familial infantile hypercalcemia with suppressed intact parathyroid hormone
Autosomal recessive infantile hypercalcemia is a rare, genetic, phosphocalcic metabolism disorder characterized by early-onset hypercalcemia, hypophosphatemia, hypercalciuria, decreased intact parathyroid hormone serum levels and medullary nephrocalcinosis, typically manifesting with failure to thrive, hypotonia, vomiting, constipation and/or polyuria.
Autosomal recessive infantile hypercalcemia
Follicular pancreatocholangitis
Follicular cholangitis and pancreatitis is a rare pancreatobiliary disease characterized by marked duct-centered lymphoid follicular inflammation that develops in both biliary and pancreatic ductal systems, mainly affecting the hilar bile ducts and the pancreatic head. Patients present with jaundice, abdominal pain, liver dysfunction, pruritus and/or weight loss. Histology shows lymphoplasmacytic infiltration with formation of numerous, large lymphpoid follicles around the affected bile and pancreatic ducts.
Follicular cholangitis and pancreatitis
Ampullary carcinoma
Ampulloma
Carcinoma of the ampulla of Vater is a rare malignant tumor originating from the ampulla of Vater that can present with symptoms of general fatigue, loss of appetite, weight loss, nausea, vomiting, abdominal pain and, most commonly, painless obstructive jaundice. The tumor is believed to arise from duodenal, biliary or pancreatic epilthelium, resulting in the respective histological types. In general, carcinoma of the ampulla of Vater has a better prognosis (5-year survival rate of 45%) than cancers of the distal bile duct and pancreas.
Carcinoma of the ampulla of Vater
CPFE
Combined pulmonary fibrosis-emphysema syndrome
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
Polymicrogyria due to TUBB2B mutation
Autosomal dominant ectodermal dysplasia-cancer predisposition syndrome
Oligodontia-cancer predisposition syndrome is a rare, genetic, odontologic disease characterized by congenital absence of six or more permanent teeth (excluding the third molars) in association with an increased risk for malignancies, ranging from gastrointestinal polyposis to early-onset colorectal cancer and/or breast cancer. Ectodermal dysplasia (manifesting with sparse hair and/or eyebrows) may also be associated.
Oligodontia-cancer predisposition syndrome
Staphylococcal toxemia
Antiquitin deficiency
Vitamin B6-dependent seizures
Pyridoxine-dependent epilepsy (PDE) is a rare neurometabolic disease characterized by recurrent intractable seizures in the prenatal, neonatal and postnatal period that are resistant to anti-epileptic drugs (AEDs) but that are responsive to pharmacological dosages of pyridoxine (vitamin B6).
Pyridoxine-dependent epilepsy
JALS
Juvenile Charcot disease
Juvenile Lou Gehrig disease
Juvenile amyotrophic lateral sclerosis (JALS) is a very rare severe motor neuron disease characterized by progressive upper and lower motor neuron degeneration causing facial spasticity, dysarthria, and gait disorders with onset before 25 years of age.
Juvenile amyotrophic lateral sclerosis
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation is a rare familial dilated cardiomyopathy characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy and elevated serum creatine kinase.
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
Ataxia with lactic acidosis type 2
Ataxia with lactic acidosis type II
Leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency
Leigh syndrome due to PC deficiency
Leigh syndrome due to pyruvate carboxylase deficiency
Pyruvate carboxylase (PC) deficiency is a rare neurometabolic disorder characterized by metabolic acidosis, failure to thrive, developmental delay, and recurrent seizures at an early age in severely affected patients.
Pyruvate carboxylase deficiency
Indolent B-cell NHL
Indolent B-cell non-Hodgkin lymphoma
Aggressive B-cell NHL
Aggressive B-cell non-Hodgkin lymphoma
DLBCL of the CNS
Diffuse large B-cell lymphoma of the central nervous system
THRLBCL
T-cell/histiocyte rich large B cell lymphoma (THRLBCL) is a rare variant of diffuse large B-cell lymphoma (DLBCL; see this term), mainly affecting middle-aged men and often not being discovered until an advanced disease stage, with involvement of the spleen, liver and bone marrow occurring at a greater frequency than in DLBCL. It is often difficult to diagnose due to its similarity with other lymphoid diseases such as classic Hodgkin lymphoma and nodular lymphocyte-predominant Hodgkin lymphoma (see these terms) and has an aggressive clinical course.
T-cell/histiocyte rich large B cell lymphoma
Primary C-ALCL
Regressive atypical histiocytosis
Primary cutaneous anaplastic large cell lymphoma (C-ALCL) is a rare T-cell non-Hodgkin lymphoma that affects the skin and generally shows no extracutaneous involvement at presentation. It belongs to the spectrum of primary cutaneous CD30+ lymphoproliferative disorders along with lymphomatoid papulosis (see this term) with which it shares overlapping clinical and histopathologic features.
Primary cutaneous anaplastic large cell lymphoma
SDRPL
Splenic diffuse red pulp lymphoma
Splenic diffuse red pulp small B-cell lymphoma is a rare, indolent B-cell non-Hodgkin lymphoma characterized by abnormal proliferation of small, monomorphous, basophilic B-lymphocytes, with villous cytoplasm, in the splenic red pulp, bone marrow and peripheral blood. It typically presents in the late clinical stages with splenomegaly and moderate lymphocytosis. Cytopenias are rare and likely associated with hypersplenism.
Splenic diffuse red pulp small B-cell lymphoma
HCL-v
Leukemic reticuloendotheliosis variant
Prolymphocytic variant of HCL
Prolymphocytic variant of hairy cell leukemia
Hairy Cell Leukemia variant (HCL-V) is defined as a rare and indolent form of small, mature, B-cell leukemia characterized by splenomegaly, an elevated white blood cell (WBC) count and hyper-cellular bone marrow. HCL-V is more aggressive and resistant to therapy than classical HCL (HCL-C) (see this term).
Hairy cell leukemia variant
DLBCL with chronic inflammation
Diffuse large B-cell lymphoma with chronic inflammation is an Epstein-Barr virus-associated malignant lymphoproliferative disorder, developing in a context of long-standing or slow-growing, chronically inflamed lesions, such as chronic pyothorax, metallic implants in bones and joints, chronic osteomyelitis, chronic venous ulcer, or, rarely granulomatous inflammation. The tumor is usually primarily localized, with no involvement of other organs.
Diffuse large B-cell lymphoma with chronic inflammation
ALK+ ALCL
ALK+ anaplastic large cell lymphoma
ALK-positive anaplastic large cell lymphoma (ALK+ ALCL) is a type of ALCL (see this term), a rare and aggressive peripheral T-cell non-Hodgkin lymphoma affecting lymph nodes and extranodal sites, which is characterized by the expression of a protein called anaplastic lymphoma kinase (ALK).
ALK-positive anaplastic large cell lymphoma
ALK- ALCL
ALK- anaplastic large cell lymphoma
ALK-negative anaplastic large cell lymphoma (ALK- ALCL) is a type of ALCL (see this term), a rare and aggressive peripheral T-cell non-Hodgkin lymphoma affecting lymph nodes and extranodal sites, which is characterized by the lack of expression of a protein called anaplastic lymphoma kinase (ALK).
ALK-negative anaplastic large cell lymphoma
Marginal zone lymphoma
Ependymal tumor is a tumor of neurectodermal origin arising from ependymal cells that line the ventricles and central canal of the spinal cord, that can occur in both children and adults, and that is characterized by wide a range of clinical manifestations depending on the location of the tumor, such as intracranial hypertension for tumors originating in the posterior fossa, behavioural changes and pyramidal signs for supratentorial tumors, and dysesthesia for tumors of the spinal cord. They can be classified as myxopapillary ependymoma, subependymoma, ependymoma (benign or low grade tumors) or anaplastic ependymoma (malignant or grade III tumors).
Ependymal tumor
Dysharmonic skeletal maturation-muscular fiber disproportion syndrome
Qazi-Markouizos syndrome is characterised principally by non-progressive central hypotonia, chronic constipation, severe psychomotor retardation, abnormal dermatoglyphics, dysharmonic skeletal maturation and disproportionate muscle fibres. Seizures or an abnormal electroencephalograph were also reported. To date, the syndrome has been reported in three unrelated Puerto Rican boys.
Qazi-Markouizos syndrome
Spastic quadriplegia-retinitis pigmentosa-intellectual disability syndrome
Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome is characterized by nonprogressive spastic paraplegia, retinitis pigmentosa, and intellectual deficit. It has been described in two brothers born to consanguineous parents.
Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_2712 with label: Oculofaciocardiodental syndrome
Radiculomegaly of canine teeth- congenital cataract
Radio-renal syndrome is a rare developmental defect during embryogenesis characterized by variable upper limb reduction defects and renal anomalies. Patients typically present absence/hypoplasia of digits, radii and/or ulnae, short stature and mild external ear malformation, as well as kidney agenesis or ectopia. There have been no further descriptions in the literature since 1983.
Radio-renal syndrome
Absent radius-anogenital anomalies syndrome is a rare, genetic limb reduction defects syndrome characterized by bilateral radial aplasia/hypoplasia manifesting with absent/short forearms in association with anogenital abnormalities (e.g. hypospadias or imperforate anus). Additional features reported include hydrocephalus and absent preaxial digits. There have been no further descriptions in the literature since 1993.
Absent radius-anogenital anomalies syndrome
Rambaud-Gallian syndrome
Rambaud-Gallian-Touchard syndrome
Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome is characterized by progressive hyalinosis involving capillaries and often arterioles and small veins of the digestive tract, kidneys, and idiopathic cerebral calcifications. It has been described in three sisters born to non-consanguineous parents. All three patients also had poikilodermia and greying hair, as well as severe diarrhoea, rectal bleeding, malabsorption and subarachnoid hemorrhage.
Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome
Cherubism-gingival fibromatosis-intellectual disability syndrome
Ramon syndrome
Lewandowsky-Lutz syndrome
Lutz-Lewandowsky epidermodysplasia verruciformis
Epidermodysplasia verruciformis (EV) is a rare inherited genodermatosis characterized by chronic infection with human papillomavirus (HPV) leading to polymorphous cutaneous lesions and high risk of developing non melanoma skin cancer.
Epidermodysplasia verruciformis
Facial nerve palsy due to VZV
Facial nerve palsy due to herpes zoster infection
Facial nerve paralysis due to VZV
Ramsay Hunt syndrome
RAPADILINO syndrome is a syndrome for which the acronym indicates the principal signs: RA for radial ray defect, PA for both patellae hypoplasia or aplasia and cleft or highly arched palate, DI for diarrhea and dislocated joints, LI for little size and limb malformations, NO for long, slender nose and normal intelligence.
RAPADILINO syndrome
Rasmussen-Johnsen-Thomsen syndrome
External auditory canal atresia-vertical talus-hypertelorism syndrome
Goldblatt-Viljoen syndrome
Radial ray hypoplasia - choanal atresia is an extremely rare syndrome characterized by radial ray hypoplasia, choanal atresia and convergent strabismus.
Radial ray hypoplasia-choanal atresia syndrome
Caudal dysplasia
Sacral agenesis syndrome
Sacral regression syndrome
Caudal regression sequence is a rare congenital malformation of the lower spinal segments associated with aplasia or hypoplasia of the sacrum and lumbar spine.
Caudal regression sequence
KIAA0590
gs114
intraflagellar transport 140
Misu
Myc-induced SUN-domain-containing protein
TRM4
tRNA methyltransferase 4 homolog (S. cerevisiae)
NOP2/Sun RNA methyltransferase family member 2
Guanine nucleotide-binding protein G(k) subunit alpha
G protein subunit alpha i3
phospholipase C beta 4
Hsh49
SAP49
SF3b49
splicing factor 3b subunit 4
4-diphosphocytidyl-2C-methyl-D-erythritol synthase homolog (Arabidopsis)
IspD
Nip
Notch1-induced protein
isoprenoid synthase domain containing
UV stimulated scaffold protein A
KSHIVB
Kv4.3
potassium voltage-gated channel subfamily D member 3
DEB
Dermolytic epidermolysis bullosa
Epidermolysis bullosa dystrophica
Dystrophic epidermolysis bullosa (DEB) is a form of inherited epidermolysis bullosa (EB) characterized by cutaneous and mucosal fragility resulting in blisters and superficial ulcerations that develop below the lamina densa of the cutaneous basement membrane and that heal with significant scarring and milia formation. It comprises ten sub-types with the three most common being generalized dominant DEB (DDEB), severe generalized recessive DEB (RDEB- sev gen) and RDEB generalized-other (see these terms).
Dystrophic epidermolysis bullosa
leucine rich repeat and sterile alpha motif containing 1
SMAP2
SPARC related modular calcium binding 2
glutamate receptor interacting protein 1
BGL
LAB300
LBA
LPS responsive beige-like anchor protein
KIAA0233
piezo type mechanosensitive ion channel component 1
Goldston syndrome
Meckel syndrome type 7
Meckel-like syndrome type 1
Renal-hepatic-pancreatic dysplasia-Dandy-Walker cysts syndrome
NPHP3-related Meckel-like syndrome is a rare, genetic, syndromic renal malformation characterized by cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis, and absence of polydactyly.
NPHP3-related Meckel-like syndrome
Primitive renal tubule syndrome
Renotubular dysgenesis
Renal tubular dysgenesis is a rare disorder of the fetus characterized by absent or poorly developed proximal tubules of the kidneys, persistent oligohydramnios, leading to Potter sequence (facial dysmorphism with large and flat low-set ears, lung hypoplasia arthrogryposis and limb positioning defects), and skull ossification defects. It can be acquired during fetal development due to drugs taken by the mother or certain disorders (twin-twin transfusion syndrome, TTTS; see this term) or inherited in an autosomal recessive manner.
Renal tubular dysgenesis
Gonzales-del Angel syndrome
Delayed membranous cranial ossification is a rare, genetic primary bone dysplasia characterized by absent ossification of calvarial bones at birth and characteristic facial dysmorphisms (frontal bossing, hypertelorism, downward-slanting palpebral fissures, proptosis, flat nasal bridge, low-set ears, midface retrusion). Patients present a soft skull at birth which, over time, progressively ossifies and in adulthood typically results in a deformed skull (with brachycephaly and prominent occiput). No other skeletal abnormalities are associated and patients have normal cognitive and motor development.
Delayed membranous cranial ossification
Game-Friedman-Paradice syndrome
Growth delay - hydrocephaly - lung hypoplasia, also named Game-Friedman-Paradice syndrome, is a rare developmental disorder described in 4 sibs so far and characterized by delayed fetal growth, hydrocephaly with patent aqueduct of Sylvius, underdeveloped lungs and various other anomalies such as small jaw, intestinal malrotation, omphalocele, shortness of lower limbs, bowed tibias and foot deformities.
Growth delay-hydrocephaly-lung hypoplasia syndrome
BBS17
leucine zipper transcription factor like 1
CILD17
PR46b
coiled-coil domain containing 103
CENP-36
Centromere protein 36
MSL1v1
NSL1
KAT8 regulatory NSL complex subunit 1
CGI-102
CGI-102 protein
Exosome component Rrp40
RRP40
Rrp40p
hRrp-40
hRrp40p
p10
exosome component 3
DAND2
DRM
Gremlin
gremlin 1, DAN family BMP antagonist
Mehes syndrome
This syndrome is extremely rare and is characterized by delayed speech development, mild facial asymmetry, strabismus and transverse ear lobe creases.
Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome
KIAA1129
kelch like family member 3
cullin 3
Histidine tRNA ligase 1, cytoplasmic
histidyl-tRNA synthetase
phospholipase C gamma 2
RAIDD
RIP-associated ICH1/CED3-homologous protein with death domain
CASP2 and RIPK1 domain containing adaptor with death domain
glycerol-3-phosphate dehydrogenase 1
GATD6
KIAA0115
OST
OST48
WBP1
advanced glycation end-product receptor 1
oligosaccharyltransferase subunit 48
dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit
Isolated atresia of bile ducts
Non-syndromic biliary atresia
Biliary atresia is a rare, progressive obliterative cholangiopathy of the extrahepatic bile ducts, occuring in the embryonic/ perinatal period, leading to severe and persistent jaundice and acholic stool with an unfavorable course in the absence of treatment.
Isolated biliary atresia
EBS
EEB
Epidermolysis bullosa simplex (EBS) is a group of hereditary epidermolysis bullosa (HEB) disorders characterized by skin fragility resulting in intraepidermal blisters and erosions that occur either spontaneously or after physical trauma.
Epidermolysis bullosa simplex
GCP6
Gamma-tubulin complex component 6
KIAA1669
tubulin gamma complex associated protein 6
Pituitary tumor
nicotinamide nucleotide transhydrogenase
Scholte-Begeer-van Essen syndrome
Intellectual disability-balding-patella luxation-acromicria syndrome is characterised by severe intellectual deficit, patella luxations, acromicria, hypogonadism, facial dysmorphism (including midface hypoplasia and premature frontotemporal balding). It has been described in three unrelated males.
Intellectual disability-balding-patella luxation-acromicria syndrome
FKBP22
FK506 binding protein 14
LH3
Lysyl hydroxlase 3
procollagen-lysine,2-oxoglutarate 5-dioxygenase 3
GATAS
GATA binding protein 5
Primrose syndrome
Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy.
Intellectual disability-cataracts-calcified pinnae-myopathy syndrome
KIAA0078
SCC1
hHR21
kleisin
sister chromatid cohesion 1
RAD21 cohesin complex component
triadin
PETA-3
RAPH
SFA-1
TSPAN24
CD151 molecule (Raph blood group)
ADAM metallopeptidase with thrombospondin type 1 motif 17
OBSOLETE: Intellectual disability-unusual facies syndrome
Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome is characterised by moderate intellectual deficit, craniofacial dysmorphism (including broad nose with coloboma of the alea nasi, deep-set eyes, prognathism), hypergonadotropic hypogonadism, eunuchoid habitus, type 1 diabetes mellitus, and epilepsy. It has been described in four patients (three brothers and their sister). This syndrome is probably transmitted as an autosomal recessive trait.
Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome
ODAG
Ocular development associated gene
GATA zinc finger domain containing 1
DRF3
NSDAN
diaphanous related formin 3
OBSOLETE: Intellectual disability-unusual facies, Davis-Lafer type
phosphatidylinositol glycan anchor biosynthesis class O
D15Ertd747e
GPCR41
PAR1
RFVT2
hRFT3
solute carrier family 52 member 2
BIMP2
CARMA2
caspase recruitment domain family member 14
Hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome
SBBYSS
Say-Barber-Biesecker-Young-Simpson syndrome
Blepharophimosis-intellectual disability syndrome, SBBYS type is characterised by the association of congenital hypothyroidism, facial dysmorphism (microcephaly, blepharophimosis, a bulbous nose, thin lip, low-set ears and micrognathia), postaxial polydactyly and severe intellectual deficit. Less than 20 cases have been reported so far. Cryptorchidism is present in affected males. Some patients also have cardiac anomalies (interventricular communication), hypotonia and growth delay. Autosomal recessive inheritance has been suggested.
Blepharophimosis-intellectual disability syndrome, SBBYS type
NOHLH
SPATA27
TEB2
bHLHe80
spermatogenesis associated 27
spermatogenesis and oogenesis specific basic helix-loop-helix 1
FXR
HRR-1
HRR1
RIP14
bile acid receptor
farnesoid X receptor
nuclear receptor subfamily 1 group H member 4
EBJ
Epidermolysis bullosa atrophicans
JEB
Junctional epidermolysis bullosa (JEB) is a form of inherited epidermolysis bullosa (see this term) characterized by involvement of the skin and mucous membranes, and is defined by the formation of blistering lesions between the epidermis and the dermis at the lamina lucida level of the cutaneous basement membrane zone and by healing of lesions with atrophy and/or exuberant granulation tissue formation.
Junctional epidermolysis bullosa
OBSOLETE: Intellectual disability-hypotonia-skin hyperpigmentation syndrome
Nicolaides-Baraitser syndrome
Intellectual disability-sparse hair-brachydactyly syndrome is a very rare condition of unknown etiology consisting of short stature, hypotrichosis, brachydactyly with cone-shaped epiphyses, epilepsy and severe mental delay. After the initial delineation of this syndrome by Nicolaides and Baraitser in 1993, only five more patients were published in the literature up to now.
Intellectual disability-sparse hair-brachydactyly syndrome
Tranebjaerg-Svejgaard syndrome
X-linked intellectual disability-seizures-psoriasis syndrome has been described in four male cousins. The mode of inheritance is thought to be X-linked recessive.
X-linked intellectual disability-seizures-psoriasis syndrome
Young-Hughes syndrome
X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome is a rare X-linked intellectual disability syndrome characterized by intellectual disability associated with short stature, obesity, primary hypogonadism and an ichthyosiform skin condition. There have been no further descriptions in the literature since 1982.
X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome
X-linked intellectual disability, Brooks type is a rare X-linked intellectual disability syndrome characterized by failure to thrive, speech delay, intellectual disability, muscle hypotonia, spastic diplegia, optic atrophy with myopia, and distinct facial features (including triangular face, bifrontal narrowness, deeply set eyes, low-set/cupped ears, prominent nose, short philtrum, and thin upper lip with tented morphology) that can be evident from birth. Additional manifestations reported in some patients include large joint contractures and pectus excavatum (which become more evident with age) and seizures.
X-linked intellectual disability, Brooks type
Brunner syndrome
Monoamine oxidase-A deficiency is a very rare recessive X-linked biogenic amine metabolism disorder characterized clinically by mild intellectual deficit, impulsive aggressiveness, and sometimes violent behavior and presenting from childhood.
Monoamine oxidase A deficiency
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_457240 with label: X-linked intellectual disability-short stature-overweight syndrome
X-linked intellectual disability, Gu type
BFIE
BFIS
Benign familial infantile convulsions
Benign familial infantile seizures
Benign familial infantile epilepsy (BFIE) is a genetic epileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life.
Benign familial infantile epilepsy
LDLR relative with 11 ligand-binding repeats
LR11
LRP9
SorLA
SorLA-1
gp250
sortilin related receptor 1
use http://www.orpha.net/ORDO/Orphanet_777 with label: X-linked non-syndromic intellectual disability
OBSOLETE: X-linked intellectual disability, Raynaud type
centrosomal protein 126
cilia and flagella associated protein 53
interstitial collagenase
matrix metallopeptidase 1
P85B
p85
phosphoinositide-3-kinase regulatory subunit beta
phosphoinositide-3-kinase regulatory subunit 2
dystonia 15, myoclonic
Class IVa beta-tubulin
beta-5
tubulin beta 4A class IVa
dystonia 17
ELFR
MEF
E74 like ETS transcription factor 4
OBSOLETE: X-linked intellectual disability, Schutz type
Snyder-Robinson syndrome
X-linked intellectual disability, Snyder type is a rare X-linked intellectual disability syndrome characterized by hypotonia, asthenic build with diminished muscle mass, severe generalized psychomotor delay, unsteady gait and moderate to severe intellectual disability, as well as a long, thin, asymmetrical face with prominent lower lip, long fingers and toes and nasal, dysarthric or absent speech. Bone abnormalities (e.g., osteoporosis, kyphoscoliosis, fractures, joint contractures) are also characteristic. Myoclonic, or myoclonic-like, seizures and renal abnormalities have been associated in some patients.
X-linked intellectual disability, Snyder type
OBSOLETE: X-linked intellectual disability, Wittner type
TC-PTP
TCELLPTP
TCPTP
protein tyrosine phosphatase, non-receptor type 2
Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies
Acquired adult-onset immunodeficiency
CSID with starch intolerance
Congenital sucrase-isomaltose malabsorption with starch intolerance
Congenital sucrose intolerance with starch intolerance
Disaccharide intolerance with starch intolerance
Congenital sucrase-isomaltase deficiency with starch intolerance
CSID with minimal starch tolerance
Congenital sucrase-isomaltose malabsorption with minimal starch tolerance
Congenital sucrose intolerance with minimal starch tolerance
Disaccharide intolerance with minimal starch tolerance
Congenital sucrase-isomaltase deficiency with minimal starch tolerance
CSID without starch intolerance
Congenital sucrase-isomaltose malabsorption without starch intolerance
Congenital sucrose intolerance without starch intolerance
Disaccharide intolerance without starch intolerance
Congenital sucrase-isomaltase deficiency without starch intolerance
CSID with starch and lactose intolerance
Congenital sucrase-isomaltose malabsorption with starch and lactose intolerance
Congenital sucrose intolerance with starch and lactose intolerance
Disaccharide intolerance with starch and lactose intolerance
Congenital sucrase-isomaltase deficiency with starch and lactose intolerance
CSID without sucrose intolerance
Congenital sucrose-isomaltose malabsorption without sucrose intolerance
Disaccharide intolerance without sucrose intolerance
Congenital sucrase-isomaltase deficiency without sucrose intolerance
PHTS
mutation and the involvement of derivatives of all 3 germ cell layers, manifesting with hamartomas, overgrowth and neoplasia. Currently, subsets carrying clinical diagnoses of Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus and Proteus-like syndromes and SOLAMEN syndrome (see these terms) belong to PHTS.
PTEN hamartoma tumor syndrome
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_3057 with label: Monoamine oxidase A deficiency
X-linked intellectual disability-monoamine oxidase A metabolism anomaly syndrome
Congenital ILNEB syndrome
Congenital NEP syndrome
Congenital interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome
Congenital nephrotic syndrome-epidermolysis bullosa-pulmonary disease syndrome
Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome
JEB with respiratory and renal involvement
JEB-RR
Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome is a life-threatening multiorgan disorder which develops in the first months of life, presenting with respiratory distress and proteinuria in the nephrotic range, and leading to severe interstitial lung disease and renal failure. Some patients additionally display cutaneous alterations, ranging from blistering and skin erosions to an epidermolysis bullosa-like phenotype, with toe nail dystrophy and sparse hair.
Junctional epidermolysis bullosa with respiratory and renal involvement
LAMB2-related infantile-onset nephrotic syndrome is a rare primary glomerular disease due to homozygous mutations in LAMB2 gene, characterized by prenatal or early-onset progressive steroid-resistant nephrotic syndrome leading to renal failure, and variable ocular defects including myopia, fundus abnormalities, strabismus or nystagmus, without severe visual impairment or blindness. Patients present in early infancy with massive proteinuria, edema, hypertension, and hyperlipidemia. Psychomotor development is normal.
LAMB2-related infantile-onset nephrotic syndrome
SPG48
Autosomal recessive spastic paraplegia type 48 is a form of hereditary spastic paraplegia usually characterized by a pure phenotype of a slowly progressive spastic paraplegia associated with urinary incontinence with an onset in mid- to late-adulthood. A complex phenotype, with the additional findings of cognitive impairment, sensorimotor polyneuropathy, ataxia and parkinsonism, as well as thin corpus callosum and white matter lesions (seen on magnetic resonance imaging), has also been reported.
Autosomal recessive spastic paraplegia type 48
FHHNC
Michellis-Castrillo syndrome
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by renal magnesium (Mg) and calcium (Ca) wasting, nephrocalcinosis, kidney failure and, in some cases, severe ocular impairment. Two subtypes of FHHNC are described: FHHNC with severe ocular involvement (FHHNCOI) and without severe ocular involvement (FHHN) (see these terms).
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis
Familial primary hypomagnesemia with hypocalcuria
Familial primary hypomagnesemia with normocalcuria (FPHN) is a form of familial primary hypomagnesemia (FPH; see this term) which is characterized by low magnesium values but normal calcium values in the serum. The disorder consists of three distinct forms which are: autosomal recessive primary hypomagnesemia with normocalcuria and hypocalcemia (ARPHN), familial primary hypomagnesemia with normocalcuria and normocalcemia (FPHNN) and isolated autosomal dominant hypomagnesemia, Glaudemans type (see these terms).
Familial primary hypomagnesemia with normocalcuria
Isolated hereditary congenital facial paralysis (IHCFP) is an extremely rare neurological disorder presumed to result from maldevelopment of the facial nucleus and/or cranial nerve and has been reported in fewer than 10 families to date. It manifests as non-progressive, isolated, unilateral or bilateral, symmetrical or asymmetrical facial palsy. Involvement of the branches of the facial nerve can be unequal.
Isolated hereditary congenital facial paralysis
Congenital hereditary facial palsy with variable deafness
Congenital hereditary facial palsy with variable hearing loss
Congenital hereditary facial paralysis with variable deafness
Congenital hereditary facial paralysis-variable deafness syndrome
Congenital hereditary facial paralysis-variable hearing loss syndrome is an extremely rare autosomal recessive disorder characterized by bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears), and strabismus.
Congenital hereditary facial paralysis-variable hearing loss syndrome
Hereditary acrokeratotic poikiloderma of Kindler-Weary
ALX1-related frontonasal dysplasia
Frontonasal dysplasia type 3
Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome is a rare, genetic, orofacial clefting malformation syndrome characterized by severe frontonasal dysplasia with complete cleft palate, facial cleft, extreme microphtalmia and hypertelorism, frequently associated with eyelid colobomata, sparse or absent eyelashes/eyebrows, wide nasal bridge with hypoplastic alae nasi, low-set, posteriorly rotated ears and caudal appendage in the sacral region.
Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
Porencephaly-microcephaly-bilateral congenital cataract syndrome is a rare, genetic, central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported.
Porencephaly-microcephaly-bilateral congenital cataract syndrome
gene (11q13.3) was found in the family and the disease is thought to follow an autosomal recessive pattern of inheritance.
FADD-related immunodeficiency
Spherulocytosis
Subcutaneous spherulocystic disease
Myospherulosis
Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome is a rare, genetic, neurologic disease characterized by congenital microcephaly, severe, early-onset epileptic encephalopathy (manifesting as intractable, myoclonic and/or tonic-clonic seizures), permanent, neonatal, insulin-dependent diabetes mellitus, and severe global developmental delay. Muscular hypotonia, skeletal abnormalities, feeding difficulties, and dysmorphic facial features (including narrow forehead, anteverted nares, small mouth with deep philtrum, tented upper lip vermilion) are frequently associated. Brain MRI reveals cerebral atrophy with cortical gyral simplification and aplasia/hypoplasia of the corpus callosum.
Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome
OBSOLETE: Autosomal dominant childhood-onset cortical cataract
OBSOLETE: Susceptibility to myopathies due to statin treatment
#64257;ber density. Large fiber functions (i.e. normal strength, tendon reflexes, and vibration sense) and nerve conduction studies are typically normal.
Sodium channelopathy-related small fiber neuropathy
ADOS
Autosomal dominant Opitz BBB/G syndrome
Autosomal dominant Opitz syndrome
Autosomal dominant Opitz G/BBB syndrome
X-linked Opitz BBB/G syndrome
X-linked Opitz syndrome
XLOS
X-linked Opitz G/BBB syndrome
SPG1
X-linked complicated spastic paraplegia type 1
Rare tumor of gallbladder and EBT
Rare tumor of gallbladder and extrahepatic biliary tract
Rare tumor of liver and IBT
Rare tumor of liver and intrahepatic biliary tract
Rare intoxication due to medical products
Non-infectious iridocyclitis
Non-infectious anterior uveitis
Familial normophosphatemic tumoral calcinosis
Hypercalcemic tumoral calcinosis
Familial tumoral calcinosis (FTC) refers to a rare autosomal recessive disorder characterized by the occurrence of cutaneous and subcutaneous calcified masses, usually adjacent to large joints, such as hips, shoulders and elbows. FTC can occur in the setting of hyperphosphatemia or normophosphatemia, depending on the type of gene mutation involved.
Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome
Rare parkinsonian syndrome due to neurodegenerative disease
HP-HA syndrome
Hemiparkinsonism-hemiatrophy syndrome is a rare parkinsonian disorder characterized by unilateral body atrophy and slowly progressive, ipsilateral, hemiparkinsonian signs (bradykinesia, rigidity, and tremor). Patients typically present with unilateral, action-induced dystonia, in upper or lower limbs, that progresses and becomes bilateral or with tremor which occurs predominantly at rest and progresses to hemiparkinsonism. Scoliosis, scapular winging, raised shoulders, brisk reflexes and extensor plantar responses are frequently associated.
Hemiparkinsonism-hemiatrophy syndrome
PARK9
Kufor-Rakeb syndrome (KRS) is a rare genetic neurodegenerative disorder characterized by juvenile Parkinsonism, pyramidal degeneration (dystonia), supranuclear palsy, and cognitive impairment.
Kufor-Rakeb syndrome
Rare parkinsonian syndrome due to intoxication
Manganese intoxication
Manganism
Manganese poisoning
CO-induced parkinsonism
Carbon monoxide-induced parkinsonism
Cyanide-induced parkinsonism is a rare parkinsonian syndrome due to intoxication which develops in individuals surviving an acute cyanide intoxication episode or due to chronic exposure to small cyanide doses. It presents several weeks after acute exposure with progressive typical clinical features of parkinsonism including bradykinesia, rigidity, dystonia, hypomimia, hypokinetic dysarthria, postural instability and retropulsion but no resting or postural tremor. Brain MRI reveals bilateral lesions in the pallidum, posterior putamen, substantia nigra, subthalamic nucleus, temporal and occipital cortex, and cerebellum.
Cyanide-induced parkinsonism
Miscellaneous movement disorder due to neurodegenerative disease
OBSOLETE: Intellectual disability-microcephaly-phalangeal-facial abnormalities syndrome
Frontotemporal neurodegeneration with movement disorder
Rare tremor disorder
Rare choreic movement disorder
Neurodegenerative disease with chorea
Postinfectious autoimmune disease with chorea
Sydenham chorea
DYT21
Primary dystonia, DYT21 type is a subtype of mixed dystonia with a late-onset form of pure torsion dystonia.
Primary dystonia, DYT21 type
HD-HA syndrome
Hemidystonia-hemiatrophy (HD-HA) is a rare dystonia, usually caused by a static cerebral injury occurring at birth or during infancy, that is characterized by a combination of hemidystonia (HD), involving one half of the body, and hemiatrophy (HA) on the same side as the HD.
Hemidystonia-hemiatrophy syndrome
Rare myoclonus
Primary myoclonus
Rare disease with myoclonus as a major feature
Epilepsy and/or ataxia with myoclonus as major feature
Non progressive epilepsy and/or ataxia with myoclonus as a major feature
use http://www.orpha.net/ORDO/Orphanet_98261 with label: Progressive myoclonic epilepsy
OBSOLETE: Progressive epilepsy and/or ataxia with myoclonus as a major feature
Motor stereotypies
Rare paroxysmal movement disorder
Hyperekplexia
Sporadic hyperekplexia
Chudley-Rozdilsky syndrome
Intellectual disability-myopathy-short stature-endocrine defect syndrome is a rare congenital myopathy syndrome characterized by nonprogressive myopathy (manifesting with mild facial and generalized weakness, bilateral ptosis, and severe lumbar lordosis), severe intellectual disability, short stature, and sexual infantilism (due to hypogonadotropic hypogonadism). The presence of a small pituitary fossa was also noted. There have been no further descriptions in the literature since 1985.
Intellectual disability-myopathy-short stature-endocrine defect syndrome
JME
Juvenile myoclonus epilepsy
Juvenile myoclonic epilepsy is the most common hereditary idiopathic generalized epilepsy syndrome and is characterized by myoclonic jerks of the upper limbs on awakening, generalized tonic-clonic seizures manifesting during adolescence and triggered by sleep deprivation, alcohol intake, and cognitive activities, and typical absence seizures (30% of cases).
Juvenile myoclonic epilepsy
Rare genetic hypokinetic movement disorder
Rare genetic parkinsonian disorder
Rare parkinsonian syndrome due to genetic neurodegenerative disease
Miscellaneous movement disorder due to genetic neurodegenerative disease
Rare genetic tremor disorder
Rare genetic myoclonus
Rare genetic disease with myoclonus as a major feature
FCS syndrome
Faciocutaneoskeletal syndrome
Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors.
Costello syndrome
Diffuse PPK
Diffuse keratosis palmoplantaris
Diffuse palmoplantar hyperkeratosis
Diffuse palmoplantar keratoderma
Isolated diffuse PPK
Isolated diffuse keratosis palmoplantaris
Isolated diffuse palmoplantar hyperkeratosis
Isolated diffuse palmoplantar keratoderma
Stoll-Géraudel-Chauvin syndrome
Intellectual disability-short stature-hypertelorism syndrome is a rare genetic syndromic intellectual disability characterized by short stature, mild to moderate intellectual disability, craniofacial dysmorphism (prominent broad 'square' forehead, hypertelorism, depressed nasal bridge, broad nasal tip and anteverted nares) and early hypotonia, typically present until infancy. There have been no further descriptions in the literature since 1991.
Intellectual disability-short stature-hypertelorism syndrome
Lindsay-Burn syndrome
PPM-X
gene, localised to segment 28 of the long arm of the X chromosome (Xq28).
X-linked intellectual disability-psychosis-macroorchidism syndrome
Disease with diffuse palmoplantar hyperkeratosis as a major feature
Disease with diffuse palmoplantar keratoderma as a major feature
CHAC syndrome
CHACS
Curly hair-acral keratoderma-caries syndrome is an extremely rare ectodermal dysplasia syndrome characterized by premature loss of curly, brittle, dry hair, premature loss of teeth due to caries, nail dystrophy with thickening of the finger- and toe-nails, acral keratoderma and hypohidrosis. Additionally, sparse eyebrows and eyelashes, receding frontal hairline and flattened malar region are associated. The severity of features appears to increase with age.
Curly hair-acral keratoderma-caries syndrome
Autosomal dominant diffuse mutilating palmoplantar hyperkeratosis
Autosomal dominant diffuse mutilating palmoplantar keratoderma
Severe X-linked intellectual disability, Gustavson type is characterised by X-linked mental retardation, microcephaly, optical atrophy with impaired vision or blindness, a severe hearing defect, facial dysmorphology, spasticity, epileptic seizures and restricted joint movement. It has been described in seven children from two generations of a Swedish family. All patients died in during early childhood.
Severe X-linked intellectual disability, Gustavson type
Autosomal recessive disease with diffuse palmoplantar hyperkeratosis as a major feature
Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature
Focal PPK
Focal keratosis palmoplantaris
Focal palmoplantar hyperkeratosis
Focal palmoplantar keratoderma
Isolated focal PPK
Isolated focal keratosis palmoplantaris
Isolated focal palmoplantar hyperkeratosis
Isolated focal palmoplantar keratoderma
Disease with focal palmoplantar hyperkeratosis as a major feature
Disease with focal palmoplantar keratoderma as a major feature
Mutchinick syndrome
Intellectual disability, Buenos-Aires type is a rare intellectual disability syndrome characterized by growth retardation, microcephaly, characteristic facial features (including narrow forehead, bushy eyebrows, hypertelorism, small, downward-slanting palpebral fissures with blepharoptosis, malformed and low-set ears, broad straight nose, thin upper lip, and a wide, tented mouth), developmental delay, intellectual disability, speech disorder, and multiple organ malformations (e.g. ventricular septal defect, megaloureter, dilated renal pelvis). Additional manifestations reported include neurocutaneous lesions (including palmoplantar hyperkeratosis), internal hydrocephalus, and bilateral partial soft-tissue syndactyly of second and third toe.
Intellectual disability, Buenos-Aires type
HOPP syndrome
Hypotrichosis-osteolysis-periodontitis-palmoplantar hyperkeratosis syndrome
Hypotrichosis-striate palmoplantar hyperkeratosis-acroosteolysis-periodontitis syndrome
Hypotrichosis-striate palmoplantar keratoderma-acroosteolysis-periodontitis syndrome
Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome is an extremely rare ectodermal dysplasia syndrome characterized by hypotrichosis universalis with mild to severe scarring alopecia, acro-osteolysis, onychogryphosis, thin and tapered fingertips, periodontitis and caries leading to premature teeth loss, linear or reticular palmoplantar keratoderma and erythematous, scaling, psoriasis-like skin lesions on arms and legs. Lingua plicata and ventricular tachycardia have also been observed.
Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome
Punctate PPK
Punctate keratosis palmoplantaris
Punctate palmoplantar hyperkeratosis
Punctate palmoplantar keratoderma
Marginal papular palmoplantar hyperkeratosis
Marginal papular palmoplantar keratoderma
PME type 1
Progressive myoclonic epilepsy type 1
Progressive myoclonus epilepsy type 1
ULD
Unverricht-Lundborg disease (ULD) is a rare progressive myoclonic epilepsy disorder characterized by action- and stimulus-sensitive myoclonus, and tonic-clonic seizures with ataxia, but with only a mild cognitive decline over time.
Unverricht-Lundborg disease
Wolff-Zimmermann syndrome
Intellectual disability, Wolff type is a rare intellectual disability syndrome characterized by severe intellectual disability, characteristic facial features (low anterior hairline, upward slanting palpebral fissures, ocular hypertelorism, broad, bulbous nose, large ears with helix incompletely developed, thick lips, and micrognathia) and additional anomalies including peripheral joint contractures, delayed skeletal maturation, bilateral cleft lip and palate, strabismus, terminal hypoplasia of fingers, hypospadias, and bilateral inguinal hernias.
Intellectual disability, Wolff type
PPKP3 without elastoidosis
PPPK3 without elastoidosis
Punctate palmoplantar hyperkeratosis type 3 without elastoidosis
Punctate palmoplantar keratoderma type 3 without elastoidosis
Focal acral hyperkeratosis
Disease with punctate palmoplantar hyperkeratosis as a major feature
Disease with punctate palmoplantar keratoderma as a major feature
Autosomal dominant disease associated with punctate palmoplantar hyperkeratosis as a major feature
Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature
Autosomal recessive disease associated with punctate palmoplantar hyperkeratosis as a major feature
Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature
BHC80
BM-006
KIAA1696
PHD finger protein 21A
BRIL
DSPA1
Fragilis4
Hrmp1
dispanin subfamily A member 1
interferon induced transmembrane protein 5
FANCD2 and FANCI associated nuclease 1
Erythrokeratoderma variabilis progressiva (EKVP) is a type of erythrokeratoderma characterized by the association of hyperkeratosis and erythema in persistent, although sometimes variable, circumscribed lesions. Progressive symmetric erythrokeratoderma (PSEK) and erythrokeratoderma variabilis (EKV) are probably no longer two distinctive diseases but rather the two clinical manifestations of a same disease, now known as EKVP.
Erythrokeratoderma variabilis progressiva
Kozlowski-Krajewska syndrome
Intellectual disability-polydactyly-uncombable hair syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, postaxial polydactyly, phalangeal hypoplasia, 2-3 toe syndactyly, uncombable hair and facial dysmorphism (including frontal bossing, hypotelorism, narrow palpebral fissures, nasal bridge and lips, prominent nasal root, large abnormal ears with prominent antihelix, poorly folded helix, underdeveloped lobule and antitragus, and micrognathia evolving into prognatism). Cryptorchidism, conductive hearing loss and progressive thoracic kyphosis were also reported.
Intellectual disability-polydactyly-uncombable hair syndrome
KIAA1455
Ten-M3
teneurin transmembrane protein 3
dynactin subunit 4
Functional methionine synthase deficiency type cblDv1
Methylcobalamin deficiency type cblDv1
Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type A
MOCOD type A
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type B
MOCOD type B
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type C
MOCOD type C
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
Disorder of beta and omega amino acid metabolism
Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency is a rare disorder of branched-chain amino acid metabolism characterized by childhood-onset epilepsy, autism and intellectual disability with reduced levels of plasma branched chain aminoacids.
Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
MCEE deficiency
Methylmalonic acidemia due to methylmalonyl-CoA racemase deficiency
Methylmalonic aciduria due to methylmalonyl-CoA epimerase deficiency
Methylmalonic aciduria due to methylmalonyl-CoA racemase deficiency
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency is a rare inborn error of metabolism disease characterized by mild to moderate, persistent elevation of methylmalonic acid in plasma, urine and cerebrospinal fluid. Clinical presentation may include acute metabolic decompensation with metabolic acidosis (presenting with vomiting, dehydration, confusion, hallucinations), nonspecific neurological symptoms, or may also be asymptomatic.
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
Vitamin B12-responsive methylmalonic aciduria, type cblDv2
Vitamin B12-responsive methylmalonic acidemia, type cblDv2
Aminoacylase deficiency
Disorder of neutral amino acid transport
Disorder of glycolysis
Disorder of fructose metabolism
Disorder of galactose metabolism
Erythrocyte GALE deficiency
Erythrocyte GALE-D
Erythrocyte UDP-galactose-4-epimerase deficiency
Erythrocyte epimerase deficiency galactosemia
Erythrocyte uridine diphosphate galactose-4-epimerase deficiency
Erythrocyte galactose epimerase deficiency
Generalized GALE deficiency
Generalized GALE-D
Generalized UDP-galactose-4-epimerase deficiency
Generalized epimerase deficiency galactosemia
Generalized uridine diphosphate galactose-4-epimerase deficiency
Generalized galactose epimerase deficiency
Retinitis pigmentosa-intellectual disability- labyrinthine deafness-hypogenitalism syndrome
Retinitis pigmentosa-intellectual disability-sensorineural hearing loss-hypogenitalism syndrome
Retinitis pigmentosa - intellectual disability - deafness - hypogenitalism is an extremely rare syndromic retinitis pigmentosa characterized by pigmentary retinopathy, diabetes mellitus with hyperinsulinism, acanthosis nigricans, secondary cataracts, neurogenic deafness, short stature mild hypogonadism in males and polycystic ovaries with oligomenorrhea in females. Inheritance is thought to be autosomal recessive. It can be distinguished from Alstrom syndrome (see this term) by the presence of intellectual disability and the absence of renal insufficiency. There have been no further descriptions in the literature since 1993.
Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome
GSD due to glycogen synthase deficiency
Glycogenosis due to glycogen synthase deficiency
Glycogen storage disease due to glycogen synthase deficiency
Alpha-1,4-glucosidase acid deficiency, infantile onset
GSD due to acid maltase deficiency, infantile onset
GSD type 2, infantile onset
GSD type II, infantile onset
Glycogen storage disease type 2, infantile onset
Glycogen storage disease type II, infantile onset
Glycogenosis due to acid maltase deficiency, infantile onset
Glycogenosis type 2, infantile onset
Glycogenosis type II, infantile onset
Pompe disease, infantile onset
Glycogen storage disease due to acid maltase deficiency, infantile onset is the most severe form of glycogen storage disease due to acid maltase deficiency, characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties. It is often fatal.
Glycogen storage disease due to acid maltase deficiency, infantile onset
use http://www.orpha.net/ORDO/Orphanet_420429 with label: Glycogen storage disease due to acid maltase deficiency, late-onset
OBSOLETE: Glycogen storage disease due to acid maltase deficiency, juvenile onset
ADVIRC
Autosomal dominant vitreoretinochoroidopathy (ADVIRC) is a genetic vitreous-retinal disease characterized by ocular developmental anomalies such as microcornea, a shallow anterior chamber, glaucoma and cataract. Abnormal chorioretinal pigmentation is present, usually lying between the vortex veins and the ora serrata for 360 degrees.
Autosomal dominant vitreoretinochoroidopathy
OBSOLETE: Glycogen storage disease due to acid maltase deficiency, adult onset
GBE deficiency, progressive hepatic form
GSD due to glycogen branching enzyme deficiency, progressive hepatic form
GSD type 4, progressive hepatic form
GSDIV, progressive hepatic form
Glycogen storage disease type 4, progressive hepatic form
Glycogen storage disease type IV, progressive hepatic form
Glycogenosis due to glycogen branching enzyme deficiency, progressive hepatic form
Glycogenosis type 4, progressive hepatic form
Glycogenosis type IV, progressive hepatic form
Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form
GBE deficiency, non progressive hepatic form
GSD due to glycogen branching enzyme deficiency, non progressive hepatic form
GSD type 4, non progressive hepatic form
GSDIV, non progressive hepatic form
Glycogen storage disease type 4, non progressive hepatic form
Glycogen storage disease type IV, non progressive hepatic form
Glycogenosis due to glycogen branching enzyme deficiency, non progressive hepatic form
Glycogenosis type 4, non progressive hepatic form
Glycogenosis type IV, non progressive hepatic form
Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form
GBE deficiency, fatal perinatal neuromuscular form
GSD due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form
GSD type 4, fatal perinatal neuromuscular form
GSDIV, fatal perinatal neuromuscular form
Glycogen storage disease type 4, fatal perinatal neuromuscular form
Glycogen storage disease type IV, fatal perinatal neuromuscular form
Glycogenosis due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form
Glycogenosis type 4, fatal perinatal neuromuscular form
Glycogenosis type IV, fatal perinatal neuromuscular form
Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form
GBE deficiency, congenital neuromuscular form
GSD due to glycogen branching enzyme deficiency, congenital neuromuscular form
GSD type 4, congenital neuromuscular form
GSDIV, congenital neuromuscular form
Glycogen storage disease type 4, congenital neuromuscular form
Glycogen storage disease type IV, congenital neuromuscular form
Glycogenosis due to glycogen branching enzyme deficiency, congenital neuromuscular form
Glycogenosis type 4, congenital neuromuscular form
Glycogenosis type IV, congenital neuromuscular form
Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form
GBE deficiency, childhood combined hepatic and myopathic form
GSD due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form
GSD type 4, childhood combined hepatic and myopathic form
GSDIV, childhood combined hepatic and myopathic form
Glycogen storage disease type 4, childhood combined hepatic and myopathic form
Glycogen storage disease type IV, childhood combined hepatic and myopathic form
Glycogenosis due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form
Glycogenosis type 4, childhood combined hepatic and myopathic form
Glycogenosis type IV, childhood combined hepatic and myopathic form
Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form
GBE deficiency, childhood neuromuscular form
GSD due to glycogen branching enzyme deficiency, childhood neuromuscular form
GSD type 4, childhood neuromuscular form
GSDIV, childhood neuromuscular form
Glycogen storage disease type 4, childhood neuromuscular form
Glycogen storage disease type IV, childhood neuromuscular form
Glycogenosis due to glycogen branching enzyme deficiency, childhood neuromuscular form
Glycogenosis type 4, childhood neuromuscular form
Glycogenosis type IV, childhood neuromuscular form
Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form
Retinohepatoendocrinologic syndrome is characterized by total colorblindness caused by progressive cone dystrophy, degenerative liver disease, and endocrine dysfunction (hypothyroidism, diabetes, repeated abortions or infertility). It has been described in six females from two sibships with a high degree of consanguinity, and in a male from another family.
Retinohepatoendocrinologic syndrome
GBE deficiency, adult neuromuscular form
GSD due to glycogen branching enzyme deficiency, adult neuromuscular form
GSD type 4, adult neuromuscular form
GSDIV, adult neuromuscular form
Glycogen storage disease type 4, adult neuromuscular form
Glycogen storage disease type IV, adult neuromuscular form
Glycogenosis due to glycogen branching enzyme deficiency, adult neuromuscular form
Glycogenosis type 4, adult neuromuscular form
Glycogenosis type IV, adult neuromuscular form
Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form
Dyskeratosis congenita with bilateral exudative retinopathy
Retinopathy-anemia-central nervous system anomalies syndrome
Revesz-DeBuse syndrome
Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita (DC; see this term) with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications.
Revesz syndrome
Glycerol kinase deficiency
Disorder of glyoxylate metabolism
Familial partial epilepsy
Congenital pulmonary venous connection anomaly
Congenital pulmonary venous return anomaly is a cardiac malformation where some or all of the pulmonary veins drain into the right atrium or the systemic veins, with or without the presence of pulmonary venous obstruction, leading to various manifestations such as fatigue, exertional dyspnea, pulmonary arterial hypertension, cyanosis and progressive congestive heart failure. The two main subtypes are congenital partial pulmonary venous return anomaly (PAPVC; see this term), where one or a few of the pulmonary veins are anomalous, and congenital total pulmonary venous return anomaly (TAPVC, see this term), where all of the pulmonary veins are anomalous.
Congenital pulmonary venous return anomaly
Disorder of carbohydrate absorption and transport
Disorder of lipid metabolism
LPL deficiency
Familial lipoprotein lipase deficiency
Familial apoC-II deficiency
Familial apolipoprotein C-II deficiency
Mevalonate kinase deficiency
Disorder of lipid absorption and transport
Pancreatic triglyceride lipase deficiency
Pancreatic triacylglycerol lipase deficiency
Congenital systemic veins anomaly
Pancreatic colipase deficiency
Combined pancreatic lipase-colipase deficiency is a disorder of lipid absorption and transport characterized by steatorrhea with foul-smelling stools from birth, diminished serum carotene and vitamin E and a combined deficiency of the pancreatic enzymes lipase and colipase. Patients are otherwise healthy and develop normally with no apparent pancreatic disease. There have been no further descriptions in the literature since 1990.
Combined pancreatic lipase-colipase deficiency
Disorder of fatty acid oxidation and ketogenesis
Acyl-CoA dehydrogenase deficiency
3-hydroxyacyl-CoA dehydrogenase deficiency
Disorder of carnitine cycle and carnitine transport
Metabolic disease due to other fatty acid oxidation disorder
Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes
use http://www.orpha.net/ORDO/Orphanet_35696 with label: Mitochondrial disorder due to a defect in mitochondrial protein synthesis
OBSOLETE: Mitochondrial disorder due to a transcription or a translation defect of mitochondrial DNA
Gangliosidosis
Hyperalaninemia
Hyper-beta-alaninemia
Hexosaminidases A and B deficiency, infantile form
Infantile GM2 gangliosidosis 0 variant
Sandhoff disease, infantile form
Hexosaminidases A and B deficiency, juvenile form
Juvenile GM2 gangliosidosis 0 variant
Sandhoff disease, juvenile form
Adult GM2 gangliosidosis 0 variant
Hexosaminidases A and B deficiency, adult form
Sandhoff disease, adult form
GM2 gangliosidosis, B variant, infantile form
Hexosaminidase A deficiency, infantile form
Tay-Sachs disease, B variant, infantile form
GM2 gangliosidosis, B variant, juvenile form
Hexosaminidase A deficiency, juvenile form
Tay-Sachs disease, B variant, juvenile form
GM2 gangliosidosis, B variant, adult form
Hexosaminidase A deficiency, adult form
Tay-Sachs disease, B variant, adult form
Fixed subaortic stenosis (FSS) is a rare heart malformation characterized by the obstruction by membranous or fibromuscular tissue of the left ventricular outflow tract (LVOT) below the aortic valve, that occurs as an isolated lesion or in association with additional cardiac malformations (e.g. ventricular septal defect, patent ductus arteriosus, coarctation of the aorta), that presents in childhood with signs of LVOT obstruction (e.g. dyspnea, chest pain, syncope, palpitations) and that can potentially lead to life-threatening complications (e.g. aortic regurgitation, infective endocarditis). It comprises three anatomical subforms: discrete fixed membranous subaortic stenosis (membranous tissue encircling the LVOT), discrete fibromuscular subaortic stenosis (fibromuscular tissue encircling the LVOT) and tunnel subaortic stenosis (fibromuscular diffuse tunnel-like narrowing of the LVOT), the two latter forms being generally more severe than the membranous form.
Fixed subaortic stenosis
GM2 gangliosidosis, B1 variant
Hexosaminidase A deficiency, B1 variant
Tay-Sachs disease, B1 variant
HOMG1
HSH
Hypomagnesemia caused by selective magnesium malabsorption
Hypomagnesemia intestinal type 1
Intestinal hypomagnesemia with secondary hypocalcemia
PHSH
Primary hypomagnesemia with secondary hypocalcemia (PHSH) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by severe hypomagnesemia and secondary hypocalcemia associated with neurological symptoms, including generalized seizures, tetany and muscle spasms. PHSH may be fatal or may result in chronic irreversible neurological complications.
Primary hypomagnesemia with secondary hypocalcemia
Hexosaminidase activator deficiency
GM2 gangliosidosis, AB variant is an extremely rare, severe genetic disorder characterized by progressive neurological decline due to ganglioside activator deficiency.
GM2 gangliosidosis, AB variant
Hereditary CDI
Hereditary neurogenic diabetes insipidus
Hereditary central diabetes insipidus is a rare genetic subtype of central diabetes insipidus (CDI, see this term) characterized by polyuria and polydipsia due to a deficiency in vasopressin (AVP) synthesis.
Hereditary central diabetes insipidus
Atypical Gaucher disease due to saposin C deficiency
Arylsulfatase A deficiency, late infantile form
MLD, late infantile form
Metachromatic leukodystrophy, late infantile form
Arylsulfatase A deficiency, juvenile form
MLD, juvenile form
Metachromatic leukodystrophy, juvenile form
Arylsulfatase A deficiency, adult form
MLD, adult form
Metachromatic leukodystrophy, adult form
Glycoproteinosis
Lysosomal alpha-D-mannosidase deficiency, infantile form
Alpha-mannosidosis, infantile form
Lysosomal alpha-D-mannosidase deficiency, adult form
Alpha-mannosidosis, adult form
Sialidosis is a lysosomal storage disease, belonging to the group of oligosaccharidoses or glycoproteinoses, with a wide clinical spectrum that is divided into two main clinical subtypes: sialidosis type I (see this term), the milder, non dysmorphic form of the disease characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonus, that presents in adolescence or adulthood (second or third decade of life); and sialidosis type II (see this term) the more severe, early onset form, characterized by a progressive and severe mucopolysaccharidosis-like phenotype with coarse facies, visceromegaly, dysostosis multiplex, and developmental delay. Bilateral macular cherry red spots are also present. Sialidosis type II has been further divided into congenital (with hydrops fetalis), infantile and juvenile presentations.
Sialidosis
GALNS deficiency
Galactosamine-6-sulfatase deficiency
MPS4A
MPSIVA
Morquio disease type A
Mucopolysaccharidosis type IVA
N-acetylgalactosamine-6-sulfate sulfatase deficiency
Mucopolysaccharidosis type 4A
Congenital aortic valve stenosis
Beta-D-galactosidase deficiency
MPS4B
MPSIVB
Morquio disease type B
Mucopolysaccharidosis type IVB
Mucopolysaccharidosis type 4B
Disorder of sialic acid metabolism
Free sialic acid storage disease, infantile form
Intermediate severe Salla disease
Salla disease
Lysosomal glycogen storage disease
Disorder of lysosomal-related organelles
Disorder of protein N-glycosylation
Disorder of protein O-glycosylation
Disorder of O-xylosylglycan synthesis
Disorder of O-N-acetylgalactosaminylglycan synthesis
Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis
Disorder of O-mannosylglycan synthesis
Atypical RTT
Rett syndrome variant
Atypical Rett syndrome (atypical RTT) is a neurodevelopmental disorder that is diagnosed when a child presents with a Rett-like syndrome but does not fulfill all the diagnostic criteria for typical Rett syndrome (classic/typical RTT; see this term).
Atypical Rett syndrome
Disorder of fucoglycosan synthesis
Disorder of glycosphingolipid and GPI-anchored proteins glycosylation
Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation
Disorder of multiple glycosylation
Defect in COG complex
Defect in conserved oligomeric Golgi complex
Reye syndrome
Meacham-Winn-Culler syndrome
Rhabdomyomatous dysplasia-cardiopathy-genital anomalies syndrome
Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations.
Meacham syndrome
Defect in V-ATPase
Rhizomelic chondrodysplasia punctata type 1
Rhizomelic chondrodysplasia punctata type 2
Rhizomelic syndrome, Urbach type is a rare primary bone dysplasia characterized by upper limbs rhizomelia and other skeletal anomalies (e.g. short stature, dislocated hips, digitalization of the thumb with bifid distal phalanx), craniofacial features (e.g. microcephaly, large anterior fontanelle, fine and sparse scalp hair, depressed nasal bridge, high arched palate, micrognathia, short neck), congenital heart defects (e.g. pulmonary stenosis), delayed psychomotor development and mild flexion contractures of elbows. Radiologic evaluation may reveal flared epiphyses, platyspondyly and/or digital anomalies.
Rhizomelic syndrome, Urbach type
Rhizomelic chondrodysplasia punctata type 3
Disorder of peroxisomal alpha-, beta- and omega-oxidation
Disorder of porphyrin and haem metabolism
Disorder of bilirubin metabolism and excretion
Disorder of pterin metabolism
Disorder of metabolite absorption and transport
Disorder of vitamin and non-protein cofactor absorption and transport
Disorder of catecholamine synthesis
Disorder of other vitamins and cofactors metabolism and transport
Disorder of mineral absorption and transport
Disorder of copper metabolism
Disorder of iron metabolism and transport
Disorder of zinc metabolism and transport
Disorder of magnesium transport
Disorder of manganese transport
Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome
Acute rheumatic fever
Rheumatic fever (RF) is a multisystem inflammatory disease occurring as a post-infectious, nonsuppurative sequela of untreated streptococcus pyogenes (Group A streptococcus [GAS]) pharyngitis, and mainly occurs in individuals aged 5 to 15 years. The most common presenting signs are fever, migratory polyarthritis and carditis.
Rheumatic fever
Alpha-ketoglutarate dehydrogenase deficiency
Oxoglutaric aciduria is a very rare tricarboxylic acid cycle disorder (see this term), resulting from a deficiency in alpha-ketoglutarate dehydrogenase (one of the three subunits of the alpha-ketoglutarate dehydrogenase complex), that most often presents in the neonatal period with hypotonia, severe encephalopathy, extrapyramidal signs, pyramidal tract dysfunction and seizures and that frequently results in death in early childhood. Metabolic acidosis, elevated lactate and glutamate levels and variable degrees of glutaric aciduria are noted. Sudden death, myocardiopathy, and hepatic disorders have also been reported in some cases.
Oxoglutaricaciduria
Reflex epilepsy refers to epilepsies where recurrent seizures are provoked by a clearly defined extrinsic (most commonly) or intrinsic triggering stimuli such as flashing lights (photosensitive epilepsy), startling noises (startle epilepsy), urinating (micturition induced seizures), exposure to hot-water (hot water epilepsy, see these terms), eating, reading, and thinking, while being associated with an enduring abnormal predisposition to have such seizures (thereby meeting the conceptual definition of epilepsy).
Reflex epilepsy
JBTS18
TECT3
tectonic family member 3
Acquired immunodeficiency
Myotonia-intellectual disability-skeletal anomalies syndrome
Richieri Costa-da Silva syndrome is a rare, genetic, myotonic syndrome characterized by childhood onset of progressive and severe myotonia (with generalized muscular hypertophy and progressive impairment of gait), short stature, skeletal abnormalities (including pectus carinatum, short, wedge-shaped thoracolumbar vertebrae, kyphoscoliosis, genu valgum, irregular femoral epiphyses), and mild to moderate intellectual deficiency. No facial dysmorphism nor joint limitation is associated. There have been no further descriptions in the literature since 1984.
Richieri Costa-da Silva syndrome
Wnt family member 3A
DKK-1
dickkopf WNT signaling pathway inhibitor 1
Short stature-Pierre Robin sequence-cleft mandible-hand anomalies clubfoot syndrome
Short stature-Pierre Robin syndrome-cleft mandible-hand anomalies clubfoot syndrome
Richieri Costa-Pereira syndrome is characterized by short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies (including hypoplastic thumbs), and clubfoot. It has been described in 14 Brazilian families and in one unrelated French patient. Prominent low set ears and a highly arched palate were also observed. Transmission is autosomal recessive.
Richieri Costa-Pereira syndrome
SMAD family member 6
Pseudothalidomide syndrome
Roberts-SC phocomelia syndrome
SC phocomelia
SC pseudothalidomide syndrome
Roberts syndrome (RBS) is characterized by pre- and postnatal growth retardation, severe symmetric limb reduction defects, craniofacial anomalies and severe intellectual deficit. SC phocomelia is a milder form of RBS.
Roberts syndrome
Pierre Robin sequence-oligodactyly syndrome
Robin sequence-oligodactyly syndrome is a rare, genetic, developmental defect during embryogenesis syndrome characterized by Robin sequence (i.e. severe micrognathia, retroglossia and U-shaped cleft of the posterior palate) associated with pre- and postaxial oligodactyly. Facial features can include a narrow face and narrow lower dental arch. Clinodactyly, absent phalanx, metacarpal fusions, and hypoplastic carpals have also been reported. There have been no further descriptions in the literature since 1986.
Robin sequence-oligodactyly syndrome
AI2A4
amelogenesis imperfecta type IIA4
odontogenesis associated phosphoprotein
CBF1
IGKJRB
KBF2
RBP-J
RBPJK
SUH
Suppressor of hairless homolog (Drosophila)
recombination signal binding protein for immunoglobulin kappa J region
profilin 1
FHHNC without severe ocular involvement
Renal hypomagnesemia type 3
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (FHHN) is a form of familial primary hypomagnesemia (FPH; see this term), characterized by recurrent urinary tract infections, nephrolithiasis, bilateral nephrocalcinosis, renal magnesium (Mg) wasting, hypercalciuria and kidney failure.
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
KIR2.6
TTPP2
potassium voltage-gated channel subfamily J member 18
coiled-coil domain containing 78
AGO61
protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)
Saal-Greenstein syndrome
Robinow-like syndrome is characterized by the association of the clinical features present in Robinow syndrome (see this term; short stature, mesomelic brachymelia, macrocephaly, and hypoplastic genitalia), with anterior chamber cleavage anomalies. It has been described in two sisters and is transmitted as an autosomal recessive trait.
Robinow-like syndrome
Autosomal dominant Robinow syndrome (DRS) is the more common type of Robinow syndrome (RS, see this term) characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia.
Autosomal dominant Robinow syndrome
NMNAT
PNAT1
nicotinamide nucleotide adenylyltransferase 1
optic atrophy 2 (obscure)
MRKH syndrome
Rokitansky syndrome
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome describes a spectrum of Mullerian duct anomalies characterized by congenital aplasia of the uterus and upper 2/3 of the vagina in otherwise phenotypically normal females. It can be classified as either MRKH syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations) (see these terms).
Mayer-Rokitansky-Küster-Hauser syndrome
Rombo syndrome is characterized by vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, peripheral vasodilation with cyanosis and basal cell carcinomas.
Rombo syndrome
ZNT8
ZRC1
Zinc transporter 8
ZnT-10
solute carrier family 30 member 10
CD49c
GAP-B3
VCA-2
VLA3a
alpha 3 subunit of VLA-3 receptor
antigen CD49C
integrin subunit alpha 3
zeta
adaptor related protein complex 5 subunit zeta 1
cyclin and CBS domain divalent metal cation transport mediator 2
Hyperbilirubinemia, Rotor type
Rotor syndrome (RT) is a benign, inherited liver disorder characterized by chronic, predominantly conjugated, nonhemolytic hyperbilirubinemia with normal liver histology.
Rotor syndrome
homeobox B1
ALX homeobox 1
JAM-C
JAMC
junctional adhesion molecule 3
DFSP
Dermatofibrosarcoma protuberans (DFSP) is a rare infiltrating soft tissue sarcoma, generally of low grade malignancy, arising from the dermis of the skin and characteristically associated with a specific chromosomal translocation t(17;22).
Dermatofibrosarcoma protuberans
Fas-associating death domain-containing protein
Fas-associating protein with death domain
GIG3
Growth-inhibiting gene 3 protein
MORT1
Mediator of receptor-induced toxicity
Fas associated via death domain
SKI proto-oncogene
AKR6A5
HKvbeta2.1
HKvbeta2.2
KCNA2B
potassium voltage-gated channel subfamily A regulatory beta subunit 2
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_1509 with label: Coxopodopatellar syndrome
Patella aplasia-coxa vara-tarsal synostosis syndrome
TENT6
TUTase1
mtPAP
mitochondrial poly(A) polymerase
immediate early response 3 interacting protein 1
dystonia 21, torsion (autosomal dominant)
CFAP39
PMCA3
Plasma membrane calcium-transporting ATPase 3
cilia and flagella associated protein 39
ATPase plasma membrane Ca2+ transporting 3
Oral erosive lichen
RAB33B, member RAS oncogene family
ERIC1
transforming acidic coiled-coil containing protein 3
transforming acidic coiled-coil containing protein 1
Hereditary areflexic dystasia, Roussy-Lévy type
Roussy-Lévy syndrome
ATP-binding cassette transporter A1 deficiency
Analphalipoproteinemia
Defective adenosine triphosphate-binding cassette transporter A1
Tangier disease (TD) is a rare lipoprotein metabolism disorder characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL), and clinically by liver, spleen, lymph node and tonsil enlargement along with peripheral neuropathy in children and adolescents, and, occasionally, cardiovascular disease in adults.
Hypoalphalipoproteinemia
Hypobetalipoproteinemia (HBL) constitutes a group of lipoprotein metabolism disorders that are characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol.
Hypobetalipoproteinemia
ARA70
ELE1
PTC3
RET-activating gene ELE1
RFG
nuclear receptor coactivator 4
collagen type XIV alpha 1 chain
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_798 with label: Schinzel-Giedion syndrome
BCIE
Bullous congenital ichthyosiform erythroderma
Bullous congenital ichthyosiform erythroderma of Brock
Bullous ichthyosis
EHK
Epidermolytic hyperkeratosis
Ichthyosis hystrix Brocq type
Epidermolytic ichthyosis (EI) is a rare keratinopathic ichthyosis (KPI; see this term), that is characterized by a blistering phenotype at birth which progressively becomes hyperkeratotic.
Autosomal dominant epidermolytic ichthyosis
, also called Whitmore bacillus. The infection can be acute, subacute, or chronic and affects the skin, the lungs, or the whole body.
Melioidosis
Nocardiosis is a local (skin, lung, brain) or disseminated (whole body) acute, subacute, or chronic bacterial infection.
Nocardiosis
-infected rats and characterized by high fever, a rash on the extremities, and arthralgia.
Rat-bite fever
Ruvalcaba syndrome is an extremely rare malformation syndrome, described in less than 10 patients to date, characterized by microcephaly with characteristic facies (downslanting parpebral fissures, microstomia, beaked nose, narrow maxilla), very short stature, narrow thoracic cage with pectus carinatum, hypoplastic genitalia and skeletal anomalies (i.e. characteristic brachydactyly and osteochondritis of the spine) as well as intellectual and developmental delay.
Ruvalcaba syndrome
use http://www.orpha.net/ORDO/Orphanet_166282 with label: Familial sick sinus syndrome
OBSOLETE: Sinus node disease-myopia syndrome
Hyperlysinemia type II
Saccharopine dehydrogenase deficiency
Saccharopinuria is a disorder of lysine metabolism associated with hyperlysinaemia and lysinuria.
Saccharopinuria
branched chain ketoacid dehydrogenase kinase
Sarcosine dehydrogenase complex deficiency
Sarcosinemia is a metabolic disorder characterized by an increased concentration of sarcosine in plasma and urine due to sarcosine dehydrogenase deficiency.
Sarcosinemia
Classic lamellar ichthyosis
Congenital lamellar ichthyosis
Lamellar ichthyosis (LI) is a keratinization disorder characterized by the presence of large scales all over the body without significant erythroderma.
Lamellar ichthyosis
Komuragaeri disease
Satoyoshi syndrome is a rare, multisystemic autoimmune disease mainly characterized by intermittent painful muscle spasms, alopecia (totalis or universalis in most cases) and long-lasting diarrhea that could lead to malnutrition, growth retardation, and amenorrhea. Secondary bone deformities and various endocrine anomalies may also be associated. Antinuclear antibodies are reported in many cases.
Satoyoshi syndrome
Microcephaly-hypogammaglobulinemia-abnormal immunity syndrome
Say-Barber-Miller syndrome is characterised by the association of unusual facial features, microcephaly, developmental delay, and severe postnatal growth retardation.
Say-Barber-Miller syndrome
Triphalangeal thumbs-dislocation of patella syndrome
Say-Field-Coldwell syndrome is characterised by triphalangeal thumbs, brachydactyly, camptodactyly, recurrent dislocation of the patellas and relatively short stature. It has been described in a mother and her three daughters.
Say-Field-Coldwell syndrome
SCARF syndrome is characterised by the association of skeletal abnormalities, cutis laxa, craniostenosis, ambiguous genitalia, psychomotor retardation and facial abnormalities. So far, it has been described in two males (maternal first cousins). The mode of inheritance was suggested to be X-linked recessive.
SCARF syndrome
Familial Scheuermann juvenile kyphosis
Familial spinal osteochondrosis
Familial Scheuermann disease is characterized by kyphotic deformity of the spine that develops in adolescence. The spinal deformity includes irregularities of the vertebral endplates, the presence of Schmorl's nodes, disk-space narrowing, and vertebral wedging and is diagnosed using lateral radiographs of the spine. The thoracic spine is most often affected, but the lumbar spine may also be involved. Analysis of the mode of inheritance in a sample of 90 pedigrees derived from the Siberian population supported an autosomal dominant mode of inheritance with complete penetrance in boys and incomplete penetrance in girls.
Familial Scheuermann disease
NAGA deficiency
Schindler disease
Alpha-N-acetylgalactosaminidase (NAGA) deficiency is a very rare lysosomal storage disease that is clinically and pathologically heterogeneous and is characterized by deficient NAGA activity.
Alpha-N-acetylgalactosaminidase deficiency
AFG3L2-related spastic ataxia-myoclonic epilepsy-neuropathy syndrome
Autosomal recessive spastic ataxia type 5
Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome is a rare hereditary spastic ataxia disorder characterized by childhood onset of slowly progressive lower limb spastic paraparesis and cerebellar ataxia (with dysarthria, swallowing difficulties, motor degeneration), associated with sensorimotor neuropathy (including muscle weakness and distal amyotrophy in lower extremities) and progressive myoclonic epilepsy. Ocular signs (ptosis, oculomotor apraxia), dysmetria, dysdiadochokinesia, dystonic movements and myoclonus may also be associated.
Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome
20p subtelomeric deletion syndrome
Del(20)(p13)
Monosomy 20p13
20p13 microdeletion syndrome is a rare chromosomal anomaly characterized by developmental delay, mild to moderate intellectual disability, epilepsy, and unspecific dysmorphic signs. High palate, delayed permanent tooth eruption, hypoplastic fingernails, clinodactyly and short fingers have also been reported.
20p13 microdeletion syndrome
Jawad syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly wih facial dysmorphism (sloping forehead, prominent nose, mild retrognathia), moderate to severe, non-progressive intellectual disability and symmetrical digital malformations of variable degree, including brachydactyly of the fifth fingers with single flexion crease, clinodactyly, syndactyly, polydactyly and hallux valgus. Congenital anonychia and white café au lait-like spots on the skin of hands and feet are also associated.
Jawad syndrome
Pallister ulnar-mammary syndrome
Schinzel syndrome
UMS
Ulnar-mammary syndrome (UMS) is a rare developmental disorder characterized by ulnar defects, mammary and apocrine gland hypoplasia and genital anomalies. Delayed puberty dental anomalies, short stature and obesity have also been described.
Ulnar-mammary syndrome
Optic nerve edema-splenomegaly syndrome is a rare presumably genetic disorder characterized by idiopathic massive splenomegaly with pancytopenia and childhood-onset chronic optic nerve edema with slowly progressive vision loss. Additional reported features include anhidrosis, urticaria and headaches.
Optic nerve edema-splenomegaly syndrome
ALSP
Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
Autosomal dominant leukoencephalopathy with neuroaxonal spheroids
FPSG
Familial dementia, Neumann type
Familial progressive subcortical gliosis
GPSC
HDLS
Hereditary diffuse leukoencephalopathy with spheroids
POLD
Pigmentary orthochromatic leukodystrophy
Subcortical gliosis of Neumann
Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia is a rare autosomal dominant disease characterized by a complex phenotype including progressive dementia, apraxia, apathy, impaired balance, parkinsonism, spasticity and epilepsy.
Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia
Early B-cell factor associated zinc finger protein
Ebfaz
JBTS19
KIAA0760
NPHP14
OAZ
OLF-1/EBF associated zinc finger gene
Roaz
Smad- and Olf-interacting zinc finger protein
Zfp104
hOAZ
zinc finger protein 423
KIAA1052
NPHP15
centrosomal protein 164
CRMCC
Cerebroretinal microangiopathy with calcifications and cysts
Coats plus syndrome is a pleiotropic multisystem disorder characterized by retinal telangiectasia and exudates, intracranial calcification with leukoencephalopathy and brain cysts, osteopenia with predisposition to fractures, bone marrow suppression, gastrointestinal bleeding and portal hypertension. It is transmitted as an autosomal recessive disease.
Coats plus syndrome
Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome is a rare, inherited cancer-predisposing syndrome characterized by an early development of cutaneous telangiectasia, mild dental and nail anomalies, patchy alopecia over the affected skin areas and increased lifetime risk for oropharyngeal cancer. Other types of cancer have also been reported.
Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome
Infantile cerebellar-retinal degeneration is a rare, neurodegenerative disorder characterized by an early onset of truncal hypotonia, variable forms of seizures, athetosis, severe global developmental delay, intellectual disability and various ophthalmologic abnormalities, including strabismus, nystagmus, optic atrophy and retinal degeneration.
Infantile cerebellar-retinal degeneration
Perinatal lethal bent bone dysplasia
FGFR2-related bent bone dysplasia is a rare, genetic, lethal, primary bone dysplasia characterized by dysmorphic craniofacial features (low-set, posteriorly rotated ears, hypertelorism, megalophtalmos, flattened and hypoplastic midface, micrognathia), hypomineralization of the calvarium, craniosynostosis, hypoplastic clavicles and pubis, and bent long bones (particularly involving the femora), caused by germline mutations in the FGFR2 gene. Prematurely erupted fetal teeth, osteopenia, hirsutism, clitoromegaly, gingival hyperplasia, and hepatosplenomegaly with extramedullary hematopoesis may also be associated.
FGFR2-related bent bone dysplasia
Monosomy 12p12.1
12p12.1 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome 12, characterized by intellectual disability, global developmental delay with prominent language impairment, behavioral abnormalities and mild facial dysmorphism (incl. frontal bossing, downslanting palpebral fissures, epicanthal folds, broad, depressed nasal bridge with bulbous nasal tip, low-set ears with underdeveloped helices). Other associated features may include skeletal abnormalities (butterfly vertebrae, scoliosis), strabismus, optic nerve hypoplasia, and brain malformations.
12p12.1 microdeletion syndrome
Developmental and speech delay due to SOX5 deficiency is a rare genetic syndromic intellectual disability characterized by mild to severe global developmental delay, intellectual disability and behavioral abnormalities, hypotonia, strabismus, optic nerve hypoplasia and mild facial dysmorphic features (down slanting palpebral fissures, frontal bossing, crowded teeth, auricular abnormalities and prominent philtral ridges). Other associated clinical features may include seizures and skeletal anomalies (kyphosis/scoliosis, pectus deformities).
Developmental and speech delay due to SOX5 deficiency
Neonatal congenital pancreatic cyst
True congenital pancreatic cyst
Congenital pancreatic cyst
EBV-associated gastric carcinoma
EBVaGC
Epstein-Barr virus (EBV)-associated gastric carcinoma (EBVaGC) is a rare form of gastric carcinoma (seen in approximately 10% of cases) with a male predominance, characterized by a latent EBV infection in gastric carcinoma cells, diffuse-type histology, a proximal location (in the body and cardia of the stomach) and a relatively favorable prognosis.
Epstein-Barr virus-associated gastric carcinoma
Papular epidermal nevi with skyline basal cell layers syndrome
PENS syndrome is a rare, genetic, neurocutaneous syndrome characterized by the presence of randomly distributed, small, white to yellowish, multiple, rounded or irregular polycyclically-shaped, epidermal keratotic papules and plaques of ''gem-like'' appearance with a rough surface, typically located on the trunk and proximal limbs, associated with variable neurological abnormalities, including psychomotor delay, epilepsy, speech and language impairment and attention deficit-hyperactivity disorder. Clumsiness, dyslexia and oftalmological abnormalities have also been reported.
PENS syndrome
Trisomy 2q23.1
2q23.1 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 2, primarily characterized by global developmental delay, hypotonia, autistic-like features and behavioural problems. Craniofacial dysmorphism (arched eyebrows, hypertelorism, bilateral ptosis, prominent nose, wide mouth, micro/retrognathia) and an affable personality are also commonly associated. Minor digital anomalies (fifth finger clinodactyly and large, broad first toe) have occasionally been reported.
2q23.1 microduplication syndrome
Leiner disease
Erythroderma desquamativum
Dinno syndrome
Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome is an extremely rare, multiple congenital anomalies/dysmorphic syndrome characterized by micrognathia, a short, webbed neck, hypoplastic nipples and joint contractures (which improve over time) of the knees and elbows. In addition, sloping shoulders, mild to moderate hearing loss, mild speech impairment and facies with hypertelorism, short philtrum and tented upper lip may be associated.
Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome
Idiopathic linear interstitial keratitis is a rare, acquired ocular disease characterized by migratory or non-migratory, horizontal, linear, stromal infiltrates that may heal spontaneously. Minimal vascularization and scarring may be observed but vision loss is not associated.
Idiopathic linear interstitial keratitis
Familial fundic gland polyposis with gastric cancer
GAPPS
Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) is a rare hereditary gastric cancer characterized by proximal gastric polyposis and increased risk of early-onset, intestinal-type adenocarcinoma of the gastric body, with no duodenal or colorectal polyposis.
Gastric adenocarcinoma and proximal polyposis of the stomach
High bone mass OI
High bone mass osteogenesis imperfecta is a rare, genetic, primary bone dysplasia disorder characterized by increased bone fragility, manifesting with mutiple, childhood-onset, vertebral and peripheral fractures, associated with increased bone mass density on radiometric examination. Patients typically present normal or mild short stature and dentinogenesis, hearing, and sclerae are commonly normal.
High bone mass osteogenesis imperfecta
Trisomy 7p22.1
7p22.1 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial microduplication of the short arm of chromosome 7, characterized by intellectual disability, psychomotor and speech delays, craniofacial dysmorphism (including macrocephaly, frontal bossing, hypertelorism, abnormally slanted palpebral fissures, anteverted nares, low-set ears, microretrognathia) and cryptorchidia. Cardiac (e.g., patent foramen ovale and atrial septal defect), as well as renal, skeletal and ocular abnormalities may also be associated.
7p22.1 microduplication syndrome
Marfanoid habitus-inguinal hernia-advanced bone age syndrome is a very rare developmental defect with connective tissue involvement disorder characterized by tall stature, inguinal hernia, facial dysmorphism (including a long, triangular face, prominent forehead, telecanthus, downslanting palpebral fissures, bilateral ptosis, everted lower eyelids, large ears, long nose, full, everted vermilions, narrow and high arched palate, dental crowding), and radiologic evidence of advanced bone age. Additional manifestations include hyperextensible joints, long digits, mild muscle weakness, myopia, and foot deformities (i.e. hallux valgus, talipes equinovarus).
Marfanoid habitus-inguinal hernia-advanced bone age syndrome
COXPD12
Combined oxidative phosphorylation defect type 12
LTBL
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate (LTBL) syndrome is a rare, genetic neurological disorder defined by early-onset of neurologic symptoms, biphasic clinical course, unique MRI features (incl. extensive, symmetrical, deep white matter abnormalities), and increased lactate in body fluids. The severe form is characterized by delayed psychomotor development, seizures, early-onset hypotonia, and persistently increased lactate levels. The mild form usually presents with irritability, psychomotor regression after six months of age, and temporary high lactate levels, with overall clinical improvement from the second year onward.
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
APS type 2
APS2
Autoimmune polyendocrine syndrome type 2
Autoimmune polyglandular syndrome type 2
Autoimmune thyroid disease and/or type 1 diabetes-Addison disease syndrome
Schmidt syndrome
Autoimmune polyendocrinopathy type 2 is a rare, endocrine disease characterized by autoimmune Addison disease associated with autoimmune thyroid disease or type I diabetes mellitus, or both, and without chronic candidiasis. Additional endocrine (hypogonadism, hypoparathyroidism) and non-endocrine diseases (vitiligo, autoimmune hepatitis, autoimmune gastritis, pernicious anemia, and myasthenia gravies) may be present.
Autoimmune polyendocrinopathy type 2
Chronic diarrhea due to guanylate cyclase 2C overactivity
Meconium ileus due to guanylate cyclase 2C deficiency
gene (12p12) leading to marked reduction or absence of enzymatic activity of guanylate cyclase 2C were found in the affected patients. The disease was reported to show partial penetrance.
Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency
Familial dysautonomia with contractures
HSAN6
Hereditary sensory and autonomic neuropathy type VI
Hereditary sensory and autonomic neuropathy type 6
Xq12-q13.3 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome X, characterized by global developmental delay, autistic behavior, microcephaly and facial dysmorphism (including down-slanting palpebral fissures, depressed nasal bridge, anteverted nares, long philtrum, down-slanting corners of the mouth). Seizures have also been reported in some patients.
Xq12-q13.3 duplication syndrome
SOFT syndrome
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome is a rare, genetic, primary bone dysplasia disorder characterized by severe pre- and post-natal short stature, facial dysmorphism (incl.dolicocephaly, long triangular face, tall forehead, down-slanting palpebral fissures, prominent nose, long philtrum, small ears), early-onset or postpubertal sparse, short hair and hypoplastic fingernails. Small hands with tapering fingers, bracydactyly and fifth-finger clinodactyly, as well as a high-pitched voice are also associated.
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
Autosomal dominant aplastic anemia and myelodysplasia
Autosomal dominant aplasia and myelodysplasia is a rare, genetic, hematologic disorder characterized by bone marrow failure which manifests with aplastic anemia and/or myelodysplasia, associated with hearing/ear abnormalities (such as deafness, labyrinthitis), inherited in an autosomal dominant manner.
Autosomal dominant aplasia and myelodysplasia
Chondrodysplasia with snail-like pelvis
SLC35D1-CDG
Schneckenbecken dysplasia (or chondrodysplasia with snail-like pelvis) is a prenatally lethal spondylodysplastic dysplasia.
Schneckenbecken dysplasia
ADCA-DN syndrome
Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is a polymorphic disorder and a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia.
Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome
Ameloblastoma is a rare, benign, slow-growing odontologic tumor located in the mandible, and on occasion the maxilla, characterized by painless, variable-sized jaw swelling, which if left untreated may lead to a grotesque facial appearance. Occasionally, paresthesias, tooth displacement and adjacent root resorption may be associated. Local invasion is frequently observed, but malignant transformation and metastasis are not common.
Ameloblastoma
Ameloblastic carcinoma is a rare odontogenic tumor characterized by aggressive clinical course and local destruction, occurring in mandible more often than in maxilla. The most common symptom is a rapidly progressing painful swelling, but it may present as a benign cystic lesion or as a large, rapidly growing mass with ulceration, bone resorption and teeth mobility, as well. The tumor may metastasize, most commonly to the cervical lymph nodes and the lungs.
Ameloblastic carcinoma
Rare odontogenic tumor
Spigelian hernia-cryptorchidism syndrome is a rare developmental defect during embryogenesis characterized by a ventral, uni- or bilateral protrusion of extraperitoneal fat, peritoneum and/or intra-abdominal organs through a defect in the spigelian fascia (Spigelian hernia), associated with ipsi- or bilateral undescended testis (usually found within or just beneath the hernial sac) in male neonates. The gubernaculum and/or inguinal canal may be absent.
Spigelian hernia-cryptorchidism syndrome
Demons-Meigs syndrome
Meigs syndrome is a rare neoplastic disease characterized by the clinical triad of benign ovarian tumor (typically, ovarian fibroma or fibroma-like tumor), hydrothorax and ascites, which resolve after tumor resection. Patients usually present with dyspnea, pelvic mass with or without a tender, distended abdomen and/or weight loss.
Meigs syndrome
Pseudo-Demons-Meigs syndrome
Pseudo-Meigs syndrome is a rare neoplastic disease characterized by the presence of a benign or malignant, pelvic or abdominal tumor (other than ovarian fibroma or fibroma-like and localized outside of the ovaries, fallopian tubes, and broad ligaments) associated with hydrothorax and ascites that resolve after tumor resection. Patients usually present with dyspnea, pelvic mass with or without a tender, distended abdomen and/or weight loss.
Pseudo-Meigs syndrome
Atypical Demons-Meigs syndrome
Incomplete Meigs syndrome
Atypical Meigs syndrome is a rare benign ovarian tumor characterized by a benign pelvic mass associated with right-sided pleural effusion, but without ascites. The pleural effusion resolves after resection of the tumor.
Atypical Meigs syndrome
Ovarian fibroma
10cm) are often associated with pleural effusion and ascites (the Meig's syndrome triad).
Ovarian fibrothecoma
Autosomal recessive distal spinal muscular atrophy type 5
Young adult-onset dHMN
dSMA5
Young adult-onset distal hereditary motor neuropathy is a rare autosomal recessive distal hereditary motor neuropathy characterized by slowly progressive muscular weakness, hypotonia and atrophy of the lower limbs, more pronounced distally, leading to paralysis, and loss of tendon reflexes. Additional features may include pes cavus and mild dysphonia. The upper limbs are relatively spared.
Young adult-onset distal hereditary motor neuropathy
Schofer-Beetz-Bohl syndrome
This syndrome is characterised by nephrogenic diabetes insipidus, intracerebral calcifications, intellectual deficit, short stature and facial dysmorphism.
Nephrogenic diabetes insipidus-intracranial calcification syndrome
Hamamy syndrome
Craniofacial dysplasia-osteopenia syndrome is a rare, genetic developmental defect during embryogenesis disorder characterized by craniofacial dysmorphism (incl. brachycephaly, prominent forehead, sparse lateral eyebrows, severe hypertelorism, upslanting palpebral fissures, epicanthal folds, protruding ears, broad nasal bridge, pointed nasal tip, flat philtrum, anteverted nostrils, large mouth, thin upper vermilion border, highly arched palate and mild micrognathia) associated with osteopenia leading to repeated long bone fractures, severe myopia, mild to moderate sensorineural or mixed hearing loss, enamel hypoplasia, sloping shoulders and mild intellectual disability.
Craniofacial dysplasia-osteopenia syndrome
PPAOS
Primary progressive apraxia of speech is a rare neurodegenerative disease characterized by impaired planning or programming of the movements for speech, leading to phonetically and prosodically abnormal speech, in absence, at onset, of any other neurological features (such as aphasia, memory loss, pyramidal signs). Patients usually present articulatory distortions/groping, slow rate, distorted sound substitutions and/or trial and error articulatory movements which begin insiduously and worsen over time.
Primary progressive apraxia of speech
Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome is a rare neurologic disease characterized by global developmental delay, intellectual disability, multiple ischemic lesions in brain MRI, behavioral abnormalities, dystonia, choreic movements and pyramidal syndrome, facial dysmorphism (hypertelorism, arched palate, macroglossia), retinitis pigmentosa, scoliosis, seizures.
Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome
Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (brachycephaly resulting from craniosynostosis, frontal bossing, downslanting palpebral fissures, large and low-set ears, depressed nasal bridge, high-arched, wide palate, thin upper lip), impaired neurological development with intellectual disability, hypotonia, pyloric stenosis, pectus excavatum, bilateral cryptorchidism and short stature.
Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome
15q overgrowth syndrome is a rare partial autosomal trisomy/tetrasomy characterized by facial dysmorphism (long thin face, prominent forehead, down-slanting palpebral fissures, prominent nose with broad nasal bridge, prominent chin), pre- and postnatal overgrowth, renal anomalies (e.g. horseshoe kidney, renal agenesis, hydronephrosis), mild to severe learning difficulties and behavioral abnormalities. Additional features may include craniosynostosis and macrocephaly.
15q overgrowth syndrome
Tetrasomy 15(q25-qter)
Tetrasomy 15q26
Distal tetrasomy 15q
Chudley-McCullough syndrome is a rare, genetic, syndromic deafness characterized by severe to profound, bilateral, sensorineural hearing loss (congenital or rapidly progressive in infancy) associated with a complex brain malformation including hydrocephalus, varying degrees of partial corpus callosum agenesis, colpocephaly, cerebral and cerebellar cortical dysplasia (bilateral medial frontal polymicrogyria, bilateral frontal subcortical heteropia) and, in some, arachnoid cysts. Major physical abnormalities or psychomotor delay are usually not associated.
Chudley-McCullough syndrome
ARSAL
Autosomal recessive spastic ataxia type 3
SPAX3
Autosomal recessive spastic ataxia with leukoencephalopathy
Growing teratoma syndrome
DPG-plus syndrome
Duplication of the pituitary gland-plus syndrome
Hypophyseal duplication
Duplication of the pituitary gland is a rare midline cerebral malformation disorder characterized by duplicated pituitary stalks and/or glands within duplicated sella. Patients may present various degrees of facial dysmorphism and endocrine abnormalities, including precocious puberty, hypogonadism, hypothyroidism and/or hyperprolactinemia, as well as associated congenital anomalies, such as clift lip/palate, bifid nasal bridge/tongue/uvula, hypothalamic enlargement with or without hamartoma, nasopharyngeal tumors, corpus callosum agenesis/hypoplasia, basilar artery duplication, and/or vertebral defects (in particular, duplication of the odontoid process).
Duplication of the pituitary gland
CLN11 disease
CLN12 disease
Juvenile parkinsonism-neuronal ceroid lipofuscinosis
ATP13A2-related juvenile neuronal ceroid lipofuscinosis
COXPD10
Combined oxidative phosphorylation defect type 10
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency is a rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by lactic acidosis, hypotonia, hypertrophic cardiomyopathy and global developmental delay. Other clinical features include feeding difficulties, failure to thrive, seizures, optic atrophy and ataxia.
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
Non-progressive cerebellar ataxia with intellectual deficit is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin).
Non-progressive cerebellar ataxia with intellectual disability
Autosomal dominant beta2-microglobulinic amyloidosis
#946;2M) leading to progressive gastrointestinal dysfunction, Sjögren syndrome (see this term) and autonomic neuropathy.
Variant ABeta2M amyloidosis
5q31.3 microdeletion syndrome
Monosomy 5q31.3
Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion
Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
CDG syndrome type IIk
CDG-IIk
CDG2K
Carbohydrate deficient glycoprotein syndrome type IIk
Congenital disorder of glycosylation type 2k
Congenital disorder of glycosylation type IIk
TMEM165-CDG
Van Maldergem syndrome
Cerebrofacioarticular syndrome is a rare multiple congenital anomalies syndrome characterized by mild to severe intellectual disability, a distinctive facial gestalt (blepharophimosis, maxillary hypoplasia, telecanthus, microtia and atresia of the external auditory meatus) as well as skeletal and articular abnormalities (e.g. camptodactyly of the fingers, cutaneous syndactyly, talipes equinovarus, flexion contractures of the proximal interphalangeal joints, hip or elbow subluxation, joint laxity). Affected individuals also present neonatal hypotonia, variable respiratory manifestations, chronic feeding difficulties and gray matter heterotopia.
Cerebrofacioarticular syndrome
Primary bone lymphoma is a rare lymphoid hemopathy defined as single or multiple tumors in the bone, not associated with infringement or violation of other extranodal malignant lymph nodes outside the area. It usually presents with bone pain, nerve compression, a palpable mass or fracture, while systemic features (fever, night sweats, fatigue, loss of appetite, weight loss) are not common.
Primary bone lymphoma
CID due to STK4 deficiency
Combined immunodeficiency due to STK4 deficiency is a rare, genetic combined T and B cell immunodeficiency characterized by T- and B-cell lymphopenia, hypergammaglobulinemia and intermittent neutropenia. It presents with recurrent opportunistic viral, bacterial and fungal infections involving skin (cutaneous papillomatosis, molluscum contagiosum, skin abscesses, mucocutaneous candidiasis), upper and lower respiratory tract or septicemia. Other clinical features include autoimmune manifestations (autoimmune hemolytic anemia) and congenital heart defects (atrial septal defects, patent foramen ovale, mitral, triscupid and pulmonary valve insufficiency).
Combined immunodeficiency due to STK4 deficiency
Acquired porencephaly
Systemic AL amyloidosis
Primary systemic amyloidosis (PSA) is a form of AL amyloidosis (see this term) caused by the aggregation and deposition of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor (see this term) and characterized by multiple organ involvement.
Primary systemic amyloidosis
Localized AL amyloidosis
Primary localized amyloidosis is a form of AL amyloidosis (see this term) caused by the aggregation of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor (see this term) and characterized by localized amyloid deposition with clinical manifestations restricted to the organ involved, most frequently urinary tract (bladder), eye, respiratory tract (larynx, lungs), and skin.
Primary localized amyloidosis
Lethal arteriopathy syndrome due to fibulin-4 deficiency is a rare, genetic, vascular disorder characterized by severe aneurysmal dilatation, elongation, and tortuosity of the thoracic aorta, its branches and pulmonary arteries with stenosis at various typical locations, typically resulting in infantile demise. Variable associated features may include cutis laxa, long philtrum with thin vermillion border, hypertelorism, sagging cheeks, arachnodactyly, joint laxity and pectus deformities.
Lethal arteriopathy syndrome due to fibulin-4 deficiency
Dentin dysplasia type 1 with microdontia and shape anomalies
Atypical dentin dysplasia due to SMOC2 deficiency
MT1-MMP
Membrane type 1 metalloprotease
matrix metallopeptidase 14
Rare disease with Cushing syndrome as a major feature
Endocrine active pituitary adenoma
Secreting pituitary adenoma
Functioning pituitary adenoma
Mixed secreting pituitary adenoma
Mixed functioning pituitary adenoma
GH and PRL cosecreting pituitary adenoma
Growth hormone and prolactin cosecreting pituitary adenoma
Somatolactotropinoma
Somatoprolactinoma
Somatomammotropinoma is a rare, mixed, functioning pituitary adenoma characterized by the cosecretion of growth hormone and prolactin, which manifests with signs and symptoms of both acromegaly and hyperprolactinemia.
Somatomammotropinoma
FIPA
Familial isolated pituitary adenoma
Silent pituitary adenoma
Null pituitary adenoma
SHOX-related short stature is a primary bone dysplasia characterized by a height that is 2 standard deviations below the corresponding mean height for a given age, sex and population group, in the absence of obvious skeletal abnormalities and other diseases and with normal developmental milestones. Patients present normal bone age with normal limbs, shortening of the extremities (significantly lower extremities-trunk and sitting height-to-height ratios), normal hGH values, normal karyotype, and Leri-Weill dyschondrosteosis-like radiological signs (e.g. triangularization of distal radial epiphyses, pyramidalization of distal carpal row, and lucency of the distal radius on the ulnar side). Mesomelic disproportions and Madelung deformity are not apparent at a young age, but may develop later in life or never.
SHOX-related short stature
MPNST
Malignant neurilemmoma
Malignant neurofibroma
Malignant schwannoma
Neurofibrosarcoma
Neurogenic sarcoma
Malignant peripheral nerve sheath tumor (MPNST) is a rare and often aggressive soft tissue sarcoma occurring in a wide range of anatomical sites.
Malignant peripheral nerve sheath tumor
Short stature due to partial growth hormone receptor deficiency
Short stature due to partial GHR deficiency is a rare, genetic, endocrine disease characterized by idiopathic short stature due to diminished GHR function (decreased ligand binding or reduced availability of receptor), thus resulting in partial insensitivity to growth hormone.
Short stature due to partial GHR deficiency
Ghrelin receptor deficiency
Short stature due to growth hormone secretagogue receptor deficiency
Short stature due to GHSR deficiency is a rare, genetic, endocrine growth disease, resulting from growth hormone secretagogue receptor (GHSR) deficiency, characterized by postnatal growth delay that results in short stature (less than -2 SD). The pituitary gland is typically without morphological changes, although anterior pituitary gland hypoplasia has been reported.
Short stature due to GHSR deficiency
Primary renal tubular acidosis
AD pRTA
Autosomal dominant proximal renal tubular acidosis (AD pRTA) is a form of proximal renal tubular acidosis (pRTA; see this term) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequently causing urinary bicarbonate wastage. Mild growth retardation and reduced bone density are extra-renal complications.
Autosomal dominant proximal renal tubular acidosis
VAMP-1
vesicle associated membrane protein 1
Infantile Canavan disease
Neonatal Canavan disease
Severe Canavan disease (CD) is a rapidly progressing neurodegenerative disorder characterized by leukodystrophy with macrocephaly, severe developmental delay and hypotonia.
Severe Canavan disease
Juvenile Canavan disease
Mild Canavan disease (CD) is a neurodegenerative disorder characterized by mild speech delay or motor development.
Mild Canavan disease
Chronic adult hydrocephalus
NPH
Normal pressure hydrocephalus
TSP-EAR
thrombospondin type laminin G domain and EAR repeats
Mycobacterium xenopi infection
Clonal hypereosinophilic syndrome
HES-M
HES-N
Neoplastic hypereosinophilic syndrome
Primary HES
Primary hypereosinophilic syndrome
HES-R
Reactive hypereosinophilic syndrome
Secondary HES
Secondary hypereosinophilic syndrome
HES-L
Lymphocytic variant HES
Lymphoid HES
Lymphocytic hypereosinophilic syndrome
SCAX5
X-linked spinocerebellar ataxia type 5
X-linked non progressive cerebellar ataxia is a rare hereditary ataxia characterized by delayed early motor development, severe neonatal hypotonia, non-progressive ataxia and slow eye movements, presenting normal cognitive abilities and absence of pyramidal signs. Frequently patients also manifest intention tremor, mild dysphagia, and dysarthria. Brain MRI reveals global cerebellar atrophy with absence of other malformations or degenerations of the central and peripheral nervous systems.
X-linked non progressive cerebellar ataxia
Cataract-congenital heart disease-neural tube defect syndrome is a multiple congenital anomaly syndrome characterized by sacral neural tube defects resulting in tethered cord, atrial and/or ventricular septal heart defects (that are detected in infancy), bilateral, symmetrical hyperopia, rapidly progressive early childhood cataracts, bilateral aphakic glaucoma, and abnormal facial features (low frontal hairline, small ears, short philtrum, prominent, widely spaced central incisors, and micrognathia). Hypotonia, growth and developmental delay, seizures, and joint limitation are also reported.
Cataract-congenital heart disease-neural tube defect syndrome
Degos genodermatosis "en cocardes"
Erythrokeratoderma 'en cocardes' is a rare genodermatosis characterised by circumscribed target-like (or 'en cocardes') erythematous hyperkeratotic lesions. These lesions, which remit and recur, affect the trunk and extremities and are accompanied by scaly plaques evocative of erythrokeratoderma variabilis (see this term). Onset usually occurs at birth or during early childhood. Only few cases have been described. Transmission is autosomal dominant.
Erythrokeratoderma ''en cocardes''
Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome is characterized by the association of multiple sclerosis with lamellar ichthyosis (see this term) and hematological anomalies (beta thalassemia minor and a quantitative deficit of factor VIII-von Willebrand complex). Other clinical manifestations may include eye involvement (optic atrophy, diplopia), neuromuscular involvement (ataxia, pyramidal syndrome, gait disturbance) and sensory disorder. There have been no further descriptions in the literature since 1992.
Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome
Cortical hyperostosis-syndactyly syndrome
Sclerosteosis is a very rare serious sclerosing hyperostosis syndrome characterized clinically by variable syndactyly and progressive skeletal overgrowth (particularly of the skull), resulting in distinctive facial features (mandibular overgrowth, frontal bossing, midfacial hypoplasia), cranial nerve entrapment causing facial palsy and deafness, and potentially lethal elevation of intracranial pressure.
Sclerosteosis
Classic 21-OHD CAH, salt wasting form
The salt wasting form of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH; see this term) is characterized by virilization of the external genitalia in females, hypocortisolism, precocious pseudopuberty and renal salt loss due to aldosterone deficiency.
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
Classic 21-OHD CAH, simple virilizing form
The simple virilizing form of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH; see this term) is characterized by genital ambiguity and virilization of the external genitalia in females, hypocortisolism and precocious pseudopuberty without salt-wasting.
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form
Autoimmune disease with skin involvement
Phenylalanine tRNA ligase 2, mitochondrial
phenylalanyl-tRNA synthetase 2, mitochondrial
DAPPER
DAPPER1
FRODO
HDPR1
THYEX3
dishevelled binding antagonist of beta catenin 1
P70R
PMP69
ATP binding cassette subfamily D member 4
KIAA1320
HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1
CSDD2
lin-28 homolog B
IFI15
UCRP
ISG15 ubiquitin-like modifier
ICSBP
IRF-8
interferon regulatory factor 8
Nephronophthisis with retinal dystrophy
Renal dysplasia-retinal aplasia syndrome
SLSN
Senior-Loken syndrome (SLSN) is a very rare autosomal recessive oculo-renal disease characterized by the association of nephronophthisis (NPHP), a chronic kidney disease, with retinal dystrophy.
Senior-Loken syndrome
De Morsier syndrome
SOD
Septo-optic dysplasia
Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects.
Septo-optic dysplasia spectrum
AF15Q14
CT29
D40
KIAA1570
PPP1R55
Spc7
blinkin, bub-linking kinetochore protein
cancer/testis antigen 29
hKNL-1
hSpc105
kinetochore null 1 homolog (C. elegans)
protein phosphatase 1, regulatory subunit 55
kinetochore scaffold 1
CILD18
dynein axonemal assembly factor 5
Darier-Gottron disease
Erythrokeratodermia progressiva symmetrica
Progressive symmetric erythrokeratodermia, Gottron type
Progressive symmetric erythrokeratodermia
POC1 centriolar protein A
Congenital bronchopulmonary sequestration
Congenital pulmonary sequestration is a rare respiratory malformation characterized by a cystic or solid mass of nonfunctioning primitive segmental lung tissue that does not communicate with the tracheobronchial tree and has anomalous systemic blood supply. Intralobar pulmonary sequestration may be asymptomatic or may present with recurrent pulmonary infections, hemoptysis, chest pain, cough and is usually diagnosed in older children and adults. Extralobar pulmonary sequestration present with respiratory distress, cyanosis, difficulty feeding or infection, may be associated with other anomalies and is mostly diagnosed in neonates or infants.
Congenital pulmonary sequestration
Sézary lymphoma
Sézary syndrome (SS) is an aggressive form of cutaneous T-cell lymphoma characterized by a triad of erythroderma, lymphadenopathy and circulating atypical lymphocytes (Sézary cells).
Sézary syndrome
SPAX
Spastic ataxia
AD-SPAX
Autosomal dominant spastic ataxia
AR-SPAX
Autosomal recessive spastic ataxia
Partial deletion of chromosome 12p
Partial monosomy of chromosome 12p
Partial monosomy of the short arm of chromosome 12
Partial deletion of the short arm of chromosome 12
Aarskog-Ose-Pande syndrome
Lipodystrophy-Rieger anomaly-diabetes syndrome
Rieger anomaly-partial lipodystrophy syndrome
SHORT syndrome is a rare inherited condition of multiple anomalies whose name stands for short stature, hyperextensibility of joints, ocular depression, Rieger anomaly (see this term) and teething delay which, along with mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and progeroid appearance, are manifestations of the disease.
SHORT syndrome
Usher syndrome 1H (autosomal recessive)
calcium and integrin binding family member 2
CILD5
KIAA1864
PPP1R31
Protein phosphatase 1, regulatory subunit 31
HYDIN, axonemal central pair apparatus protein
calcium binding protein 2
ShprintzenGoldberg omphalocele syndrome is a very rare inherited malformation syndrome characterized by omphalocele, scoliosis, mild dysmorphic features (downslanted palpebral fissures, s-shaped eyelids and thin upper lip), laryngeal and pharyngeal hypoplasia and learning disabilities.
Omphalocele syndrome, Shprintzen-Goldberg type
Diffuse fasciitis with eosinophilia
Shulman syndrome
Eosinophilic fasciitis is a rare connective tissue disease that is characterized by inflammation and thickening of the fascia, usually associated with peripheral eosinophilia. It presents during adulthood with symmetrical and painful swelling of mainly the extremities that progressively become indurated. Fatigue, disabling cutaneous fibrosis, myositis and arthritis may also be observed.
Eosinophilic fasciitis
Sialuria, French type
Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood.
Sialuria
Siegler-Brewer-Carey syndrome is characterized by cataracts, otitis media, intestinal malabsorption, chronic respiratory infection, and failure to thrive. It has been recently described in two sibs born to consanguineous parents. The patients also developed recurrent pneumonia and progressive azotemia leading to end-stage renal disease. Both children died of overwhelming infection (sepsis, meningitis). An autosomal recessive mode of inheritance was proposed.
Siegler-Brewer-Carey syndrome
Brachydactyly-symphalangism syndrome
Sillence syndrome (brachydactyly-symphalangism syndrome) resembles type A1 brachydactyly (variable shortening of the middle phalanges of all digits) with associated symphalangism (producing a distal phalanx with the shape of a chess pawn). Scoliosis, clubfoot and tall stature are also characteristic.
Sillence syndrome
Sirenomelia is a rare, genetic, developmental defect during embryogenesis disorder characterized by fusion of the lower limbs and associated with some degree of lower extremity reduction and persistent vitelline artery. Patients also present severe malformations of the musculoskeletal system (e.g. sacral agenesis), as well as the urogenital and lower gastrointestinal tracts (e.g. renal agenesis, absent bladder, rectal/anal atresia, and absent internal genitalia). Most cases are stillborn, or die during, or shortly after, birth.
Sirenomelia
EKV
Erythrokeratodermia variabilis, Mendes da Costa type
Erythrokeratodermia variabilis
ICCA syndrome
Paroxysmal kinesigenic dyskinesia and infantile convulsions
Infantile Convulsions and paroxysmal ChoreoAthetosis (ICCA) syndrome is a neurological condition characterized by the occurrence of seizures during the first year of life (Benign familial infantile epilepsy ; see this term) and choreoathetotic dyskinetic attacks during childhood or adolescence.
Infantile convulsions and choreoathetosis
Eyebrow duplication-syndactyly syndrome is characterised by partial duplication of the eyebrows and syndactyly of the fingers and toes. It has been described in three patients (a brother and sister and an isolated case). Skin hyperelasticity, hypertrichosis and long eyelashes, and abnormal periorbital wrinkling were also reported in some of the patients. Transmission is autosomal recessive.
Eyebrow duplication-syndactyly syndrome
Tsao-Ellingson syndrome
Infantile spasms-broad thumbs syndrome is a rare neurologic disorder characterized by profound developmental delay, facial dysmorphism (i.e. microcephaly, large anterior fontanel, hypertelorism, downslanting palpebral fissures, beaked nose, micrognathia), broad thumbs and flexion and/or extension spasms. Bilateral cataracts, hypertrophic cardiomyopathy and hydrocele have also been reported. EEG shows hypsarrhythmic features and MRI may reveal partial agenesis of the corpus callosum, mild brain atrophy and/or ventriculomegaly. There have been no further descriptions in the literature since 1990.
Infantile spasms-broad thumbs syndrome
A mutation of a gene in a germ cell that is sufficient to cause the disorder and can be transmitted to the offspring.
disease-causing germline mutation(s) in
A mutation of a gene in a somatic cell that is sufficient to cause the disorder but can not be transmitted to the offspring.
disease-causing somatic mutation(s) in
A gene mutation in a germ cell that predisposes to the development of a disorder, and that is necessary but not sufficient to develop the disorder.
major susceptibility factor in
A gene mutation in a germ cell that modifies the clinical presentation of the disorder and that can be passed on to offspring.
modifying germline mutation in
A coding or regulatory DNA sequence from a gene that has fused with another coding and/or regulatory DNA sequence from a different gene.
part of a fusion gene in
A gene included in a chromosomal rearrangement, and proved to have a major influence in the phenotype of the chromosomal rearrangement.
role in the phenotype of
CFF
HCF-1
HCF1
PPP1R89
VCAF
VP16-accessory protein
protein phosphatase 1, regulatory subunit 89
host cell factor C1
p34
alpha and gamma adaptin binding protein
peroxisomal biogenesis factor 11 beta
CILD19
LRTP
Leucine rich testes protein
TSLRP
leucine rich repeat containing 6
KCa4.1
KIAA1422
SLACK
Sequence like a calcium-activated K+ channel
Slo2.2
potassium sodium-activated channel subfamily T member 1
CAMI
DD132
PHKD
phosphorylase kinase subunit delta
prepro-calmodulin 1
calmodulin 1
LIM-1
LIM homeobox 1
TL1
TL1A
TNF ligand-related molecule 1
TNF superfamily ligand TL1A
VEGI
VEGI192A
Vascular endothelial cell growth inhibitor
Vascular endothelial growth inhibitor-192A
TNF superfamily member 15
Extrinsic allergic alveolitis
Hypersensitivity pneumonitis (HP) is a pulmonary disease with symptoms of dyspnea and cough resulting from the inhalation of an antigen to which the subject has been previously sensitized.
Hypersensitivity pneumonitis
BOB1
OBF1
POU class 2 associating factor 1
T-B+ SCID
T-B+ severe combined immunodeficiency (SCID; see this term) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive.
T-B+ severe combined immunodeficiency
T-B- SCID
T-B- severe combined immunodeficiency (SCID; see this term) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T and B lymphocytes, resulting in recurrent early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive. Hypersensitivity to ionizing radiation is a characteristic feature of some of its sub-types.
T-B- severe combined immunodeficiency
SCID due to DNA-PKcs deficiency
Severe combined immunodeficiency (SCID) due to DNA-PKcs deficiency is an extremely rare type of SCID (see this term) characterized by the classical signs of SCID (severe and recurrent infections, diarrhea, failure to thrive), absence of T and B lymphocytes, and cell sensitivity to ionizing radiation.
Severe combined immunodeficiency due to DNA-PKcs deficiency
CID due to ORAI1 deficiency
deficiency is a form of CID due to Calcium release activated Ca2+ (CRAC) channel dysfunction (see this term) characterized by recurrent infections, congenital myopathy, ectodermal dysplasia and anhydrosis.
Combined immunodeficiency due to ORAI1 deficiency
CID due to STIM1 deficiency
deficiency is a form of CID due to Calcium release activated Ca2+(CRAC) channel dysfunction (see this term) characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia.
Combined immunodeficiency due to STIM1 deficiency
Lyp
Lyp1
Lyp2
protein tyrosine phosphatase, non-receptor type 22
CID due to IKAROS deficiency
Combined immunodeficiency due to IKAROS deficiency
Pancytopenia due to IKZF1 mutations is a rare syndrome with combined immunodeficiency characterized by a variable clinical presentation ranging from asymptomatic individuals to potentially life-threatening, recurrent bacterial infections associated with progressive loss of serum immunoglobulins and B cells.
Pancytopenia due to IKZF1 mutations
CID due to MAGT1 deficiency
Combined immunodeficiency due to MAGT1 deficiency
XMEN
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia is a rare combined T and B cell immunodeficiency characterized by recurrent sinopulmonary and viral infections, persistent elevated Epstein-Barr virus (EBV) viremia and increased susceptibility to EBV-associated B-cell lymphoproliferative disorders. Immunological analyses show normal lymphocyte count or mild to moderate lymphopenia, inverted CD4:CD8 T-cell ratio and hypogammaglobulinemias.
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
X-linked spasticity-intellectual disability-epilepsy syndrome
homeobox C13
OTGN
mlemp
otogelin
3'-5' RNA exonuclease
OLD35
PNPase
Polynucleotide phosphorylase
old-35
polyribonucleotide nucleotidyltransferase 1
otogelin like
L26
ribosomal protein L26
Spina bifida-hypospadias syndrome is a rare developmental defect during embryogenesis disorder characterized by the specific association of glandular hypospadias and lumbo-sacral spina bifida. Affected individuals may or may not present additional congenital anomalies, such as hydrocephaly, microstomia, patent ductus arteriosus, cryptorchidism, intestinal malrotation, rocker-bottom feet, and hypertrichosis.
Spina bifida-hypospadias syndrome
ribitol xylosyltransferase 1
Methionine tRNA ligase 2, mitochondrial
mtMetRS
methionyl-tRNA synthetase 2, mitochondrial
C-FMS
CD115
CSFR
colony stimulating factor 1 receptor
AAF132
Conserved telomere capping protein 1
Conserved telomere maintenance component 1
alpha accessory factor 132
CST telomere replication complex component 1
ACONM
aconitate hydratase, mitochondrial
mitochondrial aconitase
aconitase 2
Der Kaloustian-Jarudi-Khoury syndrome
Corneal cerebellar syndrome is characterised by the unusual combination of spinocerebellar degeneration and corneal dystrophy. Three sisters born to normal consanguineous parents have been reported, one of whom had only minor spinocerebellar signs without ocular involvement.
Spinocerebellar degeneration-corneal dystrophy syndrome
L-SOX5
SRY-box 5
Glutamate tRNA ligase 2, mitochondrial
KIAA1970
MSE1
glutamyl-tRNA synthetase 2, mitochondrial
STA receptor
STAR
heat stable enterotoxin receptor
guanylate cyclase 2C
signal recognition particle 72
CMT2T
HSPF3
DnaJ heat shock protein family (Hsp40) member B2
IRX-2a
iroquois homeobox 5
mitochondrial tRNA translation optimization 1
KIAA0833
calmodulin binding transcription activator 1
beta-2-microglobulin
GDT1
TMPT27
TPA regulated locus
TPARL
transmembrane protein 165
KRS2
Kinase responsive to stress 2
MST1
Mammalian sterile 20-like 1
YSK3
Yeast Ste20-like
serine/threonine kinase 4
CREB-H
cAMP responsive element binding protein 3 like 3
AML M6
Acute myeloid leukemia M6
Erythroleukemia
Acute erythroid leukemia
Spondylo-camptodactyly syndrome is characterized by camptodactyly, flattened cervical vertebral bodies and variable degrees of thoracic scoliosis.
Spondylocamptodactyly syndrome
High scapula
Sprengel deformity
, that usually begins with gastrointestinal symptoms (e.g. abdominal pain, nausea, vomiting, and diarrhea, that cause severe dehydration) and an initial leukocytosis leading to marrow failure (24 hours after ingestion), followed by potentially fatal multi-organ failure with mental status change, oliguric renal failure, disseminated intravascular coagulation, electrolyte imbalance, acid-base disturbance, cardiac failure/arrest and shock within 1-3 days.
Colchicine poisoning
Methanol poisoning is a rare poisoning resulting in elevated anion gap metabolic acidosis, due to the alcohol dehydrogenase (ADH)-mediated production of formic acid (which is poisonous to the central nervous system), and characterized by dizziness, nausea, vomiting, confusion, metabolic acidosis, visual disturbances (which if left untreated can lead to blindness), coma, and death (due to respiratory failure).
Methanol poisoning
Ethylene glycol poisoning is a rare poisoning resulting in elevated anion gap metabolic acidosis, due to the production of glycolic acid, glyoxylic acid, and oxalic acid by alcohol dehydrogenase (ADH) in the liver when ethylene glycol is metabolized, characterized initially by euphoria, slurred speech, encephalopathy, coma and seizures, and followed by late manifestations such as tachycardia, arrhythmias, myocardial depression, hemodynamic imbalance and, finally, acute renal failure.
Ethylene glycol poisoning
Paraquat poisoning is a rare intoxication with paraquat (a non-selective bipyridilium herbicide that has been banned in Europe), usually occurring through ingestion of the poison, and that presents with caustic injury of the oral cavity and pharynx, as well as nausea, vomiting, epigastric pain, lethargy, loss of consciousness and fever. Patients may develop potentially life-threatening complications such as hepatic dysfunction, acute tubular necrosis and renal insufficiency, and respiratory failure (due to pulmonary fibrosis) due to its inherent toxicity and lack of effective treatment. Intoxication via inhalation, injection and dermal or mucus contact have also been reported.
Paraquat poisoning
Digitalis (digoxin) poisoning is a potentially life-threatening poisoning that provokes conduction disturbances, characterized by increased automaticity and decreased conduction. Acute poisoning presents with the common initial manifestations of nausea and vomiting, cardiovascular manifestations (bradycardia, heart block and a variety of dysrhythmias), central nervous system manifestations (lethargy, confusion and weakness) and hyperkalemia. Chronic poisoning is more insidious, manifesting with gastrointestinal symptoms, altered mental status, and visual disturbances.
Digitalis poisoning
Pulmonary venoocclusive disease
The syndrome steatocystoma multiplex and natal teeth is characterized by generalized multiple steatocystomas and natal teeth.
Steatocystoma multiplex-natal teeth syndrome
Steinfeld syndrome
Holoprosencephaly-radial heart renal anomalies syndrome is characterised by holoprosencephaly, predominantly radial limb deficiency (absent thumbs, phocomelia), heart defects, kidney malformations and absence of gallbladder.
Holoprosencephaly-radial heart renal anomalies syndrome
IKAROS
LyF-1
PPP1R92
hIk-1
protein phosphatase 1, regulatory subunit 92
IKAROS family zinc finger 1
DNA-PKcs
DNA-dependent protein kinase
DNAPK
DNPK1
XRCC7
protein kinase, DNA-activated, catalytic polypeptide
Congenital pulmonary vein (PV) stenosis or atresia is a rare progressive life-threatening great vessels anomaly characterized by narrowing and obstruction of one or more normally positioned PV at their junction with the left atrium, that usually presents during early infancy with dyspnea, tachypnea, and repeated pulmonary infections, and eventually, when all PV of one lung are affected, results in pulmonary hypertension (PH) and consecutive pulmonary arterial hypertension (PAH) (see this term). It may manifest as an isolated lesion or associated with other cardiac defects such as congenital pulmonary venous return anomaly (see this term) and septal defects.
Congenital pulmonary veins atresia or stenosis
HBV pre s2 binding protein 1
SBP1
multiple EGF like domains 8
ATR interacting protein
P66beta
Transcription repressor p66 beta component of the MeCP1 complex
GATA zinc finger domain containing 2B
NAK
TANK binding kinase 1
Congenital pulmonary stenosis (PS) is a congenital heart malformation (see this term) that is characterized by a right ventricular outflow obstruction with a clinical presentation that may vary from critical stenosis presenting in the neonatal period to asymptomatic mild stenosis. The obstruction in PS can be at the valvular, subpulmonary, or supravalvular levels (valvular, subpulmonary, supravalvular PS; see these terms).
Congenital pulmonary valve stenosis
Ewing's sarcoma is a malignant small round cell bone tumor with strong metastatic potential.
Ewing sarcoma
Subpulmonary stenosis
rotatin
K6IRS1
KRT6IRS
KRT6IRS1
keratin 71
Onat syndrome
Subaortic stenosis-short stature syndrome
CNM4
Centronuclear myopathy type 4
Congenital myopathy with internal nuclei and atypical cores is a rare genetic skeletal muscle disease characterized by neonatal hypotonia, distal more than proximal muscle weakness, progressive exercise intolerance with prominent myalgias, and mild-to-moderate overall motor impairment with preserved ambulation. Face, extraocular, cardiac, and respiratory muscles are unaffected. Mild cognitive impairment is also noted in most patients.
Congenital myopathy with internal nuclei and atypical cores
Distal del(17)(p13.1)
Distal 17p13.1 microdeletion syndrome is a rare chromosomal anomaly syndrome characterized by mild global developmental delay/intellectual disability with poor to absent speech, dysmorphic features (long midface, retrognathia with overbite, protruding ears), microcephaly, failure to thrive, wide-based gait and a body posture with knee and elbow flexion and hands held in a midline.
Distal 17p13.1 microdeletion syndrome
Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome
Wiedemann-Steiner syndrome is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by short stature, hypertrichosis cubiti, facial dysmorphism (hypertelorism, long eyelashes, thick eyebrows, downslanted, vertically narrow, long palpebral fissures, wide nasal bridge, broad nasal tip, long philtrum), developmental delay, and mild to moderate intellectual disability. It has a variable clinical phenotype with additional manifestations reported including muscular hypotonia, patent ductus arteriosus, small hands and feet, hypertrichosis on the back, behavioral difficulties, and seizures.
Wiedemann-Steiner syndrome
Familial cortical myoclonus is a rare, genetic movement disorder characterized by autosomal dominant, adult-onset, slowly progressive, multifocal, cortical myoclonus. Patients present somatosensory-evoked, brief, jerky, involuntary movements in the face, arms and legs, associated in most cases with sustained, multiple, sudden falls without loss of consciousness. Seizures or other neurological deficits, aside from mild cerebellar ataxia late in the course of the illness, are absent.
Familial cortical myoclonus
Diencephalic-mesencephalic junction dysplasia is a rare, genetic, non-syndromic cerebral malformation characterized by severe intellectual disability, progressive postnatal microcephaly, axial hypotonia, spastic quadriparesis, seizures and facial dysmorphism (bushy eyebrows, hairy forehead, broad nasal root, long flat philtrum, V-shaped upper lip). Additionaly, talipes equinovarus, non-obstructive cardiomyopathy, persistent hyperplastic primary vitreous, obstructive hydrocephalus and autistic features may also be associated. On brain magnetic resonance imaging, the 'butterfly sign' is characterisitcally observed and cortical calcifications, agenesis of the corpus callosum, ventriculomegaly, brainstem dysplasia and cerebellar vermis hypoplasia have also been described.
Diencephalic-mesencephalic junction dysplasia
Chondroectodermal dysplasia with night blindness is a rare genetic bone development disorder characterized by proportionate short stature, nail dysplasia (enlarged, convex, hypertrophic nails), hypodontia and night blindness. Osteopenia, a tendency to present fractures, talipes varus with abnormal gait, ear infections, and watering eyes due to narrow tear ducts are frequently associated. Radiologically patients present delayed bone age on wrist X-rays, platyspondyly, and broad metaphyses of humeri with dense and thickened growth plates.
Chondroectodermal dysplasia with night blindness
SPG53
gene (8p22) encoding vacuolar protein sorting-associated protein 37A.
Autosomal recessive spastic paraplegia type 53
Supravalvular pulmonary stenosis
BMAH
Bilateral adrenal hemorrhage
Bilateral massive adrenal hemorrhage
Zambian hemorrhagic fever
Lujo hemorrhagic fever, caused by the Lujo virus (a newly discovered Old World arenavirus) is a zoonotic disease from Zambia, Africa, whose reservoir is unknown and is characterized by fever and hemorrhagic manifestations with an extremely high fatality rate of 80% (in the 5 reported cases to date) and a moderate to high level of nosocomial transmission.
Lujo hemorrhagic fever
EHF
Ebola fever
Ebola virus disease
Ebola hemorrhagic fever (EHF), caused by Ebola virus, is a severe viral hemorrhagic disease characterized by initial fever and malaise followed by gastrointestinal symptoms, bleeding, shock, and multi-organ system failure.
Ebola hemorrhagic fever
Argentinian hemorrhagic fever
Junin hemorrhagic fever
Argentine hemorrhagic fever (AHF), caused by the Junin virus (JUNV), is an acute viral hemorrhagic disease characterized by initial fever and malaise followed by gastrointestinal symptoms and in some cases hemorrhagic and neurological manifestations.
Argentine hemorrhagic fever
Machupo hemorrhagic fever
Bolivian hemorrhagic fever (BHF), caused by the Machupo virus (MACV), is a severe acute viral hemorrhagic fever characterized by fever, myalgia, and arthralgia followed by hemorrhagic and neurological manifestations.
Bolivian hemorrhagic fever
Guanarito hemorrhagic fever
Venezuelan hemorrhagic fever (VHF), caused by the Guanarito virus, is a viral hemorrhagic disease characterized by fever, headache, arthralgia, sore throat, convulsions, and hemorrhagic manifestations.
Venezuelan hemorrhagic fever
Sabia hemorrhagic fever
Brazilian hemorrhagic fever, caused by the Sabia virus (a newly discovered arenavirus), is a viral hemorrhagic fever, believed to originate from Sao Paulo, Brazil, with only 3 reported cases (2 of which were due to laboratory accidents) to date, characterized by fever, nausea vomiting myalgia tremors, and hemorragic manifestations such as conjunctival petechia and haematemesis, leading potentially to shock, coma and death.
Brazilian hemorrhagic fever
Chapare hemorrhagic fever, caused by the Chapare virus (a new arenavirus), discovered from a small outbreak in Cochabamba, Bolivia between 2003 and 2004, is an acute viral hemorrhagic fever characterized by fever, myalgia, arthralgia, and multiple hemorrhagic signs. About a third of untreated cases go on to develop more severe symptoms with delirium, coma and convulsions and death (in one case). No other cases have been reported since.
Chapare hemorrhagic fever
Hantavirus pulmonary syndrome
Rift Valley fever (RVF), caused by the Rift Valley fever virus (RVFV), is an arbovirus characterized by a usually self-limiting febrile illness but that in some cases can also manifest with thrombosis, vision loss, hemorrhages and/or neurological symptoms.
Rift valley fever
Kyasanur hemorrhagic fever
Monkey disease
Monkey fever
Kyasanura forest disease (KFD), caused by the KFD virus, is an arbovirus characterized by an initial fever, headache and myalgia that can progress to a hemorrhagic disease and that in some cases is followed by a second phase characterized by neurological manifestations.
Kyasanur forest disease
Omsk hemorrhagic fever (OHF), caused by Omsk hemorrhagic fever virus (OHFV), is a zoonotic disease characterized by fever, nausea, myalgia and moderately severe hemorrhagic manifestations as well as in some cases meningitis, pneumonia and nephrosis.
Omsk hemorrhagic fever
CCRCC
Clear cell renal cell adenocarcinoma
Clear cell renal cell carcinoma
Clear cell renal carcinoma
MCRCC
Multilocular clear cell adenocarcinoma
Multilocular clear cell carcinoma
Multilocular clear cell renal cell adenocarcinoma
Multilocular clear cell renal cell carcinoma
Multilocular cystic renal cell adenocarcinoma
Multilocular cystic renal cell carcinoma
Multilocular cystic renal neoplasm of low malignant potential is a rare subtype of clear cell renal cell carcinoma with distinct pathological features of cysts lined by occasionally flattened cuboidal clear cells and septa containing aggregates of epithelial cells with clear cytoplasm, and excellent prognosis. The tumor usually presents as an asymptomatic, unilateral, solitary lesion, macroscopically consisting of numerous, fluid-filled, septated cysts of variable size. Rarely, the symptoms typically associated with renal tumors (flank pain, hematuria, palpable mass) may be present.
Multilocular cystic renal neoplasm of low malignant potential
Papillary renal cell adenocarcinoma
Papillary renal cell carcinoma is a rare subtype of renal cell carcinoma, arising from the renal tubular epithelium and showing a papillary growth pattern, which typically manifests with hematuria, flank pain, palpable abdominal mass or nonspecific symptoms, such as fatigue, weight loss or fever. Symptoms related to metastatic spread, such as bone pain or persistent cough, are frequently associated since early diagnosis is not common. It is typically multifocal, bilateral, and in most cases sporadic, although different hereditary syndromes, such as Hereditary leiomyoma renal cell carcinoma, Birt-Hogg-Dubé syndrome and Tuberous sclerosis, may predispose to the development of papillary renal cell carcinoma.
Papillary renal cell carcinoma
SupraValvar Aortic Stenosis (SVAS) is characterized by the narrowing of the aorta lumen (close to its origin) or other arteries (branch pulmonary arteries, coronary arteries). This narrowing of the aorta or pulmonary branches may impede blood flow, resulting in heart murmur and ventricular hypertrophy (in case of aorta involvement). The narrowing results from a thickening of the artery wall, which is not related to atherosclerosis.
Supravalvular aortic stenosis
Chromophobe renal cell adenocarcinoma
Chromophobe renal cell carcinoma is a rare subtype of renal cell carcinoma, originating from the intercalating cells of the collecting ducts and macroscopically manifesting as a well-circumscribed, highly lobulated, solid tumor that is usually diagnosed at an early stage. It is frequently asymptomatic, or may present with nonspecific symptoms, such as weight loss, fever or fatigue. The classic presentation observed in renal tumors (hematuria, flank pain and palpable mass) is occasionally observed and usually indicates an advanced stage of the disease. It is most frequently sporadic however, several familial cases, associated with Birt-Hogg Dubé syndrome, have been described.
Chromophobe renal cell carcinoma
Carcinoma associated with MITF/TFE translocation
Translocation renal cell carcinoma
[t(6;11) t-RCC] genes. The t(6;11) t-RCC has distinctive histologic features of biphasic appearance with larger epitheloid and smaller eosinophilic cells. The symptoms are usually non-specific and include hematuria, flank pain, palpable abdominal mass and/or systemic symptoms of anemia, fatigue and fever.
MiT family translocation renal cell carcinoma
Renal cell carcinoma after neuroblastoma
Renal cell carcinoma associated with neuroblastoma
Renal medullary carcinoma is a rare, aggressive subtype of renal cell carcinoma characterized by a large, white or tan, firm, infiltrative tumor with microabscess-like foci centered in the renal medulla, typically presenting with hematuria, abdominal/flank pain, weight loss and fever. It is associated with sickle cell trait and disease and metastasis to the bones and lungs is common at time of diagnosis.
Renal medullary carcinoma
Mucinous tubular and spindle cell renal carcinoma is a rare subtype of renal cell carcinoma characterized, histologically, by tubular architecture and sheets of spindle cells embedded in a mucinous/myxoid stroma and, macroscopically, by a solid, generally well-circumscribed, partially encapsulated tumor of variable size, with a homogenously colored, bulging cut surface, occassionally containing areas of hemorrhage or necrosis, usually located in the cortex. Patients can present abdominal/flank pain, adbominal mass and/or hematuria, however most are asymptomatic and tumor is discovered incidentally. Indolent behavior is frequent and association with nephrolithiasis and end-stage kidney disease has been noted.
Mucinous tubular and spindle cell renal carcinoma
Tubulocystic renal cell carcinoma is an extremely rare subtype of renal cell carcinoma most frequently characterized by a small, solitary, well-circumscribed, unencapsulated renal tumor composed of multiple small to medium-sized cysts with a white or gray, spongy ("bubble wrap-like") cut surface. Patients are usually asymptomatic or could manifest with abdominal pain, abdominal distension and/or hematuria. Progression, recurrence and metastasis rarely occur although lymph node, bone, pleura and liver metastases have been reported.
Tubulocystic renal cell carcinoma
Inherited renal cancer-predisposing syndrome
Autosomal recessive myogenic AMC
SYNE1-related AMC
SYNE1-related arthrogryposis multiplex congenita
Autosomal recessive myogenic arthrogryposis multiplex congenita is a rare inherited neuromuscular disease characterized by prenatal presentation (usually in the second trimester) of reduced fetal movements and abnormal positioning resulting in joint abnormalities that may involve both lower and upper extremities and is usually symmetric, severe hypotonia at birth with bilateral club foot, motor development delay, mild facial weakness without opthalmoplegia, absent deep tendon reflexes, normal motor and sensory nerve conduction velocities, no cerebellar or pyramidal involvement, and progressive disease course with loss of ambulation after the first decade of life.
Autosomal recessive myogenic arthrogryposis multiplex congenita
Carney complex variant
Carney complex-trismus-pseudocamptodactyly syndrome is a rare genetic heart-hand syndrome characterized by typical manifestations of the Carney complex (spotty pigmentation of the skin, familial cardiac and cutaneous myxomas and endocrinopathy) associated with trismus and distal arthrogryposis (presenting as involuntary contraction of distal and proximal interphalangeal joints of hands evident only on dorsiflexion of wrist and similar lower-limb contractures producing foot deformities).
Carney complex-trismus-pseudocamptodactyly syndrome
CDO syndrome
Stern-Lubinsky-Durrie syndrome
Stern-Lubinsky-Durrie syndrome is characterised by corneal epithelial changes (associated with photophobia and burning and watering of the eyes), diffuse palmoplantar hyperkeratosis, distal onycholysis, brachydactyly, short stature, dental problems, and premature birth. It has been described in seven individuals from three generations of one family. It is transmitted as an autosomal dominant trait.
Corneodermatoosseous syndrome
Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations is a rare cancer-predisposing syndrome, associated with the D1 subgroup of Fanconi anemia (FA), characterized by progressive bone marrow failure, cardiac, brain, intestinal or skeletal abnormalities and predisposition to various malignancies. Bone marrow suppression and the incidence of developmental abnormalities are less frequent than in other FA, but cancer risk is very high with the spectrum of childhood cancers including Wilms tumor, brain tumor (often medulloblastoma) and ALL/AML.
Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations
Familial AML
Inherited AML
Pure familial AML
Pure familial acute myeloid leukemia
Inherited acute myeloid leukemia (AML) is a rare, malignant hematopologic disease characterized by clonal proliferation of myeloid blasts, primarily involving the bone marrow, in association with congenital disorders (e.g. Fanconi anemia, dyskeratosis congenita, Bloom syndrome, Down syndrome, congenital neutropenia, neurofibromatosis, etc.) and genetic defects predisposing to AML. Patients present with signs and symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly, etc.). Depending on the underlying genetic defect, there may be additional cancer risks and other health problems present.
Inherited acute myeloid leukemia
AML with CEBPA somatic mutations
Acute myeloid leukemia with CEBPA somatic mutations is a subtype of acute myeloid leukemia with recurrent genetic abnormalities, characterized by clonal proliferation of myeloid blasts harboring somatic mutations of the CEBPA gene in the bone marrow, blood and, rarely, other tissues. It can present with anemia, thrombocytopenia, and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly).
Acute myeloid leukemia with CEBPA somatic mutations
FNMTC
Familial pure nonmedullary thyroid carcinoma
Familial papillary or follicular thyroid carcinoma is a rare, hereditary nonmedullary thyroid carcinoma characterized by the presence of differentiated thyroid cancer of follicular cell origin in two or more first-degree relatives, in the absence of other familial tumor syndromes or radiation exposure. Frequent capsular invasion is observed. Biopsy reveals multicentric tumors with multiple adenomatous nodules with or without oxyphilia and follicular or papillary carcinoma histology.
Familial papillary or follicular thyroid carcinoma
Familial nonmedullary thyroid carcinoma (fNMTC) is a rare non-syndromic form of thyroid cancer characterized by occurrence of thyroid carcinoma (TC) as the primary feature in a familial setting.
Familial nonmedullary thyroid carcinoma
Sternal malformation-vascular dysplasia syndrome
COXPD8
Combined oxidative phosphorylation defect type 8 is a mitochondrial disease due to a defect in mitochondrial protein synthesis resulting in deficiency of respiratory chain complexes I, III and IV in the cardiac and skeletal muscle and brain characterized by severe hypertrophic cardiomyopathy, pulmonary hypoplasia, generalized muscle weakness and neurological involvement.
Combined oxidative phosphorylation defect type 8
COXPD9
Combined oxidative phosphorylation defect type 9 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by initially normal growth and development followed by the infantile-onset of failure to thrive, psychomotor delay, poor feeding, dyspnea, severe hypertrophic cardiomyopathy and hepatomegaly. Laboratory studies report increased plasma lactate and alanine, abnormal liver enzymes and decreased activity of mitochondrial respiratory chain complexes I, III, IV, and V.
Combined oxidative phosphorylation defect type 9
COXPD13
Combined oxidative phosphorylation defect type 13 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by normal early development followed by the sudden onset in infancy of poor feeding, dysphagia, truncal (followed by global) hypotonia, motor regression, abnormal movements (i.e. severe dystonia of limbs, choreoathetosis, facial dyskinesias) and reduced tendon reflexes. The disease course is severe but nonprogressive.
Combined oxidative phosphorylation defect type 13
COXPD14
Combined oxidative phosphorylation defect type 14 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by neonatal or infancy-onset of seizures that are refractory to treatment, delayed or absent psychomotor development and lactic acidosis. Additional manifestations reported include poor feeding, failure to thrive, microcephaly, hypotonia, anemia and thrombocytopenia.
Combined oxidative phosphorylation defect type 14
COXPD15
Combined oxidative phosphorylation defect type 15 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by onset in infancy or early childhood of muscular hypotonia, gait ataxia, mild bilateral pyramidal tract signs, developmental delay (affecting mostly speech and coordination) and subsequent intellectual disability. Short stature, obesity, microcephaly, strabismus, nystagmus, reduced visual acuity, lactic acidosis, and a brain neuropathology consistent with Leigh syndrome are also reported.
Combined oxidative phosphorylation defect type 15
Autosomal recessive MSMD due to a complete deficiency
Autosomal recessive (AR) mendelian susceptibility to mycobacterial diseases (MSMD) due to a complete deficiency describes a group of genetic variants of MSMD (see this term) comprised of MSMD due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency, complete IFN-gammaR2 deficiency, complete interleukin-12 subunit beta (IL12B) deficiency, complete interleukin-12 receptor subunit beta-1 (IL-12RB1) deficiency and complete ISG15 deficiency (see these terms).
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency
Autosomal recessive MSMD due to a partial deficiency
genes which lead to a residual response of IFN-gamma.
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency
Autosomal dominant MSMD due to a partial deficiency
Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to a partial deficiency describes a group of variants of MSMD (see this term) due to dominantly inherited partial deficiencies in interferon gamma receptor 1 (IFN-gammaR1), IFN-gammaR2, signal transducer and activator of transcription 1 (STAT1) or interferon regulator factor 8 (IRF8) (see these terms).
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency
MSMD due to complete IFNgammaR2 deficiency
MSMD due to complete interferon gamma receptor 2 deficiency
Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 2 deficiency
Mendelian susceptibily to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 2 (IFN-gammaR2) deficiency is a genetic variant of MSMD (see this term) characterized by a complete deficiency in IFN-gammaR2, leading to an undetectable response to IFN-gamma, and consequently, to severe and often fatal infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM).
Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency
MSMD due to complete IL12RB1 deficiency
MSMD due to complete interleukin 12 receptor beta 1 deficiency
Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency
infections.
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
MSMD due to complete IL12B deficiency
MSMD due to complete interleukin 12B deficiency
Mendelian susceptibility to mycobacterial diseases due to complete interleukin 12B deficiency
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
MSMD due to complete ISG15 deficiency
Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete ISG15 deficiency is a genetic variant of MSMD (see this term) characterized by Bacille Calmette-Guérin (BCG) infections.
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Autosomal recessive MSMD due to partial IFNgammaR1 deficiency
Autosomal recessive MSMD due to partial interferon gamma receptor 1 deficiency
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency
Autosomal recessive (AR) mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IFN-gammaR1 deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency in IFN-gammaR1, leading to a residual response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM).
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
Autosomal recessive MSMD due to partial IFNgammaR2 deficiency
Autosomal recessive MSMD due to partial interferon gamma receptor 2 deficiency
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 2 deficiency
Autosomal recessive mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IFNgammaR2 deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency in IFN-gammaR2, leading to a residual response to IFN-gamma and consequently to recurrent, moderately severe infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM).
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency
Autosomal dominant MSMD due to partial IFNgammaR1 deficiency
Autosomal dominant MSMD due to partial interferon gamma receptor 1 deficiency
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency
Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to partial interferon gamma receptor 1 (IFN-gammaR1) deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency leading to impaired IFN-gamma immunity and, consequently, recurrent, moderately severe infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM).
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
Autosomal dominant MSMD due to partial IFNgammaR2 deficiency
Autosomal dominant MSMD due to partial interferon gamma receptor 2 deficiency
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 2 deficiency
Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to partial interferon gamma receptor 2 (IFN-gammaR2) deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency in IFN-gammaR2, leading to impaired response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM).
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency
MSMD due to partial STAT1 deficiency
MSMD due to partial signal transducer and activator of transcription 1 deficiency
Mendelian susceptibility to mycobacterial diseases due to partial signal transducer and activator of transcription 1 deficiency
Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial STAT1 (signal transducer and activator of transcription 1) deficiency is a genetic variant of MSMD (see this term) characterized by a partial defect in the interferon (IFN)-gamma pathway, leading to mild mycobacterial infections.
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Lyngstadaas syndrome
Steroid dehydrogenase deficiency-dental anomalies syndrome is an autosomal recessive liver disease which was associated with numerical dental aberrations in a consanguineous Arabi Saudi family. This association suggests that the same gene is involved in both defects. General hypomineralisation and enamel hypoplasia found in this family is thought to be secondary to malabsorption due to liver disease.
Steroid dehydrogenase deficiency-dental anomalies syndrome
MSMD due to partial IRF8 deficiency
MSMD due to partial interferon regulatory factor 8 deficiency
Mendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8 deficiency
Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IRF8 (interferon regulatory factor 8) deficiency is a rare genetic variant of MSMD (see this term) characterized by a selective susceptibility to relatively mild infections with bacillus Calmette-Guérin (BCG)..
Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
X-linked MSMD
) genes. They are characterized by mycobacterial infections, occuring in males.
X-linked mendelian susceptibility to mycobacterial diseases
X-linked MSMD due to IKBKG deficiency
X-linked MSMD due to NEMO deficiency
X-linked mendelian susceptibility to mycobacterial diseases due to NEMO deficiency
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
X-linked MSMD due to CYBB deficiency
X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency
Amyloidosis cutis dyschromica
Amyloidosis cutis dyschromia is a rare primary cutaneous amyloidosis characterized by macular or reticulate hyperpigmentation with symmetrically distributed guttate hypo- and hyperpigmented lesions which progress gradually over the years to involve almost the entire body (with relative sparing of the face, hands, feet and neck). Patients are usually asymptomatic, however mild pruritus may be associated. Amyloid deposition in the papillary dermis is observed on skin biopsy. Systemic amyloidosis is not present and association with generalized morphea, atypical Parkinsonism, spasticity, motor weakness or colon carcinoma is rare.
Amyloidosis cutis dyschromia
Retinal macular dystrophy type 2 is a rare, genetic macular dystrophy disorder characterized by slowly progressive ''bull's eye'' maculopathy associated, in most cases, with mild decrease in visual acuity and central scotomata. Usually, only the central retina is involved, however some cases of more widespread rod and cone anomalies have been reported. Rare additional features include empty sella turcica, impaired olfaction, renal infections, hematuria and recurrent miscarriages.
Retinal macular dystrophy type 2
CDG syndrome type It
CDG-It
CDG1T
Congenital disorder of glycosylation type 1t
Congenital disorder of glycosylation type It
Phosphoglucomutase-1 deficiency
PGM1-CDG
DHFR deficiency
Dihydrofolate reductase deficiency
Constitutional megaloblastic anemia with severe neurologic disease
Primary lymphoid conjunctival tumor
Primary lymphoma of the conjunctiva is an extremely rare clonal lymphoid proliferation of the ocular surface, with an indolent course. Clinically it presents with treatment-resistant conjunctivitis, ptosis, excessive tear production or as a painless, salmon-pink, ''fleshy'' patch, with a smooth or multinodular surface, on the bulbar conjunctiva. Histologically it is usually B-cell Non-Hodgkin lymphoma (most often extranodal marginal zone B-cell lymphoma, followed by follicular and diffuse large B-cell lymphoma), with conjunctival T-cell Non-Hodgkin lymphoma being very rare.
Primary lymphoma of the conjunctiva
Alazami syndrome
Microcephalic primordial dwarfism, Alazami type is a rare, genetic developmental defect during embryogenesis syndrome characterized by severe intellectual disability, distinct dysmorphic facial features (i.e. triangular face with prominent forehead, narrow palpebral fissures, deep-set eyes, low-set ears, broad nose, malar hypoplasia, short philtrum, macrostomia, widely spaced teeth) and pre and postnatal proportionate short stature, ranging from primordial dwarfism (height below -3.5 SD) to a milder phenotype with less severe growth restriction (height below -2.5 SD). Other reported features include skeletal findings (e.g. scoliosis), microcephaly, involuntary hand movements, hypersensitivity to stimuli and behavioral problems, such as anxiety.
Microcephalic primordial dwarfism, Alazami type
Microcephalic primordial dwarfism, Dauber type is a rare, genetic developmental defect during embryogenesis characterized by severe pre- and postnatal growth retardation, severe microcephaly, severe developmental delay and intelletual disability, severe adult short stature and facial dysmorphism (incl. hypotelorism, small ears, prominent nose). Other reported features include skeletal anomalies (Madelung deformity, clinodactyly, mild lumbar scoliosis, bilateral hip dysplasia) and seizures. Absence of thelarche and menarche is also associated.
Microcephalic primordial dwarfism, Dauber type
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome is a rare mitochondrial disease due to a defect in coenzyme Q10 biosynthesis that manifests with a broad spectrum of signs and symptoms which may include: neonatal lactic acidosis, global developmental delay, tonus disorder, seizures, reduced spontaneous movements, ventricular hypertrophy, bradycardia, renal tubular dysfunction with massive lactic acid excretion in urine, severe biochemical defect of respiratory chain complexes II/III when assayed together and deficiency of coenzyme Q10 in skeletal muscle. Cerebral and cerebellar atrophy can be seen on magnetic resonance imaging and multiple choroid plexus cysts and symmetrical hyperechoic signal alterations in basal ganglia have been observed on ultrasound.
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
Congenital stiff man syndrome
Familial startle disease
Hereditary hyperexplexia
Kok disease
Stiff baby syndrome
Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses.
Hereditary hyperekplexia
Autoinflammatory syndrome of childhood
Moersch-Woltman syndrome
Stiff man syndrome
Stiff-man syndrome (SMS) is a rare neurological disorder comprising fluctuating trunk and limb stiffness, painful muscle spasms, task-specific phobia, an exaggerated startle response, and ankylosing deformities such as fixed lumbar hyperlordosis.
Stiff person syndrome and related disorders
Stimmler syndrome is characterised by the association of microcephaly, low birth weight and severe intellectual deficit with dwarfism, small teeth and diabetes mellitus. Two cases have been described. Biochemical tests reveal the presence of high levels of alanine in the urine and elevated alanine, pyruvate and lactate levels in the blood.
Stimmler syndrome
Pyroglutamicaciduria
Glutathione synthetase deficiency is characterised by hemolytic anemia, associated with metabolic acidosis and 5-oxoprolinuria in moderate forms, and with progressive neurological symptoms and recurrent bacterial infections in the most severe forms.
Glutathione synthetase deficiency
11-beta-hydroxysteroid dehydrogenase deficiency type 2
Ulick syndrome
Apparent mineralocorticoid excess (AME) is a rare form of pseudohyperaldosteronism characterized by very early-onset and severe hypertension, associated with low renin levels and hypoaldosteronism.
Apparent mineralocorticoid excess
Stoll-Alembik-Finck syndrome
Arthrogryposis-ectodermal dysplasia-other anomalies syndrome
Stoll-Kieny-Dott syndrome
This syndrome is characterized by cardiac arrhythmias (ventricular extrasystoles manifesting as bigeminy or multifocal tachycardia with syncopal episodes), perodactyly (hypoplasia and/or agenesis of the distal phalanges of the toes) and Pierre-Robin sequence (see this term).
Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome
FSHD2
KIAA0650
structural maintenance of chromosomes flexible hinge domain containing 1
cytochrome P450 family 26 subfamily C member 1
HDCMA18P
P-TEFb-interaction protein for 7SK stability
PIP7S
La ribonucleoprotein domain family member 7
Hereditary xerocytosis
Dehydrated hereditary stomatocytosis (DHS) is a rare hemolytic anemia characterized by a decreased red cell osmotic fragility due to a defect in cation permeability, resulting in red cell dehydration and mild to moderate compensated hemolysis. Pseudohyperkalemia (loss of potassium ions from red cells on storage at room temperature) is sometimes observed.
Dehydrated hereditary stomatocytosis
Overhydrated hereditary stomatocytosis (OHSt) is a disorder of red cell membrane permeability to monovalent cations and is characterized clinically by hemolytic anemia.
Overhydrated hereditary stomatocytosis
CLEPD
Cleft lip/palate-ectodermal dysplasia syndrome
X-linked pure spastic paraplegia
Pure or complex familial spastic paraplegia
Pure or complicated familial spastic paraplegia
Pure or complicated hereditary spastic paraplegia
Pure or complex hereditary spastic paraplegia
Pure or complicated autosomal dominant spastic paraplegia
Pure or complex autosomal dominant spastic paraplegia
Pure or complicated autosomal recessive spastic paraplegia
Pure or complex autosomal recessive spastic paraplegia
Pure or complicated X-linked spastic paraplegia
Pure or complex X-linked spastic paraplegia
SPG41
Autosomal dominant spastic paraplegia type 41 is a pure form of hereditary spastic paraplegia characterized by onset in adolescence or early adulthood of slowly progressive spastic paraplegia, proximal muscle weakness of the lower extremities and small hand muscles, hyperreflexia, spastic gait and mild urinary compromise.
Autosomal dominant spastic paraplegia type 41
Maternally-inherited SPG
Maternally-inherited spastic paraplegia
MT-ATP6-related mitochondrial spastic paraplegia is a rare, genetic, complex hereditary spastic paraplegia disorder characterized by adulthood-onset of slowly progressive, bilateral, mainly lower limb spasticity and distal weakness associated with lower limb pain, hyperreflexia, and reduced vibration sense. Axonal neuropathy is frequently observed on electromyography and nerve conduction examination.
MT-ATP6-related mitochondrial spastic paraplegia
SPG36
Autosomal dominant spastic paraplegia type 36 (SPG36) is a complex form of hereditary spastic paraplegia, characterized by an onset in childhood or adulthood of progressive spastic paraplegia (with spastic gait, spasticity, lower limb weakness, pes cavus and urinary urgency) associated with the additional manifestation of peripheral sensorimotor neuropathy.
Autosomal dominant spastic paraplegia type 36
SPG43
Autosomal recessive spastic paraplegia type 43 is a rare, complex hereditary spastic paraplegia characterized by a childhood to adolescent onset of progressive lower limb spasticity, associated with mild to severe gait disturbances, extensor plantar responses, muscle weakness and severe distal atrophy, frequently with upper limb involvement. Additional features may include joint contractures, distal sensory loss and brisk or absent deep tendon reflexes. Other signs, such as depression, memory loss, optic atrophy (with vision loss) and brain iron deposition (revealed by brain imagery), have also been reported.
Autosomal recessive spastic paraplegia type 43
gene (12q24.31) encoding probable peptide chain release factor C12orf65, mitochondrial.
Autosomal recessive spastic paraplegia type 55
SPG54
gene (8p11.23) encoding phospholipase DDHD2.
Autosomal recessive spastic paraplegia type 54
Autosomal recessive spastic paraplegia type 49
HSAN due to TECPR2 mutation
SPG49
Hereditary sensory and autonomic neuropathy due to TECPR2 mutation is a rare genetic peripheral neuropathy characterized by early hypotonia evolving to spastic paraparesis, areflexia, decreased pain and temperature sensitivity, autonomic neuropathy, gastroesophageal reflux disease, recurrent pneumonia and respiratory problems. Patients also have intellectual disability and dysmorphic features, including mild brachycephalic microcephaly, short broad neck, low anterior hairline and coarse face.
Hereditary sensory and autonomic neuropathy due to TECPR2 mutation
SPG46
gene (9p13.2) encoding non-lysosomal glucosylceramidase.
Autosomal recessive spastic paraplegia type 46
Autosomal recessive spastic paraplegia type 65
SPG45
SPG65
Autosomal recessive spastic paraplegia type 45 is a rare, pure or complex form of hereditary spastic paraplegia characterized by onset in infancy of progressive lower limb spasticity, abnormal gait, increased deep tendon reflexes and extensor plantar responses, that may be associated with intellectual disability. Additional signs, such as contractures in the lower limbs, amyotrophy, clubfoot and optic atrophy, have also been reported.
Autosomal recessive spastic paraplegia type 45
Stormorken syndrome
Thrombocytopathy-asplenia-miosis syndrome
Stormorken-Sjaastad-Langslet syndrome is characterized by thrombocytopathy, asplenia, miosis, muscle fatigue, migraine, dyslexia, and ichthyosis. It has been described in six members of one family. It is transmitted as an autosomal dominant trait.
Stormorken-Sjaastad-Langslet syndrome
gene (1q41-q42) encoding the gap junction gamma-2 protein.
Autosomal recessive spastic paraplegia type 44
Autosomal recessive spastic paraplegia type 68
SPG68
SPOAN
gene (11q13.1), encoding kinesin light chain 2.
Spastic paraplegia-optic atrophy-neuropathy syndrome
SPG56
Autosomal recessive spastic paraplegia type 56
Encephalofacial angiomatosis
Encephalotrigeminal angiomatosis
Sturge-Weber-Dimitri syndrome
Sturge-Weber-Krabbe angiomatosis
Sturge-Weber-Krabbe syndrome
Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies.
Sturge-Weber syndrome
EPS8 like 3
FBH3
FBHOk
adaptor related protein complex 2 subunit sigma 1
Gef10
KIAA0294
Rho guanine nucleotide exchange factor 10
Neonatal Schwartz-Jampel syndrome
SJS2
Schwartz-Jampel syndrome type 2
Stüve-Wiedemann dysplasia
Stüve-Wiedemann syndrome (SWS) is a rare autosomal recessive congenital primary skeletal dysplasia, characterized by small stature, bowing of the long bones, camptodactyly, hyperthermic episodes, respiratory distress/apneic episodes and feeding difficulties that usually lead to early mortality.
Stüve-Wiedemann syndrome
DAPLE
Dvl-associating protein with a high frequency of leucine residues
HkRP2
SCA40
spinocerebellar ataxia 40
coiled-coil domain containing 88C
Curatolo-Cilio-Pessagno syndrome
White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome
DYT23
GENX-3947
Transmembrane protein 16C (eight membrane-spanning domains)
anoctamin 3
CMT2Q
KIAA1630
MGC3090
dehydrogenase E1 and transketolase domain containing 1
CHT1
hCHT
solute carrier family 5 member 7
ACTSG
actin, gamma 2, smooth muscle, enteric
Isolated mitochondrial respiratory chain complex II deficiency
Isolated succinate-coenzyme Q reductase deficiency
Isolated succinate-ubiquinone reductase deficiency
Isolated succinate-CoQ reductase deficiency
signal transducer and activator of transcription 4
Bessel-Hagen disease
Multiple cartilaginous exostoses
Multiple osteochondromas (MO) is characterised by development of two or more cartilage capped bony outgrowths (osteochondromas) of the long bones.
Multiple osteochondromas
Summitt syndrome is an extremely rare disorder originally described in two brothers and characterized by mild to severe craniosynostosis and syndactyly, obesity, and normal intelligence. Acrocephaly, brachydactyly, clinodactyly, mild syndactyly of the hands and feet, genu valgum and marked obesity were later described in another patient. There have been no further descriptions in the literature since 1979. Summitt syndrome could be a variant of Carpenter syndrome.
Summitt syndrome
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_1215 with label: Autosomal dominant optic atrophy plus syndrome
Autosomal dominant optic atrophy and congenital deafness
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_52368 with label: Mohr-Tranebjaerg syndrome
Deafness-opticoacoustic nerve atrophy-dementia syndrome
C/EBP zeta
CHOP
CHOP10
GADD153
DNA damage inducible transcript 3
HDM2
MGC5370
MDM2 proto-oncogene
ALYE870
JBTS20
MKS11
PRO1886
transmembrane protein 231
Warburg-Thomsen syndrome
Yemenite deaf-blind hypopigmentation syndrome
Yemenite deaf-blind hypopigmentation syndrome is an exceedingly rare genetic disorder characterized by cutaneous pigmentation anomalies, ocular disorders and hearing loss.
Deaf blind hypopigmentation syndrome, Yemenite type
use http://www.orpha.net/ORDO/Orphanet_90642 with label: Syndromic genetic deafness
OBSOLETE: Deafness-white hair-contractures-papillomas syndrome
spastic paraplegia 49
cytochrome P450 family 2 subfamily U member 1
KIAA0725
DDHD domain containing 2
tectonin beta-propeller repeat containing 2
Conductive hearing loss-malformed external ear syndrome
Mengel-Konigsmark syndrome
Conductive deafness-malformed external ear syndrome
GPCR42
PAR2
RFVT1
Riboflavin transporter 1
hRFT1
solute carrier family 52 member 1
Groll-Hirschowitz syndrome
Deafness-small bowel diverticulosis-neuropathy syndrome is characterised by progressive sensorineural deafness, progressive sensory neuropathy and gastrointestinal abnormalities (progressive loss of gastric motility, small bowel diverticulosis).
Deafness-small bowel diverticulosis-neuropathy syndrome
Chitty-Hall-Baraitser syndrome
This syndrome is characterised by sensorineural deafness, short stature, femoral epiphyseal dysplasia, umbilical and inguinal hernias and developmental delay (growth retardation and mild intellectual deficit).
Deafness-epiphyseal dysplasia-short stature syndrome
Deafness-skeletal dysplasia-coarse face with full lips syndrome
Deafness-skeletal dysplasia-lip granuloma syndrome
Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features.
Fountain syndrome
BEEC
Bladder exstrophy-epispadias-cloacal extrophy complex
EEC
Exstrophy-Epispadias Complex (EEC) represents a spectrum of genitourinary malformations ranging in severity from epispadias (E) and classical bladder exstrophy (CEB) to exstrophy of the cloaca (EC) as the most severe form (see these terms). Depending on severity, the EEC may involve the urinary system, the musculoskeletal system, the pelvis, the pelvic floor, the abdominal wall, the genitalia and sometimes the spine and the anus.
Exstrophy-epispadias complex
Heimler syndrome
Deafness-enamel hypoplasia-nail defects syndrome is characterised by sensorineural hearing loss, generalised enamel hypoplasia of the permanent dentition with normal primary dentition, and nail defects (Beau's lines and leukonychia). Less than 10 patients have been described so far. Transmission is autosomal recessive.
Deafness-enamel hypoplasia-nail defects syndrome
patatin like phospholipase domain containing 1
Deafness-thyroid hormone resistance syndrome
Refetoff syndrome
CSNB1F
FIGLER4
Fibronectin type III, immunoglobulin and leucine rich repeat domains 4
leucine rich repeat, Ig-like and transmembrane domains 3
CD32
CD32B
Fc gamma receptor IIb
Fc fragment of IgG receptor IIb
Genetic tumor of hematopoietic and lymphoid tissues
PRPP synthetase superactivity
PRPS1 superactivity
Phosphoribosylpyrophosphate (PRPP) synthetase superactivity is an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, comprised of two forms: an early-onset severe form characterized by gout, urolithiasis, and neurodevelopmental anomalies (severe PRPP synthetase superactivity) and a mild late-onset form with no neurologic involvement (mild PRPP synthetase superactivity) (see these terms).
Phosphoribosylpyrophosphate synthetase superactivity
Pfeiffer-Kapferer syndrome
Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome is characterised by sensorineural deafness, bilateral synostosis of the 4th and 5th metacarpals and metatarsals, genital anomalies (hypospadias in males), psychomotor delay and abnormal dermatoglyphics. So far, it has been described in two unrelated patients. Facial dysmorphism was noted in both patients (prominent forehead, ear anomalies, facial asymmetry and an open mouth appearance).
Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome
Tungland-Bellman syndrome
Hearing loss-familial salivary gland insensitivity to aldosterone syndrome is characterised by bilateral moderate-to-severe sensorineural hearing loss and salivary gland insensitivity to aldosterone resulting in hyponatremia. It has been described in two brothers. Transmission appeared to be autosomal recessive.
Hearing loss-familial salivary gland insensitivity to aldosterone syndrome
Emberger syndrome
Deafness - lymphedema - leukemia is a very rare, serious syndromic genetic disorder characterized by primary lymphedema, immunodeficiency, and hematological disorders.
Deafness-lymphedema-leukemia syndrome
use http://www.orpha.net/ORDO/Orphanet_231720 with label: Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome
OBSOLETE: Neurosensory deafness-pituitary dwarfism syndrome
MOX1
mesenchyme homeobox 1
Sm-E
small nuclear ribonucleoprotein polypeptide E
OBSOLETE: Deafness-peripheral neuropathy-arterial disease syndrome
Usher syndrome 1K (autosomal recessive)
Deafness-oligodontia syndrome is characterised by sensorineural hearing loss and oligodontia/hypodontia. It has been described in two pairs of siblings and in one isolated case. Dizziness was reported in one of the pairs of siblings. Transmission appears to be autosomal recessive.
Deafness-oligodontia syndrome
Deafness-onychodystrophy syndrome is a group of rare, genetic, developmental defect during embryogenesis disorders characterized by the association of sensorineural deafness and onychodystrophy (e.g. absent/hypoplastic finger and toenails), as well as brachydactyly and finger-like thumbs. Additional features present in one of the diseases comprising this group include osteodystrophy, intellectual disability, seizures, developmental delay, and distinctive facies.
Deafness-onychodystrophy syndrome
Sellars-Beighton syndrome
Deafness-ear malformation-facial palsy syndrome is characterized by profound conductive deafness due to stapedial abnormalities associated with variable malformations of the external ears and facial paralysis. It has been described in three sibs and their mother. Inheritance is autosomal dominant.
Deafness-ear malformation-facial palsy syndrome
Cochleosaccular degeneration-cataract syndrome is characterised by progressive sensorineural hearing loss due to severe cochleosaccular degeneration and cataract. So far, it has been reported in two families. Transmission is autosomal dominant.
Cochleosaccular degeneration-cataract syndrome
CILD20
coiled-coil domain containing 114
DINE
Damage induced neuronal endopeptidase
XCE
endothelin converting enzyme like 1
51C protein
SH2 domain-containing inositol 5'-phosphatase 2
SHIP2
phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 2
inositol polyphosphate phosphatase like 1
hEPG5
ectopic P-granules autophagy protein 5 homolog
pHZ-44
zinc finger protein 141
MUPP1
multiple PDZ domain crumbs cell polarity complex component
Stapedo-vestibular ankylosis
Thies-Reis syndrome
Stapes fixation (stapedovestibular ankylosis) is a hearing loss condition that appears as a consequence of annular ligament destruction followed by excessive connective tissue production during the healing process. This condition is mainly observed in otosclerosis, but is also found in chronic otitis media with tympanosclerosis, and other rare bone diseases such as Paget's disease and osteogenesis imperfecta (Lobstein disease).
Progressive deafness with stapes fixation
Jackson-Barr syndrome
Conductive deafness-ptosis-skeletal anomalies syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by conductive hearing loss due to atresia of the external auditory canal and the middle ear complicated by chronic infection, ptosis and skeletal anomalies (internal rotation of hips, dislocation of the radial heads and fifth finger clinodactyly). In addition, a thin, pinched nose, delayed hair growth and dysplastic teeth are associated. There have been no further descriptions in the literature since 1978.
Conductive deafness-ptosis-skeletal anomalies syndrome
Deafness-Hermann type symphalangism syndrome
Facio-audio-symphalangism
Symphalangism-brachydactyly syndrome
WL syndrome
Multiple synostoses syndrome (MSS) is a rare developmental bone disorder characterized by proximal symphalangism of the fingers and/or toes often associated with fusion of carpal and tarsal, humeroradial, and cervical spine joints.
Multiple synostoses syndrome
Forney syndrome
Forney-Robinson-Pascoe syndrome
Mitral regurgitation-deafness-skeletal anomalies syndrome
Cardiospondylocarpofacial syndrome is characterized by mitral insufficiency, conductive deafness, short stature, and skeletal anomalies (bony fusion involving the cervical vertebrae, the ossicles, and the carpal and tarsal bones). It has been described in three members of one family. The mode of inheritance is likely to be autosomal dominant with incomplete penetrance.
Cardiospondylocarpofacial syndrome
Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia.
Deafness-vitiligo-achalasia syndrome
Alpha-galactosidase A deficiency
Anderson-Fabry disease
Angiokeratoma corporis diffusum
Diffuse angiokeratoma
Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations.
Fabry disease
Yoshimura-Takeshita syndrome
This syndrome is characterised by progressive calcification of the brain and spinal cord, growth retardation, psychomotor anomalies, deafness and anaemia. Renal tubular acidosis was found in one patient. To date, this syndrome has been described in only two patients from one family.
Central nervous system calcification-deafness-tubular acidosis-anemia syndrome
Deafness-craniofacial syndrome is characterised by the association of congenital hearing loss and facial dysmorphism (facial asymmetry, a broad nasal root and small nasal alae). It has been described in two members (father and daughter) of one Jewish family. Temporal alopecia was also noted. Transmission appeared to be autosomal dominant.
Deafness-craniofacial syndrome
X-linked intellectual disability due to PQBP1 mutations
X-linked intellectual disability, Renpenning type
Renpenning syndrome is an X-linked intellectual disability syndrome (XLMR, see this term) characterized by intellectual deficiency, microcephaly, leanness and mild short stature.
Renpenning syndrome
ARC
CARD2
MYP
NOP30
nucleolar protein 3
HCRP1
Hepatocellular carcinoma related protein 1
VPS37A, ESCRT-I subunit
Autosomal recessive congenital cerebellar ataxia due to metabotropic glutamate receptor 1 deficiency
Autosomal recessive spinocerebellar ataxia type 13
SCAR13
Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency is a rare, genetic, slowly progressive neurodegenerative disease resulting from MGLUR1 deficiency characterized by global developmental delay (beginning in infancy), mild to severe intellectual deficit with poor or absent speech, moderate to severe stance and gait ataxia, pyramidal signs (e.g. hyperreflexia) and mild dysdiadochokinesia, dysmetria, tremors, and/or dysarthria. Oculomotor signs, such as nystagmus, strabismus, ptosis and hypometric saccades, may also be associated. Brain imaging reveals progressive, generalized, moderate to severe cerebellar atrophy, inferior vermian hypoplasia, and/or constitutionally small brain.
Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency
Early-onset Lafora body disease is an extremely rare, inherited form of progressive myoclonic epilepsy characterized by progressive myoclonus epilepsy and Lafora bodies, with an early onset (at around 5 years) and a prolonged disease course. Other manifestations include progressive dysarthria, ataxia, cognitive decline, psychosis, dementia, spasticity, dysarthria, myoclonus, and ataxia. The disease course typically extends for several decades.
Early-onset Lafora body disease
T-cell immunodeficiency due to RHOH deficiency
T-cell immunodeficiency with epidermodysplasia verruciformis is a rare primary immunodeficiency characterized by increased susceptibility to infection by human papillomavirus, presenting in childhood with disseminated flat wart-like cutaneous lesions. Burkitt lymphoma has also been reported. Whilst total T-cell counts are normal, there is impaired TCR signaling, profound peripheral naive T-cell lymphopenia with memory T-cells displaying an exhaustion phenotype.
T-cell immunodeficiency with epidermodysplasia verruciformis
Multiple paragangliomas associated with erythrocytosis
Paraganglioma-somatostatinoma-polycythemia syndrome
Multiple paragangliomas associated with polycythemia
Acute febrile neutrophilic dermatosis
Sweet's syndrome (the eponym for acute febrile neutrophilic dermatosis) is characterized by a constellation of clinical symptoms, physical features, and pathologic findings which include fever, neutrophilia, tender erythematous skin lesions (papules, nodules, and plaques), and a diffuse infiltrate consisting predominantly of mature neutrophils that are typically located in the upper dermis.
Sweet syndrome
Severe lateral tibial bowing with short stature is a rare, genetic, primary bent bone dysplasia characterized by significant, uni-/bilateral, lateral tibial bowing localized to the distal two-thirds of the tibia, with respective cortical thickening and thinning of the inner and outer tibial curve, loss of normal trabecular bone, bilateral abnormalities of the tibial epiphyses and growth plates, as well as foot abnormalities, including abnormally high arches. Affected individuals have short stature with absence of other skeletal abnormalities.
Severe lateral tibial bowing with short stature
Del(9)(p13)
Monosomy 9p13
9p13 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial deletion of the short arm of chromosome 9, characterized by mild to moderate developmental delay, hand tremors, myoclonic jerks, attention deficit-hyperactivity disorder and a social personality. Patients also present bruxism, short stature and minor facial dysmorphic features (e.g., bilateral epicantic folds, broad, flat nasal bridge, anteverted nares, low-set ears micro/retro-gnathia).
9p13 microdeletion syndrome
Sinoatrial node dysfunction and deafness is a rare genetic disease characterized by congenital severe to profound deafness with no evidence of vestibular dysfunction, associated with sinoatrial node dysfunction with pronounced bradycardia and increased variability of heart rate at rest and episodic syncopes that may be triggered by enhanced physical activity and stress.
Sinoatrial node dysfunction and deafness
Congenital achiasma is a rare, genetic, non-syndromic cranial nerve and nuclear aplasia malformation characterized by the congenital absence of the optic chiasm, resulting from the failure of the optic nerve fibers to cross over and decussate to the contralateral hemisphere, leading to decreased vision, strabismus and congenital nystagmus in infancy.
Congenital achiasma
Mixed sclerosing bone dystrophy with extra-skeletal manifestations
HIBM4
Hereditary inclusion body myopathy type 4 is a rare non-dystrophic myopathy characterized by slowly progressive muscular weakness and atrophy initially involving proximal lower limbs and hip girdle and later on shoulder girdle, proximal upper limbs and axial muscles. Ambulation is usually preserved. Congophilic inclusions with cytoplasmic inclusions of 15-21 nm filaments on electron microscopy are revealed in muscle biopsy.
Hereditary inclusion body myopathy type 4
X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome is a rare X-linked syndromic intellectual disability disorder characterized by profound intellectual disability, global developmental delay with absent speech, seizures, large joint contractures, abnormal position of thumbs and middle-age onset of cardiomegaly and atrioventricular valve abnormalities, resulting in subsequent congestive heart failure. Additional features include variable facial dysmorphism (notably large ears with overfolded helix) and large testes.
X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome
Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome is a rare genetic disease characterized by symmetrical muscular hypertrophy, hepatomegaly, polyhydramnios, macrocephaly and mild delay in motor, speech and language development.
Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome
CDG syndrome type Is
CDG-Is
CDG1S
Congenital disorder of glycosylation type 1s
Congenital disorder of glycosylation type Is
ALG13-CDG
ARAN-NM
ARCMT2-NM
Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia
Autosomal recessive axonal neuropathy with neuromyotonia is a rare peripheral neuropathy characterized by slowly progressive axonal, motor greater than sensory polyneuropathy combined with neuromytonia (including spontaneous muscular activity at rest (myokymia), impaired muscle relaxation (pseudomyotonia), and contractures of hands and feet) and neuromyotonic or myokymic discharges on needle EMG. It presents with distal lower limb weakness with gait impairment, muscle stiffness, fasciculations and cramps in hands and legs worsened by cold, decreased to absent tendon reflexes, intrinsic hand muscle atrophy and, variably, mild distal sensory impairment.
Autosomal recessive axonal neuropathy with neuromyotonia
Hypertrophic cardiomyopathy and renal tubular disease due to mtDNA mutation
Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation is a mitochondrial oxidative phosphorylation disorder characterized by hypertrophic and dilated cardiomyopathy, failure to thrive, myopathy with generalized hypotonia and increased creatine kinase, developmental delay and/or regression with cerebral atrophy on brain MRI, renal manifestations including chronic renal failure, renal tubular acidosis and lactic acidosis. Additional clinical features include seizures and respiratory failure.
Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation
APLAID
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation is a mixed autoinflammatory and autoimmune syndrome disorder characterized by recurrent neutrophilic blistering skin lesions, arthralgia, ocular inflammation, inflammatory bowel disease, absence of autoantibodies, and mild immunodeficiency manifested by recurrent sinopulmonary infections and deficiency of circulating antibodies. Inflammatory phenotype is not provoked by cold temperatures.
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
COXPD11
Combined oxidative phosphorylation defect type 11
Aphonia-deafness-retinal dystrophy-duplicated halluces-intellectual disability syndrome
Aphonia-hearing loss-retinal dystrophy-duplicated halluces-intellectual disability syndrome
Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by moderate to severe intellectual disability, congenital aphonia, hearing loss, optic atrophy, retinal dystrophy, broad thumbs and duplicated halluces. Facial dysmorphism (incl. thick eyebrows, ptosis, long, downslanting palpebral fissures, microstomia, low-set, posteriorly rotated ears) and genital abnormalities are also associated.
Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome
Cole disease
Guttate hypopigmentation and punctate palmoplantar keratoderma
Hypopigmentation and punctate keratosis of the palms and soles
Hypopigmentation-punctate palmoplantar keratoderma syndrome
PCH8
Pontocerebellar hypoplasia due to CHMP1A mutation
gene. MRI demonstrates a pontocerebellar hypoplasia with vermis and hemispheres equally affected and mild to severely reduced cerebral white matter volume with a fully formed very thin corpus callosum.
Pontocerebellar hypoplasia type 8
Hyperinsulinemic hypoglycemia due to HNF1A deficiency
Hyperinsulinism due to HNF1A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by transient or persistent hyperinsulinemic hypoglycemia (HH) in infancy that is responsive to diazoxide, evolving in to maturity-onset diabetes of the young subtype 1 (MODY-1; see this term) later in life.
Hyperinsulinism due to HNF1A deficiency
Benign Samaritan congenital myopathy is a rare, genetic, skeletal muscle disease characterized by severe neonatal hypotonia with respiratory insufficiency, delay in motor milestones, and dysmorphic features including bitemporal narrowing, epicanthal folds and hypertelorism. Affected individuals show gradual improvement in hypotonia and muscle weakness within the first two years of life resulting in minimal clinical manifestations in adulthood.
Benign Samaritan congenital myopathy
Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain is a rare subtype of autosomal dominant intermediate Charcot-Marie-Tooth disease characterized by debilitating neuropathic pain associated with mild, distal, symmetrical lower limb sensory loss and mild or absent motor dysfunction. Patients typically manifest with burning, aching, shooting, or throbbing pain and intermittent paraesthesia in toes, heels and ankles.
Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain
FDFM
Familial dyskinesia and facial myokymia is a rare paroxysmal movement disorder, with childhood or adolescent onset, characterized by paroxysmal choreiform, dystonic, and myoclonic movements involving the limbs (mostly distal upper limbs), neck and/or face, which can progressively increase in both frequency and severity until they become nearly constant. Patients may also present with delayed motor milestones, perioral and periorbital dyskinesias, dysarthria, hypotonia, and weakness.
Familial dyskinesia and facial myokymia
Learman syndrome
Symphalangism with multiple anomalies of hands and feet is a rare, genetic, congenital limb malformation disorder characterized by bilateral symphalangism of hands and feet associated with cutaneous syndactyly of digits II-V, unilateral or bilateral brachydactyly type D (i.e. short, broad terminal phalanges of the thumbs), clinodactyly of fifth toes and/or mild hypoplasia of the thenar and hypothenar eminences. There have been no further descriptions in the literature since 1981.
Symphalangism with multiple anomalies of hands and feet
X-linked cleft palate and ankyloglossia is a rare, genetic developmental defect during embryogenesis syndrome characterized by the association of complete, partial or submucous cleft palate and ankyloglossia. Patients may also present abnormal uvula (e.g. absent, bifid, shortened or laterally deviated), short lingual frenulum and dental anomalies (e.g. buccal crossbite, absent and/or misshapen teeth). Digital abnormalities, such as mild clinodactyly and/or syndactyly, have also been reported.
X-linked cleft palate and ankyloglossia
Classic MmD
Classic multiminicore disease
Classic multiminicore myopathy
CMT2 due to KIF5A mutation
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation is a rare form of axonal peripheral sensorimotor neuropathy characterized by classical CMT2 signs and symptoms (progressive weakness and atrophy of distal limb muscles, mild sensory deficits of position, vibration and pain/temperature, pes cavus, and symmetrically absent or reduced muscle and sensory action potentials with relatively preserved nerve conduction velocities in neurophysiological studies) as well as pyramidal tract involvement (spasticity, hyperreflexia). Spasticity and pain may be the presenting symptoms.
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation
Chikungunya
Hendra virus infection is a rare viral infection disorder caused by the Hendra virus characterized by onset of flu-like symptoms (fever, myalgia, headaches, lethargy) approximately one week after having been in close contact with bodily fluids of infected horses. Neurological manifestations (e.g. vertigo, confusion, ataxia) and progressive respiratory failure, leading to death, have also been reported.
Hendra virus infection
GDS
Gardner-Diamond syndrome
Painful bruising syndrome
Psychogenic purpura
Autoerythrocyte sensitization syndrome
Invasive non-typhoidal salmonella disease
iNTS disease
in patients with underlying HIV infection, malaria or malignancy. It has a high mortality rate and patients typically present with fever, pallor and respiratory signs (cough, tachypnea, pneumonia). Gastrointestinal manifestations (diarrhea, vomit, abdominal pain) are not common. Occasionally, organ abscesses, septic shock and meningitis may be observed.
Invasive non-typhoidal salmonellosis
ABeta amyloidosis, Piedmont type
ABetaL34V-related amyloidosis
HCHWA, Piedmont type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Piedmont type is a form of HCHWA (see this term) characterized by an age of onset between 50-70 years of age, recurrent lobar intracerebral hemorrhages and cognitive decline.
ABetaL34V amyloidosis
ABetaD23N amyloidosis
HCHWA, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Iowa type is a form of HCHWA (see this term) characterized by age of onset between 50-66 years of age, memory impairment, myoclonic jerks, expressive dysphagia, short-stepped gait, personality changes and lobar intracerebral hemorrhages.
ABeta amyloidosis, Iowa type
ABetaE22K amyloidosis
HCHWA, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Italian type is a form of HCHWA (see this term) characterized by an age of onset of 50 years of age, dementia and lobar intracerebral hemorrhage.
ABeta amyloidosis, Italian type
ABeta amyloidosis, Flemish type
ABetaA21G-related amyloidosis
HCHWA, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Flemish type is a form of HCHWA (see this term) characterized by an age of onset of 45 years of age, progressive Alzheimer's disease-like dementia and lobar intracerebral hemorrhage in some patients.
ABetaA21G amyloidosis
ABetaE22G amyloidosis
HCHWA, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Arctic type is a form of HCHWA (see this term) characterized by an age of onset of 54-61 years and progressive Alzheimer's disease-like dementia, without intracerebral hemorrhages.
ABeta amyloidosis, Arctic type
CDG syndrome type Iq
CDG-Iq
CDG1Q
Congenital disorder of glycosylation type 1q
Congenital disorder of glycosylation type Iq
SRD5A3-CDG is a rare, non X-linked congenital disorder of glycosylation due to steroid 5 alpha reductase type 3 deficiency characterized by a highly variable phenotype typically presenting with severe visual impairment, variable ocular anomalies (such as optic nerve hypoplasia/atrophy, iris and optic nerve coloboma, congenital cataract, glaucoma), intellectual disability, cerebellar abnormalities, nystagmus, hypotonia, ataxia, and/or ichthyosiform skin lesions. Other reported manifestations include retinitis pigmentosa, kyphosis, congenital heart defects, hypertrichosis and abnormal coagulation.
SRD5A3-CDG
Microcephalic primordial dwarfism
Trichorhinophalangeal syndrome
Non-familial rare disease with dilated cardiomyopathy
Distal symphalangism is a very rare bone disorder characterized by ankylosis of the distal interphalangeal joints of the hands and/or feet.
Distal symphalangism
Hereditary periodic fever syndrome
Pyogenic autoinflammatory syndrome
Granulomatous autoinflammatory syndrome
Mixed autoinflammatory and autoimmune syndrome is a group of systemic diseases characterized by mixed patterns of dysregulated innate and/or adaptive immune responses, leading to chronic activation of the immune system and tissue inflammation, which presents clincially with a wide range of variable, concomitant, autoimmune and autoinflammatory manifestations in various organ systems.
Mixed autoinflammatory and autoimmune syndrome
Unclassified autoinflammatory syndrome
Periodic fever syndrome of childhood
Pyogenic autoinflammatory syndrome of childhood
Granulomatous autoinflammatory syndrome of childhood
Unclassified autoinflammatory syndrome of childhood
Unexplained periodic fever syndrome of childhood
CNO/CRMO
Chronic nonbacterial osteomyelitis (CNO), also known as chronic recurrent multifocal osteomyelitis (CRMO), is a chronic autoinflammatory syndrome that is characterized by multiple foci of painful swelling of bones, mainly in the metaphyses of the long bones, in addition to the pelvis, the shoulder girdle and the spine.
Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis
Mouth and genital ulcers with inflamed cartilage
MAGIC syndrome
ALDD syndrome
Autoinflammation-lipodystrophy-dermatosis syndrome
PRAAS
Proteasome-associated autoinflammatory syndrome
gene (6p21.3).
Proteasome disability syndrome
use http://www.orpha.net/ORDO/Orphanet_793 with label: SAPHO syndrome
Joint contractures-muscular atrophy-microcytic anemia-panniculitis-associated lipodystrophy syndrome
Joint contractures, muscle atrophy, microcytic anemia and panniculitis-induced lipodystrophy (JMP) syndrome is a rare autoinflammatory disorder belonging to the proteasome disability syndrome (see this term) group and characterized by sclerodermic skin with the presence of erythematous lesions, joint contractures, generalized or partial lipodystrophy, muscle atrophy and short stature.
JMP syndrome
Dysprothrombinemia
Hypoprothrombinemia
Prothrombin deficiency
Congenital factor II deficiency is an inherited bleeding disorder due to reduced activity of factor II (FII, prothrombin) and characterized by mucocutaneous bleeding symptoms.
Congenital factor II deficiency
Symphalangism, Cushing type
Proximal symphalangism is a very rare, genetic bone disorder characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive hearing loss in some patients.
Proximal symphalangism
Chronic atypical neutrophilic dermatosis-lipodystrophy-elevated temperature syndrome
Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome is a rare autoinflammatory disorder belonging to the proteasome disability syndrome (see this term) group and is characterized by early-onset recurrent fever, swollen violaceous eyelids, progressive lipodystrophy, arthralgia, purpuric skin lesions and delayed physical development.
CANDLE syndrome
cytochrome c oxidase subunit 7B
ninein
LINC-HELLP
Long intergenic non-protein coding RNA associated with HELLP syndrome
HELLP associated long non-coding RNA
46,XX disorder of gonadal development
46,XX DSD induced by fetoplacental androgens excess
46,XX disorder of sex development induced by fetoplacental androgens excess
46,XX DSD induced by endogenous maternal-derived androgen
46,XX disorder of sex development induced by endogenous maternal-derived androgen
46,XX DSD induced by exogenous maternal-derived androgen
46,XX disorder of sex development induced by exogenous maternal-derived androgen
Syndrome with 46,XX DSD
Syndrome with 46,XX disorder of sex development
46,XY disorder of gonadal development
Bilateral anorchia
Testicular agenesis
MRL3
mitochondrial ribosomal protein L3
CRK like proto-oncogene, adaptor protein
RNF85
TNF receptor associated factor 6
EDA-A2R
EDAA2R
TNFRSF27
XEDAR
ectodysplasin A2 receptor
Cleft lip/palate-syndactyly-pili torti syndrome
Syndactyly-ectodermal dysplasia-cleft/lip palate
Zlotogora-Zilberman-Tenenbaum syndrome
Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability.
Zlotogora-Ogur syndrome
46,XY ovotesticular DSD
46,XY ovotesticular disorder of sex development is a rare, genetic disorder of sex development characterized by either the coexistence of both male and female reproductive gonads or, more frequently, by the presence of one or both gonads containing a mixture of both testicular and ovarian tissue (ovotestes) in an individual with a normal male 46, XY karyotype. External genitalia are usually ambiguous, but can range from normal male to normal female and if a uterus and/or fallopian tubes are present, they are generally hypoplastic. Cryptorchidism, hypospadias, infertility and increased risk of gonadal tumours are frequently associated.
46,XY ovotesticular disorder of sex development
46,XY DSD of endocrine origin
46,XY disorder of sex development of endocrine origin
46,XY DSD due to impaired androgen production
46,XY disorder of sex development due to impaired androgen production
46,XY DSD due to LHB deficiency
46,XY DSD due to luteinizing hormone subunit beta deficiency
46,XY disorder of sex development due to LHB deficiency
46,XY disorder of sex development due to luteinizing hormone subunit beta deficiency
Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency
Leydig cell hypoplasia due to LHB deficiency
Type 1 syndactyly-microcephaly-intellectual disability syndrome
Filippi syndrome is characterised by microcephaly, cutaneous syndactyly of the fingers and toes, intellectual deficit, growth retardation and a characteristic facies (high and broad nasal bridge, thin alae nasi, micrognathia and a high frontal hairline). So far, less than 25 cases have been reported. Cryptorchidism, polydactyly, and teeth and hair anomalies may also be present. Transmission is autosomal recessive.
Filippi syndrome
46,XY DSD due to a cholesterol synthesis defect
46,XY disorder of sex development due to a cholesterol synthesis defect
Classic CLAH
Classic congenital lipoid adrenal hyperplasia due to STAR deficency
Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
46,XY DSD induced by maternal-exposure to endocrine disruptors
46,XY disorder of sex development induced by maternal exposure to endocrine disruptors
Sex chromosome DSD
Sex chromosome disorder of sex development
DSD of gynecological interest
Disorder of sex development of gynecological interest
46,XY DSD of gynecological interest
46,XY disorder of sex development of gynecological interest
Syndrome with DSD of gynecological interest
Syndrome with disorder of sex development of gynecological interest
Genetic DSD of gynecological interest
Genetic disorder of sex development of gynecological interest
spastic paraplegia 41 (autosomal dominant)
spastic paraplegia 36 (autosomal dominant)
Genetic DSD
Genetic disorder of sex development
Genetic 46,XX DSD
Genetic 46,XX disorder of sex development
Genetic 46,XY DSD
Genetic 46,XY disorder of sex development
Genetic 46,XY DSD of endocrine origin
Genetic 46,XY disorder of sex development of endocrine origin
Cenani syndactyly
Cenani-Lenz syndactyly
Syndactyly type 7
Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs.
Cenani-Lenz syndrome
Syndactyly-polydactyly-ear lobe syndrome
Nav1.8
PN3
SNS
hPN3
sodium voltage-gated channel alpha subunit 10
Owren disease
Parahemophilia
Proaccelerin deficiency
Congenital factor V deficiency is an inherited bleeding disorder due to reduced plasma levels of factor V (FV) and characterized by mild to severe bleeding symptoms.
Congenital factor V deficiency
Idiopathic hypereosinophilic syndrome
COX20, cytochrome c oxidase assembly factor
#945;-ketoacid dehydrogenase phosphatase
BDP
PP2C-type mitochondrial phosphoprotein phosphatase
PP2Ckappa
PP2Cm
Protein phosphatase 2C kappa
branched-chain α-ketoacid dehydrogenase phosphatase
hPTMP
protein phosphatase, Mg2+/Mn2+ dependent 1K
IL-4-STAT
signal transducer and activator of transcription 6
EGR1 binding protein 2
MADER
NGFI-A binding protein 2
brain expressed associated with NEDD4 1
ALPS
Canale-Smith syndrome
FAS deficiency
Autoimmune lymphoproliferative syndrome (ALPS) is a rare, inherited disorder characterized by non-malignant lymphoproliferation, multilineage cytopenias, and a lifelong increased risk of Hodgkin's and non-Hodgkin's lymphoma.
Autoimmune lymphoproliferative syndrome
Syngnathia-multiple anomalies syndrome
Dobrow syndrome is a rare multiple congenital defects/dysmorphic syndrome characterized by variable degrees of bony syngnathia associated with variable additional abnormalities, including growth retardation, intellectual disability, microcephaly, iris coloboma, nystagmus, deafness, and vertebral segmentation defects, as well as genital, limb and additional facial malformations, among others.
Dobrow syndrome
Syngnathia-cleft palate syndrome
Humero-radial fusion
Humero-radial synostosis is a rare, genetic, congenital joint formation defect disorder characterized by uni- or bilateral fusion of the humerus and radius bones at the elbow level, with or without associated ulnar and carpal/metacarpal deficiency, leading to loss of elbow motion and, in many cases, functional arm incapacity. Bowing of radius may be additionally present.
Humero-radial synostosis
HPH1
RAE28
polyhomeotic homolog 1
Humero-radio-ulnar fusion
Humero-radio-ulnar synostosis is an extremely rare, genetic, congenital joint formation defect disorder characterized by uni- or bilateral fusion of the humerus, radius and ulnar bones, leading to loss of elbow motion and, in most, functional arm incapacity. It may appear as distal humeral bifurcation with absent elbow joint and shortened arm length on imaging. Hand abnormalities, namely oligoectrosyndactyly, may be associated.
Humero-radio-ulnar synostosis
disrupted in renal carcinoma 3
Familial lambdoid synostosis is a rare, genetic cranial malformation characterized by unilateral or bilateral synostosis of the lambdoid suture in multiple members of a single family. Unilateral cases typically present ipsilateral occipitomastoid bulge, compensatory contralateral parietal and frontal bossing, displacement of one ear, lateral deviation of jaw and compensatory deformation of cervical spine while bilateral cases usually manifest with flat and widened occiput, displacement of both ears and frequent occurrence of raised intracranial pressure.
Familial lambdoid synostosis
TCFEB
bHLHe35
transcription factor EB
clathrin heavy chain
PPP1R140
Polypyrimidine tract binding protein associated
protein phosphatase 1, regulatory subunit 140
splicing factor proline and glutamine rich
NMT55
NRB54
Nuclear RNA-binding protein, 54-kD
P54
P54NRB
PPP1R114
non-Pou domain-containing octamer (ATGCAAAT) binding protein
protein phosphatase 1, regulatory subunit 114
non-POU domain containing octamer binding
Giuffré-Tsukahara syndrome
Tsukahara syndrome
Radioulnar synostosis-microcephaly-scoliosis syndrome, also known as Guiffré-Tsukahara syndrome, is an extremely rare syndrome characterized by the association of radioulnar synostosis with microcephaly, scoliosis, short stature and intellectual deficit.
Radioulnar synostosis-microcephaly-scoliosis syndrome
DIP-1
KIAA1323
MIB
ZZANK2
ZZZ6
mindbomb E3 ubiquitin protein ligase 1
killin
killin, p53 regulated DNA replication inhibitor
Radioulnar fusion
Congenital radioulnar synostosis is a rare bone disorder that may be isolated or associated with other disorders and that is characterized by failure of segmentation of the radius and ulna during embryological development, causing limited rotational movements of the forearm, which may lead to difficulties with some activities of daily living.
Congenital radioulnar synostosis
Congenital proconvertin deficiency
Hypoproconvertinemia
Factor VII (FVII) deficiency is a rare hereditary hemorrhagic disease caused by the diminution or absence of this coagulation factor.
Congenital factor VII deficiency
Der Kaloustian-McIntosh-Silver syndrome
Radioulnar synostosis-developmental delay-hypotonia syndrome, also known as Der Kaloustian-McIntosh-Silver syndrome, is an extremely rare syndrome with synostosis described in about 4 patients to date with clinical manifestations including congenital unilateral radioulnar synostosis, generalized hypotonia, developmental delay, and dysmorphic facial features (long face, prominent nose and ears).
Radioulnar synostosis-developmental delay-hypotonia syndrome
Radio-ulnar synostosis-retinal pigment abnormalities syndrome
GPRC1A
MGLUR1
PPP1R85
mGlu1
protein phosphatase 1, regulatory subunit 85
glutamate metabotropic receptor 1
CAMRQ2
PPP1R166
SORF-2
protein phosphatase 1, regulatory subunit 166
WD repeat domain 81
CARP
carbonic anhydrase 8
ATPIB
ATPase phospholipid transporting 8A2
KMT8D
PR/SET domain 8
Synovialosarcoma
Synovial sarcoma is an aggressive soft tissue sarcoma (see this term), occurring most commonly in adolescents and young adults (15 to 40 years), usually localized near the large joints of the extremities but also in the head and neck, mediastinum and viscera (lung, kidney etc), clinically presenting as a deep seated swelling or a painful mass often with an initial indolent course and is characterized by its local invasiveness and a propensity to metastasize. The origin of synovial sarcoma is likely from multipotent mesenchymal cells and not synovium (contrary to its name).
Synovial sarcoma
RhoH
TTF
ras homolog family member H
CACH3
CACN4
Cav1.3
calcium voltage-gated channel subunit alpha1 D
XAP121
chloride intracellular channel 2
MDS031
N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase
TDRD13
Tudor domain containing 13
YGL047W
ALG13, UDP-N-acetylglucosaminyltransferase subunit
PKCI-1
histidine triad nucleotide binding protein 1
RMD1
required for meiotic nuclear division 1 homolog
CHMP1
KIAA0047
Vps46A
charged multivesicular body protein 1A
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_90340 with label: Blau syndrome
AC5
adenylate cyclase 5
Synspondylism
Spondylocarpotarsal synostosis (SCT) syndrome is a skeletal dysplasia clinically characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism.
Spondylocarpotarsal synostosis
Disorder of plasmalogens biosynthesis
A gene in which a mutation is suspected, but not yet proven, to be responsible for a disorder, but for which a genetic test (s) is (are) available
candidate gene tested in
Nucleolysin TIA-1 isoform p40
T-cell-restricted intracellular antigen-1
TIA1 cytotoxic granule associated RNA binding protein
Congenital Stuart factor deficiency
Stuart-Prower factor deficiency
Congenital factor X deficiency is an inherited bleeding disorder with a decreased antigen and/or activity of factor X (FX) and characterized by mild to severe bleeding symptoms.
Congenital factor X deficiency
Hydromyelia
Syringomyelia is characterised by cerebrospinal fluid (CSF)-filled cavities (syrinx) inside the spinal cord, either as a result of a known cause (secondary syringomyelia, SS) or, more rarely, due to an unknown cause (primary syringomyelia, PS).
Syringomyelia
Chaotic atrial tachycardia
Multifocal atrial tachycardia is a rare supraventricular arrhythmia in neonates and young infants that is characterized by multiple P waves with varying P wave morphology and is usually asymptomatic.
Multifocal atrial tachycardia
use http://www.orpha.net/ORDO/Orphanet_294955 with label: Syndrome with limb reduction defects
OBSOLETE: Rare bone disease with limb reduction defect
JET
Junctional ectopic tachycardia
His bundle tachycardia is a very rare congenital genetic tachyarrhythmia characterized by incessant tachycardia and high morbidity and mortality.
His bundle tachycardia
OBSOLETE: Tachycardia-hypertension-microphthalmos-hyperglycinuria syndrome
Bidirectional tachycardia induced by catecholamine
CPVT
Double tachycardia induced by catecholamines
Malignant paroxysmal ventricular tachycardia
Multifocal ventricular premature beats
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a severe genetic arrhythmogenic disorder characterized by adrenergically induced ventricular tachycardia (VT) manifesting as syncope and sudden death.
Catecholaminergic polymorphic ventricular tachycardia
AD035
Bile acid beta-glucosidase
KIAA1605
Non-lysosomal glucosylceramidase
glucosylceramidase beta 2
KIAA0806
leucine rich repeats and immunoglobulin like domains 2
RALDH3
Retinaldehyde dehydrogenase 3
aldehyde dehydrogenase 1 family member A3
NCKX4
solute carrier family 24 member 4
Takayasu arteritis (TAK) is a rare inflammatory large-vessel vasculitis primarily affecting the aorta and its major branches, but also other large vessels, causing stenosis, occlusion, or aneurysm.
Takayasu arteritis
Nesp4
Nesprin-4
spectrin repeat containing nuclear envelope family member 4
QCR2
UQCR2
ubiquinol-cytochrome c reductase core protein 2
MYOP
Sarcomeric protein myopalladin, 145 kDa
myopalladin
Taurodontism is a dental anomaly characterized by an elongated pulp chamber, displaced toward the apical floor of the tooth with no constriction at the level of the cemento-enamel junction, and short roots. It most frequently affects permanent molar teeth. Taurodontism increases the risk of pulp exposure. It can be isolated or associated with certain syndromes such as Down syndrome, amelogenesis imperfecta, and Klinefelter syndrome (see these terms).
Taurodontism
CD49b
alpha 2 subunit of VLA-2 receptor
integrin subunit alpha 2
CPAMD7
CD109 molecule
NaN
Nav1.9
SNS-2
sodium voltage-gated channel alpha subunit 11
INK4D
cyclin dependent kinase inhibitor 2D
trnT
mitochondrially encoded tRNA threonine
Hemophilia C
PTA deficiency
Plasma thromboplastin antecedent deficiency
Rosenthal factor deficiency
Rosenthal syndrome
Congenital factor XI deficiency is an inherited bleeding disorder characterized by reduced levels and activity of factor XI (FXI) resulting in moderate bleeding symptoms, usually occurring after trauma or surgery.
Congenital factor XI deficiency
Teebi-Shaltout syndrome is a rare, genetic, development defect during embryogenesis malformation syndrome characterized by association of characteristic facial features (including abnormal head shape with narrow forehead, hypertelorism, telecanthus, small earlobes, broad nasal bridge and tip, underdeveloped ala nasi, small/wide mouth and high/cleft palate), ectodermal dysplasia (including oligodontia with delayed dentition, slow growing hair and reduced sweating) and skeletal abnormalities including camptodactyly and caudal appendage. Short stature and abnormal palmar creases are additional clinical features.
Teebi-Shaltout syndrome
Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis
CDG syndrome type Iu
CDG-Iu
CDG1U
CMD with intellectual disability and severe epilepsy
Carbohydrate deficient glycoprotein syndrome type Iu
Congenital disorder of glycosylation type 1u
Congenital disorder of glycosylation type Iu
DPM2-CDG
Congenital muscular dystrophy with intellectual disability and severe epilepsy is a rare, fatal, inborn error of metabolism disorder characterized by respiratory distress and severe hypotonia at birth, severe global developmental delay, early-onset intractable seizures, myopathic fascies with craniofacial dysmorphism (trigonocephaly/progressive microcephaly, low anterior hairline, arched eyebrows, hypotelorism, strabismus, small nose, prominent philtrum, thin upper lip, high-arched palate, micrognathia, malocclusion), severe, congenital flexion joint contractures and elevated serum creatine kinase levels. Scoliosis, optic atrophy, mild hepatomegaly, and hypoplastic genitalia may also be associated.
Congenital muscular dystrophy with intellectual disability and severe epilepsy
Tall stature-scoliosis-macrodactyly of the halluces syndrome
Tall stature-scoliosis-macrodactyly of the great toes syndrome is a rare, genetic, overgrowth or tall stature syndrome with skeletal involvement characterized by early and proportional overgrowth, osteopenia, lumbar scoliosis, arachnodactyly of the hands and feet, macrodactyly of the hallux, coxa valga with epiphyseal dysplasia of the femoral capital epiphyses and susceptibility to slipped capital femoral epiphysis.
Tall stature-scoliosis-macrodactyly of the great toes syndrome
Developmental delay with ASD and gait instability
Developmental delay with autism spectrum disorder and gait instability is a rare, genetic, neurological disorder characterized by infant hypotonia and feeding difficulties, global development delay, mild to moderated intellectual disability, delayed independent ambulation, broad-based gait with arms upheld and flexed at the elbow with brisk walking or running, and limited language skills. Behavior patterns are highly variable and range from sociable and affectionate to autistic behavior.
Developmental delay with autism spectrum disorder and gait instability
Tel Hashomer camptodactyly syndrome is a rare syndrome characterized by camptodactyly, muscle hypoplasia and weakness, skeletal anomalies, facial dysmorphism and abnormal dermatoglyphics.
Tel Hashomer camptodactyly syndrome
use http://www.orpha.net/ORDO/Orphanet_370953 with label: Congenital muscular dystrophy due to dystroglycanopathy
OBSOLETE: Congenital muscular dystrophy-muscle hypertrophy-severe intellectual disability syndrome
ADNIV
Autosomal dominant neovascular inflammatory vitreoretinopathy is a rare, genetic, vitreoretinal degeneration characterized by a slowly progressive vitreoretinopathy with onset during the second or third decade of life. The disease initially presents as autoimmune uveitis with reduction in the b-wave on electroretinography, and progresses with development of photoreceptor degeneration, vitreous hemorrhage, cystoid macular edema, retinal neovascularization, intraocular fibrosis, secondary glaucoma, and retinal detachment leading to phthisis and complete blindness.
Autosomal dominant neovascular inflammatory vitreoretinopathy
CSVT
Cerebral sinovenous thrombosis
Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome is a rare, genetic, syndromic intellectual disability syndrome characterized by mild to moderate intellectual disability, developmental delay (with speech and language development more severely affected) and facial dysmorphism which typically includes full, arched eyebrows, hypertelorism, down-slanting palpebral fissures, long eyelashes, ptosis, low-set, simple ears, bulbous nasal tip, flat philtrum, wide mouth with downturned corners and thin upper lip and diastema of the teeth. Association with infantile hypotonia, seizures, cryptorchidism in males and congenital abnormalities, including cardiac, cerebral or occular defects, may be observed.
Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome
Microcephalic primordial dwarfism, Walsh type
Microcephalic primordial dwarfism due to ZNF335 deficiency is characterized by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur.
Microcephalic primordial dwarfism due to ZNF335 deficiency
IGSF1 deficiency syndrome
X-linked central congenital hypothyroidism with late-onset macroorchidism
X-linked central congenital hypothyroidism with late-onset testicular enlargement is a rare, genetic, endocrine disease characterized by central hypothyroidism, testis enlargement in adolescence resulting in adult macroorchidism, delayed pubertal testosterone rise with a subsequent delayed pubertal growth spurt, small thyroid gland, and variable prolactin and growth hormone deficiency.
X-linked central congenital hypothyroidism with late-onset testicular enlargement
Congenital chronic diarrhea with exudative enteropathy
Congenital chronic diarrhea with protein-losing enteropathy is a rare, genetic, intestinal disease characterized by early-onset, chronic, non-infectious, non-bloody, watery diarrhea associated with protein-losing enteropathy which results in hypoalbuminemia, hypogammaglobulinemia and elevated stool alpha-1-antitrypsin. Patients typically present severe, intractable diarrhea, failure to thrive, recurrent infections and edema.
Congenital chronic diarrhea with protein-losing enteropathy
Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
Spondylocostal dysostosis-hypospadias-intellectual disability syndrome is a rare, genetic, bone developmental disorder characterized by generalized vertebral segmentation and fusion defects, disproportionate short stature (with predominant truncal shortness) and thoracolumbar scoliosis, associated with mild intellectual disability, hypospadias, partial cutaneous finger syndactyly and mild swan neck-like deformities of the fingers.
Spondylocostal dysostosis-hypospadias-intellectual disability syndrome
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_2707 with label: Oculocerebrofacial syndrome, Kaufman type
Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency
Autosomal dominant Charcot-Marie-Tooth disease type 2Q is a rare subtype of autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by adolescent to adulthood-onset of symmetrical, slowly progressive distal muscle weakness and atrophy (with a predominant weakness of the distal lower limbs) associated with reduced or absent deep tendon reflexes, pes cavus and mild to moderated deep sensory impairment.
Autosomal dominant Charcot-Marie-Tooth disease type 2Q
BPAN
NBIA5
Neurodegeneration with brain iron accumulation type 5
SENDA
Static encephalopathy of childhood with neurdegeneration in adulthood
Beta-propeller protein-associated neurodegeneration (BPAN), also known as static encephalopathy of childhood with neurodegeneration in adulthood, is a rare form of neurodegeneration with brain iron accumulation (NBIA) characterized by early-onset developmental delay and further neurological deterioration in early adulthood.
Beta-propeller protein-associated neurodegeneration
Telecanthus-hypertelorism-strabismus-pes cavus syndrome is characterized by telecanthus, hypertelorism, strabismus, pes cavus and other variable anomalies. It has been described in a father and his son. The son also had hypospadias, bilateral inguinal hernia, clinodactyly and camptodactyly of the fingers, and radiographic findings including flared metaphyses of the long bones and osteopenia.
Telecanthus-hypertelorism-strabismus-pes cavus syndrome
PLAN
PLA2G6-associated neurodegeneration
FAHN
Fatty acid hydroxylase-associated neurodegeneration (FAHN) is a very rare, autosomal recessive form of neurodegeneration with brain iron accumulation (NBIA) characterized by childhood-onset focal dystonia, progressive spastic paraplegia that progresses to tetra paresis, ataxia, dysarthria, intellectual decline, and oculomotor disturbances (optic atrophy), accompanied by iron deposition in the globus pallidus.
Fatty acid hydroxylase-associated neurodegeneration
Adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency
Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency is an extremely rare multiple mitochondrial DNA deletion syndrome with markedly decreased deoxyguanosine kinase (DGUOK) activity in skeletal muscle characterized by a highly variable phenotype. Clinical manifestations include progressive external ophthalmoplegia, mitochondrial myopathy, recurrent rhabdomyolysis, lower motor neuron disease, mild cognitive impairment, sensory axonal neuropathy, optic atrophy, ataxia, hypogonadism and/or parkinsonism.
Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
Familial thrombocytosis with transverse limb defect
Hereditary thrombocytosis with transverse limb defect
Thrombocythemia with distal limb defects is a rare, genetic syndrome with limb reduction defects characterized by thrombocytosis, unilateral transverse limb defects (ranging from absence of phalanges to absence of hand or forearm) and splenomegaly.
Thrombocythemia with distal limb defects
Cutaneous hemangioma with muscle or bone atrophy
Inverse Klippel-Trénaunay syndrome
Autosomal recessive frontotemporal pachygyria is a cerebral malformation characterized by symmetric, bilateral pachygyria with normal head circumference and without polymicrogyria. Clinical manifestations include developmental delay, moderate intellectual disability, normal or slightly decreased muscle tone and deep-tendon reflexes, telecanthus or hypertelorism.
Autosomal recessive frontotemporal pachygyria
Microcephaly-cerebellar hypoplasia-congenital heart conduction defect syndrome
Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome is a rare, genetic congenital anomalies/dysmorphic syndrome characterized by growth failure, global developmental delay, profound intellectual disability, autistic behaviors, acquired second-degree heart block with bradycardia and vasomotor instability. Hands and feet present with long fusiform fingers, campto-clinodactyly and crowded toes while craniofacial dysmorphism includes microcephaly, broad forehead, thin eyebrows, upslanting palpebral fissures, large ears with prominent antihelix, prominent nose, long philtrum, thin upper lip vermillion and prominent lower lip. Neurological signs include hypotonia, brisk reflexes, dystonic-like movements and truncal ataxia and imaging shows cerebellar hypoplasia and simplified gyral pattern.
Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome
Adult-onset CPEO with mitochondrial myopathy
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy is a rare mitochondrial disease characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, manifestations of spinocerebellar ataxia (e.g. impaired gait, dysarthria) and mild motor peripheral neuropathy. Respiratory insufficiency has been reported in some cases.
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
Limbic encephalitis with DPPX antibodies
Limbic encephalitis with dipeptidyl-peptidase 6 antibodies
Limbic encephalitis with DPP6 antibodies is a rare brain inflammatory disease characterized by subacute or insidious onset of variable neurological features including cognitive dysfunction (memory impairment, hallucinations, confusion, amnesia), central hyperexcitability (agitation, tremor, myoclonus, exaggerated startle), brain stem involvement (dysphagia, dysarthia, ataxia) and disturbed sleep. Symptoms of dysautonomia include diarrhea, gastroparesis, and constipation.
Limbic encephalitis with DPP6 antibodies
Hapnes-Boman-Skeie syndrome
Extensor tendons of finger anomalies is a rare, genetic, congenital limb malformation characterized by bilateral anomalous attachment of the extensor tendons of the four ulnar fingers. Attachment occurrs to the medial and lateral aspects of the middle phalanges leading to constant flexion in the midphalangeal joints and inability to extend the fingers. There have been no further descriptions in the literature since 1980.
Extensor tendons of finger anomalies
DA5D
Distal arthrogryposis type 5 without ophthalmoparesis
Distal arthrogryposis type 5 without ophthalmoplegia
Distal arthrogryposis type 5D is a rare subtype of distal arthrogryposis syndrome characterized by arthrogryposis multiplex congenita affecting the hands, feet, ankle, shoulders and/or neck, with camptodactyly of the fingers and limited knee and hip extension, associated with asymmetric ptosis and, less frequently, other ocular manifestations (e.g. ophthalmoplegia, strabismus). Affected individuals frequently have a bulbous nose, furrowed tongue, micro/retrognathia, a short neck, congenital hip dislocation, club feet, scoliosis and short stature.
Distal arthrogryposis type 5D
DYT25
Dystonia 25
Autosomal dominant focal dystonia, DTY25 is a form of focal dystonia (see this term), characterized by cervical, laryngeal and hand-forearm dystonia (see these terms).
Autosomal dominant focal dystonia, DYT25 type
Non-DS-AMKL
Acute megakaryoblastic leukemia without Down syndrome
Spastic paraplegia-Paget disease of bone syndrome is an extremely rare, complex form of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with increased muscle tone, decreased strength in the anterior tibial muscles and hyperreflexia in the lower extremities with Babinski sign) presenting in adulthood, associated with Paget disease of the bone. Cognitive decline, dementia and myopathic changes at muscle biopsy have not been reported.
Spastic paraplegia-Paget disease of bone syndrome
Adult-onset distal myopathy due to VCP mutation is a rare, genetic distal myopathy disorder characterized by middle age-onset of distal leg muscle weakness, atrophy in the anterior compartment resulting in foot drop, without proximal or scapular skeletal muscle weakness. Rapidly progressive dementia, Paget disease of bone and hand weakness have been reported. Muscle biopsy shows pronounced myopathic changes with rimmed vacuoles.
Adult-onset distal myopathy due to VCP mutation
LPG
Lipoprotein glomerulopathy
Familial Hibernian fever
TNF receptor 1-associated periodic syndrome
TRAPS syndrome
Tumor necrosis factor receptor 1 associated periodic syndrome (TRAPS) is a periodic fever syndrome, characterized by recurrent fever, arthralgia, myalgia and tender skin lesions lasting for 1 to 3 weeks, associated with skin, joint, ocular and serosal inflammation and complicated by secondary amyloidosis (see this term).
Tumor necrosis factor receptor 1 associated periodic syndrome
Dup(5)(p13)
Trisomy 5p13
5p13 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy characterized by global developmental delay, intellectual disability, autistic behavior, muscular hypotonia, macrocephaly and facial dysmorphism (frontal bossing, short palpebral fissures, low set, dysplastic ears, short or shallow philtrum, high arched or narrow palate, micrognathia). Other associated clinical features include sleep disturbances, seizures, aplasia/hypoplasia of the corpus callosum, skeletal abnormalities (large hands and feet, long fingers and toes, talipes).
5p13 microduplication syndrome
Androgenetic/biparental mosaicism
Genome-wide paternal uniparental disomy mosaicism
Mosaic genome-wide paternal UPD
Mosaic genome-wide paternal uniparental disomy
IGCM
Idiopathic giant cell myocarditis
Hypertrophic gastropathy without hypoproteinemia
Non-hypoproteinemic hypertrophic gastropathy is a rare gastroesophageal disease characterized by diffusely enlarged gastric folds, excessive mucus secretion, normal serum protein and gastric TGF-alpha levels. Patients typically present anemia, abdominal pain not related to eating or bowel habits and absence of peripheral edema.
Non-hypoproteinemic hypertrophic gastropathy
JIIM
Juvenile idiopathic inflammatory myopathy
Juvenile overlap myositis is a rare juvenile idiopathic inflammatory myopathy characterized by the association of inflammatory myositis (manifesting with acral erythema, progressive weakness of the limbs, pain, general fatigue, moodiness or crankiness) with clinical and/or laboratory features of other autoimmune diseases (e.g. systemic lupus erythematosus, localized scleroderma, diabetes). Cardiac involvement has been reported in some patients.
Juvenile overlap myositis
and characterized by spasms and contractions of the skeletal muscles.
Tetanus
Ig-mediated MPGN
Ig-mediated membranoproliferative glomerulonephritis
Immunoglobulin-mediated MPGN
Immunoglobulin-mediated membranoproliferative glomerulonephritis
C3 glomerulopathy
Non-Ig-mediated MPGN
Non-Ig-mediated membranoproliferative glomerulonephritis
Non-immunoglobulin-mediated MPGN
Non-immunoglobulin-mediated membranoproliferative glomerulonephritis
C3 glomerulonephritis
Transient neonatal MAD deficiency
Transient neonatal MADD
Transient neonatal glutaric acidemia type 2
Transient neonatal glutaric aciduria type 2
Transient neonatal multiple acyl-CoA dehydrogenase deficiency describes a very rare condition where a maternal riboflavin deficiency causes an infant to present with manifestations similar to those seen in multiple acyl-CoA dehydrogenase (MAD) deficiency (see this term) such as poor suck, metabolic acidosis and hypoglycemia, but that resolves completely with oral riboflavin. In the one patient described haploinsufficiency of the human riboflavin transporter (hRFT1) was described in the mother.
Transient neonatal multiple acyl-CoA dehydrogenase deficiency
Intermittent hydrarthrosis
Generalized juvenile polyposis/juvenile polyposis coli
Classic appendiceal neuroendocrine tumor
Classic appendix neuroendocrine tumor
Classic endocrine tumor of the appendix is a type of endocrine tumor of the appendix (see this term), seen twice as frequently in females than in males, and usually presenting before the fifth decade of life. Classic endocrine tumor of the appendix is usually asymptomatic when located in the tip of the appendix (without obstruction), but acute appendicitis is often associated.
Classic neuroendocrine tumor of appendix
GCC
Goblet cell adenocarcinoid
Goblet cell carcinoid
Goblet cell tumor
Goblet cell carcinoma (GCC) is an aggressive type of endocrine tumor of the appendix (see this term) presenting equally in males and females in the fifth decade of life and manifesting with a palpable mass and abdominal pain or acute appendicitis. Metastasis to the ovaries, peritoneum or right colon has usually already occurred in half of patients at the time of diagnosis.
Goblet cell carcinoma
Isovaleric acid CoA dehydrogenase deficiency
Isovaleric acidemia (IVA) is an autosomal recessively inherited organic aciduria characterized by a deficiency in isovaleryl-CoA dehydrogenase, that has wide clinical variability and that can present in infancy with acute manifestations of vomiting, failure to thrive, seizures, lethargy, a characteristic ''sweaty feet'' odor, acute pancreatitis and mild to severe developmental delay or in childhood with metabolic acidosis (brought on by prolonged fasting, an increased intake of protein-rich food or infections) and that can be fatal if not treated immediately. Chronic intermittent presentations and asymptomatic patients have also been reported.
Isovaleric acidemia
Congenital Hageman factor deficiency
Congenital factor XII deficiency is an autosomal recessive systemic dysfunction of the hemostatic pathway, that is due to a defect in the coagulation factor XII (FXII or Hageman factor), and is either asymptomatic or characterized by a prolonged activated partial thromboplastin time and an increased risk for thromboembolism. FXII deficiency is strongly associated with primary recurrent abortions.
Congenital factor XII deficiency
ATTRwt amyloidosis
ATTRwt-related amyloidosis
SSA
Senile systemic amyloidosis
Wild type ATTR-related amyloidosis
Wild type ATTR amyloidosis
Lymphedema - distichiasis is a rare syndromic lymphedema disorder characterized by lower-limb lymphedema and varying degrees of abnormal growth of eyelashes from the orifices of the Meibomian glands (distichiasis), with occasional associated manifestations.
Lymphedema-distichiasis syndrome
Lead intoxication
Plumbism
Saturnism
5 ug/dL) is reported to lead to irreversible effects such as loss of cognition, shortening of attention span, alteration of behavior, dyslexia, attention deficit disorder, hypertension, renal impairment, immunotoxicity and toxicity to the reproductive organs.
Lead poisoning
Hydrargyria
Mercurialism
Mercury intoxication
Mercury poisoning is caused mainly through ingestion or inhalation of any of the 3 forms of mercury, elemental, organic, and inorganic. Exposure to elemental mercury affects the pulmonary (inhalation of mercury vapors causes coughing, chills, fever, shortness of breath), dermatological (mild swelling, vesiculation, scaling, irritation, urticaria, erythema and allergic contact dermatitis accompanied by pain), and peripheral and central nervous (CNS) systems (depression, paranoia, extreme irritability, hallucinations, inability to concentrate, memory loss, hands, head, lips, tongue, jaw and eyelids tremors, weight loss, perpetually low body temperature, drowsiness, headaches, insomnia, fatigue). Exposure to inorganic mercury generally causes development of a metallic taste, local oropharyngeal pain, nausea, vomiting, bloody diarrhea, colic abdominal pain, renal dysfunction and, neurologic abnormalities; while that to organic mercury can lead to delayed neurotoxicity.
Mercury poisoning
Hypotrichosis-deafness syndrome
HbLepore-beta-thalassemia syndrome
Lepore-beta-thalassemia syndrome
Hemoglobin Lepore-beta-thalassemia syndrome
M hemoglobinopathy
Hemoglobin M disease
DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect
Congenital cataract-progressive muscular hypotonia-deafness-developmental delay syndrome
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome is a rare, genetic, mitochondrial myopathy disorder characterized by congenital cataract, progressive muscular hypotonia that particularly affects the lower limbs, reduced deep tendon reflexes, sensorineural hearing loss, global development delay and lactic acidosis. Muscle biopsy reveals reduced complex I, II and IV respiratory chain activity.
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
Hydroa vacciniforme
Familial polymorphous light eruption of American Indians
Hereditary polymorphous light eruption of American Indians
Hutchinson summer prurigo
Hydroa aestivale
Actinic prurigo
Actinic reticuloid
Chronic photosensitivity dermatitis
. Resolution of photosensitivity is reported in up to 50% of individuals after 15 years or more, with contact allergies persisting.
Chronic actinic dermatitis
Zimmer phocomelia
Tetraamelia - multiple malformations is an extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
Tetraamelia-multiple malformations syndrome
Genetic MCA/variable MR
Genetic multiple congenital anomalies-variable intellectual disability with or without dysmorphism syndrome
Genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
Genetic MCA
Genetic multiple congenital anomalies without intellectual disability (with or without dysmorphism)
Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
IGCD1
IGDC1
INHBP
KIAA0364
PGSF2
immunoglobulin superfamily member 1
Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy.
Tetralogy of Fallot
PIG4
TP53I4
serum amyloid A1
Bindewald-Ulmer-Müller syndrome
Fallot complex - intellectual deficit - growth delay is a rare disorder characterized by tetralogy of Fallot, minor facial anomalies, and severe intellectual deficiency and growth delay.
Fallot complex-intellectual disability-growth delay syndrome
Tetraploidy is an extremely rare chromosomal anomaly, polyploidy, when an affected individual has four copies of each chromosome, instead of two, resulting in total of 92 chromosomes in each cell. The phenotype is severe with multiple congenital anomalies, including central nervous system, ocular, cardiac, renal, and/or genital malformations and limb defects. Most patients show severe intrauterine groth retardation, hypotonia, failure to thrive and developmental delay. It is usually associated with miscarriage.
Tetraploidy
Invdup(15)
Isodicentric 15 chromosome
Non-distal tetrasomy 15q
Non-telomeric tetrasomy 15q
idic(15)
The duplication/inversion 15q11 or isodicentric 15 chromosome (inv dup(15) or idic(15)) syndrome is a chromosomal disorder with distinctive clinical findings characterized by early central hypotonia, developmental delay and intellectual deficit, epilepsy, and autistic behavior.
Duplication/inversion 15q11
beta-1,3-N-acetylgalactosaminyltransferase 2
actinin alpha 1
Jansen's metaphyseal chondrodysplasia (JMC) is a very rare autosomal dominant skeletal dysplasia characterized by short-limbed short stature (due to severe metaphyseal changes that are often discovered in childhood by imaging), waddling gait, bowed legs, contracture deformities of the joints, short hands with clubbed fingers, clinodactyly, prominent upper face and small mandible, as well as chronic parathyroid hormone-independent hypercalcemia, hypercalciuria, and mild hypophosphatemia.
Metaphyseal chondrodysplasia, Jansen type
KIAA1088
NHL
RTEL
regulator of telomere elongation helicase 1
P2X2
purinergic receptor P2X 2
Severe myoclonic epilepsy of infancy
Severe myoclonus epilepsy of infancy
Dravet syndrome (DS) is a genetic epilepsy of childhood characterized by a variety of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment.
Dravet syndrome
Isochromosome 18p
Tetrasomy 18p is a very rare structural chromosomal anomaly affecting multiple body systems and characterized clinically by craniofacial abnormalities, delayed development, cognitive impairment, changes in muscle tone, distinctive facial features, and rarely renal malformations.
Tetrasomy 18p
HEB
HTF4
Helix-loop-helix transcription factor 4
bHLHb20
p64
transcription factor 12
CILD21
dynein regulatory complex subunit 1
ADMCKD
ADMCKD1
CD227
MCKD
PEM
mucin 1, cell surface associated
ALG14, UDP-N-acetylglucosaminyltransferase subunit
SOSS-B2
SSB2
Sensor of single-strand DNA complex subunit B2
Single-stranded DNA-binding protein 2
hSSB2
nucleic acid binding protein 1
D4Ertd89e
TRIC-B
transmembrane protein 38B
DAGK6
DGK
diacylglycerol kinase epsilon
T-cell antigen receptor, beta polypeptide, T-cell receptor, beta cluster
T-cell receptor beta locus
T-cell receptor alpha locus
TCRDV1
T-cell receptor delta locus
Isochromosome 5p
Tetrasomy 5p is a rare chromosomal anomaly syndrome with variable phenotype principally characterized by developmental delay, growth retardation/short stature, hypotonia, seizures, venriculomegaly, hand and foot anomalies (e.g. clinodactyly, overlapping toes) and mosaic pigmentary skin changes. Patients may also present minor dysmorphic craniofacial features (incl. macrocephaly, upslanting palpebral fissures, hypertelorism, abnormal auricles, anteverted nasal tip, midface hypoplasia).
Tetrasomy 5p
T-cell antigen receptor, gamma polypeptide
T-cell rearranging gene, gamma
T-cell receptor, gamma cluster
T-cell receptor gamma locus
TCL1
T cell leukemia/lymphoma 1A
Homeo box-11 (T-cell leukemia-3 associated breakpoint, homologous to Drosophila Notch)
homeo box 11 (T-cell lymphoma 3-associated breakpoint)
T cell leukemia homeobox 1
RNX
T cell leukemia homeobox 3
Fibrin-stabilizing factor deficiency
Congenital factor XIII deficiency is an inherited bleeding disorder due to reduced levels and activity of factor XIII (FXIII) and characterized by hemorrhagic diathesis frequently associated with spontaneous abortions and defective wound healing. Factor XIII deficiency is one of the most rare coagulation factor deficiencies.
Congenital factor XIII deficiency
Isochromosome 9p
Tetrasomy 9p is a rare autosomal anomaly characterized by pre- and postnatal growth retardation, psychomotor delay, mild to moderate intellectual disability, hypotonia, microcephaly, dysmorphic features (ocular hypertelorism, low-set, malformed ears, bulbous/beaked nose, microretrognathia, enophthalmos/micropthalmia, epicanthus, strabismus), cleft lip/palate, skeletal abnormalities (hypoplastic nails/distal phalanges, short stature, short neck, contractures), congenital heart defects, renal and urogenital malformations (renal hypoplasia, genital hypoplasia, cryptorchidism).
Tetrasomy 9p
Autosomal recessive lethal multiple pterygium syndrome
LMPS
Lethal multiple pterygium syndrome (LMPS) is a rare association of anomalies of the skin, muscles and skeleton.
Lethal multiple pterygium syndrome
OBSOLETE: Infantile symmetrical thalamic degeneration
Agammaglobulinemia, non-Bruton type
Agammaglobulinemia, non-Bruton type (autosomal agammaglobulinemia) is a rare form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by variable immune dysfunction with frequent and recurrent bacterial infections and/or chronic diarrhea.
Autosomal agammaglobulinemia
Granulomatous slack skin (GSS) is a variant of mycosis fungoides (MF; see this term), a form of cutaneous T-cell lymphoma, and is characterized by the presence of circumscribed areas of pendulous lax skin.
Granulomatous slack skin
SCN4
Severe congenital neutropenia type 4
Severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome
gene. Cardiac malformations (e.g. atrial septal defects, patent ductus arteriosus,valvular defects), urogenital anomalies (incl. cryptorchidism), growth and developmental delay, facial dysmorphism (e.g. frontal bossing, upturned nose, malar hypoplasia), and intermittent thrombocytopenia are frequently associated.
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
Constitutional neutropenia with extra-hematopoietic manifestations
Immunodeficiency due to MASP-2 deficiency is a rare, genetic immunodeficiency due to a complement cascade protein anomaly characterized by low serum levels of MASP-2 and a variable susceptibility to bacterial infections (e.g. pulmonary tuberculosis, pneumococcal pneumonia, skin abscesses and sepsis), and autoimmune diseases (e.g. inflammatory lung disease, cystic fibrosis, systemic lupus erythematosus). In many cases it remains asymptomatic.
Immunodeficiency due to MASP-2 deficiency
to childhood-onset recurrent pulmonary infections leading to brain abscesses and pulmonary fibrosis, to membranous nephropathy. In some patients, clinical consequences of ficolin3 deficiency were not clear.
Immunodeficiency due to ficolin3 deficiency
Other immunodeficiency syndromes due to defects in innate immunity
Fetal thalidomide syndrome
exposure (between 20-36 days after fertilization) to thalidomide, a sedative used in treatment of a range of conditions, including morning sickness, leprosy and multiple myeloma (see these terms). Thalidomine embryopathy is characterized by phocomelia, amelia, forelimb and hand plate anomalies (absence of humerus and/or forearm, femur and/or lower leg, thumb anomalies). Other anomalies include facial hemangiomas, and damages to ears (anotia, microtia), eyes (microphthalmia, anophthalmos, coloboma, strabismus), internal organs (kidney, heart, and gastrointestinal tract), genitalia, and heart. Infant mortality associated with thalidomide embryopathy is estimated to be as high as 40%. Thalidomide is contraindicated in pregnancy and pregnancy prevention is recommended in women under treatment.
Thalidomide embryopathy
SCID due to complete RAG1/2 deficiency
Severe combined immunodeficiency due to complete RAG1/2 deficiency is a rare, genetic T-B- severe combined immunodeficiency disorder due to null mutations in recombination activating gene (RAG) 1 and/or RAG2 resulting in less than 1% of wild type V(D)J recombination activity. Patients present with neonatal onset of life-threatening, severe, recurrent infections by opportunistic fungal, viral and bacterial micro-organisms, as well as skin rashes, chronic diarrhea, failure to thrive and fever. Immunologic observations include profound T- and B-cell lymphopenia, normal NK counts and low or absent serum immunoglobulins; some patients may have eosinophilia.
Severe combined immunodeficiency due to complete RAG1/2 deficiency
Syndrome with combined immunodeficiency
Immunodeficiency due to absence of thymus
Hyper-IgE syndrome
Autosomal recessive hyper-IgE syndrome due to TYK2 deficiency
Susceptibility to infection due to TYK2 deficiency is a rare primary immunodeficiency characterized by increased susceptibility to intracellular bacterial and viral infection, with or without increased serum IgE. Clinical manifestations are highly variable, depending on the infection type and location, and can include recurrent otitis, sinusitis, pulmonary and cutaneous infections, meningitis and internal abscesses.
Susceptibility to infection due to TYK2 deficiency
Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells
Selective immunoglobulin M deficiency
Selective IgM deficiency
Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells
Other immunodeficiency syndrome with predominantly antibody defects
Immunodeficiency syndrome with hypopigmentation
OBSOLETE: Intellectual disability-microcephaly-unusual facies syndrome
Aseptic necrosis of phalangeal epiphyses
Osteochondritis of phalangeal epiphyses
Osteochondrosis of phalangeal epiphyses
Thiemann disease is a very rare genetic necrotic bone disorder characterized clinically by painless swelling of the proximal interphalangeal joints associated with osteonecrosis of epiphyses followed by osteoarthritic changes, with onset before 25 years of age and often a benign course.
Thiemann disease, familial form
Potter sequence-cleft lip/palate-cardiopathy syndrome
Thomas syndrome is characterised by renal anomalies, cardiac malformations and cleft lip or palate. It has been described in six patients. Transmission was suggested to be autosomal recessive.
Thomas syndrome
HOIL1
Heme-oxidized IRP2 ubiquitin ligase 1
RBCK2
RNF54
UBCE7IP3
XAP4
ZRANB4
RANBP2-type and C3HC4-type zinc finger containing 1
dolichyl-phosphate mannosyltransferase subunit 2, regulatory
jdf2
HECT and RLD domain containing E3 ubiquitin protein ligase 2
HTRA3
nCL-3
calpain 5
KIAA1175
phosphofurin acidic cluster sorting protein 1
Barnes syndrome
Thoracolaryngopelvic dysplasia is a short-rib dysplasia characterized by thoracic dystrophy, laryngeal stenosis and a small pelvis.
Thoracolaryngopelvic dysplasia
NIF-1
NRC-interacting factor 1
zinc finger protein 335
ARGP1
DGAT
diacylglycerol O-acyltransferase 1
ubiquitin protein ligase E3B
JM5
WIPI4
neurodegeneration with brain iron accumulation 5
WD repeat domain 45
G protein subunit alpha L
ETO2
MTG16
MTGR2
Myeloid translocation gene 8 and 16b
RUNX1T3
ZMYND4
CBFA2/RUNX1 translocation partner 3
Essential thrombocytosis
450 x 109/L) with a tendency for thrombosis and hemorrhage.
Essential thrombocythemia
DRP1
DVLP
DYMPLE
HDYNIV
VPS1
dynamin 1 like
ERV1
ERV1 homolog (S. cerevisiae)
FAD-linked sulfhydryl oxidase ALR
HERV1
HPO1
HPO2
growth factor, augmenter of liver regeneration
C10
GRCC10
gene rich cluster C10 gene
chromosome 12 open reading frame 57
CAMT
Congenital amegakaryocytic thrombocytopenic purpura
Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare inherited bone marrow failure syndrome characterized by an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood.
Congenital amegakaryocytic thrombocytopenia
heterogeneous nuclear ribonucleoprotein A2/B1
ALS20
hnRNP-A1
hnRNPA1
heterogeneous nuclear ribonucleoprotein A1
Wnt family member 1
CWH43-N
Cell wall biogenesis 43 N-terminal homolog (S. cerevisiae)
FGF receptor activating protein 1
FRAG1
post-GPI attachment to proteins 2
AER61
AER61 glycosyltransferase
EGF domain specific O-linked N-acetylglucosamine transferase
ATP-dependent protease ClpAP (E. coli), proteolytic subunit, human
caseinolytic mitochondrial matrix peptidase proteolytic subunit
KIAA0028
LEURS
Leucine tRNA ligase 2, mitochondrial
mtLeuRS
leucyl-tRNA synthetase 2, mitochondrial
potassium channel tetramerization domain containing 1
Congenital pernicious anemia
Gastric intrinsic factor deficiency
Hereditary juvenile megaloblastic anemia due to intrinsic factor deficiency
IFD
Intrinsic factor deficiency
Congenital intrinsic factor deficiency (IFD) is a rare disorder of vitamin B12 (cobalamin) absorption that is characterized by megaloblastic anemia and neurological abnormalities.
Congenital intrinsic factor deficiency
TAR syndrome
Thrombocytopenia-absent radius (TAR) syndrome is a very rare congenital malformation syndrome characterized by bilateral radial aplasia and thrombocytopenia.
Thrombocytopenia-absent radius syndrome
T-box 6
B3GN-T1
BETA3GNTI
N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase
iGAT
iGNT
iGnT
beta-1,4-glucuronyltransferase 1
HsT748
HsT771
piezo type mechanosensitive ion channel component 2
protein kinase C delta
Primary hypersomnia
Idiopathic hypersomnia is a sleep disorder classified in two forms: idiopathic hypersomnia with long sleep time and idiopathic hypersomnia without long sleep time.
Idiopathic hypersomnia
PE-2
PE2
ETS2 repressor factor
BAF57
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
mannan binding lectin serine peptidase 2
FCNH
HAKA1
Hakata antigen
ficolin 3
Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome
Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita (see this term) characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia.
Hoyeraal-Hreidarsson syndrome
Waldenström macroglobulinemia (WM) is an indolent B-cell lymphoproliferative disorder characterized by the accumulation of monoclonal cells in the bone marrow and peripheral lymphoid tissues, and associated with the production of serum immunoglobulin M (IgM) monoclonal protein.
Waldenström macroglobulinemia
Braddock-Carey syndrome
Thrombocytopenia-Robin sequence syndrome
Familial thrombomodulin anomalies is a rare, life-threatening, genetic coagulation disorder characterized by an increased risk of blood clot formation in several members of a family due to a thrombomodulin gene mutation. Patients may manifest with venous thromboembolic disease, premature myocardial infarction and/or arterial thrombosis.
Familial thrombomodulin anomalies
APO3L
DR3LG
TWEAK
TNF superfamily member 12
TAG-1
TAX1
contactin 2
HAT
HIT
Heparin-associated thrombocytopenia
Heparin-induced thrombocytopenia type 2
Heparin-induced thrombocytopenia (HIT) is a drug-induced, immune-mediated prothrombotic disorder associated with thrombocytopenia and venous and/or arterial thrombosis.
Heparin-induced thrombocytopenia
This syndrome is characterised by intrauterine growth retardation, renal dysgenesis and a unilobed or absent thymus.
Thymic-renal-anal-lung dysplasia
Cutler-Bass-Romshe syndrome
Thyrocerebrorenal syndrome is characterized by renal, neurologic, thyroid disease, associated with thrombocytopenia. It has been described in a brother and his sister. Intelligence was normal. It is transmitted as an autosomal recessive trait.
Thyrocerebrorenal syndrome
Kaposi sarcoma (KS) is a rare human herpes virus 8 (HHV-8)-induced endothelial inflammatory neoplasm that develops is various clinically distinct settings, manifesting mostly as cutaneous lesions, or mucosal or visceral involvement.
Kaposi sarcoma
Holmes-Collins syndrome
Tibia absent - polydactyly - arachnoid cyst syndrome is a very rare constellation of multiple anomalies, including absence or hypoplasia of the tibia.
Absent tibia-polydactyly-arachnoid cyst syndrome
Aplasia of tibia with split-hand/split-foot deformity
SHFLD syndrome
SHFM associated with aplasia of long bones
Split hand/foot malformation with long bone deficiency
Split-hand/foot malformation associated with aplasia of long bones
TH-SHFM
Tibial hemimelia with split hand/foot malformation
Tibial hemimelia-ectrodactyly syndrome
Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia.
Tibial aplasia-ectrodactyly syndrome
KIAA0083
DNA replication helicase/nuclease 2
Acid ceramidase deficiency
Farber lipogranulomatosis
Farber disease is a rare sphingolipid disorder characterized by a spectrum of clinical signs ranging from the classical triad of painful and progressively deformed joints, subcutaneous nodules, and progressive hoarseness (due to laryngeal involvement) that presents in infancy, to varying phenotypes with respiratory and neurologic involvement.
Farber disease
LAMA3
laminin subunit alpha 4
BIMP3
CARMA1
bcl10-interacting maguk protein 3
card-maguk protein 1
caspase recruitment domain family member 11
OBSOLETE: Bowed tibiae-radial anomalies-osteopenia-fractures syndrome
crystallin gamma B
Jessner-Kanof lymphocytic infiltration of the skin
Jessner lymphocytic infiltration of the skin (JLIS) is a chronic benign cutaneous disease characterized by asymptomatic non-scaly erythematous papules or plaques on the face and neck.
Jessner lymphocytic infiltration of the skin
Werner mesomelic syndrome
Hypoplastic tibia-polydactyly syndrome is a very rare congenital malformation syndrome characterized by bilateral hypoplasia of the tibia with polydactyly of the feet and hands.
Hypoplastic tibiae-postaxial polydactyly syndrome
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_2909 with label: Rothmund-Thomson syndrome
Connective tissue dysplasia, Spellacy type
AK2 deficiency
Congenital aleukocytosis
De Vaal disease
Generalized hematopoietic hypoplasia
SCID with leukopenia
Severe combined immunodeficiency with leukopenia
Reticular dysgenesis is the most severe form of severe combined immunodeficiency (SCID; see this term) and is characterized by bilateral sensorineural deafness and a lack of innate and adaptive immune functions leading to fatal septicemia within days after birth if not treated.
Reticular dysgenesis
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_314632 with label: ATP13A2-related juvenile neuronal ceroid lipofuscinosis
Trichothiodystrophy or TTD is a heterogeneous group disorders characterized by short, brittle hair with low-sulphur content (due to an abnormal synthesis of the sulphur containing keratins).
Trichothiodystrophy
Primary Fanconi renotubular syndrome
Primary Fanconi syndrome
Corpus callosum agenesis-blepharophimosis-Robin sequence syndrome
Toriello Carey syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia.
Toriello-Carey syndrome
Aplasia cutis congenita-epibulbar dermoids syndrome
Oculoectodermal syndrome
Oculo-ectodermal syndrome (OES) is characterized by the association of epibulbar dermoids and aplasia cutis congenital.
Toriello-Lacassie-Droste syndrome
Familial atrial fibrillation is a rare, genetically heterogenous cardiac disease characterized by erratic activation of the atria with an irregular ventricular response, in various members of a single family. It may be asymptomatic or associated with palpitations, dyspnea and light-headedness. Concomitant rhythm disorders and cardiomyopathies are frequently reported.
Familial atrial fibrillation
Childhood-onset HCC
Childhood-onset hepatocellular carcinoma
Pediatric HCC
Pediatric hepatocellular carcinoma (pediatric HCC) is a rare, aggressive, malignant hepatic tumor that develops mainly in children over 10 years of age.
Pediatric hepatocellular carcinoma
Bullous lichen planus is a variant of rare lichen planus (see this term) characterized by the development of vesico-bullous lesions.
Bullous lichen planus
Torticollis-keloids-cryptorchidism-renal dysplasia syndrome is an extremely rare developmental defect during embryogenesis malformation syndrome characterized by congenital muscular torticollis associated with skin anomalies (such as multiple keloids, pigmented nevi, epithelioma), urogenital malformations (including cryptorchidism and hypospadias) and renal dysplasia (e.g. chronic pyelonephritis, renal atrophy). Additional reported features include varicose veins, intellectual disability and musculoskeletal anomalies.
Torticollis-keloids-cryptorchidism-renal dysplasia syndrome
ATS
Arterial tortuosity syndrome (ATS) is a rare connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries.
Arterial tortuosity syndrome
, the common round worm of dogs and cats respectively. The infestation can be asymptomatic or can present as visceral larva migrans caused by larval migration through major organs such as liver, lungs or central nervous system (manifesting with fever, cough, hepatomegaly, pneumonia or rarely encephalitis), or as ocular larva migrans caused by larval migration to the eye (manifesting as ocular inflammation and retinal scaring).
Toxocariasis
Anterior bowing of legs with dwarfism
WNS
Weismann-Netter-Stuhl syndrome
Weismann-Netter syndrome is a rare, genetic, primary, bent bone dysplasia characterized by anterior diaphyseal bowing of the tibia and fibula, broadening of the fibula, posterior cortical thickening of both bones and short stature. Additional skeletal abnormalities include scoliosis with marked lumbar lordosis, horizontal sacrum and square iliac wings and/or, less frequently, vertebral malformations, abnormal shape of the clavicles and ribs, calvarial hyperostosis and delayed eruption of permanent teeth. Delayed ambulation is also frequently associated.
Weismann-Netter syndrome
Elejalde disease
Elejalde syndrome (ES) is characterized by silvery to leaden hair, bronze skin colour in sun-exposed areas and severe neurological impairment.
Neuroectodermal melanolysosomal disease
Tracheal agenesis (TA) is a rare congenital malformation in which the trachea may be completely absent (agenesis), or partially in place but underdeveloped (atresia). In both cases, proximal-distal communication between the larynx and the alveoli of the lungs is lacking.
Tracheal agenesis
Congenital tracheobronchomegaly
Idiopathic tracheobronchomegaly
Tracheobronchomegaly
Mounier-Kühn syndrome, also known as idiopathic tracheobronchomegaly, is a congenital disorder characterized by marked dilatation of the trachea and proximal bronchi that leads to impaired airway secretion clearance and recurrent lower respiratory tract infections.
Mounier-Kühn syndrome
that presents usually, but not always, with a rash (non blanching petechial or purpuric rash), progressively developing signs of meningitis (fever, vomiting, headache, photophobia, and neck stiffness) and later leading to confusion, delirium and drowsiness. Neck stiffness and photophobia are often absent in infants and young children who may manifest nonspecific signs such as irritability, inconsolable crying, poor feeding, and a bulging fontanel. Meningococcal meningitis may also present as part of early or late onset sepsis in neonates. The disease is potentially fatal. Surviving patients may develop neurological sequelae that include sensorineural hearing loss, seizures, spasticity, attention deficits and intellectual disability.
Meningococcal meningitis
Tracheopathia osteoplastica
Tracheobronchopathia osteochondroplastica (TO) is an idiopathic and benign disease of the large airways characterized by submucosal osteocartilaginous nodules presenting in the trachea with or without the involvement of the major bronchi.
Tracheobronchopathia osteochondroplastica
Congenital deficiencies of fibrinogen are coagulation disorders characterized by bleeding symptoms ranging from mild to severe resulting from reduced quantity and/or quality of circulating fibrinogen. Afibrinogenemia (complete absence of fibrinogen) and hypofibrinogenemia (reduced plasma fibrinogen concentration) (see these terms) correspond to quantitative anomalies of fibrinogen while dysfibrinogenemia (see this term) corresponds to a functional anomaly of fibrinogen. Hypo- and dysfibrinogenemia may be frequently combined (hypodysfibrinogenemia).
Congenital fibrinogen deficiency
Neuhauser-Daly-Magnelli syndrome
Tremor-nystagmus-duodenal ulcer syndrome is a rare hyperkinetic movement disorder characterized by mild to severe, progressive essential tremor, nystagmus (principally horizontal), duodenal ulceration and a narcolepsy-like sleep disturbance. Refractive errors and cerebellar signs, such as gait ataxia and adiadochokinesia, may be associated. There have been no further descriptions in the literature since 1976.
Tremor-nystagmus-duodenal ulcer syndrome
Kersey syndrome
Trichodental syndrome is characterised by the association of fine, dry and short hair with dental anomalies. It has been described in less than 10 families. The mode of transmission is autosomal dominant.
Trichodental syndrome
TDO syndrome
Tricho-dento-osseous dysplasia (TDO) belongs to the ectodermal dysplasias and is characterised by curly/kinky hair at birth, enamel hypoplasia with discolouration and molar taurodontism, increased overall bone mineral density (BMD) and increased thickness of the cortical bones of the skull.
Tricho-dento-osseous syndrome
Pinheiro-Freire Maia-Miranda syndrome
Trichodermodysplasia-dental alterations syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse, thin, brittle scalp hair, as well as sparse eyebrows, eyelashes, axillary and pubic hair, delayed eruption of deciduous teeth and hypodontia of both dentitions. Mild palmoplantar keratosis, café-au-lait spots on back, mild dystrophy of nails, and tibial deflection of toes are also associated. There have been no further descriptions in the literature since 1986.
Trichodermodysplasia-dental alterations syndrome
use http://www.orpha.net/ORDO/Orphanet_3200 with label: Arthrogryposis-ectodermal dysplasia-other anomalies syndrome
OBSOLETE: Tricho-oculo-dermo-vertebral syndrome
Kleine-Levin syndrome (KLS) is a rare neurological disorder of unknown origin characterised by relapsing-remitting episodes of hypersomnia in association with cognitive and behavioural disturbances.
Kleine-Levin syndrome
Trichoodontoonychial dysplasia with bone deficiency in frontoparietal region
Trichoodontoonychial dysplasia is a rare ectodermal dysplasia syndrome characterized by severe generalized hypotrichosis, parietal alopecia, secondary anodontia resulting from enamel hypoplasia, onychodystrophy, bone deficiency in the frontoparietal region and skin manifestations (incl. nevus pigmentosus, papules, ephelides, palmoplantar keratosis, supernumerary nipples, abnormal dermatoglyphics). There have been no further descriptions in the literature since 1983.
Trichoodontoonychial dysplasia
use http://www.orpha.net/ORDO/Orphanet_79373 with label: Ectodermal dysplasia syndrome
OBSOLETE: Autosomal dominant trichoodontoonychodysplasia-syndactyly
Oxoprolinuria due to oxoprolinase deficiency
5-Oxoprolinase deficiency is clinically a very heterogeneous condition characterized by 5-oxoprolinuria.
5-oxoprolinase deficiency
Glutathionuria
Gamma-glutamyl transpeptidase deficiency is characterized by increased glutathione concentration in the plasma and urine.
Gamma-glutamyl transpeptidase deficiency
Gamma-glutamylcysteine synthetase deficiency
Gamma-glutamylcysteine synthetase deficiency is principally characterized by hemolytic anemia, (usually rather mild), however, the presence of neurological symptoms has also been reported.
Glutamate-cysteine ligase deficiency
Idiopathic lobular panniculitis
Idiopathic nodular panniculitis
Pfeiffer-Weber-Christian syndrome
Relapsing febrile nodular nonsuppurative panniculitis
Relapsing febrile nodular panniculitis
WCD
Weber-Christian disease
Weber-Christian panniculitis
Nodular non-suppurative panniculitis, known as Weber-Christian disease (WCD), is a rare skin disorder characterized by recurring inflammation in the subcutaneous layer of fat.
Nodular non-suppurative panniculitis
OBSOLETE: Trichodermal syndrome-intellectual disability syndrome
Trichodysplasia-xeroderma syndrome is an extremely rare, syndromic hair shaft anomaly characterized by sparse, coarse, brittle, excessively dry and slow-growing scalp hair, sparse axillary and pubic hair, sparse or absent eyelashes and eyebrows and dry skin. Hair shaft analysis shows pili torti, longitudinal splitting, grooves, peeling and scaling. There have been no further descriptions in the literature since 1987.
Trichodysplasia-xeroderma syndrome
use http://www.orpha.net/ORDO/Orphanet_411788 with label: Familial isolated trichomegaly
OBSOLETE: Trichomegaly-cataract-hereditary spherocytosis syndrome
Long eyelashes-intellectual disability syndrome
Oliver-McFarlane syndrome
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome, also known as Oliver-McFarlane syndrome, is an extremely rare genetic disorder characterized by hair abnormalities, severe chorioretinal atrophy, hypopituitarism, short stature, and intellectual disability.
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
Hunter-Rudd-Hoffmann syndrome
Trigonocephaly-broad thumbs syndrome is characterized by neonatal trigonocephaly and multiple anomalies including craniosynostosis, shallow orbits, unusual nose, deviation of the terminal phalanges of fingers 1, 2, and 5, and broad toes with duplication of the terminal phalanx. It has been described in a mother and her son. It is transmitted as an autosomal dominant trait.
Trigonocephaly-broad thumbs syndrome
Non-syndromic metopic craniosynostosis
Isolated trigonocephaly is a nonsyndromic form of craniosynostosis characterized by the premature fusion of the metopic suture.
Isolated trigonocephaly
Trigonocephaly-bifid nose-acral anomalies syndrome is characterized by trigonocephaly, brachycephaly, bulbous nose (bifid at the tip), micrognathia, macrostomia, hypotonia and relatively broad metatarsals and phalanges. There has been no further descriptions in the literature since 1991.
Trigonocephaly-bifid nose-acral anomalies syndrome
Say-Meyer syndrome
Trigonocephaly-short stature-developmental delay syndrome is characterised by short stature, trigonocephaly and developmental delay. It has been described in three males. Moderate intellectual deficit was reported in one of the males and the other two patients displayed psychomotor retardation. X-linked transmission has been suggested but autosomal recessive inheritance can not be ruled out.
Trigonocephaly-short stature-developmental delay syndrome
FOP
Myositis ossificans progressiva
Stone man syndrome
Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites.
Fibrodysplasia ossificans progressiva
Triopia
47,XXX syndrome
Triple X syndrome
Triplo-X syndrome
XXX syndrome
Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX).
Trisomy X
Triploidy is a rare chromosomal anomaly, polyploidy, characterized by early in utero growth restriction, and multiple birth defects, including neural tube defects, facial abnormalities, cleft lip/palate, congenital heart anomalies, genital malformations, and peripheral skeletal abnormalities. It is usually prenatally lethal.
Triploidy
Distal arthrogryposis type 7
Dutch-Kentucky syndrome
Hecht syndrome
Hecht-Beals syndrome
Trismus-pseudocamptodactyly syndrome
Patau syndrome
Trisomy 13 is a chromosomal anomaly caused by the presence of an extra chromosome 13 and is characterized by brain malformations (holoprosencephaly), facial dysmorphism, ocular anomalies, postaxial polydactyly, visceral malformations (cardiopathy) and severe psychomotor retardation.
Trisomy 13
Distal duplication 17q
Telomeric duplication 17q
Trisomy 17qter
Distal trisomy 17q is a rare chromosomal anomaly syndrome with variable phenotype principally characterized by intellectual disability, developmental delay, short stature, craniofacial dysmorphism (incl. microcephaly, low posterior hairline, frontal bossing, bitemporal narrowing, low-set and malformed ears, flat nasal bridge, long philtrum, wide mouth with downturned corners, thin upper lip) and a short, webbed neck, as well as skeletal anomalies (e.g. brachyrhizomelia, poly-/syndactyly) and joint hyperlaxity. Cardiac, cerebral, and urogenital anomalies are also frequently associated.
Distal trisomy 17q
Familial multiple fibrofolliculoma is a genodermatosis characterised by the presence of multiple hamartomas of the hair follicle. It has been described in one family so far.
Familial multiple fibrofolliculoma
Chromosome 18 duplication
Edwards syndrome
Trisomy 18 is a chromosomal abnormality associated with the presence of an extra chromosome 18 and characterized by growth delay, dolichocephaly, a characteristic facies, limb anomalies and visceral malformations.
Trisomy 18
Humerus trochlea aplasia is an extremely rare familial bone deformity described only in Japanese patients to date. The deformity is bilateral in nearly half of patients (with bilateral involvement, the condition is symmetrical) and sometimes causes ulnar nerve palsy or cubitus varus.
Humerus trochlea aplasia
Common aorticopulmonary trunk
Common arterial trunk
TAC
truncal valve). Pulmonary arteries originate from the common arterial trunk distal to the coronary arteries and proximal to the first brachiocephalic branch of the aortic arch. TA typically overrides a large outlet ventricular septal defect (VSD). The intracardiac anatomy usually displays situs solitus and atrioventricular (AV) concordance.
Truncus arteriosus
Sleeping sickness
sub-species). HAT comprises an initial hemo-lymphatic stage characterized by fever, weakness, musculoskeletal pain, anemia, and lymphadenopathy, along with dermatologic, cardiac and endocrine complications or hepatosplenomegaly, followed by a meningo-encephalitic stage characterized by neurologic involvement (sleep disturbances, psychiatric disorders, seizures) that progresses, in the absence of treatment, towards a fatal meningoencephalitis.
African trypanosomiasis
Chagas disease
. The disease is characterized by an acute phase which is either asymptomatic or manifest with fever, inflammation at the inoculation site (inoculation chancre or chagoma), unilateral palpebral edema called the Romaña sign (when the triatomine bite occurs near the eye), enlarged lymph nodes, and splenomegaly. The chronic phase is lifelong and development of chagasic cardiomyopathy (30%; complex arrhythmias, heart failure, and thromboembolic events), digestive (10%; megaoesophagus and megacolon), neurological (10%; stroke, peripheral neuropathy and autonomic dysfunction), or mixed alterations (10%) may be observed. These can all lead to high morbidity and mortality rates.
American trypanosomiasis
Hairy throat syndrome
Tsukahara-Kajii syndrome
Anterior cervical hypertrichosis is a rare form of localised hypertrichosis characterised by hair growth near the laryngeal prominence during childhood.
Isolated anterior cervical hypertrichosis
Neural tube defect
that in most individuals is usually asymptomatic but that in at risk individuals (e.g. with diabetes or with HIV infection) can cause weakness, fever, weight loss, night sweat, and respiratory anomalies such as chronic cough, chest pain, hemoptysis or respiratory insufficiency.
Tuberculosis
Proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome is characterised by onset of proximal tubulopathy in the first year of life, followed by progressive development during childhood of skin anomalies (erythrocyanosis and abnormal pigmentation), blindness, osteoporosis, cerebellar ataxia, mitochondrial myopathy, deafness and diabetes mellitus.
Proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_2036 with label: Scalp-ear-nipple syndrome
Odonto-onycho-hypohidrotic dysplasia-midline scalp defects syndrome
Tularemia
Malignant mesenchymal tumor
Malignant soft tissue tumor
Soft part sarcoma
Soft tissue sarcoma
TEN
Thymic epithelial tumor
Thymic epithelial neoplasms (TEN) are rare malignancies arising from the epithelium of the thymic gland. They comprise three sub-types: thymoma, thymic carcinoma, and thymic neuroendocrine carcinoma (see these terms).
Thymic epithelial neoplasm
Germ cell tumor
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_79189 with label: Peroxisome biogenesis disorder
Hantavirosis
Hantavirus fever
Hemorrhagic fever with renal syndrome (HFRS) is a rodent-borne potentially severe hemorrhagic disease caused by Old World Hantaviruses characterized by high fever, malaise, headache, myalgia, arthralgia, backache, abdominal pain, oliguria/renal failure and systemic hemorrhagic manifestations.
Hemorrhagic fever-renal syndrome
Aorto-ventricular tunnel is a congenital, extracardiac channel which connects the ascending aorta above the sinotubular junction to the cavity of the left, or (less commonly) right ventricle.
Aorto-ventricular tunnel
Transient tyrosinemia of the neonate
Transient tyrosinemia of the newborn is a benign disorder of tyrosine metabolism detected upon newborn screening and often observed in premature infants. It shows no clinical symptoms. It is characterized by tyrosinemia, moderate hyperphenylalaninemia, and tyrosiluria that usually resolve after 2 months of age.
Transient tyrosinemia of the newborn
Uhl anomaly is characterized by an almost complete absence of the myocardium in the right ventricle resulting in a thin walled nonfunctional right ventricle manifesting with cardiac arrhythmias and right ventricular failure. Cases of partial absence of right ventricular myocardium which remains asymptomatic or mildly symptomatic until adulthood have also been reported. Patients presenting with complete Uhl anomaly should be considered for cardiac transplantation.
Uhl anomaly
Renal dysplasia-limb defects syndrome
Renal dysplasia-mesomelia-radiohumeral fusion syndrome
Ulbright-Hodes syndrome is characterised by renal dysplasia, growth retardation, phocomelia or mesomelia, radiohumeral fusion, rib abnormalities, anomalies of the external genitalia and a potter-like facies. The syndrome has been described in three infants (one pair of sibs and an unrelated case), all of whom died shortly after birth from respiratory distress resulting from pulmonary hypoplasia and oligohydramnios caused by renal dysplasia. The mode of transmission appears to be autosomal recessive.
Ulbright-Hodes syndrome
Umbilical cord ulceration-intestinal atresia syndrome is characterised by congenital intestinal atresia, umbilical cord ulceration and severe intrauterine haemorrhage.
Umbilical cord ulceration-intestinal atresia syndrome
Ulerythema ophryogenesis is characterised by inflammatory keratotic papules occurring on the face, which may be followed by scars, atrophy and alopecia. Prevalence is unknown but the disease, affecting mainly children and young adults, is rare. Erythema with mild hyperkeratosis of the hair follicles resulting in rough papules is observed on the cheeks and lateral aspects of the eyebrows. The disorder occasionally extends to the adjacent scalp, ears and forehead and rarely to the extensor surfaces of the limbs. Symptoms regress with age, although loss of the lateral aspects of the eyebrows can occur. Many cases occur sporadically; autosomal dominant inheritance has also been reported. There is no particular treatment, but patients should avoid sun exposure without UV protection.
Ulerythema ophryogenesis
Hip dysplasia-enchondromata-ecchondroma syndrome
Upington disease is characterised by Perthes-like pelvic anomalies (premature closure of the capital femoral epiphyses and widened femoral necks with flattened femoral heads), enchondromata and ecchondromata. It has been described in siblings from three generations of one family. Transmission is autosomal dominant.
Upington disease
Intellectual disability-short stature-hand contractures-genital anomalies syndrome
Prader-Willi habitus-osteopenia-camptodactyly syndrome
This syndrome is characterized by intellectual deficit, short stature, obesity, genital abnormalities, and hand and/or toe contractures. It has been described in two brothers and in one isolated case. The patients also present with generalized osteoporosis and a history of frequent fractures. This syndrome is similar to Prader-Willi syndrome, but the hand contractures and osteoporosis, together with the lack of hypotonia, indicate this is a different entity.
Urban-Rogers-Meyer syndrome
Viral hemorrhagic fever is a group of recently discovered contagious viral infections characterized by severe, multiple, and often fatal hemorrhages. African fevers include Lassa fever discovered in 1969, Marburg's disease that first occurred in 1967, and Ebola fever that appeared in 1976. Other viruses may also cause hemorrhagic fevers (for example, arbovirus fever).
Viral hemorrhagic fever
Double uterus and obstructed hemivagina syndrome
Herlyn-Werner syndrome
OHVIRA syndrome
Obstructed hemivagina and ipsilateral renal anomaly
Wunderlich syndrome
Double uterus, hemivagina and renal agenesis is a rare congenital urogenital anomaly characterized by the presence of double uterus (didelphys, bicornuate or septum-complete or partial), unilateral cervico-vaginal obstruction (obstructed hemivagina-communicant, not communicant or septate and unilateral cervical atresia) and ipsilateral renal anomalies (renal agenesis (see this term) and/or other urinary tract anomalies). Patients are usually diagnosed at puberty after menarche due to recurrent severe dysmenorrhea, chronic pelvic pain, excessive foul smelling mucopurulent discharge, spotting and intermenstrual bleeding (depending on the existence of uterine or vaginal communications). Fever, dyspareunia, and a palpable abdominal, pelvic or vaginal mass (mucocolpos or pyocolpos) may also be present.
Double uterus-hemivagina-renal agenesis syndrome
Sujansky-Leonard syndrome
VACTERL is an acronym for Vertebral anomalies, Anal atresia, Congenital cardiac disease, Tracheoesophageal fistula, Renal anomalies, and Limb defects. VACTERL associated with hydrocephalus has rarely been reported and is thought to be an autosomal recessive anomaly. The condition is described as a uniformly lethal or developmentally devastating disorder distinct from the VATER association.
VACTERL with hydrocephalus
ADTKD
Autosomal dominant medullary cystic kidney disease
Autosomal dominant medullary cystic kidney disease (ADMCKD) is a chronic tubulointerstitial nephropathy, which belongs, together with nephronophthisis (NPH), to a heterogeneous group of inherited tubulo-interstitial nephritis, termed NPH-MCKD complex.
Autosomal dominant tubulointerstitial kidney disease
Hyperphosphatasemia tarda
Van Buchem disease
Hyperostosis corticalis generalisata, also known as van Buchem disease, is a rare craniotubular hyperostosis characterized by hyperostosis of the skull, mandible, clavicles, ribs and diaphyses of the long bones, as well as the tubular bones of the hands and feet. Clinical manifestations include increased skull thickness with cranial nerve entrapment causing inconsistent cranial nerve palsies.
Hyperostosis corticalis generalisata
Van den Bosch syndrome is characterized by intellectual deficit, choroideremia, acrokeratosis verruciformis, anhidrosis, and skeletal deformities. It has been observed in a single kindred. The syndrome is transmitted as an X-linked recessive trait and may be caused by a small X-chromosome deletion.
Van den Bosch syndrome
Benign paroxysmal peritonitis
Benign recurrent polyserositis
Familial paroxysmal polyserositis
Periodic disease
Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent short episodes of fever and serositis resulting in pain in the abdomen, chest, joints and muscles.
Familial Mediterranean fever
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_247691 with label: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
KWWH type I
Keratoderma with woolly hair type I
Keratosis palmoplantaris with arrythmogenic cardiomyopathy
Palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy
Palmoplantar keratoderma with arrythmogenic cardiomyopathy
Naxos disease is a recessively inherited condition with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) and a cutaneous phenotype, characterised by peculiar woolly hair and palmoplantar keratoderma.
Naxos disease
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_261483 with label: Xq27.3q28 duplication syndrome
Velo-facial-skeletal syndrome is a very rare multiple congenital anomalies syndrome characterized by short stature, facial dysmorphism (elongated face, hypertelorism, broad and high nasal bridge, mild epicanthus, posteriorly angulated ears, narrow and high-arched palate), skeletal anomalies (mesomelic brachymelia, short broad hands, prominent finger pads, short stubby thumbs, hyperextensibility of small joints, small feet), hypernasality and normal intelligence. Delayed bone age has also been reported.
Velo-facial-skeletal syndrome
DORV
Double outlet right ventricle (DORV) is a rare cono-truncal anomaly in which both the aorta and pulmonary artery originate, either entirely or predominantly, from the morphologic right ventricle.
Double outlet right ventricle
DOLV
Double-outlet left ventricle (DOLV) is an extremely rare congenital cardiac malformation in which both the aorta and the pulmonary artery arise, either exclusively or predominantly, from the morphologic left ventricle.
Double outlet left ventricle
Cleft lip-limb and heart malformations syndrome
Verloove Vanhorick-Brubakk syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by multiple skeletal malformations (short femora and humeri, bilateral absence of metatarsal and metacarpal bone in hands and feet, bilateral partial syndactyly of fingers and toes or oligopolysyndactyly, deformed lumbosacral spine), congenital heart disease (truncus arteriosus), lung and urogenital malformations (bilateral bilobar lungs, horseshoe kidney, cryptorchidism), and facial malformations (bilateral cleft lip and palate, micrognathia, small, low-set ears without external meatus). It is lethal in the neonatal period. There have been no further descriptions in the literature since 1981.
Verloove Vanhorick-Brubakk syndrome
HIDS
Hyper-IgD syndrome
Hyperimmunoglobinemia D with recurrent fever
Hyperimmunoglobulinemia D syndrome
Partial mevalonate kinase deficiency
Hyperimmunoglobinemia D with periodic fever (HIDS) is a rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs).
Hyperimmunoglobulinemia D with periodic fever
Viljoen-Kallis-Voges syndrome
Microcephaly-brachydactyly-kyphoscoliosis syndrome is characterized by profound intellectual deficit in association with microcephaly, short stature, brachydactyly type D, a flattened occiput, downslanting palpebral fissures, low-set large ears, a broad prominent nose and kyphoscoliosis. It has been described in three sisters. The disorder is likely to be transmitted as an autosomal recessive trait.
Microcephaly-brachydactyly-kyphoscoliosis syndrome
MCOPS8
Microcephaly-microphthalmia-ectrodactyly of lower limbs-prognathism syndrome
Syndromic microphthalmia type 8
Viljoen-Smart syndrome
; 6q21) has been shown to play a causative role in MMEP, although this was not confirmed in recent studies.
MMEP syndrome
Uveomenigitic syndrome
Vogt-Koyanagi-Harada disease is a bilateral, chronic, diffuse granulomatous panuveitis typically characterized by serous retinal detachment and frequently associated with neurological (meningitis), auditory, and dermatological alterations.
Vogt-Koyanagi-Harada disease
Biliary tract malformation-renal failure syndrome
DK phocomelia syndrome
Phocomelia-thrombocytopenia-encephalocele-urogenital malformations syndrome
Von Voss-Cherstvoy syndrome is a very rare disorder with phocomelia of upper limbs, encephalocele, variable brain anomalies, urogenital abnormalities, and thrombocytopenia.
Von Voss-Cherstvoy syndrome
Arbovirosis are polymorphic diseases caused by arboviruses and are classically characterized by encephalitis and hemorrhage, however, most commonly only aspecific fever is observed.
Arbovirus fever
Waardenburg syndrome (WS) is a disorder characterized by varying degrees of deafness and minor defects in structures arising from neural crest, including pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes.
Waardenburg syndrome
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_3447 with label: Weaver syndrome
Camptodactyly-overgrowth-unusual facies syndrome
Weaver syndrome (WVS) is a rare, multisystem disorder characterized by tall stature, a typical facial appearance (hypertelorism, retrognathia) and variable intellectual disability. Additional features may include camptodactyly, soft doughy skin, umbilical hernia, and a low hoarse cry.
Weaver syndrome
Weaver-Williams syndrome is a multiple congenital anomalies syndrome characterized by moderate-to-severe intellectual disability, decreased muscle mass, microcephaly, facial dysmorphism (prominent ears, midfacial hypoplasia, small mouth and cleft palate), clinodactyly of the fingers, delayed osseous maturation and generalized bone hypoplasia. The syndrome has been described in a brother and sister and an autosomal recessive mode of inheritance has been suggested. There have been no further descriptions in the literature since 1977.
Weaver-Williams syndrome
Spherophakia-brachymorphia syndrome
Weill-Marchesani syndrome (WMS) is a rare condition characterized by short stature, brachydactyly, joint stiffness, and characteristic eye abnormalities including microspherophakia, ectopia of the lens, severe myopia, and glaucoma.
Weill-Marchesani syndrome
Dissecting cellulitis of the scalp is a rare chronic suppurative dermatosis of the scalp that mainly affects black men and that is characterized by multiple painful inflammatory follicular and perifollicular nodules, pustules, and abscesses that interconnect via sinus tracts and eventually result in scarring alopecia.
Dissecting cellulitis of the scalp
Heterozygous OSMED
Heterozygous otospondylomegaepiphyseal dysplasia
Pierre Robin sequence-fetal chondrodysplasia syndrome
Pierre Robin syndrome-fetal chondrodysplasia syndrome
Weissenbacher-Zweymuller syndrome (WZS) is characterized by short stature at birth, neonatal micrognathia, cleft palate, rhizomelic chondrodysplasia with 'dumbbell' shaped arm and leg bones, hypertelorism and vertebral coronal clefts.
Weissenbacher- Zweymuller syndrome
Infantile spasms
Intellectual disability-hypsarrhythmia syndrome
West syndrome (or infantile spasms) is characterised by the association of clusters of axial spasms, psychomotor retardation and an hypsarrhythmic interictal EEG pattern. It is the most frequent type of epileptic encephalopathy. It may occur in otherwise healthy infants and in those with abnormal cognitive development.
West syndrome
LGMD2G
Limb-girdle muscular dystrophy due to telethonin deficiency
Autosomal recessive limb-girdle muscular dystrophy type 2G (LGMD2G) is a mild subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable onset (ranging from infancy to adolescence) of progressive proximal upper and lower limb muscle weakness and atrophy. Mild scapular winging, calf hypertrophy, and lack of respiratory and cardiac involvement are also observed.
Autosomal recessive limb-girdle muscular dystrophy type 2G
Limb-girdle muscular dystrophy due to FKRP deficiency
Autosomal recessive limb-girdle muscular dystrophy type 2I (LGMD2I) is a subtype of autosomal recessive limb-girdle muscular dystrophy that presents a highly variable age of onset and phenotypic spectrum typically characterized by slowly progressive proximal weakness of the pelvic and shoulder girdle musculature (predominantly affecting the lower limbs), frequently associated with waddling gait, scapular winging, calf and tongue hypertrophy, exercise-induced myalgia, and myoglobinuria and/or elevated creatine kinase serum levels. Abdominal muscle weakness, cardiomyopathy, respiratory muscle involvement and various brain abnormalities have also been reported.
Autosomal recessive limb-girdle muscular dystrophy type 2I
LGMD1D
Autosomal dominant limb-girdle muscular dystrophy type 1D (LGMD1D) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult-onset of slowly progressive, proximal pelvic girdle weakness, with none, or only minimal, shoulder girdle involvement, and absence of cardiac and respiratory symptoms. Mild to moderate elevated creatine kinase serum levels and gait abnormalities are frequently observed.
Autosomal dominant limb-girdle muscular dystrophy type 1D
LGMD1E
Autosomal dominant limb-girdle muscular dystrophy type 1E (LGMD1E) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult onset of progressive cardiac conduction defects that begin with cardiac dysrhythmia. Congestive heart failure and symptoms of progressive muscle weakness (present in a proximal distribution) tend to occur later. Affected patients may present only the cardiac features of the disease. Additional features include exertional dyspnea, calf hypertrophy, elevated creatine kinase serum levels and muscle cytoplasmic inclusions.
Autosomal dominant limb-girdle muscular dystrophy type 1E
Intestinal lipodystrophy
Intestinal lipophagic granulomatosis
Secondary non-tropical sprue
Whipple disease
Congenital muscular dystrophy with ITGA7 deficiency
Congenital muscular dystrophy with integrin alpha-7 deficiency is a rare, genetic, congenital muscular dystrophy due to extracellular matrix protein anomaly characterized by early motor development delay and muscle weakness with mild elevation of serum creatine kinase, that may be followed by progressive disease course with predominantly proximal muscle weakness and atrophy, motor development regress, scoliosis and respiratory insufficiency.
Congenital muscular dystrophy with integrin alpha-7 deficiency
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_178464 with label: Hereditary proximal myopathy with early respiratory failure
Distal myopathy with early respiratory muscle involvement
Familial primary hypomagnesemia (FPH) is a rare mineral absorption and transport disorder characterized by a selective defect in renal or intestinal magnesium (Mg) absorption, resulting in a low Mg concentration in the blood.
Familial primary hypomagnesemia
Familial primary hypomagnesemia with normocalciuria and normocalcemia (FPHNN) is a form of familial primary hypomagnesemia (FPH), characterized by low serum magnesium (Mg) values but inappropriate normal urinary Mg values (i.e. renal hypomagnesemia). The typical symptoms are weakness of the limbs, vertigo, headaches, seizures, brisk tendon reflexes and mild to moderate psychomotor delay.
Familial primary hypomagnesemia with normocalciuria and normocalcemia
HOMG2
Isolated autosomal dominant hypomagnesemia
Isolated renal magnesium wasting
Renal hypomagnesemia type 2
Autosomal dominant primary hypomagnesemia with hypocalciuria (ADPHH) is a mild form of familial primary hypomagnesemia (FPH, see this term), characterized by extreme weakness, tetany and convulsions. Secondary disturbances in calcium excretion are observed.
Autosomal dominant primary hypomagnesemia with hypocalciuria
APECED syndrome
APS type 1
Autoimmune hypoparathyroidism-chronic candidiasis-Addison disease syndrome
Autoimmune polyendocrine syndrome type 1
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome
Autoimmune polyglandular syndrome type 1
HAM syndrome
Hypoparathyroidism-Addison disease-mucocutaneous candidiasis syndrome
MEDAC syndrome
Multiple endocrine deficiency-Addison disease-candidiasis syndrome
Autoimmune polyendocrinopathy type 1, or APECED syndrome, is a genetic disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure.
Autoimmune polyendocrinopathy type 1
The term corneal dystrophy embraces a heterogeneous group of bilateral genetically determined non-inflammatory corneal diseases that are usually restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value.
Corneal dystrophy
Foot contractures-muscle atrophy-oculomotor apraxia syndrome
Wieacker-Wolff syndrome
Intellectual disability-developmental delay-contractures syndrome, formerly known as Wieacker-Wolff syndrome, is a severe X-linked recessive neurodevelopmental disorder characterized by severe contractures (arthrogryposis; see this term) and intellectual disability.
Intellectual disability-developmental delay-contractures syndrome
Neonatal progeroid syndrome
Wiedemann-Rautenstrauch syndrome is a very rare disorder with features of premature aging recognizable at birth, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and dysmorphism.
Wiedemann-Rautenstrauch syndrome
Cervicooculoacoustic syndrome
Wildervanck syndrome is characterized by the triad of cervical vertebral fusion (Klippel-Feil anomaly, see this term), bilateral abducens palsy with retracted eyes (Duane syndrome, see this term) and congenital perceptive deafness.
Wildervanck syndrome
Danon disease
GSD due to LAMP-2 deficiency
Glycogenosis due to LAMP-2 deficiency
Lysosomal glycogen storage disease with normal acid maltase activity
Glycogen storage disease due to LAMP-2 (Lysosomal-Associated Membrane Protein 2) deficiency is a lysosomal glycogen storage disease characterised by severe cardiomyopathy and variable degrees of muscle weakness, frequently associated with intellectual deficit.
Glycogen storage disease due to LAMP-2 deficiency
WTS
X-linked intellectual disability-gynecomastia-obesity syndrome
Wilson-Turner syndrome (WTS) is a very rare X-linked multisystem genetic disease characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature.
Wilson-Turner syndrome
Bare lymphocyte syndrome type 1
Immunodeficiency by defective expression of HLA class 1 is a very rare, primary, genetic, immunodeficiency disorder characterized by partial or complete absence of human leukocyte antigen class I expression resulting in a non-specific clinical picture of impaired immune response and susceptibility to infections.
Immunodeficiency by defective expression of HLA class 1
Folliculitis decalvans is a rare chronic inflammatory cicatricial alopecia of the scalp occurring in middle-aged adults and characterized by the development of alopecic patches with slowly centrifugal spread predominantly in the vertex and occipital area of the scalp, associated with perifollicular erythema, follicular pustules and hemorrhagic crusts.
Quinquaud's folliculitis decalvans
Winchester syndrome
Torg-Winchester syndrome
DIDMOAD syndrome
Diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome
Wolfram syndrome (WS) also known as DIDMOAD, is a neurodegenerative disorder characterized by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Other related problems are urinary tract atony, ataxia, peripheral neuropathy, psychiatric disorders and/or seizures. 2 types of WS may be distinguished: type 1 and type 2 (WS1 and WS2).
Wolfram syndrome
Diabetes-hypogonadism-deafness-intellectual disability syndrome
Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia.
Congenital suprabulbar paresis
Worster-Drought syndrome (WDS) is a form of cerebral palsy characterized by congenital pseudobulbar (suprabulbar) paresis manifesting as selective weakness of the lips, tongue and soft palate, dysphagia, dysphonia, drooling and jaw jerking.
Worster-Drought syndrome
WT limb-blood syndrome is characterised by haematological anomalies (Fanconi anaemia, leukaemia and lymphoma) often appearing during childhood. Anomalies of the limbs and hands are also present: bifid or hypoplastic thumbs, cutaneous syndactyly, and ulnar and radial defects. The syndrome has been described in several families. Transmission is autosomal dominant.
WT limb-blood syndrome
Classic xanthinuria
Xanthic urolithiasis
Xanthine stone disease
Hereditary xanthinuria is a purine metabolism disorder due to inherited deficiency of the xanthine dehydrogenase/oxidase enzyme and is characterized by very low (or undetectable) concentrations of uric acid in blood and urine and very high concentration of xanthine in urine, leading to urolithiasis.
Hereditary xanthinuria
Garcia-Lurie syndrome
XK syndrome
XK-aprosencephaly
XK aprosencephaly syndrome is a very rare syndromic type of cerebral malformation characterized by aprosencephaly (absence of telencephalon and diencephalon), oculo-facial anomalies (i.e. ocular hypotelorism or cyclopia, malformation/absence of nasal structures, cleft lip), preaxial limb defects (i.e. hypoplastic hands, absent halluces) and various other anomalies including ambiguous genitalia, imperforate anus, and vertebral anomalies. The syndrome is thought to have an autosomal recessive mode of inheritance.
XK aprosencephaly syndrome
Frasier syndrome is characterised by the association of male pseudohermaphrodism and glomerular nephropathy. This syndrome is associated with a high risk of developing gonadoblastoma.
Frasier syndrome
Azoospermia-sinopulmonary infections syndrome
Young syndrome is characterised by the association of obstructive azoospermia with recurrent sinobronchial infections.
Young syndrome
Cleidocranial dysplasia-micrognathia-absent thumbs syndrome
Yunis-Varon syndrome
Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome
Laband syndrome
Zimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet.
Zimmermann-Laband syndrome
Coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome
Congenital disorder of glycosylation due to PIGL deficiency
Neuroectodermal dysplasia, CHIME type
Neuroectodermal syndrome, Zunich type
PIGL-CDG
Zunich-Kaye syndrome
CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy.
CHIME syndrome
FBPase deficiency
Fructose-1,6-diphosphatase deficiency
Fructose-1,6-biphosphatase (FBP) deficiency is a disorder of fructose metabolism (see this term) characterized by recurrent episodes of fasting hypoglycemia with lactic acidosis, that may be life-threatening in neonates and infants.
Fructose-1,6-bisphosphatase deficiency
Alpha-L-fucosidase deficiency
Fucosidosis is an extremely rare lysosomal storage disorder characterized by a highly variable phenotype with common manifestations including neurologic deterioration, coarse facial features, growth retardation, and recurrent sinopulmonary infections, as well as seizures, visceromegaly, angiokeratoma and dysostosis.
Fucosidosis
Ketotic hyperglycinemia
Propionic aciduria
Propionyl-CoA carboxylase deficiency
Propionic acidemia (PA) is an organic aciduria caused by the deficient activity of the propionyl Coenzyme A carboxylase and is characterized by life threatening episodes of metabolic decompensation, neurological dysfunction and that may be complicated by cardiomyopathy.
Propionic acidemia
Idiopathic recurrent and disabling cutaneous herpes
Idiopathic disseminated CMV infection
Idiopathic disseminated cytomegalovirus infection
Fulminant viral hepatitis is a rapid and severe impairment of liver functions (acute liver failure) with hepatic encephalopathy developing less than 8 weeks after the onset of jaundice, secondary to viral hepatitis mainly due to HBV, but also to HAV.
Fulminant viral hepatitis
use http://www.orpha.net/ORDO/Orphanet_163585 with label: Rare viral disease
OBSOLETE: Lethal idiopathic viral infection
Idiopathic severe pneumococcemia
INAD
INAD1
Phospholipase A2-associated neurodegeneration
Seitelberger disease
Infantile neuroaxonal dystrophy/atypical neuroaxonal dystrophy (INAD/atypical NAD) is a type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by psychomotor delay and regression, increasing neurological involvement with symmetrical pyramidal tract signs and spastic tetraplegia. INAD may be classic or atypical and patients present with symptoms anywhere along a continuum between the two.
Infantile neuroaxonal dystrophy
T-B+ SCID due to JAK3 deficiency
Severe combined immunodeficiency (SCID) T-B+ due to JAK3 deficiency is a form of SCID (see this term) characterized by severe and recurrent infections, associated with diarrhea and failure to thrive.
T-B+ severe combined immunodeficiency due to JAK3 deficiency
Isolated dolichocephaly
Non-syndromic sagittal synostosis
Isolated scaphocephaly is a form of nonsyndromic craniosynostosis characterized by premature fusion of the sagittal suture.
Isolated scaphocephaly
Non-syndromic unicoronal synostosis
Synostotic plagiocephaly
Isolated synostotic plagiocephaly (SP) is a form of nonsyndromic craniosynostosis characterized by premature fusion of one coronal suture leading to skull deformity and facial asymmetry.
Isolated plagiocephaly
Non-syndromic bicoronal synostosis
Isolated brachycephaly is a relatively frequent nonsyndromic craniosynostosis consisting of premature fusion of both coronal sutures leading to skull deformity with a broad flat forehead and palpable coronal ridges.
Isolated brachycephaly
Goldberg syndrome
Neuraminidase deficiency with beta-galactosidase deficiency
Galactosialidosis is a lysosomal storage disease characterized by coarse facial features, macular ''cherry red spot'', and dysostosis multiplex. Clinical presentation can be heterogenous ranging from a severe, early-onset, rapidly progressive infantile form to late onset, slowly progressive juvenile/adult form.
Galactosialidosis
Desmosterolosis is a very rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, and intellectual disability, with elevated levels of desmosterol.
Desmosterolosis
P5N deficiency
UMPH1 deficiency
Uridine 5'-monophosphate hydrolase deficiency
Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency is a rare, hereditary, hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by mild to moderate hemolytic anemia associated with basophilic stippling and the accumulation of high concentrations of pyrimidine nucleotides within the erythrocyte. Patients present with variable features of jaundice, splenomegaly, hepatomegaly, gallstones, and sometimes require transfusions. Rare cases of mild development delay and learning difficulties are reported.
Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
Lysosomal acid phosphatase deficiency
CSID
Congenital sucrase-isomaltose malabsorption
Congenital sucrose intolerance
Disaccharide intolerance
Congenital sucrase-isomaltase deficiency (CSID) is a carbohydrate intolerance disorder characterised by malabsorption of oligosaccharides and disaccharides.
Congenital sucrase-isomaltase deficiency
use http://www.orpha.net/ORDO/Orphanet_71212 with label: Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
OBSOLETE: Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Epidermal hamartoma syndrome
Epidermal nevus syndrome (ENS) is a rare congenitally acquired syndrome, characterized by the presence of epidermal nevi in association with various developmental abnormalities of the skin, eyes, nervous, skeletal, cardiovascular and urogenital systems.
Epidermal nevus syndrome
CDPX2
CDPXD
Chondrodystrophia calcificans congenita
Conradi-Hünermann-Happle syndrome
X-linked chondrodysplasia punctata type 2
X-linked dominant chondrodysplasia punctata (CDPX2) is a rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature.
X-linked dominant chondrodysplasia punctata
Galactosemia is a group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disease (classic galactosemia), a rare mild form (galactokinase deficiency) causing cataract, and a very rare form with variable severity (galactose epimerase deficiency) resembling classic galactosemia in the severe form (see these terms).
Galactosemia
GRB1
p85-ALPHA
phosphoinositide-3-kinase regulatory subunit alpha
phosphoinositide-3-kinase regulatory subunit 1
KIAA0691
LENG2
NOT3 (negative regulator of transcription 3, yeast) homolog
NOT3H
CCR4-NOT transcription complex subunit 3
Genetic muscular channelopathy
Disorder of phospholipids, sphingolipids and fatty acids biosynthesis
Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement
Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement
Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement
3-methylglutaconic aciduria with deafness-encephalopathy-Leigh-like syndrome
MEGDEL syndrome is a rare, genetic, neurometabolic disorder characterized by neonatal hypoglycemia, features of sepsis that are not linked to infection, development of feeding problems, failure to thrive, transient liver dysfunction, and truncal hypotonia followed by dystonia and spasticity which results in psychomotor development arrest and/or regression. Progressive sensorineural deafness, intellectual disability and absent speech are also associated. Laboratory tests demonstrate 3-methylglutaconic aciduria and temporary elevated serum lactate and transaminases.
MEGDEL syndrome
Congenital ichthyosis-intellectual disability-spastic tetraplegia syndrome
Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome
Ataxie spinocérébelleuse à début infantile avec retard psychomoteur
Autosomal recessive spinocerebellar ataxia type 14
Infantile-onset spinocerebellar ataxia-psychomotor delay syndrome
SCAR14
SPARCA
SPARCA1
Spectrin-associated autosomal recessive cerebellar ataxia type 1
mutations, characterized by global development delay in infancy, followed by childhood-onset gait ataxia with limb dysmetria and dysdiadochokinesia, mild to severe intellectual disability, development of cerebellar atrophy, and abnormal eye movements (including a convergent squint, hypometric saccades, jerky pursuit movements and incomplete range of movement).
Spectrin-associated autosomal recessive cerebellar ataxia
Mitochondrial DNA maintenance syndrome due to MGME1 deficiency
PEO-myopathy-emaciation syndrome
mtDNA maintenance syndrome due to MGME1 deficiency
Progressive external ophthalmoplegia-myopathy-emaciation syndrome is a rare mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies characterized by progressive external ophthalmoplegia without diplopia, cerebellar atrophy, proximal skeletal muscle weakness with generalized muscle wasting, profound emaciation, respiratory failure, spinal deformity and facial muscle weakness (manifesting with ptosis, dysphonia, dysphagia and nasal speech). Intellectual disability, gastrointestinal symptoms (e.g. nausea, abdominal fullness, and loss of appetite), dilated cardiomyopathy and renal colic have also been reported.
Progressive external ophthalmoplegia-myopathy-emaciation syndrome
mtDNA maintenance syndrome
Mitochondrial DNA maintenance syndrome
Mitochondrial DNA deletion syndrome with limb-girdle weakness
mtDNA deletion syndrome with limb-girdle weakness
mtDNA deletion syndrome with progressive myopathy
Mitochondrial DNA deletion syndrome with progressive myopathy
Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency
LGMD2U
Autosomal recessive limb-girdle muscular dystrophy type 2U
use http://www.orpha.net/ORDO/Orphanet_352479 with label: Autosomal recessive limb-girdle muscular dystrophy type 2U
OBSOLETE: Autosomal recessive limb-girdle muscular dystrophy with cerebellar involvement
Digital anomalies-intellectual disability-short stature syndrome
ASD due to AUTS2 deficiency
AUTS2 syndrome
Autism spectrum disorder due to AUTS2 deficiency is a rare genetic syndromic intellectual disability characterized by global developmental delay and borderline to severe intellectual disability, autism spectrum disorder with obsessive behavior, stereotypies, hyperactivity but frequently friendly and affable personality, feeding difficulties, short stature, muscular hypotonia, microcephaly, characteristic dysmorphic features (hypertelorism, high arched eyebrows, ptosis, deep and/or broad nasal bridge, broad/prominent nasal tip, short and/or upturned philtrum, narrow mouth, and micrognathia), and skeletal anomalies (kyphosis and/or scoliosis, arthrogryposis, slender habitus and extremities). Other clinical features may include hernias, congenital heart defects, cryptorchidism and seizures.
Autism spectrum disorder due to AUTS2 deficiency
use http://www.orpha.net/ORDO/Orphanet_391411 with label: Atypical juvenile parkinsonism
OBSOLETE: Juvenile parkinsonism with intellectual disability due to DNAJC6 deficiency
OBSOLETE: Levodopa-unresponsive juvenile parkinsonism
Autosomal recessive intellectual disability due to TRAPPC9 deficiency
Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome is a rare, syndromic intellectual disability primarily characterized by moderate to severe intellectual disability, true-to-relative microcephaly and brain abnormalities including a thin corpus callosum, cerebellar hypoplasia, cerebral white matter hypoplasia and multi-focal hyperintensity of cerebral white matter on MRI. Obesity and distinctive craniofacial dysmorphism (including brachycephaly, round face, straight eyebrows, synophrys, hypertelorism, epicanthus, wide and depressed nasal bridge, protruding ears with uplifted lobe, downslanting corners of the mouth) are additional features.
Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome
Oncogenic hypophosphatemic osteomalacia
TIO
Tumor-induced osteomalacia
Oncogenic osteomalacia
methylated-DNA--protein-cysteine methyltransferase
O-6-methylguanine-DNA methyltransferase
COXPD16
Combined oxidative phosphorylation defect type 16
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency is a rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by hypertrophic cardiomyopathy, hepatic steatosis with elevated liver transaminases, exercise intolerance and muscle weakness. Neuro-opthalmological features (hemiplegic migraine, Leigh-like lesions on brain MRI, pigmentary retinopathy) have been reported later in life.
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
Bainbridge-Roppers syndrome
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome is rare, genetic, syndromic intellectual disability disorder with a variable phenotypic presentation typically characterized by microcephaly, severe feeding difficulties, failure to thrive, severe global development delay that frequently results in absent/poor speech, moderate to profound intellectual disability, hypotonia and a distinctive facies that includes prominent forehead, high-arched, thin eyebrows, hypertelorism, downslanting palpebral fissures, long, tubular nose with broad tip and prominent nasal bridge and wide mouth with full, everted lower lip.
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
FIME
Familial infantile myoclonus epilepsy
Familial infantile myoclonic epilepsy
Focal epilepsy-intellectual disability-dysarthria-ataxia syndrome
Focal epilepsy-intellectual disability-cerebro-cerebellar malformation is a rare, genetic neurological disorder characterized by early infantile-onset of seizures, borderline to moderate intellectual disability, cerebellar features including dysarthria and ataxia and cerebellar atrophy and cortical thickening observed on MRI imaging. Seizures are typically focal (with prominent eye blinking, facial and limb jerking), precipitated by fever and often commence with an oral sensory aura (anesthetized tongue sensation). When not properly controlled by anti-epileptic medication, weekly frequency and persistance into adult life is observed.
Focal epilepsy-intellectual disability-cerebro-cerebellar malformation
PMED
Progressive myoclonus epilepsy with dystonia
Progressive myoclonic epilepsy with dystonia is a rare, genetic epilepsy syndrome characterized by neonatal or early infantile onset of severe, progressive, typically frequent and prolonged myoclonic seizures that are refractory to treatment, associated with localized and/or generalized paroxysmal dystonia (which later becomes persistent). Other features include severe hypotonia, hemiplegia, psychomotor regression (or lack of psychomotor development) and progressive cerebral and cerebellar atrophy, with affected individuals becoming progressively non-reactive to environmental stimuli.
Progressive myoclonic epilepsy with dystonia
phosphorylase kinase catalytic subunit gamma 1
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_399808 with label: Male infertility with teratozoospermia due to single gene mutation
Monosomy 16q24.1
16q24.1 microdeletion syndrome is a partial autosomal monosomy characterized clinically by lethal pulmonary disease that presents as severe respiratory distress and refractory pulmonary hypertension within a few hours after birth and typically results in death from respiratory failure within the first months of life. Characteristic histological features of lung tissue include paucity of alveolar wall capillaries, alveolar wall thickening, muscular hypertrophy of the pulmonary arteries, and malposition of the small pulmonary veins. Various additional congenital malformations may be associated, mostly gastrointestinal (intestinal malrotation and atresias, anular pancreas), genitourinary (dilatation of urinary tracts, duplicated uterus) and cardiovascular anomalies (hypoplastic left heart and other congenital heart defects).
16q24.1 microdeletion syndrome
Phalangeal osteolysis
Phalangeal microgeodic syndrome is a rare primary osteolysis characterized by multiple small osteolytic areas and sclerosis in the phalanges of one or both hands associated with swelling and redness of the phalanges. Condition is benign, self-limited and may be associated with cold exposure.
Phalangeal microgeodic syndrome
Autosomal recessive cerebellar ataxia due to GBA2 deficiency
Autosomal recessive cerebellar ataxia with late-onset spasticity is a rare, genetic neurodegenerative disease characterized by childhood or adolescent-onset of cerebellar ataxia with dysarthria which slowly progresses and associates pyramidal signs, including lower limb spasticity, brisk reflexes, and Babinski and Hoffman signs. Patients typically present cerebellar ataxia with development of increasing asymmetric spasticity in upper and lower limbs, and variable axonal sensory or sensorimotor neuropathy. Additional heterogeneous features, including pes cavus, scoliolis, and abnormalities of the brain (e.g. cerebral atrophy), may also be associated.
Autosomal recessive cerebellar ataxia with late-onset spasticity
SGK196
protein-O-mannose kinase
Brain dopamine-serotonin vesicular transport disease is a newly discovered infantile-onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances.
Brain dopamine-serotonin vesicular transport disease
Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome is a genetic neurodegenerative disease characterized by normal early development followed by childhood onset optic atrophy with progressive vision loss and eventually blindness, followed by progressive neurological decline that typically includes cerebellar ataxia, nystagmus, dorsal column dysfunction (decreased vibration and position sense), spastic paraplegia and finally tetraparesis.
Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome
HBID
Hereditary benign corneal intraepithelial dyskeratosis
Hereditary benign intraepithelial dyskeratosis
Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome is a rare, genetic, corneal dystrophy disorder characterized by corneal opacification and dyskeratosis (which may cause visual impairment), associated with systemic features including palmoplantar hyperkeratosis, laryngeal dyskeratosis, pruritic hyperkeratotic scars, chronic rhintis, dyshidrosis and/or nail thickening.
Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome
9q21 microdeletion syndrome
Del(9)(q21)
Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to 9q21 microdeletion
CMTDIF
Autosomal dominant intermediate Charcot-Marie-Tooth disease type F is a rare hereditary motor and sensory neuropathy disorder characterized by the typical CMT phenotype (slowly progressive distal muscle atrophy and weakness in upper and lower limbs, distal sensory loss in extremities, reduced or absent deep tendon reflexes and foot deformities) with nerve biopsy demonstrating demyelinating and axonal changes and nerve conduction velocities varying from the demyelinating to axonal range.
Autosomal dominant intermediate Charcot-Marie-Tooth disease type F
CMT6X
CMTX6
X-linked Charcot-Marie-Tooth disease type 6 is a rare, genetic, principally axonal, peripheral sensorimotor neuropathy characterized by an X-linked dominant inheritance pattern and the childhood-onset of slowly progressive, moderate to severe, distal muscle weakness and atrophy of the lower extremities, as well as distal, panmodal sensory abnormalities, bilateral foot deformities (pes cavus, clawed toes), absent ankle reflexes and gait abnormalities (steppage gait). Females are usually asymptomatic or only present mild manifestations (mild postural hand tremor, mild wasting of hand intrinsic muscles).
X-linked Charcot-Marie-Tooth disease type 6
Cobblestone lissencephaly without muscular or eye involvement
Lissencephaly type 2 without muscular or eye involvement
Lissencephaly type 2 without muscular or ocular involvement
Cobblestone lissencephaly without muscular or ocular involvement is a form of cobblestone lissencephaly characterized by a constellation of brain malformations which can either exist alone or in conjunction with minimal muscular and ocular abnormalities. The clinical features of the disease include severe developmental delay, increased head circumference, hydrocephalus and seizures.
Cobblestone lissencephaly without muscular or ocular involvement
Lissencephaly type 2 with muscular and ocular involvement
MDDGA
Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies (MDDGA) is a cobblestone lissencephaly characterized by and considered to be pathognomonic of a continuum of recessive autosomal disorders with brain, ocular and muscular involvement. MDDGA includes Walker-Warburg syndrome, muscle-eye-brain disease, Fukuyama muscular and cerebral dystrophy and muscle eye brain disease with bilateral multicystic leukodystrophy.
Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
use http://www.orpha.net/ORDO/Orphanet_352687 with label: Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
OBSOLETE: Cobblestone lissencephaly type A
OBSOLETE: Cobblestone lissencephaly type C
OBSOLETE: Cobblestone lissencephaly type B
CLN13 disease
FILS syndrome
Facial dysmorphism-immunodeficiency-livedo-short stature syndrome is a rare genetic disease characterized by facial dysmorphism with malar hypoplasia and high forehead, immunodeficiency resulting in recurrent infections, impaired growth (with normal growth hormone production and response) resulting in short stature, and livedo affecting face and extremities. Immunological analyses show low memory B-cell and naïve T cell counts, decreased T cell proliferation, and reduced IgM, IgG2 and IgG4 titers. Patients do not exhibit increased susceptibility to cancer.
Facial dysmorphism-immunodeficiency-livedo-short stature syndrome
Retinol dystrophy-iris coloboma-comedogenic acne syndrome
Progressive retinal dystrophy due to retinol transport defect is a rare, genetic, metabolite absorption and transport disorder characterized by progressive rod-cone dystrophy, usually presenting with impaired night vision in childhood, progressive loss of visual acuity and severe retinol deficiency without keratomalacia. Association with ocular colobomas, severe acne and hypercholesterolemia has been reported.
Progressive retinal dystrophy due to retinol transport defect
Atypical Chédiak-Higashi syndrome
Attenuated Chédiak-Higashi syndrome (CHS) is a very rare and atypical form of CHS (see this term), a genetic disorder characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder.
Attenuated Chédiak-Higashi syndrome
Disorder of melanin metabolism
Type 1 oculocutaneous albinism (OCA1) describes a group of tyrosine related OCAs (see this term) that includes OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS) (see these terms).
Oculocutaneous albinism type 1
MP OCA type 1
OCA1-MP
Type 1 minimal pigment oculocutaneous albinism (OCA1-MP) is an extremely rare form of OCA1 (see this term) with minimal pigment present, characterized by blond hair, variable iris transillumination, visual acuity ranging from 20/80-20/200 and white skin, with or without skin nevi.
Minimal pigment oculocutaneous albinism type 1
OCA1-TS
TS OCA type 1
Type 1 temperature sensitive oculocutaneous albinism (OCA1-TS) is an extremely rare form of OCA1 (see this term) characterized by the production of temperature sensitive tyrosinase proteins leading to dark hair on the legs, arms and chest (cooler body areas) and white hair on the scalp, axilla and pubic area (warmer body areas).
Temperature-sensitive oculocutaneous albinism type 1
Waardenburg syndrome type 2 with ocular albinism
Ocular albinism with congenital sensorineural deafness is a rare, genetic, oculocutaneous disorder characterized by profound, congenital, sensorineural hearing loss in association with moderate to severe hypopigmentation of the ocular fundus, blue irides or partial heterochromia, and patchy or generalized hypopigmentation of the skin. White forelock, premature graying of hair, freckles, lentigines and café-au-lait macules are frequently associated. Other highly variable features include reduced visual acuity, strabismus, and an iris transillumination defect.
Ocular albinism with congenital sensorineural deafness
OCA7
Oculocutaneous albinism type 7 (OCA7), formerly called OCA5, is a form of oculocutaneous albinism (OCA; see this term) characterized by skin and hair hypopigmentation, nystagmus and iris transillumination.
Oculocutaneous albinism type 7
Buschke scleredema
Scleredema
Gamma-sarcoglycanopathy
LGMD2C
Limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency
Autosomal recessive limb-girdle muscular dystrophy type 2C (LGMD2C) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a childhood onset of progressive shoulder and pelvic girdle muscle weakness and atrophy frequently associated with calf hypertrophy, diaphragmatic weakness, and/or variable cardiac abnormalities. Mild to moderate elevated serum creatine kinase levels and positive Gowers sign are reported.
Autosomal recessive limb-girdle muscular dystrophy type 2C
ATR
Anthrax toxin receptor
TEM8
Tumor endothelial marker 8 precursor
ANTXR cell adhesion molecule 1
AGC1 deficiency
Mitochondrial aspartate-glutamate carrier 1 deficiency
Epileptic encephalopathy with global cerebral demyelination is a rare mitochondrial substrate carrier disorder characterized by severe muscular hypotonia, seizures (with or without episodic apnea) beginning in the first year of life, and arrested psychomotor development (affecting mainly motor skills). Severe spasticity with hyperreflexia has also been reported. Global cerebral hypomyelination is a characteristic imaging feature of this disease.
Epileptic encephalopathy with global cerebral demyelination
FPLCA
Familial primary localized cutaneous amyloidosis
ARHGAP48
KIAA0914
family with sequence similarity 13 member A
STN1, CST complex subunit
ATPIH
ATPIS
KIAA1021
Phospholipid-translocating ATPase
Potential phospholipid-transporting ATPase IH
ATPase phospholipid transporting 11A
dipeptidyl peptidase 9
BMS
Oral dysesthesia
Orodynia
Stomatodynia
Stomatopyrosis
Burning mouth syndrome
Rubinstein-Taybi syndrome due to CREBBP mutations
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome
Roifman syndrome is a rare, genetic immuno-osseous dysplasia disorder characterized by pre- and post-natal growth retardation, hypotonia, borderline to moderate intellectual disability, retinal dystrophy, spondyloepiphyseal dysplasia (epiphyseal dysplasia, epiphyses ossification delay, vertebral changes) and skeletal anomalies (brachydactyly, fifth finger clinodactyly), as well as humeral immunodeficiency characterized by inability to generate specific antibodies and low circulating B-cells. Craniofacial dysmorphism, that typically inlcudes microcephaly, hypertelorism, long palpebral fissures, prominent eyelashes, a narrow, tubular, upturned nose with hypoplastic alae nasi, long philtrum and thin upper lip, are also associated.
Roifman syndrome
Pyruvate carboxylase deficiency type A
Infantile pyruvate carboxylase (PC) deficiency (Type A) is a rare, severe form of PC deficiency characterized by infantile-onset, mild to moderate lactic acidemia, and a generally severe course.
Pyruvate carboxylase deficiency, infantile type
Pyruvate carboxylase deficiency type B
Severe neonatal pyruvate carboxylase (PC) deficiency (Type B) is a rare, extremely severe form of PC deficiency characterized by severe, early-onset metabolic acidosis, and a generally fatal outcome in early infancy.
Pyruvate carboxylase deficiency, severe neonatal type
Pyruvate carboxylase deficiency type C
Benign pyruvate carboxylase (PC) deficiency (Type C) is a rare, very mild form of PC deficiency characterized by episodic metabolic acidosis and normal or mildly delayed neurological development.
Pyruvate carboxylase deficiency, benign type
Congenital myasthenic syndromes with glycosylation defect
hPot1
protection of telomeres 1
Congenital arteriovenous anastomoses of the retina
Congenital arteriovenous communication of the retina
Congenital retinal arteriovenous anastomoses
Congenital retinal arteriovenous communication
Aneurysmal telangiectasia
Visible and exudative idiopathic juxtafoveolar retinal telangiectasis
Idiopathic macular telangiectasia type 1 is a rare, acquired, eye disease characterized by unilateral (rarely bilateral) abnormally dilated and tortuous capillaries around the fovea, associated with multiple arteriolar and venular aneurysms, lipid depositions, and intra-retinal cystoid degeneration. It leads to vision loss due to macular edema with hard exudates.
Idiopathic macular telangiectasia type 1
Occlusive idiopathic juxtafoveolar retinal telangiectasis
Idiopathic macular telangiectasia type 3 is a rare, acquired, eye disease characterized by progressive visual loss, due to bilateral juxtafoveolar capillary occlusions, capillary telangiectasia, and minimal exudation. It is associated with systemic or cerebral vascular occlusive disease.
Idiopathic macular telangiectasia type 3
Retinal vasoproliferative tumor
VPTR
Vasoproliferative tumor of the ocular fundus
Vasoproliferative tumor of the retina is a rare, benign, retinal vascular disease characterized by solitary or multiple, unilateral or bilateral, intra-retinal tumor(s), usually located in the peripheral infero-temporal quadrant, and often associated with sub- and intraretinal exudates, epiretinal membranes, exudative retinal detachment and cystoid macular edema, as well as, occasionally, retinal and vitreous hemorrhage. Patients may present with visual loss, floaters, and/or photopsia. Association with various conditions, such as retinitis pigmentosa, congenital retinal toxoplasmosis, retinopathy of prematurity, or coloboma, has been reported.
Vasoproliferative tumor of the retina
AMSH
STAM binding protein
DEP.5
KIAA0645
DEP domain containing 5
Glypican
Glypican proteoglycan 1
glypican 1
KIAA1140
tetratricopeptide repeat domain 7A
G-ALPHA-q
GAQ
G protein subunit alpha q
DNA topoisomerase II alpha
KIAA1549
EAAC1
EAAT3
solute carrier family 1 member 1
ATP5A
OMR
ORM
hATP1
ATP synthase F1 subunit alpha
deoxyribonuclease 1
BANK
B cell scaffold protein with ankyrin repeats 1
SLIT and NTRK like family member 6
HCA127
zinc finger C4H2-type containing
IL-17RD
IL17RLM
SEF
interleukin 17 receptor D
FGF-13
fibroblast growth factor 17
MKP-3
PYST1
dual specificity phosphatase 6
sprouty RTK signaling antagonist 4
fibronectin leucine rich transmembrane protein 3
ARMD10
CD284
TLR-4
hToll
toll like receptor 4
CaCC2
chloride channel accessory 4
Beta-galactosidase-1 deficiency
GLB1 deficiency
Landing disease
GM1 gangliosidosis is a rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features.
GM1 gangliosidosis
CDA017
oculocutaneous albinism 7, autosomal recessive
leucine rich melanocyte differentiation associated
MGC2793
SH3 and cysteine rich domain 3
DDK1
mitochondrial genome maintenance exonuclease 1
Acid beta-glucosidase deficiency
Glucocerebrosidase deficiency
Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease).
Gaucher disease
ankyrin repeat domain 55
CD122
interleukin 2 receptor subunit beta
Subacute spongiform encephalopathy, Gerstmann-Straussler type
gene) and marked by particular multicentric amyloid plaques in the brain.
Gerstmann-Straussler-Scheinker syndrome
RHOGDI
Rho GDP dissociation inhibitor alpha
Nanophthalmia is a severe form of microphthalmia characterized by a small eye with a short axial length, severe hyperopia, an elevated lens/eye ratio, and a high incidence of angle-closure glaucoma.
Nanophthalmia
KIAA0473
PARK19
auxilin
DnaJ heat shock protein family (Hsp40) member C6
39S ribosomal protein L44, mitochondrial
mitochondrial ribosomal protein L44
ASXL transcriptional regulator 3
NOS1
ZC2HC12A
nanos C2HC-type zinc finger 1
SVAT
SVMT
solute carrier family 18 member A2
Guanine nucleotide-binding protein subunit beta-4
transducin beta chain 4
G protein subunit beta 4
pyruvate dehydrogenase kinase 3
laminin subunit beta 1
CATSF
CLN13
cathepsin F
DNA polymerase epsilon catalytic subunit A
POLE1
DNA polymerase epsilon, catalytic subunit
retinol binding protein 4
Aralar
solute carrier family 25 member 12
serine active site containing 1
CoQ10 deficiency
Coenzyme Q10 deficiency
immunoglobulin heavy variable 4-34
Delta-1-pyrroline 5-carboxylate synthetase deficiency
Neurocutaneous syndrome, Bicknell type
P5CS deficiency
ALDH18A1-related De Barsy syndrome combines intellectual deficit, bilateral cataracts, and skin and joint hyperlaxity.
ALDH18A1-related De Barsy syndrome
Tp55
CD27 molecule
Geographic helicoid peripapillary choroidopathy
Serpiginous choroiditis
Erdheim-Chester disease (ECD), a non-Langerhans form of histiocytosis, is a multisystemic disease characterized by various manifestations such as skeletal involvement with bone pain, exophthalmos, diabetes insipidus, renal impairment and central nervous system (CNS) and/or cardiovascular involvement.
Erdheim-Chester disease
Madelung disease, or deformity (MD) is a predominantly bilateral wrist anomaly characterized by shortened and bowed radii and long ulnae leading to dorsal dislocation of the distal ulna and limited mobility of the wrist and elbow.
Madelung deformity
Adult-onset PLS
Adult-onset primary lateral sclerosis
PLS
Primary lateral sclerosis (PLS) is an idiopathic non-familial motor neuron disease characterized by slowly progressive upper motor neuron dysfunction leading to spasticity, mild weakness in voluntary muscle movement, hyperreflexia, and loss of motor speech production.
Primary lateral sclerosis
beta-1,3-galactosyltransferase-6
beta3GalT6
beta-1,3-galactosyltransferase 6
3q26-q27microdeletion syndrome
Del(3)(q26q27)
Monosomy 3q26-q27
Monosomy 3q26q27
3q26q27 microdeletion syndrome is a rare partial autosomal monosomy syndrome characterized by neonatal hypotonia, prenatal and postnatal growth deficiency, severe feeding difficulties, global developmental delay and intellectual disability, dental anomalies (delayed tooth eruption, delayed loss of primary teeth, dental crowding), recurrent respiratory infections, thrombocytopenia and facial dysmorphism (flat facial profile, medially sparse eyebrows, epicanthal folds, flat nasal bridge and tip, short philtrum). Behavioral abnormalities (ADHD, Asperger syndrome) have also been reported.
3q26q27 microdeletion syndrome
COXPD
Combined OXPHOS defect
Combined OXPHOS deficiency
Combined oxidative phosphorylation defect
Mitochondrial disorder due to a defect in mitochondrial protein synthesis
CDG syndrome type IIm
CDG-IIm
CDG2M
Congenital disorder of glycosylation type 2m
Congenital disorder of glycosylation type IIm
SLC35A2-CDG is a congenital disorder of glycosylation characterized by severe or profound global developmental delay, early epileptic encephalopathy, muscular hypotonia, dysmorphic features (coarse facies, thick eyebrows, broad nasal bridge, thick lips, inverted nipples), variable ocular defects and brain morphological abnormalities on brain MRI (cerebral atrophy, thin corpus callosum).
SLC35A2-CDG
Combined D-2-hydroxyglutaric acidemia and L-2-hydroxyglutaric acidemia
Combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria
D,L-2-HGA
D,L-2-hydroxyglutaric acidemia
D,L-2-hydroxyglutaric aciduria is a rare inborn error of metabolism characterized by severe neonatal epileptic encephalopathy, episodes of apnea and respiratory distress, severe global developmental delay or absent psychomotor development, severe muscular hypotonia or absent voluntary movements, feeding difficulties and failure to thrive, absence of visual contact, abnormal brain morphology (including cerebral atrophy, ventriculomegaly and hypoplasia or dysplasia of the corpus callosum), mild dysmorphic features (frontal bossing, hypertelorism, downslanting palpebral fissures, flat nasal bridge), elevated CSF and plasma lactate and urinary Krebs cycle metabolites.
D,L-2-hydroxyglutaric aciduria
mtDNA depletion syndrome
The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, and can affect a specific organ or a combination of organs, with the main presentations described being either hepatocerebral (i.e. hepatic dysfunction, psychomotor delay), myopathic (i.e. hypotonia, muscle weakness, bulbar weakness), encephalomyopathic (i.e. hypotonia, muscle weakness, psychomotor delay) or neurogastrointestinal (i.e gastrointestinal dysmotility, peripheral neuropathy). Additional phenotypes include fatal infantile lactic acidosis with methylmalonic aciduria, spastic ataxia (early-onset spastic ataxia-neuropathy syndrome), and Alpers syndrome.
Mitochondrial DNA depletion syndrome
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
Monosomy 19p13.13
19p13.13 microdeletion syndrome is a rare partial autosomal monosomy characterized by global developmental delay, moderate intellectual disability, macrocephaly, overgrowth, hypotonia, and facial dysmorphism (frontal bossing, down-slanting palpebral fissures). Other associated features variably include ataxia, seizures, ventriculomegaly, ocular abnormalities (strabismus, optic nerve hypoplasia) and gastrointestinal problems (abdominal pain, vomiting, constipation).
19p13.13 microdeletion syndrome
Atypical HUS with DGKE deficiency
D-HUS with DGKE deficiency
Hemolytic-uremic syndrome without diarrhea with DGKE deficiency
aHUS with DGKE deficiency
Atypical hemolytic-uremic syndrome with DGKE deficiency
HMG-CoA synthase deficiency
3-hydroxy-3-methylglutaryl-CoA synthase deficiency (HMG-CoA synthase deficiency) is a rare autosomal recessively inherited disorder of ketone body metabolism (see this term), reported in less than 20 patients to date, characterized clinically by episodes of decompensation (often associated with gastroenteritis or fasting) that present with vomiting, lethargy, hepatomegaly, non ketotic hypoglycemia and, in rare cases, coma. Patients are mostly asymptomatic between acute epidodes. HMG-CoA synthase deficiency requires an early diagnosis in order to avoid hypoglycemic crises that can lead to permanent brain damage or death.
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
FUT12
GDP-fucose protein O-fucosyltransferase 1
KIAA0180
O-FUT
O-Fuc-T
Peptide-O-fucosyltransferase
protein O-fucosyltransferase 1
Hereditary retinoblastoma
Non-hereditary retinoblastoma
AGAT deficiency
L-Arginine:glycine amidinotransferase (AGAT) deficiency is a very rare type of creatine deficiency sydrome characterized by global developmental delay, intellectual disability, and myopathy.
L-Arginine:glycine amidinotransferase deficiency
ALS4
Distal hereditary motor neuropathy with upper motor neuron signs
dHMN with upper motor neuron signs
Amyotrophic lateral sclerosis type 4
Serine deficiency
Serine-deficiency syndrome is a very rare infantile-onset potentially treatable neurometabolic disorder characterized clinically by microcephaly, neurodevelopmental disorders and seizures. Three serine-deficiency syndromes have been described: 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency, 3-phosphoserine phosphatase (3-PSP) deficiency, and phosphoserine aminotransferase deficiency (see these terms).
Neurometabolic disorder due to serine deficiency
KIAA1895
family with sequence similarity 111 member A
ARCL2A
Autosomal recessive cutis laxa type 2A
Glutaric aciduria type 3
Glutaryl-CoA oxidase deficiency
Glutaryl-CoA oxidase deficiency is a peroxisomal disorder leading to glutaric aciduria. The prevalence is unknown. There is no distinctive phenotype associated with this disorder and one of the reported cases was asymptomatic. Transmission appears to be autosomal recessive.
Glutaric acidemia type 3
ARCL2, progeroid type
ARCL2B
Autosomal recessive cutis laxa type 2, progeroid type
Autosomal recessive cutis laxa type 2B is a rare, hereditary, developmental defect with connective tissue involvement characterized by cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet, and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported.
Autosomal recessive cutis laxa type 2B
ARCL2, Debré type
ARCL2, classic type
Autosomal recessive cutis laxa type 2, Debré type
Autosomal recessive cutis laxa type 2, classic type
AADC deficiency
Aromatic L-amino acid decarboxylase deficiency is a very rare, severe, genetic neurometabolic disorder associated with clinical manifestations related to underproduction of serotonin and dopamine, mainly hypotonia, hypokinesia, ptosis oculogyric crises, and signs of autonomic dysfunction.
Aromatic L-amino acid decarboxylase deficiency
SGLT1 deficiency
Glucose-galactose malabsorption (GGM) is a very rare, potentially lethal, genetic metabolic disease characterized by impaired glucose-galactose absorption resulting in severe watery diarrhea and dehydration with onset inthe neonatal period.
Glucose-galactose malabsorption
ATOS
Arterial TOS
Arterial cervical rib syndrome
Arterial costoclavicular syndrome
Arterial hyperabduction syndrome
Arterial scalenus anticus syndrome
Arterial thoracic outlet compression syndrome
Arterial thoracic outlet syndrome (ATOS) is a form of thoracic outlet syndrome (TOS; see this term) that presents as unilateral upper extremity ischemia.
Arterial thoracic outlet syndrome
Effort subclavian vein thrombosis
Paget-Schrotter disease
VTOS
Venous TOS
Venous cervical rib syndrome
Venous costoclavicular syndrome
Venous hyperabduction syndrome
Venous scalenus anticus syndrome
Venous thoracic outlet compression syndrome
Venous thoracic outlet syndrome (VTOS) is a form of thoracic outlet syndrome (TOS; see this term) that manifests as unilateral (rarely bilateral) arm pain and cyanosis.
Venous thoracic outlet syndrome
OSMF
Oral submucous fibrosis (OSMF) is a chronic, progressive disease that alters the fibroelasticity of the oral submucosa, prevalent in India and Southeast Asia but rare elsewhere, and characterized by burning and pain in the oral cavity, loss of gustatory sensation, the presence of blanched fibrous bands and stiffening of the oral mucosa and oro-pharynx (leading to trismus and a progressive reduction in mouth opening) and an increased risk of developing oral squamous cell cancer (3-19%). It is usually associated with the chewing of the areca nut (an ingredient in betel quid) but the exact etiology is unknown and there is currently no effective treatment.
Oral submucous fibrosis
Macroblepharon-ectropion-hypertelorism-macrostomia syndrome
Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome is a rare developmental defect during embryogenesis disorder characterized by macroblepharon, ectropion, and facial dysmorphism which includes severe hypertelorism, downslanting palpebral fissures, posteriorly rotated ears, broad nasal bridge, long and smooth philtrum, and macrostomia with thin upper lip vermilion border. Other features may include large fontanelles, prominent metopic ridge, thick eyebrows, mild synophrys, increased density of upper eyelases, anterverted nares, abnormal dentition and capillary hemangioma.
Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome
Short ulna-dysmorphism-hypotonia-intellectual disability syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by mild to severe global development delay, severe intellectual disability, mild hypotonia, a short ulna, hirsutism of the face and extremities, minimal scoliosis, and facial dysmorphism, notably a tall broad forehead, synophrys, hypertelorism, malar hypoplasia, broad nose with thick alae nasi, low-set, small ears, long philtrum, thin upper lip and everted lower lip vermilion.
Short ulna-dysmorphism-hypotonia-intellectual disability syndrome
TRIAD3
UBCE7IP1
ZIN
ring finger protein 216
Primary essential cutis verticis gyrata is a rare, progressive dermis disorder characterized by thickening of the scalp resulting in redundancy of the skin which gives rise to folds and grooves that give the scalp a cerebriform appearance. Folds cannot be corrected by pressure or traction and typically are symmetric and extend anteroposteriorly from vertex to occiput and/or transversely in occipital region. Additional features may include mild subungual hyperkeratosis and distal onycholysis of the nail plates of the great toes. It is not associated with neurological and ophthalmological changes, nor with secondary causes.
Primary essential cutis verticis gyrata
Primary non-essential cutis verticis gyrata is a rare, genetic, dermis disorder characterized by slowly progressive thickening of the scalp, which becomes raised and forms ridges and furrows with symmetrical distribution resembling the cerebral gyri and cannot be flattened by traction or pressure, associated with ophthalmologic (e.g. congenital cataract) and/or neurological abnormalities (e.g. intellectual disability, epilepsy, microcephaly, encephalopathy).
Primary non-essential cutis verticis gyrata
37LRP
LRP
p40
ribosomal protein SA
SCID due to CARD11 deficiency
Severe combined immunodeficiency due to CARD11 deficiency is a rare combined T and B cell immunodeficiency characterized by normal numbers of T and B lymphocytes, increased numbers of transitional B cells and hypo- to agammaglobulinemia, decreased numbers of regulatory T cells and defects in T-cell functions. It presents with severe susceptibility to infections, including opportunistic infections.
Severe combined immunodeficiency due to CARD11 deficiency
Combined immunodeficiency due to IL21R deficiency
Synactyly-camptodactyly and clinodactyly of fifth fingers-bifid halluces syndrome
Wahab syndrome
Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome
Ectasic coloboma
Volubilis syndrome
Morning glory syndrome (MGS) is an optic neuropathy characterized by a congenital funnel shaped excavation of the posterior fundus that incorporates the optic disc malformation (resembling the morning glory flower) MGS is usually unilateral and may result in a decrease in best-corrected visual acuity (BCVA). MGS either occurs isolated or associated to other ocular or non-ocular anomalies.
Morning glory syndrome
CD360
interleukin 21 receptor
CARS1
Cysteine tRNA ligase 1, cytoplasmic
cysteinyl-tRNA synthetase
tropomyosin 4
Idiopathic nephrotic syndrome
Genetic non-syndromic renal or urinary tract malformation
zinc finger protein 408
MKLP-1
MKLP1
kinesin family member 23
KIAA0187
BMS1, ribosome biogenesis factor
WINS1
lines homolog 1
Primary renal tubular hypokalemic hypomagnesemia with hypocalciuria
Gitelman syndrome (GS), also referred to as familial hypokalemia-hypomagnesemia, is characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion.
Gitelman syndrome
MOGCT
Malignant ovarian germ cell tumor
Ovarian germ cell cancer
Malignant germ cell tumor of ovary is a rare ovarian cancer (see this term) arising from germ cells in the ovary, frequently unilateral at diagnosis which characteristically presents during adolescence with pelvic mass, fever, vaginal bleeding and acute abdomen.
Malignant germ cell tumor of ovary
Malignant ovarian SCST
Malignant ovarian sex cord-stromal tumor
Malignant sex cord stromal tumor (SCST) of ovary is a rare ovarian cancer (see this term) arising from granulosa, theca, sertoli and leydig cells or stromal fibroblasts, occurring at any age and presenting with abdominal or pelvic mass, and characterized (with the exception of fibroma) by the production of sex steroids resulting in manifestations of hormone excess, with a relatively favorable prognosis.
Malignant sex cord stromal tumor of ovary
STMP3
TSAP6
dudlin-2
STEAP3 metalloreductase
CD11b
complement component 3 receptor 3 subunit
integrin subunit alpha M
UGAT
UGT
UGT1
UGT2
UGTL
solute carrier family 35 member A2
CTP
solute carrier family 25 member 1
ankyrin-3, node of Ranvier
ankyrin-G
ankyrin 3
RAB28, member RAS oncogene family
NEM8
SRYP
Sarcosynapsin
nemaline myopathy type 8
kelch like family member 40
GD2 synthase, GM2 synthase
beta1-4GalNAc-T
beta-1,4-N-acetyl-galactosaminyltransferase 1
Familial megaloblastic anemia
Selective cobalamin malabsorption with proteinuria
Imerslund-Grasbeck syndrome (IGS) or selective vitamin B12 (cobalamin) malabsorption with proteinuria is a rare autosomal recessive disorder characterized by vitamin B12 deficiency commonly resulting in megaloblastic anemia, which is responsive to parenteral vitamin B12 therapy and appears in childhood.
Gräsbeck-Imerslund disease
KIAA1675
KMT8F
MDS1/EVI1-like
MEL1
PFM13
PR-domain zinc finger protein 16
Transcription factor MEL1
PR/SET domain 16
GTP-binding protein Roc1
RIBB
ROC1
Ric-like, expressed in many tissues
Ras like without CAAX 1
CD156c
MADM
kuz
ADAM metallopeptidase domain 10
DS-Epi1
DSEPI
dermatan sulfate epimerase
AF10
MLLT10, histone lysine methyltransferase DOT1L cofactor
hnRNPH
heterogeneous nuclear ribonucleoprotein H1
DBX
DDX14
HLP2
DEAD-box helicase 3 X-linked
HI/HA syndrome
Hyperinsulinism-hyperammonemia syndrome (HIHA) is a frequent form of diazoxide-sensitive diffuse hyperinsulinism (see this term), characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), asymptomatic hyperammonemia and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae. Epilepsy and cognitive deficit that are unrelated to hypoglycemia may also occur.
Hyperinsulinism-hyperammonemia syndrome
Acute opioid poisoning is a rare intoxication with opioids, a large group of alkaloid analgesics, mainly characterized by miosis (pinpoint pupil), respiratory depression (bradypnea/apnea) and central nervous system depression (sedation or coma). Other manifestations include hypotension, reduced bowel motility, hypothermia and hypoglycemia. Naloxone, a competitive inhibitor of the mu-opioid receptor, is a potent antagonist and is used as the antidote for opioid intoxication.
Acute opioid poisoning
Hereditary glaucoma is a clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of the optic nerve head, leading to field defects, visual loss and blindness. Hereditary glaucoma can be sub-classified as primary (congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome, Coats syndrome). The clinical presentation is variable and is based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities.
Hereditary glaucoma
FV and FVIII combined deficiency
Familial multiple coagulation factor deficiency
Combined deficiency of factor V and factor VIII is an inherited bleeding disorder due to the reduction in activity and antigen levels of both factor V (FV) and factor VIII (FVIII) and characterized by mild-to-moderate bleeding symptoms.
Combined deficiency of factor V and factor VIII
Polymicrogyria (PMG) is a heterogenous group of cerebral cortical malformations characterized by excessive cortical folding and abnormal cortical layering that, depending on its topographic distribution, presents with variable combinations of neurological symptoms of varying severity such as epilepsy, developmental delay, intellectual disability, motor dysfunction (e.g. spasticity), and pseudobulbar palsy
Polymicrogyria
ACS
Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit.
Acrocallosal syndrome
GBM
Glioblastoma multiforme
Glioblastomas are malignant astrocytic tumors (grade IV according to the WHO classification).
Glioblastoma
KIAA1512
MHC14
MYH14
myosin heavy chain 7B
FBH
FBH2
FHH2
G protein subunit alpha 11
RNF63
ZFP127
zinc finger protein 127
makorin ring finger protein 3
MAD7
MXD7
bHLHd13
MLX, MAX dimerization protein
complement C1r
CILD23
armadillo repeat containing 4
CILD25
EKN1
dynein, axonemal, assembly factor 4
dynein axonemal assembly factor 4
CILD24
Meichroacidin
RSP44
RSPH10A
radial spoke head 1 homolog
BLU
CILD22
zinc finger MYND-type containing 10
FBXW1A
Fwd1
bTrCP
bTrCP1
beta-TrCP1
betaTrCP
beta-transducin repeat containing E3 ubiquitin protein ligase
K2p3.1
TASK
TASK-1
potassium two pore domain channel subfamily K member 3
Familial glucocorticoid deficiency (FGD) is a group of primary adrenal insufficiencies characterized clinically by neonatal hyperpigmentation, hypoglycemia, failure to thrive, and recurrent infections, and biochemically by glucocorticoid deficiency without mineralocorticoid deficiency.
Familial glucocorticoid deficiency
CHN
CSMF
MINOR
NOR1
nuclear receptor subfamily 4 group A member 3
Npl3
RBP56
hTAFII68
TATA-box binding protein associated factor 15
KIAA1851
mannose-1-phosphate guanyltransferase beta
GDP-mannose pyrophosphorylase B
chromodomain helicase DNA binding protein 2
sodium voltage-gated channel beta subunit 2
NPHP16
ankyrin repeat and sterile alpha motif domain containing 6
storkhead box 1
Intestinal lymphangiectasia
use http://www.orpha.net/ORDO/Orphanet_104012 with label: Rare inflammatory bowel disease
Bacterial TSS
in streptococcal TSS (see this term).
Bacterial toxic-shock syndrome
Staphylococcal scarlet fever
Generalized exfoliative disease
SSSS
Staphylococcal scalded skin syndrome
Bullous impetigo
Staphylococcal necrotizing pneumonia is a rare, bacterial, pulmonary infectious disease, caused by a Panton-Valentine leukocidin-producing Staphylococcus aureus strain, characterized by severe respiratory failure, extensive, rapidly progressing pneumonia and hemorrhagic lung necrosis. Patients typically present with influenza-like symptoms, such as fever, cough, and chest pain, as well as hemoptysis, hypotension, leukopenia, and severe respiratory symptoms that rapidly evolve to acute respiratory distress syndrome and septic shock. High mortality is associated.
Staphylococcal necrotizing pneumonia
major histocompatibility complex, class II, DP beta 1
Thromboangiitis obliterans
Buerger disease, also known as thromboangiitis obliterans (TAO), is a rare inflammatory non-necrotizing vascular disease affecting the small- and medium-sized arteries and veins of the upper and lower extremities characterized by endarteritis and vaso-occlusion due to occlusive thrombus development. The development and progression of the disease is consistently associated with exposure to tobacco.
Buerger disease
Borrmann gastric cancer type 4
Linitis plastica of the stomach
Gastric linitis plastica (gastric LP) is a malignant, diffuse, infiltrative gastric adenocarcinoma.
Gastric linitis plastica
HH114
chromosome 15 open reading frame 41
HBP44
LDL receptor related protein associated protein 1
aquaporin 5
BART1
binder of Arl2
ADP ribosylation factor like GTPase 2 binding protein
Congenital anomaly of the great veins
Ring chromosome
Genetic progeroid syndrome
ARHGAP14
KIAA0411
MEGAP
WRP
SLIT-ROBO Rho GTPase activating protein 3
TRKB
neurotrophic receptor tyrosine kinase 2
UQCR4
cytochrome c1
PGK
PKG
PKG1
protein kinase cGMP-dependent 1
Genetic syndromic Pierre Robin syndrome
IDI
Genetic intractable diarrhea of infancy
Genetic intestinal disease due to fat malabsorption
FAP163
WD repeat domain 60
Familial intestinal polyposis
Genetic intestinal polyposis
High myopia-sensorineural deafness syndrome is a rare genetic disease characterized by high myopia, typically ranging from -6.0 to -11.0 diopters, and moderate to profound, bilateral, progressive sensorineural hearing loss with prelingual-onset. Affected individuals do not present other systemic, ocular or connective tissue manifestations.
High myopia-sensorineural deafness syndrome
Severe neurodegenerative syndrome due to BSCL2 deficiency
Severe neurodegenerative syndrome with lipodystrophy is a rare, genetic, neurodegenerative disorder characterized by progressive psychomotor and cognitive regression (manifesting with gait ataxia, spasticity, loss of language, mild to severe intellectual disability, pyramidal and extrapyramidal signs and, frequently, development of tretraplegia or tetraparesis) associated with variable degrees of lipodystrophy, hepatomegaly, hypertriglyceridemia and muscular hypertorphy. Hyperactivity, tremor and development of seizures may also be associated.
Severe neurodegenerative syndrome with lipodystrophy
LCCS5
Lethal congenital contracture syndrome type 5
Fetal akinesia-cerebral and retinal hemorrhage syndrome is a rare, lethal, congenital myopathy syndrome characterized by decreased fetal movements and polyhydraminos in utero and the presence of akinesia, severe hypotonia with respiratory insufficiency, absent reflexes, joint contractures, skeletal abnormalities with thin ribs and bones, intracranial and retinal hemorrhages and decreased birth weight in the neonate.
Fetal akinesia-cerebral and retinal hemorrhage syndrome
HBSL
Hypomyelination with brain stem and spinal cord involvement and leg spasticity is a rare, genetic, leukodystrophy disorder characterized by diffuse hypomyelination in the supratentorial brain white matter, brain stem and spinal cord. Patients usually present nystagmus, lower limb spasticity, hypotonia, and motor developmental delay, as well as MRI signal abnormalities involving the corpus callosum, anterior brainstem, pyramidal tracts, superior and inferior cerebellar peduncles, dorsal columns and/or lateral corticospinal tracts.
Hypomyelination with brain stem and spinal cord involvement and leg spasticity
Temtamy preaxial brachydactyly syndrome is a rare, genetic dysostosis syndrome characterized by bilateral, symmetrical, preaxial brachydactyly associated with hyperphalangy, motor developmental delay and intellectual disability, growth retardation, sensorineural hearing loss, dental abnormalities (incuding misalignment of teeth, talon cusps, microdontia), and facial dysmorphism that includes plagiocephaly, round face, hypertelorism, malar hypoplasia, malformed ears, microstomia and micro/retrognathia.
Temtamy preaxial brachydactyly syndrome
IBA57 deficiency
Multiple mitochondrial dysfunctions syndrome type 3
Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome is a rare, genetic, slowly progressive neurodegenerative disease characterized by delayed psychomotor development beginning in infancy, mild to profound intellectual disability, gait and stance ataxia, pyramidal signs (hyperreflexia, extensor plantar responses), dysarthria, and ocular abnormalities (e.g. nystagmus, oculomotor apraxia, abduction deficits, esotropia, ptosis). Brain imaging reveals progressive, generalized cerebellar atrophy, mild ventriculomegaly and, in some, retrocerebellar cysts.
Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome
Autosomal recessive congenital cerebellar ataxia due to ionotropic glutamate receptor delta-2 subunit deficiency
SCAR18
Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency is a rare, genetic, slowly progressive neurodegenerative disease resulting from GRID2 deficiency characterized by motor, speech and cognitive delay, hypotonia, truncal and appendicular ataxia, and eye movement abnormalities (tonic upgaze, nystagmus, oculomotor apraxia). Intention tremor may also be associated. Brain imaging reveals progressive cerebellar atrophy with cerebellar flocculus particularly affected.
Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency
G-ALPHA-o
G protein subunit alpha o1
BBIS
Beaulieu-Boycott-Innes syndrome
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by global development delay, microcephaly, moderate to severe intellectual disability and facial dysmorphism which includes tall forehead, high anterior hairline, short upslanting palpebral fissures, deep-set eyes and a long nose with a low-hanging columella. Additionally, congenital renal and cardiac malformations (such as horseshoe kidney, unilateral renal agenesis atrioventricular septal defects, patent ductus arteriosus), as well as corpus callosum dysplasia, may be associated.
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy
SMALED
Autosomal dominant childhood-onset proximal spinal muscular atrophy
Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy with contractures
SMALED2
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
Testicular and paratesticular tumor
Tumor of testis and paratestis
Adenocarcinoma of the paratestis
Paratesticular adenocarcinoma
Teratoma of the testis
Testicular teratoma
Testicular sex cord-stromal tumor
Sex cord-stromal tumor of testis
Non-dysgerminomatous germ cell tumor of testis
Testicular non seminomatous germ cell tumor
Testicular non-dysgerminomatous germ cell tumor
Testicular non seminomatous germ cell tumor describes a group of testicular germ cell tumors (see this term) occurring in the third decade of life (mean age: 25 years) with a usually painless unilateral mass in the scrotum or in some cases with gynaecomastia and/or back and flack pain and characterized by a more aggressive clinical course than testicular seminomatous germ cell tumors (see this term) with rapid involvement of blood vessels and a poorer prognosis. Histologically, they can be either undifferentiated (embryonal carcinoma), differentiated (teratoma, yolk sac tumor, choriocarcinoma), or can consist of a mixture of seminomatous and nonseminomatous components.
Non-seminomatous germ cell tumor of testis
Testicular germ cell tumor
Germ cell tumor of testis
Shaheen syndrome
Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by severe intellectual disability with significant speech and language impairment, hypohydrosis (often resulting in hyperthermia) with normal sweat gland appearance, tooth enamel hypoplasia, palmoplantar hyperkeratosis and a high frequency of acquired microcephaly. Mild facial dysmorphism, including lateral flaring of the eyebrows, broad nasal tip, and thick vermilion border, may also be observed.
Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
Intellectual disability-strabismus syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by moderate to severe intellectual disability and esotropia. Other associated features may include growth failure (underweight, failure to thrive, short stature), microcephaly, tone abnormalities (hypotonia, spasticity), epilepsy, behavioral problems (hyperactivity, aggressiveness), and/or abnormal brain morphology, including arachnoid cyst, cerebral atrophy, mild ventriculomegaly, abnormal CNS myelination or corpus callosum agenesis.
Intellectual disability-strabismus syndrome
mtDNA depletion syndrome, hepatocerebrorenal form
#64258;exia, ataxia, sensory neuropathy, epilepsy, sensorineural hearing impairment, psychomotor regression, athetosis, nystagmus, and/or ophthalmoplegia. Patients typically present with recurrent vomiting, severe failure to thrive, feeding difficulties, and fasting hypoglycemia.
Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
Leukoencephalopathy with mild cerebellar ataxia and white matter edema
Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency
LGMD2R
Autosomal recessive limb-girdle muscular dystrophy type 2R (LGMD2R) is a form of limb-girdle muscular dystrophy characterized by the adolescent or early adulthood-onset of progressive proximal muscle weakness and mild facial muscle weakness, with patients becoming wheelchair bound in their fourth to fifth decade of life. Mild, bilateral winged scapula, incomplete right bundle branch block, and a sinus rhythm with very rare ventricular extrasystoles have also been reported.
Autosomal recessive limb-girdle muscular dystrophy type 2R
AESD
AIEF
Acute infantile encephalopathy predominantly affecting the frontal lobes
Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) is a rare childhood-onset epilepsy syndrome associated with infection and characterized by a biphasic clinical course. The initial symptom is a prolonged febrile seizure on day 1 (the first phase). Afterwards, patients have variable levels of consciousness from normal to coma. Irrespective of the consciousness levels, magnetic resonance imaging (MRI) during the first 2 days shows no abnormality. During the second phase (usually days 4 - 6), patients show a cluster of seizures and deterioration of consciousness. Diffusion-weighted images (DWI) on MRI reveal the brain lesions with reduced diffusion predominantly in the subcortical white matter. After the second acute phase, consciousness levels improve with the emerging focal neurological signs. Neurological outcomes of AESD vary from normal to mild or severe sequelae including cerebral atrophy, mental retardation, paralysis and epilepsy.
Acute encephalopathy with biphasic seizures and late reduced diffusion
ADP platelet receptor P2Y12 defect
P2Y12 defect is a rare hemorrhagic disorder characterized by mild to moderate bleeding diathesis with easy bruising, mucosal bleedings, and excessive post-operative hemorrhage due to defect of the platelet P2Y12 receptor resulting in selective impairment of platelet responses to adenosine diphosphate.
P2Y12 defect
NORSE
New-onset refractory status epilepticus is an acute encephalopathy with inflammation-mediated status epilepticus characterized by an acute refractory status epilepticus, typically of the tonic-clonic type, following prodromal symptoms of confusion, fever, fatigue, headache, symptoms of gastrointestinal or upper respiratory tract infection, behavioral changes or hallucinations. Brain MRI abnormalities and abnormal findings in CSF, including pleocytosis and/or elevated protein levels, are frequently found during acute episode. Treatment-resistant epilepsy, cognitive and psychiatric impairments are usual consequences.
New-onset refractory status epilepticus
Acute encephalopathy with inflammation-mediated status epilepticus
Extragonadal germ cell tumor
Gonadal germ cell tumor
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by borderline to severe intellectual disability, global development delay, feeding difficulties, microcephaly, short stature and mild facial dysmorphism, including thick eyebrows, long eyelashes, prominent incisors and/or thin upper lip. Other associated features may include hypermetropia with or without esotropia, behavioral anomallies (e.g. autistic behavior, sleeping disturbances), urogenital abnormalities (e.g. crytorchidism, inguinal hernia), single palmar crease, fifth-finger clinodactyly and cardiac defects (e.g. ASD, PDA).
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome
LCPS
LMNA-related cardiocutaneous progeria syndrome is a rare, genetic, premature aging syndrome characterized by adulthood-onset cutaneous manifestations that result in a prematurely aged appearance (i.e. premature thinning and graying of scalp hair, loss of subcutaneous fat, tightening of skin) associated with prominent cardiovascular manifestations, such as accelerated atherosclerosis, calcific valve disease, and cardiomyopathy. Patients present loss of eyebrows and eyelashes in childhood and have a predisposition to develop malignancies.
LMNA-related cardiocutaneous progeria syndrome
LGMD2T
Autosomal recessive limb-girdle muscular dystrophy type 2T (LGMD2T) is a form of limb-girdle muscular dystrophy, that can present from birth to early childhood, characterized by hypotonia, microcephaly, mild proximal muscle weakness (leading to delayed walking and difficulty climbing stairs), mild intellectual disability and epilepsy. Additional manifestations reported in some patients include cataracts, nystagmus, cardiomyopathy, and respiratory insufficiency.
Autosomal recessive limb-girdle muscular dystrophy type 2T
OBSOLETE: GMPPB-related congenital muscular dystrophy
MDP syndrome
Mandibular hypoplasia-hearing loss-progeroid syndrome
Mandibular hypoplasia-deafness-progeroid syndrome is a rare, genetic, premature aging disease characterized by sensorineural deafness, generalized lack of subcutaneous fatty tissue (although with increased truncal deposition) noted from childhood, scleroderma, and facial dysmorphism which includes prominent eyes, a beaked nose, small mouth, crowded teeth and mandibular hypoplasia. Other associated features include growth delay, joint contractures, telangiectasia, hypogonadism (with lack of breast development in females), cryptorchidism, skeletal muscle atrophy, hypertriglycemia and diabetes mellitus/insulin resistance.
Mandibular hypoplasia-deafness-progeroid syndrome
XPDS
X-linked parkinsonism-spasticity syndrome is a rare genetic neurological disorder characterized by parkinsonian features (including resting or action tremor, cogwheel rigidity, hypomimia and bradykinesia) associated with variably penetrant spasticity, hyperactive deep tendon reflexes and Babinski sign.
X-linked parkinsonism-spasticity syndrome
20q11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, due to partial duplication of the long arm of chromosome 20, characterized by psychomotor and developmental delay, moderate intellectual disability, metopic ridging/trigonocephaly, short hands and/or feet and distinctive facial features (epicanthus, hypoplastic supraorbital ridges, horizontal/downslanting palpebral fissures, small nose with depressed nasal bridge and anteverted nostrils, prominent cheeks, retrognathia and small, thick ears). Growth delay and cryptororchidism are often associated features.
20q11.2 microduplication syndrome
Premature aging syndrome, Penttinen type
Acroosteolysis-keloid-like lesions-premature aging syndrome is a rare, genetic, progeroid syndrome disorder characterized by a prematurely aged appearance (including lipoatrophy, thin, translucent skin, sparse, thin hair, and skeletal muscle atrophy), delayed tooth eruption, keloid-like lesions on pressure regions, and skeletal abnormalities including marked acroosteolysis, brachydactyly with small hands and feet, kyphoscoliosis, osteopenia, and progressive joint contractures in the fingers and toes. Craniofacial features include a thin calvarium, delayed closure of the anterior fontanel, flat occiput, shallow orbits, malar hypoplasia and narrow nose.
Acroosteolysis-keloid-like lesions-premature aging syndrome
Distal deletion 1q
Monosomy 1qter
Telomeric deletion 1q
1qter deletion syndrome is a chromosomal anomaly characterized by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastro-oesophalgeal and urogenital anomalies.
Distal monosomy 1q
PGC-1alpha
PGC1
PGC1A
PPARgamma coactivator 1alpha
PPARG coactivator 1 alpha
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
2p13.2 microdeletion syndrome is a rare partial autosomal monosomy characterized by global development delay, intellectual disability, behavioral abnormalities (hyperactivity, attention deficit and autistic behaviors), brachycephaly and variable facial dysmorphism. Other associated features may include vertebral fusions, mild contractures of knees and elbows, and feeding difficulties during infancy.
2p13.2 microdeletion syndrome
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by global development delay with very limited or absent speech and language, severe intellectual disability, long slender fingers, ocular abnormalities (typically strabismus or hypermetropia), and facial dysmorphism that includes a grimacing facial expression, a tubular-shaped nose with a prominent, broad base and tip, and other variable features, such as broad forehead, hypertelorism, deep-set eyes, narrow palpebral fissures, short philtrum and/or broad mouth.
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
HUPRA syndrome
Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome is a rare, genetic, mitochondrial disease characterized by early-onset progressive renal failure, manifesting with hyperuricemia, hyponatremia, hypomagnesemia, hypochloremic metabolic alkalosis, elevated BUN and polyuria, associated with systemic manifestations which include pulmonary hypertension, failure to thrive, global developmental delay, hypotonia and ventricular hypertrophy. Additional features include prematurity, elevated serum lactate, diabetes mellitus and, in some, pancytopenia.
Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
Von Recklinghausen disease due to NF1 mutation or intragenic deletion
Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion
Cantu craniofaciofrontodigital syndrome
Craniofaciofrontodigital syndrome is a rare multiple congenital anomalies syndrome characterized by mild intellectual disability, short stature, cardiac anomalies, mild dysmorphic features (macrocephaly, prominent forehead, hypertelorism, exophthalmos), cutis laxa, joint hyperlaxity, wrinkled palms and soles and skeletal anomalies (sella turcica, wide ribs and small vertebral bodies).
Craniofaciofrontodigital syndrome
SCA37
Spinocerebellar ataxia with altered vertical eye movements
Spinocerebellar ataxia type 37 (SCA37) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term), characterized by a cerebellar syndrome along with altered vertical eye movements.
Spinocerebellar ataxia type 37
AxD type I
Alexander disease type I (AxD type I) is an astrogliopathy and the most severe and common form of Alexander disease (AxD; see this term), presenting before the age of 4 and characterized by seizures, megalencephaly and developmental delay with progressive deterioration.
Alexander disease type I
AxD type II
Alexander disease type II (AxD type II) is an astrogliopathy and a form of Alexander disease (AxD; see this term) characterized by ataxia, bulbar symptoms, spastic paraparesis, palatal myoclonus, and autonomic symptoms.
Alexander disease type II
X-linked dyserythropoietic anemia with abnormal platelets and neutropenia is a rare, genetic, constitutional dyserythropoietic anemia disorder characterized by moderate to severe anemia without thrombocytopenia, variable degrees of neutropenia, and bone marrow biopsy findings of trilineage dysplasia and hypocellularity of erythroid and granulocytic lineages. Peripheral blood findings include anisocytosis, macrocytosis, poikilocytosis, elliptocytes, and fragmented erythrocytes.
X-linked dyserythropoietic anemia with abnormal platelets and neutropenia
Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome is a rare, genetic, syndromic microphthalmia disorder characterized by bilateral, usually asymmetrical, microphthalmia associated typically with a unilateral coloboma, truncal obesity, borderline to mild intellectual disability, hypogenitalism and, more variably, nystagmus, cataracts and developmental delay.
Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome
Balint-Holmes syndrome
Optic ataxia-gaze apraxia-simultanagnosia syndrome
Balint syndrome is a rare neurologic disease characterized by the triad of optic ataxia, ocular apraxia and simultanagnosia due to posterior parietal lobe lesions. Patients report ophthalmologic difficulties in the absence of underlying ophthalomologic anomalies and present severe visual and spatial disabilities in locating and reaching objects, initiating voluntary eye movements and perceiving more than one object at a time.
Balint syndrome
Familial CAD
Hereditary CAD
Hereditary cervical artery dissection
Familial cervical artery dissection is a rare, genetic, neurological disorder characterized by dissection of the cervical artery in various members of a single family, presenting with variable manifestations which range from asymptomatic to the triad of ipsilateral pain in the head, neck, and face, Horner syndrome, and cerebral or retinal ischemic symptoms. Headache and cerebral ischemic features are most frequently observed.
Familial cervical artery dissection
COL4A1-related brain small vessel disease with hemorrhage
COL4A1-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome
COL4A1-related familial vascular leukoencephalopathy is a rare, genetic, neurological disease characterized by the presence of fragile small-vessel intracerebral vasculature in various members of a single family, manifesting, clinically, with single or recurrent hemorrhagic and/or ischemic stroke and, frequently, ocular and renal involvement. Neuroimaging reveals diffuse, periventricular leukoencephalopathy associated with dilated perivascular spaces, lacunar infarction and microhemorrhages.
COL4A1-related familial vascular leukoencephalopathy
Hereditary sensory and autonomic neuropathy type I
Hereditary sensory neuropathy type I (HSN I) is a slowly progressive neurological disorder characterised by prominent predominantly distal sensory loss, autonomic disturbances, autosomal dominant inheritance, and juvenile or adulthood disease onset.
Hereditary sensory and autonomic neuropathy type 1
GEFS+
Generalized epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome in which family members display a seizure disorder from the GEFS+ spectrum which ranges from simple febrile seizures (FS) to the more severe phenotype of myoclonic-astatic epilepsy (MAE) or Dravet syndrome (DS) (see these terms).
Generalized epilepsy with febrile seizures-plus
PNS
Paraneoplastic cerebellar degeneration
Paraneoplastic neurological syndromes (PNS) can be defined as remote effects of cancer that are not caused by the tumor and its metastasis, or by infection, ischemia or metabolic disruptions.
Paraneoplastic neurologic syndrome
GALNAC-4-ST1
carbohydrate sulfotransferase 8
Monosomy 17q21.31
17q21.31 microdeletion syndrome
Koolen-De Vries syndrome due to a point mutation
Autosomal recessive cerebral atrophy is a rare, genetic, neurodegenerative disorder characterized by ventriculomegaly and progressive, symmetrical atrophy of the cerebral cortex grey and white matter (sparing the midbrain, brainstem, cerebellum and infratentorial segments), manifesting in early infancy with acquired microcephaly, irritability, regression of developmental milestones, feeding difficulties, akathisia, exaggerated startle response, spasticity (fisted hands, stiff arms, leg scissoring), abnormal muscle tone with hypotonic trunk and hypertonic extremities, visual impairment and seizures.
Autosomal recessive cerebral atrophy
Adiposalgia
Adipose tissue rheumatism
Dercum disease
Lipomatosis dolorosa
Neurolipomatosis
Adiposis dolorosa or Dercum's disease is characterised by the development of multiple, painful, subcutaneous lipomas in association with obesity, asthenia and fatigue, and range of mental disturbances including instability, depression, confusion, dementia and epilepsy.
Adiposis dolorosa
CBL syndrome
Noonan syndrome-like disorder with JMML
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia is a rare, genetic, polymalformative syndrome with increased risk of developing cancer characterized by a Noonan-like phenotype, including typical dysmorphic facial features (i.e. high forehead, hypertelorism, downslanting palpebral fissures, ptosis, low-set ears, prominent philtrum and short neck with or without pterygium colli), thoracic abnormalities, congenital heart defects and short stature, associated with a very frequent ocurrence of juvenile myelomonocytic leukemia. Developmental delay, ectodermal anomalies, joint laxity, and hypotonia may also be associated.
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
GCT of bone
Osteoclastoma
Giant cell tumor of bone
CMT4B3
Charcot-Marie-Tooth disease with focally folded myelin
Charcot-Marie-Tooth disease type 4B3 (CMT4B3) is a subtype of Charcot-Marie-Tooth type 4 characterized by a childhood onset of slowly progressing, demyelinating sensorimotor neuropathy, focally folded myelin sheaths in nerve biopsy, reduced nerve conduction velocities (less than 38 m/s), and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, and sensory loss).
Charcot-Marie-Tooth disease type 4B3
Familial benign flecked retina is a rare retinal dystrophy characterized by diffuse bilateral white-yellow fleck-like lessions extending to the far periphery of the retina but sparing the foveal region, with asymptomatic clinical phenotype and absence of electrophysiologic deficits.
Familial benign flecked retina
15q26.3 microdeletion syndrome
Ichthyosis-short stature-brachydactyly-microspherophakia syndrome
Non-immune HF
Non-immune fetal edema
Non-immune fetal hydrops
Non-immune hydrops fetalis (NIHF), a form of HF, is a severe fetal condition defined as the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities, and is the end-stage of a wide variety of disorders.
Non-immune hydrops fetalis
G6P deficiency
GSD due to G6P deficiency
GSD type 1
GSD type I
Glycogen storage disease due to G6P deficiency
Glycogen storage disease type 1
Glycogen storage disease type I
Glycogenosis type 1
Glycogenosis type I
Hepatorenal glycogenosis
Von Gierke disease
Glycogenosis due to glucose-6-phosphatase (G6P) deficiency or glycogen storage disease, (GSD), type 1, is a group of inherited metabolic diseases, including types a and b (see these terms), and characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver.
Glycogen storage disease due to glucose-6-phosphatase deficiency
IHF
Immune HF
Immune fetal edema
Immune fetal hydrops
Immune hydrops fetalis (IHF), a form of HF, describes the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities due to maternal rhesus (Rh) incompatibility.
Immune hydrops fetalis
X-linked intellectual disability due to GRIA3 mutations
Systemic EBV+ T-cell LPD of childhood
Systemic EBV-positive T-cell lymphoproliferative disease of childhood
Systemic Epstein-Barr virus (EBV)-positive T-cell lymphoproliferative disease of childhood is a rare and very aggressive neoplastic disease emerging after a primary acute or chronic active EBV infection. It presents with persisting fever and malaise, hepatosplenomegaly with or without lymphadenopathy, liver failure, severe pancytopenia and a rapid progression towards multi-organ failure and hemophagocytic syndrome with a fatal issue. It is characterized by clonal proliferation of EBV-infected T cells with an activated cytotoxic phenotype.
Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood
Angiocentric cutaneous T-cell lymphoma of childhood
HVLL
Hydroa-like cutaneous T-cell lymphoma
Hydroa vacciniforme-like lymphoma is a very rare Epstein-Barr virus-associated malignant lymphoproliferative disorder characterized by a chronic, recurrent, vesiculopapular rash, which subsequently ulcerates and scars, located mainly on sun-exposed areas and which is associated with systemic manifestations, such as fever, weight loss, asthenia, facial edema, arthralgia, lymphadenopathy, hepatosplenomegaly and/or increased liver enzymes. Hypersensitivity to mosquito bites has been associated and an increased risk of developing systemic lymphoma has been reported.
Hydroa vacciniforme-like lymphoma
ALK+ LBCL
ALK+ large B-cell lymphoma
Anaplastic lymphoma kinase (ALK)-positive diffuse large B-cell lymphoma is a very rare variant of diffuse large B-cell lymphoma (DLBCL; see this term) mainly affecting middle-aged immunocompetent men and characterized by a consistent primary involvement of lymph nodes (mainly in the cervical and mediastinum lymph nodes) and with infrequent extra nodal involvement of the bone marrow and other extra-nodal sites (head and neck region, liver, spleen, and gastrointestinal tract). It has an aggressive disease course, and is associated with a poor prognosis.
ALK-positive large B-cell lymphoma
EOSRD
Early-onset severe retinal dystrophy
SECORD
Severe early childhood onset retinal dystrophy (SECORD) is an inherited retinal dystrophy characterized by a severe congenital night blindness, progressive retinal dystrophy and nystagmus. Best corrected visual acuity can reach 0.3 in the first decade of life and can pertain well into the second decade of life. Blindness is often complete by the age of 30 years.
Severe early-childhood-onset retinal dystrophy
Infantile epileptic-dyskinetic encephalopathy is a monogenic disease with epilepsy characterized by developmental delay and infantile spasms in the first months of life, followed by chorea and generalized dystonia and progressing to quadriplegic dyskinesia, recurrent status dystonicus, intractable focal epilepsy and severe intellectual disability.
Infantile epileptic-dyskinetic encephalopathy
Anti-C1q vasculitis
Mac Duffie hypocomplementemic urticarial vasculitis
Mac Duffie syndrome
McDuffie hypocomplementemic urticarial vasculitis
McDuffie syndrome
Hypocomplementemic urticarial vasculitis (HUV) is an immune complex-mediated small vessel vasculitis characterized by urticaria and hypocomplementemia (low C1q with or without low C3 and C4), and usually associated with circulating anti-C1q autoantibodies. Arthritis, pulmonary disease, ocular inflammation, and glomerulonephritis are common systemic manifestations.
Hypocomplementemic urticarial vasculitis
use http://www.orpha.net/ORDO/Orphanet_360 with label: Glioblastoma
Bipartite talus is a rare, genetic bone disorder characterized by the presence of two non-fused talar bone fragments, with the posterior fragment located at the level of the posterior talar process. Patients may present with foot and/or ankle pain (exercise-induced or not), repetitive ankle sprains, chronic ankle ligamentous laxity, restricted ankle motion (i.e. plantar flexion, eversion, and inversion), and mild swelling.
Bipartite talus
Dermatostomatitis, Stevens Johnson type
Stevens-Johnson syndrome is a limited form of toxic epidermal necrolysis (see this term) characterized by destruction and detachment of the skin epithelium and mucous membranes involving less than 10% of the body surface area.
Stevens-Johnson syndrome
ELMO domain containing 3
MGC2655
fSAP35
functional spliceosome-associated protein 35
THO complex 6
ceramide synthase 3
Primary osteodysplasia
Primary skeletal dysplasia
Primary bone dysplasia
Primary osteodysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments
Primary skeletal dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments
Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments
Primary osteodysplasia with micromelia
Primary skeletal dysplasia with micromelia
Primary bone dysplasia with micromelia
OPD spectrum disorder
OPSD
Otopalatodigital syndrome spectrum disorder is a primary bone dysplasia and encompasses a group of congenital anomalies that are characterized by skeletal dysplasia of varying clinical severity and an X linked dominant pattern of inheritance. This group includes otopalatodigital syndrome type 1 and 2 (OPD1, OPD2) which are characterized in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and skeletal dysplasia; Melnick-Needles syndrome (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in most males; frontometaphyseal dysplasia (FMD); and terminal osseous dysplasia - pigmentary defects.
Otopalatodigital syndrome spectrum disorder
Dysostosis
DENN/MADD domain containing 7A
DENND7A
MTMR5
myotubularin related 5
SET binding factor 1
Dysostosis with limb anomaly as a major feature
Dysostosis with limb and face anomalies as a major feature
Acrofacial dysostosis
Intellectual disability-brachydactyly-Pierre Robin syndrome is a rare developmental defect during embryogenesis syndrome characterized by mild to moderate intellectual disability and phsychomotor delay, Robin sequence (incl. severe micrognathia and soft palate cleft) and distinct dysmorphic facial features (e.g. synophris, short palpebral fissures, hypertelorism, small, low-set, and posteriorly angulated ears, bulbous nose, long/flat philtrum, and bow-shaped upper lip). Skeletal anomalies, such as brachydactyly, clinodactyly, small hands and feet, and oral manifestations (e.g. bifid, short tongue, oligodontia) are also associated. Additional features reported include microcephaly, capillary hemangiomas on face and scalp, ventricular septal defect, corneal clouding, nystagmus and profound sensorineural deafness.
Intellectual disability-brachydactyly-Pierre Robin syndrome
BMP-9
BMP9
growth differentiation factor 2
MT-SP2
Membrane-type serine protease 2
TMPRSS3
Transmembrane serine protease 3
Type II membrane serine protease
transmembrane serine protease 4
trnN
mitochondrially encoded tRNA asparagine
AP-1
c-fos
Fos proto-oncogene, AP-1 transcription factor subunit
fibroblast growth factor 16
Rare bone disease related to a common gene or pathway defect
Aggrecan-related bone disorder
TRPV4-related bone disorder
AAV receptor
AAVR
KIAA1837
KIAA0319 like
Slob
PX domain containing serine/threonine kinase like
TIP27
ZNF802
JAZF zinc finger 1
aspartate tRNA ligase 1, cytoplasmic
aspartyl-tRNA synthetase
Alpha-1,4-glucosidase acid deficiency
GSD due to acid maltase deficiency
GSD type 2
GSD type II
Glycogen storage disease type 2
Glycogen storage disease type II
Glycogenosis due to acid maltase deficiency
Glycogenosis type 2
Glycogenosis type II
Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes: Glycogen storage disease due to acid maltase deficiency, infantile onset, non-classic infantile onset and adult onset (see these terms). Early onset forms are more severe and often fatal.
Glycogen storage disease due to acid maltase deficiency
CSS1
KIAA0990
chondroitin sulfate synthase 1
GluD2
GluR-delta-2
glutamate ionotropic receptor delta type subunit 2
Iron-sulfur cluster assembly factor for biotin synthase- and aconitase-like mitochondrial proteins, with a mass of 57kDa
IBA57, iron-sulfur cluster assembly
KIAA0699
BICD cargo adaptor 2
COD2
KIAA1134
component of oligomeric golgi complex 6
TAD3
tRNA-specific adenosine deaminase 3 homolog (S. cerevisiae)
adenosine deaminase, tRNA specific 3
RDC8
adenosine A2a receptor
11 zinc finger transcriptional repressor
CCCTC-binding factor
CDC2
CDC2 homolog (S. cerevisiae)
DNA polymerase delta 1, catalytic subunit
SARS
SERS
SYS
SerRSmt
mtSerRS
serine tRNA ligase 2, mitochondrial
seryl-tRNA synthetase 2, mitochondrial
Primary short bowel syndrome
spinocerebellar ataxia 37
Amylo-1,6-glucosidase deficiency
Cori disease
Cori-Forbes disease
Forbes disease
GDE deficiency
GSD due to glycogen debranching enzyme deficiency
GSD type 3
GSDIII
Glycogen storage disease type 3
Glycogen storage disease type III
Glycogenosis due to glycogen debranching enzyme deficiency
Glycogenosis type 3
Glycogenosis type III
Limit dextrinosis
Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy.
Glycogen storage disease due to glycogen debranching enzyme deficiency
B-cell lineage specific activator
BSAP
paired box 5
Amylopectinosis
GSD due to glycogen branching enzyme deficiency
GSD type 4
GSD type IV
Glycogen storage disease type 4
Glycogen storage disease type IV
Glycogenosis due to glycogen branching enzyme deficiency
Glycogenosis type 4
Glycogenosis type IV
Glycogen branching enzyme (GBE) deficiency (Andersen's disease or amylopectinosis), or glycogen storage disease type 4 (GSD4), is a rare and severe form of glycogen storage disease which accounts for approximately 3% of all the glycogen storage diseases (see these terms).
Glycogen storage disease due to glycogen branching enzyme deficiency
BUB1A
hBUB1
BUB1 mitotic checkpoint serine/threonine kinase
BUB3L
BUB3, mitotic checkpoint protein
G protein-coupled receptor 35
NF15S2
macrophage stimulating 1
CILD26
FBB18
Kur
kurly homolog (zebrafish)
cilia and flagella associated protein 298
CFAP250
CILD27
DRC2
FAP250
NYD-SP28
coiled-coil domain containing 65
CILD28
CT140
HSD-3.8
SP75
TPIS
sperm associated antigen 1
GSD due to muscle glycogen phosphorylase deficiency
GSD type 5
GSD type V
Glycogen storage disease type 5
Glycogen storage disease type V
Glycogenosis due to muscle glycogen phosphorylase deficiency
Glycogenosis type 5
Glycogenosis type V
McArdle disease
Myophosphorylase deficiency
Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5) , is a severe form of glycogen storage disease characterized by exercise intolerance.
Glycogen storage disease due to muscle glycogen phosphorylase deficiency
CCP4
cytosolic carboxypeptidase 4
ATP/GTP binding protein like 1
HAP
NR1B2
RRB2
retinoic acid receptor beta
HsPK 21
NEK2A
NLK1
PPP1R111
RP67
protein phosphatase 1, regulatory subunit 111
NIMA related kinase 2
Alcohol-responsive dystonia
Hereditary essential myoclonus
Myoclonic dystonia
Myoclonus-dystonia syndrome (MDS) is a rare movement disorder characterized by mild to moderate dystonia along with 'lightning-like' myoclonic jerks.
Myoclonus-dystonia syndrome
GSD due to liver glycogen phosphorylase deficiency
GSD type 6
GSD type VI
Glycogen storage disease type 6
Glycogen storage disease type VI
Glycogenosis due to liver glycogen phosphorylase deficiency
Glycogenosis type 6
Glycogenosis type VI
Hepatic glycogen phosphorylase deficiency
Hepatic phosphorylase deficiency
Liver glycogen phosphorylase deficiency
Liver phosphorylase deficiency, or glycogen storage disease type 6b (Hers' disease, GSD 6b) is a benign and rare form of glycogen storage disease.
Glycogen storage disease due to liver glycogen phosphorylase deficiency
Autoimmune hypoparathyroidism
ABIN-1
KIAA0113
NAF1
Nef-associated factor 1 SNP
VAN
virion-associated nuclear-shuttling protein
TNFAIP3 interacting protein 1
A20
OTUD7C
TNF alpha induced protein 3
UBCH7
ubiquitin conjugating enzyme E2 L3
CD252
OX-40L
gp34
TNF superfamily member 4
BSPI
ETA-1
Early T-lymphocyte activation 1
secreted phosphoprotein 1
IRAK
pelle
interleukin 1 receptor associated kinase 1
Avian erythroblastosis virus E26 (v-ets) oncogene homolog-1
ETS-1
ets protein
ETS proto-oncogene 1, transcription factor
multiple C2 and transmembrane domain containing 2
BTBD29
LZTR-1
leucine zipper like transcription regulator 1
septin 14
Congenital disorder of glycosylation due to PIGT deficiency
MCAHS type 3
Multiple congenital anomalies-hypotonia-seizures syndrome type 3
PIGT-CDG
Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome is a rare congenital disorder of glycosylation characterized by neonatal hypotonia, global development delay, developmental regress and severe to profound intellectual disability, infantile onset seizures that are initially associated with febrile episodes with subsequent transition to unprovoked seizures, impaired vision with esotropia and nystagmus, progressive cerebral and cerebellar atrophy, skeletal abnormalities (including brachycephaly, scoliosis, slender long bones, delayed bone age, pectus excavatum and osteopenia), inverted nipples and dysmorphic features including high and narrow forehead, frontal bossing, short nose, depressed nasal bridge, anteverted nares, high palate and wide open mouth consistent with facial hypotonia. Other features may include cardiac abnormalities (such as patent ductus arteriosus, atrial septal defects), urogenital abnormalities (such as nephrocalcinosis, urolithiasis), and low plasma concentration of alkaline phosphatase.
Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome
LGMD2S
Autosomal recessive limb-girdle muscular dystrophy type 2S (LGMD2S) is a form of limb-girdle muscular dystrophy characterized by childhood-onset of progressive proximal muscle weakness (leading to reduced ambulation) with myalgia and fatigue, in addition to infantile hyperkinetic movements, truncal ataxia, and intellectual disability. Additional manifestations include scoliosis, hip dysplasia, and less commonly, ocular features (e.g. myopia, cataract) and seizures.
Autosomal recessive limb-girdle muscular dystrophy type 2S
Intellectual disability-hyperkinetic movement-truncal ataxia syndrome
Congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome
VPS45 deficiency
Congenital neutropenia-myelofibrosis-nephromegaly syndrome is rare, genetic, primary immunodeficiency disorder characterized by severe congenital neutropenia, bone marrow fibrosis and neutrophil dysfunction which is refractory to granulocyte colony-stimulating factor, manifesting with life-threatening infections and/or deep-seated abscesses, hepato-/splenomegaly, thrombocytopenia, hypergammaglobulinemia, anemia with reticulocytosis and nephromegaly. Other reported features include osteosclerosis and neurological abnormalities (e.g. developmental delay, cortical blindness, hearing loss, thin corpus callosum or dysrhythima on EEG).
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
SIFD syndrome
Congenital sideroblastic anemia -B cell immunodeficiency- periodic fever-developmental delay syndrome is a form of constitutional sideroblastic anemia (see this term), characterized by severe microcytic anemia, B-cell lymphopenia , panhypogammaglobulinemia and variable neurodegeneration. The disease presents in infancy with recurrent febrile illnesses, gastrointestinal disturbances, developmental delay, seizures, ataxia and sensorineural deafness. Most patients require regular blood transfusion, iron chelation, and intravenous immunoglobulin (IVIG) replacement. Stem cell transplantation has been reported to be successful.
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
RI-CMT type C
Autosomal recessive intermediate Charcot-Marie-Tooth disease type C is a rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by childhood to adulthood-onset of progressive, moderate to severe, predominantly distal, mostly lower limb muscle weakness and atrophy, foot deformities (including pes cavus and hammer toes), absent deep tendon reflexes and distal sensory loss associated with decreased motor and sensory nerve conduction velocities and features of both demyelinating and axonal neuropathy on sural nerve biopsy.
Autosomal recessive intermediate Charcot-Marie-Tooth disease type C
Obesity due to SIM1 deficiency
Del(2)(p21) without cystinuria
2p21 microdeletion syndrome without cystinuria is a rare partial autosomal monosomy characterized by weak fetal movements, severe infantile hypotonia and feeding difficulties that spontaneously improve with time, urogenital abnormalities (hypospadias or hypoplastic labia majora), global development delay, mild intellectual disability and facial dysmorphism (dolichocephaly, frontal bossing, bilateral ptosis, midface retrusion, open mouth with tented upper lip vermilion). Affected individuals have borderline elevated serum lactate but no cystinuria.
2p21 microdeletion syndrome without cystinuria
2p21 contiguous gene deletion syndrome
Homozygous 2p21 microdeletion syndrome
Cardiac anomalies-developmental delay-facial dysmorphism syndrome
use http://www.orpha.net/ORDO/Orphanet_442835 with label: Undetermined early-onset epileptic encephalopathy
OBSOLETE: Early infantile epileptic encephalopathy without suppression burst
mtDNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
use http://www.orpha.net/ORDO/Orphanet_2919 with label: Orofaciodigital syndrome type 5
OBSOLETE: DDX59-related orofaciodigital syndrome
COXPD17
Combined oxidative phosphorylation defect type 17 is a rare, genetic, mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by infantile-onset of severe hypertrophic cardiomyopathy (that occasionally progresses to dilated cardiomyopathy) associated with failure to thrive, global development delay, muscular hypotonia, elevated serum lactate and complex I deficiency in skeletal muscle biopsy. Intellectual disability, pericardial effusion and a mild cardiac phenotype have been also reported.
Combined oxidative phosphorylation defect type 17
PCH9
Pontocerebellar hypoplasia type 9 is a rare, genetic, subtype of non-syndromic pontocerebellar hypoplasia characterized by progressive cerebellum and brainstem atrophy, corpus callosum hypo-/aplasia and progressive post-natal microcephaly. Patients typically present profound global developmental delay, spastic tetraparesis, seizures, cortical visual impairment and, on neuroimaging, abnormal brain morphology that includes pontocerebellar hypoplasia, ''figure of 8'' midbrain appearance, and, more variably, interhemispheric cysts, ventriculomegaly and cerebral dysmyelination.
Pontocerebellar hypoplasia type 9
Primary hyperaldosteronism-seizures-neurological abnormalities syndrome
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome is a rare genetic neurological disorder characterized by intrauterine growth retardation, failure to thrive, infantile onset of sensorineural deafness, severe global developmental delay or absent psychomotor development, paraplegia or quadriplegia with dystonia and pyramidal signs, microcephaly, ocular abnormalities (strabismus, optic atrophy), mildly dysmorphic features (deep-set eyes, prominent nasal bridge, micrognathia), seizures and abnormalities of brain morphology (hypomyelinating white matter changes, cerebral atrophy).
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
Contiguous ABCD1 DXS1357E deletion syndrome
Zellweger-like contiguous gene deletion syndrome
CADDS is a rare, genetic, neurometabolic disease characterized by severe intrauterine growth retardation, failure to thrive, profound neonatal hypotonia, severe global development delay, elevated very long chain fatty acids in plasma, and neonatal cholestasis leading to hepatic failure and death. Other features include ocular abnormalities (e.g. blindness and cataracts), sensorineural deafness, seizures, and abnormal brain morphology (notably delayed CNS myelination and ventriculomegaly).
CADDS
Der(8)t(8;12)
Intellectual disability-seizures-macrocephaly-obesity syndrome is a rare syndromic obesity due to complex chromosomal rearrangement characterized by development delay and intellectual disability, childhood-onset obesity, seizures, poor coordination and broad-based gait, macrocephaly and mild dysmorphic features (such as narrow palpebral fissures, malar hypoplasia and thin upper lips), eczema, ocular abnormalities and a social personality.
Intellectual disability-seizures-macrocephaly-obesity syndrome
CblJ defects
Cobalamin J defect
Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblJ
Methylmalonic aciduria with homocystinuria, type cblJ
Methylmalonic acidemia with homocystinuria, type cblJ
Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX
Methylmalonic aciduria with homocystinuria, type cblX
Methylmalonic acidemia with homocystinuria, type cblX
MMCAT syndrome
Microcornea-myopic chorioretinal atrophy-telecanthus syndrome is rare, genetic, developmental defect of the eye disease characterized by childhood onset of mild to severe myopia with microcornea and chorioretinal atrophy, typically associated with telecanthus and posteriorly rotated ears. Other variable features include early-onset cataracts, ectopia lentis, ecotpia pupilae and retinal detachment.
Microcornea-myopic chorioretinal atrophy-telecanthus syndrome
Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome is a rare, genetic, congenital limb malformation syndrome characterized by bilateral short broad thumbs, short deviated index fingers, clinodactyly of the fifth fingers, broad, valgus-deviated halluces and laterally-deviated, overlapping second toe, associated with severe pectus excavatum and craniofacial dysmorphism (including brachycephaly, low anterior hairline, flat supraorbital ridges, telecanthus, upslanting palpebral fissures, maxillary hypoplasia, posteriorly rotated ears, microsomia and micrognathia). Radiological findings include thumb, index, and middle finger hyperphalangy, with severe delta phalanxes in affected fingers and halluces.
Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome
Congenital erythroderma-hypotrichosis-recurrent infections-multiple food allergies syndrome
SAM syndrome
Severe dermatitis-multiple allergies-metabolic wasting syndrome is a rare, genetic, epidermal disorder characterized by congenital erythroderma with severe psoriasiform dermatitis, ichthyosis, severe palmoplantar keratoderma, yellow keratosis on the hands and feet, elevated immunoglobulin E, multiple food allergies, and metabolic wasting. Other variable features may include hypotrichosis, nail dystrophy, recurrent infections, mild global developmental delay, eosinophillia, nystagmus, growth impairment and cardiac defects.
Severe dermatitis-multiple allergies-metabolic wasting syndrome
Diffuse palmoplantar keratoderma with painful fissures is a rare, genetic, isolated palmoplantar keratoderma disorder characterized by non-epidermolytic, diffuse hyperkeratotic lesions affecting both the palms and the soles, associated with a tendency of painful fissuring. Contrary to the clinical findings, histologic examination reveals findings suggestive of keratosis palmoplantaris striata, with orthohyperkeratosis featuring widening of the intercellular spaces and disadhesion of keratocytes in the upper epidermal layers.
Diffuse palmoplantar keratoderma with painful fissures
AEZ
Acrodermatitis enteropathica, zinc deficiency type
Inherited zinc deficiency
Acrodermatitis enteropathica (AE) is a rare inherited inborn error of metabolism resulting in a severe zinc deficiency and characterized by acral dermatitis, alopecia, diarrhea and growth failure.
Acrodermatitis enteropathica
GSD due to phosphorylase kinase deficiency
GSD type 9
GSD type IX
Glycogen storage disease due to PhK deficiency
Glycogen storage disease type 9
Glycogen storage disease type IX
Glycogenosis due to phosphorylase kinase deficiency
Glycogenosis type 9
Glycogenosis type IX
Gycogenosis due to PhK deficiency
Glycogen storage disease (GSD) due to phosphorylase kinase deficiency is a group of inborn errors of glycogen metabolism that is clinically and genetically heterogeneous. This group comprises GSD due to liver phosphorylase kinase (PhK) deficiency, GSD due to muscle PhK deficiency and GSD due to liver and muscle PhK deficiency (see these terms).
Glycogen storage disease due to phosphorylase kinase deficiency
Focal palmoplantar keratoderma with joint keratoses is a rare, genetic, isolated palmoplantar keratoderma disorder characterized by focal hyperkeratotic lesions affecting the pressure- and mechanical trauma-bearing areas of the palms and soles, as well as hyperkeratotic plaques involving joints, including knees, elbows, ankles and dorsa of interphalangeal joints.
Focal palmoplantar keratoderma with joint keratoses
Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies syndrome
Intellectual disability-facial dysmorphism-hand anomalies syndrome is a rare syndromic intellectual disability disorder characterized by moderate intellectual disability, variable hand abnormalities (including brachydactyly, cutaneous and osseous syndactyly), and facial dysmorphism that includes short palpebral fissures, bulbous nasal tip, thin upper and lower vermilion and broad, pointed chin. Other features, including obesity, microcephaly, short stature and a grimacing smile may be observed.
Intellectual disability-facial dysmorphism-hand anomalies syndrome
Spondyloepimetaphyseal dysplasia, Isidor type is rare primary bone dysplasia disorder characterized by normal birth length with early postnatal growth deficiency resulting in severe disproportionate short stature (with short trunk and limbs), severe genum varum, flexion contractures in the hips and lumbar hyperlordosis. Radiological findings reveal platyspondyly with central indentation of vertebral endplates, progressive and severe epimetaphyseal abnormalities that primarily affect the lower limbs and include very small, irregular proximal femoral and knee epiphyses, severe coxa vara, delayed ossification of proximal femoral epiphyses, and irregular distal femoral and proximal tibial metaphyses.
Spondyloepimetaphyseal dysplasia, Isidor type
Spondylometaphyseal dysplasia, Czarny-Ratajczak type is a rare primary bone dysplasia disorder characterized by short stature with severe shortening of limbs, genu vara deformity and enlarged joints with movement limitation particularly affecting the hip joints. Radiological findings show coxa vara, generalized metaphyseal irregularities of the tubular bones (including cupping, fraying and splaying) which is more severe in the femur and forearm bones than the metacarpals and phalanges, and vertebral abnormalities including ovoid vertebral bodies with anterior rectangular protrusions, and severe platyspondyly.
Spondylometaphyseal dysplasia, Czarny-Ratajczak type
Poretti-Boltshauser syndrome
Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome is a rare neuro-ophthalmological disease characterized by nonprogressive cerebellar ataxia, delayed motor and language development and intellectual disability, in addition to ophthalmological abnormalities (e.g. oculomotor apraxia, strabismus, amblyopia, retinal dystrophy and myopia). Cerebellar cysts, cerebellar dysplasia and cerebellar vermis hypoplasia, seen on magnetic resonance imaging, are also characteristic of the disease.
Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome
AML with t(8;16)(p11;p13) translocation
or in therapy-related AML cases, and is characterized by frequent extramedullary involvement (mainly hepatomegaly, splenomegaly, lymphadenopathies, cutaneous infiltration, but also gum, bone, central nervous system, testicles involvement), severe coagulation disorder (disseminated intravascular coagulopathy or primary fibrinolysis) and poor prognosis. Morphologically, a blast population with a myelomonocytic stage of differentiation is observed.
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Familial syringomyelia
Schauder syndrome
Angora hair nevus is rare nevus disorder characterized by the presence of epidermal nevi consisting of depigmented hypertrichosis manifesting with long, soft, white hair which grows from dilated follicles and follows Blaschko's lines, typically located on the scalp, neck, face, trunk and/or limbs. Association with hyperpigmented, hyperkeratotic linear epidermal nevi, macrocephaly, body asymmetry, sacral pit and koilonychia, as well as skeletal, ocular, and neurological abnormalities, has also been reported.
Angora hair nevus
Aplasia cutis congenita-nevus sebaceus syndrome
Didymosis aplasticosebacea is a rare skin disorder characterized by the co-ocurrence of sebaceous nevi with aplasia cutis congenita located directly adjacent or in close proximity and ocular abnormalities including limbal dermoids and coloboma of the conjunctiva.
Didymosis aplasticosebacea
Sebaceous nevus-CNS malformations-aplasia cutis congenital-limbal dermoid-pigmented nevus syndrome
Sebaceous nevus-central nervous system malformations-aplasia cutis congenital-limbal dermoid-pigmented nevus syndrome
SCALP syndrome is a rare skin disease characterized by the association of sebaceous nevus and aplasia cutis congenita (usually on the scalp and face) in conjunction with limbal dermoid of the eye, a giant congenital melanocytic nevus and variable central nervous system abnormalities, including seizures, hydrocephalus, neurocutaneous melanosis, arachnoid cysts, and diffuse unilateral hemishpere enlargement.
SCALP syndrome
Nevus epidermicus verrucosus with angiodysplasia and aneurysms
NEVADA (Nevus Epidermicus Verrucosus with AngioDysplasia and Aneurysms) syndrome is a rare, life-threatening, cutaneous disease characterized by a keratinocytic epidermal nevus presenting thick, hystrix-like, white or brownish hyperkeratosis associated with multiple extracutaneous vascular malformations, including angiodysplasia that involves large-vessel arteriovenous shunts that may be fatal during the neonatal period.
NEVADA syndrome
ALS19
HER4
human epidermal growth factor receptor 4
erb-b2 receptor tyrosine kinase 4
FACS
Fetal AEDS
Fetal antiepileptic drug syndrome
Fetal anticonvulsant syndrome
exposure to carbamazepine, in combination with valproate, has been associated with significant developmental delay (particularly affecting verbal intelligence) and a high rate of congenital anomalies.
Fetal carbamazepine syndrome
Proximal dup(16)(p11.2)
Proximal trisomy 16p11.2
Proximal 16p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 characterized by developmental delay and intellectual disability of a highly variable degree, autism spectrum, obsessive-compulsive, attention deficit hyperactivity disorder, speech articulation abnormalities, muscular hypotonia, tremor, hyper- or hyporeflexia, seizures, microcephaly, neuroimaging abnormalities, decreased body mass index and schizophrenia or bipolar disorder later on in life.
Proximal 16p11.2 microduplication syndrome
Acute infantile liver failure-multisystemic involvement syndrome is a rare, genetic, parenchymal hepatic disease characterized by acute liver failure, that occurs in the first year of life, which manifests with failure to thrive, hypotonia, moderate global developmental delay, seizures, abnormal liver function tests, microcytic anemia and elevated serum lactate. Other associated features include hepatosteatosis and fibrosis, abnormal brain morphology, and renal tubulopathy. Minor illness exacerbates deterioration of liver failure.
Acute infantile liver failure-multisystemic involvement syndrome
OCA5
Oculocutaneous albinism type 5 (OCA5) is a type of oculocutaneous albinism found in one Pakistani family to date, characterized by white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity, that affects males and females equally, and that has been mapped to a locus on chromosome 4q24 but whose gene has not yet been discovered.
Oculocutaneous albinism type 5
OCA6
gene (15q21.1).
Oculocutaneous albinism type 6
Primary dystonia, DYT17 type is a rare, genetic, isolated dystonia initially presenting as torticollis, and later progressing to segmental or generalized dystonia. Dysphonia and dysarthria also occur later in the disease course.
Primary dystonia, DYT17 type
Rare disorder with dystonia and other neurologic or systemic manifestation
v-AT
Ataxia-telangiectasia variant is a rare, genetic, persistent combined dystonia characterized by clinical signs similar to ataxia-telangiectasia but with a later (usually adulthood) onset and slower progression. Patients typically present extrapyramidal signs, such as resting tremor, choreathetosis, and dystonia, as the initial symptoms and later often develop mild cerebellar ataxia (with gait usually preserved). Telangiectasia and immunodeficiency may be absent but secondary features of ataxia-telangiectasia, such as risk of malignancy, dysarthria and peripheral neuropathy, are frequently present.
Ataxia-telangiectasia variant
Combined cervical dystonia
Medich macrothrombocytopenia
Medich giant platelet syndrome (MGPS) is a platelet granule disorder characterized by thrombocytopenia with giant platelets resulting in easy bleeding.
Medich giant platelet syndrome
White platelet syndrome (WPS) is is a platelet granule disorder characterized by thrombocytopenia, increased mean platelet volumes, decreased platelet responsiveness to aggregating agents, and significant defects in platelet ultrastructural morphology leading to prolonged bleeding times and bleeding.
White platelet syndrome
ER membrane associated RNA degradation
EOE
Extraosseous Ewing sarcoma
Extraosseous Ewing tumor
Extraskeletal Ewing tumor
Extraskeletal Ewing sarcoma is a rare, poorly differentiated, highly malignant, soft tissue tumor, derived from neuroectoderm, that is morphologically indistinguishable from skeletal Ewing sarcoma but is located in extraosseous locations, with the most common being: chest wall, paravertebral region, abdominopelvic area (with predilection for the retroperitoneal space), gluteal region and lower extremities. Clinical presentation is highly variable and depends on tumor localization. Local recurrence is common and metastatic disease most frequently involves the bones and lungs.
Extraskeletal Ewing sarcoma
PPNET
Peripheral PNET
Peripheral primitive neuroectodermal tumor
ACT1
CIKS
TRAF3 interacting protein 2
SCCO
Small cell ovarian carcinoma
Small cell carcinoma of the ovary is a rare, highly aggressive, poorly differentiated ovarian neoplasm, often associated with paraneoplastic hypercalcemia. It is usually diagnosed in childhood or young adulthood at an advanced stage and presents with abdominal or pelvic mass or, rarely, symptoms related to hypercalcemia. Occasional familial cases have been reported.
Small cell carcinoma of the ovary
EEF-2
Polypeptidyl-tRNA translocase
eukaryotic translation elongation factor 2
TAZ-1
zinc finger and BTB domain containing 18
Autoimmune enteropathy type 1
IPEX
Immunodysregulation - polyendocrinopathy - enteropathy - X-linked (IPEX) syndrome is a severe congenital systemic autoimmune disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections.
Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
CDG syndrome type Iw
CDG-Iw
CDG1W
Congenital disorder of glycosylation type 1w
Congenital disorder of glycosylation type Iw
STT3A-CDG
CDG syndrome type Ix
CDG-Ix
CDG1X
Carbohydrate deficient glycoprotein syndrome type Ix
Congenital disorder of glycosylation type 1x
Congenital disorder of glycosylation type Ix
STT3B-CDG
CDG syndrome type Iy
CDG-Iy
CDG1Y
Carbohydrate deficient glycoprotein syndrome type Iy
Congenital disorder of glycosylation type 1y
Congenital disorder of glycosylation type Iy
SSR4-CDG
XYLT1-CDG is a rare congenital disorder of glycosylation characterized by moderate intellectual disability, short stature, mild skeletal changes and distinctive facial features with coarse face, synophyrs and deep nasolabial ridges. Skeletal features include broad ribs, stocky long bones, short femoral necks with coxa valga, clinodactyly and broad thumbs.
XYLT1-CDG
ST3GAL5-CDG
GM3 synthase deficiency is a rare congenital disorder of glycosylation due to impaired synthesis of complex ganglioside species initially characterized by irritability, poor feeding, failure to thrive and early-onset refractory epilepsy, followed by postnatal growth impairment, severe developmental delay or developmental regression, profound intellectual disability, deafness and abnormalities of skin pigmentation (mostly freckle-like hyperpigmented and depigmented macules). Visual impairment due to cortical atrophy (visible on magnetic resonance imaging), choreoathetosis and hypotonic tetraparesis usually appear gradually. Dysmorphic facial features may be associated.
GM3 synthase deficiency
Salt-and-pepper syndrome
SLC35A3-CDG
Autism spectrum disorder-epilepsy-arthrogryposis syndrome
CMD due to dystroglycanopathy
Congenital muscular dystrophy due to dystroglycanopathy
CMD with cerebellar involvement
CMD-CRB
Congenital muscular dystrophy with cerebellar involvement is a rare, congenital muscular dystrophy due to dystroglycanopathy characterized by proximal muscule weakness with a tendency for muscle hypertrophy and pseudohypertrophy, variable cognitive impairment, microcephaly, cerebellar hypoplasia with or without cysts, and other structural brain anomalies.
Congenital muscular dystrophy with cerebellar involvement
CMD with intellectual disability
CMD-MR
Congenital muscular dystrophy with intellectual disability is a rare, genetic, congenital muscular dystrophy due to dystroglycanopathy disorder characterized by a wide phenotypic spectrum which includes hypotonia and muscular weakness present at birth or early infancy and delayed or arrested motor development, associated with mild to severe intellectual disability and variable brain abnormalities on neuroimaging studies. Feeding difficulties, joint and spinal deformities, respiratory insufficiency, and ocular anomalies (e.g. strabismus, retinal dystrophy, oculomotor apraxia) may be associated. Decreased or absent alpha-dystroglycan on immunohistochemical muscle staining and elevated serum creatine kinase are observed.
Congenital muscular dystrophy with intellectual disability
CMD without intellectual disability
CMD-no MR
Congenital muscular dystrophy-dystroglycanopathy without intellectual disability
Congenital muscular dystrophy without intellectual disability is a rare, genetic, congenital muscular dystrophy due to dystroglycanopathy disorder characterized by a wide phenotypic spectrum which includes hypotonia and muscular weakness present at birth or early infancy, delayed or arrested motor development, and normal intellectual abilities with normal (or only mild abnormalities) neuroimaging studies. Feeding difficulties, joint and spinal deformities, and respiratory insufficiency may be associated. Decreased alpha-dystroglycan on immunohistochemical muscle staining and elevated serum creatine kinase are observed.
Congenital muscular dystrophy without intellectual disability
MEB disease with bilateral multicystic leucodystrophy
Muscle-eye-brain (MEB) disease with bilateral multicystic leucodystrophy is a form of congenital muscular alpha-dystroglycanopathy with brain and eye anomaly characterized by severe muscle-eye-brain disease-like phenotype associated with macrocephaly and extended bilateral multicystic white matter disease, overlapping with the cerebral findings in patients with megalencephalic leukoencephalopathy with subcortical cysts.
Muscle-eye-brain disease with bilateral multicystic leucodystrophy
GSD due to muscle phosphofructokinase deficiency
GSD type 7
GSD type VII
Glycogen storage disease type 7
Glycogen storage disease type VII
Glycogenosis due to muscle phosphofructokinase deficiency
Glycogenosis type 7
Glycogenosis type VII
Tarui disease
Muscle phosphofructokinase (PFK) deficiency (Tarui's disease), or glycogen storage disease type 7 (GSD7), is a rare form of glycogen storage disease characterized by exertional fatigue and muscular exercise intolerance. It occurs in childhood.
Glycogen storage disease due to muscle phosphofructokinase deficiency
CMDH
Congenital muscular dystrophy with hyperlaxity is a rare, genetic neuromuscular disease characterized by congenital hypotonia, generalized, slowly progressive muscular weakness, and proximal joint contractures with distal joint hypermobility and hyperlaxity. Scoliosis or rigidity of the spine and delayed motor milestones are also frequently reported. Other manifestations include a long myopathic face and, in rare cases, respiratory failure, mild to moderate intellectual deficiency and short stature. Ambulation may be impaired with time.
Congenital muscular dystrophy with hyperlaxity
Alpha-dystroglycanopathy
Dystroglycanopathy
Qualitative or quantitative defects of alpha-dystroglycan
Primary alpha-dystroglycanopathy
Primary dystroglycanopathy
Primary qualitative or quantitative defects of alpha-dystroglycan
CDG with neurological involvement
Congenital disorder of glycosylation with neurological involvement
X-linked CDG with intellectual disability as a major feature
X-linked congenital disorder of glycosylation with intellectual disability as a major feature
Non-X-linked CDG with intellectual disability as a major feature
Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature
CDG with epilepsy as a major feature
Congenital disorder of glycosylation with epilepsy as a major feature
CALM
CLTH
phosphatidylinositol binding clathrin assembly protein
CDG with hepatic involvement
Congenital disorder of glycosylation with hepatic involvement
solute carrier family 35 member A3
LYT-10
NF-kB2
p52
nuclear factor kappa B subunit 2
CDG with dilated cardiomyopathy
Congenital disorder of glycosylation with dilated cardiomyopathy
CDG with cardiac malformation as a major feature
Congenital disorder of glycosylation with cardiac malformation as a major feature
CDG with intestinal involvement
Congenital disorder of glycosylation with intestinal involvement
CDG-related bone disorder
Congenital disorder of glycosylation-related bone disorder
CDG with skin involvement
Congenital disorder of glycosylation with skin involvement
CDG with nephropathy as a major feature
Congenital disorder of glycosylation with nephropathy as a major feature
CDG with deafness as a major feature
Congenital disorder of glycosylation with deafness as a major feature
BBS20
NPHP17
SLB
osm-1
wim
wimple homolog
intraflagellar transport 172
CDG with developmental anomaly
Congenital disorder of glycosylation with developmental anomaly
ACC-4
ACC-5
ACC4
ACC5
cathepsin H
P2Y11
purinergic receptor P2Y11
KIAA0844
Talanin
UAN
zinc finger protein 365
HPC-1
syntaxin 1A
GPI transamidase subunit
phosphatidylinositol glycan anchor biosynthesis class T
IHPRF syndrome
Infantile hypotonia-psychomotor retardation-characteristic facies syndrome
Hypotonia-speech impairment-severe cognitive delay syndrome is a rare, genetic neurodegenerative disorder characterized by severe, persistent hypotonia (presenting at birth or in early infancy), severe global developmental delay (with poor or absent speech, difficulty or inability to roll, sit or walk), profound intellectual disability, and failure to thrive. Additional manifestations include microcephaly, progressive peripheral spasticity, bilateral strabismus and nystagmus, constipation, and variable dysmorphic facial features (including plagiocephaly, broad forehead, small nose, low-set ears, micrognathia and open mouth with tented upper lip).
Hypotonia-speech impairment-severe cognitive delay syndrome
MONA spectrum
Multicentric osteolysis-nodulosis-arthropathy (MONA) spectrum is a rare genetic chronic skeletal disorder characterized by peripheral osteolysis (especially carpal and tarsal bones), interphalangeal joint erosions, subcutaneous fibrocollagenous nodules, facial dysmorphism, and a wide range of associated manifestations.
Multicentric osteolysis-nodulosis-arthropathy spectrum
Genetic periodic paralysis
Genetic neurovascular malformation
OBSOLETE: Genetic cerebrovascular dementia
Sphingolipidosis with epilepsy
Genetic syndromic esophageal malformation
TS complex subunit 3
TBC1 domain family member 7
JSX
oculocutaneous albinism 6 (autosomal recessive)
solute carrier family 24 member 5
Genetic hyperaldosteronism
DIC5
FAP133
WD repeat domain 34
MEGSIN
serpin family B member 7
CDHR6
FIB1
KIAA1773
cadherin-related family member 6
dachsous cadherin-related 1
CDHF14
CDHR11
FAT-J
cadherin-related family member 11
FAT atypical cadherin 4
Bladder pain syndrome
IC/BPS
IC/PBS
Interstitial cystitis/bladder pain syndrome
Interstitial cystitis/painful bladder syndrome
Painful bladder syndrome
Interstitial cystitis, also known as bladder pain syndrome (IC/BPS), is a rare chronic debilitating urogenital disease characterized by urinary frequency, urgency, and pelvic pain.
Interstitial cystitis
Golabi-Rosen syndrome
SDYS
Simpson dysmorphia syndrome
Simpson-Golabi-Behmel syndrome type 1
X-linked dysplasia gigantism syndrome
Simpson-Golabi-Behmel syndrome (SGBS, also referred to as SGBS type 1) is a rare X-linked multiple congenital anomalies syndrome, characterized by pre- and postnatal overgrowth, distinctive craniofacial features, variable congenital malformations, organomegaly and an increased tumor risk.
Simpson-Golabi-Behmel syndrome
Expanded spectrum hemifacial microsomia
Facioauriculovertebral dysplasia
OAV dysplasia
OAVS
Oculoauriculovertebral dysplasia
Oculoauriculovertebral syndrome
Goldenhar syndrome (GS), also known as oculo-auriculo-vertebral dysplasia (OAV), is a rare developmental syndrome characterized by a classic triad of mandibular hypoplasia resulting in facial asymmetry, ear and/or eye malformations, and vertebral anomalies.
Goldenhar syndrome
Anti-GBM syndrome
Goodpasture syndrome
Anti-glomerular basement membrane (anti-GBM) disease is a rapidly progressive and generally fulminant rare autoimmune condition characterized by the presence of anti-GBM antibodies, affecting glomerular and/or pulmonary capillaries. It may manifest as an isolated glomerulonephritis (anti-GBM nephritis) or as a pulmonary-renal syndrome with severe lung hemorrhage (Goodpasture's syndrome).
Anti-glomerular basement membrane disease
Andersen cardiodysrhythmic periodic paralysis
Andersen syndrome
Andersen-Tawil syndrome
Long QT syndrome type 7
Andersen's syndrome (AS) is a rare disorder characterized by periodic muscle paralysis, prolongation of the QT interval with a variety of ventricular arrhythmias (leading to predisposition to sudden cardiac death) and characteristic physical features: short stature, scoliosis, low-set ears, hypertelorism, broad nasal root, micrognathia, clinodactyly, brachydactyly and syndactyly.
Cardiodysrhythmic potassium-sensitive periodic paralysis
Acquired progressive kinking of the hair (APKH) is a rare hair disorder characterized by the appearance of lustreless, curly, frizzy, and coarse hair generally during adolescence predominantly in the frontal, temporal, and vertex regions of the scalp. Eyelashes, as well as growth and pigmentation of the hair, may also be affected.
Acquired kinky hair syndrome
BGCAN
betaglycan
betaglycan proteoglycan
transforming growth factor beta receptor 3
Camptodactyly-cleft palate-clubfoot syndrome
Distal arthrogryposis type 3
Distal arthrogryposis type IIA
Gordon syndrome, also known as distal arthrogryposis type 3, is an extremely rare multiple congenital malformation syndrome characterized by congenital contractures of hand and feet with variable degrees of severity of camptodactyly, clubfoot and, less frequently, cleft palate. Intelligence is normal but in some cases, additional abnormalities, such as short stature, kyphoscoliosis, ptosis, micrognathia, and cryptorchidism may also be present. Gordon syndrome, Marden-Walker syndrome and arthrogryposis with oculomotor limitation and electroretinal anomalies clinically and genetically overlap, and could represent variable expressions of the same condition.
Gordon syndrome
Episodic ataxia with myokymia
Episodic ataxia type 1 (EA1) is a frequent form of Hereditary episodic ataxia (EA; see this term) characterized by brief episodes of ataxia, neuromyotonia, and continuous interictal myokymia.
Episodic ataxia type 1
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_42738 with label: Severe congenital neutropenia
foie gras homolog (zebrafish)
foigr
gry
gryzun homolog (Drosophila)
trafficking protein particle complex 11
h-vps45
vacuolar protein sorting 45 homolog
SZT2A
SZT2B
seizure threshold 2 homolog A (mouse)
seizure threshold 2 homolog B (mouse)
SZT2, KICSTOR complex subunit
FBL4
FBL5
F-box and leucine rich repeat protein 4
ZNHIT5
DEAD-box helicase 59
GP147
IPM150
interphotoreceptor matrix proteoglycan 1
AMPD isoform L
SPG63
adenosine monophosphate deaminase 2
6C6-Ag
BAP31
CDM
DXS1357E
B cell receptor associated protein 31
ADAM metallopeptidase with thrombospondin type 1 motif 18
KIAA0307
bHLHe1
aryl hydrocarbon receptor nuclear translocator 2
MOZ
Monocytic leukemia zinc finger protein
ZC2HC6A
lysine acetyltransferase 6A
paired box 1
coenzyme Q8B
EC45
L15
RPL10
RPLY10
RPYL10
ribosomal protein L15
Generalized isolated dystonia
CanIon
sodium leak channel, non-selective
HSPC192
LARS1
LEUS
RNTLS
leucine tRNA ligase 1, cytoplasmic
leucyl-tRNA synthetase
CMT2U
MetRS
SPG70
methionine tRNA ligase 1, cytoplasmic
methionyl-tRNA synthetase
ISWI
hISWI
hSNF2H
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5
VRP
vascular endothelial growth factor-related protein
vascular endothelial growth factor C
PXYLT1
XT-I
protein xylosyltransferase 1
xylosyltransferase 1
TBC1 domain family member 20
CANP
family with sequence similarity 111 member B
ET1
endothelin 1
Krp1
SARCOSIN
sarcomeric muscle protein
kelch like family member 41
Basal cell nevus syndrome
Gorlin-Goltz syndrome
NBCCS
Nevoid basal cell carcinoma syndrome
Gorlin syndrome (GS) is a genodermatosis characterized by multiple early-onset basal cell carcinoma (BCC), odontogenic keratocysts and skeletal abnormalities.
Gorlin syndrome
PLSTIRE
cyclin dependent kinase 6
Very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 1
cementum attachment protein
3-hydroxyacyl-CoA dehydratase 1
TRAPD
translocon-associated protein delta
signal sequence receptor subunit 4
KIAA0620
plexin D1
Chronic urticaria with gammopathy
Chronic urticaria with macroglobulinemia
Schnitzler syndrome is a rare, underdiagnosed disorder in adults characterized by recurrent febrile rash, bone and/or joint pain, enlarged lymph nodes, fatigue, a monoclonal IgM component, leukocytosis and systemic inflammatory response.
Schnitzler syndrome
MZM1L
LYR motif containing 7
PIP5KIIA
PIP5KIIalpha
phosphatidylinositol-5-phosphate 4-kinase type 2 alpha
BN-1
CD196
CKR-L3
CMKBR6
DCR2
DRY-6
GPR-CY4
GPR29
C-C motif chemokine receptor 6
MGC9042
STT3-A
TMC
dolichyl-diphosphooligosaccharide protein glycotransferase
STT3A, catalytic subunit of the oligosaccharyltransferase complex
SIMP
STT3-B
source of immunodominant MHC associated peptides
STT3B, catalytic subunit of the oligosaccharyltransferase complex
GDP-mannose pyrophosphorylase A
CDA016
CGI-39
GRIM-19
GRIM19
complex I B16.6 subunit
NADH:ubiquinone oxidoreductase subunit A13
ATP11
Atp11p
ATP synthase mitochondrial F1 complex assembly factor 1
Clinical entity defined by a set of phenotypic abnormalities resulting from a common physiopathological mechanism with a homogeneous evolution and homogeneous therapeutic possibilities. Excludes developmental anomalies.
disease
Clinical entity defined by a set of morphological abnormalities resulting from a developmental anomaly involving more than one morphogenetic field. Includes sequences and associations.
malformation syndrome
Clinical entity defined by a set of physiological abnormalities without clear associated clinical manifestations.
biological anomaly
Clinical entity defined by an alteration of the normal morphology resulting from a development anomaly involving a single morphogenetic field.
morphological anomaly
Clinical entity defined by a set of phenotypic abnormalities with a homogeneous evolution and homogeneous therapeutic possibilities, regardless of the physiopathological mechanism.
clinical syndrome
Clinical entity defined by a set of phenotypic abnormalities occurring in particular circumstances.
particular clinical situation in a disease or syndrome
Clinical entity defined by a set of phenotypic abnormalities shared by several diseases, malformation or clinical syndromes, morphological or biological anomalies, and particular clinical situations in a disease or a syndrome and used to group them together.
group of disorders
Subdivision of a disease, malformation syndrome, morphological anomaly, biological anomaly or particular clinical situation in a disease or a syndrome further defined by its aetiology.
etiological subtype
Subdivision of a disease, malformation syndrome, morphological anomaly, biological anomaly, clinical syndrome or particular clinical situation in a disease or a syndrome further defined by its particular clinical presentation.
clinical subtype
Subdivision of a disease, malformation syndrome, morphological anomaly, biological anomaly, clinical syndrome or particular clinical situation in a disease defined by the histological abnormalities in affected tissues.
histopathological subtype
CGD
Chronic septic granulomatosis
Chronic granulomatous disease (CGD) is a rare primary immunodeficiency, mainly affecting phagocytes, which is characterized by an increased susceptibility to severe and recurrent bacterial and fungal infections, along with the development of granulomas.
Chronic granulomatous disease
AKE
PPKP3
Punctate palmoplantar hyperkeratosis type 3
Punctate palmoplantar keratoderma type 3
Acrokeratoelastoidosis of Costa is a rare dermatosis characterized by small, firm papules or plaques (resembling warts) on the sides of the hands and feet. These stationary and asymptomatic lesions appear generally at puberty, or sometimes later
Acrokeratoelastoidosis of Costa
GCPS
Greig cephalopolysyndactyly syndrome (GCPS) is a pleiotropic, multiple congenital anomaly syndrome.
Greig cephalopolysyndactyly syndrome
Chédiak-Higashi-like syndrome
Griscelli-Pruniéras syndrome
Partial albinism-immunodeficiency syndrome
Griscelli syndrome (GS) is characterised by silvery gray sheen of the hair and hypopigmentation of the skin which can be associated to neurological impairment (type 1), immunodeficiency (type 2) or be isolated (type 3).
Griscelli syndrome
GAMT deficiency
Guanidinoacetate methyltransferase (GAMT) deficiency is a creatine deficiency syndrome characterized by global developmental delay/intellectual disability (DD/ID), prominent speech delay, autistic/hyperactive behavioral disorders, seizures, and various types of pyramidal and/or extra-pyramidal manifestations.
Guanidinoacetate methyltransferase deficiency
Conductive deafness with stapes fixation
Nance deafness
X-linked deafness type 2
X-linked mixed conductive and neurosensory deafness
X-linked mixed conductive and neurosensory hearing loss
X-linked mixed conductive and sensorineural deafness
X-linked mixed conductive and sensorineural hearing loss
X-linked stapes gusher syndrome
X-linked mixed deafness with perilymphatic gusher, also known as X-linked deafness type 2, is a rare form of non-syndromic genetic deafness affecting males and characterized by pathognomonic inner ear anomalies and conductive and profound sensorineural hearing loss. The inner ear anomalies are described as dilatation of the internal auditory meatus and fistulous connection between the cochlear basal turn and internal auditory canal resulting in perilympatic gusher on attempted mobilization of a fixed stapes. Obligate female carriers may suffer from mild to moderate hearing loss.
X-linked mixed deafness with perilymphatic gusher
Huriez syndrome
Palmoplantar hyperkeratosis-sclerodactyly syndrome
Scleroatrophic syndrome
Sclerotylosis
Palmoplantar keratoderma-sclerodactyly syndrome
NBIA
Neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome) encompasses a group of rare neurodegenerative disorders characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system.
Neurodegeneration with brain iron accumulation
Biliary hamartoma
MHL
Mesenchymal hamartoma of liver
VMC
Von Meyenburg complexes disease
Hepatic cystic hamartoma, also named Mesenchyma hamartoma of liver, is a rare benign liver tumor of childhood, usually before the age of 2, of mesenchymal origin and variable clinical presentation (abdominal dissension, abdominal mass, pain, vomiting and signs of inferior vena cava compression).
Hepatic cystic hamartoma
Aganglionic megacolon
Congenital intestinal aganglionosis
HSCR
Hirschsprung disease (HSCR) is a congenital intestinal motility disorder that is characterized by signs of intestinal obstruction due to the presence of an aganglionic segment of variable extent in the terminal part of the colon.
Hirschsprung disease
Dihydropyrimidinase deficiency
Dihydropyrimidinase (DPD) deficiency is a very rare pyrimidine metabolism disorder with a variable clinical presentation including gastrointestinal manifestations (feeding problems, cyclic vomiting, gastroesophageal reflux, malabsorption with villous atrophy), hypotonia, intellectual deficit, seizures, and less frequently growth retardation, failure to thrive, microcephaly and autism. Asymptomatic cases are also reported. DPD deficiency increases the risk of 5-FU toxicity.
Dihydropyrimidinuria
Histiocytosis X
Langerhans cell granulomatosis
Langerhans cell histiocytosis (LCH) is a systemic disease associated with the proliferation and accumulation (usually in granulomas) of Langerhans cells in various tissues.
Langerhans cell histiocytosis
Acromelanosis is a congenital hyperpigmentation of the skin usually located on the acral areas of the fingers and toes. It is mostly observed in newborns or during the first years of life.
Acromelanosis
Darling disease
Histoplasmosis
Combined immunodeficiency with hypereosinophilia
Omenn syndrome (OS) is an inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID; see this term).
Omenn syndrome
Choroidal melanoma
Iris melanoma
Uveal melanoma is a rare tumor of the eye, arising from the choroid in 90% of cases and from the iris and ciliary body in the other 10% of cases, which clinically presents with visual symptoms (including blurred vision, photopsia, floaters, and visual field reduction), a visible mass and pain. Fatal metastatic disease is seen in about half of all patients, with the liver being the most frequent site of metastasis.
Uveal melanoma
CSPP
JBTS21
centrosome and spindle pole associated protein 1
BBIP10
BBS18
BBSome interacting protein 1
EIF4AIII
Fal1
KIAA0111
eukaryotic translation initiation factor 4A3
SOM
grainyhead like transcription factor 3
VR22
alpha-T-catenin
catenin alpha 3
ZNF163B
growth factor independent 1B transcriptional repressor
Classic Hodgkin disease
Classical Hodgkin lymphoma (CHL) is a B-cell lymphoma characterized histologically by the presence of large mononuclear Hodgkin cells and multinucleated Reed-Sternberg (HRS) cells.
Classic Hodgkin lymphoma
protein Z, vitamin K dependent plasma glycoprotein
Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by severe intellectual disability with limited or absent speech and language, short stature, acquired microcephaly, kyphoscoliosis or scoliosis, and behavioral disturbances that include hyperactivity, stereotypy and aggressiveness. Facial dysmorphism, that typically includes sloping forehead, mild synophrys, deep-set eyes, strabismus, anteverted large ears, prominent nose and dental malposition, is also characteristic.
Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome
STAT1 deficiency
Susceptibility to viral and mycobacterial infections is a rare, genetic, primary immunodeficiency due to a defect in innate immunity disorder characterized by impaired intracellular signaling from both type I and type II interferons, leading to early-onset, severe, life-threatening intracellular bacterial (typically mycobacteria) and viral (mainly herpes viruses) infections.
Susceptibility to viral and mycobacterial infections
Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression is a rare monogenic disease with infantile-onset pharmacoresistant focal seizures of mesial temporal lobe onset manifesting with unresponsiveness, hypertonia and automatisms and cognitive regression soon after seizure onset leading to severe intellectual disability with behavioral abnormalities.
Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression
East Texas bleeding disorder is a rare, genetic, coagulation disorder characterized by easy bruising (without hemarthrosis or spontaneous hematomas), epistaxis, menorrhagia, and excessive bleeding after minor trauma and surgical procedures. Patients present a prolonged prothrombin time and/or activated partial thromboplastin time, normal levels of all coagulation factors, and normal protein C activity.
East Texas bleeding disorder
X-linked calvarial hyperostosis is a rare, genetic, primary bone dysplasia with increased bone density disorder characterized by benign, isolated, calvarial thickening, presenting with prominent frontoparietal bones, a high forehead with ridging of the metopic and sagittal sutures, lateral frontal prominences, and facial dysmorphism comprising a flat nasal root and short, upturned nose. Increased intracranial pressure and cranial nerve entrapment are not associated. There have been no further descriptions in the literature since 1986.
X-linked calvarial hyperostosis
X-linked osteoporosis with fractures is a rare, genetic, primary bone dysplasia with decreased bone density disorder characterized by childhood-onset osteoporosis associated with recurrent, multiple, osteoporotic, long bone fractures and/or vertebral compression fractures, significant height loss in adulthood, low bone mineral density scores, and otherwise no other abnormalities. Heterozygote females may be unaffected or have a milder phenotype.
X-linked osteoporosis with fractures
hexabrachion (tenascin)
tenascin C
Fatal post-viral neurodegenerative disorder is a rare neuroinflammatory disease characterized by the onset of ataxia, dysarthia and cerebral white matter changes which are triggered by viral infection. Episodic progressive neurodegeneration (manifesting with loss of motor and verbal skills, muscle weakness, further cerebral white matter degeneration and, eventually, death) is observed in the absence of hematopathology, cytokine overproduction, fever, hypertrigliceridemia, hypofibrinogenemia and hyperferritinemia.
Fatal post-viral neurodegenerative disorder
Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome is a rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by intrauterine growth retardation, microcephaly, hypotonia, vision impairment, speech and language delay and lactic acidosis with reduced respiratory chain activity (typically complex I). Additonal features may include macrocytic anemia, tremor, muscular atrophy, dysmetria and mild intellectual disability.
Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
CMT4K
Charcot-Marie-Tooth disease type 4K
SURF1-related CMT4
SURF1-related severe demyelinating Charcot-Marie-Tooth disease
SURF1-related Charcot-Marie-Tooth disease type 4 is a subtype of Charcot-Marie-Tooth disease type 4 characterized by childhood onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy of hands and feet, distal sensory impairment (vibration and pinprick) of lower limbs, lactic acidosis, areflexia and severely reduced motor nerve conduction velocities (25 m/s or less). Patients may also present kyphoscoliosis, nystagmus, hearing loss, cerebellar ataxia and/or brain MRI abnormalities (putaminal and periaqueductal lesions).
SURF1-related Charcot-Marie-Tooth disease type 4
Growth retardation-mild developmental delay-chronic hepatitis syndrome is a rare, genetic, parenchymatous liver disease characterized by pre- and postnatal growth retardation, mild global developmental delay, chronic hepatitis with hepatosplenomegaly, Hashimoto thyroiditis, thrombocytopenia, anemia, and B-precursor acute lymphoblastic leukemia.
Growth retardation-mild developmental delay-chronic hepatitis syndrome
FOXP1 syndrome
Intellectual disability-severe speech delay-mild dysmorphism syndrome is a rare, genetic, syndromic intellectual disability disorder, with highly variable phenotype, typically characterized by mild to severe global development delay, severe speech and language impairment, mild to severe intellectual disability, dysphagia, hypotonia, relative to true macrocephaly, and behavioral problems that may include autistic features, hyperactivity, and mood lability. Facial gestalt typically features a broad, prominent forehead, hypertelorism, downslanting palpebral fissures, ptosis, a short bulbous nose with broad tip, thick vermilion border, wide, and open mouth with downturned corners. Brain, cardiac, urogenital and ocular malformations may be associated.
Intellectual disability-severe speech delay-mild dysmorphism syndrome
Asparagine synthetase deficiency
Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome is a rare, genetic, neurometabolic disorder characterized by severe, progressive microcephaly, severe to profound global development delay, intellectual disability, seizures (typically tonic and/or myoclonic and frequently intractable), hyperekplexia, and axial hypotonia with appendicular spasticity, as well as hyperreflexia, dyskinetic quadriplegia, and abnormal brain morphology (cerebral atrophy with variable additional features including ventriculomeglay, pons and/or cerebellar hypoplasia, simplified gyral pattern and delayed myelination). Cortical blindness, feeding difficulties and respiratory insufficiency may also be associated.
Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome
Disorder of asparagine metabolism
FEPS
Familial episodic pain syndrome is a rare, genetic, peripheral neuropathy disorder characterized by recurrent, stereotyped, episodic intense pain, ocurring predominantly in either the upper body or lower limbs in several members of a family, which is triggered or exacerbated by fatigue, cold exposure, fasting, weather changes and/or physical stress or exertion and may or may not diminish with age. Sweating and other manifestations, such as tachycardia, breathing difficulties and generalized pallor, may be associated.
Familial episodic pain syndrome
Familial episodic pain syndrome with predominantly upper body involvement is a subtype of familial episodic pain syndrome characterized by episodes of severe debilitating pain mainly affecting shoulders, thorax and arms (occasionally radiating to the abdomen and legs), triggered by fasting, fatigue, cold temperatures or physical exercise, which last for 60-90 min and respond poorly to conventional analgesia. Intense pain episodes are accompanied by dyspnea, tachycardia, sweating, generalized pallor, peribuccal cyanosis, and stiffness of the abdominal wall and are followed by a period of exhaustion and somnolence.
Familial episodic pain syndrome with predominantly upper body involvement
Familial episodic pain syndrome with predominantly lower limb involvement is a subtype of familial episodic pain syndrome characterized by intense, episodic and/or cyclic pain mainly localized in the distal lower limbs (occasionally affecting upper limbs as well) which is triggered/exacerbated by fatigue, cold exposure and/or weather changes and alleviated with anti-inflammatory medication, that has a tendancy to diminish in frequency with age. Episodes usually occur late in the day, last 15-30 min and associate sweating and a cold sensation of affected area.
Familial episodic pain syndrome with predominantly lower limb involvement
CIP with hyperhidrosis and gastrointestinal dysfunction
Congenital insensitivity to pain with hyperhidrosis and gastrointestinal dysfunction
HSAN with hyperhidrosis and gastrointestinal dysfunction
HSAN7
Hereditary sensory and autonomic neuropathy type VII
Hereditary sensory and autonomic neuropathy with hyperhidrosis and gastrointestinal dysfunction
Hereditary sensory and autonomic neuropathy type 7
Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by congenital, persistent microcephaly, low birth weight, short stature, childhood-onset seizures, global development delay, mild intellectual disability, and adolescent or young adult-onset diabetes mellitus. Gait ataxia, skeletal abnormalities, dorsocervical fat pad, and infantile cirrhosis may also be associated. Brain morphology is typically normal, although delayed myelination and hypoplastic brainstem have been reported.
Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
Atypical juvenile parkinsonism (AJP) is a complex form of young-onset Parkinson disease (YOPD; see this term) that manifests with pyramidal signs, eye movement abnormalities, psychiatric manifestations (depression, anxiety, drug-induced psychosis, and impulse control disorders), intellectual disability, and other neurological symptoms (such as ataxia and epilepsy) along with classical parkinsonian symptoms.
Atypical juvenile parkinsonism
2-methyl-3-hydroxybutyric aciduria
2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency
HSD10 deficiency
MHBD deficiency
HSD10 disease is a rare, life-threatening neurometabolic disease characterized by a progressive neurodegenerative course, epilepsy, retinopathy and progressive cardiomyopathy.
HSD10 disease
2-methyl-3-hydroxybutyric aciduria, classic type
2-methyl-3-hydroxybutyric aciduria, infantile type
2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, classic type
2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, infantile type
HSD10 deficiency, classic type
HSD10 deficiency, infantile type
HSD10 disease, classic type
MHBD deficiency, classic type
MHBD deficiency, infantile type
HSD10 disease, infantile type is a clinical subtype of HSD10 disease, a rare neurometabolic disorder. Affected boys may show lethargy, poor feeding and evidence of mitochondrial dysfunction in the newborn period, with subsequent mild developmental delay and abnormal muscle tone. Hallmark of the disease is progressive neurodegeneration and cardiomyopathy, which usually manifests between ages 6 months and 2 years with developmental regression, progressive visual and hearing loss, epilepsy and other neurological symptoms, and severe cardiomyopathy. Laboratory investigations show signs of mitochondrial dysfunction, and increased urinary excretion of specific isoleucine metabolites. The disease is often fatal around 2-4 years of age.
HSD10 disease, infantile type
2-methyl-3-hydroxybutyric aciduria, neonatal type
2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, neonatal type
HSD10 deficiency, neonatal type
MHBD deficiency, neonatal type
HSD10 disease, neonatal type is the most severe form of HSD10 disease, a rare neurometabolic disorder. It is characterized by severe metabolic/lactic acidosis in the neonatal period, little psychomotor development, seizures and severe progressive hypertrophic cardiomyopathy. Hepatic involvement and coagulopathy are rare. The disease is fatal within the first months of life.
HSD10 disease, neonatal type
CTPCT
phosphate cytidylyltransferase 1, choline, alpha
ALX3-related frontonasal dysplasia
Frontonasal dysplasia type 1
Isolated median cleft face syndrome
Frontorhiny is a distinct syndromic type of frontonasal malformation characterized by hypertelorism, wide nasal bridge, broad columella, widened philtrum, widely separated narrow nares, poor development of nasal tip, midline notch of the upper alveolus, columella base swellings and a low hairline. Additional features reported in some include upper eyelid ptosis and midline dermoid cysts of craniofacial structures and philtral pits or rugose folding behind the ears. An autosomal recessive inheritance has been proposed.
Frontorhiny
use http://www.orpha.net/ORDO/Orphanet_250 with label: Frontonasal dysplasia
OBSOLETE: Syndromic frontonasal dysplasia
Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome is an extremely rare, autosomal dominant immunological disorder characterized by variable enteropathy, endocrine disorders (e.g. type 1 diabetes mellitus, hypothyroidism), immune dysregulation with pulmonary and blood-borne bacterial infections, and fungal infections (chronic mucocutaneous candidiasis) developing in infancy. Other manifestations include short stature, eczema, hepatosplenomegaly, delayed puberty, and osteoporosis/osteopenia.
Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
Adult-onset acquired myasthenia
Adult-onset autoimmune myasthenia gravis
Acquired myasthenia gravis (MG) is an autoimmune disorder of the neuromuscular junction characterized by fatigable muscle weakness with frequent ocular signs and/or generalized muscle weakness, and occasionally associated with thymoma (see this term).
Adult-onset myasthenia gravis
Childhood myasthenia gravis
Juvenile acquired myasthenia
Juvenile autoimmune myasthenia gravis
Juvenile myasthenia gravis (MG; see this term) is a rare form of MG, an autoimmune disorder of the neuromuscular junction resulting in ocular manifestations or generalized weakness, with onset before 18 years of age.
Juvenile myasthenia gravis
NMG
Neonatal myasthenia gravis
Transient neonatal acquired myasthenia
Transient neonatal autoimmune myasthenia gravis
Transient neonatal myasthenia gravis (MG) is a rare form of MG (see this term) occurring in neonates born to mothers who have the disorder or specific circulating autoantibodies.
Transient neonatal myasthenia gravis
GCN2
KIAA1338
eukaryotic translation initiation factor 2 alpha kinase 4
KIAA0024
PSS1
PSSA
phosphatidylserine synthase 1
Brunner-Winter syndrome type 1
Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum type 1
FGLDS1
FS1
MMT type 1
MODED syndrome type 1
Microcephaly-digital anomalies-normal intelligence syndrome type 1
Microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 1
Microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome type 1
ODED syndrome type 1
Oculo-digito-esophageal-duodenal syndrome type 1
Feingold syndrome type 1 (FS1) is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies.
Feingold syndrome type 1
Brachydactyly-short stature-microcephaly syndrome
Brunner-Winter syndrome type 2
FGLDS2
FS2
MMT type 2
Microcephaly-digital anomalies-normal intelligence syndrome type 2
Microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 2
Feingold syndrome type 2 (FS2) is a rare inherited malformation syndrome characterized by skeletal abnormalities and mild intellectual disabilities similar to those seen in Feingold syndrome type 1 (FS1; see this term) but that lacks the manifestations of gastrointestinal atresia and short palpebral fissures.
Feingold syndrome type 2
Glomus tumor
use http://www.orpha.net/ORDO/Orphanet_438279 with label: Human infection by orthopoxvirus
HoFH
Homozygous familial hypercholesterolemia
SOPH syndrome
Short stature-optic atrophy-Pelger-Huët anomaly syndrome
CRT
Sicca syndrome antigen A (autoantigen Ro; calreticulin)
autoantigen Ro
cC1qR
calreticulin
Persistent combined dystonia
Appendiceal mucinous adenocarcinoma
Mucinous adenocarcinoma of the appendix is a very rare, slow growing, well-differentiated epithelial neoplasm of the appendix characterized by abundant mucin production. Clinically, it presents as acute appendicitis (with abdominal pain, fever, leukocytosis) or as pseudomyxoma peritonei (wide-spread presence of mucin within the peritoneal cavity), however some patients may be completely asymptomatic at the time of diagnosis. In many cases, a second gastrointestinal malignancy is present.
Mucinous adenocarcinoma of the appendix
Rare genetic dystonic disorder
Rare genetic dystonia
JBTS22
phosphodiesterase 6D
KDELC family like 1
KDELCL1
MDS010
MDSRP
Rumi
hCLP46
protein O-glucosyltransferase 1
PLZF
promyelocytic leukaemia zinc finger
zinc finger and BTB domain containing 16
nuclear mitotic apparatus protein 1
Atriodigital dysplasia type 1
HOS
Heart-hand syndrome type 1
Holt-Oram syndrome (HOS) is the most common form of heart-hand syndrome (see this term) and is characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects.
Holt-Oram syndrome
TELO2 interacting protein 2
ACK
ACK1
activated Cdc42-associated kinase 1
p21cdc42Hs
tyrosine kinase non receptor 2
T-plastin
plastin 3
SLC56A4
sideroflexin 4
atlastin GTPase 3
armadillo repeat containing 5
46,XX testicular DSD
De la Chapelle syndrome
XX, male syndrome
46,XX testicular disorder of sex development (46,XX testicular DSD) is characterized by male external genitalia, ranging from normal to ambiguous with associated testosterone deficiency.
46,XX testicular disorder of sex development
Cystathionine beta-synthase deficiency
Homocystinuria due to cystathionine beta-synthase deficiency
Classical homocystinuria due to cystathionine beta-synthase (CbS) deficiency is characterized by the multiple involvement of the eye, skeleton, central nervous system, and vascular system.
Classic homocystinuria
lipoyltransferase 1
CRF
CRH1
corticoliberin
corticotropin-releasing factor
corticotropin releasing hormone
Glutaric aciduria type 2, severe neonatal type
MAD deficiency, severe neonatal type
MADD, severe neonatal type
Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type
Glutaric aciduria type 2, mild type
MAD deficiency, mild type
MADD, mild type
Multiple acyl-CoA dehydrogenase deficiency, mild type
IDDM20
LNK
lymphocyte adaptor protein
SH2B adaptor protein 3
asparagine synthetase (glutamine-hydrolyzing)
transient receptor potential cation channel subfamily A member 1
TRM10
tRNA methyltransferase 10A
INPP5G
PARK20
inositol polyphosphate-5-phosphatase G
phosphoinositide 5-phosphatase
synaptic inositol 1,4,5-trisphosphate 5-phosphatase 1
synaptojanin 1
FXY2
MRX101
RNF60
TRIM1
midline 2
neuroblastoma amplified sequence
gamma-adducin
adducin 3
Cbp6
M19
bA6B20.2
cytochrome B protein synthesis 6 homolog (S. cerevisiae)
ubiquinol-cytochrome c reductase complex assembly factor 2
MTHFR deficiency
Methylene tetrahydrofolate reductase deficiency
Homocystinuria due to methylene tetrahydrofolate reductase (MTHFR) deficiency is a metabolic disorder characterised by neurological manifestations.
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
CAB2
MGC9753
PER1
PP1498
post-GPI attachment to proteins 3
integrin subunit alpha 8
YAP65
Yes associated protein 1
CHIP
HSPABP2
NY-CO-7
SDCCAG7
UBOX1
STIP1 homology and U-box containing protein 1
ADRARL1
adrenoceptor alpha 2B
inhibin subunit beta A
p65
RELA proto-oncogene, NF-kB subunit
MGC3032
chromosome 11 open reading frame 95
Chronic hiccup is a rare movement disorder characterized by involuntary spasmodic contractions of the inspiratory muscles synchronized with larynx closure lasting for more than 48 hours.
Chronic hiccup
ADGF
adenosine deaminase 2
PET100 homolog
CI-9k
MLRQ
NADH-ubiquinone oxidoreductase MLRQ subunit
complex I 9kDa subunit
NDUFA4, mitochondrial complex associated
Horton disease
Temporal arteritis
Giant cell arteritis (GCA) is a large vessel vasculitis predominantly involving the arteries originating from the aortic arch and especially the extracranial branches of the carotid arteries.
Giant cell arteritis
Disseminated granulomatous dermatophytosis
Deep dermatophytosis
Silver-Russell syndrome due to a point mutation
Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency is a rare, hereditary, mitochondrial oxidative phosphorylation disorder characterized by severe neonatal lactic acidosis and deficiency of mitochondrial complexes I, II and III. Clinical features are variable and may include hypotonia, respiratory distress with cyanosis, failure to thrive, feeding difficulties, hypoglycemia, dehydration, vomiting, seizures, and a risk of multiple organ failure.
Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency
APDS
Senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutation
Activated PI3K-delta syndrome is a rare, genetic, primary immunodeficiency disease characterized by increased susceptibility to recurrent and/or severe bacterial and viral infections (in particular, sinopulmonary bacterial and herpesvirus infections), chronic benign lymphoproliferation (manifesting as lympadenopathy, hepatosplenomegaly and focal nodular lymphoid hyperplasia), and/or autoimmune disease (including immune cytopenias, juvenile arthritis, glomerulonephritis and sclerosing cholangitis). Immunophenotypically, variable degrees of agammaglobulinemia with increased IgM levels, increased circulating transitional B cells, decreased naïve CD4 and CD8 T-cells with increased CD8 effector/memory T cells are observed.
Activated PI3K-delta syndrome
Chronic diarrhea with HSAN
Chronic diarrhea with hereditary sensory and autonomic neuropathy
Prion protein systemic amyloidosis
(20p13) leading to deposition of prion protein amyloid.
PrP systemic amyloidosis
Macrocephaly-developmental delay syndrome is a rare, intellectual disability syndrome characterized by macrocephaly, mild dysmorphic features (frontal bossing, long face, hooded eye lids with small, downslanting palpebral fissures, broad nasal bridge, and prominent chin), global neurodevelopmental delay, behavioral abnormalities (e.g. anxiety, stereotyped movements) and absence or generalized tonic-clonic seizures. Additional features reported in some patients include craniosynostosis, fifth finger clinodactyly, recurrent pneumonia, and hepatosplenomegaly.
Macrocephaly-developmental delay syndrome
Obesity due to CEP19 deficiency
FHONDA syndrome
Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome is a rare, genetic, eye disease characterized by foveal hypoplasia, optic nerve misrouting with an increased number of axons decussating at the optic chiasm and innervating the contralateral cortex, and posterior embryotoxon or Axenfeld anomaly (indicating anterior segment dysgenesis), in the absence of albinism. Patients present congenital nystagmus, decreased visual acuity, refractive errors and, ocassionally, strabismus. Microphthalmia and retinochoroidal coloboma may also be associated.
Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome
SAMS syndrome
Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by short stature, conductive hearing loss due to bilateral auditory canal atresia, mandibular hypoplasia and multiple skeletal abnormalities, including bilateral humeral hypoplasia, humeroscapular synostosis, delayed pubis rami ossification, central dislocation of the hips, and proximal femora defects, as well as bilateral talipes equinovarus, proximally implanted thumbs and lumbar hyperlordosis. Associated craniofacial dysmorphism includes micro/scaphocephaly, malar hypoplasia, high-arched palate, and simple, dysplastic pinnae with prearicular pits/tags.
Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
Familial isolated prolactin receptor deficiency
Familial hyperprolactinemia is a rare, genetic endocrine disorder characterized by persistently high prolactin serum levels (not associated with gestation, puerperium, drug intake or pituitary tumor) in multiple members of a family. Clinically it manifests with signs usually observed in hyperprolactinemia, which are: secondary medroxyprogesterone acetate (MPA)-negative amenorrhea and galactorrhea in female patients, and hypogonadism and decreased testosterone level-driven sexual dysfunction in male patients. Oligomenorrhea and primary infertility have also been reported in some female patients.
Familial hyperprolactinemia
Hereditary isolated aplastic anemia is a rare, genetic, constitutional aplastic anemia disorder characterized by severe peripheral blood pancytopenia and bone marrow hypoplasia in multiple individuals of a family, in the absence of any somatic symptoms. Abnormal bleeding, as well as erythrocyte macrocytosis, is reported and patients usually become transfusion-dependent.
Hereditary isolated aplastic anemia
3q27.3 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 3, characterized by mild to severe intellectual disability, neuropsychiatric disorders of the psychotic and dysthymic spectrum, mild distinctive facial dysmorphism (incl. slender face, deep-set eyes, high nasal bridge with a hooked nose, small, low- set ears, short philtrum, small mouth with thin upper lip, prognathism) and a marfanoid habitus.
3q27.3 microdeletion syndrome
Autosomal recessive spinocerebellar ataxia type 20
Intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome
SCAR20
Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome is a rare, genetic, central nervous system malformation syndrome characterized by early-onset, progressive, severe cerebellar ataxia associated with progressive, moderate to severe intellecutal disability, global developmental delay, progressively coarsening facial features, relative macrocephaly and absence of seizures. Sensorineural hearing loss may be associated. Neuroimaging reveals cerebellar atrophy/hypoplasia.
Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome
JBTS with JATD
Joubert syndrome with JATD
Joubert syndrome with Jeune asphyxiating thoracic dystrophy (JATD) is an extremely rare genetic bone disorder characterized by the classic features of Joubert syndrome (i.e. malformation of the brainstem causing ataxia, hypotonia,cognitive impairment, and abnormal eyemovements), associated with the skeletal anomalies found in JATD including short-rib dysplasia and narrow thorax causing respiratory failure, short limbs, and metaphyseal changes.
Joubert syndrome with Jeune asphyxiating thoracic dystrophy
CoPAN
NBIA6
Neurodegeneration with brain iron accumulation due to COASY mutation
COASY protein-associated neurodegeneration (CoPAN) is a very rare, slowly progressive form of neurodegeneration with brain iron accumulation (NBIA) characterized by classic NBIA features. The clinical manifestations include early-onset spastic-dystonic paraparesis, oromandibular dystonia, dysarthria, parkinsonism, axonal neuropathy, progressive cognitive impairment, complex motor tics, and obsessive-compulsive disorder.
COASY protein-associated neurodegeneration
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation
Autosomal dominant Charcot-Marie-Tooth disease type 2U is a subtype of autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by late adult-onset (50-60 years of age) of slowly progressive, axonal, peripheral sensorimotor neuropathy resulting in distal upper limb and proximal and distal lower limb muscle weakness and atrophy, in conjunction with distal, panmodal sensory impairment in upper and lower limbs. Tendon reflexes are reduced and nerve conduction velocities range from reduced to absent. Neuropathic pain has also been associated.
Autosomal dominant Charcot-Marie-Tooth disease type 2U
Peripheral neuropathy-myopathy-hoarseness-deafness syndrome
Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome is a rare, syndromic genetic deafness characterized by a combination of muscle weakness, chronic neuropathic and myopathic features, hoarseness and sensorineural hearing loss. A wide range of disease onset and severity has been reported even within the same family.
Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
Periodic paralysis with later-onset distal motor neuropathy is a rare, genetic, neuromuscular disease characterized by acute episodic muscle weakness in upper and lower extremities (which responds to acetazolamide treatment) associated with later-onset, chronic, slowly progressive, distal, axonal neuropathy.
Periodic paralysis with later-onset distal motor neuropathy
Periodic paralysis with transient compartment-like syndrome is a rare, genetic, neuromuscular disease characterized by normokalemic episodes of painful muscle cramping followed by progressive, permanent, flaccid weakness, triggered by stress, cold and exercise, associated with myopathic myopathy and painful acute edema with neuronal compression, foot drop and muscle degeneration when located in the tibialis anterior muscle group.
Periodic paralysis with transient compartment-like syndrome
Retinal dystrophy with inner nuclear layer and ganglion cell anomalies
Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies is a rare, genetic, retinal dystrophy disorder characterized by decreased central retinal sensitivity associated with hyper-reflectivity of ganglion cells and nerve fiber layer with loss of optic nerve fibers manifesting with fotophobia, optic disc pallor and progressive loss of central vision with preservation of peripheral visual field.
Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies
SCID due to IKK2 deficiency
Severe combined immunodeficiency due to IKK2 deficiency is a rare, genetic form of primary immunodeficiency characterized by life-threatening bacterial, fungal and viral infections with the onset in infancy, and failure to thrive. Typically, hypogammaglobulinemia or agammaglobulinemia and normal levels of T and B cells are present.
Severe combined immunodeficiency due to IKK2 deficiency
T+ B+ severe combined immunodeficiency
Cerebro-cutaneous syndrome with iron overload
Ferro-cerebro-cutaneous syndrome is a rare, genetic, metabolic liver disease characterized by progressive neurodegeneration, cutaneous abnormalities, including varying degrees of ichthyosis or seborrheic dermatitis, and systemic iron overload. Patients manifest with infantile-onset seizures, encephalopathy, abnormal eye movements, axial hypotonia with peripheral hypertonia, brisk reflexes, cortical blindness and deafness, myoclonus and hepato/splenomegaly, as well as oral manifestations, including microdontia, wiedely spaced and pointed teeth with delayed eruption, and gingival overgrowth.
Ferro-cerebro-cutaneous syndrome
Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome is a rare, genetic, neural tube defect malformation syndrome characterized by sacral agenesis and abnormal vertebral body ossification with normal vertebral arches associated with notochord canal persistence on ultrasonography. Additional findings include bilateral clubfoot, oligohydramnios, single umbilical artery and, in some, increased nuchal translucency.
Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome
IQSEC2-related syndromic intellectual disability
Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by severe intellectual disability, non-inherited, progressive, post-natal microcephaly, hypotonia, hyperkinesia, absence of speech, strabismus, and midline stereotypic hand movements (e.g. hand washing/rubbing). Additional features include developmental delay, seizures and behavioral disturbances, such as self injury and unexplained crying episodes.
Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome
PGBM1
Polyglucosan body myopathy type 1 is a rare, genetic, glycogen storage disorder characterized by polyglucosan accumulation in various tissues, manifesting with progressive proximal muscle weakness in the lower limbs and rapidly progressive, usually dilated, cardiomyopathy. Hepatic involvement and growth retardation may be associated. Early-onset immunodeficiency and autoinflammation, presenting with recurrent bacterial infections, have also been reported.
Polyglucosan body myopathy type 1
Carbohydrate deficient glycoprotein syndrome type II due to MAN1B1 deficiency
Congenital disorder of glycosylation type 2 due to MAN1B1 deficiency
Congenital disorder of glycosylation type II due to MAN1B1 deficiency
Intellectual disability-truncal obesity syndrome
MAN1B1-CDG
Autosomal recessive spastic ataxia type 2
SPAX2
SPG58
Autosomal recessive spastic paraplegia type 58 is a rare, complex subtype of hereditary spastic paraplegia characterized by variable onset of slowly progressive lower limb spasticity and weakness and prominent cerebellar ataxia, associated with gait disturbances, dysarthria, increased deep tendon reflexes and extensor plantar responses. Additional features may include involuntary movements (i.e. clonus, tremor, fasciculations, chorea), decreased vibration sense, oculomotor abnormalities (e.g. nystagmus) and distal amyotrophy in the upper and lower limbs.
Autosomal recessive spastic paraplegia type 58
Microcephaly-thin corpus callosum-intellectual disability syndrome is a rare, genetic, syndromic intellectual disability disease characterized by progressive postnatal microcephaly and global developmental delay, as well as moderate to profound intellectual disability, difficulty or inability to walk, pyramidal signs (including spasticity, hyperreflexia and extensor plantar response) and thin corpus callosum revealed by brain imaging. Ophthalmologic signs (including nystagmus, strabismus and abnormal retinal pigmentation), foot deformity and genital anomalies may also be associated.
Microcephaly-thin corpus callosum-intellectual disability syndrome
TCR-alpha-beta+ T-cell deficiency
TCR-alpha-beta-positive T-cell deficiency is a rare, hereditary primary immunodeficiency characterized by recurrent respiratory tract infection, otitis media, candidiasis, diarrhea, as well as various signs and symptoms of immune dysregulation (hypereosinophilia, eczema, vitiligo, alopecia areata, autoimmune hemolytic anemia, pityriasis rubra pilaris). Failure to thrive, moderate lymphadenopathy and hepatomegaly have also been reported.
TCR-alpha-beta-positive T-cell deficiency
Combined immunodeficiency due to MALT1 deficiency is a rare, genetic form of primary immunodeficiency characterized by growth retardation, early recurrent pulmonary infections leading to bronchiectasis, inflammatory gastrointestinal disease, and other symptoms, such as rash, dermatitis, skin infections.
Combined immunodeficiency due to MALT1 deficiency
CMT2R
Charcot-Marie-Tooth disease type 2R is a rare subtype of axonal hereditary motor and sensory neuropathy characterized by early-onset axial hypotonia, generalized muscle weakness, absent deep tendon reflexes and decreased muscle mass. Electromyography reveals decreased motor nerve conduction velocities with markedly reduced sensory and motor amplitudes.
Charcot-Marie-Tooth disease type 2R
MOMES syndrome
Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by mild to profound intellectual disability, delayed speech, obesity, ocular anomalies (blepharophimosis, blepharoptosis, hyperopic astigmatism, decreased visual acuity, strabismus, abducens nerve palsy, and/or accommodative esotropia), and dermal manifestations, such as chronic atopic dermatitis. Associated craniofacial dysmorphism includes macrocephaly, maxillary hypoplasia, mandibular prognathism, and crowding of teeth.
Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome
Cancer of penis
Malignant penile tumor
Penile cancer
Malignant tumor of penis
Penile adenocarcinoma
Adenocarcinoma of the penis is an extremely rare penile epithelial neoplasm, histologically composed of nests of epithelilal cells floating in lakes of extracellular, PAS-positive mucin, clinically characterized by a nonhealing ulcer or soft mass in the preputium or glans area, with itching and burning often preceding appearance of the lesion. Lymphadenopathy may indicate dissemination. Mucinous metaplasia of the penis may be a risk factor.
Adenocarcinoma of the penis
Penile squamous cell carcinoma
Squamous cell carcinoma of the penis
Refractory CD
Refractory sprue
Refractory celiac disease is a rare intestinal disease characterized by persistent or recurrent symptoms and signs of confirmed celiac disease despite a long-term, strict, gluten-free diet, in the absence of other causes of villous atrophy or malignant complications and with or without presence of increased abnormal intraepitelial lymphocytes.
Refractory celiac disease
PWS due to a point mutation
Schaaf-Yang syndrome
Prader-Willi syndrome due to a point mutation
PWS-like
Prader-Willi-like syndrome is a rare, genetic, endocrine disease characterized by manifestations of a Prader-Willi syndrome phenotype (including obesity, hyperphagia, hypotonia, psychomotor delay, intellectual disability, small hands/feet, hypogonadism, growth hormone deficiency and characteristic facial features) ocurring in the absence of 15q11-q13 genomic abnormalities.
Prader-Willi-like syndrome
PWS-like due to a point mutation
Prader-Willi-like syndrome due to a point mutation
Hereditary cryohydrocytosis with normal stomatin is a rare, hereditary, hemolytic anemia due to a red cell membrane anomaly characterized by fatigue, mild anemia and pseudohyperkalemia due to a potassium leak from the red blood cells. A hallmark of this condition is that red blood cells lyse on storage at 4 degrees centigrade.
Hereditary cryohydrocytosis with normal stomatin
Transplacentally acquired neonatal autoimmune disease
Secondary neonatal autoimmune disease
Neonatal Hughes syndrome
Neonatal antiphospholipid antibody syndrome
Neonatal antiphospholipid syndrome is a rare, secondary, neonatal autoimmune disease characterized by single or recurrent episodes of venous, arterial or mixed thrombosis in a neonate whose mother does not have antiphospholipid syndrome manifestations. Patients present positive antiphospholipid antibodies and may have additional abnormalities associated (e.g. cardiac valve disease, livedo reticularis, thrombocytopenia, nephropathy, neurological manifestations).
Neonatal antiphospholipid syndrome
Neonatal AHA
Neonatal AIHA
Neonatal autoimmune hemolytic anemia is a very rare, secondary, neonatal autoimmune disease characterized by onset of hemolytic anemia in the neonatal period associated with a positive direct antiglobulin test. Hepatosplenomegaly may be associated.
Neonatal autoimmune hemolytic anemia
Neonatal DM
Neonatal dermatomyositis is a very rare, secondary, neonatal autoimmune disease characterized by generalized weakness, severe hypotonia, absent or reduced deep tendon reflexes, and highly elevated serum creatine kinase levels presenting in the neonatal period. Perifascicular atrophy in the presence of a diffuse perivascular inflammatory cell exudate is observed on muscle biopsy.
Neonatal dermatomyositis
GVH
Acute graft-versus-host disease (GVHD) occurs after allogeneic hematopoietic stem cell transplant and is a reaction of donor immune cells against host tissues. Activated donor T cells damage host epithelial cells after an inflammatory cascade that begins with the preparative regimen.
Graft versus host disease
Neonatal lupus erythematosus
Neonatal scleroderma is a very rare, secondary, neonatal autoimmune disease characterized by neonatal-onset of erythematous skin lesions with a linear appearance that gradually become indurated and hyperpigmented and progressively present skin atrophy. Positive serum antibodies (in particular antinuclear antibodies and/or rheumatoid factor) may be associated.
Neonatal scleroderma
AFP
Atypical facial pain
PIFP
Persistent idiopathic facial pain
OAFNS
Oculoauriculofrontonasal syndrome is a rare dysostosis syndrome characterized by vertical, median craniofacial clefting of fronto-naso-maxillary structures associated with auriculo-mandibular malformations, manifesting with highly variable craniofacial features which include hypertelorism, eyelid colobomas, orbital dystopia, epibulbar dermoids, nasal anomalies (e.g. wide nasal bridge, bifid nose, widely separated, slit-like nares, nasal bone dysplasia), auricular and middle ear dysplasia (microtia, aural stenosis, pre-auricular skin tags/pits), cleft lip/palate, mandibular/maxillary hypoplasia and facial asymmetry. Intracranial abnormalities and extra-craniofacial features are frequently associated.
Oculoauriculofrontonasal syndrome
FFDD
Focal facial dermal dysplasias (FFDD) are rare ectodermal dysplasias, characterized by congenital bitemporal (resembling forceps marks) or preauricular scar-like lesions associated with additional facial and or systematic manifestations. 4 types of FFDD are described (FFDD I to IV; see these terms). FFDD types II and III present with a variable facial dysmorphism including distichiasis (upper lashes) or lacking eyelashes, and upward slanting and thinned lateral eyebrows with a flattened nasal bridge and full upper lip. FFDD types I and IV are infrequently associated with extra-cutaneous anomalies.
Focal facial dermal dysplasia
FFDD type II
FFDD2
Focal facial dermal dysplasia 2, Brauer-Setleis type
Focal facial dermal dysplasia type II (FFDD2) is a focal facial dermal dysplasia (FFDD; see this term), characterized by congenital bitemporal scar-like depressions and other facial and organ abnormalities.
Focal facial dermal dysplasia type II
FFDD type IV
FFDD4
Focal facial dermal dysplasia 4
Focal facial preauricular dysplasia
Focal facial dermal dysplasia type IV (FFDD4) is a rare focal facial dysplasia (FFDD; see this term), characterized by congenital isolated preauricular and/or cheek blister scar-like lesions.
Focal facial dermal dysplasia type IV
GMP
PNT5
cN-II
purine 5' nucleotidase
5'-nucleotidase, cytosolic II
kinesin family member 1C
CD236
CD236R
GPC
GYPD
glycophorin C (Gerbich blood group)
solute carrier family 7, member 2-intron1 (long non-coding RNA)
Epithelial cancer of ovary
Ovarian epithelial cancer
Ovarian malignant epithelial tumor
Malignant epithelial tumor of ovary
Non-epithelial cancer of ovary
Ovarian malignant non-epithelial tumor
Ovarian non-epithelial cancer
Malignant non-epithelial tumor of ovary
Ovarian mucinous adenocarcinoma
Mucinous adenocarcinoma of ovary is a rare, malignant epithelial tumor of the ovary characterized, macroscopically, by a large, usually unilateral tumor with smooth surface and evenly distributed cystic and solid areas and, histologically, by a complex papillary growth pattern with microscopic cystic glands and necrotic debris. Patients often present with pelvic pain and pressure, abdominal mass or gastrointestinal problems such as early satiety or bloating.
Mucinous adenocarcinoma of ovary
Ovarian clear cell adenocarcinoma
Clear cell adenocarcinoma of ovary is a rare, malignant, epithelilal ovarian neoplasm, composed of clear, eosinophilic and hobnail cells displaying variable degrees of tubulocystic, papillary and solid histological patterns, macroscopically appearing as a typically unilateral mass in the ovary which ranges from solid to cystic. Patients are often diagnosed in early stages and usually present with pelvic pain and pressure, an abdominal mass and/or gastrointestinal problems, such as early satiety or bloating. Association with Lynch syndrome has been reported.
Clear cell adenocarcinoma of the ovary
PPSPC
Primary peritoneal serous/papillary carcinoma
Immature teratoma of ovary
Ovarian immature teratoma
Ovarian malignant teratoma
Malignant teratoma of ovary
Huntington chorea
Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia.
Huntington disease
Late-onset distal crystallinopathy
Alpha-B crystallin-related late-onset distal myopathy
KLHL9-related early-onset distal myopathy is a rare, genetic distal myopathy characterized by slowly progressive distal limb muscle weakness and atrophy (beginning with anterior tibial muscle involvement followed by the intrinsic hand muscles) in association with reduced sensation in a stocking-glove distribution. Patients present with high stepping gait, ankle areflexia and contractures in the first to second decade of life, associated with marked ankle extensor muscle atrophy; later proximal muscle involvement is moderate and ambulation is preserved throughout the life.
KLHL9-related early-onset distal myopathy
Distal myopathy type 3
MPD3
Finnish upper limb-onset distal myopathy is a rare, genetic distal myopathy characterized by slowly progressive distal to proximal limb muscle weakness and atrophy, with characteristic early involvement of thenar and hypothenar muscles. Patients present with clumsiness of the hands and stumbling in the fourth to fifth decade of life, and later develop steppage gait and contractures of the hands. Progressive fatty degeneration affects intrinsic muscles of the hands, gluteus medium and both anterior and posterior compartment muscles of the distal lower extremities, with later involvement of forearm muscles, triceps, infraspinatus and the proximal lower limb muscles. Asymmetry of muscle involvement is common.
Finnish upper limb-onset distal myopathy
MMD3
Miyoshi muscular dystrophy type 3
Distal anoctaminopathy is a rare, autosomal recessive distal myopathy characterized by early adult-onset, slowly progressive, often asymmetrical, lower limb muscle weakness initially affecting the calves (with relative anterior muscle sparing) and later proximal muscle involvement, as well as highly elevated creatine kinase (CK) serum levels.
Distal anoctaminopathy
Nebulin-related early-onset distal myopathy
Distal nebulin myopathy is a rare, slowly progressive, autosomal recessive distal myopathy characterized by early onset of predominantly distal muscle weakness and atrophy affecting lower leg extensor muscles, finger extensors and neck flexors. Muscle histology does not always show nemaline rods.
Distal nebulin myopathy
Bone necrosis
Osteonecrosis
AVN
Avascular necrosis
Secondary AVN
Secondary avascular necrosis
Traumatic AVN
Traumatic avascular necrosis
Secondary non-traumatic AVN
Secondary non-traumatic avascular necrosis
Rare hereditary disease with avascular necrosis
Osteonecrosis of the jaw
Primary AVN
Primary avascular necrosis
Idiopathic AVN
Idiopathic avascular necrosis
Osteochondrosis
Epiphysiolysis of the upper femur
Femoral head epiphysiolysis
SCFE
SUFE
Slipped capital femoral epiphysis
Slipped upper femoral epiphysis
Epiphysiolysis of the hip is a rare osteonecrosis disorder characterized by unilateral or bilateral disruption of the capital femoral physis with varying degrees of posterior epiphysis translation and simultaneous anterior metaphysis displacement. Patients typically present in pre-adolescence/adolescence with pain of variable intensity in varying locations (hip, groin, thigh, knee).
Epiphysiolysis of the hip
Bone necrosis of genetic origin
Osteonecrosis of genetic origin
Avascular necrosis of genetic origin
Osteochondrosis of genetic origin
Rare male infertility due to gonadotropic axis disorder
Rare male infertility due to hypothalamic-pituitary-testicular axis disorder
Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder
Rare male infertility due to adrenal disorder
Rare male infertility due to testicular endocrine disorder
Male infertility due to testicular dysgenesis or sperm disorder
Male infertility due to gonadal dysgenesis or sperm disorder
Male infertility due to sperm disorder
Male infertility with spermatogenesis disorder
Male infertility with spermatogenesis disorder due to single gene mutation
Male infertility with azoospermia or oligospermia due to single gene mutation is a rare, genetic male infertility due to sperm disorder characterized by the absence of a measurable amount of spermatozoa in the ejaculate (azoospermia), or a number of sperm in the ejaculate inferior to 15 million/mL (oligozoospermia), resulting from a mutation in a single gene known to cause azoo- or oligo-spermia. Sperm morphology may be normal.
Male infertility with azoospermia or oligozoospermia due to single gene mutation
Male infertility with teratozoospermia due to single gene mutation is a rare, genetic male infertility due to sperm disorder characterized by the presence of spermatozoa with abnormal morphology, such as macrozoospermia or globozoospermia, in over 85% of sperm, resulting from mutation in a single gene known to cause teratozoospermia. It is a heterogeneous group that includes a wide range of abnormal sperm phenotypes affecting, solely or simultaneously, head, neck, midpiece, and/or tail.
Male infertility with teratozoospermia due to single gene mutation
Male infertility due to asthenozoospermia
Male infertility due to sperm motility disorder
Rare disorder due to impaired sperm transport
Rare disorder with obstructive azoospermia
Rare female infertility due to gonadotropic axis disorder
Rare female infertility due to hypothalamic-pituitary-ovarian axis disorder
Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder
Rare female infertility due to a congenital hypogonadotropic hypogonadism
Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism
Rare female infertility due to an adrenal disorder
Rare female infertility due to an anomaly of ovarian function
Rare female infertility due to ovarian dysgenesis
Rare female infertility due to gonadal dysgenesis
Rare female infertility due to an implantation defect
Rare genetic male infertility
Rare male infertility due to gonadotropic axis disorder of genetic origin
Rare male infertility due to hypothalamic-pituitary-testicular axis disorder of genetic origin
Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin
Rare male infertility due to adrenal disorder of genetic origin
Male infertility due to impaired sperm transport of genetic origin
Male infertility due to obstructive azoospermia of genetic origin
120 cm), both axial and appendicular involvement (shortening of the middle and distal segments of limbs and vertebral shortening), and with normal facial appearance and intelligence. It is a less severe form than acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Hunter-Thomson type (see these terms).
Acromesomelic dysplasia, Maroteaux type
Hydatid disease
Hydatidosis
tapeworm, the adult form of which parasitises the intestine of dogs. Hydatidosis generally affects large domestic herbivores; humans are dead-end hosts, infected through contact with herding dogs or through ingestion of food contaminated with canine excrement.
Cystic echinococcosis
Rare genetic disorder due to impaired sperm transport
Rare genetic disorder with obstructive azoospermia
Rare genetic female infertility
Rare female infertility due to gonadotropic axis disorder of genetic origin
Rare female infertility due to hypothalamic-pituitary-testicular axis disorder of genetic origin
Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin
Rare female infertility due to adrenal disorder of genetic origin
Rare female infertility due to an anomaly of ovarian function of genetic origin
Female infertility due to an implantation defect of genetic origin
Gwt1
phosphatidylinositol glycan anchor biosynthesis class W
KIAA0678
RME8
DnaJ heat shock protein family (Hsp40) member C13
rd5
tubby bipartite transcription factor
CGI-203
ISD11
LYR motif containing 4
IscS
NifS
NFS1, cysteine desulfurase
Fbx38
MOKA
SP329
F-box protein 38
p110D
phosphatidylinositol 3-kinase, catalytic, delta polypeptide
phosphoinositide-3-kinase C
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta
kaptin, actin binding protein
centrosomal protein 19
solute carrier family 38 member 8
goosecoid homeobox
prolactin receptor
HT013
kizuna centrosomal protein
integrin subunit beta 6
NECAP endocytosis associated 1
, that is reported worldwide but particularly in tropical and subtropical countries and which is usually asymptomatic but in severe cases can also manifest with nausea, abdominal pain, anorexia, diarrhea and overall weakness.
Hymenolepiasis
patched domain containing 1
KIAA1613
PPP1R142
protein phosphatase 1, regulatory subunit 142
solute carrier family 7 member 14
fibroblast growth factor 20
DFFRX
MRX99
ubiquitin specific peptidase 9 X-linked
G1/S-specific cyclin D2
cyclin D2
HCCS1
VPS53, GARP complex subunit
TAFII105
TATA box binding protein (TBP)-associated factor 4B
TATA-box binding protein associated factor 4b
zinc finger MYND-type containing 15
CoASY
DPCK
PPAT
Coenzyme A synthase
Trilineage bone marrow failure-developmental delay syndrome
Pancytopenia-developmental delay syndrome is a rare, genetic, hematologic disorder characterized by progressive trilineage bone marrow failure (with hypocellularity), developmental delay with learning disabilities, and microcephaly. Mild facial dysmorphism and hypotonia have also been reported.
Pancytopenia-developmental delay syndrome
Proximal myopathy with extrapyramidal signs is a rare, hereditary non-dystrophic myopathy characterized by proximal muscle weakness, delayed motor development, learning difficulties, and progressive extrapyramidal motor signs including chorea, dystonia and tremor. Variable additional features have been reported - ataxia, microcephaly, ophthalmoplegia, ptosis, and optic atrophy.
Proximal myopathy with extrapyramidal signs
IKK-beta
IKK2
IKKB
NFKBIKB
inhibitor of nuclear factor kappa B kinase subunit beta
BBSOAS
Bosch-Boonstra-Schaaf optic atrophy syndrome
Optic atrophy-intellectual disability syndrome is a rare, hereditary, syndromic intellectual disability characterized by developmental delay, intellectual disability, and significant visual impairment due to optic nerve atrophy, optic nerve hypoplasia or cerebral visual impairment. Other common clinical signs and symptoms are hypotonia, oromotor dysfunction, seizures, autism spectrum disorder, and repetitive behaviors. Dysmorphic facial features are variable and nonspecific.
Optic atrophy-intellectual disability syndrome
SPG61
gene (16p12-p11.2) encoding the ADP-ribosylation factor-like protein 6-interacting protein 1.
Autosomal recessive spastic paraplegia type 61
SPG62
Autosomal recessive spastic paraplegia type 62 is a pure or complex form of hereditary spastic paraplegia characterized by an onset in the first decade of life of spastic paraperesis (more prominent in lower than upper extremities) and unsteady gait, as well as increased deep tendon reflexes, amyotrophy, cerebellar ataxia, and flexion contractures of the knees, in some.
Autosomal recessive spastic paraplegia type 62
SPG59
Autosomal recessive spastic paraplegia type 59 is a very rare, complex hereditary spastic paraplegia characterized by an early onset of progressive lower limb spasticity, tip-toe walking, scissor gait, hyperreflexia and clonus that may be associated with borderline intellectual disability. Nystagmus and pes equinovarus have also been reported.
Autosomal recessive spastic paraplegia type 59
SPG60
Autosomal recessive spastic paraplegia type 60 is a rare, complex hereditary spastic paraplegia disorder characterized by infantile onset of progressive lower limb spasticity, inability to walk, hypertonia and impaired vibration sense at ankles, with complicating signs including sensory impairment, nystagmus, motor axonal neuropathy and mild intellectual disability.
Autosomal recessive spastic paraplegia type 60
gene (1p13.3) encoding AMP deaminase 2.
Autosomal recessive spastic paraplegia type 63
SPG64
gene (10q24.1), encoding ectonucleoside triphosphate diphosphohydrolase 1.
Autosomal recessive spastic paraplegia type 64
SPG66
Autosomal recessive spastic paraplegia type 66 is a rare, complex hereditary spastic paraplegia disorder characterized by infantile onset of progressive lower limb spasticity, severe gait disturbances leading to a non-ambulatory state, absent deep tendon reflexes and amyotrophy. Additional signs include severe sensorimotor neuropathy, pes equinovarus and mild intellectual disability. Cerebellar and corpus callosum hypoplasia, as well as colpocephaly, are observed on neuroimaging.
Autosomal recessive spastic paraplegia type 66
SPG67
Autosomal recessive spastic paraplegia type 67 is an extremely rare, complex hereditary spastic paraplegia characterized by an infancy or childhood onset of global developmental delay and progressive spasticity with tremor in the distal limbs, increased deep tendon reflexes and extensor plantar responses, which may be associated with mild intellectual disability. Additional features include muscle wasting and cerebellar abnormalities.
Autosomal recessive spastic paraplegia type 67
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_320406 with label: Spastic paraplegia-optic atrophy-neuropathy syndrome
Autosomal recessive spastic paraplegia type 69 is a rare, complex hereditary spastic paraplegia disorder characterized by infantile onset of progressive lower limb spasticity, global developmental delay, hyperreflexia, clonus and extensor plantar reflexes, associated with dysarthria, intellectual disability, cataracts and hearing impairment.
Autosomal recessive spastic paraplegia type 69
Autosomal recessive spastic paraplegia type 70 is a very rare, complex subtype of hereditary spastic paraplegia that presents in infancy with delayed motor development (i.e. crawling, walking) and is characterized by lower limb spasticity, increased deep tendon reflexes, extensor plantar responses, impaired vibratory sensation at ankles, amyotrophy and borderline intellectual disability. Additional signs may include gait disturbances, Achilles tendon contractures, scoliosis and cerebellar abnormalities.
Autosomal recessive spastic paraplegia type 70
SPG71
Autosomal recessive spastic paraplegia type 71 is a rare, genetic, pure hereditary spastic paraplegia disorder characterized by infancy onset of crural spastic paraperesis with scissors gait, extensor plantar response, and increased tendon reflexes. Neuroimaging reveals a thin corpus callosum and electromyography and nerve conduction velocity studies are normal.
Autosomal recessive spastic paraplegia type 71
SPG72
Autosomal spastic paraplegia type 72 is a rare, genetic, pure hereditary spastic paraplegia disorder characterized by early childhood onset of slowly progressive crural spastic paraparesis presenting with spastic gait, mild stiffness at rest, hyperreflexia (in lower limbs), extensor plantar responses and, in some, mild postural tremor, pes cavus, sphincter disturbances and sensory loss at ankles.
Autosomal spastic paraplegia type 72
Lipoate biosynthesis defect
Lipoic acid biosynthesis defect
Lipoic acid synthetase deficiency is a rare neurometabolic disease characterized by a neonatal onset of seizures (often intractable), muscular hypotonia, feeding difficulties (poor sucking and/or swallowing) and mild to severe psychomotor delay, associated with nonketotic hyperglycinemia typically revealed by biochemical analysis. Respiratory problems (apnea, acute respiratory acidosis), lethargy, hearing loss, microcephaly and spasticity with pyramidal signs may also be associated.
Lipoic acid synthetase deficiency
Lipoyl transferase 1 deficiency is a very rare inborn error of metabolism disorder, with a highly variable phenotype, typically characterized by neonatal to infancy-onset of seizures, psychomotor delay, and abnormal muscle tone that may include hypo- and/or hypertonia, resulting in generalized weakness, dystonic movements, and/or progressive respiratory distress, associated with severe lactic acidosis and elevated lactate, ketoglutarate and 2-oxoacids in urine. Additional manifestations may include dehydration, vomiting, signs of liver dysfunction, extrapyramidal signs, spastic tetraparesis, brisk deep tendon reflexes, speech impairment, swallowing difficulties, and pulmonary hypertension.
Lipoyl transferase 1 deficiency
Childhood-onset spasticity with variant non-ketotic hyperglycinemia
Spasticity-ataxia-gait anomalies syndrome
Childhood-onset spasticity with hyperglycinemia is a rare neurometabolic disease characterized by a childhood onset of progressive spastic ataxia associated with gait disturbances, hyperreflexia, extensor plantar responses and non-ketotic hyperglycinemia typically revealed by biochemical analysis. Additional signs of upper extremity spasticity, dysarthria, learning difficulties, poor concentration, nystagmus, optic atrophy and reduced visual acuity may also be associated.
Childhood-onset spasticity with hyperglycinemia
NFU1 deficiency
Multiple mitochondrial dysfunctions syndrome type 1
BOLA3 deficiency
Multiple mitochondrial dysfunctions syndrome type 2
CIF150
TAFII150
TATA-box binding protein associated factor 2
C9ORF72-related Huntington disease phenocopy
C9ORF72-related Huntington disease-like syndrome
Huntington disease phenocopy due to C9ORF72 expansions
Huntington disease-like syndrome due to C9ORF72 expansions is a rare, genetic neurodegenerative disease characterized by movement disorders, including dystonia, chorea, myoclonus, tremor and rigidity. Associated features are also cognitive and memory impairment, early psychiatric disturbances and behavioral problems.
Huntington disease-like syndrome due to C9ORF72 expansions
T-cell receptor alpha constant
AXIN2-related AFAP
AXIN2-related attenuated FAP
AXIN2-related attenuated familial polyposis coli
AXIN2-related attenuated familial adenomatous polyposis
FHCC
Fibrolamellar hepatocarcinoma
Fibrolamellar hepatocellular carcinoma
Monosomy 9q31.1q31.3
9q31.1q31.3 microdeletion syndrome is a rare, genetic, syndromic intellectual disability characterized by mild intellectual disability, short stature with high body mass index, short neck with cervical gibbus and dysmorphic facial features. A metabolic syndrome, including type 2 diabetes, hypercholesterolemia and hypertension has also been reported.
9q31.1q31.3 microdeletion syndrome
KIAA0517
RNF86
tripartite motif containing 2
Monosomy 14q24.1q24.3
14q24.1q24.3 microdeletion syndrome is a rare, genetic, syndromic intellectual disability characterized by mild intellectual disability, delayed speech development, congenital heart defects, brachydactyly and dysmorphic facial features.
14q24.1q24.3 microdeletion syndrome
Familial median cleft of the upper and lower lips is a rare and isolated orofacial defect characterized by incomplete median clefts of both the lower lip (limited to the vermilion, with no muscle involvement) and upper lip (with muscle involvement), double labial frenulum and fusion of the upper gingival and upper labial mucosa (resulting in a shallow upper vestibular fold), in addition to poor dental alignment, and increased interdental distance between the lower and upper median incisors. Variable expressivity has been reported in an affected family.
Familial median cleft of the upper and lower lips
Moyamoya disease with early-onset achalasia is an exceedingly rare autosomal recessive neurological disorder reported only in a few families so far. It is characterized by the association of early onset achalasia (manifesting in infancy) with severe intracranial angiopathy that is consistent with moyamoya angiopathy in most cases (moyamoya disease; see this term). Other variable associated manifestations include hypertension, Raynaud phenomenon, and livedo reticularis.
Moyamoya disease with early-onset achalasia
CA-VA deficiency
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
Episodic ataxia type 8
Episodic ataxia with slurred speech is a rare hereditary ataxia characterized by recurrent episodes of ataxia with variable frequency and duration, associated with slurred speech, generalized muscle weakness and balance disturbance. Other symptoms may occur between episodes, including intention tremor, gait ataxia, mild dysarthria, myokymia, migraine and nystagmus.
Episodic ataxia with slurred speech
Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome is a rare, hereditary, cerebral malformation with epilepsy syndrome characterized by severe global developmental delay with no ability to walk and no verbal language, intractable epilepsy, partial agenesis of the corpus callosum and cerebellar vermis hypoplasia with posterior fossa cysts.
Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome
Autosomal dominant hereditary motor and sensory neuropathy type 2 with giant axons
CMT2 with giant axons
HMSN2 with giant axons
Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons is a rare subtype of axonal hereditary motor and sensory neuropathy characterized by distal muscle weakness and atrophy (principally of peroneal muscles) associated with distal sensory loss (tactile, vibration), pes cavus present since infancy or childhood, and axonal swelling with neurofilament accumulation on nerve biopsy. Other features may include hand muscle involvement, hypo/arreflexia, gait disturbances, muscle cramps, toe abnormalities and mild cardiomyopathy.
Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons
Male EBP disorder with neurological defects
MEND syndrome is a rare, genetic, syndromic, sterol biosynthesis disorder affecting males characterized by skin manifestations, including collodion membrane, ichthyosis, and patchy hypopigmentary lesions, associated with severe neurological involvement (e.g. intellectual disability, delayed psychomotor development, seizures, hydrocephalus, cerebellar/corpus callosum hypoplasia, Dandy-Walker malformation, hypotonia) and craniofacial dysmorphism (large anterior fontanelle, telecanthus, hypertelorism, microphthalmia, prominent nasal bridge, low-set ears, micrognathia, cleft palate). 2,3 toe syndactyly, polydactyly, and kyphosis, as well as ophthalmic, cardiac and urogenital anomalies may also be associated.
MEND syndrome
Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type is a rare, primary bone dysplasia characterized by intrauterine growth retardation, pre- and postnatal disproportionate short stature with short, rhizomelic limbs, facial dysmorphism, a short neck and small thorax. Hypotonia, cardiomegaly and global developmetal delay have also been associated. Several radiographic findings have been reported, including ribs with cupped ends, platyspondyly, square iliac bones, horizontal and trident acetabula, hypoplastic ischia, and delayed epiphyseal ossification.
Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type
Del(1)(p31p32)
Monosomy 1p31p32
1p31p32 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome 1, characterized by developmental delay, corpus callosum agenesis/hypoplasia and craniofacial dysmorphism, such as macrocephaly (caused by hydrocephalus or ventriculomegaly), low-set ears, anteverted nostrils and micrognathia. Urinary tract defects (e.g. vesicoureteral reflux, urinary incontinence) are also frequently associated. Other reported variable manifestations include hypotonia, tethered spinal cord, Chiari type I malformation and seizures.
1p31p32 microdeletion syndrome
Cold-induced sweating syndrome-hyperthermia spectrum
KIN
Systemic karyomegaly
Karyomegalic interstitial nephritis is a rare, genetic renal disease characterized by slowly progressive, chronic, tubulointerstitial nephritis, leading to end-stage renal disease before the age of 50 years, manifesting with mild proteinuria, glucosuria and, occasionally, urinary sediment abnormalities (mainly hematuria). Mild extrarenal manifestations, such as recurrent upper respiratory tract infections and abnormal liver function tests, may be associated. Renal biopsy reveals severe, chronic, interstitial fibrosis and tubular changes, as well as hallmark karyomegalic tubular epithelial cells which line the proximal and distal tubules and have enlarged, hyperchromatic nuclei.
Karyomegalic interstitial nephritis
Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering
Lichen myxedematosus
AML with t(6;9)(p23;q34)
Acute myeloid leukemia with t(6;9)(p23;q34) is a rare subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of poorly differentiated myeloid blasts in the bone marrow, blood, or other tissues in patients who present the t(6;9)(p23;q34) translocation. Frequently associated with multilineage bone marrow dysplasia, it usually presents with anemia, thrombocytopenia (often pancytopenia), and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). Basophilia, as well as poor response to chemotherapy, has been reported.
Acute myeloid leukemia with t(6;9)(p23;q34)
AML with t(9;11)(p22;q23)
Acute myeloid leukemia with t(9;11)(p22;q23)
AML with inv3(q21;q26.2) or t(3;3)(q21;q26.2)
Acute myeloid leukemia with inv(3)(q21;q26.2) or t(3;3)(q21;q26.2) is a subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of myeloid blasts in the bone marrow, blood and, rarely, other tissues. Bone marrow typically shows small, hypolobated megakaryocytes and multilineage dyslplasia. Patients typically present with leukocytosis, anemia, variable platelet counts and a variety of nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding, bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). High resistance to conventional chemotherapy is reported.
Acute myeloid leukemia with inv3(q21;q26.2) or t(3;3)(q21;q26.2)
Megakaryoblastic AML with t(1;22)(p13;q13)
Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) is a rare subtype of acute myeloid leukemia with recurrent cytogenetic abnormalities characterized by clonal proliferation of myeloid blasts with predominantly megakaryoblastic differentiation in the bone marrow and blood, often with extensive infiltration of the abdominal organs. It occurs typically in infants and usually presents with hepatosplenomegaly, anemia, thrombocytopenia and nonspecific symptoms related to ineffective hematopoiesis (fatigue, bleeding and bruising, recurrent infections). Myelofibrosis and fibrosis of other infiltrated organs is also characteristic of this disease.
Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)
AML with NPM1 somatic mutations
Acute myeloid leukemia with NPM1 somatic mutations is a subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of myeloid blasts harboring mutations of the NPM1 gene in the bone marrow, blood and other tissues. It is associated with multilineage dysplasia, involving the myeloid, monocytic, erythroid, and megakaryocytic cell lineages. Patients usually present with leukocytosis, thrombocytosis and nonspecific symptoms related to ineffective hematopoiesis (fatigue, bleeding and bruising, recurrent infections, bone pain), with frequent extramedullary involvement typically presenting as gingival hyperplasia and lymphadenopathy.
Acute myeloid leukemia with NPM1 somatic mutations
EGID
Primary eosinophilic gastrointestinal disease
Eosinophilic colitis
AR dRTA
Autosomal recessive distal RTA
Autosomal recessive distal renal tubular acidosis (AR dRTA) is an inherited form of distal renal tubular acidosis (dRTA; see this term) characterized by hypokalemic hyperchloremic metabolic acidosis. Deafness often occurs either early or later on in life but may be absent or never be diagnosed.
Autosomal recessive distal renal tubular acidosis
Familial BAV
Familial bicuspid aortic valve is a rare, genetic, aortic malformation defined as a presence of abnormal two-leaflet aortic valve in at least 2 first-degree relatives. It is frequently asymptomatic or may be associated with progressive aortic valve disease (aortic regurgitation and/or aortic stenosis, typically due to valve calcification) and a concomitant aortopathy (i.e. aortic dilation, aortic aneurysm and/or dissection).
Familial bicuspid aortic valve
EPM5
PME type 5
Progressive myoclonus epilepsy type 5
Progressive myoclonic epilepsy type 5
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly is a rare, central nervous system malformation syndrome characterized by progressive microcephaly with profound motor delay and intellectual disability, associated with hypertonia, spasticity, clonus, and seizures, with brain imaging revealing severe cerebral and cerebellar atrophy, and poor myelination.
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
DFNB101
glutaredoxin and cysteine rich domain containing 2
epidermal growth factor receptor pathway substrate 8
IL-21
Za11
interleukin 21
KIAA1839
RBM40
SNRNP65
U11/U12 snRNP 65K
RNA binding region (RNP1, RRM) containing 3
COUP-TFII
COUPTF2
COUPTFB
NF-E3
SVP40
nuclear receptor subfamily 2 group F member 2
Hlcd
IDDM19
MDA-5
MDA5
helicard
melanoma differentiation-associated gene 5
interferon induced with helicase C domain 1
adaptor related protein complex 1 subunit sigma 3
Hsal2
KIAA0360
ZNF795
spalt like transcription factor 2
PTPH1
protein tyrosine phosphatase, non-receptor type 3
HDV
Hepatitis D virus
Hepatitis delta is a rare hepatic disease characterized by variable degrees of acute hepatitis resulting from infection with the hepatitis delta virus. Occasionally it may present a benign course, but most frequently it manifests with severe liver disease that may include fulminant liver failure, hepatic decompensation and rapid progression to cirrhosis. All patients present concomitant hepatitis B virus infection and an increased risk of developing hepatocellular carcinoma has been reported.
Hepatitis delta
Dexamethasone-sensitive hypertension
FH-I
Familial hyperaldosteronism type 1
GRA
Glucocorticoid-remediable aldosteronism
Glucocorticoid-sensitive hypertension
Familial hyperaldosteronism type I (FH-I) is a rare heritable, glucocorticoid remediable form of primary aldosteronism (PA) characterized by early-onset hypertension, hyperaldosteronism, variable hypokalemia, low plasma renin activity (PRA), and abnormal production of 18-oxocortisol and 18-hydroxycortisol.
Familial hyperaldosteronism type I
XMP
epithelial membrane protein 2
HPRP4
HPRP4P
PRP4
PRP4/STK/WD splicing factor
Prp4p
SNRNP60
U4/U6 small nuclear ribonucleoprotein Prp4
pre-mRNA processing factor 4
spinocerebellar ataxia 32
RAD26L
ERCC excision repair 6 like 2
CALC
EFHA3
mitochondrial calcium uptake 1
COUP-TFI
COUPTF1
EAR-3
SVP44
TCFCOUP1
nuclear receptor subfamily 2 group F member 1
AIP1
ARMER
KIAA0069
ADP ribosylation factor like GTPase 6 interacting protein 1
Band_7 23-211 Keo4 (Interim) similar to C.elegans protein C42C1.9
Erlin-1
KE04
ER lipid raft associated 1
HumORF8
KIAA0055
UBPY
ubiquitin specific peptidase 8
KIAA1449
P80
WD repeat domain 48
ATPDase
NTPDase-1
ectonucleoside triphosphate diphosphohydrolase 1
arylsulfatase family member I
Bst1
GPI inositol-deacylase
post-GPI attachment to proteins 1
fibronectin leucine rich transmembrane protein 1
ZFR1
zinc finger RNA binding protein
Yip2d
receptor accessory protein 2
UDG2
cyclin O
Fetal acitretin/etretinate syndrome
Retinoid embryopathy
Acitretin/Etretinate embryopathy is a teratogenic disorder due to acitretin or etretinate exposure during the first trimester of pregnancy, carrying a risk of fetal malformations of approximately 20%, including central nervous system, craniofacial, ear, thymic, cardiac and limb anomalies.
Acitretin/etretinate embryopathy
CNTNAP
Caspr
neurexin 4
contactin associated protein 1
AC6
adenylate cyclase 6
collagen type XII proteoglycan
collagen type XII alpha 1 chain
prickle planar cell polarity protein 2
FH-II
FH2
Familial adrenal adenoma
Familial hyperaldosteronism type 2
Familial hyperaldosteronism type II (FH-II) is a heritable form of primary aldosteronism (PA) characterized by hypertension of varying severity, and non glucocticoid remediable hyperaldosteronism.
Familial hyperaldosteronism type II
LAS
lipoic acid synthetase
Hsp40
RSPH16B
Sis1
radial spoke 16 homolog B (Chlamydomonas)
DnaJ heat shock protein family (Hsp40) member B1
PKACa
protein kinase cAMP-activated catalytic subunit alpha
GC-SA3
guanylate cyclase 1 soluble subunit alpha 1
CAV
CAVA
carbonic anhydrase 5A
IPOA8
importin alpha 8
karyopherin subunit alpha 7
DDB1 and CUL4 associated factor 8
Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome is a rare, genetic, central nervous system malformation syndrome characterized by congenital, progressive microcephaly, neonatal to infancy-onset of severe, intractable seizures, and diffuse cerebral cortex and cerebellar vermis atrophy with mild cerebellar hemisphere atrophy, associated with profound global developmental delay. Hypotonia or hypertonia with brisk reflexes, variable dysmorphic facial features, ophthalmological signs (cortical visual impairment, nystagmus, eye deviation) and episodes of sudden extreme agitation caused by severe illness may also be associated.
Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency is a rare, syndromic intellectual disability characterized by intellectual disability of various severity, hypotonia, feeding difficulties, dysmorphic features, autism and behavioral issues. Growth retardation, congenital heart anomalies, gastrointestinal and genitourinary defects have been rarely associated.
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
DNMT3A-related overgrowth syndrome
Tatton-Brown-Rahman overgrowth syndrome
Tall stature-intellectual disability-facial dysmorphism syndrome
ADNP-related syndromic intellectual disability-autism spectrum disorder
HVDAS
Helsmoortel-Van Der Aa Syndrome
ADNP syndrome is a rare, syndromic intellectual disability characterized by intellectual disability of various severity, hypotonia, global developmental delay, severely delayed speech, behavioral problems, pain insensitivity, sleep problems, seizures, structural brain anomalies, dysmorphic features, visual problems and autism.
ADNP syndrome
gene point mutation. Macular degeneration and signs of brain atrophy and spinal cord compression have also been reported.
FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome
NGLY1 deficiency
NGLY1-CDDG
Alacrimia-choreoathetosis-liver dysfunction syndrome is a rare, genetic, inborn error of metabolism disorder characterized by global developmental delay, hypotonia, choreoathetosis, hypo-/alacrimia, and liver dysfunction which manifests with elevated liver transanimases and hepatocyte cytoplasmic storage material or vacuolization on liver biposy. Additional features reported include acquired microcephaly, hypo-/areflexia, seizures, peripheral neuropathy, intellectual and language/speech disability, additional ocular anomalies and EEG and brain imaging abnomalities.
Alacrimia-choreoathetosis-liver dysfunction syndrome
Multisystemic smooth muscle dysfunction syndrome is a rare, genetic, vascular disease characterized by congenital dysfunction of smooth muscle throughout the body, manifesting with cerebrovascular disease, aortic anomalies, intestinal hypoperistalsis, hypotonic bladder, and pulmonary hypertension. Congenital mid-dilated pupils non-reactive to light associated with a large, persistent patent ductus arteriosus are characteristic hallmarks of the disease.
Multisystemic smooth muscle dysfunction syndrome
Female infertility due to zona pellucida defect is a rare, genetic, female infertility disorder characterized by the presence of abnormal oocytes that lack a zona pellucida. Affected individuals are unable to conceive despite having normal menstrual cycles and sex hormone levels, as well as no obstructions in the fallopian tubes or defects of the uterus or adnexa.
Female infertility due to zona pellucida defect
Rare female infertility due to oocyte maturation defect
Severe intellectual disability-progressive spastic diplegia syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by intellectual disability, significant motor delay, severe speech impairment, early-onset truncal hypotonia with progressive distal hypertonia/spasticity, microcephaly, and behavioral anomalies (autistic features, aggression or auto-aggressive behavior, sleep disturbances). Variable facial dysmorphism includes broad nasal tip with small alae nasi, long and/or flat philtrum, thin upper lip vermillion. Visual impairment (strabismus, hyperopia, myopia) is commonly associated.
Severe intellectual disability-progressive spastic diplegia syndrome
GLOW syndrome
Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome is a rare, genetic, overgrowth syndrome characterized by global developmental delay, macrosomia with subsequent somatic overgrowth, bilateral cystic lung lesions, congenital nephromegaly and bilateral Wilms tumor. Craniofacial dysmorphism includes macrocephaly, frontal bossing, large anterior fontanelle, mild hypertelorism, ear pit, flat nasal bridge, anteverted nares and mild micrognathia. Additional features may include brain and skeletal anomalies, enlarged protuberant abdomen, fat pads on dorsum of feet and toes, and rugated soles with skin folds, as well as umbilical/inguinal hernia and autistic behavior.
Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome
Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome
SCAR23
Spinocerebellar ataxia autosomal recessive type 23
Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency is a rare, hereditary ataxia characterized by an early onset symptomatic generalized epilepsy, progressive cerebellar ataxia resulting in significant difficulties to walk or wheelchair dependency, and intellectual disability.
Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency
Autosomal recessive spinocerebellar ataxia type 15
SCAR15
Salih ataxia
Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency is an extremely rare, autosomal recessive, hereditary cerebellar ataxia disorder characterized by early onset of progressive, mild to moderate gait and limb ataxia, moderate to severe dysarthria, and nystagmus or saccadic pursuit, frequently associated with epilepsy, moderate intellectual disability, delayed speech acquisition, and hyporeflexia in the upper extremities. Hyperreflexia in the lower extremities may also be associated.
Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency
Chondromyxoid fibroma
Clear cell papillary renal cell carcinoma is a rare, indolent subtype of clear cell renal carcinoma, arising from epithelial cells in the renal cortex. It most frequently manifests with a well-circumscribed, well-encapsulated, unicentric, unilateral, small tumor that typically does not metastasize. Clinically it can present with flank or abdominal pain or hematuria, although most patients are usually asymptomatic at the time of diagnosis. Bilateral and/or multifocal presentation should raise the suspicion of von Hippel-Lindau syndrome.
Clear cell papillary renal cell carcinoma
Acquired cystic disease-associated renal cell carcinoma is a rare subtype of renal cell carcinoma, ocurring in the context of end-stage kidney disease and acquired cystic kidney disease, characterized by a usually well circumscribed, solid, multifocal, bilateral tumor with inter- or intracellular microlumen formation (leading to cribiform architecture). Tumors are often diagnosed incidentally in early stages, although complications caused by renal cysts (dull flank or abdominal pain, fever) or renal parenchymal bleeding may mask the underlying neoplastic process. Most have an indolent behavior.
Acquired cystic disease-associated renal cell carcinoma
Diaphragmatic spinal muscular atrophy type 2
SMARD2
Severe infantile axonal neuropathy with respiratory failure type 2
X-linked spinal muscular atrophy with respiratory distress
Spinal muscular atrophy with respiratory distress type 2 is a rare, genetic, motor neuron disease characterized by progressive early respiratory failure associated with diaphragm paralysis, distal muscular weakness, joint contractures, and axial hypotonia with preserved antigravity limb movements. Phenotype overlaps considerably with SMARD type 1 but is differentiated by a mutation in a different gene.
Spinal muscular atrophy with respiratory distress type 2
X-linked dHMN
X-linked distal spinal muscular atrophy
X-linked distal hereditary motor neuropathy
Deficiency of IL-36R antagonist
Deficiency of IL-36Ra
DITRA
Vasculitis due to DADA2
Vasculitis due to ADA2 deficiency is a rare, genetic, systemic and rheumatologic disease due to adenosine deaminase-2 inactivating mutations, combining variable features of autoinflammation, vasculitis, and a mild immunodeficiency. Variable clinical presentation includes chronic or recurrent systemic inflammation with fever, livedo reticularis or racemosa, early-onset ischemic or hemorrhagic strokes, peripheral neuropathy, abdominal pain, hepatosplenomegaly, portal hypertension, cutaneous polyarteritis nodosa, variable cytopenia and immunoglobulin deficiency.
Vasculitis due to ADA2 deficiency
B-K mole syndrome
FAMM-PC syndrome
FAMMM syndrome
Familial Clark nevus syndrome
Familial atypical mole syndrome
Familial atypical multiple mole melanoma-pancreatic carcinoma syndrome
Familial dysplastic nevus syndrome
Melanoma-pancreatic cancer syndrome
50) and a family history of melanoma as well as, in a subset of patients, an increased risk of developing pancreatic cancer (see this term) and other malignancies.
Familial atypical multiple mole melanoma syndrome
Dysostosis of genetic origin
Dysostosis of genetic origin with limb anomaly as a major feature
Genetic syndrome with limb reduction defects
Genetic syndrome with limb malformations as a major feature
Juvenile polyarthritis
Juvenile polyarticular arthritis
Polyarticular JIA
Polyarticular juvenile idiopathic arthritis
Rare genetic skeletal development disorder
Rare genetic bone development disorder
GPI1
hGPI1
phosphatidylinositol glycan anchor biosynthesis class Q
AC1
adenylate cyclase 1
BBS19
RAYL
intraflagellar transport 27
Magmas
TIMM16
Tim16
mitochondria associated protein involved in granulocyte macrophage colony stimulating factor signal transduction
presequence translocase associated motor 16
GUP2
MART-2
MART2
Skn
rasp
sit
ski
hedgehog acyltransferase
ATP binding cassette subfamily A member 5
NPHP18
NY-REN-58
centrosomal protein 83
FBHH
Familial benign hypercalcemia
Familial benign hypocalciuric hypercalcemia
Familial hypocalciuric hypercalcemia (FHH) is a generally asymptomatic genetic disorder of phosphocalcic metabolism characterized by lifelong moderate hypercalcemia along with normo- or hypocalciuria and elevated plasma parathyroid hormone (PTH) concentration.
Familial hypocalciuric hypercalcemia
pancreatic carboxypeptidase A
carboxypeptidase A1
methyltransferase like 23
UNC45
unc-45 myosin chaperone B
SRY-related HMG-box gene 11
SRY-box 11
ADNP homeobox 1
ADNP1
KIAA0784
activity dependent neuroprotector homeobox
DNA methyltransferase 3 alpha
CLIP-170
CLIP170
CYLN1
restin
CAP-Gly domain containing linker protein 1
solute carrier family 2 member 3
DustyPK
KIAA0472
RIP5
dual serine/threonine and tyrosine protein kinase
syntaxin 3
MCSP
PHGPx
phospholipid hydroperoxidase
glutathione peroxidase 4
DFNB102
chloride intracellular channel 5
Meis homeobox 2
KIAA1032
Munc13-1
unc-13 homolog A
S29
uS14
ribosomal protein S29
MIX17 homolog A
MIX17A
coiled-coil-helix-coiled-coil-helix domain containing 10
glutamine tRNA ligase
glutaminyl-tRNA synthetase
SET domain containing 5
PNG1
peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase
N-glycanase 1
zona pellucida glycoprotein 1
tyrosyl-DNA phosphodiesterase 2
rubicon
rundataxin
RUN and cysteine rich domain containing beclin 1 interacting protein
LAS1 like, ribosome biogenesis factor
NKA
Non-ketotic hyperglycinemia
Glycine encephalopathy (GE) is an inborn error of glycine metabolism characterized by accumulation of glycine in body fluids and tissues, including the brain, resulting in neurometabolic symptoms of variable severity.
Glycine encephalopathy
CRSP77
DRIP80
SRB4
TRAP80
mediator complex subunit 17
myr2
myosin IC
Hyperglycerolemia
Isolated glycerol kinase deficiency (GKD) is a very rare X-linked disorder of glycerol metabolism characterized biochemically by elevated plasma and urine glycerol levels, and clinically by variable neurometabolic manifestations, depending on the age of onset, and varying from a life-threatening childhood metabolic crisis to an asymptomatic adult form (infantile GKD, juvenile GKD, and adult GKD (see these terms)).
Isolated glycerol kinase deficiency
solute carrier family 26 member 8
septin 12
DNAHC1
HDHC7
HL-11
HL11
XLHSRF-1
dynein axonemal heavy chain 1
KIAA1601
SLAP
Sarcolemmal-associated protein
sarcolemma associated protein
Flegel disease
Hyperkeratosis lenticularis perstans
Idiopathic retinal perivasculitis
Idiopathic retinal vasculitis
Eales disease (ED) is an idiopathic, inflammatory retinal venous occlusive disease characterized by 3 stages: vasculitis, occlusion and retinal neovascularization, leading to recurrent vitreous hemorrhages and vision loss.
Eales disease
KIAA1354
kelch like family member 9
crystallin beta A2
KIAA1439
NFI-L
nuclear factor I A
AF-9
AF9
YEATS3
MLLT3, super elongation complex subunit
OST1
oligosaccharyltransferase 1 homolog (S. cerevisiae)
oligosaccharyltransferase complex subunit (non-catalytic)
ribophorin I
OTT
OTT1
one twenty-two
RNA binding motif protein 15
BSAC
KIAA1438
MAL
MKL
MRTF-A
basic, SAP and coiled-coil domain
megakaryocytic acute leukemia
myocardin-related transcription factor A
megakaryoblastic leukemia (translocation) 1
Pattern of inheritance in which a single mutated allele located on one of the 22 autosomes (non-sex chromosomes) is sufficient to express the phenotype.
autosomal dominant
Pattern of inheritance in which two mutated alleles of the same gene located on one of the 22 autosomes (non-sexual chromosomes) are needed to express the phenotype.
autosomal recessive
The combination of one or more genes and/or environmental factors contributes to the expression of the phenotype.
multigenic/multifactorial
Pattern of inheritance in which two mutated alleles on the X chromosome are needed to express the phenotype. The phenotype is expressed in hemizygous boys (having only one copy of the gene) and homozygous girls.
X-linked recessive
Pattern of inheritance in which a mutation in one of the mitochondrial genes is sufficient to express the phenotype. The transmission is exclusively maternal.
mitochondrial
Pattern of inheritance in which a single mutated allele on the X chromosome is sufficient to express the phenotype. The phenotype is more consistently and severely expressed in hemizygous boys (having only one copy of the gene) than in heterozygous girls.
X-linked dominant
The combination of mutated alleles of two or more genes is necessary to express the phenotype.
oligogenic
Pattern of inheritance in which a single mutated allele located on one of the 22 autosomes (non-sex chromosomes) suffices to express the phenotype, the phenotype of the homozygous individual being more severe, when both alleles are mutated.
semi-dominant
Pattern of inheritance in which a single mutated allele on the Y chromosome is sufficient to express the phenotype. The transmission is exclusively paternal.
Y-linked
Hereditary clinical entity whose mode of inheritance is unknown.
unknown inheritance
No information is available in the scientific literature on heredity of the clinical entity.
no inheritance data available
clinical entity without genetic inheritance.
not genetically inherited
Before birth.
antenatal
From birth to the fourth week of life.
neonatal
From the end of the fourth week to the 23rd month of life.
infancy
From 2 to 11 years.
childhood
From 12 to 18 years.
adolescent
From 19 to 65 years.
adult
After 65 years.
ederly
From birth to adulthood without peak of onset.
all ages
No information is available in the scientific literature on the age of onset of the first clinical manifestations.
no age of onset data available
Number of cases scaled up to the general population at a given time.
point prevalence
Number of newly diagnosed cases in a population in 1 year.
annual incidence
Number of cases observed at birth relative to the number of children born alive at a given moment.
birth prevalence
Number of cases presenting or having presented the clinical entity during their lifetime scaled up to the general population.
lifetime prevalence
Number of cases or family (ies) published in the literature.
cases/families
Number of cases published in the literature.
case
Number of family(ies) published in the literature.
family
Interval of prevalence or annual incidence of between 1 and 5 cases per 10,000 in the population.
Interval of prevalence or annual incidence of between 1 and 9 cases per 1,000,000 in the population.
Interval of prevalence or annual incidence of between 1 and 9 cases per 100,000 in the population.
Interval of prevalence or annual incidence of between 6 and 9 cases per 10,000 in the population.
Interval of prevalence or annual incidence of less than 1 case per 1,000,000 in the population.
Interval of prevalence or annual incidence greater than 1 case per 1,000 in the population.
No information is available in the scientific literature to inform prevalence or annual incidence.
Unknown_epidemiological_range
Africa
Europe
Oceania
North America
Latin America
South East Asia
Worldwide
Not defined
Albania
Algeria
Acropigmentation of Dohi
Acropigmentation of Dohi is a genodermatosis characterised by the presence of hyperpigmented and hypopigmented macules, principally located on the extremities and limbs.
Dyschromatosis symmetrica hereditaria
Argentina
Armenia
Australia
Austria
Azerbaijan
Bahrain
Bangladesh
Belarus
Belgium
Belize
Bolivia
Bosnia and Herzegovina
Brazil
Brunei Darussalam
Bulgaria
Canada
Chile
China
Colombia
Costa rica
Croatia
Cuba
Cyprus
Czech Republic
Denmark
Dominican Republic
Ecuador
Egypt
El Salvador
Eritrea
Estonia
Faroe Islands
Finland
France
French Polynesia
Georgia
Germany
Greece
Greenland
Guadeloupe
Guatemala
Guyana
Haiti
Honduras
Hong Kong
Hungary
Iceland
India
Indonesia
Iran, Islamic Republic of
Iraq
Ireland
Israel
Italy
Jamaica
Japan
Jordan
Kenya
Korea, Republic of
Kuwait
Latvia
Lebanon
Lesotho
Libyan Arab Jamahiriya
Lithuania
Luxembourg
Macedonia, the former Yugoslav Republic of
Malaysia
Malta
Martinique
Mexico
Moldova, Republic of
Mongolia
Morocco
Nepal
Netherlands
New Zealand
Nicaragua
Nigeria
Norway
Oman
Pakistan
Palestinian Territory, occupied
Panama
Paraguay
Peru
Philippines
Poland
Portugal
Puerto rico
Qatar
Reunion
Romania
Russian Federation
Saudi Arabia
Senegal
Serbia
Sierra leone
Singapore
Slovakia
Slovenia
South Africa
Spain
Sri Lanka
Sudan
Sweden
Switzerland
Taiwan, Province of China
Tanzania, United Republic of
Thailand
Togo
Tunisia
Turkey
Uganda
Ukraine
United Arab Emirates
United Kingdom
United States
Uruguay
Uzbekistan
Venezuela
Viet Nam
Zimbabwe
A mutation of a gene in a germ cell that alters the function of the corresponding protein is sufficient to cause the disorder and can be transmitted to the offspring.
disease-causing germline mutation(s) (loss of function) in
A mutation of a gene in a germ cell that results in a new function of the corresponding protein is sufficient to cause the disorder and can be transmitted to the offspring.
disease-causing germline mutation(s) (gain of function) in
Chromosomal region associated with a hereditary disorder but without any precision on the possible associated gene.
disorder-associated locus
DNA sequence translated into protein.
gene with protein product
RNA transcript not translated into protein.
non coding RNA
HO57
ATPase H+ transporting V1 subunit B2
TUWD12
POC1 centriolar protein B
JKTBP
laAUF1
heterogeneous nuclear ribonucleoprotein D like
DIFF48
KIAA0386
MYONAP
myogenesis-related and NCAM-associated protein homolog (chicken)
RHO family interacting cell polarization regulator 2
TI-VAMP
VAMP-7
vesicle associated membrane protein 7
KDM3C
KIAA1380
jumonji domain containing 1C
JM1
coiled-coil domain containing 22
alpha-2-macroglobulin like 1
C21
DC42
IRA1
TBLR1
transducin beta like 1 X-linked receptor 1
BPEG
KIAA1297
SPEGalpha
SPEGbeta
striated muscle preferentially expressed protein kinase
SPEG complex locus
DPZF
ODA-8S
zinc finger and BTB domain containing 20
laminin subunit alpha 1
transmembrane protein 98
KIAA1577
zinc finger SWIM-type containing 6
FBX14
FBXO14
Fbx31
F-box protein 31
protein tyrosine phosphatase, receptor type F
FEZ family zinc finger 1
ANILLIN
Scraps
scra
anillin actin binding protein
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_444490 with label: Familial chylomicronemia syndrome
coiled-coil domain containing 151
GAP1M
RAS p21 protein activator 2
COD
Sm-B/B'
SmB/SmB'
snRNP-B
small nuclear ribonucleoprotein polypeptides B and B1
CLP1-related pontocerebellar hypoplasia
PCH10
Pontocerebellar hypoplasia type 10 is a rare, genetic, pontocerebellar hypoplasia subtype characterized by severe psychomotor developmental delay, progressive microcephaly, progressive spasticity, seizures, and brain abnormalities consisting of mild atrophy of the cerebellum, pons and corpus callosum and cortical atrophy with delayed myelination. Patients may present dysmorphic facial features (high arched eyebrows, prominent eyes, long palpebral fissures and eyelashes, broad nasal root, and hypoplastic alae nasi) and an axonal sensorimotor neuropathy.
Pontocerebellar hypoplasia type 10
Williams-Campbell syndrome
Angelman syndrome due to a point mutation
Angelman syndrome due to imprinting defect in 15q11-q13
Mild PRPP synthetase superactivity
Mild PRPS1 superactivity
Mild phosphoribosylpyrophosphate (PRPP) synthetase superactivity is the mild and late-onset form of PRPP synthetase superactivity (see this term), an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, leading to urolithiasis and gout. This form is not associated with any neuropathy or central nervous system (CNS) disorders.
Mild phosphoribosylpyrophosphate synthetase superactivity
Severe PRPP synthetase superactivity
Severe PRPS1 superactivity
Severe phosphoribosylpyrophosphate (PRPP) synthetase superactivity is the severe and early-onset form of PRPP synthetase superactivity (see this term), an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, that is characterized by urolithiasis, gout and neurodevelopmental anomalies.
Severe phosphoribosylpyrophosphate synthetase superactivity
Wolfram-like syndrome is a rare endocrine disease characterized by the triad of adult-onset diabetes mellitus, progressive hearing loss (usually presenting in the first decade of life and principally of low to moderate frequencies), and/or juvenile-onset optic atrophy. Psychiatric (i.e. anxiety, depression, hallucinations) and sleep disorders, the only neurologic abnormalities observed in this disease, have been reported in rare cases. Unlike Wolfram syndrome, patients with Wolfram-like syndrome do not report endocrine or cardiac findings.
Wolfram-like syndrome
Hirata disease
Insulin autoimmune syndrome
Autosomal dominant late-onset Parkinson disease
LOPD
Hereditary late-onset Parkinson disease (LOPD) is a form of Parkinson disease (PD), characterized by an age of onset of more than 50 years, tremor at rest, gait complaints and falls, bradykinesia, rigidity and painful cramps. Patients usually present a low risk of developing non motor symptoms, dystonia, dyskinesia and levodopa-induced dyskinesia (LID).
Hereditary late-onset Parkinson disease
Nephropathic infantile cystinosis is the most common and severe form of cystinosis (see this term), a metabolic disease characterized by an accumulation of cystine inside the lysosomes that causes damage in different organs and tissues, particularly in the kidneys and eyes.
Nephropathic infantile cystinosis
Intermediate cystinosis
Juvenile cystinosis
Nephropathic juvenile cystinosis is the intermediate form, in regards to severity and age of onset, of cystinosis (see this term), a metabolic disease characterized by an accumulation of cystine inside the lysosomes that causes damage in different organs and tissues, particularly in the kidneys and eyes.
Juvenile nephropathic cystinosis
Adult-onset cystinosis
Non-nephropathic cystinosis
Ocular cystinosis is the benign, adult form of cystinosis (see this term), a metabolic disease characterized by an accumulation of cystine crystals in the cornea and conjunctiva responsible for tearing and photophobia and associated with no other additional manifestations.
Ocular cystinosis
PPI-REE
PPI-responsive esophageal eosinophilia
PPIRee
Proton-pump inhibitor-responsive esophageal eosinophilia (PPI-REE) is a rare, gastroenterologic disease characterized by typical clinical, endoscopic and histological features of eosinophilic oesophagitis (i.e. symptomatic oesophageal dysfunction associated with eosinophil-predominant mucose infiltrate) which completely remits upon proton pump inhibitor therapy.
Proton-pump inhibitor-responsive esophageal eosinophilia
Non-tuberculous mycobacterial lung disease
Pulmonary non-tuberculous mycobacterial infection
Renal agenesis (RA) is a form of renal tract malformation characterized by the complete absence of development of one or both kidneys (unilateral RA or bilateral RA respectively; see these terms), accompanied by absent ureter(s).
Renal agenesis
Maternal riboflavin deficiency is a rare, genetic disorder of metabolite absorption or transport characterized by persistently decreased riboflavin serum levels due to a primary genetic defect in the mother and which leads to clinical and biochemical findings consistent with a secondary, life-threatening, transient multiple acyl-CoA dehydrogenase deficiency (MADD) in the newborn. The mother usually presents hyperemesis gravidarum in the absence of other features of riboflavin deficiency, such as skin lesions, jaundice, pruritus, sore mucous membranes, visual disturbances.
Maternal riboflavin deficiency
GEKA
Generalized eruptive keratoacanthomas of Grzybowski
Grzybowski syndrome
Generalized eruptive keratoacanthoma (GEKA) is rare variant of keratoacanthoma (KA) that affects the skin and mucous membranes and which is characterized by a sudden generalized eruption of severely pruritic, hundreds to thousands of small follicular papules, often with a central keratotic plug.
Generalized eruptive keratoacanthoma
Familial isolated trichomegaly is a rare genetic hair anomaly characterized by a prolonged anagen phase of the eyelash hairs, leading to extreme eyelash growth that may result in corneal irritation. Increased growth of hair on other parts of the face (eyebrows, cheeks, forehead) and/or the body (chest, arms, legs) may be associated.
Familial isolated trichomegaly
fibroblast growth factor 5
Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome
Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome is a rare, syndromic intellectual disability syndrome characterized by cortical blindness, different types of seizures, intellectual disability with limited or absent speech, and dysmorphic facial features. Brain imaging typically shows mild pontine hypoplasia, hypoplasia of the corpus callosum and atrophy in the occipital region.
Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome
Broad-betalipoproteinemia
Dyslipidemia type 3
Familial dysbetalipoproteinemia
Familial hyperlipoproteinemia type 3
HLP type 3
Hyperlipidemia type 3
Remnant disease
Hyperlipoproteinemia (HLP) type 3 is a rare combined hyperlipidemia characterized by high levels of cholesterol and triglycerides, transported by intermediate density lipoproteins (IDLs), and a high risk of premature atherosclerosis and cardiovascular disease.
Hyperlipoproteinemia type 3
FDLAB syndrome
Facial dysmorphism-lens dislocation-anterior segment abnormalities-nontraumatic conjunctive cysts syndrome
Traboulsi syndrome
Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome is a syndromic developmental defect of the eye characterized by dislocated or subluxated crystalline lenses, anterior segment abnormalities, and distinctive facial features such as flat cheeks and a prominent, beaked nose. Affected individuals may develop nontraumatic conjunctival cysts, also referred to as filtering blebs.
Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome
Monosomy 13q12.3
13q12.3 microdeletion syndrome is a rare chromosomal anomaly characterized by moderate intellectual disability, speech delay, postnatal microcephaly, eczema or atopic dermatitis, characteristic facial features (malar flattening, prominent nose, underdeveloped alae nasi, smooth philtrum, and thin vermillion of the upper lip), and reduced sensitivity to pain.
13q12.3 microdeletion syndrome
SCAR16
Spinocerebellar ataxia autosomal recessive type 16
Autosomal recessive cerebellar ataxia due to STUB1 deficiency is a rare hereditary ataxia characterized by progressive truncal and limb ataxia resulting in gait instability. Dysarthria, dysphagia, nystagmus, spasticity of the lower limbs, mild peripheral sensory neuropathy, cognitive impairment and accelerated ageing have also been associated.
Autosomal recessive cerebellar ataxia due to STUB1 deficiency
PRKAR1B-related neurodegenerative dementia with intermediate filaments is a rare, genetic neurodegenerative disease characterized by dementia and mild parkinsonism with poor levodopa response. Presenting clinical manifestations are memory problems, short attention span, disorientation, language impairment, rigidity, bradykinesia, postural instability and behavioral changes, including apathy, anxiety and delusions.
PRKAR1B-related neurodegenerative dementia with intermediate filaments
Xia-Gibbs syndrome
AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome is a rare, syndromic intellectual disability characterized by hypotonia, developmetal delay, absent or severly delayed speech development, intellectual disability, obstructive sleep apnea, mild dysmorphic facial features and behavioral abnormalities. Epilepsy, ataxia and nystagmus have also been reported.
AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome
DST-related epidermolysis bullosa simplex
EBS-AR BP230
Epidermolysis bullosa simplex due to BP230 deficiency is a rare, hereditary, basal epidermolysis bullosa simplex characterized by mild, predominantly acral, trauma-induced skin fragility, resulting in blisters. Blisters mostly affect the feet, including the dorsal side, and are often several centimetres big.
Epidermolysis bullosa simplex due to BP230 deficiency
EBS-AR exophilin 5
Epidermolysis bullosa simplex due to exophilin 5 deficiency is a rare, hereditary, basal epidermolysis bullosa simplex characterized by mild, generalized trauma-induced scale crusts and intermittent blistering, sometimes combined with erosions and bleeding, recovering with slight scarring and post-inflammatory hyperpigmentation. Clinical symptoms improve with age.
Epidermolysis bullosa simplex due to exophilin 5 deficiency
PFE
Primary retention of teeth
Primary failure of tooth eruption
Dystonia-aphonia syndrome is a rare, genetic, persistent combined dystonia disorder characterized by slowly progressive, severe, caudo-rostrally spreading generalized dystonia with prominent facial and oro-mandibular involvement leading to severe anarthria and/or aphonia, swallowing difficulties, and gait disturbances. Additional manifestations include slowed horizontal saccades, subclinical epilepsy, photic myoclonus, oral hypertrophic changes (e.g. gingival or lingual hyperplasia), as well as delayed milestones and cognitive impairment.
Dystonia-aphonia syndrome
use http://www.orpha.net/ORDO/Orphanet_3020 with label: Ramsay Hunt syndrome
Hsh155
PRPF10
Prp10
SAP155
SF3b155
splicing factor 3b subunit 1
SSAT
diamine N-acetyltransferase 1
spermidine/spermine N1-acetyltransferase 1
enamel matrix protein
ameloblastin
transmembrane protein 240
HIF-1
HYPB
KIAA1732
KMT3A
SET domain containing 2
DT1P1A10
WGG motif containing 1
WGG1
TSR2, ribosome maturation factor
40S ribosomal protein S28
S28
eS28
ribosomal protein S28
PDIB1
calmitine
calsequestrin 1, fast-twitch, skeletal muscle
calsequestrin 1
VNUT
solute carrier family 17 member 9
ATP(CTP):tRNA nucleotidyltransferase
CCA-adding enzyme
CCA1
CGI-47
MtCCA
tRNA nucleotidyl transferase 1
major histocompatibility complex, class I, C
CT76
cancer/testis antigen 76
synaptonemal complex central element protein 1
BCNG-1
HAC-2
hyperpolarization activated cyclic nucleotide gated potassium channel 1
INDY
NACT
solute carrier family 13 member 5
Kv2.1
potassium voltage-gated channel subfamily B member 1
Hyperornithinemia
Hyperornithinemia-gyrate atrophy of choroid and retina syndrome
Ornithine aminotransferase deficiency
Gyrate atrophy of the choroid and retina (GACR) is a very rare, inherited retinal dystrophy, characterized by progressive chorioretinal atrophy, myopia and early cataract.
Gyrate atrophy of choroid and retina
leiomodin 3
UNQ655
ubiquinol-cytochrome c reductase complex assembly factor 3
N-Deacetylase-N-sulfotransferase 1
NST1
[Heparan sulfate]-glucosamine N-sulfotransferase 1
heparan sulfate/heparin GlcNAc N-deacetylase/GlcN N-sulfotransferase 1
N-deacetylase and N-sulfotransferase 1
Genetic craniofacial cleft
Genetic facial cleft
S20
uS10
ribosomal protein S20
HHH syndrome
ORNT1 deficiency
Ornithine carrier deficiency
Ornithine translocase deficiency
Triple H syndrome
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (triple H syndrome) is a disorder of urea cycle metabolism characterized by either a neonatal-onset with manifestations of lethargy, poor feeding, vomiting and tachypnea or, more commonly, presentations in infancy, childhood or adulthood with chronic neurocognitive deficits, acute encephalopathy and/or chronic liver dysfunction.
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
KIAA1771
ZIR2
dedicator of cytokinesis 7
CBP-interacting protein 3
CIP3
EAP2
OIP2
Opa interacting protein 2
RRP43
Rrp43p
exosome component 8
Bilirubin encephalopathy
Kernicterus
Kernicterus spectrum disorder
Primary hyperoxaluria is a rare disorder of glycoxylate metabolism characterized by an excess of oxalate resulting in manifestations ranging from occasional renal stones, recurrent nephrolithiasis and nephrocalcinosis to end-stage renal disease and systemic oxalosis. Presenting symtoms may commence from the neonatal period to adulthood. Three different types are well recognized: primary hyperoxaluria type 1, type 2 and type 3 (see these terms).
Primary hyperoxaluria
3.5 mM) from birth and associated with major hyperparathyroidism.
Neonatal severe primary hyperparathyroidism
BCD
Bietti crystalline corneoretinal dystrophy
Bietti crystalline retinopathy
Bietti's crystalline dystrophy (BCD) is a rare progressive autosomal recessive tapetoretinal degeneration disease, occurring in the third decade of life, characterized by small sparkling crystalline deposits in the posterior retina and corneal limbus in addition to sclerosis of the choroidal vessels and manifesting as nightblindness, decreased vision, paracentral scotoma, and, in the end stages of the disease, legal blindness.
Bietti crystalline dystrophy
CAH
Congenital adrenal hyperplasia (CAH) is an inherited endocrine disorder caused by a steroidogenic enzyme deficiency that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations, depending of the type and the severity of the disease.
Congenital adrenal hyperplasia
PUR-ALPHA
PUR1
PURALPHA
purine rich element binding protein A
RGS-PX2
sorting nexin 14
radial fiber and mitotic spindle
radmis
cytoskeleton associated protein 2 like
Esophageal carcinoma, salivary gland type
Carcinoma of esophagus, salivary gland type
Undifferentiated esophageal carcinoma
Undifferentiated carcinoma of esophagus
Gastric squamous cell carcinoma
Squamous cell carcinoma of stomach is a rare epithelial tumour of stomach, defined histropathologically as keratinizing cell masses with pearl formation, mosaic pattern of cell arrangement, intercellular bridges, and high concentrations of sulphydryl or disulphide bonds, arising directly from gastric mucosa, without esophageal involvement. It is characterized by preferential location in the upper third of the stomach, high probability of lymphovascular and serosal invasion and late onset of clinical symptoms associated with poor prognosis including nonspecific symptoms of abdominal pain, dysphagia, vomiting, melena or hematochezia, haematemesis and weight loss.
Squamous cell carcinoma of the stomach
Proline oxidase deficiency
Hyperprolinemia type 1
KIF10
PPP1R61
protein phosphatase 1, regulatory subunit 61
centromere protein E
DIB1
DIM1
HsT161
SNRNP15
U5-15kD
similar to S. pombe dim1+
thioredoxin like 4A
syntaxin 1B
SDR2E1
TDPGD
short chain dehydrogenase/reductase family 2E, member 1
TDP-glucose 4,6-dehydratase
SAS-6
SAS6
SAS-6 centriolar assembly protein
EWI-3
immunoglobulin superfamily member 3
POT1 and TIN2 organizing protein
Pip1
Ptop
TIN2 interacting protein 1
Tint1
Tpp1
ACD, shelterin complex subunit and telomerase recruitment factor
ASK2
MAPKKK6
MEKK6
apoptosis signal regulating kinase 2
mitogen-activated protein kinase kinase kinase 6
ACADM deficiency
Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency
MCAD deficiency
MCADD
Medium chain acyl-coenzyme A dehydrogenase deficiency
Medium chain acyl-CoA dehydrogenase (MCAD) deficiency (MCADD) is an inborn error of mitochondrial fatty acid oxidation characterized by a rapidly progressive metabolic crisis, often presenting as hypoketotic hypoglycemia, lethargy, vomiting, seizures and coma, which can be fatal in the absence of emergency medical intervention.
Medium chain acyl-CoA dehydrogenase deficiency
HSPC264
WD repeat domain 73
formin 2
Sotos syndrome 2
Malan overgrowth syndrome is a multiple congenital anomalies syndrome characterized by moderate postnatal overgrowth, macrocephaly, craniofacial dysmorphism (including high forehead and anterior hairline, downslanting palpebral fissures, prominent chin), developmental delay, and intellectual disability. Additional variable manifestations include unusual behavior, with or without autistic traits, as well as ocular (e.g. strabismus, nystagmus, optic disc pallor/hypoplasia), gastrointestinal (e.g. vomiting, chronic diarrhea, constipation), musculoskeletal (e.g. scoliosis and pectus excavatum), hand/foot (e.g. long, tapered fingers) and central nervous system (e.g. slightly enlarged ventricles) anomalies.
Malan overgrowth syndrome
Secondary PAP
Secondary pulmonary alveolar proteinosis
SCD syndrome
Semicircular canal dehiscence (SCD) syndrome is a rare otorhinolaryngologic disease characterized by the uni- or bilateral dehiscence of the bone(s) overlying the superior (most common), lateral or posterior semicircular canal(s). Patients present audiological (autophony, aural fullness, conductive hearing loss, pulsatile tinnitus) and/or vestibular symptoms (sound or pressure-evoked oscillopsia or vertigo, characteristic vertical-torsional eye movements), depending on which semicircular canal is affected. Posterior SCD syndrome is associated with high-riding jugular bulb and fibrous dysplasia, while lateral SCD syndrome is associated with chronic otitis media and cholesteatoma, with or without audiological and vestibular symptoms.
Semicircular canal dehiscence syndrome
G protein-coupled receptor 101
Alpha-1,4-glucosidase acid deficiency, late-onset
GSD due to acid maltase deficiency, late-onset
GSD type 2, late-onset
GSD type II, late-onset
Glycogen storage disease type 2, late-onset
Glycogen storage disease type II, late-onset
Glycogenosis type 2, late-onset
Glycogenosis type II, late-onset
Pompe disease, late-onset
Glycogen storage disease due to acid maltase deficiency, late onset (AMDL), a form of Glycogen storage disease due to acid maltase deficiency (AMD), a degenerative metabolic myopathy particularly affecting respiratory and skeletal muscles, is characterized by an accumulation of glycogen in lysosomes.
Glycogen storage disease due to acid maltase deficiency, late-onset
MAGP2
MP25
microfibril-associated glycoprotein-2
microfibril associated protein 5
DYT24
Dystonia 24
Cranio-cervical dystonia with laryngeal and upper-limb involvement is a rare genetic, isolated dystonia characterized by a variable combination of cervical dystonia with tremor, blepharospasm, oromandibular and laryngeal dystonia. Dystonia progresses slowly and might spread to become segmental. Arm tremor and myoclonic jerks in the arms or neck have also been reported.
Cranio-cervical dystonia with laryngeal and upper-limb involvement
Dystonia 23
Adult-onset cervical dystonia, DYT23 type is a rare, genetic, isolated dystonia characterized by adult-onset, non-progressive, focal cervical dystonia typically manifesting with torticollis and occasionally accompanied by mild head tremor and essential-type limb tremor.
Adult-onset cervical dystonia, DYT23 type
Visual snow syndrome is a rare neurologic disease characterized by persistent continuous bilateral visual experience of flickering snow-like dots throughout the visual field in association with other visual (including palinopsia, enhanced entopic phenomena, nyctalopia, photophobia and photopsia) and non-visual (migraine with or without aura, tinnitus and occasionally tremor) symptoms.
Visual snow syndrome
Severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome
TMBTS
Temple-Baraitser syndrome is a rare developmental anomalies syndrome characterized by severe intellectual disability and distal hypoplasia of digits, particularly of thumbs and halluces, with nail aplasia or hypoplasia. Facial dysmorphism with a pseudo-myopathic appearance has been reported, which may include high anterior hairline or low frontal hairline with central cowlick, flat forehead, ptosis, hypertelorism, downslanting palpebral fissures, epicanthal folds, ears with thick helices, broad depressed nasal bridge with anteverted nares, short columella, long philtrum, high-arched palate, broad mouth with thick vermilion border of the upper or the lower lip and downturned corners. Marked hypotonia, seizures and global developmental delay have been reported, associated with autistic spectrum disorder manifestations in some patients.
Temple-Baraitser syndrome
Bleeding disorder due to calcium- and DAG-regulated guanine exchange factor-1 deficiency
Bleeding disorder due to CalDAG-GEFI deficiency is a rare hematologic disease due to defective platelet function and characterized by mucocutaneous bleeding starting in infancy (around 18 months of age), presenting with prolonged and severe epistaxis, hematomas and bleeding after tooth extraction. Massive menorrhagia and chronic anemia have also been reported.
Bleeding disorder due to CalDAG-GEFI deficiency
SCID due to CTPS1 deficiency
Severe combined immunodeficiency (SCID) due to CTPS1 deficiency is a rare primary immunodeficiency disorder due to impaired capacity of activated T- and B-cells to proliferate in response to antigen receptor-mediated activation characterized by early-onset, severe, persistent and/or recurrent viral infections due to Epstein-Barr virus (EBV) and Varicella Zoster virus (VZV, including generalized varicella)), as well as recurrent sino-pulmonary bacterial infections due to encapsulated pathogens.
Severe combined immunodeficiency due to CTPS1 deficiency
Culler-Jones syndrome
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome is a rare, genetic developmental defect during embryogenesis disorder characterized primarily by congenital hypopituitarism and/or postaxial polydactyly. It can be associated with short stature, delayed bone age, hypogonadotropic hypogonadism, and/or midline facial defects (e.g. hypotelorism, mild midface hypoplasia, flat nasal bridge, and cleft lip and/or palate). Hypoplastic anterior pituitary and ectopic posterior pituitary lobe are frequent findings on MRI examination.
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
Transient abnormal myelopoiesis
Transient myeloproliferative disease
Transient myeloproliferative syndrome
Iminoglycinuria is a metabolic disorder resulting from defective renal tube reabsorption of proline, hydroxyproline and glycine. The prevalence is estimated at around 1 in 15 000. The disorder is usually asymptomatic and is identified fortuitously by detection of increased levels of the imino acids and glycine in the urine. It is transmitted as an autosomal recessive trait.
Iminoglycinuria
KWWH type IV
Keratoderma with woolly hair type IV
Woolly hair-palmoplantar hyperkeratosis syndrome
Woolly hair-palmoplantar keratoderma syndrome is a very rare, hereditary epidermal disorder characterized by hypotrichosis/woolly scalp hair, sparse body hair, eyelashes and eyebrows, leukonychia, and striate palmoplantar keratoderma (more severe on the soles than the palms), which progressively worsens with age. Pseudo ainhum of the fifth toes was also reported. Although woolly hair-palmoplantar keratoderma syndrome shares clinical similarities with both Naxos disease and Carvajal syndrome, cardiomyopathy is notably absent.
Woolly hair-palmoplantar keratoderma syndrome
Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency
gene. Full maturation of all three lineages in the bone marrow and refractoriness to in vivo rhG-CSF treatment are associated.
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
COXPD20
Combined oxidative phosphorylation defect type 20 is a rare mitochondrial oxidative phosphorylation disorder characterized by variable combination of psychomotor delay, hypotonia, muscle weakness, seizures, microcephaly, cardiomyopathy and mild dysmorphic facial features. Variable types of structural brain anomalies have also been reported. Biochemical studies typically show decreased activity of mitochondrial complexes (mainly complex I).
Combined oxidative phosphorylation defect type 20
COXPD21
Combined oxidative phosphorylation defect type 21 is a rare mitochondrial disease characterized by axial hypotonia with limb hypertonia, developmental delay, hyperlactatemia, central nervous system anomalies visible on magnetic resonance imaging (e.g. corpus callosum hypoplasia, lesions of the globus pallidus) and multiple deficiency of the mitochondrial respiratory chain complexes in muscle tissue, but not in fibroblasts or liver.
Combined oxidative phosphorylation defect type 21
RNF168 deficiency
Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome
RIDDLE syndrome
Rare genetic odontal or periodontal disorder
Anti-IgLON5 disease
Anti-IgLON5 syndrome
Autoimmune encephalopathy with parasomnia and obstructive sleep apnea is a rare neurologic disorder characterized by a unique non-REM and REM parasomnia with sleep breathing dysfunction, gait instability and repetitive episodes of respiratory insufficiency, as well as autoantibodies against IgLON5. Patients may present stridor, chorea, limb ataxia, abnormal ocular movements, and bulbar symptoms (i.e. dysphagia, dysarthria, episodic central hypoventilation) with normal brain MRI. Excessive day sleepiness and cognitive deterioration have also been reported.
Autoimmune encephalopathy with parasomnia and obstructive sleep apnea
Short stature-kyphosis-hypoplasia of basal ilia-cone epiphyses-facial dysmorphism syndrome
Cono-spondylar dysplasia is a rare genetic primary bone dysplasia disorder characterized by early-onset severe lumbar kyphosis, marked brachydactyly and irregular, pronounced cone epiphyses of the metacarpals and phalanges. Additional reported features include developmental delay, intellectual disability, hypotonia, epileptic seizures and mild facial dysmorphism (incl. long and thin or square-shaped face, slight mid-face hypoplasia, hypertelorism, epicanthic folds, low-set ears, anteverted nostrils). Radiographic findings also reveal hypoplasia of iliac wings and anterior defect of vertebral bodies.
Cono-spondylar dysplasia
LonHS
PIM1
hLON
lon peptidase 1, mitochondrial
. (However, the majority of patients carrying an HPAH mutation do not develop PAH). Idiopathic pulmonary arterial hypertension (IFPAH; see this term) refers to those cases of pulmonary arterial hypertension in which etiology remains unknown .
Idiopathic and/or familial pulmonary arterial hypertension
eIF-1A
eIF-4C
eukaryotic translation initiation factor 1A X-linked
crumbs 2, cell polarity complex component
CAMII
prepro-calmodulin 2
calmodulin 2
Sak
polo like kinase 4
DFNA67
KIAA0772
ORP-2
oxysterol binding protein like 2
PKC-mu
PKCM
PKD
protein kinase D1
cytochrome c oxidase assembly factor 6
3-Phosphoglycerate dehydrogenase deficiency
Hereditary clear cell renal cell adenocarcinoma
Hereditary clear cell renal cell carcinoma (ccRCC) is a hereditary renal cancer syndrome defined as development of ccRCC in two or more family members without evidence of constitutional chromosome 3 translocation, von Hippel-Lindau disease or other tumor predisposing syndromes associated with ccRCC, such as tuberous sclerosis or Birt-Hogg-Dubbé syndrome.
Hereditary clear cell renal cell carcinoma
collagen type XXV alpha 1 chain
RIG-I
RNA helicase RIG-I
retinoic acid inducible gene I
DExD/H-box helicase 58
centrosomal protein 120
BAH
CASQ2BP1
HAAH
JCTN
humbug
junctate
junctin
aspartate beta-hydroxylase
NUDR
SPN
ZMYND5
DEAF1, transcription factor
ATP/GTPbinding protein
HEAB
hClp1
polyribonucleotide 5'-hydroxyl-kinase
cleavage and polyadenylation factor I subunit 1
Hyperthermia of anesthesia
Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle that presents as a hypermetabolic response to potent volatile anesthetic gases such as halothane, sevoflurane, desflurane and the depolarizing muscle relaxant succinylcholine, and rarely, to stresses such as vigorous exercise and heat.
Malignant hyperthermia of anesthesia
protein kinase cAMP-dependent type I regulatory subunit beta
AT-hook DNA binding motif containing 1
SLAC2-B
synaptotagmin-like homologue lacking C2 domains b
exophilin 5
Spinocerebellar ataxia type 40 (SCA40) is a very rare subtype of autosomal dominant cerebellar ataxia type 1, characterized by the adult-onset of unsteady gait and dysarthria, followed by wide-based gait, gait ataxia, ocular dysmetria, intention tremor, scanning speech, hyperreflexia and dysdiadochokinesis.
Spinocerebellar ataxia type 40
SCA38
Spinocerebellar ataxia type 38 (SCA38) is a subtype of autosomal dominant cerebellar ataxia type 3 characterized by the adult-onset (average age: 40 years) of truncal ataxia, gait disturbance and gaze-evoked nystagmus. The disease is slowly progressive with dysarthria and limb ataxia following. Additional manifestations include diplopia and axonal neuropathy.
Spinocerebellar ataxia type 38
Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome is a rare genetic malformation syndrome with short stature characterized by postnatal microcephaly, failure to thrive and short stature, global developmental delay and intellectual disability, hypotonia, dysmorphic features (short nose, depressed nasal bridge, low set ears, short neck, clinodactyly and cutaneous syndactyly of T2-3 at birth and broad forehead, midface retrusion, epicanthal folds, laterally sparse eyebrows, short nose, long philtrum, widely spaced teeth, micrognathia and coarsening of facial features later in life). Other associated features include postnatal transient generalized edema, myopia, strabismus, hypothyroidism.
Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome
gene. Mild facial dysmorphism (i.e. triangular face), short stature, failure to thrive, hypothyroidism, developmental delay, pancreatic insufficiency and coractation of aorta, as well as bone and urogenital abnormalities, may also be associated.
Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
solute carrier family 6 member 17
Ectodermal dysplasia-short stature syndrome
Short stature-nail dysplasia-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome
Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome is a rare genetic ectodermal dysplasia syndrome characterized by short stature, nail dystrophy and/or nail loss, oral mucosa and/or tongue hyperpigmentation, dentition abnormalities (delayed teeth eruption, hypodontia, enamel hypoplasia), keratoderma on the margins of the palms and soles and focal hyperkeratosis on the dorsum of the hands and feet. Additionally, dysphagia with esophageal strictures, sensorineural deafness, bronchial asthma and severe iron-deficiency anemia have been observed.
Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome
ML 3 alpha/beta
ML III alpha/beta
Mucolipidosis type 3 alpha/beta
Mucolipidosis III alpha/beta (MLIII alpha/beta) is a lysosomal disorder characterized by progressive slowing of the growth rate from early childhood, stiffness and pain in joints, gradual coarsening of facial features, moderate developmental delay and mild intellectual disability in most patients.
Mucolipidosis type III alpha/beta
ML 3 gamma
ML III gamma
Mucolipidosis type 3 gamma
Mucolipidosis type III gamma (ML 3 gamma) is a very rare lysosomal disease, that has most often been observed in the Middle East, characterized by a progressive slowing of the growth rate in early childhood; stiffness and pain in shoulders, hips, and finger joints; a gradual, mild coarsening of facial features; and by a slower progression, milder clinical course and longer life expectancy than that seen in mucolipidosis type II and mucolipidosis type III alpha/beta. Cognitive function is normal or only slightly impaired and retinitis pigmentosa has been reported in a few patients. Many survive into early adulthood, but ultimately succumb to cardiorespiratory insufficiency.
Mucolipidosis type III gamma
#945;-fetoprotein and intrauterine growth restriction is observed in routine pregnancy examination.
X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome
ARX-related encephalopathy-brain malformation spectrum
Rare autonomic nervous system disorder
DORV with subaortic or doubly committed VSD
Double outlet right ventricle with subaortic or doubly committed ventricular septal defect
DORV with atrioventricular septal defect, pulmonary stenosis, heterotaxy
Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy
Cutaneous larva migrans is a rare parasitic disease characterized by single or multiple, linear or serpinginous, erythematous, slightly elevated cutaneous tracks caused by the larval migration of various nematode species. Tracks are variable in length, generally a few millimeters wide and are frequently located on the feet (although any area of the body is possible). Patients typically present with severe, intractable pruritus, which, in some cases, may cause impaired concentration, loss of sleep, and mood disturbances.
Cutaneous larva migrans
Rare gastric carcinoma
Rare carcinoma of stomach
Hereditary cancer of stomach
Hereditary gastric cancer refers to the occurrence of gastric cancer in a familial context and is described as two or more cases of gastric cancer in first or second degree relatives with at least one case diagnosed before the age of 50. Familial clustering is observed in 10% of all cases of gastric cancer, and includes hereditary diffuse gastric cancer (early onset diffuse-type gastric cancer), gastric adenocarcinoma and proximal polyposis of the stomach (see these terms) and familial intestinal gastric cancer (familial clustering of intestinal type gastric adenocarcinoma). Hereditary gastric cancer can also occur in other hereditary cancer syndromes such as Lynch syndrome, Li-Fraumeni syndrome, familial adenomatous polyposis and juvenile polyposis syndrome (see these terms).
Hereditary gastric cancer
Gastric carcinoma, salivary gland type
Carcinoma of stomach, salivary gland type
Undifferentiated gastric carcinoma
Undifferentiated carcinoma of stomach is a rare epithelial tumour of the stomach that lacks any features of differentiation beyond an epithelial phenotype. The presenting symptoms are usually vague and nonspecific, such as weight loss, anorexia, fatigue, epigastric pain and discomfort, heartburn and nausea, vomiting or hematemesis. Patients may also be asymptomatic. Ascites, jaundice, intestinal obstruction and peripheral lymphadenopathy indicate advanced stages and metastatic spread.
Undifferentiated carcinoma of stomach
Rare tumor of small bowel
Rare tumor of small intestine
Mesenchymal tumor of small bowel
Mesenchymal tumor of small intestine
Microcephaly-complex motor and sensory axonal neuropathy syndrome is an extremely rare subtype of hereditary motor and sensory neuropathy characterized by severe, rapidly-progressing, distal, symmetric polyneuropathy and microcephaly (which can be evident in utero) with intact cognition. Clinically it presents with delayed motor development, hypotonia, absent or reduced deep tendon reflexes, progressive muscle wasting and weakness and scoliosis.
Microcephaly-complex motor and sensory axonal neuropathy syndrome
Rare carcinoma of small bowel
Rare carcinoma of small intestine
Squamous cell carcinoma of the small bowel
Squamous cell carcinoma of the small intestine is an extremely rare, malignant, epithelial tumor of the small intestine (most often localized in the duodenum). Presenting symptoms are often nonspecific, such as weight loss, epigastric pain, anorexia, weakness, fatigue, vomiting and abdominal distension, and vary depending on localization of the tumor. Gastrointestinal bleeding and perforation may occur in advanced cases.
Squamous cell carcinoma of the small intestine
NET of the small intestine
Neuroendocrine neoplasm of the small intestine
Neuroendocrine tumor of small bowel
Neuroendocrine tumor of the small intestine
Appendiceal epithelial tumor
Epithelial tumor of the appendix
Rare epithelial tumor of colon
Squamous cell carcinoma (SCC) of colon is a rare epithelial tumour of the colon arising from squamous cells of the colorectal epithelium without the presence of squamous-lined fistulous tracts or a proximal extension of an anal SCC. It usually presents with nonspecific symptoms, such as anorexia, weight loss, abdominal pain, changes of bowel habits, hematochesia or melena. Cases of severe, symptomatic hypercalcemia have been reported.
Squamous cell carcinoma of the colon
Rare rectal epithelial tumor
Rare epithelial tumor of rectum
Familial non-immune hyperthyroidism
Resistance to thyroid stimulating hormone
Familial non-autoimmune autosomal dominant hyperthyroidism (FNAH) is a rare hyperthyroidism (see this term) characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history.
Familial hyperthyroidism due to mutations in TSH receptor
Rectal squamous cell carcinoma
Squamous cell carcinoma (SCC) of rectum is a rare epithelial tumor of the rectum, arising from squamous cells in the rectal epithelium, without the presence of squamous-lined fistulous tracts in the rectum or a proximal extension of SCC of anal or gynecological origin. The reported symptoms are often nonspecific, such as anorexia, weight loss, lower abdominal pain, rectal bleeding and changes of bowel habits.
Squamous cell carcinoma of the rectum
Epithelial tumor of anal canal
Carcinoma of the anal canal
Adenocarcinoma of the anal canal is a very rare tumor of the intestine, originating from the epithelium of the anal canal (including the mucosal surface, anal glands, and lining of fistulous tracts), macroscopically appearing as a nodular, often ulcerated, invasive mass located in the anal canal. Patients often present with rectal bleeding, as well as difficulty and pain during defecation. Inguinal lymphadenopathy, if present, usually indicates metastatic spread.
Adenocarcinoma of the anal canal
Squamous cell carcinoma of the anal canal is a rare epithelial intestinal neoplasm, arising from squamous epithelial cells in the anal canal, with variable macroscopic appearance, ranging from small, benign lesions (that mimick fissures, hemorrhoids or anorectal fistulae) to a large, exophytic or ulcerating tumor localized within the anal canal. Patients may be asymptomatic or present difficulty to defecate, anal bleeding, pain and/or discharge, and often have a history of chronic anal fistulae and abscesses, Crohn's disease, hemorrhoids, or, especially in younger patients, immunosuppression (such as HIV infection). Association with HPV infection is commonly reported.
Squamous cell carcinoma of the anal canal
EPM8
PME type 8
Progressive myoclonic epilepsy due to CERS1 deficiency
Progressive myoclonus epilepsy type 8
Progressive myoclonic epilepsy type 8
Rare pancreatic epithelial tumor
Rare epithelial tumor of pancreas
Pancreatic squamous cell carcinoma
Squamous cell carcinoma of the pancreas is a rare epithelial tumor of the exocrine pancreas, histologically characterized by presence of keratinization and/or intracellular bridges and lymphovascular and perineural invasion, as well as high metastatic potential. Patients present with upper abdominal and back pain, anorexia, weight loss, nausea, vomiting and jaundice.
Squamous cell carcinoma of the pancreas
Pancreatic acinar cell carcinoma
Acinar cell carcinoma of pancreas
Pancreatic mucinous cystadenocarcinoma
Mucinous cystadenocarcinoma of the pancreas
Pancreatic intraductal papillary mucinous carcinoma
Intraductal papillary mucinous carcinoma of pancreas is a rare epithelial tumor of pancreas characterized by malignant, mucin-producing cystic mass, originating from the pancreatic ductal system, associated with local invasion and metastatic spread, composed of mucin-producing, columnar epithelial cells covering the dilated pancreatic ducts with a papillary structure. The presenting symptoms are non-specific and include abdominal pain, pancreatitis, steatorrhea, jaundice and diabetes. Many patients are asymptomatic at the time of diagnosis.
Intraductal papillary mucinous carcinoma of pancreas
Pancreatic solid pseudopapillary carcinoma
Solid pseudopapillary neoplasm of the pancreas
Solid pseudopapillary carcinoma of the pancreas is a rare carcinoma of the pancreas characterized by a variable combination of nonspecific signs and symptoms, such as abdominal pain, jaundice, abdominal fullness, anorexia, nausea, vomiting, and weight loss. One-third of the patients are asymptomatic. The tumor has low malignant potential, but can invade locally.
Solid pseudopapillary carcinoma of the pancreas
Pancreatic serous cystadenocarcinoma
Serous cystadenocarcinoma of the pancreas
OGCT of pancreas
Pancreatic osteoclastic giant cell tumor
Pancreatic undifferentiated carcinoma with osteoclast-like giant cells
Undifferentiated carcinoma of pancreas with osteoclast-like giant cells
Osteoclastic giant cell tumor of pancreas
Microphthalmia-coloboma-rhizomelic skeletal dysplasia
Colobomatous microphthalmia-rhizomelic dysplasia syndrome is a rare, genetic developmental defect during embryogenesis characterized by a range of developmental eye anomalies (including anophthalmia, microphthalmia, colobomas, microcornea, corectopia, cataract) and symmetric limb rhizomelia with short stature and contractures of large joints. Intellectual disability with autistic features, macrocephaly, dysmorphic features, urogenital anomalies (hypospadia, cryptorchidism), cutaneous syndactyly and precocious puberty may also be present.
Colobomatous microphthalmia-rhizomelic dysplasia syndrome
Congenital myopathy with myasthenic-like onset is a rare, genetic, non-dystrophic myopathy characterized by fatigable muscle weakness associated with congenital myopathy. Patients present with axial hypotonia, myopathic facies with fatigable ptosis, feeding difficulties, delayed gross motor development and proximal limb weakness with a RYR1-related typical pattern of muscle involvement (i.e. severe involvement of the soleus muscle and sparring of the rectus femoris, sartorius, gracilis and semitendinous muscles). Scoliosis and frequent respiratory tract infections are additional observed features.
Congenital myopathy with myasthenic-like onset
Autosomal recessive muscular dystrophy due to LAP1B deficiency
Autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency
LGMD2Y
Muscular dystrophy with progressive weakness, distal contractures and rigid spine
Autosomal recessive limb-girdle muscular dystrophy type 2Y is a form of limb-girdle muscular dystrophy, presenting in the first or second decades of life, characterized by slowly progressive proximal and distal muscle weakness and atrophy. Additional manifestations include contractures of the proximal and distal interphalangeal hand joints, rigid spine, restricted pulmonary function, and mild cardiomyopathy.
Autosomal recessive limb-girdle muscular dystrophy type 2Y
Qualitative or quantitative defects of Torsin-1A-interacting protein 1
Rare epithelial tumor of liver and IBT
Rare epithelial tumor of liver and intrahepatic biliary tract
Carcinoma of liver and IBT
Carcinoma of liver and intrahepatic biliary tract
Adenocarcinoma of the liver and IBT
Adenocarcinoma of the liver and intrahepatic biliary tract
Undifferentiated carcinoma of liver and IBT
Undifferentiated carcinoma of liver and intrahepatic biliary tract is an extremely rare epithelial tumor of the liver and biliary tract which presents heterogenous histological findings and not yet fully defined clinicopathological characterisitcs. Patients usually present with nonspecific signs and symptoms, such as abdominal pain, nausea, vomiting, anorexia, weight loss and/or jaundice. Invasive growth, hight metastatic potential and a rapid clinical course are typically associated.
Undifferentiated carcinoma of liver and intrahepatic biliary tract
Squamous cell carcinoma of liver and IBT
Squamous cell carcinoma of liver and intrahepatic biliary tract is an extremely rare, primary, malignant liver and biliray tract epithelial tumor originating in the intrahepatic bile duct epithelium histologically characterized by the presence of keratinization and/or intracellular bridges. Patients typically present abdominal pain in the right upper quadrant, jaundice, nausea, vomiting, anorexia, weight loss, fever and/or dyspepsia.
Squamous cell carcinoma of liver and intrahepatic biliary tract
Intrahepatic bile duct cystadenocarcinoma
Biliary cystadenocarcinoma
Adenocarcinoma of the gallbladder and EBT
Adenocarcinoma of the gallbladder and extrahepatic biliary tract is a rare epithelial carcinoma, arising either in the gallbladder itself or from the epithelium lining the extrahepatic biliary tree, cystic duct and/or peribiliary gland, characterized by nonspecific symptoms, such as abdominal pain, jaundice and vomiting and sometimes mimicking benign biliary diseases. Chronic biliary epithelial inflammation (e.g. primary sclerosing cholangitis, cholelithiasis, choledocholithiasis, liver fluke infestation) is a major risk factor.
Adenocarcinoma of the gallbladder and extrahepatic biliary tract
Squamous cell carcinoma of gallblader and EBT
Squamous cell carcinoma of the gallbladder and extrahepatic biliary tract is a rare hepatic and biliary tract tumor, arising either in the gallbladder itself or in the epithelium lining the extrahepatic biliary tree, the cystic duct and peribiliary glands. It is characterized by a substantial keratinization with abundant keratohyalin pearls and central deposition of dense keratin material within infiltrative nests and locally aggressive nature. In the early stages of the disease symptoms are vague and nonspecific (abdominal pain, jaundice and vomiting). In the advanced stages it may present with a bulky tumor and symptoms of adjacent organ involvement.
Squamous cell carcinoma of gallbladder and extrahepatic biliary tract
ApoA-I deficiency
Familial apoA-I deficiency
Familial hypoalphalipoproteinemia
Apolipoprotein AI (Apo A-I) deficiency is a rare lipoprotein metabolism disorder characterized biochemically by complete absence of apolipoprotein AI and extremely low plasma high density lipoprotein (HDL) cholesterol, and clinically by corneal opacities and xanthomas complicated with premature coronary heart disease (CHD).
Apolipoprotein A-I deficiency
Inherited digestive cancer-predisposing syndrome
SAVI
STING-associated vasculopathy with onset in infancy (SAVI) is a rare, genetic autoinflammatory disorder, type I interferonopathy due to constitutive STING (STimulator of INterferon Genes) activation, characterized by neonatal or infantile onset systemic inflammation and small vessel vasculopathy resulting in severe skin, pulmonary and joint lesions. Patients present with intermittent low-grade fever, recurrent cough and failure to thrive, in association with progressive interstitial lung disease, polyarthritis and violaceous scaling lesions on fingers, toes, nose, cheeks, and ears (which are exacerbated by cold exposure) that often progress to chronic acral ulceration, necrosis and autoamputation.
STING-associated vasculopathy with onset in infancy
Rare epithelial tumor of small bowel
Rare epithelial tumor of small intestine
DSI
GIT
P4Hbeta
PDI
PDIA1
PO4HB
PROHB
collagen prolyl 4-hydroxylase beta
protein disulfide isomerase family A, member 1
protein disulfide isomerase-associated 1
prolyl 4-hydroxylase subunit beta
KIAA0755
SEC24 homolog D, COPII coat complex component
dishevelled segment polarity protein 1
RIC-4
RIC4
SEC9
SNAP-25
resistance to inhibitors of cholinesterase 4 homolog
synaptosome associated protein 25
msk
myocardial SNF1-like kinase
salt inducible kinase 1
hippocalcin
76P
tubulin gamma complex associated protein 4
RE2
G protein-coupled receptor 161
Marshall syndrome with periodic fever
Periodic fever-aphtous stomatitis-pharyngitis-adenopathy syndrome
PFAPA (Periodic fever - aphthous stomatitis- pharyngitis - adenopathy) syndrome is an auto inflammatory syndrome characterized by recurrent febrile episodes associated with aphthous stomatitis, pharyngitis and cervical adenitis.
PFAPA syndrome
SCEH
short chain enoyl-CoA hydratase
enoyl-CoA hydratase, short chain 1
nNOS
nitric oxide synthase 1
Hypopigmentation-deafness syndrome
Tietz syndrome is a genetic hypopigmentation and deafness syndrome characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair.
Tietz syndrome
DAN
deadenylation nuclease
poly(A)-specific ribonuclease
ESSS
NP17.3
Np15
complex I NP17.3 subunit
NADH:ubiquinone oxidoreductase subunit B11
dynamin 1
IGNT
Ii blood group
NAGCT1
ULG3
unassigned linkage group 3
glucosaminyl (N-acetyl) transferase 2 (I blood group)
Aldosterone synthase deficiency is a rare inherited defect of the final step of aldosterone biosynthesis (conversion of deoxycorticosterone to aldosterone).
Familial hypoaldosteronism
200/mm3) without an associated lymphocyte deficit.
Severe congenital neutropenia
Pascual-Castroviejo syndrome type 2
PHACE is an acronym used to describe a syndrome characterised by the association of Posterior fossa brain malformations, large facial Haemangiomas, anatomical anomalies of the cerebral Arteries, aortic coarctation and other Cardiac anomalies, and Eye abnormalities. Sternal anomalies are also sometimes present, and in these cases the syndrome is referred to as PHACES. Two additional manifestations have recently been added to the clinical spectrum of PHACE syndrome: stenosis of the vessels at the base of the skull and segmental longitudinal dilations of the internal carotid artery.
PHACE syndrome
AD hypocalcemia
Autosomal dominant hypocalcemia (AD hypocalcemia) is a disorder of calcium homeostasis characterized by variable degrees of hypocalcemia with abnormally low levels of parathyroid hormone (PTH) and persistant normal or elevated calciuria.
Autosomal dominant hypocalcemia
Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints.
Hypochondroplasia
ALD
X-ALD
X-linked ALD
X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency.
X-linked adrenoleukodystrophy
use http://www.orpha.net/ORDO/Orphanet_504 with label: Creeping myiasis
Cwc24
RNF113
ring finger protein 113A
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_1643 with label: Xp22.3 microdeletion syndrome
CHET9
JJAZ1
KIAA0160
SUZ12, polycomb repressive complex 2 subunit
NUT family member 2A
NUT family member 2B
TAZ
WW domain containing transcription regulator 1
SemE
semaphorin 3C
X-linked colobomatous microphthalmia-microcephaly-short stature-psychomotor retardation syndrome
X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome is a rare syndromic microphthalmia disorder characterized by microphthalmia with coloboma (which may involve the iris, cilary body, choroid, retina and/or optic nerve), microcephaly, short stature and intellectual disability. Other eye abnormalities such as pendular nystagmus, esotropia and ptosis may also be present. Additional associated abnormalities include kyphoscoliosis, anteverted pinnae with minimal convolutions, diastema of the incisors and congenital pes varus.
X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome
Sema-Z2
coll-2
semaphorin 3D
Combined immunodeficiency with childhood-onset Kaposi sarcoma
Combined immunodeficiency with impaired immunity to HHV-8
Combined immunodeficiency with impaired immunity to human herpes virus 8
Combined immunodeficiency due to OX40 deficiency is a rare combined T and B cell immunodeficiency characterized by susceptibility to develop an aggressive, childhood-onset, disseminated, cutaneous and systemic Kaposi sarcoma.
Combined immunodeficiency due to OX40 deficiency
Aconitase deficiency
ISCU myopathy
Iron-sulfur cluster deficiency myopathy
Myopathy with exercise intolerance, Swedish type
Aconitase deficiency is characterised by myopathy with severe exercise intolerance and deficiencies of skeletal muscle succinate dehydrogenase and aconitase.
Hereditary myopathy with lactic acidosis due to ISCU deficiency
Primary immunodeficiency with predisposition to severe viral infection
Serotonergic syndrome
Serotonin storm
Serotonin toxicity
Serotonin toxidrome
Serotoninergic syndrome is characterised by an excess of serotonin in the central nervous system, associated with the use of various agents, including selective serotonin reuptake inhibitors (SSRIs).
Serotonin syndrome
Primary immunodeficiency with post-MMR vaccine viral infection
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection is a rare primary immunodeficiency due to a defect in innate immunity disorder characterized by selective susceptibility to viral infections, particularly after systemic challenge with live viral vaccines, such as the measles, mumps and rubella (MMR) vaccine. Patients present severe, potentially fatal, manifestations to viral illness, including encephalitis, hepatitis and pneumonitis.
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
Acute tricyclic antidepressant (TCA) poisoning is a potentially lethal intoxication that is characterized by life-threatening arrhythmias (sinus tachycardias, premature ventricular contractions, ventricular arrhythmias), anticholinergic toxidrome (mydriasis, dry mucous membrane, tachycardia, hypertension), central nervous system toxicity (lethargy, coma, myoclonic jerks), refractory hypotension, and sudden death.
Acute tricyclic antidepressant poisoning
Acute poisoning with a membrane-stabilizing effect is potentially life-threatening. The principle drugs involved are tricyclic antidepressants, chloroquine, some types of beta blockers, class IA antiarrhythmics, carbamazepin and cocaine.
Acute poisoning by drugs with membrane-stabilizing effect
FK506 binding protein 12-rapamycin associated protein 2
FKBP-rapamycin associated protein
FKBP12-rapamycin complex-associated protein 1
RAFT1
RAPT1
dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)
mammalian target of rapamycin
rapamycin and FKBP12 target 1
rapamycin associated protein FRAP2
rapamycin target protein
mechanistic target of rapamycin kinase
ISLET1
Isl-1
ISL LIM homeobox 1
Neurogenic scapuloperoneal amyotrophy, New England type
SPSMA
Scapuloperoneal neuronopathy
Scapuloperoneal spinal muscular atrophy
Late-onset SPMD with hyaline bodies
Late-onset scapuloperoneal syndrome, myopathic type
Late-onset scapuloperoneal muscular dystrophy with hyaline bodies
X-linked SPMD
X-linked scapuloperoneal syndrome
X-linked scapuloperoneal muscular dystrophy (X-linked SPMD) is a skeletal muscle disease characterized by late onset, co-occurrence of scapular and peroneal muscle weakness, and scapular winging.
X-linked scapuloperoneal muscular dystrophy
SPOAN and SPOAN-related disorder
Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder
Spastic paraplegia due to partial TFG deficiency
gene (3q12.2) encoding protein TFG, which is thought to play a role in ER microtubular architecture and function.
Autosomal recessive spastic paraplegia type 57
Patent urachus is a type of congenital urachal anomaly (see this term) characterized by a persistent communication between the bladder and the umbilicus, secondary to non occlusion of the urachal lumen, manifesting as clear drainage from the umbilicus.
Patent urachus
Urachal sinus is a type of congenital urachal anomaly (see this term) resulting from the failure of the umbilical end of the urachus to close, without continuity to the bladder, and that is usually asymptomatic but can present with continuous cloudy umbilical discharge, tender midline infraumbilical mass and fever when infected.
Urachal sinus
Vesicourachal diverticulum
Urachal diverticulum is the rarest type of congenital urachal anomaly (see this term) resulting from the failure of the distal urachus to close at its point of connectivity to the bladder that is usually asymptomatic but can be associated with recurrent urinary tract infections and other complications.
Urachal diverticulum
Pulmonary veno-occlusive disease and/or pulmonary capillary hemangiomatosis (PVOD and/or PCH) constitutes a rare subgroup of pulmonary arterial hypertension (PAH; see this term) characterized by obliterative fibrosis of the small pulmonary veins and venules and/or capillary infiltration of the pulmonary interstitium leading to increased pulmonary vascular resistance and right ventricular dysfunction.
Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis
2,4-dienoyl-CoA reductase deficiency
DECR deficiency with hyperlysinemia
Progressive encephalopathy with leukodystrophy due to DECR deficiency is a rare mitochondrial disease, which presents with neonatal hypotonia, central nervous system abnormalities (ventriculomegaly, corpus callosum hypoplasia, cerebellar atrophy), acquired microcephaly, failure to thrive, developmental delay and intermittent lactic acidosis provoked by catabolic stress (e.g. infection). Hyperlysinemia and elevated C10:2 carnitine can be detected in plasma. Later on, epilepsy, cerebellar ataxia, renal tubular acidosis, severe encephalopathy, dystonia, spastic quadriplegia and other complications may develop.
Progressive encephalopathy with leukodystrophy due to DECR deficiency
Kv10.1
eag
eag1
h-eag
potassium voltage-gated channel subfamily H member 1
APCL
adenomatous polyposis coli like
APC2, WNT signaling pathway regulator
CALDAG-GEFI
calcium- and diacylglycerol-regulated guanine nucleotide exchange factor I
RAS guanyl releasing protein 2
GATD5
CTP synthase 1
GL009
jagunal homolog 1
CD182
CMKAR2
C-X-C motif chemokine receptor 2
LAG1
UOG1
ceramide synthase 1
KIAA1518
KN motif and ankyrin repeat domains 2
SLC53A1
SYG1
solute carrier family 53 (phosphate exporter), member 1
xenotropic and polytropic retrovirus receptor 1
TGC1
TSGA3
testis expressed 11
GABA transporter 1
GABATHG
GABATR
GAT1
solute carrier family 6 member 1
ACZ
KIAA0559
aczonin
piccolo presynaptic cytomatrix protein
IL17-RL
interleukin 17 receptor C
CGI-PDE
phosphodiesterase 3A
Gonadotropic deficiency
Isolated congenital gonadotropin deficiency
Normosmic idiopathic hypogonadotropic hypogonadism
nIHH
Normosmic congenital hypogonadotropic hypogonadism
HELO1
ELOVL fatty acid elongase 5
LAP1B
lamina associated polypeptide 1B
torsin 1A interacting protein 1
ring finger protein 168
G7a
KIAA1885
valine tRNA ligase 2, mitochondrial
valyl-tRNA synthetase 2, mitochondrial
threonine tRNA ligase 2, mitochondrial
threonyl-tRNA synthetase 2, mitochondrial
HOIL-1-interacting protein
HOIP
Paul
ZIBRA
ring finger protein 31
FANCT
HSPC150
ubiquitin conjugating enzyme E2 T
Lambert-Eaton myasthenic syndrome (LEMS) is an autoimmune, presynaptic disorder of neuromuscular transmission characterized by fluctuating muscle weakness and autonomic dysfunction frequently associated with small-cell lung cancer (SCLC).
Lambert-Eaton myasthenic syndrome
Microcephaly-cerebral malformation-orofaciodigital syndrome
OFD14
Oral-facial-digital syndrome type 14
mutations, characterized by severe microcephaly, trigonocephaly, severe intellectual disability and micropenis, in addition to oral, facial and digital malformations (gingival frenulae, lingual hamartomas, cleft/lobulated tongue, cleft palate, telecanthus, up-slanting palpebral fissures, microretrognathia, postaxial polydactyly of hands and duplication of hallux). Corpus callosum agenesis and vermis hypoplasia with molar tooth sign, on brain imaging, are also associated.
Orofaciodigital syndrome type 14
ACT35
CD134
OX40
TNF receptor superfamily member 4
MNADK
mitochondrial NAD kinase
NAD kinase 2, mitochondrial
C2 calcium dependent domain containing 3
ELP79
EMAP
HuEMAP
echinoderm microtubule associated protein like 1
STAT113
signal transducer and activator of transcription 2
ATC2
CRN
Lrp4
PRSC
TMPRSS10
corin, serine peptidase
DCDC2A
KIAA1154
NPHP19
doublecortin domain containing 2
LSM16
LSM16 homolog (EDC3, S. cerevisiae)
YJEFN2
enhancer of mRNA decapping 3
SOS Ras/Rho guanine nucleotide exchange factor 2
frizzled class receptor 2
Alpha-MPP
KIAA0123
peptidase, mitochondrial processing alpha subunit
PI4K-ALPHA
phosphatidylinositol 4-kinase III alpha
phosphatidylinositol 4-kinase IIIα
pi4K230
phosphatidylinositol 4-kinase alpha
PRO180
WWFQ154
DNA damage regulated autophagy modulator 2
COX25
HSPC009
MITRAC12
cytochrome c oxidase assembly factor 3
PXYLT2
XT-II
protein xylosyltransferase 2
xylosyltransferase 2
cysteine-rich protein
secreted protein acidic and rich in cysteine
secreted protein acidic and cysteine rich
BAF180
PB1
polybromo 1
Rare genetic autonomic nervous system disorder
Syndrome with woolly hair
HI syndrome
Hypomelanosis of Ito
Incontinentia pigmenti type 1
Pigmentary mosaicism, Ito type
Hypomelanosis of Ito (HI) is a multisystemic neurocutaneous condition with hypopigmented skin lesions along the Blaschko lines.
Ito hypomelanosis
Multiple ossifying fibroma
Familial ossifying fibroma
LUTO
Fetal lower urinary tract obstruction
Anterior urethral valve
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation
CMT2 due to VCP mutation
CMT2Y
Autosomal dominant Charcot-Marie-Tooth disease type 2Y
EPM7
MEAK
Myoclonus epilepsy and ataxia due to potassium channel mutation
PME type 7
Progressive myoclonic epilepsy due to KV3.1 deficiency
Progressive myoclonus epilepsy type 7
Progressive myoclonic epilepsy type 7
sodium-dependent lysophosphatidylcholine symporter 1
major facilitator superfamily domain containing 2A
Genetic precocious puberty
Precocious puberty in female
Genetic precocious puberty in female
RSP3
radial spoke head 3 homolog
Genetic otorhinolaryngological malformation
Genetic nose and cavum anomaly
Genetic larynx anomaly
Genetic tracheal anomaly
Generalized lipodystrophy-progeroid features-severe intellectual disability syndrome
Keppen-Lubinsky syndrome
Intellectual disability-epilepsy-stereotypic hand movement syndrome
Monosomy 3p25.3
3p25.3 microdeletion syndrome is a rare chromosomal anomaly characterized by intellectual disability, epilepsy or EEG abnormalities, poor speech, ataxia, and stereotypic hand movements.
3p25.3 microdeletion syndrome
CIDEC-related FPLD
FPLD5
CIDEC-related familial partial lipodystrophy
FPLD6
LIPE-related FPLD
LIPE-related familial partial lipodystrophy
Congenital urachal anomaly (CUA) describes a group of urachal remnants, found more frequently in males than females, that result from incomplete closure of the urachus (an embryological remnant of the allantois) during prenatal development, and that are usually asymptomatic (and found as an incidental finding on a radiological study) but can also present with umbilical discharge (in patent urachus or urachal sinus), infraumblical mass and pain, or with complications such as obstruction and infection. CUAs include patent urachus, urachal sinus, urachal cyst and urachal diverticulum (see these terms).
Congenital urachal anomaly
RNase H1
ribonuclease H1
JBTS23
Talpid3
KIAA0586
Short stature-advanced bone age-early-onset osteoarthritis syndrome
use http://www.orpha.net/ORDO/Orphanet_364817 with label: Aggrecan-related bone disorder
OBSOLETE: ACAN-related skeletal dysplasia
CMT2 due to TFG mutation
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation
Lethal neonatal rigidity-multifocal seizure syndrome
Lethal neonatal spasticity-epileptic encephalopathy syndrome
Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome
COG2-related congenital disorder of glycosylation
COG2-CDG
X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome is a rare syndromic intellectual disability characterized by hypotonia, microcephaly, severe developmental delay, seizures, intellectual disability, growth retardation, cardiovascular septal defects, cryptorchidism, hypospadias, and dysmorphic features - prominent ears, prognathism, thin upper lip, dental crowding.
X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome
Ruijs-Aalfs syndrome
Progeroid features-hepatocellular carcinoma predisposition syndrome
CAID syndrome
Chronic atrial dysrhythmia-intestinal motility disorder
Chronic atrial and intestinal dysrhythmia syndrome
RI-CMT type D
Autosomal recessive intermediate Charcot-Marie-Tooth disease type D
HPP
Phosphoethanolaminuria
Rathburn disease
Hypophosphatasia (HPP) is a rare heritable metabolic disorder characterized by defective mineralization of bone and/or teeth in the presence of reduced activity of unfractionated serum alkaline phosphatase (ALP). The clinical spectrum is extremely wide, from stillbirth at one end to fractures of the lower extremities in adulthood, at the other, or even no bone manifestations (odontohypophosphatasia).
Hypophosphatasia
5q23 microdeletion syndrome
Contractures-developmental delay-Pierre Robin syndrome
Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome
Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome
Intellectual disability-loss of expressive language-facial dysmorphism syndrome
Intellectual disability-expressive aphasia-facial dysmorphism syndrome
ALPS due to CTLA4 haploinsuffiency
CHAI
CTLA-4 haploinsufficiency with autoimmune infiltration disease
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency is a rare, primary immunodeficiency characterized by variable combination of enteropathy, hypogammaglobulinemia, recurrent respiratory infections, granulomatous lymphocytic interstitial lung disease, lymphocytic infiltration of non-lymphoid organs (intestine, lung, brain, bone marrow, kidney), autoimmune thrombocytopenia or neutropenia, autoimmune hemolytic anemia and lymphadenopathy.
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
NLRC4-related MAS
NLRC4-related autoinflammatory syndrome with MAS
NLRC4-related autoinflammatory syndrome with macrophage activation syndrome
NLRC4-related infantile enterocolitis-autoinflammatory syndrome
NLRC4-related macrophage activation syndrome
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
THBD-related bleeding disorder
THBD-related coagulopathy
Thrombomodulin-related coagulopathy
Thrombomodulin-related bleeding disorder
CAGSSS
Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
Microcephalic primordial dwarfism-insulin resistance syndrome
Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease
Retinal dystrophy-juvenile cataract-short stature syndrome
Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome
CID-MIA/early-onset IBD
Combined immunodeficiency-enteropathy spectrum
Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
PXE-like syndrome with retinitis pigmentosa
Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa
JPO1
cell division cycle associated 7
LSH
PASG
SMARCA6
SWI/SNF2-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 6
proliferation-associated SNF2-like protein
helicase, lymphoid specific
E1k
oxoglutarate dehydrogenase
ATF6A
activating transcription factor 6 alpha
activating transcription factor 6
CAP102
alpha-E-catenin
catenin alpha 1
UFM1 specific peptidase 2
OSC
Oxidosqualene-lanosterol cyclase
lanosterol synthase
solute carrier family 25 member 46
APPL
DCC-interacting protein 13-alpha
adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1
Hypophosphatemic rickets is a group of genetic diseases characterized by hypophosphatemia, rickets, and normal serum levels of calcium.
Hypophosphatemic rickets
T-box 18
prepro-calmodulin 3
calmodulin 3
FSAP
HABP
HGFAL
PHBP
factor VII activating protein
plasma hyaluronan binding protein
hyaluronan binding protein 2
Autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity
CD16 deficiency
Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity
MYH7-related late-onset SPMD
MYH7-related late-onset scapuloperoneal syndrome
MYH7-related late-onset scapuloperoneal muscular dystrophy
RAD54A
hHR54
hRAD54
RAD54 like
PP2C-DELTA
Wip1
protein phosphatase 2C, delta isoform
wild-type p53-induced phosphatase 1
protein phosphatase, Mg2+/Mn2+ dependent 1D
BWR1A
ITM
TSSC5
solute carrier family 22 member 18
ripply transcriptional repressor 2
DAP13
complex I B17.2 subunit
NADH:ubiquinone oxidoreductase subunit A12
KBF1
NF-kB1
NF-kappaB
NFKB-p50
NFkappaB
nuclear factor kappa B subunit 1
MITA
MPYS
NET23
STING
stimulator of interferon genes
transmembrane protein 173
Disorder of keton body transport
Ketoacidosis due to monocarboxylate transporter-1 deficiency
POLZ
REV3
polymerase, DNA, zeta
REV3 like, DNA directed polymerase zeta catalytic subunit
RARS-related autosomal recessive hypomyelinating leukodystrophy
Bilateral hip and radial head dislocations-short stature-scoliosis-carpal coalitions-pes cavus-facial dysmorphism syndrome
Steel syndrome
gene and characterized by neurodegeneration, postnatal growth retardation, prelingual sensorineural hearing loss, premature aging, ocular and cutaneous telangiectasia, learning difficulties, photophobia, and photosensitivity with evidence of predisposition to sun-induced malignancy. Progressive neurologic deterioration leads to gait disturbances, muscle weakness, speech and swallowing difficulties and progressive cognitive decline.
PCNA-related progressive neurodegenerative photosensitivity syndrome
STAT3-related early-onset multisystem autoimmune disease
Severe intellectual disability-epilepsy-cataract syndrome due to FAR1 deficiency
Severe intellectual disability-epilepsy-cataract syndrome due to peroxisomal disorder
Severe intellectual disability-epilepsy-cataract syndrome due to fatty acyl-CoA reductase 1 deficiency
Severe autosomal recessive macrothrombocytopenia
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation is a rare, genetic neurological disease, with a highly variable phenotype, typically characterized by neonatal hypotonia, respiratory and feeding difficulties, global development delay (often with nonverbal and frequently non-ambulatory progression) and myopathic facies. Other frequently present features include seizures (or seizure-like episodes), visual impairment and encephalopathy.
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation
PERM
Progressive encephalomyelitis with rigidity and myoclonus
delta like canonical Notch ligand 4
Mahvash disease
GCGR-related hyperglucagonemia
Human infection by orthopoxvirus
protein interacting with PRKCA 1
Isolated right ventricular hypoplasia (IRVH) is a rare congenital heart malformation (see this term) characterized by underdevelopment of the right ventricle associated with patent foramen ovale or interauricular communication (see these terms) and normally developed tricuspid and pulmonary valves. IRVH manifests with severe cyanosis, congestive heart failure, and in severe cases, death in early infancy.
Isolated right ventricular hypoplasia
Uteroplacental vascular insufficiency
Placental insufficiency
Childhood AIS
Childhood arterial ischemic stroke
Pediatric AIS
Pediatric arterial ischemic stroke
NAE
Necrolytic acral erythema
Zinc-responsive necrolytic acral erythema
Chronic obstetric brachial plexus injury
Chronic obstetric brachial plexus palsy
Non-recovering OBPI
Non-recovering OBPL
Non-recovering obstetric brachial plexus lesion
EMARDD
Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome
KCNQ2-NEE
KCNQ2-related neonatal epileptic encephalopathy
KCNQ2-related epileptic encephalopathy is a severe form of neonatal epilepsy that usually manifests in newborns during the first week of life with seizures (that affect alternatively both sides of the body), often accompanied by clonic jerking or more complex motor behavior, as well as signs of encephalopathy such as diffuse hypotonia, limb spasticity, lack of visual fixation and tracking and mild to moderate intellectual deficiency. The severity can range from controlled to intractable seizures and mild/moderate to severe intellectual disability.
KCNQ2-related epileptic encephalopathy
Leukocyte chemotactic factor-2 amyloidosis
ALECT2 amyloidosis
Apolipoprotein A-IV amyloidosis
AApoAIV amyloidosis
Beta2-microglobulinic amyloidosis
ABeta2M amyloidosis
Familial cerebral amyloid angiopathy
ITM2B-related amyloidosis
ITM2B-related cerebral amyloid angiopathy
ITM2B amyloidosis
Cutaneous PAN
Cutaneous periarteritis nodosa
Cutaneous polyarteritis nodosa (CPAN) is a rare limited form of polyarteritis nodosa (PAN, see this term), characterized by cutaneous vasculitis and mild and transient extracutaneous manifestations such as mild arthralgia, arthritis,myalgia, and rarely peripheral neuropathy.
Cutaneous polyarteritis nodosa
Primary PAN
Primary periarteritis nodosa
Primary polyarteritis nodosa
Secondary PAN
Secondary periarteritis nodosa
Secondary polyarteritis nodosa (PAN) is a rare serious form of PAN (see this term) characterized by vasculitis in a background of viral infection, primarily with hepatitis B virus (HBV).
Secondary polyarteritis nodosa
Single-organ PAN
Single-organ periarteritis nodosa
Single-organ polyarteritis nodosa (PAN) is a rare, often mild form of PAN characterized by limited disease without generalized manifestations, most often affecting the skin (cutaneous PAN; see this term), the brain, eyes, pancreas, testicles, ureter, breasts, or ovaries. Affected patients are often younger than those with systemic PAN (see this term) and relapses appear to be more common.
Single-organ polyarteritis nodosa
Systemic PAN
Systemic periarteritis nodosa
Systemic polyarteritis nodosa (PAN; see this term) is a chronic systemic necrotizingvasculitis of adults and childrenaffecting small- and medium-sized vessels and characterized by formation of microaneurysms leading to serious generalized disease and multi-organ involvement.
Systemic polyarteritis nodosa
PDE4D haploinsufficiency syndrome is a rare syndromic intellectual disability characterized by developmental delay, intellectual disability, low body mass index, long arms, fingers and toes, prominent nose and small chin.
PDE4D haploinsufficiency syndrome
Autosomal recessive severe congenital neutropenia
Fatal congenital hypertrophic cardiomyopathy due to GSD
Fatal congenital hypertrophic cardiomyopathy due to glycogenosis
Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease
Croupous bronchitis
Fibrinous bronchitis
Pseudo-membranous bronchitis
Plastic bronchitis
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome is a rare, genetic developmental defect during embryogenesis malformation syndrome characterized by intrauterine growth restriction, flexion arthrogryposis of all joints, severe microcephaly, renal cystic dysplasia/agenesis/hypoplasia and complex malformations of the brain (cerebral and cerebellar hypoplasia, vermis, corpus callosum and/or occipital lobe agenesis, with or without arhinencephaly), as well as of the genitourinary tract (ureteral agenesis/hypoplasia, uterine hypoplasia and/or vaginal atresia), leading to fetal demise.
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
NALD
Neonatal adrenoleukodystrophy (NALD) is the variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS; see this term), charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD) (see this term).
Neonatal adrenoleukodystrophy
Hypospadias is the displacement of the urethral meatus on the ventrum of the penis. This abnormality is associated with a varyingly bent, twisted penis and opened dorsal prepuce.
Familial hypospadias
mab-21 like 2
Congenital CNIII lesion
Congenital third cranial nerve palsy
Congenital oculomotor nerve palsy
Benign congenital sixth cranial nerve palsy
Congenital CNVI palsy
Congenital abducens nerve palsy
WD40-repeat protein upregulated in HCC
WDRPUH
cilia and flagella associated protein 52
P73
tumor protein p73
Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome
NSTI
Necrotizing soft tissue infection
Interstitial lung disease due to surfactant protein C deficiency
Interstitial lung disease due to SP-C deficiency
Interstitial lung disease due to ATP-binding cassette subfamily A member 3 deficiency
Interstitial lung disease due to ABCA3 deficiency is a rare genetic respiratory disease characterized by a variable clinical outcome ranging from a fatal respiratory distress syndrome in the neonatal period to chronic interstitial lung disease developing in infancy or childhood with chronic cough, rapid breathing, shortness of breath and recurrent pulmonary infections. Clinical manifestations of respiratory failure include grunting, intercostal retractions, nasal flaring, cyanosis, and progressive dyspnea.
Interstitial lung disease due to ABCA3 deficiency
Hereditary pulmonary alveolar proteinosis with hepatic involvement
Interstitial lung and liver disease
PAP, Reunion island type
Pulmonary alveolar proteinosis, Reunion island type
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
FCCTX
Familial colorectal cancer Type X
Disorders of pentose/polyol metabolism
Ribose-5-P isomerase deficiency is an extremely rare, hereditary, disorder of pentose phosphate metabolism characterized by progressive leukoencephalopathy and a highly increased ribitol and D-arabitol levels in the brain and body fluids. Clinical presentation includes psychomotor delay, epilepsy, and childhood-onset slow neurological regression with ataxia, spasticity, optic atrophy and sensorimotor neuropathy.
Ribose-5-P isomerase deficiency
Isolated SHPK deficiency
Isolated sedoheptulokinase deficiency
Extensive peripapillary myelinated nerve fibers
CHR-RPE
Combined hamartoma of the retina and RPE
Combined hamartoma of the retina and retinal pigment epithelium
L-ferritin deficiency
Isolated agenesis of gallbladder
Bradbury-Eggleston syndrome
Idiopathic orthostatic hypotension
PAF
Pure dysautonomia
Pure idiopatic dysautonomia
Pure autonomic failure (PAF) is a neurodegenerative disease that affects the sympathetic branch of the autonomous nervous system and that manifests with orthostatic hypotension.
Pure autonomic failure
CGI-151
KIAA0992
SIH002
palladin, cytoskeletal associated protein
CNG2
OCNC1
OCNCALPHA
OCNCa
OCNCalpha
cyclic nucleotide gated channel alpha 2
use http://www.orpha.net/ORDO/Orphanet_98676 with label: Autosomal recessive isolated optic atrophy
OBSOLETE: Autosomal recessive optic atrophy, OPA9 type
KIAA1870
collagen type XXVII alpha 1 chain
Syndromic hereditary optic neuropathy
Early-onset posterior subcapsular cataract
Early-onset lamellar cataract
Congenital hypothyroidism (CH) is defined as a thyroid hormone deficiency present from birth.
Congenital hypothyroidism
Heavy chain amyloidosis
AH amyloidosis
tubulin tyrosine ligase like 5
proliferating cell nuclear antigen
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
DRC4
growth arrest specific 8
KCa3.1
hIKCa1
hKCa4
hSK4
intermediate conductance calcium-activated potassium channel
small conductance calcium-activated potassium channel 4
potassium calcium-activated channel subfamily N member 4
NUP84
nuclear pore complex protein Nup107
nucleoporin 107
CD16a
Fc gamma receptor IIIa
Fc fragment of IgG receptor IIIa
DALRD1
arginine tRNA ligase 1, cytoplasmic
arginyl-tRNA synthetase
Porphyria cutanea tarda type I
Sporadic porphyria cutanea tarda
Porphyria cutanea tarda type II
Familial porphyria cutanea tarda
Hemicrania continua
Charcot-Marie-Tooth disease type 2S
CSCR
Central serous chorioretinopathy
Baroreflex failure
46,XY disorder of sex development due to testicular 17,20-desmolase deficiency
46,XY disorder of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect
Hyperinsulinemic hypoglycaemia
Hyperostosis cranialis interna
Hypothalamic adipsic hypernatraemia syndrome
Lymphoplasmacytic lymphoma without Immunoglobulin M production
Lymphoplasmacytic lymphoma without IgM production
MHAC
NDE1-related microhydranencephaly is a rare, hereditary syndrome with a central nervous system malformation as major feature characterized by extreme microcephaly and growth restriction, severe motor delay and mental retardation, and typical radiological findings of gross dilation of the ventricles resulting from the absence (or severe delay in the development) of cerebral hemispheres, hypoplasia of the corpus callosum, cerebellum, and brainstem. Associated features are thin bones and scalp rugae.
NDE1-related microhydranencephaly
NMC
NUT midline carcinoma
Puerperal psychosis
Postpartum psychosis
Spontaneous cerebrospinal fluid leak
Spontaneous intracranial hypotension
Classic SPS
Classic stiff person syndrome
X-linked dominant erythropoietic protoporphyria
X-linked dominant protoporphyria
XLDPP
XLPP
X-linked erythropoietic protoporphyria
Paratyphoid fever
Familial orthostatic tachycardia due to norepinephrine transporter deficiency
Orthostatic intolerance due to NET deficiency
POTS due to NET deficiency
Postural orthostatic tachycardia syndrome due to NET deficiency
ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor
HIV-related cancer
HIV-associated cancer
use http://www.orpha.net/ORDO/Orphanet_443291 with label: HIV-associated cancer
OBSOLETE: HIV-related oropharyngeal cancer
OBSOLETE: HIV-related hepatocellular carcinoma
OBSOLETE: HIV-related vulvovaginal cancer
OBSOLETE: HIV-related Non-Hodgkin lymphoma
Focal stiff-person syndrome
Stiff leg syndrome
Focal stiff limb syndrome
CID due to PGM3 deficiency
Combined immunodeficiency due to PGM3 deficiency
PGM3-related congenital disorder of glycosylation
gene and characterized by neonatal to childhood onset of recurrent bacterial and viral infections, inflammatory skin diseases, atopic dermatitis and atopic diatheses, and marked serum IgE elevation. Early neurologic impairment is evident including developmental delay, intellectual disability, ataxia, dysarthria, sensorineural hearing loss, myoclonus and seizures.
PGM3-CDG
Familial nonpolyposis colon cancer
Familial nonpolyposis colorectal cancer
Hereditary nonpolyposis colorectal cancer
Hereditary nonpolyposis colon cancer (HNPCC) is a cancer-predisposing condition characterized by the development of colorectal cancer not associated with colorectal polyposis, endometrial cancer, and various other cancers (such as malignant epithelial tumor of ovary, gastric, biliary tract, small bowel, and urinary tract cancer) that are frequently diagnosed at an early age.
Hereditary nonpolyposis colon cancer
DNAJB2-related CMT2
DNAJB2-related Charcot-Marie-Tooth disease type 2
Congenital nephrosis-cerebral ventriculomegaly syndrome
VMCKD
Ventriculomegaly-cystic kidney disease
MFDA
Mandibulofacial dysostosis with alopecia
Hypotrichosis, Marie Unna type
MUHH
Marie Unna congenital hypotrichosis
Marie Unna hereditary hypotrichosis (MUHH) is a rare autosomal dominant hair loss disorder characterized by the absence or scarcity of scalp hair, eyebrows, and eyelashes at birth; coarse and wiry hair during childhood; and progressive hair loss beginning around puberty.
Marie Unna hereditary hypotrichosis
11q22.2-q22.3 deletion syndrome
Monosomy 11q22.2-q22.3
Monosomy 11q22.2q22.3
11q22.2q22.3 microdeletion syndrome is a rare chromosomal anomaly characterized by mild intellectual disability, developmental delay, short stature, hypotonia and dysmorphic facial features. Anxiety and short attention span have also been reported.
11q22.2q22.3 microdeletion syndrome
COXPD23
Combined oxidative phosphorylation defect type 23
46,XX ovarian dysgenesis-short stature syndrome
Monosomy 20q11
20q11.2 microdeletion syndrome is a rare, genetic, syndromic intellectual disability characterized by psychomotor delay, hypotonia, feeding difficulties, failure to thrive, anomalies of the hands and feet (clinodactyly, camptodactyly, brachydactyly, feet malposition), and craniofacial dysmorphism. Associated prenatal growth retardation, and gastrointestinal, heart and eye anomalies have been reported.
20q11.2 microdeletion syndrome
Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome
Cerebellofaciodental syndrome
Cerebellar-facial-dental syndrome
CHOPS syndrome
Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome
CIDE-3
Fsp27
cell death inducing DFFA like effector c
COPA syndrome
Autoimmune interstitial lung disease-arthritis syndrome
SPG73
Autosomal dominant spastic paraplegia type 73 is a pure form of hereditary spastic paraplegia characterized by adult onset of crural spastic paraparesis, hyperreflexia, extensor plantar responses, proximal muscle weakness, mild muscle atrophy, decreased vibration sensation at ankles, and mild urinary dysfunction. Foot deformities have been reported to eventually occur in some patients. No abnormalities are noted on brain magnetic resonance imaging and peripheral nerve conduction velocity studies.
Autosomal dominant spastic paraplegia type 73
HSL
lipase E, hormone sensitive type
Kv3.1
potassium voltage-gated channel subfamily C member 1
Hereditary amyloidosis
PLACK syndrome
Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome
BIR1
GIRK2
KATP2
Kir3.2
hiGIRK2
potassium voltage-gated channel subfamily J member 6
Idiopathic phalangeal acroosteolysis
Idiopathic phalangeal acro-osteolysis
COXPD24
Combined oxidative phosphorylation defect type 24 is a rare mitochondrial oxidative phosphorylation disorder characterized by variable phenotype, including developmental delay with psychomotor regression, intellectual disability, epilepsy, Leigh syndrome, non-syndromic hearing loss, visual impairment and severe myopathy. Decreased activity of mitochondrial respiratory complexes and lactic acidosis are common findings, and diffuse cerebral atrophy may be associated.
Combined oxidative phosphorylation defect type 24
Evans syndrome associated with primary immunodeficiency
TPPII deficiency
TPPII-related immunodeficiency, autoimmunity, and neurodevelopmental delay with impaired glycolysis and lysosomal expansion disease
TRIANGLE disease
Tripeptidyl-peptidase II deficiency
Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome
Familial chylomicronemia syndrome
IFT54
MIP-T3
MIPT3
microtubule interacting protein that associates with TRAF3
TRAF3 interacting protein 1
HUMPMKI
PMK
PMKA
phosphomevalonate kinase
MPD
diphosphomevalonate decarboxylase
mevalonate pyrophosphate decarboxylase
mevalonate diphosphate decarboxylase
farnesyl pyrophosphate synthetase, dimethylallyltranstransferase, geranyltranstransferase
farnesyl diphosphate synthase
BRCA1-associated protein required for ATM activation protein 1
BRCA1 associated ATM activator 1
cytochrome c oxidase subunit 6A1
APOP-1
MGC2562
apoptogenic protein 1
apoptogenic 1, mitochondrial
synaptotagmin 2
ARSDR1
MDT1
SDR7C1
androgen-regulated short-chain dehydrogenase/reductase 1
short chain dehydrogenase/reductase family 7C, member 1
retinol dehydrogenase 11
CARK
TNNI3 interacting kinase
MMS21
NSE2
ZMIZ7
zinc finger, MIZ-type containing 7
NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase
isoleucine tRNA ligase 2, mitochondrial
isoleucyl-tRNA synthetase 2, mitochondrial
CLAN
CLAN1
CLANA
CLANB
CLANC
CLAND
CLR2.1
NOD-like receptor C4
ipaf
nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4
NLR family CARD domain containing 4
BS69
zinc finger MYND-type containing 11
KIAA0042
kinesin family member 14
NY-BR-85
shugoshin 1
DNA damage-targeting VCP (p97) adaptor
DVC1
Spartan
SprT-like domain at the N terminus
SprT-like N-terminal domain
component of oligomeric golgi complex 2
Pseudohypoaldosteronism
ribose 5-phosphate epimerase
ribose 5-phosphate isomerase A
SHK
sedoheptulokinase
Caudal regression-sirenomelia spectrum is a group of rare genetic developmental defect during embryogenesis disorders characterized by varying degrees of caudal abdomen, pelvic, renal, anorectal, urogenital and/or lumbosacral spine malformations, with or without lower limb fusion. Phenotype is highly variable ranging from minor forms with isolated coccygeal agenesis to severe forms presenting with a single rudimentary limb. Central nervous system anomalies have also been reported.
Caudal regression-sirenomelia spectrum
KCC2
KIAA1176
solute carrier family 12 member 5
CID due to LRBA deficiency
Combined immunodeficiency due to LRBA deficiency
3-methylglutaconic aciduria-cataract-neurologic involvement-neutropenia syndrome
MGA7
3-methylglutaconic aciduria type 7
Combined cerebellar and peripheral ataxia-hearing loss-diabetes mellitus syndrome
Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome
LEM domain containing 7
LEMD7
Lem4
ankyrin repeat and LEM domain containing 2
LGMD due to POMK deficiency
Limb-girdle muscular dystrophy due to POMK deficiency is a form of limb-girdle muscular dystrophy presenting in infancy with muscle weakness and delayed motor development (eventually learning to walk at 18 months of age) followed by progressive proximal weakness, pseudohypertrophy of calf muscles, mild facial weakness, and borderline intelligence.
Limb-girdle muscular dystrophy due to POMK deficiency
CPD
Cupidin
DFNA68
HOMER-2
HOMER-2A
HOMER-2B
Vesl-2
homer scaffold protein 2
Secondary vasculitis
matrix metallopeptidase 21
DIPB
MC7
tripartite motif containing 44
MGCR1
MGCR1-PEN
probable tumor suppressor protein MN1
MN1 proto-oncogene, transcriptional regulator
Neonatal hemochromatosis (NH) is an iron storage disorder present at birth. It is a distinct entity that differs from adult hemochromatosis with respect to its molecular origin.
Neonatal hemochromatosis
Kv1.2
potassium voltage-gated channel subfamily A member 2
EEF1AL
HS1
eukaryotic translation elongation factor 1 alpha 2
GGR
glucagon receptor
AGM1
PAGM
acetylglucosamine phosphomutase
phosphoglucomutase 3
PKACg
protein kinase cAMP-activated catalytic subunit gamma
SDR10E1
short chain dehydrogenase/reductase family 10E, member 1
fatty acyl-CoA reductase 1
Marchiafava-Micheli disease
PNH
Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal hematopoietic stem cell disorder characterized by corpuscular hemolytic anemia, bone marrow failure and frequent thrombotic events.
Paroxysmal nocturnal hemoglobinuria
PMCA2
plasma membrane Ca2+ pump 2
plasma membrane calcium-transporting ATPase 2
ATPase plasma membrane Ca2+ transporting 2
Primary immunodeficiency with multifaceted aberrant lymphoid immunity
NIK deficiency
DOCK2 deficiency
Susceptibility to localized juvenile periodontitis
AD-SPG9A
Cataracts-motor neuropathy-short stature-skeletal anomalies syndrome
Spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome
Autosomal dominant spastic paraplegia type 9A
AD-SPG9B
Autosomal dominant spastic paraplegia type 9B
AR-SPG9B
Autosomal recessive spastic paraplegia type 9B
IgG4-related sclerosing cholangitis
Sclerosing cholangitis
Secondary sclerosing cholangitis
KTOC
Odontogenic keratocystoma
Keratocystic odontogenic tumor
Mitochondrial pyruvate carrier deficiency
Cortical visual impairment
Cerebral visual impairment
Hemochromatosis type 5
Lipoyl transferase 2 deficiency
Biological anomaly without phenotypic characterization
PPAP
Polymerase proofreading-related adenomatous polyposis
Isolated neck extensor myopathy
Idiopathic dropped head syndrome
Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome
TACH syndrome
Tremor-ataxia-central hypomyelination syndrome
collagen type XIII alpha 1 chain
COXPD25
Combined oxidative phosphorylation defect type 25 is a rare mitochondrial oxidative phosphorylation disorder with decreased respiratory complex I and IV enzyme activities, characterized by hypotonia, global developmental delay, neonatal onset of progressive pectus carinatum without other skeletal abnormalities, poor growth, sensorineural hearing loss, dysmorphic features and brain abnormalities such as cerebral atrophy, quadriventricular dilatation and thin corpus callosum posteriorly.
Combined oxidative phosphorylation defect type 25
Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to NAGLU mutation
CMT2V
Hereditary adult-onset painful axonal polyneuropathy
Autosomal dominant Charcot-Marie-Tooth disease type 2V
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
Progressive scapulohumeroperoneal distal myopathy
19p13.3 microduplication syndrome is a rare, genetic, syndromic intellectual disability characterized by intrauterine growth retardation, microcephaly, hypotonia, motor and neurodevelopmental delay, speech delay, intellectual disability, and mild dysmorphic features.
19p13.3 microduplication syndrome
Partial duplication of chromosome 19p
Partial trisomy of chromosome 19p
Partial trisomy of the short arm of chromosome 19
Partial duplication of the short arm of chromosome 19
ASCT1 deficiency
Spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
Hemophilia is a genetic disorder characterized by spontaneous hemorrhage or prolonged bleeding due to factor VIII or IX deficiency.
Hemophilia
CDG syndrome type Iz
CDG-Iz
CDG1Z
Carbohydrate deficient glycoprotein syndrome type Iz
Congenital disorder of glycosylation type 1z
gene and characterized by epileptic encephalopathy, global developmental delay, normocytic anemia and anisopoikilocytosis. Loss of acquired skills in early childhood is present and natural disease course can be lethal in early childhood.
CAD-CDG
Zika virus infection
mosquito-born virus disease characterized by a clinical course that may be asymptomatic or mild with fever, conjunctivitis, muscle and joint pain, headache, exanthema, but may also be associated with severe neurological (meningitis, meningoencephalitis and myelitis) and auto-immune (Guillain-Barre syndrome) complications, as well as a potential increase of birth defects (microcephaly) if the infection occurs during pregnancy.
Zika virus disease
Brachyolmia, Hobaek/Toledo type
Brachyolmia, recessive type is a form of brachyolmia (see this term), a group of rare genetic skeletal disorders, characterized by short-trunked short stature with platyspondyly and scoliosis. Corneal opacities and precocious calcification of the costal cartilage are rare syndromic components. Premature pubarche may occur.
Autosomal recessive brachyolmia
Lichtenstein-Knorr syndrome
Progressive autosomal recessive ataxia-sensorineural hearing loss syndrome
SCAR19
Progressive autosomal recessive ataxia-deafness syndrome
Isolated focal non-epidermolytic palmoplantar keratoderma
Regressive spondylometaphyseal dysplasia is a rare, primary bone dysplasia characterized by mild short stature, rhizomelic shortening of the arms and legs, bowing of long bones with widened and irregular metaphyses, thoracolumbar kyphosis, and metacarpal shortening. A marked improvement of the radiologic skeletal features is typical. Pelger-Huet anomaly (i.e. dumbbell shape bilobed nuclei of neutrophils) is a characteristic hematological feature of this disease.
Regressive spondylometaphyseal dysplasia
Ectopia cordis
ALRP
CVARP
MCARP
ankyrin repeat domain 1
APC-binding protein EB1
EB1
EB2
RP1
microtubule associated protein RP/EB family member 2
Familial infantile gigantism due to a point mutation
X-LAG (X-linked acrogigantism) due to a point mutation
X-linked acrogigantism due to a point mutation
M40
OK/SW-cl.56
Tubb5
beta1-tubulin
class I beta-tubulin
tubulin beta class I
Familial infantile gigantism due to Xq26 microduplication
Familial infantile gigantism due to dup(X)q(26)
X-LAG (X-linked acrogigantism) due to dup(X)q(26)
X-linked acrogigantism due to Xq26 microduplication
Genetic primary orthostatic hypotension
histamine N-methyltransferase
KIAA0790
SH3D6A
SAM and SH3 domain containing 1
#946; receptor type V
APOER
CD91
LRP1A
LDL receptor related protein 1
CD120b
TNF-R-II
TNF-R75
TNFBR
TNFR80
TNF receptor superfamily member 1B
T-cell-specific surface glycoprotein
CD28 molecule
ET-A
ETA-R
hET-AR
endothelin receptor type A
GTPBG3
MSS1
MTGP1
THDF1
GTP binding protein 3, mitochondrial
katanin regulatory subunit B1
minichromosome maintenance 9 homologous recombination repair factor
hcp-1
mitosin
centromere protein F
BRF
TFIIIB90
hBRF
BRF1, RNA polymerase III transcription initiation factor subunit
AF5Q31
ALL1 fused gene from 5q31
MCEF
AF4/FMR2 family member 4
HEP-COP
proxenin
xenin
coatomer protein complex subunit alpha
CPT1P
CPTIC
carnitine palmitoyltransferase 1C
calpastatin
TPPII
tripeptidyl peptidase 2
SLM5
asparagine tRNA ligase 2, mitochondrial (putative)
asparaginyl-tRNA synthetase 2, mitochondrial
cytovillin 2
ezrin
synaptonemal complex protein 3
keratin 25
RNF206
TRIP
ring finger protein 206
TRAF interacting protein
CFAP256
GlyBP
JBTS25
ROC22
glycine, glutamate, thienylcyclohexylpiperidine binding protein
centrosomal protein 104
JBTS26
KATNIP
KIAA0556
GIST
Gastrointestinal stromal sarcoma
Gastrointestinal stromal tumor (GIST) is the most common mesenchymal neoplasm of the gastrointestinal (GI) tract, typically presenting in adults over the age of 40 (mean age 63), and only rarely in children, in various regions of the GI tract, most commonly the stomach or small intestine but also less commonly in the esophagus, appendix, rectum and colon. GISTs can be asymptomatic or present with various non-specific signs, depending on the location and size of tumor, such as loss of appetite, anemia, weight loss, fatigue, abdominal discomfort or fullness, nausea, vomiting, as well as an abdominal mass, blood in stool, and intestinal obstruction. GISTs can also be seen in familial syndromes such as Carney triad and neurofibromatosis type 1.
Gastrointestinal stromal tumor
KREV-1
SMGP21
RAP1A, member of RAS oncogene family
Hepatoblastoma (HB) is a malignant hepatic tumor and is the most common pediatric liver cancer. It is characterized by anorexia, weight loss and an enlarged abdomen. HB is more common in patients with familial adenomatous polyposis (FAP), and can occur in patients with other pre-existing liver conditions. About 5 % of HB cases are associated with genetic factors, especially overgrowth syndromes, such as Beckwith-Wiedemann syndrome (BWS) or hemihypertrophy.
Hepatoblastoma
CD191
CKR-1
MIP1aR
C-C motif chemokine receptor 1
NKG2-F
killer cell lectin like receptor C4
IL12A antisense RNA 1
A-LAP
ARTS-1
ERAAP1
KIAA0525
PILS-AP
adipocyte-derived leucine aminopeptidase
aminopeptidase regulator of TNFR1 shedding
puromycin-insensitive leucyl-specific aminopeptidase
endoplasmic reticulum aminopeptidase 1
Pleural empyema
ANKCLB
HSP78
SKD3
ankyrin-repeat containing bacterial clp fusion
suppressor of potassium transport defect 3
ClpB homolog, mitochondrial AAA ATPase chaperonin
Scedosporiosis
Snakebite envenomation
Symptomatic form of fragile X syndrome in female carrier
IgG4-related kidney disease
IgG4-related periaortitis
IgG4-related aortitis
Idiopathic hypertrophic pachymeningitis
IgG4-related pachymeningitis
IgG4-related sialadenitis
Küttner tumor
IgG4-related submandibular gland disease
IgG4-related ophthalmic disease
IgG4-related eosinophilic angiocentric fibrosis
Eosinophilic angiocentric fibrosis
NRSF
XBR
neuron-restrictive silencer factor
RE1 silencing transcription factor
phosphatidylinositol glycan anchor biosynthesis class Y
NET
norepinephrine transporter
solute carrier family 6 member 2
FAM22H
NUT
nuclear protein in testis
NUT midline carcinoma family member 1
HUNK1
HUNKI
MCAP
chromosome-associated protein
bromodomain containing 4
CNK2
KIAA0902
KSR2
connector enhancer of kinase suppressor of Ras 2
ERdj6
HP58
P58
P58IPK
endoplasmic reticulum DNA J domain-containing protein 6
interferon-induced, double-stranded RNA-activated protein kinase inhibitor
protein kinase inhibitor of 58 kDa
DnaJ heat shock protein family (Hsp40) member C3
AMP deaminase deficiency
Myoadenylate deaminase deficiency
Adenosine monophosphate (AMP) deaminase deficiency is a metabolic disorder for which two forms have been described. Lack of activity of the erythrocyte isoform of AMP deaminase has been described in subjects with low plasma uric acid levels without obvious clinical relevance and will not be described further. Myoadenylate deaminase deficiency is an inherited disorder of muscular energy metabolism with a lack of AMP deaminase activity in skeletal muscle. It is characterised by exercise-induced muscle pain, cramps and/or early fatigue.
Adenosine monophosphate deaminase deficiency
Heterotaxy syndrome
Lateralization defect
Visceral heterotaxy
a normally lateral organ is centrally located).
Heterotaxia
kinesin light chain 2
Polyclonal hyperviscosity syndrome
RAP1
TERF2 interacting protein
Gem
geminin, DNA replication inhibitor
40S ribosomal protein S15
RIG
S15
homolog of rat insulinoma
insulinoma protein
ribosomal protein S15
Aiolos
IKAROS family zinc finger 3
Primary cutaneous plasmacytosis
Cutaneous pseudolymphoma
Familial congenital nasolacrimal duct obstruction
75 kDa glucose-regulated protein
GRP75
PBP74
Stress-70 protein, mitochondrial
mortalin
mortalin2
mot-2
mthsp75
heat shock protein family A (Hsp70) member 9
X-linked lissencephaly with ambiguous genitalia
X-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome
XLAG (X-linked lissencephaly with abnormal genitalia) syndrome
X-linked lissencephaly with abnormal genitalia (XLAG) is a rare, genetic, central nervous system malformation disorder characterized, in males, by lissencephaly (with posterior predominance and moderately thickened cortex), complete absence of corpus callosum, neonatal-onset (mainly perinatal) intractable seizures, postnatal microcephaly, severe hypotonia, poor responsiveness and hypogonadism (micropenis, hypospadias, cryptorchidism, small scrotal sac). Defective temperature regulation and chronic diarrhea may be additionally observed.
X-linked lissencephaly with abnormal genitalia
Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome
Au-Kline syndrome
Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation
Congenital absence of pain with severe intellectual disability
Congenital analgesia with severe intellectual disability
Congenital insensitivity to pain with preserved temperature sensation
Congenital insensitivity to pain with severe non-progressive cognitive delay
Congenital insensitivity to pain with severe intellectual disability
SCAR17
Spinocerebellar ataxia autosomal recessive type 17
Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency
Polyendocrine-polyneuropathy syndrome
FEOM
Congenital fibrosis of extraocular muscles
CHED
HOVO2
ovo like zinc finger 2
Acquired ichthyosis
FAMIN
fatty acid metabolismimmunity nexus
fatty acid metabolismâimmunity nexus
laccase domain containing 1
CARD containing molecule enhancing NF-kB
CARD-containing apoptotic signaling protein
CARD-containing proapoptotic protein
CARD-like apoptotic protein
CARMEN
CIPER
CLAP
c-E10
caspase-recruiting domain-containing protein
mE10
B cell CLL/lymphoma 10
Miyoshi myopathy (MM) is a distal myopathy characterized by weakness in the distal lower extremity posterior compartment (gastrocnemius and soleus muscles) and associated with difficulties in standing on tip toes.
Miyoshi myopathy
Idiopathic neonatal atrial flutter (AFL) is a rare rhythm disorder, characterized by sustained tachycardia in newborns and infants with an atrial rate often at around 440 beats/minute (range 340-580). AFL may manifest as asymptomatic tachycardia, congestive heart failure or hydrops.
Idiopathic neonatal atrial flutter
Incessant infant ventricular tachycardia is a rare type of ventricular tachycardia (VT) characterized by the presence of tachycardia originating from the ventricles, observed for more than 10% of a 24 hour monitoring period. Patients are either asymptomatic or present congestive heart failure.
Incessant infant ventricular tachycardia
Acquired Creutzfeldt-Jakob disease
PMA
Progressive muscular atrophy
Anti-p200 pemphigoid
Plasma cell leukemia
Adie syndrome
Tonic pupil-tendon areflexia syndrome
Holmes-Adie syndrome
Endometrioid carcinoma of ovary
Variably protease-sensitive prionopathy
Kuru
H-type tracheoesophageal fistula
Isolated tracheoesophageal fistula
Pleomorphic salivary gland adenoma
Avian influenza
NTHL1-related AFAP
NTHL1-related attenuated FAP
NTHL1-related attenuated familial adenomatous polyposis
use http://www.orpha.net/ORDO/Orphanet_169361 with label: Immune dysregulation disease with immunodeficiency
OBSOLETE: Type 1 interferonopathy with immunodeficiency
Corticobasal syndrome (CBS) is a rare neurodegenerative disease characterized by multifaceted motor system dysfunctions and cognitive defects such as asymmetric rigidity, bradykinesia, limb apraxia, and visuospatial dysfunction.
Corticobasal syndrome
AGR16
Gpcr13
sphingosine-1-phosphate receptor 2
Ichthyosis bullosa of Siemens
SEI
Superficial epidermolytic ichthyosis (SEI) is a rare keratinopathic ichthyosis (KI; see this term) characterized by the presence of superficial blisters and erosions at birth.
Superficial epidermolytic ichthyosis
K-REV
RAL1B
RAP1B, member of RAS oncogene family
DNase1 hypersensitivity, chromosome 6, site 1
KIAA1421
vacuolar protein sorting 13 homolog C
solute carrier family 9 member A3
COX
COX8-2
COX8L
VIII
VIII-L
cytochrome c oxidase subunit 8A
Deletion 1p35.2
Monosomy 1p35.2
1p35.2 microdeletion syndrome
IMNEPD
Infantile multisystem neurologic-endocrine-pancreatic disease
HSAN1E
HSN1E
Hereditary sensory neuropathy-sensorineural hearing loss-dementia syndrome
Hereditary sensory neuropathy-deafness-dementia syndrome
Xq28 contiguous gene deletion syndrome
X-linked myotubular myopathy-abnormal genitalia syndrome is a rare chromosomal anomaly, partial deletion of the long arm of chromosome X, characterized by a combination of clinical manifestations of X-linked myotubular myopathy and a 46,XY disorder of sex development. Patients present with severe form of congenital myopathy and abnormal male genitalia.
X-linked myotubular myopathy-abnormal genitalia syndrome
Hereditary neuroendocrine tumor of small bowel
Hereditary neuroendocrine tumor of small intestine
Polyglucosan body myopathy type 2
URCC
ring finger protein 43
period circadian regulator 3
VIPL
lectin, mannose binding 2 like
KIAA0208
dishevelled segment polarity protein 3
KIAA0095
nucleoporin 93
KIAA0225
nucleoporin 205
VGR1
bone morphogenetic protein 6
lipoyl(octanoyl) transferase 2
CGI-129
SLC54A1
mitochondrial pyruvate carrier 1
Ichthyosis congenita, Harlequin type
Ichthyosis fetalis, Harlequin type
Harlequin ichthyosis (HI) is the most severe variant of autosomal recessive congenital ichthyosis (ARCI; see this term). It is characterized at birth by the presence of large, thick, plate-like scales over the whole body associated with severe ectropion, eclabium, and flattened ears, that later develops into a severe scaling erythroderma.
Harlequin ichthyosis
GATD4
carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase
Autosomal dominant mitochondrial myopathy with exercise intolerance
Pseudohypoparathyroidism with Albright hereditary osteodystrophy
Pseudohypoparathyroidism without Albright hereditary osteodystrophy
PPP1R143
protein phosphatase 1, regulatory subunit 143
solute carrier family 9 member A1
Congenital nemaline myopathy
Thrombocytopenia-anasarca-fever-renal insufficiency-organomegaly syndrome
TAFRO syndrome
SGF
Isolated splenogonadal fusion
Invasive candidiasis-deep dermatophytosis syndrome
Predisposition to invasive fungal disease due to CARD9 deficiency
Actinomycosis
RPA1
RPO1-4
RNA polymerase I subunit A
5'-(N(7)-methyl 5'-triphosphoguanosine)-[mRNA] diphosphatase
HINT-5
HSL1
HSPC015
decapping enzyme, scavenger
myosin XVIIIB
COQ4-related neonatal encephalomyopathy
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
ASCT1
SATT
alanine/serine/cysteine/threonine transporter
solute carrier family 1 member 4
ANOAC
Axonal neuropathy-optic atrophy-cognitive deficit syndrome
Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome
Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome
Syndromic sensorineural deafness due to COXPD
Syndromic sensorineural hearing loss due to COXPD
Syndromic sensorineural deafness due to combined oxidative phosphorylation defect
X-linked intellectual disability-short stature-overweight syndrome is a multiple congenital anomalies syndrome characterized by borderline to severe intellectual disability, speech delay, short stature, elevated body mass index, a pattern of truncal obesity (reported in older males), and variable neurologic features (e.g. hypotonia, tremors, gait disturbances, behavioral problems, and seizure disorders). Less common manifestations include microcephaly, microorchidism and/or microphallus. Dysmorphic features have been reported in some patients but no consitent pattern has been noted.
X-linked intellectual disability-short stature-overweight syndrome
CCSK
Clear cell sarcoma of kidney is a rare, primary, genetic renal tumor usually characterized by a unilateral, unicentric, morphologically diverse tumor that arises from the renal medulla and has a tendency for vascular invasion. Clinically it presents with a palpable abdominal mass, abdominal or flank pain, hematuria, anemia and/or fatigue. Metastatic spread to lymph nodes, bones, lungs, retroperitoneum, brain and liver is common at time of diagnosis and therefore bone pain, cough or neurological compromise may be associated. Metastasis to unusual sites, such as the scalp, neck, nasopharynx, axilla, orbits and epidural space, have been reported.
Clear cell sarcoma of kidney
X-linked intellectual disability-hypotonia-movement disorder syndrome
EPM9
PME type 9
Progressive myoclonic epilepsy due to LMNB2 deficiency
Progressive myoclonus epilepsy type 9
Progressive myoclonic epilepsy type 9
Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome
Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome
Microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
Megalencephaly-severe kyphoscoliosis-overgrowth syndrome
Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome
ITPA-related encephalopathy
Complex lethal osteochondrodysplasia, Symoens-Barnes-Gistelinck type
Complex lethal osteochondrodysplasia
Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
Multiple mitochondrial dysfunctions syndrome type 4
FMLP
FPR
formyl peptide receptor 1
FTDCR1B
HSNIK
NIK
serine/threonine protein-kinase
mitogen-activated protein kinase kinase kinase 14
KIAA0209
dedicator of cytokinesis 2
MINDS syndrome
Smith-Kingsmore syndrome
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
DFNA71
KIAA0856
RC3
rabconnectin 3
Dmx like 2
BIT1
Bcl-2 inhibitor of transcription
CFAP37
CGI-147
PTH2
cilia and flagella associated protein 37
peptidyl-tRNA hydrolase 2
hDrn1
CWF19 like 1, cell cycle control (S. pombe)
BP1
DLX8
distal-less homeobox 4
inositol polyphosphate multikinase
CHC22
CLH22
CLTD
clathrin heavy chain like 1
CSBP
TUNP
transformation upregulated nuclear protein
heterogeneous nuclear ribonucleoprotein K
Hek8
EPH receptor A4
RHOM1
TTG1
LIM domain only 1
ZNF912
PLAG1 zinc finger
NTH1
OCTS3
nth like DNA glycosylase 1
KIAA0545
signal induced proliferation associated 1 like 3
HNT
hindsight homolog (drosophila)
ras responsive element binding protein 1
KIAA0079
SEC24 homolog C, COPII coat complex component
Idiopathic SCAD
Idiopathic spontaneous coronary artery dissection
Composite hemangioendothelioma
Retiform hemangioendothelioma
Dabska tumor
Primary intralymphatic angioendothelioma
Congenital hemangioma
Partially involuting congenital hemangioma
Mixed cystic lymphangioma
Mixed cystic lymphatic malformation
SCA41
Spinocerebellar ataxia type 41 is a rare autosomal dominant cerebellar ataxia type III disorder characterized by adult-onset progressive imbalance and loss of coordination associated with an ataxic gait. Mild atrophy of the cerebellar vermis has been reported on brain magnetic resonance imaging.
Spinocerebellar ataxia type 41
SCA42
Spinocerebellar ataxia type 42 is a rare, autosomal dominant cerebellar ataxia characterized by pure and slowly progressive cerebellar signs combining gait instability, dysarthria, nystagmus, saccadic eye movements and diplopia. Less frequent clinical signs and symptoms include spasticity, hyperreflexia, decreased distal vibration sense, urinary urgency or incontinence and postural tremor.
Spinocerebellar ataxia type 42
Vascular tumor with associated anomalies
Rare capillary malformation with associated anomalies
Common cystic lymphatic malformation
Rare combined vascular malformation
Primary lymphedema with associated anomalies
Rare vascular malformation of major vessels
TF2E2
TFIIE beta subunit
TFIIE-B
Transcription initiation factor IIE subunit beta
general transcription factor IIE subunit 2
APE
Akt-phosphorylation enhancer
GIV
GRDN
Galpha-interacting vesicle-associated protein
HkRP1
girders of actin filaments
girdin
coiled-coil domain containing 88A
AOA4
Ataxia-oculomotor apraxia type 4
CALLA
CD10
NEP
enkephalinase
neprilysin
neutral endopeptidase
membrane metalloendopeptidase
SED, Stanescu type
Spondyloepiphyseal dysplasia, Stanescu type
SPG75
Autosomal recessive spastic paraplegia type 75 is a rare, complex hereditary spastic paraplegia characterized by an early onset and slow progression of spastic paraplegia associated with cerebellar signs, nystagmus, peripheral neuropathy, extensor plantar responses and borderline to mild intellectual disability. Additional features of hypo- or areflexia, mild upper limb involvement and significant visual impairment (optic atrophy, vision loss, astigmatism) have been reported.
Autosomal recessive spastic paraplegia type 75
Developmental delay-short stature-dysmorphic features-sparse hair syndrome
Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome
X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome
7q36.3 microduplication syndrome
Corpus callosum agenesis-macrocephaly-hypertelorism syndrome
BCG1
HCA10
JCL-1
MAGE-D2
MAGED
MGC8386
breast cancer associated gene 1
hepatocellular carcinoma associated protein
hepatocellular carcinoma-associated protein HCA10
melanoma-associated antigen D2
MAGE family member D2
MYOD
PUM
bHLHc1
myoblast determination protein 1
myogenic differentiation 1
BM28
DFNA70
KIAA0030
cdc19
mitotin
minichromosome maintenance complex component 2
DFNA66
MGC-24
MUC-24
deafness, autosomal dominant 66
CD164 molecule
Cdc14A1
Cdc14A2
DFNB105
cdc14
cell division cycle 14A
SAS
sialic acid synthase
N-acetylneuraminate synthase
Immunodeficiency due to a complement cascade component deficiency
Immunodeficiency due to a complement regulatory deficiency
C1 inhibitor deficiency
Rare genetic capillary malformation
Troncular lymphatic malformation
Genetic primary lymphedema
Genetic complex vascular malformation with associated anomalies
Rare genetic vascular tumor
Rare genetic venous malformation
Lethal multiple congenital anomalies/dysmorphic syndrome
ADSL deficiency
Adenylosuccinase deficiency
Adenylosuccinate lyase deficiency (ADSL deficiency) is a disorder of purine metabolism characterized by intellectual disability, psychomotor delay and/or regression, seizures, and autistic features.
Adenylosuccinate lyase deficiency
QK3
QKI, KH domain containing RNA binding
Sterol C5-desaturase deficiency
Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease.
Lathosterolosis
CGI-92
coenzyme Q4
ISA2
iron-sulfur cluster assembly 2
DNA repair protein XRCC4
X-ray repair, complementing defective, repair in Chinese hamster
X-ray repair cross complementing 4
MRP-S
RP-S7
RPMS7
mitochondrial ribosomal protein S7
PP2A-Aalpha
PP2AA
PR65A
protein phosphatase 2, 65kDa regulatory subunit A
protein phosphatase 2A structural subunit A, alpha isoform
protein phosphatase 2A, regulatory subunit A, alpha isoform
protein phosphatase 2 scaffold subunit Aalpha
B56D
B56delta
protein phosphatase 2 regulatory subunit B'delta
NUT family member 2E
iroquois homeobox 2
THO2
THO complex 2
HECT and RLD domain containing E3 ubiquitin protein ligase family member 1
transmembrane anterior posterior transformation 1
KIAA1972
ring finger and SPRY domain containing 1
CAMP
CHAMP
chromosome alignment-maintaining phosphoprotein
chromosome alignment maintaining phosphoprotein 1
AFG2
ATPase family gene 2 homolog (S. cerevisiae)
SPAF
spermatogenesis associated 5
DNA polymerase alpha 1, catalytic subunit
protein phosphatase 1 regulatory subunit 15B
OVCA1
ovarian tumor suppressor candidate 1
diphthamide biosynthesis 1
S-MAG
SIGLEC-4A
SIGLEC4A
sialic acid binding Ig-like lectin 4A
myelin associated glycoprotein
transient receptor potential cation channel subfamily C member 3
Cav3.1
NBR13
calcium voltage-gated channel subunit alpha1 G
RXLI
Steroid sulfatase deficiency
X-linked ichthyosis
XLI
Recessive X-linked ichthyosis (RXLI) is a genodermatosis belonging to the Mendelian Disorders of Cornification (MeDOC) and characterized by generalized hyperkeratosis and scaling of the skin.
Recessive X-linked ichthyosis
KIAA2005
sterile alpha motif domain containing 9 like
CCP5
cytosolic carboxypeptidase 5
ATP/GTP binding protein like 5
NERCC
Nek8
NIMA related kinase 9
FRP-4
FRPHE
FRZB-2
frpHE
secreted frizzled related protein 4
tRNA splicing endonuclease subunit 15
KMT8C
PRISM
PR/SET domain 6
KIAA0551
TRAF2 and NCK interacting kinase
PCNSL
Primary CNS lymphoma
Primary brain lymphoma
Primary central nervous system lymphoma (PCNSL) is a rare nervous system tumor, predominantly due to diffuse large B-cell lymphoma, that involves brain, leptomeninges, eyes, or rarely spinal cord, in the absence of systemic diffusion at the time of diagnosis. It is characterized by a solitary tumor that, depending on its location, can lead to a variety of symptoms such as headache, nausea, vomiting (and other signs of raised intracranial pressure), focal neurologic deficits, neuropsychiatric and ocular symptoms, seizures and personality changes.
Primary central nervous system lymphoma
DSPG1
SLRR1A
biglycan proteoglycan
biglycan
FZD11
frizzled family member 11
smoothened, frizzled class receptor
G2AN
GIIA
GluII
KIAA0088
neutral alpha-glucosidase AB
glucosidase II alpha subunit
CLC4
ClC-4
chloride voltage-gated channel 4
human CDC45
cell division cycle 45
GUF1 homolog, GTPase
Familial rectal pain
Paroxysmal extreme pain disorder is a rare disorder of abnormal pain sensation.
Paroxysmal extreme pain disorder
KIAA1843
UNC-80
unc-80 homolog, NALCN channel complex subunit
GAS8 antisense RNA 1
LPA4
P2RY9
P2Y5-LIKE
P2Y9
lysophosphatidic acid receptor 4
Bloch-Siemens syndrome
Bloch-Sulzberger syndrome
Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS).
Incontinentia pigmenti
RSPH16A
TSARG6
radial spoke 16 homolog A (Chlamydomonas)
DnaJ heat shock protein family (Hsp40) member B13
tetratricopeptide repeat domain 25
CITK
CRIK
KIAA0949
STK21
serine/threonine kinase 21
citron rho-interacting serine/threonine kinase
SPPRS syndrome
Spastic paraplegia-psychomotor retardation-seizures syndrome
Spastic paraplegia-severe developmental delay-epilepsy syndrome is a rare, genetic, complex spastic paraplegia disorder characterized by an infantile-onset of psychomotor developmental delay with severe intellectual disability and poor speech acquisition, associated with seizures (mostly myoclonic), muscular hypotonia which may be noted at birth, and slowly progressive spasticity in the lower limbs leading to severe gait disturbances. Ocular abnormalities and incontinence are commonly associated. Other symptoms may include verbal dyspraxia, hypogenitalism, macrocephaly and sensorineural hearing loss, as well as dystonic movements and ataxia with upper limb involvement.
Spastic paraplegia-severe developmental delay-epilepsy syndrome
SBIDDS
Short stature-brachydactyly-obesity-global developmental delay syndrome
NET25
LEM domain containing 2
DYRK1A-related intellectual disability syndrome
DYRK1A-related intellectual disability syndrome due to a point mutation
Intellectual disability syndrome due to a DYRK1A point mutation
Verrucous hemangioma
Cutaneovisceral angiomatosis-thrombocytopenia syndrome
MLT
Multifocal lymphangioendotheliomatosis with thrombocytopenia
Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome
Kaposiform lymphangiomatosis
B-cell expansion with NF-kB and T-cell anergy disease
BENTA disease
Catastrophic APS
Catastrophic antiphospholipid syndrome
Benign metanephric tumour
Lethal skeletal dysplasia-fetal akinesia-contractures-thoracic dysplasia-pulmonary hypoplasia syndrome
NEK9-related lethal skeletal dysplasia is a rare, lethal, primary bone dysplasia characterized by fetal akinesia, multiple contractures, shortening of all long bones, short, broad ribs, narrow chest and thorax, pulmonary hypoplasia and a protruding abdomen. Short bowed femurs may also be associated.
NEK9-related lethal skeletal dysplasia
Neonatal alloimmune neutropenia
Primary dystonia, DYT27 type
CDG syndrome type IIL
CDG-IIL
CDG2L
Congenital disorder of glycosylation type 2l
Congenital disorder of glycosylation type IIL
COG6-CGD
Drug-induced methemoglobinemia
Acquired methemoglobinemia
Acetaminophen poisoning
Paracetamol poisoning
HFZ5
frizzled class receptor 5
use http://www.orpha.net/ORDO/Orphanet_101939 with label: Rare parenchymal liver disease
OBSOLETE: Disorder with acute infantile liver failure
Fever-associated acute infantile liver failure syndrome
Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome
Familial gastric type 1 neuroendocrine tumor
Familial CODA
Familial cavitary optic disc anomaly
Immune-mediated acquired neuromuscular junction disease
Oligodendrogliomas are cerebral tumors that are differentiated from other gliomas on the basis of their unique genetic characteristics and better response to chemotherapy. These tumors are classified according to their grade (low grade oligodendrogliomas: grade II of the WHO classification and anaplastic oligodendrogliomas: grade III of the WHO classification) and according to their pure or mixed histology (oligoastrocytomas).
Oligodendroglial tumor
Superficial pemphigus is a rare, autoimmune, bullous skin disease characterized clinically by multiple flaccid blisters, typically occurring on the face, scalp, trunk and extremities, which rapidly evolve into scaly, crusted, pruritic skin erosions. Histopathologically, superficial acantolytic blisters, as well as intercellular deposits of IgG autoantibodies directed against desmoglein 1 (and occasionally against desmoglein 3) in the upper epidermis, are observed.
Superficial pemphigus
Cicatricial pemphigoid
Mucosal pemphigoid
Mucosynechial pemphigoid
Mucous membrane pemphigoid is a bullous dermatosis characterised clinically by blistering of the mucous membranes followed by scarring, and immunologically by IgG, IgA and/or C3 deposits on the epidermal basement membrane.
Mucous membrane pemphigoid
Epidermolysis bullosa acquisita
Epidermolysis bullosa acquisita (EBA) is a subepidermal bullous dermatosis of autoimmune origin that was named as a result of its resemblance to hereditary forms of epidermolysis bullosa (HEB), most notably dystrophic HEB.
Acquired epidermolysis bullosa
Linear IgA dermatosis
OBSOLETE: Bullous systemic lupus erythematosus
Congenital PAI-1 deficiency
Congenital plasminogen activator inhibitor type 1 (PAI-1) deficiency is a rare genetic bleeding disorder characterized by premature lysis of hemostatic clots and a moderate bleeding tendency.
Congenital plasminogen activator inhibitor type 1 deficiency
HPFH-beta-thalassemia syndrome
Hereditary persistence of fetal hemoglobin (HPFH) associated with beta-thalassemia (see this term) is characterized by high hemoglobin (Hb) F levels and an increased number of fetal-Hb-containing-cells.
Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome
A gene in which a variation is used to monitor disorder activity and/or patient outcome.
biomarker tested in
Symptomatic form of HFE-related hereditary hemochromatosis
Symptomatic form of classic hemochromatosis
Symptomatic form of hemochromatosis type 1 is a rare, hereditary hemochromatosis characterized by inappropriately regulated intestinal iron absorption which leads to excessive iron storage in various organs and manifests with a wide range of signs and symptoms, including abdominal pain, weakness, lethargy, weight loss, elevated serum aminotransferase levels, increase in skin pigmentation, and/or arthropathy in the metacarpophalangeal joints. Other commonly associated manifestations include hepatomegaly, cirrhosis, liver fibrosis, hepatocellular carcinoma, restrictive cardiomyopathy and/or diabetes mellitus.
Symptomatic form of hemochromatosis type 1
NPR2
NPR2L
NPR2 like, GATOR1 complex subunit
CGTHBA
HS-40
MARE
NPR3
RMD11
conserved gene telomeric to alpha globin cluster
NPR3 like, GATOR1 complex subunit
kelch like family member 10
ARG
ARP
DNB1
KIAA0458
arginine-glutamic acid dipeptide repeats
Fetal encasement syndrome is a rare, lethal developmental defect during embryogenesis characterized by severe fetal malformations, including craniofacial dysmorphism (abnormal cyst in the cranial region, hypoplastic eyeballs, two orifices in the nasal region separated by a nasal septum, abnormal orifice replacing the mouth), omphalocele and immotile, hypoplastic limbs encased under an abnormal, transparent, membrane-like skin. Additional features include absence of adnexal structures of the skin on the outer aspect of the limbs, as well as underdeveloped skeletal muscles and bones. Association with tetralogy of Fallot, horse-shoe kidneys and diaphragm and lung lobulation defects is reported.
Fetal encasement syndrome
HT007
transmembrane protein 126B
CED-12
CED12
ELMO-2
KIAA1834
engulfment and cell motility 2
CAP2
cytoplasmic antiproteinase 2
serpin family B member 8
Fatal familial insomnia (FFI) is a very rare form of prion disease (see this term) characterized by subacute onset of insomnia showing as a reduced overall sleep time, autonomic dysfunction, and motor disturbances.
Fatal familial insomnia
Class I G6PD deficiency
Severe hemolytic anemia due to G6PD deficiency
Class I glucose-6-phosphate dehydrogenase deficiency
Genetic hemoglobinopathy
Genetic otorhinolaryngologic disease
Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits
Char syndrome is characterized by the triad of patent ductus arteriosus (PDA), facial dysmorphism and hand anomalies.
Char syndrome
EDDM6
HE6
TM7LN2
epididymal protein 6
adhesion G protein-coupled receptor G2
MEKK7
TGF-beta activated kinase 1
mitogen-activated protein kinase kinase kinase 7
KIAA1933
protein arginine methyltransferase 7
lysyl oxidase
FHF1
fibroblast growth factor 12B
fibroblast growth factor FGF-12b
fibroblast growth factor homologous factor 1
myocyte-activating factor
fibroblast growth factor 12
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_2637 with label: Microcephalic osteodysplastic primordial dwarfism type II
Primordial short stature-microdontia-opalescent and rootless teeth syndrome
Exertional heat stroke
Exercise-induced malignant hyperthermia
Rare disease with malignant hyperthermia
Cyanide poisoning
Scorpion envenomation is a rare intoxication caused by a scorpion sting which typically manifests with localized pain, edema, erythema, and paresthesias at the site of the sting and, when severe, progresses to produce systemic symptoms of variable severity that include respiratory difficulties, abnormal systemic blood pressure, cardiac arrhythmia, and a combination of parasympathetic (i.e. excessive salivation and lacrimation, diaphoresis, miosis, frequent urination, diarrhea, vomiting, priapism) and sympathetic (e.g. hyperthermia, hyperglycemia, mydriasis) manifestations. Neurological manifestations may also be associated, such as abnormal eye movements, blurred vision, agitation and restlessness, as well as muscle fasciculations and spasms. Signs and symptoms are highly variable and in most severe cases may lead to cardiogenic shock and pulmonary edema.
Scorpion envenomation
Euthyroid Graves ophthalmopathy
Euthyroid Graves orbitopathy
Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome
Supratip dysplasia is a rare, congenital, non-syndromic, nose and cavum malformation characterized by the presence of a bulbous, soft tissue hypertrophy located in the middle-to-distal third of the nasal dorsum, in association with deformed, slightly laterally- and caudally-placed nasal alae and a scar-like atrophic skin lesion located at the nasal tip. Respiratory function is not affected.
Supratip dysplasia
CDG syndrome type IIp
CDG-IIp
CDG2P
Carbohydrate deficient glycoprotein syndrome type IIp
Congenital disorder of glycosylation type 2p
Congenital disorder of glycosylation type IIp
TMEM199-CDG
MCRPE
Martinique crinkled retinal pigment epitheliopathy
SPG77
Autosomal recessive spastic paraplegia type 77 is a rare, pure or complex hereditary spastic paraplegia characterized by an infancy to childhood onset of slowly progressive lower limb spasticity, delayed motor milestones, gait disturbances, hyperreflexia and various muscle abnormalities, including weakness, hypotonia, intention tremor and amyotrophy. Ocular abnormalities (e.g. strabismus, ptosis) and other neurological abnormalities, such as dysarthria, seizures and extensor plantar responses, may also be associated.
Autosomal recessive spastic paraplegia type 77
Familial patent arterial duct is a rare, genetic, non-syndromic, congenital anomaly of the great arteries characterized by the presence of an isolated patent arterial duct (PDA) (i.e. failure of closure of ductus arteriosis after birth) in several members of the same family. Clinical presentation is similar to the sporadic form and may range from neonatal-onset tachypnea, diaphoresis and failure to thrive to adult-onset atrial arrhythmia, signs and symptoms of heart failure and cyanosis limited to the lower extremities.
Familial patent arterial duct
use http://www.orpha.net/ORDO/Orphanet_79328 with label: ALG9-CDG
OBSOLETE: Lethal brachymelia-polycystic kidney disease-congenital heart defect syndrome
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation
CMT2Z
Autosomal dominant Charcot-Marie-Tooth disease type 2Z
ARCMT2X
Autosomal recessive Charcot-Marie-Tooth disease type 2 due to SPG11 mutation
CMT2X
Autosomal recessive Charcot-Marie-Tooth disease type 2X
COXPD28
Combined oxidative phosphorylation defect type 28
Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect
Macrocephaly-intellectual disability-left ventricular non compaction syndrome is a rare, genetic, syndromic intellectual disability characterized by motor and cognitive developmental delay with language impairment, macrocephaly, hypotonia, dysmorphic facial features (including long face, slanting palpebral fissures and prominent, flattened nose) and left ventricular noncompaction cardiomyopathy. Patients also present skeletal abnormalities (e.g. scoliosis, finger clinodactyly, pes planus), slender build and shy behavior. Strabismus and various neurological signs (including ataxia, tremor and hyperreflexia) may be associated, as well as epilepsy, autism and MRI findings showing a small cerebellum and abnormalities of the corpus callosum. A phenotypic variant with no cardiac involvement has been reported.
Macrocephaly-intellectual disability-left ventricular non compaction syndrome
Autosomal recessive spinocerebellar ataxia type 21
SCAR21
Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
LGMD2W
Autosomal recessive limb-girdle muscular dystrophy type 2W is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by childhood onset of severe, progressive, proximal skeletal muscle weakness and atrophy of the upper and lower limbs with later involvement of distal muscles and development of severe quadraparesis, calf hypertrophy, triangular tongue, and dilated cardiomyopathy. Skeletal muscles undergo diffuse, bilateral, symmetric and severe atrophy with fat infiltration.
Autosomal recessive limb-girdle muscular dystrophy type 2W
Autosomal dominant thrombocytopenia with platelet secretion defect
Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome
SSM syndrome
Seizures-scoliosis-macrocephaly syndrome is a rare, genetic neurometabolic disorder characterized by seizures, macrocephaly, delayed motor milestones, moderate intellectual disability, scoliosis with no exostoses, muscular hypotonia present since birth, as well as renal dysfunction. Coarse facial features (including hypertelorism and long hypoplastic philtrum) and bilateral cryptorchidism (in males) are also commonly reported. Additional manifestations include abnormal gastrointestinal motility (resulting in constipation, diarrhea, gastroesophageal reflux and dysphagia), gait disturbances, strabismus and ventricular septal defects.
Seizures-scoliosis-macrocephaly syndrome
VPS11-related autosomal recessive hypomyelinating leukoencephalopathy
VPS11-related autosomal recessive hypomyelinating leukodystrophy
WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome
Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation
SMARCA4-deficient thoracic sarcoma
SMARCA4-deficient sarcoma of thorax
Congenital combined pituitary hormone deficiency
Congenital hypopituitarism
Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis.
Non-acquired combined pituitary hormone deficiency
Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome
Tubulinopathy-associated dysgyria
Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome is a rare, genetic, non-dystrophic congenital myopathy disorder characterized by a neonatal-onset of severe generalized hypotonia associated with mild psychomotor delay, congenital strabismus with abducens nerve palsy, and atrial and/or ventricular septal defects. Cryptorchidism is commonly reported in male patients and muscle biopsy typically reveals increased variability in muscle fiber size.
Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome
ATP6A
H(+)-K(+)-ATPase alpha subunit
gastric H,K-ATPase alpha subunit
proton pump
ATPase H+/K+ transporting subunit alpha
Intracranial arteriovenous malformation
Cerebral arteriovenous malformation (AVM) is a congenital malformative communication between the veins and the arteries in the brain in the form of a nidus, an anatomical structure composed of dilated and tangled supplying arterioles and drainage veins with no intervening capillary bed, that can be asymptomatic or cause, depending on the location and the size of the AVM, headaches of varying severity, generalized or focal seizures, focalneurological defects (weakness, numbness, speech difficulties, vision loss) or potentially fatal intracranial hemorrhage in case the AVM ruptures.
Cerebral arteriovenous malformation
RASI-1
matrix metallopeptidase 19
PEZ
protein tyrosine phosphatase, non-receptor type 14
Intellectual disability-epilepsy-extrapyramidal syndrome
Microcephalic primordial dwarfism due to RTTN deficiency is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by primary microcephaly, profound short stature, moderate to severe intellectual disability, global developmental delay, craniofacial dysmorphism (e.g. sloping forehead, high and broad nasal bridge) and variable brain malformations, including simplified gyration, pachygyria, polymicrogyria, reduced sulcation, dysgenesis of corpus callosum and deformed ventricles. Renal anomalies, bilateral hearing loss, multiple joint contractures, severe failure to thrive and a sacral lesion cephalad to the gluteal crease have also been reported.
Microcephalic primordial dwarfism due to RTTN deficiency
CMUSE
Cryptogenic multifocal ulcerous stenosing enteritis
CEAS
Chronic enteropathy associated with SLCO2A1 gene
SPG74
Autosomal recessive spastic paraplegia type 74 is a rare, genetic, spastic paraplegia-optic atrophy-neuropathy-related (SPOAN-like) disorder characterized by childhood onset of mild to moderate spastic paraparesis which manifests with gait impairment that very slowly progresses into late adulthood, hyperactive patellar reflex and bilateral extensor plantar response, in association with optic atrophy and typical symptoms of peripheral neuropathy, including reduced or absent ankle reflexes, lower limb atrophy and distal sensory impairment. Reduced visual acuity and pes cavus are frequently reported.
Autosomal recessive spastic paraplegia type 74
Isolated generalized anhidrosis with normal sweat glands
MACOM syndrome
Colobomatous macrophthalmia-microcornea syndrome
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome is a rare, genetic, syndromic intellecutal disability disorder characterized by craniofacial dysmorphism (microcephaly, hypotonic facies, strabismus, long and flat malar region, posteriorly rotated ears, flat nasal bridge with broad nasal tip, short philtrum, thin vermillion border, open mouth with down-turned corners, high arched palate, pointed chin), global developmental delay, intellectual disability and variable neurobehavioral abnormalities (autism spectrum disorder, aggressivness, self injury). Additional features include vision abnormalities and variable sensorineural hearing loss, as well as short stature, hypotonia and gastrointestinal manifestations (e.g. poor feeding, gastroesophageal reflux, constipation).
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
CDG syndrome type IIo
CDG-IIo
CDG2O
Carbohydrate deficient glycoprotein syndrome type IIo
Congenital disorder of glycosylation type 2o
Congenital disorder of glycosylation type IIo
CCDC115-CDG
CDG syndrome type IIn
CDG-IIn
CDG2N
Carbohydrate deficient glycoprotein syndrome type IIn
Congenital disorder of glycosylation type 2n
Congenital disorder of glycosylation type IIn
SLC39A8 deficiency
SLC39A8-CDG
Rhizomelic chondrodysplasia punctata type 5
Severe primary trimethylaminuria
KIAA0316
FERM and PDZ domain containing 4
E3 ubiquitin-protein ligase RLIM
LIM domain interacting ring finger protein
NY-REN-43
ring zinc finger protein NY-REN-43antigen
ring finger protein, LIM domain interacting
USP27
ubiquitin specific peptidase 27 X-linked
Hereditary fructose-1-phosphate aldolase deficiency
Hereditary fructosemia
Hereditary fructose intolerance (HFI) is an autosomal recessive disorder of fructose metabolism (see this term), resulting from a deficiency of hepatic fructose-1-phosphate aldolase activity and leading to gastrointestinal disorders and postprandial hypoglycemia following fructose ingestion. HFI is a benign condition when treated, but it is life-threatening and potentially fatal if left untreated.
Hereditary fructose intolerance
UBA5, ubiquitin-activating enzyme E1 homolog (yeast)
ubiquitin like modifier activating enzyme 5
EB11
GluN2D
N-methyl-d-aspartate receptor subunit 2D
NR2D
glutamate ionotropic receptor NMDA type subunit 2D
I-kappa-B kinase
IKK-alpha
IKK1
IKKA
IkBKA
NFKBIKA
inhibitor of nuclear factor kappa-B kinase subunit alpha
conserved helix-loop-helix ubiquitous kinase
CFAP67
NM23-H7
cilia and flagella associated protein 67
NME/NM23 family member 7
adenylosuccinate synthase like 1
KIAA1977
ankyrin repeat and sterile alpha motif domain containing 3
ADTD
adaptor related protein complex 3 subunit delta 1
BAF200
KIAA1557
AT-rich interaction domain 2
ATPase family, AAA domain containing 3A
PPP1R49
protein phosphatase 1, regulatory subunit 49
axin 1
KIAA1241
KIAA1689
TFC5
TFIIIB150
B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB
BTK-deficiency
Bruton type agammaglobulinemia
X-linked agammaglobulinemia (XLA) is a clinically variable form of isolated agammaglobulinemia, an inherited immunodeficiency disorder (see this term), and is characterized in affected males by recurrent bacterial infections during infancy.
X-linked agammaglobulinemia
Hyperdibasic aminoaciduria type 2
LPI
Lysinuric protein intolerance (LPI) is a very rare inherited multisystem condition caused by distrubance in amino acid metabolism.
Lysinuric protein intolerance
HBVES
POP1
POPDC1
popeye domain containing 1
blood vessel epicardial substance
HSPC138
HSPC179
OPI10
Hikeshi, heat shock protein nuclear import factor
MIC13
QIL1
chromosome 19 open reading frame 70
LRRC76
YF5
leucine rich repeat containing 76
nuclear encoded mitochondrial protein
chromosome 21 open reading frame 2
cysteine tRNA ligase 2, mitochondrial (putative)
cysteinyl-tRNA synthetase 2, mitochondrial
ccp1
coiled-coil domain containing 115
coiled-coil domain containing 174
CDC42Hs
G25K
GTP binding protein, 25kDa
cell division cycle 42
LSFR1
ZNF356
CDKN1A interacting zinc finger protein 1
KIAA0384
p120cas
p120ctn
catenin delta 1
CDP2
KIAA0293
cut like homeobox 2
DAP6
death domain associated protein
ABS
MGC8828
DEAD-box helicase 41
CFAP81
DLC1
cilia and flagella associated protein 81
DLEC1, cilia and flagella associated protein
DLGH1
SAP-97
SAP97
discs large homolog 1
hdlg
presynaptic protein SAP97
synapse-associated protein 97
discs large MAGUK scaffold protein 1
distal-less homeobox 6
testis-specific protein
doublesex and mab-3 related transcription factor 3
EIF2
EIF2gamma
eukaryotic translation initiation factor 2G
eukaryotic translation initiation factor 2 subunit gamma
ER membrane protein complex subunit 1
gp115
elastin microfibril interfacer 1
erythropoietin
PP591
flavin adenine dinucleotide synthetase 1
GABABR2
GPRC3B
HG20
gamma-aminobutyric acid type B receptor subunit 2
GABA(A) receptor, beta 2
gamma-aminobutyric acid type A receptor beta2 subunit
KIAA0186
GINS complex subunit 1
ALT2
alanine aminotransferase 2
glutamic--pyruvic transaminase 2
C18orf6
GREB1 like retinoic acid receptor coactivator
HPRCC
Hereditary papillary renal cell carcinoma (HPRCC) is a familial renal cancer syndrome characterised by a predisposition for developing bilateral and multifocal type 1 papillary renal carcinomas.
Hereditary papillary renal cell carcinoma
Familial cold autoinflammatory syndrome
Familial cold urticaria (FCAS) is the mildest form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent episodes of urticaria-like skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia.
Familial cold urticaria
HIV-EP2
MBP-2
MIBP1
Schnurri-2
ZAS2
ZNF40B
c-myc intron binding protein 1
human immunodeficiency virus type I enhancer binding protein 2
SAF-A
scaffold attachment factor A
heterogeneous nuclear ribonucleoprotein U
interferon alpha and beta receptor subunit 2
CGI-53
NGD2
NGD5
intraflagellar transport 52
HIPPI
MHS4R2
intraflagellar transport 57
Kv7.5
potassium voltage-gated channel subfamily Q member 5
CT31
PLU-1
PPP1R98
RBBP2H1A
cancer/testis antigen 31
protein phosphatase 1, regulatory subunit 98
lysine demethylase 5B
PINCH-2
PINCH2
particularly interesting new Cys-His protein 2
LIM zinc finger domain containing 2
IDAS
MCI
multicilin
multiciliate differentiation and DNA synthesis associated cell cycle protein
malate dehydrogenase 2
GL004
mitochondrial fission factor
MIP
mitochondrial intermediate peptidase
HSPC165
HSPC236
MOG1
MOG1 homolog (S. cerevisiae)
RANGNRF
RAN guanine nucleotide release factor
KIAA0852
ZCW3
MORC family CW-type zinc finger 2
DESP4
ERG25
methylsterol monooxygenase 1
moesin
KIAA1915
Myb like, SWIRM and MPN domains 1
PDSW
complex I PDSW subunit
NADH:ubiquinone oxidoreductase subunit B10
ASHI
CI-ASHI
complex I ASHI subunit
NADH:ubiquinone oxidoreductase subunit B8
LASP2
LIM and SH3 protein 2
LIM-nebulette
LNEBL
nebulette
KIAA0439
NEDD4-2
RSP5
neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase
NTN1L
Netrin-1
netrin 1
KIAA0461
ZNF280E
ZNF635m
putative protein product of Nbla00003
zinc finger protein 280E
pogo transposable element derived with ZNF domain
FBP interacting repressor
FIR
Ro ribonucleoprotein binding protein 1
RoBPI
SIAHBP1
pyrimidine tract binding splicing factor
siah binding protein 1
poly(U) binding splicing factor 60
Rac-1
TC-25
p21-Rac1
Rac family small GTPase 1
NR1F3
RORG
RZRG
TOR
RAR related orphan receptor C
60S ribosomal protein L27
L27
ribosomal protein L27
MPS-1
S27
metallopanstimulin 1
ribosomal protein S27
Oncogene RRAS
R-Ras
RAS related
NIMP
reticulon 4 interacting protein 1
Nav1.3
sodium voltage-gated channel alpha subunit 3
GKLP
HT019
NKTL
TAPK
TEIF
telomerase regulation-associated protein
telomerase transcriptional elements-interacting factor
teratoma-associated tyrosine kinase
SCY1 like pseudokinase 1
KIAA0700
SIN3 transcription regulator family member A
VACHT
solute carrier family 18 member A3
EAAT2
GLT-1
solute carrier family 1 member 2
MFTC
solute carrier family 25 member 32
ACSB
ACSVL6
FACVL3
FATP5
VLACSR
VLCS-H2
VLCSH2
fatty-acid-Coenzyme A ligase, very long-chain 3
solute carrier family 27 member 5
schlafen family member 14
BASS1
Bax antagonist selected in Saccharomyces 1
DBP-5
KIAA1019
NRE-binding protein
NREBP
negative regulatory element-binding protein
SON DNA binding protein
SA-1
SA1
SCC3A
stromal antigen 1
KIAA0733
TGF-beta activated kinase 1 (MAP3K7) binding protein 2
tubulin folding cofactor D
T-box, brain 1
CD71
TFR1
p90
transferrin receptor
translocase of inner mitochondrial membrane domain containing 1
transmembrane protein 107
VMA12
VPH2
transmembrane protein 199
TDO
TPH2
tryptophan 2,3-dioxygenase
ARHGEF23
trio Rho guanine nucleotide exchange factor
ZC2HC5
zinc finger, C2HC5-type
thyroid hormone receptor interactor 4
ubiquitin fold modifier 1
ubiquitin specific peptidase 7
BM-016
PRO1741
Wwp4
WW domain containing adaptor with coiled-coil
TrpRS
tryptophan tRNA ligase 2, mitochondrial
tryptophanyl tRNA synthetase 2, mitochondrial
CaM-IP4
WD repeat domain 66
CRM1
chromosome region maintenance 1 homolog (yeast)
emb
exportin 1
DELTA
INO80 complex subunit S
INO80S
UCRBP
YIN-YANG-1
Yin and Yang 1 protein
YY1 transcription factor
ZFH4
zinc finger homeobox 4
Genetic lethal multiple congenital anomalies/dysmorphic syndrome
Renal tubular acidosis type 2
pRTA
Proximal renal tubular acidosis (pRTA) is a tubular kidney disease characterized by impaired ability of the proximal tubule to reabsorb bicarbonate from the glomerular filtrate leading to hyperchloremic metabolic acidosis.
Proximal renal tubular acidosis
Cystoisosporiasis
(through ingestion of contaminated food), that is frequently asymptomatic or that can cause fever and diarrhea, but that is usually a self-limiting condition in the immunocompetent. HIV-positive individuals are particularly at risk of suffering from symptomatic isosporiasis and can manifest with a more severe clinical course of chronic diarrhea and severe weight loss.
Isosporiasis
Asphyxiating thoracic dystrophy of the newborn
JATD
Jeune asphyxiating thoracic dystrophy
Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including "trident" aspect of the acetabula and metaphyseal changes.
Jeune syndrome
Congenital anomaly of interventricular communication
Congenital ventricular septal anomaly
Rare congenital anomaly of ventricular septum
CGI-60
D2LIC
LIC3
dynein cytoplasmic 2 light intermediate chain 1
ER beta
ER-beta
Erb
NR3A2
estrogen receptor beta
nuclear receptor subfamily 3 group A member 2
oestrogen receptor beta
estrogen receptor 2
Gp200
PCLP
podocalyxin like
OGR1
G protein-coupled receptor 68
FHR-4
FHR4
complement factor H related 4
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.
Joubert syndrome
polycystin-1L1
polycystin 1 like 1, transient receptor potential channel interacting
Autosomal recessive limb-girdle muscular dystrophy-cardiac arrhythmia syndrome
LGMD2X
Autosomal recessive limb-girdle muscular dystrophy type 2X is a rare subtype of autosomal recessive limb-girdle muscular dystrophy characterized by atrioventricular block resulting in repeated syncope episodes, elevated creatine kinase serum levels and adult-onset of slowly progressive proximal limb skeletal muscle weakness and atrophy. Muscular dystrophic changes observed in muscle biopsy include diameter variability, increased central nuclei, and presence of necrotic and regenerating fibers.
Autosomal recessive limb-girdle muscular dystrophy type 2X
Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome
EKC syndrome
Erythrokeratodermia-cardiomyopathy syndrome is a rare, genetic erythrokeratoderma disorder characterized by generalized cutaneous erythema with fine white scales and pruritus refractory to treatment, progressive dilated cardiomyopathy, palmoplantar keratoderma, sparse or absent eyebrows and eyelashes, sparse scalp hair, nail dystrophy, and dental enamel anomalies. Variable features include failure to thrive, developmental delay, and development of corneal opacities. Histology shows psoriasiform acanthosis, hypogranulosis, and compact orthohyperkeratosis.
Erythrokeratodermia-cardiomyopathy syndrome
Behçet-like disease due to HA20
Behçet-like disease due to haploinsufficiency of A20
Hereditary pediatric Behçet-like disease
Axonal HMSN
Axonal hereditary motor and sensory neuropathy
CID due to TFRC deficiency
TFRC-related combined immunodeficiency
Combined immunodeficiency due to TFRC deficiency
Demyelinating HMSN
Demyelinating hereditary motor and sensory neuropathy
Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome
Splenomegaly-neutropenia-rheumatoid arthritis syndrome
Felty syndrome (FS), also known as ''super rheumatoid'' disease, is a severe form of rheumatoid arthritis (RA), characterized by a triad of RA, splenomegaly and neutropenia, resulting in susceptibility to bacterial infections.
Felty syndrome
Intermediate hereditary motor and sensory neuropathy
Intermediate Charcot-Marie-Tooth disease
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
MNR
OFD1 and FOPNL interacting protein
OFIP
moonraker
KIAA0753
BB1
LPIAT
LPLAT
hMBOA-7
lysophosphatidylinositol acyltransferase
lysophospholipid acyltransferase 7
membrane bound O-acyltransferase domain containing 7
P2X7
purinergic receptor P2X 7
NYSAR97
sarcoma antigen NY-SAR-97
PIH1 domain containing 3
Hypercontractile muscle stiffness syndrome
Congenital generalized hypercontractile muscle stiffness syndrome
cysteine rich transmembrane BMP regulator 1
CYSLT2R
CysLT(2)
cysteinyl leukotriene receptor 2
double homeobox 4
PEP5
RNF108
VPS11, CORVET/HOPS core subunit
cPLA2-alpha
phospholipase A2 group IVA
solute carrier family 25 member 26
BIGM103
solute carrier family 39 member 8
Ichthyosis hystrix Rheydt type
KID/HID syndrome
Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome
Senter syndrome
Keratitis (and hystrix-like) ichthyosis deafness (KID/HID) syndrome is a rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss.
KID syndrome
MGC8385
polyubiquitin B
ubiquitin B
KIAA1294
FERM domain containing 4A
3PK
3pK
MAPKAP3
mitogen-activated protein kinase-activated protein kinase 3
CFAP48
IP3R2
cilia and flagella associated protein 48
inositol 1,4,5-trisphosphate receptor type 2
potassium channel tetramerization domain containing 17
CLLD7
CLLL7
RCC1 and BTB domain containing protein 1
G protein subunit alpha 14
FANCV
MAD2B
POLZ2
REV7
mitotic arrest deficient homolog-like 2
polymerase (DNA-directed), zeta 2, accessory subunit
mitotic arrest deficient 2 like 2
PDI3
peptidyl arginine deiminase 3
E polypeptide, protein-glutamine-gamma-glutamyltransferase
TGE
transglutaminase 3
ALC1
AMLC
GT1
PRO1957
myosin, atrial/fetal muscle, light chain
myosin light chain 4
Type 1 interferonopathy
Fibroblastic rheumatism
IL21-related infantile IBD
IL21-related infantile inflammatory bowel disease
use http://www.orpha.net/ORDO/Orphanet_1272 with label: Aymé-Gripp syndrome
Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome
COXPD26
Combined oxidative phosphorylation defect type 26
use http://www.orpha.net/ORDO/Orphanet_71290 with label: Hereditary thrombocytopenia with normal platelets-hematological cancer predisposition syndrome
OBSOLETE: Hereditary thrombocytopenia-hematological cancer predisposition syndrome
Pediatric multiple sclerosis (MS) is a rare multiple sclerosis variant characterized by the onset of multiple sclerosis (i.e. one or multiple episodes of clinical CNS symptoms consistent with acquired CNS demyelination, with radiologically proven dissemination of inflammatory lesions in space and time, following exclusion of other disorders) before the age of 18 years old. Pediatric MS patients present a predominantly relapsing-remitting course with first attack usually consisting of optic neuritis, transverse myelitis, acute disseminated encephalomyelitis and monofocal or polyfocal neurological deficits. A high burden of T2-hyperintense lesions on intial MRI, primarily of the supratentorial region and/or of the cervical spinal cord, has been reported.
Pediatric multiple sclerosis
Pseudosarcomatous fasciitis
Pseudosarcomatous fibromatosis
Nodular fasciitis
PADMAL
Pontine autosomal dominant microangiopathy with leukoencephalopathy
Genetic cerebral small vessel disease
COL4A1 or COL4A2-related cerebral angiopathy
COL4A1 or COL4A2-related cerebral small vessel disease
COL4A1 or COL4A2-related cerebral angiopathy with ischemic tendancy
COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendancy
COL4A1 or COL4A2-related cerebral angiopathy with hemorrhagic tendancy
COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy
Moyomoya angiopathy
Rare disorder with a moyamoya angiopathy
COXPD27
Combined oxidative phosphorylation defect type 27
Type 1 condylar hyperplasia
Primary condylar hyperplasia
PLA2G4A-related platelet dysfunction
Platelet dysfunction due to cytosolic phospholipase-A2 alpha deficiency
Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder
Syndromic constitutional thrombocytopenia
Cconstitutional thrombocytopenia without extra-hematopoietic manifestation
Non-syndromic constitutional thrombocytopenia
Isolated constitutional thrombocytopenia
Genetic cardiac malformation
Other genetic dermis disorder
Rare hypercholesterolemia
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome is a rare, genetic, neuro-ophthalmological syndrome characterized by post-natal, progressive microcephaly and early-onset seizures, associated with delayed global development, bilateral cortical visual impairment and moderate to severe intellectual disability. Additional manifestations include short stature, generalized hypotonia and pulmonary complications, such as recurrent respiratory infections and bronchiectasis. Auditory and metabolic screenings are normal.
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
17p11.2p12 microduplication syndrome
Trisomy 17p11.2-p12
Trisomy 17p11.2p12
Yuan-Harel-Lupski syndrome
PMP22-RAI1 contiguous gene duplication syndrome
Kosaki overgrowth syndrome
Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
Autosomal recessive MSMD due to complete RORgamma receptor defiency
Autosomal recessive primary immunodeficiency due to RORC mutation
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
Palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome
Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, axial hypotonia, palate abnormalities (including cleft palate and/or high and narrow palate), dysmorphic facial features (including prominent forehead, hypertelorism, downslanting palpebral fissures, wide nasal bridge, thin lips and widely spaced teeth), and short stature. Additional manifestations may include digital anomalies (such as brachydactyly, clinodactyly, and hypoplastic toenails), a single palmar crease, lower limb hypertonia, joint hypermobility, as well as ocular and urogenital anomalies.
Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
Kallmann syndrome (KS) is a developmental genetic disorder characterized by the association of congenital hypogonadotropic hypogonadism (CHH) due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs).
Kallmann syndrome
COXPD29
Combined oxidative phosphorylation defect type 29
COXPD30
Combined oxidative phosphorylation defect type 30
Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome is rare, genetic, neurometabolic disease characterized by global developmental delay, severe hypotonia, seizures, cataracts, cardiomyopathy (including left or bi-ventricular hypertrophy, dilated cardiomyopathy) and left ventricular non-compaction, typically resulting in infantile or early-childhood death. Patients usually present metabolic lactic acidosis, failure to thrive, head lag, respiratory problems and decrease in respiratory chain complex activity. Highly variable cerebral abnormalities have been reported and include microcephaly, prominent extra-axial cerebrospinal fluid spaces, diffuse neuronal loss and cortical/white matter gliosis.
Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
GPSN2L
SRD5A2L2
TERL
glycoprotein, synaptic 2-like
trans-2,3-enoyl-CoA reductase like
BHC110
KIAA0601
LSD1
Lysine-specific histone demethylase 1A
lysine demethylase 1A
HSAN8
Hereditary sensory and autonomic neuropathy type VIII
Hereditary sensory and autonomic neuropathy type 8
RING-H2 protein RNF-6
ring finger protein 6
GGF2
HGF2
gingival fibromatosis, hereditary, 2
transport and golgi organization 2 homolog
SKD1B
VPS4-2
vacuolar protein sorting 4 homolog B
myosin IXA
FISH
KIAA0418
five SH3 domains
SH3 and PX domains 2A
Congenital bilateral agenesis of vas deferens
Congenital bilateral aplasia of vas deferens
Congenital bilateral absence of the vas deferens (CBAVD) is a condition leading to male infertility.
Congenital bilateral absence of vas deferens
Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block.
Kearns-Sayre syndrome
NR1H4 deficiency
PFIC5
Progressive familial intrahepatic cholestasis type 5
PFIC4
TJP2 deficit
Progressive familial intrahepatic cholestasis type 4
MYO5B deficiency
MYO5B-related progressive familial intrahepatic cholestasis
Congenital cystic dilatation of the biliary tract
Choledochal cyst
PIHL
Primary hepatolithiasis
Primary intrahepatic lithiasis
IAD
Idiopathic adult ductopenia
Idiopathic ductopenia
Caroli syndrome
Idiopathic peliosis hepatitis
Idiopathic peliosis hepatis
Lethal hydranencephaly-diaphragmatic hernia syndrome is a rare, genetic, lethal, multiple congenital anomalies syndrome characterized by hydranencephaly and diaphragmatic hernia, as well as macrocephaly, a widely open anterior fontanel, scaphoid abdomen and hypotonia. Additionally, congenital heart defects, polyhydramnios and pulmonary hypertension have also been associated.
Lethal hydranencephaly-diaphragmatic hernia syndrome
Congenital portosystemic venous fistula
Congenital portosystemic shunt is a rare, congenital anomaly of the great veins characterized by an abnormal communication between one or more veins of the portal and the caval systems, resulting in complete or partial diversion of the portal blood away from the liver to the systemic circulation. Clinical manifestations include liver atrophy, hypergalactosemia without uridine diphosphate enzyme deficiency, hyperammonemia, encephalopathy (resulting in learning disabilities, extreme fatigability and seizures), pulmonary hypertension, hypoxemia from hepatopulmonary syndrome and benign or malignant tumours.
Congenital portosystemic shunt
MSH3-related AFAP
MSH3-related attenuated FAP
MSH3-related attenuated familial polyposis coli
MSH3-related attenuated familial adenomatous polyposis
High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement
Non-SCID
Non-severe combined immunodeficiency
Aneurysmal bone cyst
Isolated neonatal sclerosing cholangitis is a rare, genetic, biliary tract disease characterized by severe neonatal-onset cholangiopathy with patent bile ducts and absence of ichthyosiform skin lesions. Patients present with jaundice, acholic stools, hepatosplenomegaly and high serum gamma-glutamyltransferase activity. Liver histology shows portal fibrosis, ductular proliferation, hepatocellular metallothionein deposits, and intralobular bile-pigment accumulations. Some patients may also have renal disease.
Isolated neonatal sclerosing cholangitis
LGMD2Z
Autosomal recessive limb-girdle muscular dystrophy type 2Z
Facial diplegia with paresthesias variant of GBS
Facial diplegia with paresthesias variant of Guillain-Barré syndrome
Facial diplegia with paresthesias
use http://www.orpha.net/ORDO/Orphanet_2492 with label: FATCO syndrome
OBSOLETE: Fibular aplasia-tibial campomelia-oligosyndactyly syndrome
Hereditary thrombocytopenia with early-onset myelofibrosis
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome is a rare, genetic, neurodegenerative disease characterized by episodic metabolic encephalomyopathic crises (of variable frequency and severity which are frequently precipitated by an acute illness) which manifest with profound muscle weakness, ataxia, seizures, cardiac arrhythmias, rhabdomyolysis with myoglobinuria, elevated plasma creatine kinase, hypoglycemia, lactic acidosis, increased acylcarnitines and a disorientated or comatose state. Global developmental delay, intellectual disability and cortical, pyramidal and cerebellar signs develop with subsequent progressive neurodegeneration causing loss of expressive language and varying degrees of cerebral atrophy.
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females
X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability
Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome is a rare, genetic, neurological disorder characterized by mild to severe developmental delay and speech impairment, truncal hypotonia, abnormalities of vision (including cortical visual impairment and abnormal visual-evoked potentials), progressive brain atrophy mainly affecting the cerebellum, and shortened or atrophic corpus callosum. Other clinical findings may include increased muscle tone in the extremities, dystonic posturing, hyporeflexia, scoliosis, postnatal microcephaly and variable facial dysmorphism (e.g. deep-set eyes, gingival hyperplasia, short philtrum and retrognathia).
Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome
X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome
SBMA
X-linked BSMA
X-linked bulbospinal amyotrophy
X-linked bulbospinal muscular atrophy
X-linked spinal and bulbar muscular atrophy
Kennedy's disease, also known as bulbospinal muscular atrophy (BSMA), is a rare X-linked recessive motor neuron disease characterized by proximal and bulbar muscle wasting.
Pyoderma gangrenosum (PG) is a primarily sterile inflammatory neutrophilic dermatosis characterized by recurrent cutaneous ulcerations with a mucopurulent or hemorrhagic exudate.
Pyoderma gangrenosum
PYCR2-related microcephaly-progressive leukoencephalopathy is a rare, genetic, syndromic intellectual disability disorder characterized by progressive postnatal microcephaly, cerebral hypomyelination and severe psychomotor developmental delayed with absent speech, as well as axial hypotonia, appendicular hypertonia with hyperextensibility of the wrists and ankles, hyperreflexia, severe muscle wasting and failure to thrive. Associated craniofacial dysmorphism includes triangular facies with bitemporal narrowing, down- or upslanting palpebral fissures, malar hypoplasia, large malformed ears with overfolded helices, upturned bulbous nose, long smooth philtrum and thin vermilion borders.
PYCR2-related microcephaly-progressive leukoencephalopathy
use http://www.orpha.net/ORDO/Orphanet_100075 with label: Neuroendocrine tumor of stomach
OBSOLETE: Gastric neuroendocrine tumor type 1
OBSOLETE: Gastric neuroendocrine tumor type 2
OBSOLETE: Gastric neuroendocrine tumor type 3
OBSOLETE: Gastric neuroendocrine tumor type 4
Gastroenteric neuroendocrine neoplasm
MADSAM
Multifocal acquired demyelinating sensory and motor neuropathy
Lewis-Sumner syndrome (LSS) is a rare acquired demyelinating polyneuropathy characterized by asymmetrical distal weakness of the upper or lower extremities and motor dysfunction with adult onset. It is considered to be a variant of chronic inflammatory demyelinating polyneuropathy.
Lewis-Sumner syndrome
Familial Chilblain lupus
USP18 deficiency
Type 1 interferonopathy of childhood
Genetic alopecia
Familial schizencephaly
Eosinophilic lymphogranuloma
Kimura disease is a benign and chronic inflammatory disorder of unknown etiology, occurring mainly in Asian countries (very rarely in Western countries) and predominantly affecting young men, that usually presents with solitary or multiple non-tender subcutaneous masses in the head and neck region (in particular the preauricular and submandibular area) and/or generalized painless lymphadenopathy, often with salivary gland involvement. Characteristic laboratory findings include blood eosinophilia and markedly elevated serum immunoglobulin E (IgE) levels. It is often associated with autoinflammatory disorders (i.e. ulcerative colitis, bronchial asthma) and a co-existing renal disease.
Kimura disease
HTRA1-related cerebral angiopathy
HTRA1-related cerebral small vessel disease
HTRA1-related autosomal dominant cerebral angiopathy
HTRA1-related autosomal dominant cerebral small vessel disease
Rare idiopathic macular telangiectasia
ADSSL1-related distal myopathy
Adenylosuccinate synthetase-like 1-related distal myopathy
X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome
Congenital high-molecular-weight kininogen deficiency
Non-cirrhotic nodulation
Nodular regenerative hyperplasia of the liver is a rare parenchymatous liver disease characterized by diffuse benign transformation of the hepatic parenchyma into multiple small nodules (composed of regenerating hepatocytes) and that is usually asymptomatic but can lead to the development of non-cirrhotic portal hypertension and its complications, including esophageal variceal bleeding, hypersplenism and ascites. It is often associated with rheumatologic, autoimmune, hematologic, and myeloproliferative disorders as well as various immune deficiency states and exposure certain drugs and toxins.
Nodular regenerative hyperplasia of the liver
Pustulosis subcornealis
Sneddon-Wilkinson disease
Subcorneal pustular dermatitis
Subcorneal pustular dermatosis is a rare, benign, chronic disease characterized by sterile pustular eruption, typically involving the flexural sites of the trunk and proximal extremities.
Subcorneal pustular dermatosis
kelch domain containing 8B
TRM5
tRNA (guanine(37)-N1)-methyltransferase
tRNA methyltransferase 5
MT-TRX
thioredoxin 2
TBC1D3 and USP32 fusion
TRE17
Tre-2
Tre-2 oncogene
Tre2
ubiquitin carboxyl-terminal hydrolase 6
ubiquitin specific peptidase 6
ASV
c-src
SRC proto-oncogene, non-receptor tyrosine kinase
MRPP1
mitochondrial RNase P subunit 1
tRNA methyltransferase 10C, mitochondrial RNase P subunit
Ubl carboxyl-terminal hydrolase 18
ubiquitin specific peptidase 18
CD32C
Fc gamma receptor IIc
hFcRII-C
Fc fragment of IgG receptor IIc (gene/pseudogene)
CD262
DR5
KILLER
TRAIL-R2
TRAILR2
TRICK2A
TRICKB
TNF receptor superfamily member 10b
8-hydroxyguanine DNA glycosylase
HMMH
HOGG1
MUTM
OGG1 type 1d
OGG1 type 1e
OGG1 type 1g
OGG1 type 1h
OGH1
8-oxoguanine DNA glycosylase
RCC4
disrupted in renal cancer protein 2
renal cell carcinoma 4
disrupted in renal carcinoma 2
FBX1
FBXO1
cyclin F
MLK7
MLTK
MLTKalpha
MLTKbeta
ZAK
ZAK1 homolog, leucine zipper and sterile-alpha motif kinase (Dictyostelium)
mixed lineage kinase 7
mitogen-activated protein kinase kinase kinase 20
CCFDN
Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) syndrome is a complex developmental disorder of autosomal recessive inheritance.
Congenital cataracts-facial dysmorphism-neuropathy syndrome
MIPP
multiple inositol-polyphosphate phosphatase 1
Vasculitis, characterized by inflammatory lesions in the wall of vessels, may be due to different viruses.
Postinfectious vasculitis
PRLTS
platelet derived growth factor receptor like
TEN-M1
teneurin transmembrane protein 1
GLYT1
solute carrier family 6 member 9
HCCA2
YAP
YY1AP
YY1 associated protein 1
testicular acid phosphatase
acid phosphatase 4
The term lissencephaly covers a group of rare malformations sharing the common feature of anomalies in the appearance of brain convolutions (characterised by simplification or absence of folding) associated with abnormal organisation of the cortical layers as a result of neuronal migration defects during embryogenesis.
Lissencephaly
DP1L1
Yip2f
deleted in polyposis 1-like 1
polyposis locus protein 1-like 1
receptor accessory protein 6
Kniest dysplasia is a severe type II collagenopathy characterized by a short trunk and limbs, prominent joints and midface hypoplasia (round face with a flat nasal root).
Kniest dysplasia
INrf2
KIAA0132
KLHL19
MGC1114
MGC4407
MGC9454
kelch-like family member 19
kelch like ECH associated protein 1
transmembrane protein 106B
Acquired schizencephaly
CLCN4-related X-linked intellectual disability syndrome
PTU embryofetopathy
PTU embryopathy
Propylthiouracil embryopathy
Propylthiouracil embryofetopathy is a rare teratologic disease characterized by variable congenital anomalies resulting from maternal treatment and prenatal exposure to propylthiouracil. Anomalies frequently encountered include ear malformations (e.g. accessory auricle, preauricular sinus/fistula/cyst), urinary system malformations (e.g. isolated unilateral kidney, congenital hydronephrosis), gastrointestinal anomalies (e.g. congenital bands with intestinal malrotation) and cardiac defects (e.g. situs inversus dextrocardia, cardiac outflow tract defects).
Propylthiouracil embryofetopathy
Genetic non-acquired premature ovarian failure
Tetrasomy 16p12.1-p12.3
Tetrasomy 16p12.1p12.3
16p12.1p12.3 triplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 16 characterized by global developmental delay, pre- or post-natal growth delay and distinctive craniofacial features, including short palpebral fissures, epicanthal folds, bulbous nose, thin upper vermillion border, apparently low-set ears and large ear lobes. Variable clinical features that have been reported include congenital heart disease, genitourinary abnormalities, visual anomalies or, less commonly, infantile hepatic disease. Patients are also reported to have tapered fingers.
16p12.1p12.3 triplication syndrome
EMILIN-1-related connective tissue disease
Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome
Leigh-like encephalopathy-optic atrophy-peripheral neuropathy syndrome
MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect
Isolated CHF
Isolated congenital hepatic fibrosis
pyridoxal phosphate binding protein
NAPTB
adaptor related protein complex 3 subunit beta 2
dJ70A9.1
adenylate kinase 9
hCaf1z
target of EGR1, exonuclease
KIAA0596
mitogen-activated protein kinase binding protein 1
ATP6E2
P31
Vma4
ATPase H+ transporting V1 subunit E1
VA68
Vma1
ATPase H+ transporting V1 subunit A
fls485
ssu-2
ssu-2 homolog (C. elegans)
KIAA0521
P114-RhoGEF
Rho-specific guanine nucleotide exchange factor p114
Rho/Rac guanine nucleotide exchange factor 18
BASD
Congenital bile acid synthesis defect
Autosomal dominant severe congenital neutropenia is a rare primary immunodeficiency disorder characterized by autosomal dominant inheritance, absolute neutrophil counts below 0.5x10E9/L in the peripheral blood (on three separate occasions over a six month period), granulopoiesis maturation arrest at the promyelocyte/myelocyte stage and early-onset, severe, recurrent bacterial infections.
Autosomal dominant severe congenital neutropenia
22q13 deletion
Phelan-McDermid syndrome
Monosomy 22q13 syndrome (deletion 22q13.3 syndrome or Phelan-McDermid syndrome) is a chromosome microdeletion syndrome characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features.
Monosomy 22q13
SMABF
Prenatal-onset spinal muscular atrophy with congenital bone fractures
Congenital muscular dystrophy, Davignon-Chauveau type
Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome
CL-L1
collectin subfamily member 10
Body cavity-based lymphoma
PEL
Primary effusion lymphoma (PEL) is a large B-cell lymphoma located in the body cavities, characterized by pleural, peritoneal, and pericardial fluid lymphomatous effusions and that is always associated with human herpes virus-8 (HHV-8).
Primary effusion lymphoma
chromosome 12 open reading frame 4
A2HS
FETUA
HSGA
fetuin A
alpha 2-HS glycoprotein
keratinocyte differentiation factor 1
Rare pediatric rheumatologic disease
GALC deficiency
Galactocerebrosidase deficiency
Galactosylceramidase deficiency
Globoid cell leukodystrophy
Krabbe disease is a lysosomal disorder that affects the white matter of the central and peripheral nervous systems. It includes infantile, late-infantile/juvenile and adult forms.
C19orf1
PER-EC1
PEREC1
TOM40
translocase of outer mitochondrial membrane 40
TAFII18
TATA-box binding protein associated factor 13
zinc finger HIT-type containing 3
DNAJA5
GS3
JJJ1
JJJ1 DnaJ domain protein homolog (S. cerevisiae)
DnaJ heat shock protein family (Hsp40) member C21
SKIP
skeletal muscle and kidney enriched inositol phosphatase
inositol polyphosphate-5-phosphatase K
HEED
WAIT-1
WD protein associating with integrin cytoplasmic tails 1
embryonic ectoderm development
P5CR2
pyrroline-5-carboxylate reductase 2
Embryonal carcinoma of the CNS
Embryonal carcinoma of the central nervous system
Takenouchi-Kosaki syndrome
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
Childhood-onset collagenous gastritis
Pediatric collagenous gastritis
CMT2 due to DGAT2 mutation
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation
Plantar lipomatosis-facial dysmorphism-developmental delay syndrome
Plantar lipomatosis-unusual facies-developmental delay syndrome
Pierpont syndrome is a rare subcutaneous tissue disorder characterized by axial hypotonia after birth, prolonged feeding difficulties, moderate to severe global developmental delay, seizures (in particular absence seizures), fetal digital pads, distinctive plantar fat pads anteromedial to the heels, deep palmar and plantar grooves. Additionally, distinct craniofacial dysmorphic features, notably a broad face with high forehead, high anterior hairline, narrow palpebral fissures that take on a crescent moon shape when smiling, broad nasal bridge and tip with anteverted nostrils, mild midfacial hypoplasia, long, smooth philtrum, thin upper lip vermillion, small, widely spaced teeth and flat occiput/microcephaly/brachycephaly, are also chararteristic. Over time, fat pads may become less prominent and disappear.
Pierpont syndrome
Urachal cyst is a congenital urachal anomaly (see this term) characterized by a failure of complete closure of the urachus, in which both ends are closed but the central lumen remains patent. It is typically asymptomatic but may become clinically significant when infected, presenting as a mass in the umbilical region accompanied by abdominal pain and fever.
Urachal cyst
SMO deficiency
Sterol-C4-methyl oxidase deficiency
Microcephaly-congenital cataract-psoriasiform dermatitis syndrome
Hereditary ceruloplasmin deficiency
Aceruloplasminemia is an adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms.
Aceruloplasminemia
Female infertility due to oocyte meiotic arrest
Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome
SFMMP
Split-foot malformation-mesoaxial polydactyly-nail abnormalities-sensorineural hearing loss syndrome
Split-foot malformation-mesoaxial polydactyly syndrome
AMNR
Acute macular neuroretinopathy
Osteofibrous dysplasia is a rare, genetic primary bone dysplasia characterized by the presence of a benign, fibro-osseous, osteolytic tumor typically located in the tibia (occasionally the fibula, or both) and usually involving the anterior diaphyseal cortex with adjacent cortical expansion. It may on occasion be asymptomatic or may present with a palpable mass, pain, tenderness and/or anterior bowing of the tibia.
Osteofibrous dysplasia
Dup(14)q(32)
Predisposition to adult-onset myeloproliferative neoplasm due to 14q32 duplication
Trisomy 14q32
14q32 duplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 14 that results in a predisposition to a number of adult-onset myeloproliferative neoplasms, including acute myeloid leukemia, chronic myelomonocytic leukemia, and myeloproliferative neoplasms, especially essential thrombocythemia. Progression to myelofibrosis and secondary acute myeloid leukemia can be observed.
14q32 duplication syndrome
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to HARS mutation
CMT2W
Autosomal dominant Charcot-Marie-Tooth disease type 2W
Camptodactyly syndrome, Guadalajara type 3 is a rare, genetic bone development disorder characterized by hand camptodactyly associated with facial dysmorphism (flat face, hypertelorism, telecanthus, symblepharon, simplified ears, retrognathia) and neck anomalies (short neck with stricking pterygia, muscle sclerosis). Additional features include spinal defects (e.g. cervical and dorso-lumbar spina bifida occulta), congenital shortness of the sternocleidomastoid muscle, flexed wrists and thin hands and feet. Brain structural anomalies, multiple nevi, micropenis and mild intellectual disability are also observed. Imaging reveals increased bone traveculae, cortical thickening of long bones and delayed bone age.
Camptodactyly syndrome, Guadalajara type 3
SIX2-related FND
SIX2-related frontonasal dysplasia
Amyoplasia congenita
Congenital amyoplasia
SPG76
Autosomal recessive spastic paraplegia type 76 is a rare, complex hereditary spastic paraplegia characterized by adult onset slowly progressive, mild to moderate lower limb spasticity and hyperreflexia, resulting in gait disturbances, commonly associated with upper limb hyperreflexia and dysarthria. Foot deformities (usually pes cavus) and extensor plantar responses are also frequent. Additional features may include ataxia, lower limb weakness/amyotrophy, abnormal bladder function, distal sensory loss and mild intellectual deterioration.
Autosomal recessive spastic paraplegia type 76
3-dehydrosphinganine reductase
DHSR
SDR35C1
short chain dehydrogenase/reductase family 35C, member 1
3-ketodihydrosphingosine reductase
Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome
Short stature-developmental delay-congenital heart defect syndrome
TKT deficiency
Transketolase deficiency
Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome
TBCK-related intellectual disability syndrome is a rare, genetic, syndromic intellectual disability characterized by usually profound intellectual disability with absent speech, severe infantile hypotonia with decreased or absent reflexes, markedly slow motor development (with no progress beyond the ability to sit independently), early-onset epilepsy, strabismus and post-natal onset of progressive brain atrophy (incl. loss of brain volume, ex vacuo ventriculomegaly, dysgenesis of corpus callosum, white matter abnormalities ranging from non-specific changes to leukodystrophy). Swallowing difficulties, respiratory insufficiency, osteoporosis and variable craniofacial dysmorphisms (incl. plagio/brachicephaly, bitemporal narrowing, high-arched eyebrows, high nasal bridge, anteverted nares, high palate, tented upper lip) may constitute additional clinical features.
TBCK-related intellectual disability syndrome
Congenital disorder of glycosylation due to PIGG deficiency
PIGG-CDG
Early-onset epilepsy-intellectual disability-brain anomalies syndrome
You-Hoover-Fong syndrome
TELO2-related intellectual disability-neurodevelopmental disorder
DDX41-related hematologic malignancy predisposition syndrome
Distal myopathy, Tateyama type is a rare, genetic, slowly progressive, distal myopathy disorder characterized by muscle atrophy and weakness limited to the small muscles of the hands and feet (in particular, thenar and hypothenar muscle atrophy), increased serum creatine kinase, and severely reduced caveolin-3 expression on muscle biopsy. Some patients may also show calf hypertrophy, pes cavus, and signs of muscle hyperexcitability.
Distal myopathy, Tateyama type
Focal nodular myositis
Inflammatory pseudotumor of skeletal muscle
Focal myositis is a rare inflammatory myopathy characterized by a localized swelling of skeletal muscle that is usually located in the lower extremities.
Focal myositis
YL8
RAB11A, member RAS oncogene family
64kD
leiomodin 1
MATA2
MATII
SAMS2
methionine adenosyltransferase 2A
Wernicke-Korsakoff syndrome
transketolase
Aphallia
Penis agenesis
Penile agenesis is a rare urogenital tract malformation characterized by complete congenital absence of the phallus. It is usually accompanied by a well-developed scrotum and presence of a skin tag at the anal verge (with or without a urethral meatal opening within it). Often, other genitourinary (e.g. cryptorchidism, renal agenesis and dysplasia, urinary reflux, prostate agenesis) as well as non-genitourinary abnormalities (including skeletal and neural disorders, anal stenosis, imperforate anus, cardiac defects) are associated.
Penile agenesis
Omphalomesenteric cyst
TMEM226
transmembrane protein 226
myomaker, myoblast fusion factor
serine tRNA ligase 1, cytoplasmic
seryl-tRNA synthetase
DCRC
DSRC
phosphatidylinositol-n-acetylglucosaminyltranferase subunit
phosphatidylinositol glycan anchor biosynthesis class P
ZZZ5
skeletrophin
mindbomb E3 ubiquitin protein ligase 2
Idiopathic retroperitoneal fibrosis
Ormond disease
Retroperitoneal fibrosis (RPF) is characterized by the development of a fibrotic mass surrounding retroperitoneal structures, such as aorta, vena cava, ureters and psoas muscle.
IgG4-related retroperitoneal fibrosis
HKLP2
NY-BR-62
kinesin family member 15
DGI
DGI without OI
Dentinogenesis imperfecta without osteogenesis imperfecta
Non-syndromic DGI
Non-syndromic dentinogenesis imperfecta
Opalescent teeth without OI
Opalescent teeth without osteogenesis imperfecta
Dentinogenesis imperfecta (DGI) is a hereditary dentin defect (see this term) characterized by abnormal dentin structure resulting in abnormal tooth development.
Dentinogenesis imperfecta
cytochrome c oxidase subunit 5A
scaffold protein involved in DNA repair
Dashurin
UFBP1
DDRGK domain containing 1
phosphatidylinositol glycan anchor biosynthesis class C
PARG1
Rho GTPase activating protein 29
CSRP2BP
PET117 homolog
annexin A11
H+/sugar symporter
solute carrier family 45 member 1
cilia and flagella associated protein 43
cilia and flagella associated protein 44
HSST2
sulfotransferase family 2B member 1
cathepsin B
16E1BP
thyroid receptor interacting protein 13
thyroid hormone receptor interactor 13
HERA-B
Era like 12S mitochondrial rRNA chaperone 1
DAB1, reelin adaptor protein
Divergent upstream protein
MRP1
Mismatch repair protein 1
mutS homolog 3
KIAA0842
pleckstrin homology and RUN domain containing M2
plasminogen activator, tissue type
leucine rich repeat LGI family member 4
Proliferating trichilemmal tumor is a rare large, multinodular, usually benign, tumor that is generally located in the posterior part of the scalp in aged women (over 50 years). It first appears as a painless nodule that later grows into a solid or partially cystic tumor that is mobile over the underlying subcutaneous tissues. It can present ulceration, inflammation or even bleeding and can cause necrosis of the adjacent tissues.
Proliferating trichilemmal cyst
centrosomal protein 78
KIAA0306
capicua transcriptional repressor
RSTI689
UNQ689
amelotin
ARM
KIAA1868
KU-MEL-1
armadillo repeat containing 9
receptor tyrosine kinase like orphan receptor 1
GRAMD6
WBP-2
WW domain binding protein 2
CTL4
DFNA72
NG22
TPPT
solute carrier family 44 member 4
DZIP2
DAZ interacting zinc finger protein 1 like
MGC3088
EPS8 like 2
Tg737
hTg737
polaris homolog
intraflagellar transport 88
CEP90
progesterone-induced blocking factor 1
progesterone immunomodulatory binding factor 1
CANPL1
muCANP
muCL
calpain 1
Hereditary keratoacanthoma
Multiple keratoacanthoma
Multiple familial keratoacanthoma (KA) of Witten and Zak is a rare a rare inherited skin cancer syndrome and is characterized by the coexistence of features characteristic of both multiple KA, Ferguson Smith type and generalized eruptive keratoacanthoma (see these terms), such as multiple small miliary-type lesions, larger self-healing lesions, and nodulo-ulcerative lesions .Lesions do not have a predilection for the mucosal surfaces. Transmission is autosomal dominant.
Familial keratoacanthoma
Vibratory urticaria is a rare, genetic urticaria characterized by the development of localized, short-lasting (resolving within 1 hour), pruritic, erythematous, edematous hives in response to repetitive frictional or vibratory stimulation of the skin, which in some cases is accompanied by facial flushing, headache or the sensation of a metallic taste. Concomitant local mast cell degranulation and increased histamine serum levels are additional typical findings.
Vibratory urticaria
Vibratory angioedema is a rare, inherited or sporadic, urticaria characterized by localized, typically long-lasting (hours to days), initially pruritic, painful, normocutaneous or erythematous, mucosal and/or cutaneous edema which is triggered by vibration. Laryngeal snoring-induced swelling may be life-threatening.
Vibratory angioedema
Ckb1
Ckb2
casein kinase 2 beta
CPX-I
complexin 1
FAM42A
RIA1
ribosome assembly 1 homolog (yeast)
elongation factor like GTPase 1
KIAA1278
fused homolog (Drosophila)
serine/threonine kinase 36
CD312
adhesion G protein-coupled receptor E2
SL1
TAFI48
TATA-box binding protein associated factor, RNA polymerase I subunit A
KIAA1023
IQ motif containing E
hsa-mir-204
microRNA 204
CGI-63
ETR1
FASN2B
NRBF1
mitochondrial 2-enoyl thioester reductase
nuclear receptor binding factor 1
mitochondrial trans-2-enoyl-CoA reductase
TIM50L
translocase of inner mitochondrial membrane 50
ACHM
Complete or incomplete color blindness
Pingelapese blindness
Rod monochromacy
Rod monochromatism
Total color blindness
Achromatopsia (ACHM) is a rare autosomal recessive retinal disorder characterized by color blindness, nystagmus, photophobia, and severely reduced visual acuity due to the absence or impairment of cone function.
Achromatopsia
Mutilating keratoderma of Vohwinkel
Mutilating keratoderma plus deafness
PPK mutilans and deafness
Vohwinkel syndrome
Keratoderma hereditarium mutilans is a rare, diffuse, mutilating, hereditary palmoplantar keratoderma disorder characterized by severe, honeycomb-pattern palmoplantar keratosis and pseudoainhum of the digits leading to autoamputation, associated with mild to moderate congenital sensorineural hearing loss. Additional features include stellate keratosis on the extensor surfaces of the fingers, feet, elbows and knees. Alopecia, onychogryphosis, nail dystrophy or clubbing, spastic paraplegia and myopathy may also be associated.
Keratoderma hereditarium mutilans
SPL
sphingosine-1-phosphate lyase 1
HALR
Histone-lysine N-methyltransferase 2C
KIAA1506
lysine methyltransferase 2C
kyphoscoliosis peptidase
CAMDI
coiled-coil protein associated with myosin II and DISC1
coiled-coil domain containing 141
60S ribosomal protein L35
L35
ribosomal protein L35
60S ribosomal protein L18
L18
ribosomal protein L18
ZPA
zona pellucida glycoprotein 2
ZPC
zona pellucida glycoprotein 3
VEGFR1
vascular endothelial growth factor receptor 1
vascular permeability factor receptor
fms related tyrosine kinase 1
RERE-related neurodevelopmental syndrome
Early-onset familial noncirrhotic portal hypertension
Carcinoma of vulva
Vulvar carcinoma
Sacrococcygeal teratoma
ECAA
ECCA
Extracranial carotid artery aneurysm
IPPFE
Idiopathic pleuropulmonary fibroelastosis
Idiopathic pleuroparenchymal fibroelastosis
Myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital anomalies-enteropathy syndrome
Myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital phenotypes-enteropathy syndrome
MIRAGE syndrome
Retinitis pigmentosa-deafness-premature aging-short stature-facial dysmorphism syndrome
Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome
DIAPH1-related sensorineural deafness-thrombocytopenia syndrome
DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome
Squamous cell carcinoma of the vulva
Vulvar squamous cell carcinoma
Basal cell carcinoma of vulva
Vulvar basal cell carcinoma
Adenocarcinoma of the vulva
Vulvar adenocarcinoma
Rare hyperkinetic movement disorder
Infantile-onset orofacial-trunk-limbs dyskinesia
Infantile-onset generalized dyskinesia with orofacial involvement
Childhood-onset benign chorea with striatal involvement
Squamous cell carcinoma of the hypopharynx
Squamous cell carcinoma of the larynx
guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1
transducin beta chain 1
G protein subunit beta 1
2PP2A
IPP2A2
PHAPII
Template-Activating Factor-I, chromatin remodelling factor
protein phosphatase type 2A inhibitor
SET nuclear proto-oncogene
HSPC302
TBC1 domain containing kinase
Greither disease
Keratosis extremitatum hereditaria progrediens
Keratosis palmoplantaris transgrediens et progrediens
Progressive diffuse PPK
Progressive diffuse palmoplantar keratoderma
Transgrediens et progrediens PPK
Transgrediens et progrediens palmoplantar keratoderma
LYK5
NY-BR-96
STE20-like pseudokinase
STRAD
Stlk
STE20-related kinase adaptor alpha
AR-CMT2T
Autosomal recessive axonal Charcot-Marie-Tooth disease type 2T
Charcot-Marie-Tooth disease type 2T
14-3-3 gamma
PPP1R170
protein phosphatase 1, regulatory subunit 170
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma
Purpura fulminans (PF) is a life-threatening, rapidly progressive thrombotic disorder affecting mainly neonates and children that is characterized by purpuric skin lesions and disseminated intravascular coagulation. PF may progress rapidly to multi-organ failure caused by thrombotic occlusion of small and medium-sized blood vessels. There are two forms of PF that are classified according to triggering mechanisms: acute infectious (the most common form), and idiopathic PF.
Acquired purpura fulminans
CAL
FIG
GOPC1
PIST
golgi associated PDZ and coiled-coil motif containing
DUTT1
SAX3
roundabout guidance receptor 1
9q33.3-q34.11 microdeletion syndrome
Deletion 9q33.3q34.11
Monosomy 9q33.3-q34.11
Monosomy 9q33.3q34.11
9q33.3q34.11 microdeletion syndrome
C11ORF73-related autosomal recessive hypomyelinating leukoencephalopathy
Hypomyelinating leukodystrophy due to hikeshi deficiency
C11ORF73-related autosomal recessive hypomyelinating leukodystrophy
Congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome
Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome
Congenital absence of the scrotum
Congenital scrotal absence
Congenital scrotal agenesis
Congenital agenesis of the scrotum
Familial monosomy 7 syndrome
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_2199 with label: Epidermolytic palmoplantar keratoderma
CG-6
ferric chelate reductase 1 like
GPI7
LAS21
phosphatidylinositol glycan anchor biosynthesis class G
SIX homeobox 2
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
GCPL1
KAE1
OSGEP1
PRSMG1
TCS3
O-sialoglycoprotein endopeptidase
BUD32
Nori-2p
prpk
TP53 regulating kinase
CGI-121
CGI121
TP53RK binding protein
CVG5
DNA segment on chromosome X (unique) 9879 expressed sequence
DXS9879E
DXS9951E
ESO3
ITBA2
Pcc1
L antigen family member 3
Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome
Kyphoscoliosis-lateral tongue atrophy-HSP syndrome
Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome
Gershoni-Baruch syndrome
Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome
Pat1a
PAT1 homolog 2
meiosis specific with OB domains
Epiphysial-vertebral-ear dysplasia-nose-plus associated findings syndrome
EVEN-plus syndrome
Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome
ArPIKfyve
Vac14, PIKFYVE complex component
Harel-Yoon syndrome
Optic atrophy-peripheral neuropathy-developmental delay syndrome
diacylglycerol O-acyltransferase 2
class VIII beta-tubulin
tubulin beta 8 class VIII
Rare genetic hyperkinetic movement disorder
Non-inflammatory vasculopathy
Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-3
transducin beta chain 3
G protein subunit beta 3
FKSG32
pseudouridylate synthase 3
KIAA0683
TEL2
hCLK2
telomere maintenance 2
DIPG
Diffuse intrinsic pontine glioma
C12ORF65-related COXPD
C12ORF65-related combined oxidative phosphorylation defect
Epidermal nevus with epidermolytic hyperkeratosis
Epidermolytic epidermal nevus
Epidermolytic verrucous epidermal nevus
Epidermolytic nevus
MME-related autosomal dominant CMT2
MME-related autosomal dominant hereditary motor and sensory neuropathy type 2
MME-related autosomal dominant Charcot Marie Tooth disease type 2
SCA43
Spinocerebellar ataxia type 43 is a rare autosomal dominant cerebellar ataxia type I disorder characterized by late adult-onset of slowly progressive cerebellar ataxia, typically presenting with balance and gait disturbances, in association with axonal peripheral neuropathy resulting in reduced/absent deep tendon reflexes and sensory impairment. Lower limb pain and amyotrophy may be present, as well as various cerebellar signs, including dysarthria, nystagmus, hypometric saccades and tremor.
Spinocerebellar ataxia type 43
Lenk-Ploski syndrome
Childhood-onset basal ganglia degeneration syndrome
Keratosis pilaris atrophicans
Amyloid lichen
Lichen amyloidosus
Lichen amyloidosis is a rare chronic form of cutaneous amyloidosis (see this term), a skin disease characterized by the accumulation of amyloid deposits in the dermis, clinically characterized by the development of pruritic, often pigmented, hyperkeratotic papules on trunk and extremities, especially on the shins, and histologically by the deposition of amyloid or amyloid-like proteins in the papillary dermis.
Lichen amyloidosis
Cystosarcoma phyllodes of the prostate
Phyllodes tumor of the prostate
Luteal-phase-dependent febrile episode
Luteal-phase-dependent periodic fever
Menstrual cycle-dependent febrile episode
Menstrual cycle-dependent periodic fever
Rogers syndrome
TRMA
Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness
Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness.
Thiamine-responsive megaloblastic anemia syndrome
FANCW
RNF201
ring finger and WD repeat domain 3
NET54
tudor domain containing 9
Zfp291
S-phase cyclin A associated protein in the ER
Biliary atresia and associated disorders
Syndromic biliary atresia
Aquagenic keratoderma
Aquagenic syringeal acrokeratoderma
Aquagenic wrinkling of the palms
Transient reactive papulotranslucent acrokeratoderma
Aquagenic palmoplantar keratoderma
Genetic inflammatory or rheumatoid-like osteoarthropathy
Overgrowth or tall stature syndrome with skeletal involvement
Dysostosis with brachydactyly without extraskeletal manifestations
Dysostosis with brachydactyly with extraskeletal manifestations
Longitudinal limb defect
Terminal transverse limb defect
Non-syndromic preaxial polydactyly
Non-syndromic postaxial polydactyly
Non-syndromic complex polydactyly
Hyaline fibromatosis syndrome
Ectrodactyly with and without other manifestations
LRP5-related primary osteoporosis
Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome
Overgrowth syndrome with 2q37 translocation
Complete hemimelia
Mirror-image polydactyly
Short rib-polydactyly syndrome type 5
Sugarman-Hager-Kulik syndrome
Sugarman brachydactyly is a rare, genetic, congenital limb malformation characterized by brachydactyly of fingers, with major proximal phalangeal shortening and immobile proximal interphalangeal joints, as well as dorsally and proximally placed, non-articulating great toes (with or without angulation). Radiographic findings of hands include bilateral double first metacarpals and biphalangeal fifth fingers. There have been no further descriptions in the literature since 1982.
Sugarman brachydactyly
MYBPC1-related autosomal recessive non-lethal AMC syndrome
MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
Limbic encephalitis with neurexin-3 antibodies
CaM kinase II alpha subunit
CaM-kinase II alpha chain
CaMK-II alpha subunit
CaMKIINalpha
KIAA0968
calcium/calmodulin-dependent protein kinase II alpha-B subunit
calcium/calmodulin-dependent protein kinase type II alpha chain
calcium/calmodulin dependent protein kinase II alpha
CAM2
CAMK2
CaM kinase II beta subunit
CaM-kinase II beta chain
calcium/calmodulin-dependent protein kinase type II beta chain
proline rich calmodulin-dependent protein kinase
calcium/calmodulin dependent protein kinase II beta
CT111
cancer/testis antigen 111
centrosomal protein 55
fungi, that predominantly affects the scalp and that is characterized by the development of painful crusty lesions covered with follicular pustules and surrounded by erythematous alopecic areas, that can later evolve into abscesses and leave permanent cicatricial alopecia. Lesions can be associated with regional lymphadenopathy.
Kerion celsi
TBM
Tubercular meningitis
Tuberculous meningitis
MTCT of syphilis
Mother-to-child transmission of syphilis
Congenital syphilis
Autoimmune/inflammatory optic neuropathy
CRION
Chronic recurrent isolated optic neuritis
Chronic relapsing inflammatory optic neuropathy
ION
Isolated optic neuritis
RINR
Recurrent idiopathic neuroretinitis
OPN
Optic perineuritis
Calcified epithelial carcinoma of Malherbe
Calcifying epitheliocarcinoma
Malignant pilomatricoma
Trichomatrical carcinoma
Pilomatrix carcinoma
ABCX
ATP binding cassette subfamily A member 7
LCHAD deficiency
LCHADD
Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood with hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy.
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Agenesis of corpus callosum with chorioretinal abnormality
Aicardi syndrome is a rare neurodevelopmental disorder defined by the triad of agenesis of the corpus callosum (total or partial), typical chorioretinal lacunae and infantile spasms that affect almost exclusively females.
Aicardi syndrome
Cardiomyopathic lentiginosis
Familial multiple lentigines syndrome
LEOPARD syndrome
Noonan syndrome with multiple lentigines (NSML), previously known as LEOPARD syndrome, is a rare multisystem genetic disorder characterized by lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features.
Noonan syndrome with multiple lentigines
Monosomy 16p13.2
16p13.2 microdeletion syndrome
ORAS
OTULIN deficiency
OTULIN-related autoinflammatory syndrome
Otulipenia
Infantile-onset periodic fever-panniculitis-dermatosis syndrome
Thauvin-Robinet-Faivre syndrome
Tall stature-intellectual disability-renal anomalies syndrome
MARCH syndrome
Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome
Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom
SIN3A-related intellectual disability syndrome
SIN3A-related intellectual disability syndrome due to a point mutation
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome
cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A
phosphodiesterase 10A
RRP4
Rrp4p
hRrp4p
homolog of yeast RRP4 (ribosomal RNA processing 4), 3' 5' exoribonuclease (RRP4)
exosome component 2
Squamous cell carcinoma of the nasal cavity and sinuses
Squamous cell carcinoma of the nasal cavity and paranasal sinuses
Squamous cell carcinoma of the oropharynx
Squamous cell carcinoma of salivary glands
MGC7199
NgBR
Nogo-B receptor
TANGO14
transport and golgi organization 14 homolog (Drosophila)
NUS1, dehydrodolichyl diphosphate synthase subunit
CNA1
PPP2B
calcineurin A alpha
protein phosphatase 2B, catalytic subunit, alpha isoform
protein phosphatase 3 catalytic subunit alpha
APC1
solute carrier family 25 member 24
PMSE syndrome
Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome
Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract
Osteosclerotic metaphyseal dysplasia
SMILE
transmembrane and tetratricopeptide repeat containing 3
GLI family zinc finger 1
PIG27
dynein axonemal light chain 4
ADAMTS-4
KIAA0366
ADAM metallopeptidase with thrombospondin type 1 motif 3
EPM2
PME type 2
Progressive myoclonic epilepsy type 2
Progressive myoclonus epilepsy type 2
Lafora disease (LD) is a rare, inherited, severe, progressive myoclonic epilepsy characterized by myoclonus and/or generalized seizures, visual hallucinations (partial occipital seizures), and progressive neurological decline.
Lafora disease
CAD11
OB-Cadherin
cadherin 11
myosin IH
IFPS
filaggrin family member 2
Deletion 8q24.1
Langer-Giedion syndrome
Monosomy 8q24.1
Langer-Giedon syndrome, also known as trichorhinophalangeal syndrome type 2, is a very rare, genetic, multiple congenital anomaly disorder characterized by bone abnormalities, distinctive facial features, multiple exostoses, and intellectual disability.
Trichorhinophalangeal syndrome type 2
Cochleovestibular dysplasia
Cochlear nerve deficiency
Squamous cell carcinoma of the oral cavity
Squamous cell carcinoma of the lip
Squamous cell carcinoma of oral cavity and lip
Mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
Metopic ridging-ptosis-facial dysmorphism syndrome
STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome
Proximal del(4)(q25)
Proximal monosomy 4q25
4q25 proximal deletion syndrome
ACER3-related early childhood-onset progressive leukodystrophy
Leukodystrophy due to alkaline ceramidase 3 deficiency
Alkaline ceramidase 3 deficiency
Erythema exsudativum multiforme majus
Erythema multiforme majus
Erythema multiforme major
Malignant mesothelioma is a fatal asbestos-associated malignancy arising in the lining cells (mesothelium) of the pleural and peritoneal cavities, as well as in the pericardium and the tunica vaginalis.
Pleural mesothelioma
signal recognition particle 54
Larsen syndrome (LS) is a rare skeletal dysplasia characterized by congenital dislocation of large joints, foot deformities, cervical spine dysplasia, scoliosis, spatula-shaped distal phalanges and distinctive craniofacial abnormalities, including cleft palate.
Autosomal dominant Larsen syndrome
NRX
nucleoredoxin
Migratory myiasis
Creeping myiasis
CABV syndrome
CANVAS
Cerebellar ataxia with bilateral vestibulopathy syndrome
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
SCID due to LAT deficiency
Severe combined immunodeficiency due to LAT deficiency
CID due to Moesin deficiency
MSN-related combined immunodeficiency
X-linked Moesin-associated immunodeficiency
Combined immunodeficiency due to Moesin deficiency
BAF60B
CRACD2
PRO2451
Rsc6p
SWI/SNF complex 60 kDa subunit B
Swp73-like protein
chromatin remodeling complex BAF60B subunit
mammalian chromatin remodeling complex BRG1-associated factor 60B
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2
Graham Little syndrome
Piccardi-Lassueur-Little syndrome
Graham Little-Piccardi-Lassueur syndrome is a variant of lichen planopilaris (see this term) characterized by the clinical triad of progressive cicatricial (scarring) alopecia of the scalp, follicular keratotic papules on glabrous skin, and variable alopecia of the axillae and groin.
Graham Little-Piccardi-Lassueur syndrome
MGA8
3-methylglutaconic aciduria type 8
3-methylglutaconic aciduria-epilepsy-spasticity-severe intellectual disability syndrome
MGA9
3-methylglutaconic aciduria type 9
CID due to GINS1 deficiency
Combined immunodeficiency with intrauterine growth retardation-NK cell deficiency-neutropenia
Combined immunodeficiency with intrauterine growth retardation-natural killer cell deficiency-neutropenia
Combined immunodeficiency due to GINS1 deficiency
Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome
Cerebrorenal syndrome, Perez type
Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome
Mucopolysaccharidosis-like plus disease
Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders
beta'-COP
betaprime-COP
coatomer protein complex subunit beta prime
coatomer protein complex subunit beta 2
SSBP
mtSSB
single stranded DNA binding protein 1
VIDD
Ventilator-induced diaphragmatic dysfunction
KIAA1790
RIPK6
Roco1
leucine rich repeat kinase 1
BEN domain containing 8
BEND8
BTBD30
NAC-1
nucleus accumbens associated 1
5-HT1A
5-hydroxytryptamine receptor 1A
CDKL5 deficiency disorder
CDKL5-related epileptic encephalopathy
Infantile subacute necrotizing encephalopathy
Leigh disease
Leigh syndrome or subacute necrotizing encephalomyelopathy is a progressive neurological disease defined by specific neuropathological features associating brainstem and basal ganglia lesions.
Leigh syndrome
PNEN
Pancreatic NEN
Pancreatic neuroendocrine neoplasm
Neuroendocrine neoplasm of pancreas
Functioning PNET
Functioning pancreatic NET
Functioning pancreatic neuroendocrine tumor
Functioning well-differentiated NEN of pancreas
Functioning well-differentiated neuroendocrine neoplasm of pancreas
Functioning well-differentiated pancreatic NEN
Functioning well-differentiated pancreatic neuroendocrine neoplasm
Functioning neuroendocrine tumor of pancreas
Non-functioning PNET
Non-functioning pancreatic NET
Non-functioning pancreatic neuroendocrine tumor
Non-functioning well-differentiated NEN of pancreas
Non-functioning well-differentiated neuroendocrine neoplasm of pancreas
Non-functioning well-differentiated pancreatic NEN
Non-functioning well-differentiated pancreatic neuroendocrine neoplasm
Non-functioning neuroendocrine tumor of pancreas
Serotonin-producing PNET
Serotonin-producing pancreatic NET
Serotonin-producing pancreatic neuroendocrine tumor
Serotonin-producing neuroendocrine tumor of pancreas
Pancreatic NEC
Pancreatic neuroendocrine carcinoma
Poorly-differentiated NEN of pancreas
Poorly-differentiated neuroendocrine neoplasm of pancreas
Poorly-differentiated pancreatic NEN
Poorly-differentiated pancreatic neuroendocrine neoplasm
Neuroendocrine carcinoma of pancreas
MiNEN of pancreas
Pancreatic MiNEN
Pancreatic mixed neuroendocrine-nonneuroendocrine neoplasm
Mixed neuroendocrine-nonneuroendocrine neoplasm of pancreas
use http://www.orpha.net/ORDO/Orphanet_423975 with label: Neuroendocrine tumor of the small intestine
OBSOLETE: Neuroendocrine tumor of small intestine
Esophageal NEN
Esophageal neuroendocrine neoplasm
NEN of esophagus
Neuroendocrine neoplasm of esophagus
Apple-peel intestinal atresia-ocular anomalies-microcephaly syndrome
Jejunal atresia-microcephaly-ocular anomalies syndrome
Stromme syndrome
Primary adrenal insufficiency-steroid-resistant nephrotic syndrome due to SGPL1 deficiency
Familial steroid-resistant nephrotic syndrome with adrenal insufficiency
Autosomal recessive complex SPG due to Kennedy pathway dysfunction
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
YY1 haploinsufficiency syndrome
Gabriele-de Vries syndrome
ARV1 homolog, fatty acid homeostasis modulator
CD224
gamma-glutamyltransferase 1
SJS/TEN overlap syndrome
Stevens-Johnson/TEN overlap syndrome
Stevens-Johnson/toxic epidermal necrolysis overlap syndrome
Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome
, transmitted through the bite of hematophagous female phlebotomine sand flies. The clinical spectrum ranges from asymptomatic to clinically overt disease which can remain localized to the skin or disseminate to the upper oral and respiratory mucous membranes or throughout the reticulo-endothelial system. Three main clinical syndromes have been described: visceral (or Kala-Azar; with fever, weight loss, hepatosplenomegaly), cutaneous, and mucocutaneous leishmaniasis (cutaneous or mucocutaneous ulceration).
Leishmaniasis
RDHS
SDR-O
short chain dehydrogenase/reductase family 9C member 7
eps15R
epidermal growth factor receptor pathway substrate 15 like 1
kinesin family member 20A
CT143
PF6
sperm associated antigen 17
AGF
ARP5
angiopoietin-related protein 5
angiopoietin like 6
gumby
ubiquitin thioesterase otulin
OTU deubiquitinase with linear linkage specificity
GASP2
G protein-coupled receptor associated sorting protein 2
Donohue syndrome
Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome; see these terms) characterized by intrauterine and mainly postnatal severe growth retardation.
Leprechaunism
CGI-87
TTC-15
trafficking protein particle complex 12
NOR-90
UBF
UBF1
UBF2
upstream binding transcription factor
FGFIBP
FGF1 intracellular binding protein
Singh-Williams-McAlister syndrome
Talo-patello-scaphoid osteolysis is an extremely rare form of primary osteolysis (see this term), described in two sisters to date, characterized by bilateral osteolysis of the tali, scaphoids, and patellae (accompanied by periarticular swelling and pain) and short fourth metacarpals (brachydactyly type E; see this term), in the absence of renal disease. Autosomal recessive inheritance has been suggested.
Talo-patello-scaphoid osteolysis
Autosomal recessive childhood-onset dystonia, DYT29 type
Childhood-onset generalized dystonia-optic atrophy syndrome
DYT29
Dystonia 29
Mitochondrial enoyl CoA reductase protein-associated neurodegeneration syndrome
MEPAN syndrome
Basel-Vanagaite-Sirota syndrome
Microlissencephaly-micromelia syndrome is a syndrome of abnormal cortical development, characterized by severe prenatal polyhydramnios, postnatal microcephaly, lissencephaly, upper limb micromelia, dysmorphic facies (coarse face, hypertrichosis, and short nose with long philtrum), intractable seizures, and early death. Hypoparathyroidism was noted in one case.
Microlissencephaly-micromelia syndrome
Rajab-Spranger syndrome
Lipodystrophy-intellectual disability-deafness syndrome is an extremely rare form of genetic lipodystrophy (see this term), reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested.
Lipodystrophy-intellectual disability-deafness syndrome
Ahn-Lerman-Sagie syndrome
Zellweger-like syndrome without peroxisomal anomalies is an extremely rare mitochondrial disorder characterized by facial dysmorphism similar to that seen in Zellweger syndrome (see this term), such as frontal bossing, high forehead, upslanting palpebral fissures, hypoplastic supraorbital ridges, and epicanthal folds, and in addition, pale skin, profound hypotonia, developmental delay, and minor metabolic anomalies. No peroxysomal defects, however, have been reported. Transmission is thought to be autosomal recessive.
Zellweger-like syndrome without peroxisomal anomalies
Boyadjiev-Jabs syndrome
Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia.
Craniolenticulosutural dysplasia
Mégarbané-Loiselet syndrome
Branchiogenic deafness syndrome is a multiple congenital anomalies syndrome, described in one family to date, characterized by branchial cysts or fistulae; ear malformations; congenital hearing loss (conductive, sensorineural, and mixed); internal auditory canal hypoplasia; strabismus; trismus; abnormal fifth fingers; vitiliginous lesions, short stature; and mild learning disability. Renal and uretral abnormalities are absent.
Branchiogenic deafness syndrome
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_1855 with label: Spondyloenchondrodysplasia
Spondylometaphyseal dysplasia with combined immunodeficiency
Verloes-Deprez syndrome
Duane anomaly-myopathy-scoliosis syndrome is characterised by the association of bilateral Duane anomaly type 3, severe scoliosis of early onset, congenital myopathy with hypotonia without muscular weakness, delayed motor development, and short stature. It has been described in one pair of sibs. The Duane type 3 anomaly consists of eye abduction and adduction palsy, globe retraction and narrowing of the palpebral fissure. Muscular biopsy shows aspecific myopathy. Intellectual development is normal. The syndrome is most likely inherited in an autosomal recessive manner. It differs from the Crisfield-Dretakis-Sharpe syndrome, in which short stature and muscular features are absent. Surgery of the scoliosis is necessary. Functional prognosis depends on the severity of the visual handicap.
Duane anomaly-myopathy-scoliosis syndrome
Bartonellosis due to Bartonella henselae infection
, that is transmitted to humans via a scratch or bite of an infected cat and that has a variable clinical presentation but that usually manifests with an erythematous papule at the site of inoculation followed by chronic regional lymphadenopathy. Clinical course is usually self-limiting but disseminated illness with high fever, hepatosplenomegaly, granulomatous osteolytic lesions, encephalitis, retinitis, and atypical pneumonia can also occur. Cat-scratch disease can atypically present as parinaud oculoglandular syndrome (unilateral conjunctivitis and preauricular lymphadenopathy).
Cat-scratch disease
Familial intestinal malrotation
Hyaluronidase 2 deficiency
Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome
Deletion 8q24.3
Monosomy 8q24.3
Verheij syndrome
8q24.3 deletion syndrome
Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome
OFD18
Oral-facial-digital syndrome type 18
Orofaciodigital syndrome type 18
Oral-facial-digital syndrome with short stature and brachymesophalangy
Congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome
Non-phenylketonuric non-BH4-deficiency hyperphenylalaninemia
Hyperphenylalaninemia due to DNAJC12 deficiency
Generalized basal epidermolysis bullosa simplex with skin atrophy, scarring and hair loss
EXTL3-related neuro-immuno-skeletal dysplasia syndrome
Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 deficiency
Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome
MYSM1 deficiency
Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
APHC
alkaline phytoceramidase
alkaline ceramidase 3
C-P4Halpha(I)
collagen prolyl 4-hydroxylase alpha(I)
prolyl 4-hydroxylase subunit alpha 1
LST005
MST
misato
misato 1, mitochondrial distribution and morphology regulator
KIAA1803
Zfp462
zinc finger protein 462
Leptospirosis is an anthropozoonosis caused by spiral-shaped bacteria belonging to the genus Leptospira. Leptospirosis is a widespread zoonosis with a worldwide distribution and has emerged as a major public health problem in developing countries in South-East Asia and South America.
Leptospirosis
Tyro11
EPH receptor B4
Histiocytic necrotizing lymphadenitis
Kikuchi disease
Kikuchi-Fujimoto disease (KFD) is a benign and self-limited disorder, characterized by regional cervical lymphadenopathy with tenderness, usually accompanied with mild fever and night sweats. Less frequent symptoms include weight loss, nausea, vomiting, sore throat.
Kikuchi-Fujimoto disease
Mammary polyadenomatosis
Mammary polyadenomatosis is characterised by the presence in both breasts of multiple voluminous fibroadenomas with heterogeneous echo patterns.
Multiple fibroadenoma of the breast
Keratosis palmoplantaris striata
Keratosis palmoplantaris striata et areata
Keratosis palmoplantaris varians of Wachters
Striate palmoplantar keratoderma is an isolated, focal, hereditary palmoplantar keratoderma characterized by linear hyperkeratosis along the flexor aspect of the fingers and on palms, as well as focal hyperkeratosis of the plantar skin. Patients present with painful thickening of the skin on palms and soles, with occasional fissuring, blistering and hyperhidrosis. Rarely, hyperkeratosis on other areas may be seen (knees, dorsal aspects of the digits). Histopatologically, widened intercellular spaces between keratinocytes are observed.
Striate palmoplantar keratoderma
Erythrokeratolysis hiemalis
Oudtshoorn disease
Keratolytic winter erythema is a rare epidermal disease, characterized by recurrent centrifugal palmoplantar peeling and erythema presenting seasonal variation (cold weather). Skin lesions may spread to the dorsum of hands and feet and to the interdigital spaces. Lower legs, knees and thighs may also be involved. Episodes may be preceded by itch and hyperhidrosis. Skin biopsy reveals an epidermal spongiosis with clefting in the stratum corneum, followed by regrowth. Keratolytic winter erythema follows an autosomal dominant mode of transmission.
Keratolytic winter erythema
Eccrine tumors-ectodermal dysplasia
Keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome
Palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome
Palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome
SSPS
Schöpf-Schulz-Passarge syndrome (SSPS) is a rare autosomal recessive ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy.
Schöpf-Schulz-Passarge syndrome
BLC
BOCD
Blomstrand chondrodysplasia
Blomstrand osteochondrodysplasia
Chondrodysplasia, Blomstrand type
Blomstrand lethal chondrodysplasia (BLC) is a neonatal osteosclerotic dysplasia (see this term) characterized by advanced endochondral bone maturation, very short limbs, dwarfism and prenatal lethality.
Blomstrand lethal chondrodysplasia
Encephalopathy with basal ganglia calcification
Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid
Aicardi-Goutières syndrome (AGS) is an inherited, subacute encephalopathy characterised by the association of basal ganglia calcification, leukodystrophy and cerebrospinal fluid (CSF) lymphocytosis.
Aicardi-Goutières syndrome
HPRT complete deficiency
HPRT deficiency grade IV
Hypoxanthine guanine phosphoribosyltransferase complete deficiency
Hypoxanthine guanine phosphoribosyltransferase deficiency, grade IV
Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioral problems.
use http://www.orpha.net/ORDO/Orphanet_404560 with label: Familial atypical multiple mole melanoma syndrome
OBSOLETE: Melanoma-pancreatic cancer syndrome
VPS33A, CORVET/HOPS core subunit
NY-CO-10
SDCCAG-10
CWC27 spliceosome associated protein homolog
GAC63
GRIP1-dependent nuclear receptor coactivator
HUEL
ZNT9
solute carrier family 30 member 9
KIAA1724
SELI
SEPI
selenoprotein I
KIAA1042
MILT1
O-linked N-acetylglucosamine transferase interacting protein 106
OGT(O Glc NAc transferase) interacting protein 106 KDa
OIP106
milton homolog 1 (Drosophila)
trafficking kinesin protein 1
CGI-77
DUBA5
OTU domain containing 6B
LAT1
linker for activation of T cells, transmembrane adaptor
linker for activation of T cells
SQTS
Familial short QT syndrome is a newly described cardiologic entity that associates a short QT interval (QT and QTc 300 ms) on the surface electrocardiogram (ECG) with a high risk of syncope or sudden death due to malignant ventricular arrhythmia.
Familial short QT syndrome
Torsade-de-pointes (TdP) syndrome with short coupling interval is a very rare variant of Torsade de pointes, a polymorphic ventricular tachycardia, which is characterized by a short coupling interval of the first TdP beat on electrocardiogram in the absence of any structural heart disease. It manifests in early adulthood with syncope, often results in ventricular fibrillation and shows a high risk of sudden cardiac death.
Torsade-de-pointes syndrome with short coupling interval
BCKD deficiency
BCKDH deficiency
Branched-chain 2-ketoacid dehydrogenase deficiency
Branched-chain ketoaciduria
MSUD
Maple syrup urine disease (MSUD) is a rare inherited disorder of branched-chain amino acid metabolism classically characterized by poor feeding, lethargy, vomiting and a maple syrup odor in the cerumen (and later in urine) noted soon after birth, followed by progressive encephalopathy and central respiratory failure if untreated. The four overlapping phenotypic subtypes are: classic, intermediate, intermittent and thiamine-responsive MSUD (see these terms).
Maple syrup urine disease
Ethylmalonic acid encephalopathy (EE) is defined by elevated excretion of ethylmalonic acid (EMA) with recurrent petechiae, orthostatic acrocyanosis and chronic diarrhoea associated with neurodevelopmental delay, psychomotor regression and hypotonia with brain magnetic resonance imaging (MRI) abnormalities.
Ethylmalonic encephalopathy
Arylsulfatase A deficiency
MLD
Metachromatic leukodystrophy (MLD) is a rare lysosomal storage disorder characterized byintralysosomal accumulation of sulfatides in various tissues, leading to progressive deterioration of motor and neurocognitive function.
Metachromatic leukodystrophy
CLPD-NK
CNKL
Chronic NK lymphocytosis
Chronic NK-cell lymphocytosis
Chronic lymphoproliferative disorder of NK-cells
NK-cell lineage granular lymphocyte proliferative disorder
Chronic lymphoproliferative disorder of natural killer cells
Large granular lymphocyte leukemia
FTCD deficiency
Formiminotransferase cyclodeaminase deficiency
Glutamate formiminotransferase deficiency
Formiminoglutamic aciduria, in its moderate form and in the absence of histidine administration, is characterized by mild developmental delay and elevated concentrations of formiminoglutamate (FIGLU) in the urine. A more severe phenotype has been described in five members of a Japanese family and included severe intellectual deficit, psychomotor retardation and megaloblastic anemia.
Formiminoglutamic aciduria
AREI
Autosomal recessive epidermolytic ichthyosis
Congenital cerebellar ataxia due to RNU12 mutation
CAG4A
canopy FGF signaling regulator 3
ATP synthase F1 subunit delta
Acute lymphoblastic leukemia/lymphoma
Acute lymphocytic leukemia
Acute lymphoblastic leukaemia (ALL) is a malignant proliferation of lymphoid cells blocked at an early stage of differentiation and accounts for 75% of all cases of childhood leukaemia.
Acute lymphoblastic leukemia
HGFIN
NMB
glycoprotein NMB
glycoprotein nmb-like protein
glycoprotein nonmetastatic melanoma protein B
hematopoietic growth factor inducible neurokinin-1
osteoactivin
transmembrane glycoprotein
glycoprotein nmb
chromosome X open reading frame 56
SPG78
Autosomal recessive spastic paraplegia type 78
Skraban-Deardorff syndrome
Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome
AML M5
Acute monocytic leukemia
Acute monoblastic leukemia (AML-M5), is one of the most common subtypes of acute myeloid leukemia (AML; see this term) that is either comprised of more than 80% of monoblasts (AML-M5a) or 30-80% monoblasts with (pro)monocytic differentiation (AML-M5b). AML-M5 presents with asthenia, pallor, fever, and dizziness. Specific features of AML-M5 include hyperleukocytosis, propensity for extramedullary infiltrates, coagulation abnormalities including disseminated intravascular coagulation and neurological disorders. Leukemia cutis and gingival infiltration can also be seen. A characteristic translocation observed in AML-M5 is t(9;11).
Acute monoblastic leukemia
non-SMC condensin II complex subunit D3
Serpentine-like syndrome
Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome
ERGIC-32
ERGIC32
KIAA1181
NET24
endoplasmic reticulum-golgi intermediate compartment 1
BAF45d
ubi-d4
double PHD fingers 2
IFI-4
OIASI
2'-5'-oligoadenylate synthetase 1
cilia and flagella associated protein 300
WEE1 homolog 2
ATP13A2-related parkinsonism
Lissencephaly type 2
Cobblestone lissencephaly is a rare central nervous system malformation which includes a group of diseases that are characterized by a bumpy (or pebbled) appearance of the cerebral cortex, associated with a thickened cortex, reduction in normal sulcation, ventriculomegaly and reduced, abnormal white matter, as well as brainstem and cerebellum hypoplasia and corpus callosum agenesis. Patients generally present variable degrees of developmental delay, hypotonia and ocular abnomalities, however muscular and ocular involvement may be absent.
Cobblestone lissencephaly
Idiopathic infantile arterial calcification
Idiopathic obliterative arteriopathy
Infantile arteriosclerosis
Occlusive infantile arteriopathy
Idiopathic arterial calcification of infancy is a rare condition characterized by extensive calcification and stenosis of the large and medium sized arteries.
Generalized arterial calcification of infancy
WILM
Warts-hypogammaglobulinemia-infections-myelokathexis syndrome
Warts-infections-leukopenia-myelokatexis syndrome
WHIM (warts, hypogammaglobulinemia, infections, and myelokathexis) syndrome is a congenital autosomal dominant immune deficiency characterized by abnormal retention of mature neutrophils in the bone marrow (myelokathexis) and occasional hypogammaglobulinemia, associated with an increased risk for bacterial infections and a susceptibility to human papillomavirus (HPV) induced lesions (cutaneous warts, genital dysplasia and invasive mucosal carcinoma).
WHIM syndrome
AML M4
AMMoL
Acute myelomonocytic leukemia (AML-M4) is a form of acute myeloid leukemia (AML; see this term) that usually presents with fever, pallor, dyspnoea, fatigue, loss of weight and bleeding disorders. Leukemia cutis and gingival infiltration can also be seen. AML-M4 may in some cases be associated with abnormal bone marrow eosinophilia (AML-M4Eo) and/or with inv (16) which is associated with a high response rate to chemotherapy and favorable clinical outcome compared to other types of AML. Intracranial masses can occur, usually in the setting of AML-M4Eo with inv (16).
Acute myelomonocytic leukemia
adenylate kinase 7
thorase
ATPase family, AAA domain containing 1
CT42
cancer/testis antigen 42
testis expressed 15, meiosis and synapsis associated
PIR121
p53 inducible protein
cytoplasmic FMR1 interacting protein 2
R-spondin 2
REG receptor
REGR
botv
glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase
exostosin like glycosyltransferase 3
LUCA2
LuCa-2
PH-20 homolog
lysosomal hyaluronidase
hyaluronidase 2
BLAP18
RecQ mediated genome instability 2
J domain protein 1
JDP1
DnaJ heat shock protein family (Hsp40) member C12
DRE1
kelch like family member 24
RNA, U12 small nuclear 1
RNU12-1
RNA, U12 small nuclear
GID complex subunit 7 homolog (S. cerevisiae)
GID7
WD repeat domain 26
AMKL
AML M7
Acute megakaryocytic leukemia
Acute myeloid leukemia M7
Acute megakaryoblastic leukemia (AMKL) is a form of acute myeloid leukemia (AML; see this term) that occurs predominantly in childhood and particularly in children with Down syndrome (DS-AMKL). Nonspecific symptoms may be irritability, weakness, and dizziness while specific symptoms include pallor, fever, mucocutaneous bleeding, hepatosplenomegaly, neurological manifestations and rarely lymphadenopathy. Acute panmyelosis with myelofibrosis (see this term)may also be associated with AMKL. In contrast to DS-AMKL (around 80 % survival), non-DS-AMKL is an AML subgroup associated with poor prognosis.
Acute megakaryoblastic leukemia
FAP69
flagellar protein 69 homolog (Chlamydomonas)
hypothetical protein FLJ21062
cilia and flagella associated protein 69
ACNES
Intercostal nerve syndrome
Rectus abdominis syndrome
Anterior cutaneous nerve entrapment syndrome (ACNES) is a chronic neuropathic pain syndrome of the abdominal wall caused by entrapment of anterior cutaneous branches of 7 to 12th intercostal nerves along the lateral border of the anterior rectus abdominis fascia causing severe pain and tenderness of the involved dermatome.
Anterior cutaneous nerve entrapment syndrome
AML
Acute myelogenous leukemia
Acute myeloid leukemia (AML) is a group of neoplasms arising from precursor cells committed to the myeloid cell-line differentiation. All of them are characterized by clonal expansion of myeloid blasts. AML manifests by fever, pallor, anemia, hemorrhages and recurrent infections.
Acute myeloid leukemia
Inflammatory/autoimmune disorder involving the lacrimal system
Rare disorder of the ocular adnexa
Rare disorder with ectropion
Rare disorder with entropion
Structural developmental eye defect
Syndromic lacrimal system disorder
Anterior segment developmental abnormality with extraocular manifestations
Infective keratitis
Rare conjunctivitis
Rare corneal disorder
Rare disorder of the anterior segment of the eye
Rare disorder of the pupil
Rare disorder with corneal involvement as a major feature
Rare inflammatory/autoimmune corneal disorder
Syndromic ectopia lentis
Syndromic microspherophakia
Rare disorder with pigmented sclera
Rare scleral disorder
Isolated chorioretinal dystrophy
Isolated macular dystrophy
Isolated vitreoretinopathy
Isolated progressive inherited retinal disorder
Rare choroidal disorder
Rare disorder of the posterior segment of the eye
Rare macular disorder
Rare retinal disorder
Rare retinal vasculopathy
Isolated stationary inherited retinal disorder
Syndromic chorioretinal dystrophy
Syndromic macular dystrophy
Syndromic retinal dystrophy
Syndromic inherited retinal disorder
Syndromic vitreoretinopathy
Rare disorder involving multiple structures of the eye
Secondary early-onset glaucoma
Congenital optic disc excavation
use http://www.orpha.net/ORDO/Orphanet_499047 with label: Autoimmune/inflammatory optic neuropathy
OBSOLETE: Inflammatory/autoimmune optic neuropathy
Disorder with optic nerve compression
Pseudopapilledema
Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature
Rare ophthalmic disorder with cortical involvement
Rare disorder with optic disc malformation
Rare neuromuscular disorder with ocular motility/alignment anomaly
Rare ophthalmic disorder with cranial nerve involvement
Rare optic nerve disorder
Rare trochlear nerve disorder
Rare ocular motility/alignment disorder
Isolated congenital entropion
Autosomal recessive anterior segment dysgenesis
Isolated blepharochalasis
Isolated iridoschisis
Isolated microspherophakia
Isolated foveal hypoplasia
Peripapillary staphyloma
Isolated megalopapilla
Optic disc pit
Thygeson superficial punctate keratopathy
Mooren ulcer
Terrien marginal degeneration
Fungal keratitis
Alagille-Watson syndrome
Arteriohepatic dysplasia
Syndromic bile duct paucity
Alagille (AGS) syndrome is variably characterized by chronic cholestasis due to paucity of intrahepatic bile ducts, peripheral pulmonary artery stenosis, vertebrae segmentation anomalies, characteristic facies, posterior embryotoxon/anterior segment abnormalities, pigmentary retinopathy, and dysplastic kidneys.
Alagille syndrome
AML M3
AML with t(15;17)(q22;q12);(PML/RARalpha) and variants
APML
Acute myeloblastic leukemia 3
Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants
Acute promyelocytic leukemia (APL) is an aggressive form of acute myeloid leukemia (AML; see this term), characterized by arrest of leukocyte differentiation at the promyelocyte stage, due to a specific chromosomal translocation t(15;17) in myeloid cells. APL manifests with easy bruising, hemorrhagic diathesis and fatigue.
Acute promyelocytic leukemia
11p11.2 deletion
Proximal 11p deletion syndrome
Potocki-Shaffer syndrome is characterized by multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. To date, 23 individuals from 14 families have been reported. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2).
Potocki-Shaffer syndrome
Vater-like syndrome with pulmonary hypertension, abnormal ears and growth deficiency
Braddock syndrome is a rare malformation syndrome with multiple congenital abnormalities, described in 2 siblings, that is characterized by VACTERL -like association in combination with pulmonary hypertension, laryngeal webs, blue sclerae, abnormal ears, persistent growth deficiency and normal intellect.
Braddock syndrome
Longman-Tolmie syndrome
Craniosynostosis-intracranial calcifications syndrome is a form of syndromic craniosynostosis characterized by pancraniosynostosis, head circumference below the mid-parental head circumference, mild facial dysmorphism (prominent supraorbital ridges, mild proptosis and maxillary hypoplasia) and calcification of the basal ganglia. The disease is associated with a favorable neurological outcome, normal intelligence and is inherited in an autosomal recessive manner.
Craniosynostosis-intracranial calcifications syndrome
Graham-Cox syndrome
Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome is a developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism (high forehead, microretrognathia, low-set ears), intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature.
Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
Morava-Mehes syndrome
Ulnar/fibula ray defect - brachydactyly syndrome is a very rare malformation syndrome characterized by ulnar hypoplasia associated with hypoplastic to absent fourth and/or fifth digits, fibular hypoplasia, short stature and facial dysmorphism.
Ulnar/fibula ray defect-brachydactyly syndrome
Hcam3
phosphodiesterase 1C
bHLHe76
aryl hydrocarbon receptor
KAP1
PPP1R157
RNF96
TF1B
TIF1B
protein phosphatase 1, regulatory subunit 157
tripartite motif containing 28
phosphopantothenoylcysteine synthetase
Rare disorder of the visual organs
Isolated inherited retinal disorder
Progressive external ophthalmoplegia
PM/Scl-75
RRP45
Rrp45p
polymyositis/scleroderma autoantigen 1 (75kD)
exosome component 9
Chronic granulocytic leukemia
Chronic myelogenous leukemia
Chronic myeloid leukaemia (CML) is the most common myeloproliferative disorder accounting for 15-20% of all leukaemia cases.
Chronic myeloid leukemia
Radiation-induced plexopathy
Osteoradionecrosis of the mandible
Radiation-induced disorder
Mirizzi syndrome
Genetic primary orthostatic disorder
Primary orthostatic disorder
Dup(X)(q25)
Xq25 microtriplication
Xq25 microduplication syndrome
Proximal myopathy with focal depletion of mitochondria
Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome
SINO syndrome
Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome
Dystonia-parkinsonism-hypermanganesemia syndrome
Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism deffect
ATP1A1-related CMT2
ATP1A1-related autosomal dominant Charcot-Marie-Tooth disease type 2
CMT2DD
Autosomal dominant Charcot-Marie-Tooth disease type 2DD
PLAAND
PLAA-associated neurodevelopmental disorder
Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome
Congenital NAD deficiency disorder
Congenital vertebral-cardiac-renal anomalies syndrome
Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
LAMA5-related multisystemic syndrome
ZGRF7
zinc finger, GRF-type containing 7
DNA topoisomerase III alpha
sterile alpha motif domain containing 12
SKAP
TRAF4 associated factor 1
TRAF4AF1
kinastrin
kinetochore-localized astrin-binding protein
small kinetochore-associated protein
kinetochore localized astrin (SPAG5) binding protein
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_2512 with label: Autosomal recessive primary microcephaly
Premature chromosome condensation with microcephaly and intellectual disability
CalDAG-GEFII
RASGRP
calcium- and diacylglycerol-regulated guanine nucleotide exchange factor II
RAS guanyl releasing protein 1
Primary autoimmune enteropathy
Syndromic autoimmune enteropathy
SYT1-related neurodevelopmental disorder
Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
Rare genetic disorder of the visual organs
Rare genetic brainstem or cerebellar disorder with ophthalmic involvement as a major feature
Rare genetic ophthalmic disorder with cortical involvement
Rare genetic ophthalmic disorder with cranial nerve involvement
Rare genetic optic nerve disorder
Congenital optic disc excavation of genetic origin
Rare genetic ocular motility/alignment disorder
Rare genetic disorder with strabismus
Syndromic genetic disorder with strabismus
Rare genetic neuromuscular disorder with ocular motility/alignment anomaly
Rare genetic disorder of the ocular adnexa
Rare genetic palpebral disorder
Rare genetic eyelid malposition disorder
Rare genetic disorder with entropion
Rare genetic disorder of the lacrimal apparatus
Lacrimal drainage system anomaly of genetic origin
Structural developmental eye defect of genetic origin
Rare genetic disorder of the anterior segment of the eye
Anterior segment developmental anomaly of genetic origin
Rare genetic disorder with conjunctival involvement as a major feature
Rare genetic conjunctivitis
Rare genetic disorder with lens opacification
Syndromic genetic cataract
Lens size anomaly of genetic origin
Lens position anomaly of genetic origin
Syndromic genetic ectopia lentis
Rare genetic corneal disorder
Rare genetic disorder with corneal involvement as a major feature
Genetic corneal dystrophy
Genetic superficial corneal dystrophy
Syndromic genetic keratoconus
Rare genetic inflammatory/autoimmune corneal disorder
Rare genetic disorder of the pupil
Rare genetic disorder of the posterior segment of the eye
Rare genetic retinal disorder
Rare genetic macular disorder
Rare genetic retinal vasculopathy
Rare genetic disorder involving multiple structures of the eye
Secondary early-onset glaucoma of genetic origin
Rare genetic choroidal disorder
Familial leiomyomatosis and renal cell cancer
Familial leiomyomatosis cutis et uteri
Familial leiomyomatosis with renal carcinoma
Familial multiple cutaneous leiomyomas
HLRCC
Hereditary leiomyomatosis
Hereditary leiomyomatosis with renal carcinoma
Hereditary multiple cutaneous leiomyomas
MCUL
Multiple cutaneous and uterine leiomyomas
Reed syndrome
Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a hereditary cancer syndrome characterized by a predisposition to cutaneous and uterine leiomyomas and, in some families, to renal cell cancer.
Hereditary leiomyomatosis and renal cell cancer
Pediatric-onset glaucoma
DDON syndrome
Deafness-dystonia-optic neuronopathy syndrome
Mohr-Tranebjaerg syndrome (MTS) is an X-linked recessive neurodegenerative syndrome characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th decade onwards.
Mohr-Tranebjaerg syndrome
Li-Fraumeni syndrome (LFS) is a rare cancer predisposition syndrome characterized by the early-onset of multiple primary cancers such as breast cancer, soft tissue and bone sarcomas (see these terms), brain tumors and adrenal cortical carcinoma (ACC) (see this term).
LCM
MCL
Mantle zone lymphoma
Mantle cell lymphoma is a rare form of malignant non-Hodgkin lymphoma (see this term) affecting B lymphocytes in the lymph nodes in a region called the ``mantle zone''.
Mantle cell lymphoma
Extranodal marginal zone B-cell lymphoma
MALToma
Mucosa-associated lymphatic tissue lymphoma
Mucosa-associated lymphoid tissue lymphoma
MALT (mucosa-associated lymphoid tissue) lymphoma is a rare form of malignant non-Hodgkin lymphoma (see this term) that affects B cells and grows at the expense of lymphoid tissue associated with mucous membranes, but also occurs, more rarely, in lymph nodes.
MALT lymphoma
ADP ribosylation factor like GTPase 6 interacting protein 6
Retinitis punctata albescens
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_370953 with label: Congenital muscular dystrophy due to dystroglycanopathy
Branchiootic syndrome is a rare, genetic multiple congenital anomalies syndrome characterized by second branchial arch anomalies (branchial cysts and fistulae), malformations of the outer, middle and inner ear associated with sensorineural, mixed or conductive hearing loss, and the absence of renal abnormalities. Typical ear findings consist of malformed auricles (e.g. lop or cupped ears), preauricular pits and/or tags, and middle and/or inner ear dysplasias (inculding cochlear, vestibular and semicircular channel hypoplasia, malformation of the ossicles and of middle ear space).
Branchiootic syndrome
Limb-girdle muscular dystrophy with Paget disease of bone
Pagetoid amyotrophic lateral sclerosis
Pagetoid neuroskeletal syndrome
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia (IBMPFD) is a multisystem degenerative genetic disorder characterized by adult-onset proximal and distal muscle weakness (clinically resembling limb-girdle muscular dystrophy; see this term); early-onset Paget disease of bone (see this term), manifesting with bone pain, deformity and enlargement of the long-bones; and premature frontotemporal dementia (see this term), manifesting first with dysnomia, dyscalculia and comprehension deficits followed by progressive aphasia, alexia, and agraphia. As the disease progresses, muscle weakness begins to affect the other limbs and respiratory muscles, ultimately resulting in respiratory or cardiac failure.
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Follicular lichen planus
Lichen follicularis
Lichen planus follicularis
Lichen planopilaris (LPP) is a rare cutaneous variant of lichen planus (see this term) which affects hair follicles. It may occur on its own or in association with more common forms of lichen planus, usually classical type and/or oral lichen planus.
Lichen planopilaris
Creatine transporter deficiency
SLC6A8 deficiency
X-linked creatine transporter deficiency (CRTR-D) is a creatine deficiency syndrome characterized clinically by global developmental delay/ intellectual disability (DD/ID) with prominent speech/language delay, autistic behavior and seizures.
X-linked creatine transporter deficiency
Rabenosyn-5
rabenosyn, RAB effector
KIAA1521
GTPase activating protein and VPS9 domains 1
ANKHZN
BTBD23
KIAA1255
RANK-5
ZFYVE14
rabankyrin-5
ankyrin repeat and FYVE domain containing 1
PT-VWD
Platelet type-von Willebrand disease
Pseudo-von Willebrand disease type 2B
Platelet type Von Willebrand disease (PT-VWD) is a bleeding disorder characterized by mild to moderate mucocutaneous bleeding, which becomes more pronounced during pregnancy or following ingestion of drugs that have anti-platelet activity. PT-VWD is due to hyperresponsive platelets, resulting in thrombocytopenia.
Pseudo-von Willebrand disease
MAP5
PPP1R102
protein phosphatase 1, regulatory subunit 102
microtubule associated protein 1B
FELS
PV-1
PV1
fenestrated-endothelial linked structure protein; PV-1 protein
gp68
plasmalemma vesicle associated protein
Genetic congenital malformation of the eye with glaucoma as a major feature
Pediatric-onset Basedow disease
Pediatric-onset Graves disease
Prepubertal anorexia nervosa
Pseudoaldosteronism
Pseudohyperaldosteronism type 1
Liddle syndrome is a rare inherited form of hypertension characterized by severe early-onset hypertension associated with decreased plasmatic levels of potassium, renin and aldosterone.
Acquired embryofetopathy
Rare teratologic disease
Myelodysplastic syndrome
Encephalopathy due to mitochondrial and peroxisomal fission defect
Systemic vasculitis
Vasculitis represents a clinically heterogenous group of diseases of multifactorial etiology characterized by inflammation of either large-sized vessels (large-vessel vasculitis, e.g. Giant-cell arteritis and Takayasu arteritis; see these terms), medium-sized vessels (medium-vessel vasculitis e.g. polyarteritis nodosa and Kawasaki disease; see these terms), or small-sized vessels (small-vessel vasculitis, e.g. granulomatosis with polyangiitis, microscopic polyangiitis, immunoglobulin A vasculitis, and cutaneous leukocytoclastic angiitis; see these terms). Vasculitis occurs at any age, may be acute or chronic, and manifests with general symptoms such as fever, weight loss and fatigue, as well as more specific clinical signs depending on the type of vessels and organs affected. The degree of severity is variable, ranging from life or sight threatening disease (e.g. Behçet disease, see this term) to relatively minor skin disease.
Vasculitis
BSCL
Beradinelli-Seip syndrome
Brunzell syndrome
GCL
Generalized congenital lipodystrophy
Lipoatrophic diabetes
Berardinelli-Seip congenital lipodystrophy (BSCL) is characterized by the association of lipoatrophy, hypertriglyceridemia, hepatomegaly and acromegaloid features. BSCL belongs to the group of extreme insulin resistance syndromes, which also includes leprechaunism, Rabson-Mendenhall syndrome, acquired generalized lipodystrophy, and types A and B insulin resistance (see these terms).
Berardinelli-Seip congenital lipodystrophy
Roch-Leri mesosomatous lipomatosis is a rare benign autosomal dominant disorder of fat tissue proliferation characterized by the presence of multiple small lipomas of 2 to 5 cm in diameter in the middle third of the body (i.e. the forearms, trunk, and upper thighs), and which are generally painless and can be easily removed by local anesthesia, provided that they are not too numerous or confluent. There have been no further descriptions in the literature since 1984.
Roch-Leri mesosomatous lipomatosis
Isolated FSH deficiency
Isolated follicle stimulating hormone deficiency
Orbital leiomyoma is a rare benign smooth muscle tumor arising from the walls of orbital vessels characterized by its slow growth and well encapsulated nature. It is usually located in an extraconal position, commonly manifesting with painless proptosis. The tumor is composed of spindle cells arranged in a fibrous stroma rich in dilated sinusoidal capillaries. The nuclei of tumor cells are oval with blunted ends and there are no mitotic figures. Orbital leiomyoma when excised has excellent prognosis for vision and life. One case of orbital leiomyosarcoma that possibly represents sarcomatous change in an orbital leiomyoma following radiation treatment has been reported.
Orbital leiomyoma
Osteopetrosis autosomal dominant type 2
Albers-Schönberg osteopetrosis is a sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates).
Albers-Schönberg osteopetrosis
Hyalinosis cutis et mucosae
Urbach-Wiethe disease
Lipoid proteinosis (LP) is a rare genodermatosis characterized clinically by mucocutaneous lesions, hoarseness developing in early childhood and, at times, neurological complications.
Lipoid proteinosis
Caroli disease (CD) is a rare congenital liver disease characterized by non-obstructive cystic dilatations of the intra-hepatic and rarely extra-hepatic bile ducts.
Caroli disease
Lissencephaly due to 17p13.3 deletion
Monosomy 17p13.3
Telomeric deletion 17p
Miller-Dieker Syndrome (MDS) is a contiguous gene deletion syndrome of chromosome 17p13.3, characterised by classical lissencephaly (lissencephaly type 1) and distinct facial features. Additional congenital malformations can be part of the condition.
Miller-Dieker syndrome
Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay.
Muenke syndrome
Familial cutaneous collagenoma is a connective tissue nevus characterized by multiple, flesh-colored asymptomatic nodules distributed symmetrically on the trunk and upper arms (mainly on the upper two-thirds of the back), manifesting around adolescence. The skin biopsy reveals an accumulation of collagen fibers with reduction in the number of elastic fibers. Cardiac anomalies may be observed. Familial cutaneous collagenoma follows an autosomal dominant mode of transmission.
Familial cutaneous collagenoma
Listeria infection
Listeriosis
Brody myopathy
DYT3
Lubag
Lubag syndrome
XDP
X-linked dystonia-parkinsonism (XDP) is a neurodegenerative movement disorder characterized by adult-onset parkinsonism that is frequently accompanied by focal dystonia, which becomes generalized over time, and that has a highly variable clinical course.
X-linked dystonia-parkinsonism
Familial trembling of the chin
Hereditary chin myoclonus
Hereditary chin-trembling
Hereditary geniospasm is a movement disorder characterized by episodes of involuntary tremor of the chin and lower lip.
Hereditary geniospasm
Lowe disease
Lowe oculo-cerebro-renal syndrome
Lowe syndrome
OCR
OCRL
Oculo-cerebro-renal dystrophy
Oculo-cerebro-renal syndrome
Oculocerebrorenal dystrophy
Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency
Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, postnatal growth retardation and renal tubular dysfunction with chronic renal failure.
Oculocerebrorenal syndrome of Lowe
Rare cutaneous lupus erythematosus (CLE) is an autoimmune disease that denotes a heterogeneous spectrum of clinical manifestations affecting the skin and can be divided into 4 categories: acute CLE (ACLE); subacute CLE (SCLE); chronic CLE (CCLE; the most diverse form); and intermittent CLE (ICLE). CLE can either occur alone or associated with systemic lupus erythematosus (SLE).
Rare cutaneous lupus erythematosus
Enhanced S-cone syndrome
Retinoschisis with early nyctalopia
Goldmann-Favre syndrome (GFS) is a vitreoretinal dystrophy characterized by early onset of night blindness, reduced bilateral visual acuity, and typical fundus findings (progressive pigmentary degenerative changes, macular edema, retinoschisis).
Goldmann-Favre syndrome
Episodic choreoathetosis/spasticity
Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity
Disseminated lupus erythematosus
SLE
Systemic lupus erythematosus
Congenital chloride diarrhea
Congenital lactase deficiency is a rare severe gastrointestinal disorder in newborns primarily reported in Finland and characterized clinically by watery diarrhea on feeding with breast-milk or lactose-containing formula.
Congenital lactase deficiency
Congenital cornea plana
Fellman disease
Growth delay-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome
Growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome
GRACILE syndrome is an inherited lethal mitochondrial disorder characterized by fetal growth restriction (GR), aminoaciduria (A), cholestasis (C), iron overload (I), lactacidosis (L), and early death (E).
LAAHD
Vuopala disease
Lethal arthrogryposis-anterior horn cell disease syndrome
GDD
Gnathodiaphyseal dysplasia (GDD) is a bone dysplasia characterized by bone fragility, frequent bone fractures at a young age, cemento-osseous lesions of the jaw bones, bowing of tubular bones (tibia and fibula) and diaphyseal sclerosis of long bones associated with generalized osteopenia. GD follows an autosomal dominant mode of transmission.
Gnathodiaphyseal dysplasia
Hyaline body myopathy
Lyell syndrome
Lyell syndrome is an extended form of toxic epidermal necrolysis (see this term) characterized by destruction and detachment of the skin epithelium and mucous membranes involving more than 30% of the body surface area.
Toxic epidermal necrolysis
Tumoral calcinosis is a phosphocalcic metabolism anomaly, particularly among younger age groups and characterized by the presence of calcified masses in the juxta-articular regions (hip, elbow, ankle and scapula) without joint involvement. Histologically, lesions display collagen necrobiosis, followed by cyst formation and a foreign-body response with calcification Two forms of tumoral calcinosis have been described: normocalcemic tumoral calcinosis and familial tumoral calcinosis.
Familial tumoral calcinosis
Bonnet-Dechaume-Blanc syndrome
CAMS2
Cerebrofacial arteriovenous metameric syndrome type 2
Wyburn-Mason syndrome or Bonnet-Dechaume-Blanc syndrome is characterized by the association of arteriovenous malformations of the maxilla, retina, optic nerve, thalamus, hypothalamus and cerebral cortex.
Wyburn-Mason syndrome
Cutaneomeningospinal angiomatosis
SAMS 1-31
Spinal arteriovenous metameric syndrome
Cobb syndrome is defined by the association of vascular cutaneous (venous or arteriovenous), muscular (arteriovenous), osseous (arteriovenous) and medullary (arteriovenous) lesions at the same metamere or spinal segment. This segmental distribution may involve one or many of the 31 metameres present in humans. Only 16% of the medullary lesions are multiple and have a clearly metameric distribution.
Cobb syndrome
Distal spinal muscular atrophy
dHMN
dSMA
Distal hereditary motor neuropathy
Lymphangioleiomyomatosis (LAM) is a multiple cystic lung disease characterized by progressive cystic destruction of the lung and lymphatic abnormalities, frequently associated with renal angiomyolipomas (AMLs). LAM occurs either sporadically or as a manifestation of tuberous sclerosis complex (TSC).
Lymphangioleiomyomatosis
OA1
Ocular albinism type 1
Ocular albinism, Nettleship-Falls type
XLOA
X-linked recessive ocular albinism (XLOA) is a rare disorder characterized by ocular hypopigmentation, foveal hypoplasia, nystagmus, photodysphoria, and reduced visual acuity in males.
X-linked recessive ocular albinism
Familial HLH
Familial Hemophagocytic lymphohistiocytosis (FHL) is a rare primary immunodeficiency characterized by a macrophage activation syndrome (see this term) with an onset usually occurring within a few months or less common several years after birth.
Familial hemophagocytic lymphohistiocytosis
Kelly-Paterson syndrome
Sideropenic dysphagia
Plummer-Vinson or Paterson-Kelly syndrome presents as a classical triad of dysphagia, iron-deficiency anemia and esophageal webs.
Plummer-Vinson syndrome
Moschcowitz disease
Thrombotic thrombocytopenic purpura (TTP) is an aggressive and life-threatening form of thrombotic microangiopathy (TMA; see this term) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and organ failure of variable severity and is comprised of congenital TTP and acquired TTP (see these terms).
Thrombotic thrombocytopenic purpura
Primary cutaneous Ki-1+ T-cell lymphoproliferative disease
Primary cutaneous CD30+ T-cell lymphoproliferative disease
Cutaneous lymphoma is a heterogeneous entity with respect to its clinical and pathological features, evolutive profile, prognosis, molecular aetiology and response to therapy. These specifications have been taken into account in recent classifications, which have placed particular importance on the prognostic implications of these different entities.
Primary cutaneous lymphoma
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_52430 with label: Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Benson syndrome
Biparietal Alzheimer disease
Posterior Cortical Atrophy (PCA) is a rare progressive neurodegenerative disorder with a typical onset between 50-65 years of age characterized by progressive impairment of higher visual processing skills and other posterior cortical functions without any evidence of ocular abnormalities.
Posterior cortical atrophy
Aseptic abscesses syndrome
Aseptic systemic abscesses
Disseminated aseptic abscesses
Corticosteroid-sensitive aseptic abscesses syndrome is a well-defined entity within the group of autoinflammatory disorders.
Corticosteroid-sensitive aseptic abscess syndrome
LVNC
Left ventricular hypertrabeculation
Spongy myocardium
Left ventricular noncompaction (LVNC) is a rare cardiomyopathy characterized anatomically by prominent left ventricular trabeculae and deep intratrabecular recesses causing progressive systolic and diastolic dysfunction, conduction abnormalities, and occasionally thromboembolic events.
Left ventricular noncompaction
Hepatocellular adenoma (HA) is a rare benign tumor of the liver.
Hepatocellular adenoma
Small non-cleaved cell lymphoma
Burkitt lymphoma is a rare form of malignant mature B-cell non-Hodgkin lymphoma.
Burkitt lymphoma
Sarcosporidiosis
Sarcocystosis
MPGN
Mesangiocapillary glomerulonephritis
Membranoproliferative glomerulonephritis (MPGN) is a chronic progressive kidney disorder characterized by glomerular capillary wall structural changes and mesangial cell proliferation leading to nephrotic syndrome, hypocomplementemia, hypertension, proteinuria and end-stage kidney disease. MPGN can be due to either idiopathic (type 1, 2 and 3 MPGN; see these terms) or secondary (associated with infectious and immune complex diseases) causes.
Primary membranoproliferative glomerulonephritis
DLBCL
Diffuse large B-cell lymphoma is the most common subtype of non-Hodgkin lymphoma (NHL; see this term) in adults characterized by a median age of presentation in the sixth decade of life (but also rarely occurring in adolescents and children) with the initial presentation being single or multiple rapidly growing masses (that may or may not be painful) in nodal or extranodal sites (such as thyroid, skin, breast, gastrointestinal tract, testes, bone, or brain) and that can be accompanied by symptoms of fever, night sweats and weight loss. DLBCL has an aggressive disease course, with the elderly having a poorer prognosis than younger patients, and with relapses being common.
Diffuse large B-cell lymphoma
Follicular lymphoma is a form of non-Hodgkin lymphoma (see this term) characterized by a proliferation of B cells whose nodular structure of follicular architecture is preserved.
Follicular lymphoma
Craniopharyngiomas are benign slow growing tumours that are located within the sellar and parasellar regions of the central nervous system.
Craniopharyngioma
Non-Hodgkin malignant lymphomas(NHL) is a heterogeneous group of malignant tumors of the lymphoid system.
Non-Hodgkin lymphoma
Leprosy is a chronic infectious disease affecting primarily the skin and peripheral nervous system.
Leprosy
Legionnaires disease
Legionellosis or Legionnaires' disease (LD) is a bacterial lung infection characterized by a potentially fatal pneumonia.
Legionellosis
OCA
Oculocutaneous albinism (OCA) describes a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes and variable ocular findings including nystagmus, reduced visual acuity and photophobia. Variants include OCA1A (the most severe form), OCA1B, OCA1-minimal pigment (OCA1-MP), OCA1-temperature sensitive (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6 and OCA7.
Oculocutaneous albinism
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations.
MELAS
Fukuhara syndrome
Myoclonus epilepsy associated with ragged-red fibres
MERRF (Myoclonic Epilepsy with Ragged Red Fibers) syndrome is a mitochondrial encephalomyopathy characterized by myoclonic seizures.
MERRF
Maturity-onset diabetes of the young
MODY (maturity-onset diabetes of the young) is a rare, familial, clinically and genetically heterogeneous form of diabetes characterized by young age of onset (generally 10-45 years of age) with maintenance of endogenous insulin production, lack of pancreatic beta-cell autoimmunity, absence of obesity and insulin resistance and extra-pancreatic manifestations in some subtypes.
MODY
Cushing's syndrome
Hyperadrenocorticism
Hypercortisolism
Cushing's syndrome (CS) encompasses a group of hormonal disorders caused by prolonged and high exposure levels to glucocorticoids that can be of either endogenous (adrenal cortex production) or exogenous (iatrogenic) origin.
Cushing syndrome
LGMD1F
Autosomal dominant limb-girdle muscular dystrophy type 1F (LGMD1F) is a subtype of autosomal dominant limb-girdle muscular dystrophy ,with a variable age of onset, characterized by progressive, proximal weakness and wasting of the shoulder and pelvic musculature (with the pelvic girdle, and especially the ileopsoas muscle, being more affected) and frequent association of calf hypertrophy, dysphagia, arachnodactyly with or without finger contractures and/or distal and axial muscle involvement. Additional features include an abnormal gait, exercise intolerance, myalgia, fatigue and respiratory insufficiency. Cardiac conduction defects are typically not observed.
Autosomal dominant limb-girdle muscular dystrophy type 1F
LGMD1G
Autosomal dominant limb-girdle muscular dystrophy type 1G (LGMD1G) is a mild subtype of autosomal dominant limb-girdle muscular dystrophy characterized by a typically adult onset of mild, progressive, proximal weakness of pelvic and shoulder girdle muscles and progressive, permanent finger and toes flexion limitation without flexion contractures. Normal to highly elevated creatine kinase serum levels are observed.
Autosomal dominant limb-girdle muscular dystrophy type 1G
Malakoplakia is a chronic multisystem granulomatous inflammatory disease characterized by the presence of single or multiple soft plaques on various organs of the body.
Malakoplakia
Hereditary hypotrichosis simplex
Hypotrichosis simplex (HS) or hereditary hypotrichosis simplex (HHS) is characterized by reduced pilosity over the scalp and body (with sparse, thin, and short hair) in the absence of other anomalies.
Hypotrichosis simplex
Pneumococcal meningitis
Anorectal malformations (ARM) comprise a wide spectrum of malformations involving the distal anus and rectum as well as the urinary and genital tracts, which can affect boys and girls.
Isolated anorectal malformation
MFS
Marfan syndrome is a systemic disease of connective tissue characterized by a variable combination of cardiovascular, musculo-skeletal, ophthalmic and pulmonary manifestations.
Chondrosarcoma is a malignant bone tumor arising from cartilaginous tissue, most frequently occuring at the ends of the femur and tibia, the proximal end of the humerus and the pelvis; and presenting with a palpable mass and progressive pain. Chondrosarcoma is usually slow growing at low histological grades and can be well managed by intralesional curettage or en-block wide resection.
Chondrosarcoma
Adamantinoma of long bones
Adamantinoma (AD) is a primary low-grade malignant bone tumor that occurs in more than 80% of cases on the anterior surface of the tibia (tibial dyaphysis). Most ADs are symptomatic or present with pain, swelling, bowing deformity or pathological fracture. Metastases especially in the lungs may be observed.
Adamantinoma
Marinesco-Sjögren syndrome (MSS) belongs to the group of autosomal recessive cerebellar ataxias. Cardinal features of MSS are cerebellar ataxia, congenital cataract, and delayed psychomotor development.
Marinesco-Sjögren syndrome
Hereditary ochronosis
Homogentisic acid oxidase deficiency
Alkaptonuria is a metabolic disease characterized by the accumulation of homogentisic acid (HGA) and its oxidized product, benzoquinone acetic acid (BQA), in various tissues (e.g. cartilage, connective tissue) and body fluids (urine, sweat), causing urine to darken when exposed to air as well as grey-blue coloration of the sclera and ear helix (ochronosis), and a disabling joint disease involving both the axial and peripheral joints (ochronotic arthropathy).
Alkaptonuria
Marshall syndrome is a malformation syndrome that is characterized by facial dysmorphism, severe hypoplasia of the nasal bones and frontal sinuses, ocular involvement, early-onset hearing loss, skeletal and anhidrotic ectodermal anomalies and short stature with spondyloepiphyseal dysplasia and early-onset osteoarthritis.
Marshall syndrome
Carcinoma of gallbladder and EBT
Carcinoma of the gallbladder (GBC) is the most common and aggressive form of biliary tract cancer (BTC; see this term) usually arising in the fundus of the gallbladder, rapidly metastasizing to lymph nodes and distant sites.
Carcinoma of gallbladder and extrahepatic biliary tract
Accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome
Marshall-Smith syndrome is a rare genetic disease characterized by tall stature and advanced bone age at birth.
Marshall-Smith syndrome
Gonadotropin-independent female-limited sexual precocity
McCune-Albright syndrome (MAS) is classically defined by the clinical triad of fibrous dysplasia of bone (FD), café-au-lait skin spots, and precocious puberty (PP).
McCune-Albright syndrome
Postpartum cardiomyopathy
Peripartum cardiomyopathy (PPCM) is an idiopathic, potentially fatal form of dilated cardiomyopathy that develops during the final month of pregnancy or within five months after delivery.
Peripartum cardiomyopathy
AO2
AOII
Atelosteogenesis type 2
De la Chapelle dysplasia
Neonatal osseous dysplasia type 1
Atelosteogenesis II is a lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene.
Atelosteogenesis type II
AO3
AOIII
Atelosteogenesis type 3
Atelosteogenesis III (AOIII) is a skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.
Atelosteogenesis type III
Meckel-Gruber syndrome
Meckel syndrome (MKS) is a rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation (mainly occipital encephalocele), large polycystic kidneys, and polydactyly, as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia.
Meckel syndrome
CAD
Chronic cold agglutinin disease
Cold agglutinin syndrome
Cold agglutinin disease is a type of autoimmune hemolytic anemia (see this term) defined by the presence of cold autoantibodies (autoantibodies which are active at temperatures below 30°C).
Cold agglutinin disease
Kinky hair disease
Kinky hair syndrome
MNK
Menkes syndrome
Steely hair disease
Steely hair syndrome
Trichopoliodystrophy
X-linked copper deficiency
Menkes disease (MD) is a usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair.
Menkes disease
Congenital miosis
2 mm in diameter) from birth, peripheral iris hypopigmentation and transillumination defects leading to errors of refraction (myopia, astigmatism) and sometimes juvenile open angle glaucoma.
Congenital microcoria
22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome
22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.
22q11.2 deletion syndrome
Lenz microphthalmia
Lenz microphthalmia syndrome is a very rare X-linked inherited form of syndromic microphthalmia (see this term) characterized by unilateral or bilateral microphthalmia (and/or clinical anophthalmia) with or without coloboma in addition to a range of extraocular manifestations such as microcephaly, malformed ears, dental abnormalities (i.e. irregular shape of incisors), skeletal anomalies (duplicated thumbs, syndactyly, clinodactyly, camptodactyly (see these terms)), urogenital anomalies (hypospadias, cryptorchidism, renal dysgenesis, hydroureter) and mild to severe intellectual disability. It is allelic to two disorders: oculofaciocardiodental syndrome and premature aging appearance-developmental delay-cardiac arrhythmia syndrome (see these terms).
Microphthalmia, Lenz type
Hemiplegic migraine (HM) is a rare variety of migraine with aura characterized by the presence of a motor weakness during the aura. Hemiplegic migraine has two main forms depending on the familial history: patients with at least one first- or second-degree relative who has aura including motor weakness have familial hemiplegic migraine (FHM); patients without such familial history have sporadic hemiplegic migraine (SHM).
Familial or sporadic hemiplegic migraine
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_97229 with label: Riboflavin transporter deficiency
Progressive bulbar paralysis of childhood
TSE
Transmissible spongiform encephalopathy
5%) include iatrogenic CJD and variant CJD (vCDJ).
Human prion disease
GSD due to aldolase A deficiency
GSD type 12
GSD type XII
Glycogen storage disease type 12
Glycogen storage disease type XII
Glycogenosis due to aldolase A deficiency
Glycogenosis type 12
Glycogenosis type XII
Glycogen storage disease due to aldolase A deficiency is an extremely rare glycogen storage disease (see this term) characterized by hemolytic anemia with or without myopathy or intellectual deficit. Myopathy can be severe enough to result in fatal rhabdomyolysis in some patients. A family with episodic rhabdomyolysis (triggerd by fever) without hemolytic anemia has recently been reported.
Glycogen storage disease due to aldolase A deficiency
Congenital facial diplegia
Möbius syndrome
Moebius syndrome is a very rare congenital cranial dysinnervation disorder characterized by complete or incomplete facial paralysis in association with bilateral palsy of the abducens nerve causing impairment of ocular abduction. The syndrome also includes various other congenital anomalies.
Moebius syndrome
Short-lasting unilateral neuralgiform headache attacks with conjunctival injection and tearing
SUNCT syndrome (Short-lasting Unilateral Neuralgiform headache attacks with Conjunctival injection and Tearing) is a primary headache disorder characterized by unilateral trigeminal pain that occurs in association with ipsilateral cranial autonomic symptoms (conjunctival injection and tearing).
SUNCT syndrome
Rare hepatic disease
Osteitis condensans of the clavicle
Medial condensing osteitis of the clavicle
Bare lymphocyte syndrome type 2
HLA class 2-negative SCID
HLA class 2-negative severe combined immunodeficiency
MHC class II expression deficiency
Major histocompatibility complex class II expression deficiency
Immunodeficiency by defective expression of HLA class 2 is a rare primary genetic immunodeficiency disorder characterized by partial or complete absence of human leukocyte antigen class 2 expression resulting in severe defect in both cellular and humoral immune response to antigens. The disorder presents clinically as marked susceptibility to infections, severe malabsorption and failure to thrive and is often fatal in early childhood.
Immunodeficiency by defective expression of HLA class 2
Moniliform hair syndrome
Monilethrix is a rare genodermatosis characterized by a hair shaft dysplasia resulting in hypotrichosis.
Monilethrix
21q deletion syndrome
21q- syndrome
Partial 21q monosomy
Monosomy 21 is a chromosomal anomaly characterized by the loss of variable portions of a segment of the long arm of chromosome 21 that leads to an increased risk of birth defects, developmental delay and intellectual deficit.
Monosomy 21
Neutrophilic urticaria
Muckle-Wells syndrome (MWS) is an intermediate form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent fever (with malaise and chills), recurrent urticaria-like skin rash, sensorineural deafness, general signs of inflammation (eye redness, headaches, arthralgia/myalgia) and potentially life-threatening secondary amyloidosis (AA type).
Muckle-Wells syndrome
I-cell disease
Mucolipidosis type II alpha/beta
N-acetylglucosamine 1-phosphotransferase deficiency
Mucolipidosis II (MLII) is a slowly progressive lysosomal disorder characterized by growth retardation, skeletal abnormalities, facial dysmorphism, stiff skin, developmental delay and cardiomegaly.
Mucolipidosis type II
Pseudo-Hurler polydystrophy
Mucolipidosis type III
Cirrhotic cardiomyopathy is the term used to describe a constellation of features indicative of abnormal heart structure and function in patients with cirrhosis. These include systolic and diastolic dysfunction, electrophysiological changes, and macroscopic and microscopic structural changes.
Cirrhotic cardiomyopathy
Myxoma with fibrous dysplasia
Mazabraud syndrome is a rare primary bone dysplasia (see this term) characterized by the association of fibrous dysplasia with intramuscular myxomas. Fibrous dysplasia (usually polyostotic, sometimes monostotic) occurs during the growth period and can be asymptomatic or can present with pain, skeletal deformities or fractures while intramuscular myxoma, associated with polyostotic fibrous dysplasia (see this term) is usually multifocal, typically occuring in the vicinity of skeletal lesions, and presents in adulthood as a painless soft-tissue mass (most commonly in the thigh). Although it is a benign condition, local recurrences of myxomas after incomplete excision and malignant transformation of a fibrous dysplastic lesion into osteogenic sarcoma have been reported.
Mazabraud syndrome
Mucolipidosis type IV (ML IV) is a lysosomal storage disease characterised clinically by psychomotor retardation and visual abnormalities including corneal clouding, retinal degeneration, or strabismus.
Mucolipidosis type IV
Alpha-L-iduronidase deficiency
Mucopolysaccharidosis type I
Mucopolysaccharidosis type 1 (MPS 1) is a rare lysosomal storage disease belonging to the group of mucopolysaccharidoses. There are three variants, differing widely in their severity, with Hurler syndrome being the most severe, Scheie syndrome the mildest and Hurler-Scheie syndrome giving an intermediate phenotype.
Mucopolysaccharidosis type 1
AxD
Alexander disease (AxD) is a rare neurodegenerative disorder of the astrocytes comprised of two clinical forms: AxD Type I and Type II (see these terms) manifesting with various degrees of macrocephaly, spasticity, ataxia and seizures and leading to psychomotor regression and death.
Alexander disease
Iduronate 2-sulfatase deficiency
MPS2
MPSII
Mucopolysaccharidosis type II
Mucopolysaccharidosis type 2 (MPS2) is a lysosomal storage disease leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe to an attenuated form without neuronal involvement.
Mucopolysaccharidosis type 2
HCL-C
Leukemic reticuloendotheliosis
Hairy cell leukemia (HCL) is a rare type of leukemia in which abnormal B-lymphocytes are present in the bone marrow, spleen and peripheral blood. It is a slowly progressive chronic lymphocytic leukemia (CLL). The name comes from the abnormally shaped lymphocytes with hair-like projections.
Classic hairy cell leukemia
Osteoblastoma
MPS3
MPSIII
Mucopolysaccharidosis type III
Sanfilippo disease
Mucopolysaccharidosis type III (MPS III) is a lysosomal storage disease belonging to the group of mucopolysaccharidoses and characterised by severe and rapid intellectual deterioration.
Mucopolysaccharidosis type 3
MPS4
MPSIV
Morquio disease
Mucopolysaccharidosis type IV
Mucopolysaccharidosis type IV (MPS IV) is a lysosomal storage disease belonging to the group of mucopolysaccharidoses, and characterised by spondylo-epiphyso-metaphyseal dysplasia. It exists in two forms, A and B.
Mucopolysaccharidosis type 4
ARSB deficiency
ASB deficiency
Arylsulfatase B deficiency
MPS6
MPSVI
Maroteaux-Lamy disease
Mucopolysaccharidosis type VI
N-acetylgalactosamine 4-sulfatase deficiency
Mucopolysaccharidosis type 6 (MPS 6) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B (ASB) leading to the accumulation of dermatan sulfate.
Mucopolysaccharidosis type 6
Beta-glucuronidase deficiency
MPS7
MPSVII
Mucopolysaccharidosis type VII
Sly disease
Mucopolysaccharidosis type VII (MPS VII) is a very rare lysosomal storage disease belonging to the group of mucopolysaccharidoses.
Mucopolysaccharidosis type 7
Juvenile sulfatidosis, Austin type
MSD
Mucosulfatidosis
Multiple sulfatase deficiency (MSD) is a very rare and fatal lysosomal storage disease characterized by a clinical phenotype that combines the features of different sulfatase deficiencies (whether lysosomal or not) that can have neonatal (most severe), infantile (most common) and juvenile (rare) presentations with manifestations including hypotonia, coarse facial features, mild deafness, skeletal anomalies, ichthyosis, hepatomegaly, developmental delay, progressive neurologic deterioration and hydrocephalus.
Multiple sulfatase deficiency
Mucoviscidosis
Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity.
Cystic fibrosis
Multiple keratoacanthoma, Muir-Torre type
Muir-Torre syndrome (MTS) is a form of hereditary nonpolyposis colon cancer (HNPCC) characterized by cutaneous sebaceous tumors, keratoacanthomas and at least one visceral malignancy, most frequently gastrointestinal carcinoma.
Muir-Torre syndrome
MEB syndrome
Muscle-eye-brain syndrome
Santavuori congenital muscular dystrophy
Muscle-eye-brain disease
Acquired myasthenia
Autoimmune myasthenia gravis
Myasthenia gravis (MG) is a rare, clinically heterogeneous, autoimmune disorder of the neuromuscular junction characterized by fatigable weakness of voluntary muscles.
Myasthenia gravis
AHDS
MCT8 deficiency
Monocarboxylate transporter 8 deficiency
X-linked intellectual disability-hypotonia syndrome
Allan-Herndon-Dudley syndrome (AHDS) is an X-linked intellectual disability syndrome with neuromuscular involvement characterized by infantile hypotonia, muscular hypoplasia, spastic paraparesis with dystonic/athetoic movements, and severe cognitive deficiency.
Allan-Herndon-Dudley syndrome
Congenital myasthenic syndrome (CMS) is a group of genetic disorders of impaired neuromuscular transmission at the motor endplate characterized by fatigable muscle weakness.
Congenital myasthenic syndrome
Furunculoid myiasis
Furunculous myiasis
Furuncular myiasis
Distal myopathy type 1
Gowers disease
MPD1
Laing distal myopathy, also called myopathy distal, type 1 (MPD1), is characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, and a very slowly progressive course.
Laing early-onset distal myopathy
Sorsby's fundus dystrophy is a rare progressive autosomal dominant macular dystrophy, presenting between the third and sixth decades of life, characterized by retinal atrophy and retinal detachment and leading to loss of central vision, then peripheral vision, and eventually blindness.
Sorsby pseudoinflammatory fundus dystrophy
MMF
Macrophagic myofasciitis
Myelinoclastic diffuse sclerosis
Schilder's disease
Schilder's disease is a progressive demyelinating disorder of the central nervous system.
Schilder disease
Myofibrillar myopathy (MFM) describes a group of skeletal and cardiac muscle disorders, defined by the disintegration of myofibrils and aggregation of degradation products into intracellular inclusions, and is typically clinically characterized by slowly-progressive muscle weakness, which initially involves the distal muscles, but is highly variable and that can affect the proximal muscles as well as the cardiac and respiratory muscles in some patients.
Myofibrillar myopathy
IHSC
Ichthyosis-hypotrichosis-sclerosing cholangitis syndrome
NISCH syndrome
Neonatal ichthyosis-sclerosing cholangitis (NISCH syndrome) is a very rare complex ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, ichthyosis and sclerosing cholangitis.
Neonatal ichthyosis-sclerosing cholangitis syndrome
GTN
Gestational trophoblastic tumors (GTT) are malignant forms of gestational trophoblastic disease. The tumor always follows pregnancy, most often molar pregnancy (hydatidiform mole; see this term). Four histological subtypes have been described: invasive mole, gestational choriocarcinoma, placental site trophoblastic tumor and epithelioid trophoblastic tumor (see these terms).
Gestational trophoblastic neoplasm
MLS
X-linked McLeod syndrome
McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens.
McLeod neuroacanthocytosis syndrome
Rhombencephalosynapsis (RS) is a rare malformation of the cerebellum characterised by the association of agenesis (total or partial) of the vermis and fusion of the cerebellar hemispheres.
Rhombencephalosynapsis
CNM
Centronuclear myopathy (CNM) is an inherited neuromuscular disorder characterized by clinical features of a congenital myopathy and centrally placed nuclei on muscle biopsy.
Centronuclear myopathy
X-linked myotubular myopathy
XLCNM
XLMTM
X-linked myotubular myopathy (XLMTM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.
X-linked centronuclear myopathy
Central core disease (CCD) is an inherited neuromuscular disorder characterised by central cores on muscle biopsy and clinical features of a congenital myopathy.
Central core disease
MmD
Multiminicore disease
Multi-minicore Disease (MmD) is a hereditary neuromuscular disorder characterized by multiple cores on muscle biopsy and clinical features of a congenital myopathy.
Multiminicore myopathy
Distal muscular dystrophy
Distal myopathy refers to a group of muscle diseases which share the clinical pattern of predominant weakness and atrophy beginning in the feet and/or hands.
Distal myopathy
3-methylcrotonylglycinuria
MCC deficiency
MCCD
3-methylcrotonyl-CoA carboxylase deficiency (3-MCCD) is an inherited disorder of leucine metabolism characterized by a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults.
3-methylcrotonyl-CoA carboxylase deficiency
Deficiency in Alpa-1-proteinase inhibitor
Alpha-1-antitrypsin deficiency is a hereditary disease that develops in adulthood and is characterized by chronic liver disorders (cirrhosis), respiratory disorders (emphysema), and rarely panniculitis.
Alpha-1-antitrypsin deficiency
Distal myopathy with vocal cord weakness
MATR3-related distal myopathy
Vocal cord and pharyngeal distal myopathy (VCPDM) is a rare autosomal dominant distal myopathy characterized by adult onset of muscle weakness in the feet and hands (slowly progressing to involve proximal limb muscles) combined with vocal or swallowing dysfunction and frequent respiratory muscle involvement in later stages. Normal to mildly elevated creatine kinase (CK) serum levels and rimmed-vacuolated dystrophic muscle fiber changes are associated laboratory and pathologic findings.
Vocal cord and pharyngeal distal myopathy
Silver staining
Argyria is a rare dermatosis, which can be either localized or systemic, that occurs after prolonged contact and absorption of silver containing compounds over a period of years and that is characterized by irreversible blue-gray to gray-black staining of skin, fingernails and/or mucous membranes, most evident on sun exposed areas of the skin. Silver exposure is usually occupational but may also occur through dental amalgams, the ingestion of colloidal silver, acupuncture needles, orthopedic implants and topical medications (such as silver sulfadiazine).
Argyria
Catlin marks
Fenestrae parietales symmetricae
Foramina parietalia permagna
Hereditary cranium bifidum
Symmetric parietal foramina
Enlarged parietal foramina (EPF) is a developmental defect, characterized by variable intramembranous ossification defects of the parietal bones, which is either asymptomatic, symptomatic (headaches, nausea, vomiting, intellectual disability) or associated with other pathologies.
Enlarged parietal foramina
Pulmonary alveolar microlithiasis
Pulmonary pseudolymphoma
Pulmonary nodular lymphoid hyperplasia (PNHL) is a reactive lymphoid proliferation manifesting as solitary or multiple nodules in the lung.
Pulmonary nodular lymphoid hyperplasia
Aortic aneurysm syndrome due to TGF-beta receptors anomalies
Loeys-Dietz syndrome is a rare genetic connective tissue disorder characterized by a broad spectrum of craniofacial, vascular and skeletal manifestations with four genetic subtypes described forming a clinical continuum.
Loeys-Dietz syndrome
Recurrent respiratory papillomatosis is a rare respiratory disease characterized by the development of exophytic papillomas, affecting the mucosa of the upper aero-digestive tract (with a strong predilection for the larynx), caused by an infection with human papilloma virus. Symptoms at presentation may include hoarseness, chronic cough, dyspnea, recurrent upper respiratory tract infections, pneumonia, dysphagia, stridor, and/or failure to thrive.
Recurrent respiratory papillomatosis
#160;(IB) is a progressive lung disease characterized by chronic dilation of the bronchi and destruction of the bronchial walls in the absence of any underlying cause (such as post infectious disease, aspiration, immunodeficiency, congenital abnormalities and ciliary anomalies).
Idiopathic bronchiectasis
Alcock syndrome
Pudendal algia
Pudendal nerve entrapment syndrome
Pudendal neuralgia by pudendal nerve entrapment
Pudendalgia
Pudendal neuralgia (PN) is a chronic neuropathic pain, aggravated by sitting and for which no organic cause can be found by imaging studies. It is often associated with pelvic dysfunction.
Pudendal neuralgia
MCM
MCMTC
Macrocephaly-capillary malformation syndrome
Macrocephaly-cutis marmorata telangiectatica congenita syndrome
Megalencephaly-capillary malformation syndrome
Megalencephaly-cutis marmorata telangiectatica congenita syndrome
Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is a polymalfomative syndrome characterized by cutaneous capillary malformations, megalencephaly, cortical brain malformations (most distinctively polymicrogyria), abnormalities of somatic growth with body and brain asymmetry, developmental delay, and characteristic facial dysmorphism.
Megalencephaly-capillary malformation-polymicrogyria syndrome
Congenital atrioventricular block
Congenital heart block (CHB) is a rare disorder of atrioventricular conduction, characterized by absence of conduction of atrial impulses to the ventricles with slower ventricular rhythm (atrioventricular dissociation). CHB can occur in association with immunological evidence of maternal connective disease (autoimmune CHD), fetal structural CHD or can be idiopathic.
Congenital heart block
DMRV
Distal myopathy with rimmed vacuoles
Distal myopathy, Nonaka type
HIBM2
Hereditary inclusion body myopathy type 2
IBM2
Inclusion body myopathy type 2
Nonaka myopathy
Quadriceps-sparing myopathy
GNE myopathy is a rare autosomal recessive distal myopathy characterized by early adult-onset, slowly to moderately progressive distal muscle weakness that preferentially affects the tibialis anterior muscle and that usually spares the quadriceps femoris. Muscle biopsy reveals presence of rimmed vacuoles.
GNE myopathy
WDM
Distal myopathy, Welander type (WDM) is a distal myopathy characterized by weakness in the distal upper extremities, usually finger and wrist extensors which later progresses to all hand muscles and distal lower extremity, primarily in toe and ankle extensors.
Distal myopathy, Welander type
Myotonic dystrophy type 2
Proximal myotonic dystrophy
Ricker disease
Ricker syndrome
Myotonic dystrophy type 2 (MD2), also known as proximal myotonic myopathy, is a very rare genetic multi-system disorder of late childhood or adult-onset characterized by mild myotonia, muscle weakness, and rarely cardiac conduction disorders.
Proximal myotonic myopathy
NEM
Nemaline rod myopathy
Nemaline myopathy (NM) encompasses a large spectrum of myopathies characterized by hypotonia, weakness and depressed or absent deep tendon reflexes, with pathologic evidence of nemaline bodies (rods) on muscle biopsy.
Nemaline myopathy
Distal myopathy, Udd type
Distal titinopathy
Finnish tibial muscular dystrophy
Udd myopathy
Tibial muscular dystrophy (TMD) is a distal myopathy characterized by weakness of the muscles of the anterior compartment of lower limbs, appearing in the fourth to seventh decade of life.
Tibial muscular dystrophy
Lysosomal alpha-D-mannosidase deficiency
Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit.
Alpha-mannosidosis
Benign autosomal dominant myopathy
Bethlem myopathy is a benign autosomal dominant form of slowly progressive muscular dystrophy.
Bethlem myopathy
IBM
Sporadic inclusion body myositis
sIBM
Inclusion body myositis (IBM) is a slowly progressive degenerative inflammatory disorder of skeletal muscles characterized by late onset weakness of specific muscles and distinctive histopathological features.
Inclusion body myositis
K+-aggravated myotonia
K-aggravated myotonia
PAM
Potassium-aggravated myotonia (PAM) is a muscular channelopathy presenting with a pure myotonia dramatically aggravated by potassium ingestion, with variable cold sensitivity and no episodic weakness. This group includes three forms: myotonia fluctuans, myotonia permanens, and acetazolamide-responsive myotonia (see these terms).
Potassium-aggravated myotonia
Myotonia congenita
Myotonia congenita is characterised by slow muscle relaxation associated with hyperexcitation of the muscle fibres.
Thomsen and Becker disease
Familial atrial myxoma is a rare, genetic cardiac tumor characterized by the presence of a primary, benign, gelatinous mass located in the atria and composed of primitive connective tissue cells and stroma (resembling mesenchyme) in several members of a family. Clinical presentation depends on the size, mobility and location of tumor, ranging from nonspecific and/or constitutional symptoms to sudden cardiac death, and includes dyspnea, hemoptisis, syncope, fatigue, fever, cutaneous rash, increases in venous pressure and/or peripheral edema.
Familial atrial myxoma
Medulloblastoma (MB) is an embryonic tumor of the neuroepithelial tissue and the most frequent primary pediatric solid malignancy. MB represents a heterogeneous group of cerebellar tumors characterized clinically by increased intracranial pressure and cerebellar dysfunction, with the most common presenting symptoms being headache, vomiting, and ataxia.
Medulloblastoma
Congenital primary megalo-ureter
Congenital primary megaureter (PM) is an idiopathic condition in which the bladder and bladder outlet are normal but the ureter is dilated to some extent. It may be obstructed, refluxing or unobstructed and not refluxing.
Congenital primary megaureter
Familial melanoma (FM) is a rare inherited form of melanoma characterized by development of histologically confirmed melanoma in two first degrees relatives or more relatives in an affected family.
Familial melanoma
Alpha-sarcoglycanopathy
Limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency
Autosomal recessive limb-girdle muscular dystrophy type 2D (LGMD2D) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by childhood onset of progressive proximal weakness of the shoulder and pelvic girdle muscles, resulting in difficulty walking, scapular winging, calf hypertrophy and contractures of the Achilles tendon, which lead to a tiptoe gait pattern. Cardiac and respiratory involvement is rare.
Autosomal recessive limb-girdle muscular dystrophy type 2D
Universal mesentery
Common mesentery
Autosomal recessive methemoglobinemia
Congenital methemoglobinemia
Hereditary methemoglobinemia (HM) is a rare red cell disorder classified principally into two clinical phenotypes: autosomal recessive congenital (or hereditary) methemoglobinemia types I and II (RCM/RHM type 1; RCM/RHM type 2, see these terms).
Hereditary methemoglobinemia
Functional methionine synthase deficiency
Methylcobalamin deficiency
Homocystinuria without methylmalonic aciduria
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_1359 with label: Carney complex
Familial multiple port-wine stains
Familial multiple nevi flammei is a rare, genetic capillary malformation disorder characterized by dark red to purple birthmarks which manifest as flat, sharply circumscribed cutaneous lesions, typically situated in the head and neck region, in various members of a single family. The lesions grow proportionally with the individual, change in color and often thicken with age.
Familial multiple nevi flammei
Congenital pigmented nevus
GMN
Giant congenital melanocytic nevus
Giant pigmented hairy nevus
LCMN
A large, or giant, congenital melanocytic nevus (LCMN or GCMN) is a pigmented skin lesion of more than 20 cm - or 40 cm- respectively, projected adult diameter, composed of melanocytes, and presenting with an elevated risk of malignant transformation.
Large congenital melanocytic nevus
Nance-Horan syndrome (NHS) is characterized by the association in male patients of congenital cataracts with microcornea, dental anomalies and facial dysmorphism.
Nance-Horan syndrome
Diastrophic dysplasia
Diastrophic dwarfism is a rare disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips).
Diastrophic dwarfism
Kowarski syndrome
gene (17q22-q24) that result in structural GH anomalies and a biologically inactive molecule. Transmission is autosomal recessive.
Short stature due to growth hormone qualitative anomaly
Alport deafness-nephropathy
Alport syndrome (AS) is an inherited disease characterised by glomerular nephropathy with hematuria, progressing to end-stage renal disease, associated with sensorineural deafness. It involves a structural defect of type IV collagen, which is a normal component of the glomeral basal membrane.
Alport syndrome
Congenital IGHD
Congenital isolated GH deficiency
Congenital isolated growth hormone deficiency
Non-acquired isolated growth hormone deficiency
Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
Iniencephaly is a rare form of neural tube defect in which a malformation of the cervico-occipital junction is associated with a malformation of the central nervous system.
Iniencephaly
Craniorachischisis is the most severe form of neural tube defect in which both the brain and spinal cord remain open to varying degrees. It is a very rare congenital malformation of the central nervous system.
Craniorachischisis
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_95699 with label: Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis
Distal ABD-filaminopathy
Distal myopathy with posterior leg and anterior hand involvement, also named distal ABD-filaminopathy, is a neuromuscular disease characterized by a progressive symmetric muscle weakness of anterior upper and posterior lower limbs.
Distal myopathy with posterior leg and anterior hand involvement
Gestational pemphigoid
Pemphigoid gestationis
Complete growth hormone insensitivity
GH receptor deficiency
Growth hormone receptor deficiency
Laron-type dwarfism
Primary GH insensitivity
Primary GH resistance
Primary growth hormone insensitivity
Primary growth hormone resistance
Short stature due to growth hormone resistance
Laron syndrome is a congenital disorder characterized by marked short stature associated with normal or high serum growth hormone (GH) and low serum insulin-like growth factor-1 (IGF-I) levels which fail to rise after exogenous GH administration.
Laron syndrome
Bamboo hair syndrome
Comèl-Netherton syndrome
Netherton syndrome (NS) is a skin disorder characterized by congenital ichthyosiform erythroderma (CIE), a distinctive hair shaft defect (trichorrhexis invaginata; TI) and atopic manifestations.
Netherton syndrome
Acrocephaly
Hypsicephaly
Hypsocephaly
Pyrgocephaly
Turricephaly
Isolated oxycephaly is a late-appearing form of nonsyndromic craniosynostosis characterized by premature fusion of both the coronal and sagittal sutures, and, in some cases, of the lambdoid sutures. Compensatory growth in the region of the anterior fontanel results in a pointed or cone-shaped skull.
Isolated oxycephaly
ASPED
Angel-shaped phalango-epiphyseal dysplasia (ASPED) is a form of acromelic dysplasia (see this term) characterized by the distinctive radiological sign of angel-shaped middle phalanges, a typical metacarpophalangeal pattern profile (mainly affecting first metacarpals and middle phalanges of second, third and fifth digits, which all appear short), epiphyseal changes in the hips and, in some, abnormal dentition and delayed bone age.
Angel-shaped phalango-epiphyseal dysplasia
Rare gastric epithelial tumor
Rare epithelial tumor of stomach
Acrocapitofemoral dysplasia is a recently delineated skeletal dysplasia, characterized clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax.
Acrocapitofemoral dysplasia
Patterned dystrophy of the retinal pigment epithelium
Pattern dystrophy
Pemphigus is a group of chronic autoimmune skin diseases characterised by blisters formation on the outer layer of the skin and the mucous membranes. Three clinical forms have been characterised, of which paraneoplastic pemphigus is extremely rare.
Paraneoplastic pemphigus
Neuroblastoma is a malignant tumor of neural crest cells, the cells that give rise to the sympathetic nervous system, which is observed in children.
Neuroblastoma
NF1
Von Recklinghausen disease
Neurofibromatosis type 1 (NF1) is a clinically heterogeneous, neurocutaneous genetic disorder characterized by café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas.
Neurofibromatosis type 1
Bilateral acoustic neurofibromatosis
Central neurofibromatosis
NF2
Neurofibromatosis type 2 (NF2) is a tumor-prone disorder characterized by the development of multiple schwannomas and meningiomas.
Neurofibromatosis type 2
NFNS
Neurofibromatosis type 1-Noonan syndrome
Neurofibromatosis-Noonan syndrome (NFNS) is a RASopathy and a variant of neurofibromatosis type 1 (NF1) characterized by the combination of features of NF1, such as café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, optic nerve glioma and multiple neurofibromas, and Noonan syndrome (NS), such as short stature, typical facial features (hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly rotated ears with a thickened helix, and a broad forehead), congenital heart defects and unusual pectus deformity. As these three entities have significant phenotypic overlap, molecular genetic testing is often necessary for a correct diagnosis (such as when café-au-lait spots are present in patients diagnosed with NS).
Neurofibromatosis-Noonan syndrome
Schisis association describes the combination of two or more of the following anomalies: neural tube defects (e.g. anencephaly, encephalocele, spina bifida cystica), cleft lip/palate, omphalocele and congenital diaphragmatic hernia (see these terms). These anomalies are associated at a higher frequency than would be expected with random combination rates.
Schisis association
Anti-MAG neuropathy
Neuropathy associated with monoclonal IgM antibodies to myelin-associated glycoprotein
Polyneuropathy associated with IgM monoclonal gammapathy (MG) with anti-MAG (myelin-associated-glycoprotein) activity is a demyelinating polyneuropathy characterized clinically by sensory ataxia, tremor, paresthesia, and impaired gait.
Polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG
Fibrosing mediastinitis
Mediastinal fibrosis
Sclerosing mediastinitis
IgG4-related mediastinitis
Alström syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM; see this term), and progressive hepatic and renal dysfunction.
Alström syndrome
Current pressure-sensitive neuropathy
Heterozygous microdeletion 17p11.2p12
Potato-grubbing palsy
Tomaculous neuropathy
Tulip-bulb digger's palsy
Hereditary neuropathy with liability to pressure palsies (HNPP) is an inherited peripheral nerve disorder characterized by recurrent mononeuropathy usually triggered by minor physical activities.
Hereditary neuropathy with liability to pressure palsies
MMN
MMNCB
Multifocal motor neuropathy with conduction block
Multifocal motor neuropathy (MMN) is a rare acquired immune-mediatedneuropathy characterized clinically by a purely motor deficit with conduction block and asymmetric multifocal weakness, fasciculations, and cramping.
Multifocal motor neuropathy
CIP-anhidrosis syndrome
Congenital insensitivity to pain-anhidrosis syndrome
HSAN4
Hereditary sensory and autonomic neuropathy type IV
Hereditary sensory and autonomic neuropathy, type 4 (HSAN4) is an inherited disorder characterized by anhidrosis, insensitivity to pain, self-mutilating behavior and episodes of fever.
Hereditary sensory and autonomic neuropathy type 4
Pyknolepsy
Childhood absence epilepsy (CAE) is a familial generalized pediatric epilepsy, characterized by very frequent (multiple per day) absence seizures, usually occurring in children between the ages of 4 and 10 years, with, in most cases, a good prognosis.
Childhood absence epilepsy
GAN
Giant axonal neuropathy (GAN) is a severe, slowly progressive neurodegenerative disorder characterized by progressive motor and sensory peripheral neuropathy, central nervous system involvement (including pyramidal and cerebellar signs), and characteristic kinky hair in most cases.
Giant axonal neuropathy
Neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome
Neuropathy-ataxia-retinitis pigmentosa syndrome
Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome is a clinically heterogeneous progressive condition characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy.
NARP syndrome
Kennedy-Teebi syndrome
Acrofacial dysostosis, Kennedy-Teebi type was reported as a new type of acrofacial dysostosis (see this term) due to the presence of manifestations not usually seen in Nager syndrome (NS; see this term) such as microcephaly, blepharophimosis, microtia, a peculiar beakednose, cleft lip and palate, symmetrical involvement of the thumbs and great toes and developmental delay. It has since been suggested that these features can also be a part of the NS phenotype.
Acrofacial dysostosis, Kennedy-Teebi type
BINS
Benign nonfamilial neonatal seizures
Benign idiopathic neonatal seizures
Niemann-Pick disease type C (NP-C) is a lysosomal lipid storage disease (see this term) characterized by variable clinical signs, depending on the age of onset, such as prolonged unexplained neonatal jaundice or cholestasis, isolated unexplained splenomegaly, and progressive, often severe neurological symptoms such as cognitive decline, cerebellar ataxia, vertical supranuclear gaze palsy (VSPG), dysarthria, dysphagia, dystonia, seizures, gelastic cataplexy, and psychiatric disorders.
Niemann-Pick disease type C
Painful ophthalmoplegia
Tolosa-Hunt syndrome is an ophthalmoplegic syndrome, affecting all age groups, characterized by acute attacks (lasting a few days to a few weeks) of periorbital pain, ipsilateral ocular motor nerve palsies, ptosis, disordered eye movements and blurred vision usually caused by a non-specific inflammatory process in the cavernous sinus and superior orbital fissure. It has an unpredicatable course with spontaneous remission occurring in some and recurrence of attacks in others.
Tolosa-Hunt syndrome
Bartonellosis due to Bartonella bacilliformis infection
Carrion disease
Oroya fever
Bartonellosis due to Bartonella quintana infection
Trench fever
AT V1
Ataxia-telangiectasia, variant 1
Berlin breakage syndrome
Immunodeficiency-microcephaly-chromosomal instability syndrome
Microcephaly-immunodeficiency-lymphoreticuloma syndrome
NBS
Seemanova syndrome type 2
Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections.
Nijmegen breakage syndrome
Leiomyosarcoma
Idiopathic granulomatous mastitis
Granulomatous mastitis
ICE syndrome
Iridocorneal endothelial (ICE) syndrome describes a group of progressive corneal proliferative endotheliopathies comprised of Chandlers syndrome, Cogan-Reese syndrome and essential iris atrophy (see these terms), affecting mainly young adult females and characterized by iris holes and atrophy, papillary distortion, anterior synechiae, corneal edema and often with secondary glaucoma and corneal decompensation as complications
Iridocorneal endothelial syndrome
OHSS
Ovarian hyperstimulation syndrome
Recurrent acute pancreatitis (RAP) is characterized by repeated attacks of acute pancreatitis (AP), which is defined as an acute inflammatory process of the pancreas with variable involvement of other regional tissues or remote organ systems.
Recurrent acute pancreatitis
Pneumoblastoma
Pulmonary blastoma (PB) is a biphasic primary lung neoplasm, belonging to the group of sarcomatoid lung carcinomas (SLCs; see this term). The tumor contains both an epithelial well-differentiated component, showing tubular architecture resembling the normal fetal lung, and a mesenchymal undifferentiated stroma with a so-called ''blastema-like'' configuration that resembles an embryonic lung.
Pulmonary blastoma
Pleuropulmonary blastoma
Obliterative portal venopathy
Hepatoportal sclerosis (HPS) is a rare disorder characterized by sclerosis of the intrahepatic portal veins, non-cirrhotic portal hypertension, asymptomatic splenomegaly and recurrent variceal bleeding.
Hepatoportal sclerosis
Riedel disease
Riedel thyroiditis
Riedel thyroiditis is a fibroinflammatory disorder of the thyroid gland, occuring more frequently in females, characterized a large, hard thyroid mass, and presenting with pressure symptoms (breathing difficul¬ties and dysphagia) or voice hoarseness and aphonia (impingement of recurrent laryngeal nerve). It can often be associated with extracervical fibroinflammatory disorders such as retroperitoneal fibrosis, primary scleroisng cholangitis and autoimmune diseases such as Hashimoto struma, Addison disease, and Biermer disease (see these terms).
IgG4-related thyroid disease
PUPPP
Polymorphic eruption of pregnancy
Pruritic urticarial papules and plaques of pregnancy
Autosomal dominant axonal Charcot-Marie-Tooth disease
CMT2
Hereditary motor and sensory neuropathy type 2
Autosomal dominant Charcot-Marie-Tooth disease type 2
CMTX
X-linked hereditary motor and sensory neuropathy
X-linked Charcot-Marie-Tooth disease (CMTX) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases.
X-linked Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 3
HMSN 3
HMSN III
Hereditary motor and sensory neuropathy type 3
Hereditary motor and sensory neuropathy type III
(19q13.2) have been implicated.
Dejerine-Sottas syndrome
AR-CMT1
Autosomal recessive demyelinating Charcot-Marie-Tooth
Charcot-Marie-Tooth disease type 4 (CMT4) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases.
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease-pyramidal features syndrome
HMSN 5
Hereditary motor and sensory neuropathy type 5 is a rare axonal hereditary motor and sensory neuropathy characterized by slowly progressive distal muscle weakness and atrophy with or without sensory loss resulting in difficulty in walking, foot drop and pes cavus, that may be associated with pyramidal signs (extensor plantar responses, mild increase in tone, brisk tendon reflexes), muscle cramps, pain and spasticity.
Hereditary motor and sensory neuropathy type 5
Congenital insensitivity to pain and thermal analgesia
HSAN5
Hereditary sensory and autonomic neuropathy type V
Hereditary sensory and autonomic neuropathy, type 5 (HSAN5) is characterized by loss of pain perception and impaired temperature sensitivity, in the absence of any other major neurological anomalies.
Hereditary sensory and autonomic neuropathy type 5
Ataxia-oculomotor apraxia type 2
SCAN 2
SCAR1
Spinocerebellar ataxia with axonal neuropathy type 2 (AOA2) is a rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with frequent oculomotor apraxia, severe neuropathy and an elevated serum alpha-fetoprotein (AFP) level.
Spinocerebellar ataxia with axonal neuropathy type 2
Nevus comedonicus syndrome
Pigmentary hairy epidermal nevus
Becker nevus syndrome
Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphism and congenital heart defects.
Noonan syndrome
Atrophia bulborum hereditaria
Episkopi blindness
Norrie-Warburg disease
Norrie disease (ND) is a rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders.
Norrie disease
Amaurosis congenita of Leber
Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness and responses to electrophysiological stimulation (Ganzfeld electroretinogram (ERG)) below threshold, associated with severe visual impairment within the first year of life.
Leber congenital amaurosis
Lecithin-cholesterol acyltransferase deficiency
LCAT (lecithin-cholesterol acyltransferase) deficiency is a rare lipoprotein metabolism disorder characterized clinically by corneal opacities, and sometimes renal failure and hemolytic anemia, and biochemically by severely reduced HDL cholesterol.
LCAT deficiency
MEN1
Wermer syndrome
Multiple endocrine neoplasia Type 1 (MEN1) is a frequent form of MEN (see this term), a rare inherited cancer syndrome, characterized by the development of neuroendocrine tumors of the parathyroid, pancreas, and anterior pituitary gland, and less commonly the adrenal cortical gland, with other non-endocrine tumors in some patients.
Multiple endocrine neoplasia type 1
Tarlov cyst
Perineural (or Tarlov) cysts are cerebrospinal fluid-filled nerve root cysts most commonly found at the sacral level of the spine, although they can be found in any section of the spine, which can cause progressively painful radiculopathy.
Perineural cyst
KWWH type II
Keratoderma with woolly hair type II
Woolly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome
Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
Wooly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome
Wooly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome is characterized by woolly hair, palmoplantar keratoderma and dilated cardiomyopathy principally affecting the left ventricle.
Carvajal syndrome
Long QT syndrome type 8
Long QT syndrome-syndactyly syndrome
Timothy syndrome is a multi-system disorder characterized by cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders.
Timothy syndrome
BBGD
BTBGD
Biotin-responsive basal ganglia disease
Biotin-thiamine-responsive basal ganglia disease
Dysplastic gangliocytoma of the cerebellum
LDD
Lhermitte-Duclos disease (LDD) is a very rare disorder characterized by abnormal development and enlargement of the cerebellum, and an increased intracranial pressure.
Lhermitte-Duclos disease
3q subtelomere deletion syndrome
3qter deletion
Del(3)(q29)
Monosomy 3q29
Monosomy 3qter
3q29 microdeletion syndrome is a recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features.
3q29 microdeletion syndrome
Beta-alanine synthase deficiency
Beta-ureidopropionase deficiency is a very rare pyrimidine metabolism disorder described in fewer than 10 patients to date with an extremely wide clinical picture ranging from asymptomatic cases to neurological (epilepsy, autism) and developmental disorders (urogenital, colorectal).
Beta-ureidopropionase deficiency
Pancreatic and cerebellar agenesis
Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome is characterized by neonatal diabetes mellitus associated with cerebellar and/or pancreatic agenesis.
Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
MEN2
Multiple endocrine neoplasia type 2 (MEN2) is a multiple endocrine neoplasia (see this term), a polyglandular cancer syndrome characterized by the occurrence of medullary thyroid carcinoma (MTC), pheochromocytoma (PCC; see these terms), in one variant, primary hyperparathyroidism (PHPT). There are three forms: MEN2A, MEN2B, and familial medullary thyroid carcinoma (FMTC) (see these terms).
Multiple endocrine neoplasia type 2
Renal embryonic tumor
Wilms tumor
Nephroblastoma is the most frequent malignant renal tumor in children and is associated with an abnormal proliferation of cells that resemble the kidney cells of an embryo (metanephroma), leading to the term embryonal tumor.
Nephroblastoma
Nephronophthisis is a chronic tubulointerstitial nephropathy that progresses to end-stage renal failure.
Nephronophthisis
Familial idiopathic nephrotic syndrome
Familial idiopathic steroid-resistant nephrotic syndrome is characterized by a nephrotic syndrome with often early onset.
Familial idiopathic steroid-resistant nephrotic syndrome
Vaginal atresia
BRIC
Summerskill-Walshe-Tygstrup syndrome
Benign recurrent intrahepatic cholestasis (BRIC) is a hereditary liver disorder characterized by intermittent episodes of intrahepatic cholestasis, generally without progression to chronic liver damage. BRIC is now believed to belong to a clinical spectrum of intrahepatic cholestatic disorders that ranges from the mild intermittent attacks in BRIC to the severe, chronic and progressive cholestasis seen in progressive familial intrahepatic cholestasis (PFIC; see this term).
Benign recurrent intrahepatic cholestasis
Epilepsy due to FCD
Isolated focal cortical dysplasia is a rare, genetic, non-syndromic cerebral malformation due to abnormal neuronal migration disorder characterized by variable-sized, focalized malformations located in any part(s) of the cerebral cortex, which manifests with drug-resistant epilepsy (usually leading to intellectual disability) and behavioral disturbances. Abnormal MRI findings (e.g. abnormal white and/or grey matter signal, blurred gray-white matter junction, localized volume loss, cortical thickening, abnormal gyral pattern, abnormal hippocampus) and variable histopathologic patterns are associated.
Isolated focal cortical dysplasia
Benign focal amyotrophy
Hirayama disease
JMADUE
Juvenile muscular atrophy of distal upper extremity
Juvenile muscular atrophy of the distal upper limb
Monomelic amyotrophy (MA) is a rare benign lower motor neuron disorder characterized by muscular weakness and wasting in the distal upper extremities during adolescence followed by a spontaneous halt in progression and a stabilization of symptoms.
Monomelic amyotrophy
CHI
Persistent hyperinsulinemic hypoglycemia of infancy
Congenital isolated hyperinsulinism (CHI), a rare endocrine disease is the most frequent cause of severe and persistent hypoglycemia in the neonatal period and early infancy and is characterized by an excessive or uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia requiring rapid and intensive treatment to prevent neurological sequelae. CHI comprises 2 different forms: diazoxide-sensitive diffuse hyperinsulinism and diazoxide-resistant hyperinsulinism (see these terms).
Congenital isolated hyperinsulinism
Distal arthrogryposis type 4
Distal arthrogryposis type IID
Distal arthrogryposis type 4 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and a mild to severe scoliosis. Intelligence is normal.
Arthrogryposis-severe scoliosis syndrome
Distal arthrogryposis type 8
Autosomal dominant multiple pterygium syndrome is a rare distal arthrogryposis syndrome characterized by multiple pterygia (typically involving the neck, axilla and popliteal areas), joint contractures, ptosis, camptodactyly of the hands with hypoplastic flexion creases, vertebral fusions, severe scoliosis and short stature.
Autosomal dominant multiple pterygium syndrome
Familial primary self-healing squamous epithelioma of the skin, Ferguson-Smith type
Ferguson-Smith disease
MSSE
Multiple keratoacanthoma, Ferguson-Smith type
Self-healing squamous epithelioma type 1
Multiple self-healing squamous epithelioma (also known as Ferguson-Smith disease (FSD)) is a rare inherited skin cancer syndrome characterized by the development of multiple locally invasive skin tumors resembling keratoacanthomas of the face and limbs which usually heal spontaneously after several months leaving pitted scars.
Multiple self-healing squamous epithelioma
Autosomal dominant demyelinating Charcot-Marie-Tooth disease
CMT1
Charcot-Marie-Tooth neuropathy type 1
Hereditary motor and sensory neuropathy type 1
Charcot-Marie-Tooth disease type 1 (CMT1) is a group of autosomal dominant demyelinating peripheral neuropathies characterized by distal weakness and atrophy, sensory loss, foot deformities, and slow nerve conduction velocity.
Charcot-Marie-Tooth disease type 1
ACPS2
Acrocephalopolysyndactyly type 2
Carpenter syndrome is a subtype of a family of genetic disorders known as acrocephalopolysyndactyly (ACPS) disorders.
Carpenter syndrome
ACPS4
Acrocephalopolysyndactyly type 4
Goodman syndrome is an extremely rare genetic disorder characterized by marked malformations of the head and face (essentially acrocephaly), abnormalities of the hands and feet (polydactyly, syndactyly, clinodactyly, camptodactyly, ulnar deviation), and congenital heart disease. There have been no further descriptions in the literature since 1979. Goodman syndrome could be a variant of Carpenter syndrome.
Goodman syndrome
Angioneurotic edema
Bradykinine-induced angioedema
Non histamine-induced angioedema
Angioedema is characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain.
Non-histaminic angioedema
Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques
Olmsted syndrome
Palmoplantar and periorificial keratoderma
Mutilating palmoplantar keratoderma (PPK) with periorificial keratotic plaques (also known as Olmsted syndrome) is a hereditary palmoplantar keratoderma characterized by the combination of bilateral mutilating transgredient palmoplantar keratoderma and periorificial keratotic plaques.
Mutilating palmoplantar keratoderma with periorificial keratotic plaques
Omphalocele is an embryopathy classified in the group of abdominal celosomias and is characterized by a large hernia of the abdominal wall, centered on the umbilical cord, in which the protruding viscera are protected by a sac.
Omphalocele
CCHS
Central congenital hypoventilation syndrome
Congenital central alveolar hypoventilation syndrome
Ondine curse
gene is found in 90% of the patients. Association with a Hirschsprung's disease is observed in 16% of the cases. Despite a high mortality rate and a lifelong dependence to mechanical ventilation, the long-term outcome of CCHS should be ultimately improved by multidisciplinary and coordinated follow-up of the patients.
Ondine syndrome
Lymphedema with yellow nails
YNS
Yellow nail syndrome (YNS) is a very rare syndromic disorder characterized by the variable triad of characteristic yellow nails, chronic respiratory manifestations, and primary lymphedema.
Yellow nail syndrome
Maternally-inherited CPEO
Maternally-inherited chronic progressive external ophthalmoplegia
mtDNA-related progressive external ophthalmoplegia
Mitochondrial DNA-related progressive external ophthalmoplegia
OCT deficiency
OTC deficiency
Ornithine carbamoyltransferase deficiency
Ornithine transcarbamylase deficiency (OTCD) is a disorder of urea cycle metabolism and ammonia detoxification (see this term) characterized by either a severe, neonatal-onset disease found almost exclusively in males, or later-onset (partial) forms of the disease. Both present with episodes of hyperammonemia that can be fatal and which can lead to neurological complications.
Ornithine transcarbamylase deficiency
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_457059 with label: Pseudohypoparathyroidism with Albright hereditary osteodystrophy
Short fifth metacarpals-insulin resistance syndrome is characterised by bilateral shortening of the fifth fingers and fifth metacarpals. It has been described in several members of one family. Some members of the family also had spherocytosis and insulin resistance. Transmission is autosomal dominant.
Short fifth metacarpals-insulin resistance syndrome
Ampulla cardiomyopathy
Apical ballooning syndrome
Ballooning cardiomyopathy
Broken heart syndrome
Stress cardiomyopathy
Tako-Tsubo syndrome
Takotsubo cardiomyopathy
Takotsubo syndrome
Transient left ventricular apical ballooning syndrome
Takotsubo cardiomyopathy (TC) is a recently described acute cardiac syndrome that mimics acute myocardial infarction and is characterized by ischemic chest symptoms, an elevated ST segment on electrocardiogram, and elevated levels of cardiac disease markers.
Tako-Tsubo cardiomyopathy
Brittle bone disease
Glass bone disease
Lobstein disease
Osteopsathyrosis
Porak and Durante disease
Osteogenesis imperfecta (OI) comprises a heterogeneous group of genetic disorders characterized by increased bone fragility, low bone mass, and susceptibility to bone fractures with variable severity.
Osteogenesis imperfecta
Pediatric autoimmune disorders associated with Streptococcus infections
Pediatric autoimmune neuropsychiatric disorders associated with Streptococcus infections
PANDAS is an acronym for Pediatric Autoimmune Neuropsychiatric Disorders Associated with a group A beta-hemolytic Streptococcal infection and applied to a subgroup of children with obsessive-compulsive disorder (OCD) and/or tic disorders.
PANDAS
Cerebro-oculo-nasal syndrome is a multisystem malformation syndrome that has been reported in about 10 patients. The clinical features include bilateral anophthalmia, abnormal nares, central nervous system anomalies, and neurodevelopmental delay.
Cerebrooculonasal syndrome
Diffuse-type GCT
Diffuse-type giant cell tumor
TGCT
TSGCT
Tenosynovial giant cell tumor
Pigmented villonodular synovitis (PVNS) is a rare benign proliferative disorder of the synovial membrane primarily affecting young adults (with a peak age of onset in the second to fourth decade of life) characterized by proliferative, locally invasive tumor-like lesions, usually involving a single joint, tendon sheath or bursa (most commonly the joints of the knee and hip and rarely others such as the ankle, shoulder and temporomandibular joints). It presents with pain and limitation of motion along with swelling, heat and tenderness over the involved joint, eventually leading to arthritic degeneration and significant locomotor deficit, if left untreated. PVNS can recur in patients even after treatment.
Pigmented villonodular synovitis
Congenital leptin deficiency is a form of monogenic obesity characterised by severe early-onset obesity and marked hyperphagia.
Obesity due to congenital leptin deficiency
GOSHS
Megacolon-microcephaly syndrome
Goldberg-Shprintzen megacolon syndrome is a multiple malformation syndrome characterized by Hirschprung megacolon with microcephaly, hypertelorism, submucous cleft palate, short stature and learning disability.
Goldberg-Shprintzen megacolon syndrome
Congenital pseudarthrosis of the clavicle
Congenital pseudoarthrosis of the clavicle is a rare benign condition, characterized by a painless mass or swelling over the clavicle.
Congenital pseudoarthrosis of the clavicle
Cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome
CEDNIK syndrome is a neurocutaneaous syndrome characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis.
CEDNIK syndrome
Sensorineural hearing loss-early graying-essential tremor syndrome is characterised by the combination of sensorineural hearing loss, early greying of scalp hair and adult onset essential tremor.
Sensorineural hearing loss-early graying-essential tremor syndrome
3-methylglutaconic aciduria type 5
DCMA syndrome
MGA5
Dilated cardiomyopathy with ataxia (DCMA) is characterized by severe early onset (before the age of three years) dilated cardiomyopathy (DCM) with conduction defects (long QT syndrome), non-progressive cerebellar ataxia, testicular dysgenesis, and 3-methylglutaconic aciduria.
Dilated cardiomyopathy with ataxia
Diaphanospondylodysostosis is characterized by absent ossification of the vertebral bodies and sacrum associated with variable anomalies. It has been described in less than ten patients from different families. Manifestations include a short neck, a short wide thorax, a reduced number of ribs, a narrow pelvis, and inconstant anomalies such as myelomeningocele, cystic kidneys with nephrogenic rests, and cleft palate.
Diaphanospondylodysostosis
Cutaneous mastocytosis is a term referring to a group of diseases characterized by abnormal accumulation and proliferation of skin mastocytes. In some cases (most commonly in adults), cutaneous mastocytosis may occur in association with mast cell infiltration of various extracutaneous organs, in which case the disorder is referred to as systemic mastocytosis (see this term).
Cutaneous mastocytosis
Mast cell sarcoma is a rare, neoplastic disease characterized by locally destructive sarcoma-like growth of a solitary mass, composed of atypical mast cells, and without systemic involvement. It can affect any organ and the symptoms depend on the location. Cells are medium to large, pleomorphic or epithelioid, with oval, bilobed or multilobulated nuclei, sometimes prominent multinucleated giant cells. The disease closely resembles other neoplasms and may share associated markers, however the tumor is positive for mast cell tryptase.
Mast cell sarcoma
Extracutaneous mastocytoma
Infantile malignant osteopetrosis
Infantile malignant osteopetrosis is a rare congenital disorder of bone resorption characterised by generalised skeletal densification.
Autosomal recessive malignant osteopetrosis
Osteogenic sarcoma
Osteosarcoma is a primary malignant tumour of the skeleton characterised by the direct formation of immature bone or osteoid tissue by the tumour cells.
Osteosarcoma
use http://www.orpha.net/ORDO/Orphanet_364541 with label: Otopalatodigital syndrome spectrum disorder
, mainly occurring in tropical regions after the ingestion of an amoebic cyst, and resulting in clinical manifestations that may range from an asymptomatic state to amoebic colitis (violent abdominal pain, a painful contracted feeling around the anal sphincter, blood and mucus in the stools but without the presence of fever), or amoebic liver abscesses (fever, chills, abdominal pain, weight loss, hepatomegaly) that can be fatal if not immediately treated. Extraintestinal involvement elsewhere (i.e. thoracic, hepatic) is extremely rare.
Amoebiasis due to Entamoeba histolytica
Autosomal dominant optic atrophy type 3
OPA3, autosomal dominant
gene (19q13.32).
Autosomal dominant optic atrophy and cataract
B-CLL
B-cell chronic lymphoid leukemia
Small lymphocytic lymphoma
B-cell chronic lymphocytic leukemia (B-CLL) is a type of B-cell non-Hodgkin lymphoma (see this term), and the most common form of leukemia in Western countries, affecting elderly adults (mean age of 67 and 72 years) with a slight male predominance (1.7:1), and characterized by a highly variable clinical presentation that can include asymptomatic disease or non-specific B-symptoms such as unintentional weight loss, severe fatigue, fever (without evidence of infection), and night sweats as well as cervical lymphadenopathy, splenomegaly and frequent infections. Some patients can also develop autoimmune complications such as autoimmune hemolytic anemia or immune thrombocytopenia (see these terms). The clinical course is extremely heterogeneous with survival ranging from a few months to several decades.
B-cell chronic lymphocytic leukemia
Segmental odontomaxillary dysplasia (SOD) is a rare disorder characterized by unilateral enlargement of the right or left maxillary alveolar bone and gingiva in the region from the back of the canines to the maxillary tuberosity. In the enlarged region, dental abnormalities such as missing teeth, abnormal spacing and delayed eruption occur.
Segmental odontomaxillary dysplasia
MPS9
MPSIX
Mucopolysaccharidosis type 9
Mucopolysaccharidosis type IX
Hyaluronidase deficiency
Autosomal dominant late-onset retinal degeneration
Late-onset retinal degeneration is an inherited retinal dystrophy characterized by delayed dark adaptation and nyctalopia and drusen deposits presenting in adulthood, followed by cone and rod degeneration that presents in the sixth decade of life, which leads to central vision loss. Anterior segment features such as peripupillary iris transillumination defects and abnormally long anterior zonular insertions are also observed. Choroidal neovascularization and glaucoma may occur in the late stages of the disease.
Late-onset retinal degeneration
that generally occurs in contact lens wearers and that is characterized by severe ocular pain, blepharospasm, photophobia, eye tearing, blurred vision and foreign body sensation. It can lead to impaired visual acuity if not treated promptly.
Acanthamoeba keratitis
Congenital dyserythropoietic anemia with thombocytopenia
X-linked congenital dyserythropoietic anemia with thrombocytopenia
XDAT
Thrombocytopenia with congenital dyserythropoietic anemia (CDA; see this term) is a rare hematological disorder, seen almost exclusively in males, characterized by moderate to severe thrombocytopenia with hemorrhages with or without the presence of mild to severe anemia.
Thrombocytopenia with congenital dyserythropoietic anemia
MRGH
X-linked intellectual disability with isolated growth hormone deficiency
3-methylglutaconyl-CoA hydratase deficiency
3MG-CoA hydratase deficiency
MGA1
3-methylglutaconic aciduria (3-MGA) type I is an inborn error of leucine metabolism with a variable clinical phenotype ranging from mildly delayed speech to psychomotor retardation, coma, failure to thrive, metabolic acidosis and dystonia.
3-methylglutaconic aciduria type 1
Autosomal recessive optic atrophy plus syndrome
Autosomal recessive optic atrophy type 3
Costeff optic atrophy syndrome
Costeff syndrome
Infantile optic atrophy with chorea and spastic paraplegia
3-methylglutaconic aciduria type III (MGA III) is an organic aciduria characterised by the association of optic atrophy and choreoathetosis with 3-methylglutaconic aciduria.
3-methylglutaconic aciduria type 3
MGA4
3-methylglutaconic aciduria (3-MGA) type IV, or unclassified 3-MGA, is a clinically heterogeneous disorder characterised by increased 3-methylglutaconic acid excretion in individuals that cannot be classified as having one of the other forms of 3-MGA (3-MGA I, II or III).
3-methylglutaconic aciduria type 4
Cutis verticis gyrata (CVG) is a progressive cutaneous disorder predominantly affecting males and characterized by hypertrophy and thickening of the skin of the scalp forming convoluted furrows with deep, tender, and cerebriform cutaneous folds. Hair is usually normal in the furrows and sparse on the folds. CG can be isolated (essential CVG) or associated with other abnormalities such as intellectual deficit, epilepsy, cataract, blindness, and deafness (non essential CVG).
Primary cutis verticis gyrata
Hypothalamic hamartoblastoma syndrome
Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations.
Pallister-Hall syndrome
mosquito bites to humans and is typically clinically characterized by attacks of fever, headache, chills and vomiting.
Malaria
Accessory pancreas is an asymptomatic embryopathy characterized by the presence of pancreatic tissue in other sites of the body such as the splenic pedicle, gonadic pedicles, intestinal mesentery, duodenum wall, upper jejunum, or, more rarely, the gastric wall, ileum, gallbladder or spleen.
Accessory pancreas
Annular pancreas is a distinct form of duodenal atresia (see this term) in which the head of the pancreas forms a ring around the second portion of the duodenum.
Annular pancreas
Hereditary chronic pancreatitis (HCP), a rare inherited form of pancreatitis is defined as recurrent acute pancreatitis and/or chronic pancreatitis in two first-degree relatives or 3 or more second-degree relatives in 2 or more generations, for which no predisposing factors are identified. HCP is characterized by irreversible damage to both exocrine and endocrine components of the pancreas.
Hereditary chronic pancreatitis
Pancreatoblastoma is a rare malignant epithelial pancreatic neoplasm, most often found in children, which usually presents with the non-specific symptoms of a palpable mass, vomiting abdominal pain, jaundice, and weight loss/failure to thrive, and is characterized histologically by multiple lines of differentiation (acinar, ductal, mesenchymal, neuroendocrine) and the presence of squamoid nests.
Pancreatoblastoma
Keratosis palmoplantar-periodontopathy syndrome
Papillon-Lefèvre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis.
Papillon-Lefèvre syndrome
Degos disease
Köhlmeier-Degos disease
Köhlmeier-Degos-Delort-Tricort syndrome
Papulosis atrophican maligna
Malignant atrophic papulosis (MAP) is a rare, chronic, thrombo-obliterative vasculopathy characterized by papular skin lesions with central porcelain-white atrophy and a surrounding teleangiectatic rim. Systemic lesions may affect the gastrointestinal tract and the central nervous system (CNS) and are potentially lethal.
Malignant atrophic papulosis
genera are able to parasitize humans.
Amoebiasis due to free-living amoebae
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_682 with label: Hyperkalemic periodic paralysis
Westphall disease
Hypokalemic periodic paralysis (hypoPP) is characterised by episodes of muscle paralysis lasting from a few to 24-48 hours and associated with a fall in blood potassium levels.
Hypokalemic periodic paralysis
Adynamia episodica hereditaria
Familial hyperPP
Familial hyperkalemic periodic paralysis
Gamstorp disease
Gamstorp episodic adynamy
HyperKPP
HyperPP
Hyperkalemic PP
Primary hyperPP
Primary hyperkalemic periodic paralysis
Hyperkalemic periodic paralysis (HyperPP) is a muscle disorder characterized by episodic attacks of muscle weakness associated with an increase in serum potassium concentration.
Hyperkalemic periodic paralysis
PSP syndrome
Progressive supranuclear palsy (PSP) is a rare late-onset neurodegenerative disease characterized by supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia.
Progressive supranuclear palsy
Rare maxillofacial anomaly
Rare maxillo-facial surgical disease
Rare bleeding disorder due to a constitutional coagulation factors defect
Rare coagulopathy due to a constitutional coagulation factors defect
Rare hemorrhagic disorder due to a constitutional coagulation factors defect
Chromosomal anomaly
Rare genetic tumor
Multiple congenital anomalies/dysmorphic syndrome
Rare genodermatosis
Rare genetic skin disease
Tumor of hematopoietic and lymphoid tissues
Sleep disorder
Leukodystrophy
Rare deafness
Rare vascular disease
Rare dystonic disorder
Rare dystonia
Hemoglobinopathy
Lysosomal disease
Rare metabolic disease
Rare inborn errors of metabolism
Peroxisomal disease
Congenital limb malformation
Mitochondrial disease
Neuromuscular disease
Rare constitutional aplastic anemia
Neurometabolic disease
use http://www.orpha.net/ORDO/Orphanet_98196 with label: Malformation syndrome with hamartosis
Paramyotonia congenita
Paramyotonia congenita of Von Eulenburg is characterised by exercise- or cold-induced myotonia and muscle weakness. Prevalence is unknown. The syndrome is nonprogressive and is transmitted as an autosomal dominant trait. It is caused by mutations in the gene encoding the alpha subunit of the type IV voltage-gated sodium channel (SCN4A; 17q23.3).
Paramyotonia congenita of Von Eulenburg
Rare hypokinetic movement disorder
Rare parkinsonian disorder
Rare bone tumor
Rare parathyroid disease and phosphocalcic metabolism anomaly
Rare infectious disease
Vascular anomaly or angioma
Familial spastic paraplegia
HSP
Hereditary spastic paraparesis
Strümpell-Lorrain disease
Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders characterized by progressive spasticity and hyperreflexia of the lower limbs.
Hereditary spastic paraplegia
Amyloidosis is a vast group of diseases defined by the presence of insoluble protein deposits in tissues. Amyloidoses are classified according to clinical signs and biochemical type of amyloid protein involved.
Amyloidosis
Brachydactyly ('short digits') is a general term that refers to disproportionately short fingers and toes, and forms part of the group of limb malformations characterized by bone dysostosis.
Dysostosis with brachydactyly
Steroid-sensitive nephrotic syndrome (SSNS) is a kidney disease defined by selective proteinuria, hypoalbuminaemia and, on renal biopsy, minimal changes without immunoglobulin deposits.
Idiopathic steroid-sensitive nephrotic syndrome
Alloimmune neonatal renal disease
FMAIG
Fetomaternal alloimmunization with antenatal glomerulopathies
Neonatal glomerulopathy due to Neprilysin alloimmunization
Neonatal membranous glomerulopathy with maternal NEP deficiency
Neonatal membranous glomerulopathy with maternal neutral endopeptidase deficiency
Congenital membranous nephropathy due to maternal anti-neutral endopeptidase (NEP) alloimmunization (CMNEPA) is a glomerular disease characterized by severe renal failure and nephrotic syndrome at birth, which rapidly improve in the first weeks of life.
Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization
SGLT2 deficiency
Familial renal glucosuria
Malignant rhabdoid tumor
Rhabdoid tumor (RT) is an aggressive pediatric soft tissue sarcoma that arises in the kidney, the liver, the peripheral nerves and all miscellaneous soft-parts throughout the body. RT involving the central nervous system (CNS) is called atypical teratoid rhabdoid tumor (ATRT; see this term).
Rhabdoid tumor
Liposarcoma (LS), a type of soft tissue sarcoma, describes a group of lipomatous tumors of varying severity ranging from slow-growing to aggressive and metastatic. Liposarcomas are most often located in the lower extremities or retroperitoneum, but they can also occur in the upper extremities, neck, peritoneal cavity, spermatic cord, breast, vulva and axilla.
Liposarcoma
OTUDP syndrome
Odonto-tricho-ungual-digito-palmar syndrome, Mendoza-Valiente type
Odonto-tricho-ungual-digito-palmar syndrome is characterised by neonatal teeth, trichodystrophy and malformations of the hands and feet. To date, it has been reported in 21 patients and is transmitted as an autosomal dominant trait.
Odonto-tricho-ungual-digito-palmar syndrome
Ectodermal dysplasia with natal teeth, Turnpenny type is characterised by hypo- or oligodontia and acanthosis nigricans. It has been described in four generations of one family. Onset generally occurs during adolescence. Some patients were born with multiple teeth. Hair anomalies (sparse body and scalp hair) were also reported. Inheritance is autosomal dominant.
Ectodermal dysplasia with natal teeth, Turnpenny type
HNED
Hair-nail ectodermal dysplasia
PHNED
Pure hair and nail ectodermal dysplasia is characterised by the association of onychodystrophy and severe hypotrichosis, which is mainly limited to the scalp but may also affect the eyelashes and eyebrows. Less than 20 cases have been reported so far. The mode of transmission is autosomal dominant.
Pure hair and nail ectodermal dysplasia
LMS
Limb-mammary syndrome (LMS) is a rare disease belonging to the group of ectodermal dysplasias.
Limb-mammary syndrome
NFJ syndrome
Naegeli syndrome
Naegeli-Franceschetti-Jadassohn (NFJ) syndrome is a rare ectodermal dysplasia that affects the skin, sweat glands, nails, and teeth.
Naegeli-Franceschetti-Jadassohn syndrome
OL-EDA-ID
This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia.
Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome
Anonychia with flexural pigmentation is characterised by anonychia and skin abnormalities (hyper- and hypopigmentation in axillae and groins, dry palmar and plantar skin leading to sore and cracked soles). It has been described in a mother and her two children. The mode of transmission is autosomal dominant.
Anonychia with flexural pigmentation
FRA
Familial recurrent arthritis
PAPA syndrome
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome is a rare pleiotropic autoinflammatory disorder of childhood, primarily affecting the joints and skin.
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
ABCB4 gene mutation-associated cholelithiasis
Cholelithiasis with ABCB4 gene mutation
LPAC
Low phospholipid associated cholelithiasis is a rare genetic hepatic disease characterized by cholesterol gallstones and intrahepatic stones developing before the age of 40 years.
Low phospholipid associated cholelithiasis
Gravidic intrahepatic cholestasis
Pregnancy-related cholestasis
Recurrent intrahepatic cholestasis of pregnancy
Intrahepatic cholestasis of pregnancy (ICP) is a cholestatic disorder characterized by (i) pruritus with onset in the second or third trimester of pregnancy, (ii) elevated serum aminotransferases and bile acid levels, and (iii) spontaneous relief of signs and symptoms within two to three weeks after delivery.
Intrahepatic cholestasis of pregnancy
Tyrosinemia due to 4-hydroxyphenylpyruvate dioxygenase deficiency
Tyrosinemia due to 4-hydroxyphenylpyruvic acid oxidase deficiency
Tyrosinemia due to HPD deficiency
Tyrosinemia type III
Tyrosinemia type 3 is an inborn error of tyrosine metabolism characterised by mild hypertyrosinemia and increased urinary excretion of 4-hydroxyphenylpyruvate, 4-hydroxyphenyllactate and 4-hydroxyphenylacetate.
Tyrosinemia type 3
Hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome
Hypotrichosis - lymphedema - telangiectasia is an extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms.
Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
BADI
Bilateral acute depigmentation of the iris (BADI) is characterized by acute onset of bilateral iris depigmentation, pigment dispersion in the anterior chamber, and heavy pigment deposition in the anterior chamber angle. Patients typically present with acute and usually severe photophobia, blurred vision, red eye, and ocular discomfort or pain with a usually self-limiting clinical course. Cases often occur after a flu-like illness, upper respiratory tract infection, and after the use of oral moxifloxacin. When associated with iris epithelial depigmentation, iris transillumination defects and atonic/mydriatic pupil, the condition is referred to as bilateral acute iris transillumination (BAIT) which has an increased risk of severe intractable rise in intraocular pressure.
Bilateral acute depigmentation of the iris
gene (7p15.2) and is transmitted in an autosomal recessive manner. The syndrome overlaps clinically and genetically with Athabaskan brain dysfunction syndrome (ABDS,). However unlike ABDS, BSAS does not manifest central hypoventilation.
Bosley-Salih-Alorainy syndrome
ABSD
Athabascan brainstem dysgenesis syndrome
Navajo brainstem syndrome
Ahabaskan brainstem dysgenesis is characterised by deafness, central hypoventilation, congenital ocular paralysis and developmental retardation. Cardiac anomalies and paralysis of the vocal chords may also be present. Six cases have been reported so far. Transmission is thought to be autosomal recessive.
Athabaskan brainstem dysgenesis syndrome
Circumscribed palmoplantar hypokeratosis is an ectodermal dysplasia characterised by circular, well-circumscribed patches of erythematous depressed skin.
Circumscribed palmoplantar hypokeratosis
Follicular dyskeratoma
Warty dyskeratoma
Pearson syndrome is characterized by refractory sideroblastic anemia, vacuolization of bone marrow precursors and exocrine pancreatic dysfunction.
Pearson syndrome
Craniocerebellocardiac dysplasia
Ritscher-Schinzel syndrome
Cranio-cerebello-cardiac (3C) syndrome is a rare multiple congenital anomalies syndrome characterized by craniofacial (prominent occiput and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies (see these terms).
3C syndrome
SMA
Proximal spinal muscular atrophies are a group of neuromuscular disorders characterized by progressive muscle weakness resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.
Proximal spinal muscular atrophy
Alopecia totalis is a form of alopecia areata, an inflammatory disease of the hair follicle, characterized by a complete loss of hair of the entire scalp which becomes glabrous.
Alopecia totalis
Alopecia universalis is the most severe form of alopecia areata, an inflammatory disease of the hair follicle, which is characterized by a complete loss of hair of the scalp and all the hair-bearing areas of the body.
Alopecia universalis
Diffuse familial brain sclerosis
PMD
Pelizaeus-Merzbacher brain sclerosis
Sudanophilic leukodystrophy, Paelizeus-Merzbacher type
Pelizaeus-Merzbacher disease (PMD) is an X-linked leukodystrophy characterized by developmental delay, nystagmus, hypotonia, spasticity, and variable intellectual deficit. It is classified into three sub-forms based on the age of onset and severity: connatal, transitional, and classic PMD (see these terms).
Bullous pemphigoid (BP) is the most common form of autoimmune bullous dermatosis.
Bullous pemphigoid
Pemphigus is a group of chronic autoimmune skin diseases characterized by blister formations on the outer layer of the skin and the mucous membranes. Three clinical forms have been characterised, of which pemphigus vulgaris is the most frequent (75%).
Pemphigus vulgaris
HLP type 5
Major hyperlipidemia
Hyperlipoproteinemia type 5
COX deficiency, French-Canadian type
Cytochrome C oxidase deficiency, French-Canadian type
Cytochrome oxidase deficiency, Saguenay-Lac-Saint-Jean type
Leigh syndrome, French-Canadian type
Leigh syndrome, Saguenay-Lac-Saint-Jean type
SLSJ-COX deficiency
Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome (see this term), is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development.
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
Cardiomyopathy with hypotonia due to cytochrome C oxidase deficiency
Cardiomyopathy with myopathy due to COX deficiency
Leigh disease with myopathy
Leigh syndrome with cardiomyopathy
Radiation proctitis is a rare rectal disease directly induced by pelvic radiotherapy and characterized by rectal bleeding, change in bowel habits, tenesmus and sepsis.
Radiation proctitis
Spring catarrh
Vernal keratoconjunctivitis is a chronic (seasonal) allergic inflammation affecting the conjunctiva and cornea of the eye. It is most common in young boys and is characterised by red eyes, photophobia, itching and excessive tearing. It generally improves during adolescence.
Vernal keratoconjunctivitis
Esophageal carcinoma
Esophageal carcinoma (EC) is a tumor arising in the epithelial cells lining the esophagus and can be divided into two subtypes: esophageal squamous cell carcinoma (ESCC) and esophageal adenocarcinoma (EAC).
Carcinoma of esophagus
Goiter-deafness syndrome
Pendred syndrome (PDS) is a clinically variable genetic disorder characterized by bilateral sensorineural hearing loss and euthyroid goiter.
Pendred syndrome
Bile duct cancer
CCA
Cholangiocarcinoma (CCA) is a biliary tract cancer (BTC, see this term) originating in the epithelium of the biliary tree, either intra or extra hepatic.
Cholangiocarcinoma
PTLD
Post-transplant lymphoproliferative disease (PTLD) describes a heterogeneous group of lymphoproliferative diseases occurring in the context of post-transplant immunosuppression and ranging from benign polyclonal B-cell proliferation to malignant lymphomas.
Post-transplant lymphoproliferative disease
SCLC
Small cell lung cancer (SCLC) is a highly aggressive malignant neoplasm, accounting for 10-15% of lung cancer cases, characterized byrapid growth, and early metastasis. SCLC usually manifests as a large hilar mass with bulky mediastinal lymphadenopathy presenting clinically with chest pain, persistent cough, dyspnea, wheezing, hoarseness, hemoptysis, loss of appetite, weight loss, and neurological and endocrine paraneoplastic syndromes. SCLC is primarily reported in elderly people with a history of long-term tobacco exposure.
Small cell lung cancer
Adult ARDS
Adult acute respiratory distress syndrome is a very severe form of acute pulmonary failure secondary to capillary permeability impairment. The symptoms include dyspnea, hypotension and multovisceral failure. The disease is characterized by bilateral pulmonary infiltrates and severe hypoxemia due to increased alveolar-capillary permeability. The severity depends on the degree of alveolar epithelial injury, with a mortality rate of 30-50%.
Adult acute respiratory distress syndrome
Hyaline membrane disease
Infant ARDS
Infant respiratory distress syndrome
Neonatal respiratory distress syndrome
Infant acute respiratory distress syndrome is a lung disorder that affects premature infants caused by developmental insufficiency of surfactant production and structural immaturity of the lungs. The symptoms usually appear shortly after birth and may include tachypnea, tachycardia, chest wall retractions (recession), expiratory grunting, nasal flaring and cyanosis during breathing efforts.
Infant acute respiratory distress syndrome
Meconium aspiration syndrome is a pulmonary complication appearing in newborns with a meconium-stained amniotic fluid. Aspirated meconium can interfere with normal breathing by several mechanisms including airway obstruction, chemical irritation, infection and surfactant inactivation and induces more or less severe signs of respiratory distress at birth.
Meconium aspiration syndrome
BPD
Bronchopulmonary dysplasia is a chronic respiratory disease that results from complications related to lung injury during the treatment of infant acute respiratory distress syndrome (see these terms) in low-birth-weight premature infants or from abnormal lung development in older infants. Clinical signs are tachypnea, tachycardia and signs of respiratory distress such as intercostal recession, grunting and nasal flaring.
Bronchopulmonary dysplasia
Apnea of infancy
Infantile apnea is a cessation of respiratory air flow that may affect newborns or older children because of neurological impairment of the respiratory rhythm or obstruction of air flow through the air passages. The symptoms include cyanosis, pallor or bradycardia and snoring in case of obstructive apnea.
Infantile apnea
CTEPH
Chronic thromboembolic pulmonary hypertension (CTEPH) is characterized by the persistence of thromboemboli in the form of organized tissue obstructing the pulmonary arteries. The consequence is an increase in pulmonary vascular resistance (PVR) resulting in pulmonary hypertension (PH) and progressive right heart failure.
Chronic thromboembolic pulmonary hypertension
IRAK4 deficiency
Interleukin-1 receptor-associated kinase-4 (IRAK-4) deficiency is an immunodeficiency associated with increased susceptibility to invasive infections caused by pyogenic bacteria.
Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency
Immunodeficiency due to selective anti-polysaccharide antibody deficiency is characterized by normal immunoglobulin levels (including IgG sub-classes) but impaired polysaccharide responsiveness (IPR).
Immunodeficiency due to selective anti-polysaccharide antibody deficiency
Autosomal recessive sepiapterin reductase-deficient DRD
DRD due to SRD
SPR deficiency
Sepiapterin reductase deficiency
Dopa-responsive dystonia (DRD) due to sepiapterin reductase deficiency (SRD) is a very rare neurometabolic disorder characterized by dystonia with diurnal fluctuations, axial hypotonia, oculogyric crises, and delays in motor and cognitive development.
Dopa-responsive dystonia due to sepiapterin reductase deficiency
SANDO
Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome is characterised by adult-onset severe sensory ataxic neuropathy, dysarthria and chronic progressive external ophthalmoplegia.
Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome
Antenatal EBV infection
Antenatal Epstein-Barr virus infection
Congenital EBV infection
Mother-to-child transmission of Epstein-Barr virus infection
Congenital Epstein-Barr virus (EBV) infection causes no clinical manifestations in the majority of infants. Indeed, the occurrence of congenital infection with EBV has never been demonstrated conclusively and must be very rare. One case have been reported to present after birth, multiple congenital anomalies (micrognathia, cryptorchidism, central cataracts), dystrophy, generalized hypotonia, hepatosplenomegaly, diffuse petechiae and hematomas and multiple areas of metaphysitis of the long bones at birth. A low birth weight was also reported. No specific follow-up of the fetus is recommended following maternal EBV primary-infection.
Congenital Epstein-Barr virus infection
Yersiniosis
Plague
Peters congenital glaucoma
Peters anomaly (PA) is a congenital corneal opacity disorder characterized by a central corneal leukoma that obstructs the pupil leading to visual loss as well as absence of the posterior corneal stroma and Descemet membrane.
Peters anomaly
Krause-Kivlin syndrome
Krause-van Schooneveld-Kivlin syndrome
Peters anomaly with short limb dwarfism
Peters plus syndrome is an autosomal recessively inherited syndromic developmental defect of the eye (see this term) characterized by a variable phenotype including Peters anomaly (see this term) and other anterior chamber eye anomalies, short limbs, limb abnormalities (i.e. rhizomelia and brachydactyly), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate, and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys) and congenital hypothyroidism.
Peters plus syndrome
Anderson disease
CMRD
Chylomicron retention disease (CRD) is a type of familial hypocholesterolemia characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and hepatic, neurologic and ophthalmologic complications.
Chylomicron retention disease
ACS5
Acrocephalosyndactyly type 5
Pfeiffer syndrome (PS) is a common form of acrocephalosyndactyly (see this term), a group of inherited congenital malformation disorders, characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations and various other associated manifestations.
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_319646 with label: PGM1-CDG
Glycogen storage disease due to phosphoglucomutase deficiency
Rare pulmonary hypertension
Glucosephosphate isomerase (GPI) deficiency is an erythroenzymopathy characterized by chronic nonspherocytic hemolytic anemia.
Hemolytic anemia due to glucophosphate isomerase deficiency
Rare bleeding disorder due to a constitutional platelet anomaly
Rare bleeding disorder due to a constitutional thrombopathy and/or thrombocytopenia
Rare coagulopathy due to a constitutional platelet anomaly
Rare coagulopathy due to a constitutional thrombopathy and/or thrombocytopenia
Rare hemorrhagic disorder due to a constitutional thrombopathy and/or thrombocytopenia
Rare hemorrhagic disorder due to a constitutional platelet anomaly
Autoimmune thrombocytopenia
Rare mesenchymal tumor
Rare soft tissue tumor
Devic disease
Neuromyelitis optica (NMO) and NMO spectrum disorders are inflammatory demyelinating diseases of the central nervous system characterized mainly by attacks of uni- or bilateral optic neuritis (ON) and acute myelitis.
Neuromyelitis optica
Hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
Hyperinsulinism due to SCHAD deficiency
Hyperinsulinism due to glutamodehydrogenase deficiency
SCHAD deficiency
Hyperinsulinism due to short chain 3 hydroxylacyl-CoA dehydrogenase (SCHAD) deficiency is a recently described mitochondrial fatty acid oxidation disorder characterized by hyperinsulinemic hypoglycemia with seizures, and in one case fulminant hepatic failure.
Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
Retinal cavernous hemangioma is a rare, benign, usually unilateral retinal vascular hamartoma that in most cases is asymptomatic but in some patients may present with blurred vision or floaters and that is characterized by the presence of grape-like vacuoles.
Retinal capillary malformation
Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome is characterised by the association of dentinogenesis imperfecta, delayed tooth eruption, facial dysmorphology, small stature, sensorineural hearing loss and mild intellectual deficit. It has been described in two brothers born to consanguineous parents. Transmission is autosomal recessive.
Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome
use http://www.orpha.net/ORDO/Orphanet_101949 with label: OBSOLETE: Rare acquired eye disease
use http://www.orpha.net/ORDO/Orphanet_77300 with label: Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome
OBSOLETE: Auriculoocular anomalies-cleft lip syndrome
Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation (SHFM; see this term) and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit.
Split hand-split foot-deafness syndrome
Sandifer syndrome is a paroxysmal dystonic movement disorder occurring in association with gastro-oesophageal reflux, and, in some cases, hiatal hernia.
Sandifer syndrome
Left renal vein entrapment syndrome
RNS
1 mmHg). The thin septae between the veins and the collecting system in the renal fornices rupture, with resultant left sided haematuria.
Renal nutcracker syndrome
DPL
Diffuse peritoneal leiomyomatosis
LPD
Leiomyomatosis peritonealis disseminate
Disseminated peritoneal leiomyomatosis (DPL) is characterized by the proliferation of multiple benign smooth muscle cell-containing nodules in the peritoneal cavity.
Disseminated peritoneal leiomyomatosis
Rh-null syndrome
Rh deficiency syndrome
Imploding antrum syndrome
Silent sinus syndrome is characterised by adult-onset progressive enophthalmos due to collapse of some or all of the maxillary sinus walls.
Silent sinus syndrome
De Vivo disease
Glucose transporter type 1 deficiency
Glut-1 deficiency syndrome
Glut1-DS
Glucose transporter type 1 (GLUT1) deficiency syndrome is characterized by an encephalopathy marked by childhood epilepsy that is refractory to treatment, deceleration of cranial growth leading to microcephaly, psychomotor retardation, spasticity, ataxia, dysarthria and other paroxysmal neurological phenomena often occurring before meals. Symptoms appear between the age of 1 and 4 months, following a normal birth and gestation.
Encephalopathy due to GLUT1 deficiency
Inherited GS deficiency
Inherited glutamine synthetase deficiency
Congenital brain dysgenesis due to glutamine synthetase deficiency
Chronic ataxic neuropathy-ophthalmoplegia-IgM paraprotein-cold agglutinins-disialosyl antibodies syndrome
Chronic sensory ataxic neuropathy with anti-dyalosyl IgM antibodies
CANOMAD syndrome (Chronic Ataxic Neuropathy, Ophthalmoplegia, Monoclonal IgM protein, cold Agglutinins and Disialosyl antibodies) is a rare chronic immune-mediated demyelinating polyneuropathy.
CANOMAD syndrome
Rare central nervous system and retinal vascular disease
ATRUS syndrome
gene (7p15).
Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome
FPD/AML syndrome
FPS/AML syndrome
Familial platelet disorder with associated myeloid malignancy
Familial platelet syndrome with predisposition to acute myelogenous leukemia
Familial platelet disorder with predisposition to acute myelogenous leukemia (FPD/AML) is characterised by moderate thrombocytopenia, abnormal platelet function and the propensity to develop myeloid malignancies, in particular AML.
Hereditary thrombocytopenia with normal platelets-hematological cancer predisposition syndrome
GSD due to phosphoglycerate kinase 1 deficiency
Glycogenosis due to phosphoglycerate kinase 1 deficiency
Phosphoglycerate kinase (PGK) deficiency is a metabolic disorder characterized by variable combinations of nonspherocytic hemolytic anemia, myopathy, and various central nervous system abnormalities.
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
Hemolytic anemia due to diphosphoglycerate mutase deficiency
Familial thrombocythemia
Hereditary thrombocythemia
Familial thrombocytosis is a type of thrombocytosis, a sustained elevation of platelet numbers, which affects the platelet/megakaryocyte lineage and may create a tendency for thrombosis and hemorrhage but does not cause myeloproliferation.
Familial thrombocytosis
GSD due to muscle phosphorylase kinase deficiency
GSD type 9D
GSD type 9E
GSD type IXd
GSD type IXe
Glycogen storage disease type 9D
Glycogen storage disease type 9E
Glycogen storage disease type IXd
Glycogen storage disease type IXe
Glycogenosis due to muscle phosphorylase kinase deficiency
Glycogenosis type 9D
Glycogenosis type 9E
Glycogenosis type IXd
Glycogenosis type IXe
Glycogen storage disease due to muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by exercise intolerance.
Glycogen storage disease due to muscle phosphorylase kinase deficiency
CAR syndrome
Paraneoplastic retinopathy
Cancer associated retinopathy (CAR) is a paraneoplastic disease of the eye associated with the presence of extraocular malignancy and circulating autoantibodies against retinal proteins.
Cancer-associated retinopathy
use http://www.orpha.net/ORDO/Orphanet_68363 with label: Rare dystonia
DYT12
Dystonia 12
Rapid-onset dystonia-parkinsonism (RDP) is a very rare movement disorder, characterized by the abrupt onset of parkinsonism and dystonia, often triggered by physical or psychological stress.
Rapid-onset dystonia-parkinsonism
Benign paroxysmal torticollis of infancy (BPTI) is a rare functional disorder characterised by recurrent episodes of torticollic posturing of the head (inclination or tilting of the head to one side) in healthy children.
Benign paroxysmal torticollis of infancy
Psychogenic dystonia
Psychogenic movement disorders (PMD) are movement disorders that cannot be attributed to any known structural or neurochemical diseases, but represent the manifestation of an underlying psychiatric illness or malingering. Most cases of PMD fall in the psychiatric diagnostic category of conversion disorders of the motor subtype.
Psychogenic movement disorders
POMC deficiency
Pro-opiomelanocortin (POMC) deficiency is a form of monogenic obesity resulting in severe early-onset obesity, adrenal insufficiency, red hair and pale skin.
Obesity due to pro-opiomelanocortin deficiency
PCI deficiency
Prohormone convertase-I deficiency is the rarest form of monogenic obesity. The disorder is characterised by severe childhood obesity, hypoadrenalism, reactive hypoglycaemia, and elevated circulating levels of certain prohormones.
Obesity due to prohormone convertase I deficiency
MC4R deficiency
Melanocortin 4 receptor (MC4R) deficiency is the commonest form of monogenic obesity identified so far. MC4R deficiency is characterised by severe obesity, an increase in lean body mass and bone mineral density, increased linear growth in early childhood, hyperphagia beginning in the first year of life and severe hyperinsulinaemia, in the presence of preserved reproductive function.
Obesity due to melanocortin 4 receptor deficiency
PAH deficiency
PKU
Phenylalanine hydroxylase deficiency
Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism and is characterized by mild to severe mental disability in untreated patients.
Phenylketonuria
Catecholamine-producing tumors may arise in the adrenal medulla (pheochromocytomas) or in extraadrenal chromaffin cells (secreting paragangliomas).
Catecholamine-producing tumor
Isolated Pierre Robin sequence
Pierre-Robin syndrome (or Pierre-Robin sequence) is characterised by triad of orofacial morphological anomalies consisting of retrognathism, glossoptosis and a posterior median velopalatal cleft.
Isolated Pierre Robin syndrome
Rare genetic neurological disorder
Retinal dystrophy
Inherited retinal disorder
Muscular channelopathy
use http://www.orpha.net/ORDO/Orphanet_1410 with label: Uncombable hair syndrome
Angelman syndrome (AS) is a neurogenetic disorder characterized by severe intellectual deficit and distinct facial dysmorphic features.
Pili bifurcati is an uncommon transitory hair shaft dysplasia characterized by segmental duplication of the hair shaft: a ramification generates two parallel branches which fuse to form a single shaft again. Each branch is covered by its own cuticle.
Pili bifurcati
Alpha storage pool deficiency
GPS
Platelet alpha-granule deficiency
Gray platelet syndrome (GPS) is a rare inherited bleeding disorder characterized by macrothrombocytopenia, myelofibrosis, splenomegaly and typical gray appearance of platelets on Wright stained peripheral blood smear.
Gray platelet syndrome
Plasminogen deficiency type 1
Severe hypoplasminogenemia (HPG) or type 1 plasminogen (plg) deficiency is a systemic disease characterised by markedly impaired extracellular fibrinolysis leading to the formation of ligneous (fibrin-rich) pseudomembranes on mucosae during wound healing.
Hypoplasminogenemia
is an opportunistic infectious agent, developing in immunosuppressed patients. It is an air-borne infection, localised to the lungs. However, extrapulmonary involvement is seen in AIDS patients. The disease manifests progressively with coughing, respiratory problems (dyspnea) and fever, followed by acute respiratory insufficiency and death within a few weeks in untreated cases. The most reliable diagnostic method is bronchoalveolar lavage. The treatment of choice is cotrimoxazole.
Pneumocystosis
IAEP
Idiopathic acute eosinophilic pneumonia (IAEP) is an eosinophilic pneumonia of undetermined etiology that is characterized by acute febrile hypoxic respiratory failure associated with diffuse radiographic infiltrates and pulmonary eosinophilia, but without concurring allergy or infection.
Idiopathic acute eosinophilic pneumonia
CSWS
CSWSS syndrome
Continuous spikes and waves during slow-wave sleep
Epileptic encephalopathy with continuous spike-and-wave during slow sleep
Continuous spikes and waves during sleep (CSWS) is a rare epileptic encephalopathy of childhood characterized by seizures, an electroencephalographic (EEG) pattern of electrical status epilepticus in sleep (ESES) and neurocognitive regression in at least 2 domains of development.
Continuous spikes and waves during sleep
Alpers progressive sclerosing poliodystrophy
Alpers syndrome
Progressive neuronal degeneration of childhood with liver disease
Alpers Huttenlocher syndrome (AHS) is a cerebrohepatopathy and a rare and severe form of mitochondrial DNA (mtDNA) depletion syndrome characterized by the triad of progressive developmental regression, intractable seizures, and hepatic failure.
Alpers-Huttenlocher syndrome
MPA
Micropolyangiitis
Microscopic polyarteritis
Microscopic polyangiitis (MPA) is an inflammatory, necrotizing, systemic vasculitis that affects predominantly small vessels (i.e. small arteries, arterioles, capillaries, venules) in multiple organs.
Microscopic polyangiitis
Relapsing polychondritis (RP) is a rare, clinically heterogeneous, multisystemic inflammatory disease characterized by inflammation of the cartilage and proteoglycan rich structures leading to cartilage damage with joint, ocular and cardiovascular involvement.
Relapsing polychondritis
Acquired primary erythrocytosis
Osler-Vaquez disease
Polycythemia rubra vera
Vaquez disease
Polycythemia vera (PV) is an acquired myeloproliferative disorder characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production, frequently associated with uncontrolled white blood cell and platelet production.
Polycythemia vera
Gorham disease
Gorham syndrome
Idiopathic massive osteolysis
Progressive massive osteolysis
Vanishing bone disease
Gorham-Stout disease (GSD) is a rare disease of massive osteolysis associated with proliferation and dilation of lymphatic vessels. GSD may affect any bone in the body and can be monostotic or polyostotic. Symptoms at presentation are dependent upon the location(s) of the disease; the most common symptom is localized pain. The disease may be discovered after a pathological fracture.
Gorham-Stout disease
ADPKD
Autosomal dominant polycystic kidney disease
Intractable diarrhoea of infancy (IDI) is a heterogeneous syndrome that includes several diseases with different aetiologies. Provisional classification of IDI, according to villous atrophy and based on immunohistological criteria, distinguishes two clearly different groups of IDI: 1) Immune-mediated: characterised by a mononuclear cell infiltration of the lamina propria and considered as being related to T cell activation. 2) The second histological pattern includes early onset severe intractable diarrhoea histologically characterised by villous atrophy with low or without mononuclear cell infiltration of the lamina propria but specific histological abnormalities involving the epithelium.
Intractable diarrhea of infancy
AR-PKD
Autosomal recessive polycystic kidney disease (ARPKD) is an inherited disorder characterised by the development of cysts affecting the collecting ducts. It is frequently associated with hepatic involvement.
Autosomal recessive polycystic kidney disease
Polymyositis (PM) is a rare idiopathic inflammatory myopathy characterized by symmetric proximal muscle weakness and elevated muscle enzymes.
Polymyositis
Aplasia of the Müllerian ducts
Müllerian duct failure
Müllerian aplasia
Mental retardation-hypotonic facies covers a group of X-linked syndromes characterized by severe intellectual deficit and facial dysmorphism, with variable other features.
X-linked intellectual disability-hypotonic face syndrome
This syndrome is characterised by the association of global developmental delay, osteopenia and skin anomalies.
Global developmental delay-osteopenia-ectodermal defect syndrome
Tubular renal disease-cardiomyopathy syndrome is characterised by hypokalaemic metabolic alkalosis secondary to a tubulopathy, hypomagnesaemia with hypermagnesuria, severe hypercalciuria and dilated cardiomyopathy.
Tubular renal disease-cardiomyopathy syndrome
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome is characterised by the association of hematuria (without proteinuria) with extrarenal manifestations: retinal arterial tortuosities responsible for retinal haemorrhages, cardiac arrhythmia, Raynaud phenomena and congenital muscular contractures.
HANAC syndrome
Ossification anomalies-psychomotor developmental delay syndrome is characterised by hypomineralisation of the cranial bones, thoracic dystrophy, hypotonia, and abnormal and slender long bones due to an alteration in remodelling during ossification.
Ossification anomalies-psychomotor developmental delay syndrome
) or androgen receptor genes.
Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome
Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome is characterised by facial dysmorphology, neuropathic visceral dysmotility, neurogenic megacystis, intracerebral calcifications and developmental delay. It has been described in two siblings (brother and sister) born to consanguineous parents. The girl also had microcephaly and multicystic kidneys. The boy had a more extensive neuropathic visceral disorder, leading clinically to chronic intestinal pseudo-obstruction syndrome (CIPO).
Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome
EoE
Eosinophilic esophagitis (EoE) is a chronic, allergic disease of the esophagus characterized clinically by symptoms of esophageal dysfunction (including vomiting, dysphagia, feeding disorders, food impaction and abdominal pain) which persist after treatment with proton pump inhibitors (PPIs).
Eosinophilic esophagitis
Central neurocytoma is a very rare brain tumor of young adults (over 100 cases reported worldwide). It is typically found in the lateral ventricles and occasionally in the third ventricle. Symptoms are those of increased intracranial pressure: headache, nausea and vomiting, drowsiness, vision problems and mental changes. Total removal of the tumor is the therapy of choice. Post-operative prognosis is generally good.
Central neurocytoma
Paracoccidioidomycosis
Mucormycosis
Zygomycosis
Hypernychthemeral syndrome
Non-24-hour sleep-wake disorder (non-24 disorder), also known as hypernychthemeral syndrome, is a circadian rhythm sleep disorder characterized by non-synchronization to a 24-hour day leading to insomnia and daytime sleepiness with sometimes severe associated manifestations.
Non-24-hour sleep-wake syndrome
Bleeding diathesis due to a collagen receptor defect is a rare, genetic coagulation disorder characterized by a mild to moderate bleeding tendency due to impaired platelet activation and aggregation in response to collagen, or impaired platelet-vessel wall interaction, resulting from a collagen receptor defect. Patients manifest with ecchymoses, epistaxis, menorrhagia, and/or post-traumatic and post-surgery bleeding complications. Laboratory analysis reveals prolonged bleeding time and, occasionally, mild thrombocytopenia.
Bleeding diathesis due to a collagen receptor defect
Growth delay-deafness- intellectual disability syndrome
IGF-1 deficiency
Primary insulin-like growth factor deficiency
Growth delay due to insulin-like growth factor I deficiency is characterised by the association of intrauterine and postnatal growth retardation with sensorineural deafness and intellectual deficit.
Growth delay due to insulin-like growth factor type 1 deficiency
Resistance to IGF-1
Growth delay due to IGF-I resistance is characterised by variable intrauterine and postnatal growth retardation and elevated serum IGF-I levels. Addition features include variable degrees of intellectual deficit, microcephaly and dysmorphism (broad nasal bridge and tip, smooth philtrum, thin upper and everted lower lips, short fingers, clinodactyly, wide-set nipples and pectus excavatum).
Growth delay due to insulin-like growth factor I resistance
Acquired hemophilia A (AHA) is a rare,often severe, hematological autoimmune disorder characterized by spontaneous hemorrhages into the skin, muscles, soft tissues,or mucous membranes.
Acquired hemophilia
Colorectal adenomatous polyposis
FAP
Familial polyposis coli
Familial adenomatous polyposis (FAP) is characterized by the development of hundreds to thousands of adenomas in the rectum and colon during the second decade of life.
Familial adenomatous polyposis
Alpha dense granule deficiency
Combined alpha-delta platelet storage pool deficiency
Alpha delta granule deficiency
Acute intoxication by Blighia sapida
Jamaican vomiting sickness
Jamaican vomiting syndrome
Acute ackee fruit intoxication (also referred to as Jamaican vomiting syndrome or sickness) is caused by the ingestion of unripe Blighia sapida fruits. It is a serious intoxication that is frequent in certain countries in the Caribbean and Western Africa. In contrast, it is rare in France and other Western countries. Intoxication leads to toxic hypoglycaemia and inhibition of neoglucogenesis. The hypoglycaemia is caused by the effect of hypoglycin A, which is found in the arils.
Acute ackee fruit intoxication
Porokeratosis of Mibelli (PM) is a form of porokeratosis that is characterized by the presence of brown single or multiple annular plaques of varying size, that are sometimes confluent, with a distinctive sharply-defined keratotic border.
Porokeratosis of Mibelli
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_79502 with label: Punctate palmoplantar keratoderma type 2
Palmar, plantar and disseminated porokeratosis
Porokeratosis plantaris palmaris et disseminata (PPPD) is a rare form of porokeratosis occurring mainly in adolescence and characterized by small pruritic or painful keratotic papules that first appear on the palms and soles, and may gradually become generalized.
Porokeratosis plantaris palmaris et disseminata
Porphyrias constitute a group of eight hereditary metabolic diseases characterized by intermittent neuro-visceral manifestations, cutaneous lesions or by the combination of both.
Porphyria
Prader-Labhart-Willi syndrome
Willi-Prader syndrome
Prader-Willi syndrome is a rare genetic disorder characterized by hypothalamic-pituitary abnormalities with severe hypotonia during the neonatal period and first two years of life and the onset of hyperphagia with a risk of morbid obesity during infancy and adulthood, learning difficulties and behavioral problems or severe psychiatric problems.
Prader-Willi syndrome
and that is acquired by the ingestion of the infective larvae on vegetables or in raw or undercooked snails, slugs, land crabs, freshwater shrimps, frogs and lizards. The main feature is eosinophilic meningitis, with clinical manifestations including fever, headache, malaise, fatigue, vomiting, rhinorrhea, blurred vision, diplopia, cough, stiff neck, enteritis, constipation and paraesthesia due to the movement of the worms from the intestines to the lungs, central nervous system and eyes. In severe cases without treatment, coma and death can occur.
Angiostrongyliasis
Progeria
Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat).
Familial mitral valve prolapse
Hyperimidodipeptiduria
Prolidase deficiency is an inherited disorder of peptide metabolism characterized by severe skin lesions, recurrent infections (involving mainly the skin and respiratory system), dysmorphic facial features, variable cognitive impairment, and splenomegaly.
Prolidase deficiency
Autosomal recessive thrombophilia due to congenital protein S deficiency
Congenital protein S deficiency is an inherited coagulation disorder characterized by recurrent venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein S.
Severe hereditary thrombophilia due to congenital protein S deficiency
Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome
Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems.
Proteus syndrome
Autosomal recessive thrombophilia due to PC deficiency
Autosomal recessive thrombophilia due to congenital protein C deficiency
Congenital protein C deficiency is an inherited coagulation disorder characterized by deep venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein C.
Severe hereditary thrombophilia due to congenital protein C deficiency
TFP deficiency
TFPD
Mitochondrial trifunctional protein (TFP) deficiency (TFPD) is a disorder of fatty acid oxidation characterized by a wide clinical spectrum ranging from severe neonatal manifestations including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a mild phenotype with peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy..
Mitochondrial trifunctional protein deficiency
Autoimmune PAP
Idiopathic PAP
Idiopathic pulmonary alveolar proteinosis
aPAP
iPAP
Pulmonary alveolar proteinosis (PAP) is a rare lung disease characterized by the accumulation of a lipoproteinaceous substance in the distal air spaces which positively stains with periodic acid-Schiff (PAS).
Autoimmune pulmonary alveolar proteinosis
Idiopathic infection caused by BCG or atypical mycobacteria
MSMD
Mendelian susceptibility to atypical mycobacteria
Mendelian susceptibility to mycobacterial infections
Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare immunodeficiency syndrome, characterized by a narrow vulnerability to poorly virulent mycobacteria, such as bacillus Calmette-Guérin (BCG) vaccines and environmental mycobacteria (EM), and defined by severe, recurrent infections, either disseminated or localized.
Mendelian susceptibility to mycobacterial diseases
Congenital prekallikrein deficiency
Pseudoachondroplastic dysplasia
Pseudoachondroplastic spondyloepiphyseal dysplasia
Pseudoachondroplasia is characterized by severe growth deficiency and deformations such as bow legs and hyperlordosis.
Pseudoachondroplasia
Myiasis
17-beta-hydroxysteroid dehydrogenase 3 deficiency
17-ketoreductase deficiency
17-ketosteroidreductase deficiency
17-beta-hydroxysteroid dehydrogenase isozyme 3 (17betaHSD III) deficiency is a rare disorder leading to male pseudohermaphroditism (MPH), a condition characterized by incomplete differentiation of the male genitalia in 46X,Y males.
46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
Wolman disease represents the most severe manifestation of lysosomal acid lipase deficiency. Milder phenotypes as a whole are referred to as cholesterol ester storage disease (see this term). The acid lipase enzyme plays an essential role in lysosomal hydrolysis of both esterified cholesterol and triglycerides of lipoproteic origin. In Wolman disease, the rarest form of acid lipase deficiency, these lipids accumulate in most tissues.
Cholesterol ester storage disease
Cholesteryl ester storage disease (CESD) is a very rare, late-onset, genetic endocrine disease characterized by deficient or inactive lysosomal acid lipase (LAL) causing lipid build-up, which leads to atherosclerosis, hepatomegaly, splenomegaly, progressive liver disease, and malabsorption.
Cholesteryl ester storage disease
Familial or idiopathic restrictive cardiomyopathy
Familial isolated restrictive cardiomyopathy
46,XY DSD due to 5-alpha-reductase 2 deficiency
Pseudovaginal perineoscrotal hypospadias
Steroid 5-alpha-reductase deficiency
46, XY disorder of sex development (DSD; see this term) due to 5-alpha-reductase 2 (SRD5A2) deficiency is a disorder of sex development due to a defect in testosterone (T) metabolism resulting in incomplete intrauterine masculinization. Patients present an ambiguous external genitalia which varies from a female with a blind vaginal pouch to a fully male phenotype with pseudovaginal posterior hypospadias (see this term) or only micropenis.
46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
Sclerosing dysplasia of bone-ichthyosis-premature ovarian failure syndrome
This syndrome is characterised by sclerosing bone dysplasia, ichthyosis vulgaris and premature ovarian failure. The bone disorder affects all metaphyseal-diaphyseal regions of the long bones, the skull, and the metacarpals.
Osteosclerosis-ichthyosis-premature ovarian failure syndrome
Retinal arteriolar tortuosity
Retinal hemorrhage with vascular tortuosity
Tortuosity of retinal arteries
Retinal arterial tortuosity
CAPE dystrophy
CAPED
Central areolar pigment epithelial dystrophy
Central retinal pigment epithelial dystrophy
MCDR1
NCMD
North Carolina macular dystrophy, retinal 1
Progressive foveal dystrophy
North Carolina macular dystrophy (NCMD) is a non-progressive autosomal dominant macular disorder of congenital or infantile onset characterized by loss of central vision, the accumulation of drusen in the macula and atrophy of photoreceptor cells with a variable phenotype at macular examination.
North Carolina macular dystrophy
CRAPB
PBCRA
Progressive bifocal chorioretinal atrophy (PBCRA) is an early-onset chorioretinal dystrophy characterized by large atrophic macular and nasal retinal lesions, nystagmus, myopia, poor vision, and slow disease progression.
Progressive bifocal chorioretinal atrophy
Prolonged electroretinal response suppression
Bradyopsia is characterised by prolonged electroretinal response suppression leading to difficulties adjusting to changes in luminance, normal to subnormal acuity and photophobia.
Bradyopsia
DHRD
Dominant drusen
Dominant radial drusen
Doyne honeycomb retinal dystrophy
Malattia leventinese
Familial drusen
Areolar atrophy of the macula
CACD
Central areolar choroidal sclerosis
Central areolar choroidal dystrophy (CACD) is a hereditary macular disorder, usually presenting between the ages of 30-60, characterized by a large area of atrophy in the centre of the macula and the loss or absence of photoreceptors, retinal pigment epithelium and choriocapillaris in this area, resulting in a progressive decrease in visual acuity.
Central areolar choroidal dystrophy
Oligocone syndrome
Oligocone trichromacy is a rare non-progressive form of cone photoreceptor dysfunction characterised by reduced visual acuity, normal retinal appearance, absent or reduced cone responses on electroretinography but normal colour vision.
Oligocone trichromacy
Autosomal dominant cystoid macular edema
DCMD
Familial macular edema
Cystoid macular dystrophy is an autosomal dominantly inherited cystoid macular edema manifesting with macular atrophy, strabismus and, sometimes, pericentral retinitis pigmentosa (see this term). It is associated with a poor visual prognosis.
Cystoid macular dystrophy
Congenital stationary night blindness, Oguchi type
Oguchi syndrome
Oguchi disease is an autosomal recessive retinal disorder characterized by congenital stationary night blindness (see this term) and the Mizuo-Nakamura phenomenon.
Oguchi disease
Goossens-Devriendt syndrome
Goossens-Devriendt syndrome is characterised by intrauterine growth retardation, a congenital heart defect, postaxial polydactyly, a brain malformation, abnormal hair with temporal balding, and marked facial dysmorphism. It has been reported in two siblings from unrelated parents. One of the siblings died and the surviving patient showed postnatal growth retardation and severe developmental delay.
Brain malformation-congenital heart disease-postaxial polydactyly syndrome
Primary immunodeficiency due to MCM4 deficiency
The primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency is characterised by a specific natural-killer (NK) cell deficiency and susceptibility to viral diseases. It has been described in four children from a large inbred kindred. Three out of the four children reported developed a viral illness. The mode of transmission is most likely autosomal recessive. The causative gene has been localised to within a 12-Mb region on chromosome 8p11.23-q11.21.
Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
EDS VIII
Ehlers-Danlos syndrome type 8
Ehlers-Danlos syndrome, periodontitis type
Androgen resistance syndrome
Goldberg-Maxwell syndrome
Morris syndrome
Testicular feminization syndrome
Androgen insensitivity syndrome (AIS) is a disorder of sex development (DSD) characterized by the presence of female external genitalia, ambiguous genitalia or variable defects in virilization in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS) (see these terms).
Androgen insensitivity syndrome
B4GALT7-CDG
Defective biosynthesis of proteodermatan sulfate
EDS, progeroid type
Galactosyltransferase I deficiency
XGPT deficiency
Xylosylprotein 4-beta-galactosyltransferase deficiency
Ehlers-Danlos syndrome, progeroid type (EDS-PF) is a form of Ehlers-Danlos syndrome characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars.
Ehlers-Danlos syndrome, progeroid type
EDS V
Ehlers-Danlos syndrome type 5
Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility. EDS type V is characterised by hyperextensible skin but tissue fragility and joint hyperlaxity are mild. This form of EDS is very rare and has been described in only two families so far. Other reported features include congenital heart disease, hernias and short stature. Transmission is X-linked recessive.
X-linked Ehlers-Danlos syndrome
46,XY DSD due to LH resistance or LHB deficiency
46,XY DSD due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency
46,XY disorder of sex development due to LH resistance or LHB deficiency
46,XY disorder of sex development due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency
Leydig cell hypoplasia
EDS X
Ehlers-Danlos syndrome type 10
Ehlers-Danlos syndrome with platelet dysfunction from fibronectin abnormality
Ehlers-Danlos syndrome, fibronectin-deficient
Ehlers-Danlos syndromes (EDS) form a heterogeneous group of inherited connective tissue disorders characterized by variable joint hypermobility and cutaneous hyperextensibility. Type X is distinguished by platelet dysfunction associated with a fibronectin abnormality. Type X EDS has been described in only one family so far. Age of onset is about 13-25 years. Transmission is autosomal recessive.
Ehlers-Danlos syndrome, fibronectinemic type
Phlebectatic osteohypoplastic angiodysplasia
Servelle-Martorell syndrome
Angioosteohypotrophic syndrome is a rare, congenital, vascular anomaly syndrome characterized by venous or, on occasion, arterial malformations which lead to soft tissue hypertrophy and bone hypoplasia. Affected limb is generally shortened, highly deformed, painful and edematous and associates bone and muscle hypotrophy. Single parts, or multiple small parts, of limbs are typically affected but more extensive involvement, including complete extremity, shoulder girdle and axilla, has been reported.
Angioosteohypotrophic syndrome
XLSA
X-linked sideroblastic anemia is a constitutional microcytic, hypochromic anemia of varying severity that is clinically characterized by manifestations of anemia and iron overload and that may respond to treatment with pyridoxine and folic acid.
X-linked sideroblastic anemia
AISA
Primary acquired sideroblastic anemia
RARS
Refractory anemia with ringed sideroblasts
Acquired idiopathic sideroblastic anaemia is one of a group of disorders known as the myelodysplastic syndromes (MDS) characterised by ineffective haemopoiesis affecting one or more blood cell lineages (myeloid, erythroid or megakaryocytic) leading to peripheral blood cytopenias and an increased risk of developing leukaemia. Acquired idiopathic sideroblastic anaemia is now more commonly referred to as refractory anaemia with ringed sideroblasts or the acronym RARS.
Acquired idiopathic sideroblastic anemia
Davies disease
TEMF
Tropical endomyocardial fibrosis is a restrictive cardiopathy, occuring almost exclusively in children and young adults in tropical and subtropical regions, characterized by endocardial fibrosis, affecting the apices and the inflow tract of the right or left ventricle (or both) and manifesting with a restrictive cardimyopathy and atrioventricular regurgitation leading to severe pulmonary hypertension, very high systemic venous pressure and congestive cardiac failure. Suspected etiologies include helminth and protozoal infestation and malnutrition.
Tropical endomyocardial fibrosis
Eosinophilic endocarditis
Loeffler's endocarditis is a rare restrictive cardiomyopathy (see this term) characterized by hypereosinophilia and fibrous thickening of the endocardium, with usually large thrombi against the ventricle walls, that can lead to cardiovascular complications such as heart failure and thromboembolism. It manifests with symptoms like edema, fatigue and shortness of breath. It is usually secondary to eosinophil-associated tissue damage and is associated with idiopathic hypereosinophilic syndrome, chronic eosinophilic leukemia (see these terms), carcinoma, or lymphoma.
Loeffler endocarditis
PPFG
Primary progressive freezing gait is a rare, heterogeneous, progressively incapacitating neurodegenerative disease characterized by freezing of gait (usually during the first 3 years), later associating postural instability, eventually resulting in a wheelchair-bound state. Other features may include mild bradykinesia, rigidity, postural tremor, hyperreflexia, speech disorder and dementia. The disease is unresponsive to dopaminergic treatments.
Primary progressive freezing gait
PHA type 1
Pseudohypoaldosteronism type 1 (PHA1) is a primary form of mineralocorticoid resistance presenting in the newborn with renal salt wasting, failure to thrive and dehydration.
Pseudohypoaldosteronism type 1
Chloride shunt syndrome
Familial hyperkalemic hypertension
Gordon hyperkalemia-hypertension syndrome
Hyperkalemia-hypertension syndrome, Gordon type
Hypertensive hyperkalemia
Mineralocorticoid resistant hyperkalemia
PHA2
PHAII
Spitzer-Weinstein syndrome
Pseudohypoaldosteronism type 2 (PHA2) is a rare inherited form of hypertension characterized by hyperkalemia, hyperchloremic metabolic acidosis, normal or elevated aldosterone, low renin, and normal renal function.
Pseudohypoaldosteronism type 2
Gronblad-Strandberg-Touraine syndrome
PXE
Pseudoxanthoma elasticum (PXE) is an inherited connective tissue disorder characterized by progressive calcification and fragmentation of elastic fibers in the skin, retina, and arterial walls.
Pseudoxanthoma elasticum
Scleroatonic muscular dystrophy
UCMD
Ullrich disease
Ullrich congenital muscular dystrophy (UCMD) is characterized by early-onset, generalized and slowly progressive muscle weakness, multiple proximal joint contractures, marked hypermobility of the distal joints and normal intelligence.
Congenital muscular dystrophy, Ullrich type
6q terminal deletion syndrome is marked by a characteristic facial dysmorphism, short neck and psychomotor retardation, generally associated with a range of non-specific malformations.
6q terminal deletion syndrome
Intellectual disability-truncal obesity-retinal dystrophy-micropenis syndrome
Mental retardation-truncal obesity-retinal dystrophy-micropenis syndrome
MORM syndrome is characterised by the association of intellectual deficit, truncal obesity, retinal dystrophy and micropenis. It has been described in 14 individuals from a consanguineous family. It is transmitted in an autosomal recessive manner. The causative locus has been mapped to chromosome region 9q34.
MORM syndrome
Gonadotropin-dependant precocious puberty
Central precocious puberty (CPP), also referred to as gonadotropin dependent precocious puberty, is an endocrine-related developmental disease characterized by the onset of pubertal changes, with development of secondary sexual characteristics and accelerated growth and bone maturation, before the normal age of puberty (8 years in girls and 9 years in boys).
Central precocious puberty
Anguilluliasis
Anguillulosis
(round worm).
Strongyloidiasis
PNP deficiency
PNPase deficiency
Purine nucleoside phosphorylase (PNP) deficiency is a disorder of purine metabolism characterized by progressive immunodeficiency leading to recurrent and opportunistic infections, autoimmunity and malignancy as well as neurologic manifestations.
Purine nucleoside phosphorylase deficiency
Anaphylactoid purpura
Henoch-Schönlein purpura
IgA vasculitis
Purpura rheumatica
Rheumatoid purpura
Schönlein-Henoch purpura (SHP) is a systemic IgA vasculitis that affects small vessels. It is characterized by skin purpura, arthritis, and abdominal and/or renal involvement.
Immunoglobulin A vasculitis
Pyknodysostosis
Pycnodysostosis is a genetic lysosomal disease characterized by osteosclerosis of the skeleton, short stature and brittle bones.
Pycnodysostosis
Myositis purulenta tropica
Myositis tropicans
Suppurative myositis
Tropical pyomyositis
Pyomyositis (PM) is a rare primary bacterial infection of the skeletal muscle, usually resulting from hematogenous spread or due to muscle injury, and characterized by pain and tenderness in the affected muscle, fever and abscess formation.
Pyomyositis
PDHC
Pyruvate dehydrogenase complex deficiency
Pyruvate dehydrogenase deficiency (PDHD) is a rare neurometabolic disorder characterized by a wide range of clinical signs with metabolic and neurological components of varying severity. Manifestations range from often fatal, severe, neonatal lactic acidosis to later-onset neurological disorders. Six subtypes related to the affected subunit of the PDH complex have been recognized with significant clinical overlap: PDHD due to E1-alpha, E1-beta, E2 and E3 deficiency, PDHD due to E3-binding protein deficiency, and PDH phosphatase deficiency (see these terms).
Pyruvate dehydrogenase deficiency
Pyruvate kinase deficiency of erythrocytes
Hemolytic anemia due to red cell pyruvate kinase (PK) deficiency is a metabolic disorder characterized by a variable degree of chronic nonspherocytic hemolytic anemia.
Hemolytic anemia due to red cell pyruvate kinase deficiency
Küssmaul-Maier disease
PAN
Periarteritis nodosa
Polyarteritis nodosa (PAN) is a rare, clinically heterogeneous, rheumatologic disease characterized by necrotizing inflammatory lesions affecting small- and medium-sized blood vessels. PAN most commonly affects skin, joints, peripheral nerves, the gut, and the kidney.
Polyarteritis nodosa
Congenital long QT syndrome
Congenital long QT syndrome (LQTS) is a hereditary cardiac disease characterized by a prolongation of the QT interval at basal ECG and by a high risk of life-threatening arrhythmias.
Familial long QT syndrome
Rabson-Mendenhall syndrome belongs to the group of extreme insulin-resistance syndromes (which also includes leprechaunism, the lipodystrophies, and the type A and B insulin resistance syndromes; see these terms).
Rabson-Mendenhall syndrome
Rabies is a viral zoonosis leading to a fatal encephalopathy if not treated.
Rabies
IRD
Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS; see this term), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD) (see this term).
Infantile Refsum disease
Primary lymphedema is a lymphatic system malformation characterized by swelling of an extremity that can be associated with other lymphatic effusions, due to an underlying developmental anomaly of the lymphatic system (abnormal lymphoangiogenesis). It can be hereditary or not and be congenital or late onset.
Primary lymphedema
Lipedema
Trichorhinophalangeal syndromes (TRPS) type 1 and 3 are malformation syndromes characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses, as well as severe generalized shortening of all phalanges, metacarpals and metatarsal bones.
Trichorhinophalangeal syndrome type 1 and 3
Non-cerebral juvenile Gaucher disease
Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD; see this term) characterized by organomegaly, bone involvement and cytopenia.
Gaucher disease type 1
Acute neuronopathic Gaucher disease
Infantile cerebral Gaucher disease
Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD; see this term). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2.
Gaucher disease type 2
Cerebral juvenile and adult form of Gaucher disease
Chronic neuronopathic Gaucher disease
Gaucher disease, subacute neuronopathic type
Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD; see this term) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1 (see this term).
Gaucher disease type 3
Niemann-Pick disease type A is a very severe subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in infancy or early childhood with failure to thrive, hepatosplenomegaly, and rapidly progressive neurodegenerative disorders.
Niemann-Pick disease type A
Niemann-Pick disease type B is a mild subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in childhood with hepatosplenomegaly, growth retardation, and lung disorders such as infections and dyspnea
Niemann-Pick disease type B
Dentoleukoencephalopathy
Leukodystrophy with oligodontia
Leukodystrophy with oligodontia is characterised by progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
Odontoleukodystrophy
Hyperostosis frontalis interna
Morgagni-Stewart-Morel syndrome is characterised by thickening of the inner table of the frontal bone, sometimes associated with obesity and hypertrichosis. It mainly affects women over 35 years of age. The prevalence and clinical significance of hyperostosis frontalis interna is unknown. Transmission is either X-linked or autosomal dominant.
Morgagni-Stewart-Morel syndrome
Chronic recurrent multifocal osteomyelitis-congenital dyserythropoietic anemia-neutrophilic dermatosis syndrome
Majeed syndrome is a rare genetic multisystemic disorder characterized by chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, which may be accompanied by neutrophilic dermatosis.
Majeed syndrome
MCOPS3
Syndromic microphthalmia type 3
Anophthalmia-esophageal atresia syndrome belongs to the group of syndromic microphthalmias and is characterized by the association of uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with or without trachoesophageal fistula.
Anophthalmia/microphthalmia-esophageal atresia syndrome
MCOPS10
MOBA syndrome
Syndromic microphthalmia type 10
Microphthalmia-brain atrophy (MOBA) syndrome is a rare genetic neurodegenerative disorder characterized by congenital microphthalmia, sunken eyes, blindness, microcephaly, severe intellectual disability, progressive spasticity, and seizures. Psychomotor development is normal in the first 6-8 months of life and thereafter declines rapidly and continuously. Brain MRI reveals progressive and extensive degenerative changes, especially cortex, cerebellum, brainstem, and corpus callosum atrophy, with complete loss of cerebral white matter.
Microphthalmia-brain atrophy syndrome
Adult Refsum disease
Classic Refsum disease
HMSN 4
Hereditary motor and sensory neuropathy type 4
Heredopathia atactica polyneuritiformis
Phytanic-CoA hydroxylase deficiency
Refsum disease (RD) is a very rare, clinically variable, multisystemic metabolic disease, characterized by anosmia, early-onset retinitis pigmentosa and possible neurological manifestations, including neuropathy, and cerebellar ataxia, deafness, ichthyosis, skeletal abnormalities, and cardiac arrhythmia. It is characterized biochemically by accumulation of phytanic acid in plasma and tissues.
The association of auricular abnormalities and cleft lip with or without cleft palate has been described in two siblings. One sibling had postauricular pits, profound myopia, nystagmus and retinal pigment abnormalities. The second sibling was a fetus (gestational age: 23 weeks) with severe cleft lip, cleft palate and external ear abnormalities.
Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome
Microdeletion 9q22.3
Interstitial 9q22.3 microdeletion is associated with a phenotype including macrocephaly, overgrowth and trigonocephaly. Psychomotor delay, hyperactivity and distinctive facial features were also observed. It has been described in two unrelated children.
Monosomy 9q22.3
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_1200 with label: Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome
OBSOLETE: Common variable immunodeficiency due to an intrinsic B cell defect
use http://www.orpha.net/ORDO/Orphanet_482072 with label: HTRA1-related cerebral small vessel disease
OBSOLETE: Not NOTCH3-related small vessel disease of the brain
Rendu-Osler disease
Rendu-Osler-Weber disease
Rendu-Osler-Weber disease, also called hereditary hemorrhagic telangiectasia (HHT), is a disorder of angiogenesis leading to arteriovenous dilatations: cutaneo-mucosal hemorrhagic telangiectasias and visceral shunting.
Hereditary hemorrhagic telangiectasia
OBSOLETE: X-linked intellectual disability, Martinez type
Lujan syndrome
Lujan-Fryns syndrome
The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems.
X-linked intellectual disability with marfanoid habitus
X-linked non-specific intellectual disability
X-linked non-syndromic intellectual disability
Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting the central nervous system.
Rett syndrome
Genetic obesity
Rare genetic odontologic disease
Primary biliary cirrhosis and systemic scleroderma
Reynolds syndrome (RS) is an autoimmune disorder characterized by the association of primary biliary cirrhosis (PBC) with limited cutaneous systemic sclerosis (lcSSc) (see these terms).
Reynolds syndrome
Ancylostomiasis
Hookworm infection
, usually acquired through penetration of the skin, (often asymptomatic but that can also manifest with an allergic reaction at the site of skin penetration), followed by the migration of larva through the bloodstream to the lungs (causing asymptomatic pneumonitis, eosinophilia) and finally reaching and colonizing the small intestines where they cause blood extravasation leading to diarrhea, abdominal pain, and when untreated, melena, iron-deficiency anemia and protein malnutrition.
Ankylostomiasis
Rhabdomyosarcoma is a malignant soft tissue tumor which develops from cells of striated muscle. It is the most common form of tumor found in children and adolescents.
Rhabdomyosarcoma
Coxiellosis
Infection due to Coxiella burnetii
Nine Mile fever
Quadrilateral fever
Query fever
, is a bacterial zoonosis with a wide clinical spectrum that can be life-threatening and, in some cases, can become chronic.
Q fever
Axenfeld syndrome
Rieger syndrome
Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies.
Axenfeld-Rieger syndrome
Broad thumb-hallux syndrome
Broad thumbs-halluces syndrome
Rubinstein-Taybi syndrome is a rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics.
Rubinstein-Taybi syndrome
Estrogen resistance syndrome is a rare, genetic endocrine disease characterized by estrogen-receptor insensitivity to estrogens and the presence of elevated estrogen and gonadotropin serum levels. Clinical manifestations include absent breast development and primary amenorrhea in association with multicystic ovaries and/or hypoplastic uterus in female patients, normal or abnormal gonadal development in male patients and markedly delayed bone maturation, persistence of open epiphyses, reduced bone mineral density, and variable tall stature in both sexes. Glucose intolerance, hyperinsulinemia and lipid abnormalities may also be present.
Estrogen resistance syndrome
Glucocorticoid resistance
Congenital alpha2 antiplasmin deficiency is a rare hemorrhagic disorder (see this term)caused by congenital deficiency of alpha2 antiplasmin, leading to dysregulated fibrinolysis and is characterized by a hemorrhagic tendency presenting from childhood with prolonged bleeding and ecchymoses following minor trauma and spontaneous bleeding episodes (often in unusual locations like diaphysis of long bones). Congenital alpha2 antiplasmin deficiency is inherited in an autosomal recessive manner.
Congenital alpha2-antiplasmin deficiency
Retinoblastoma (RB) is the most common intraocular malignancy in children. It is a life threatening neoplasia but is potentially curable. RB can be hereditary or non hereditary, unilateral or bilateral.
Retinoblastoma
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_300496 with label: Multiple congenital anomalies-hypotonia-seizures syndrome type 2
Disorder of amino acid and other organic acid metabolism
Infantile juvenile polyposis syndrome
Juvenile polyposis of infancy (JPI) is the most severe form of juvenile gastrointestinal polyposis (see this term) and is characterized by pancolonic hamartomatous polyposis from stomach to rectum, diagnosed in the first two years of life.
Juvenile polyposis of infancy
Chronic dacryoadenitis and sialadenitis
Mikulicz disease
IgG4-related dacryoadenitis and sialoadenitis (Mikulicz disease) is an IgG4-related sclerosing disease (see this term) characterized by persistent, usually painless, bilateral enlargement of the lacrimal, parotid, and submandibular glands associated with elevated levels of serum immunoglobulin (Ig) G4 and with lymphocyte and IgG4-positive plasmacyte infiltration. It predominantly causes mouth and eye dryness but can also affect other organs such as the lungs, liver, and kidneys, and be accompanied by complications such as autoimmune pancreatitis (AIP), retroperitoneal fibrosis, and tubulointerstitial nephritis (see these terms).
IgG4-related dacryoadenitis and sialadenitis
FPLD3
Familial partial lipodystrophy type 3
PPARG-related FPLD
PPARG-related familial partial lipodystrophy
FPLD1
Familial partial lipodystrophy type 1
Familial partial lipodystrophy, Köbberling type, is a very rare form of familial partial lipodystrophy (FPLD; see this term) of unknown etiology characterized by lipoatrophy that is confined to the limbs and a normal or increased fat distribution of the face, neck, and trunk. Arterial hypertension and diabetes have also been associated. Inheritance is thought to be autosomal dominant.
Familial partial lipodystrophy, Köbberling type
AKT2-related FPLD
AKT2-related familial partial lipodystrophy
Acquired lipoatrophic diabetes
Lawrence syndrome
Lawrence-Seip syndrome
Acquired generalized lipodystrophy belongs to a group of lipodystrophic syndromes characterized by loss of adipose tissue, and is a syndrome of insulin resistance that leads to increased cardiovascular risk. Acquired generalized lipodystrophy is related to a selective loss of subcutaneous adipose tissue occurring exclusively at the extremities (face, legs, arms, palms and sometimes soles).
Acquired generalized lipodystrophy
Barraquer-Simons syndrome
Progressive cephalothoracic lipodystrophy
Acquired partial lipodystrophy, or Barraquer-Simons syndrome, is characterised by the association of lipoatrophy of the upper part of the body and lipohypertrophy of the thighs.
Acquired partial lipodystrophy
Localised lipodystrophies are characterised by loss of subcutaneous tissue from small regions of the body.
Localized lipodystrophy
HIBM3
Hereditary inclusion body myopathy type 3
IBM3
Inclusion body myopathy type 3
Hereditary inclusion body myopathy type 3 is characterised by congenital joint contractures (normalizing during early childhood), external ophthalmoplegia, and proximal muscle weakness. In adult cases, the muscular weakness is progressive.
Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome
Angiodysgenetic necrotizing myelopathy
Familial osteosclerosis with abnormalities of the nervous system and meninges
Subacute angiohypertrophic myelomalacia
Subacute ascending necrotizing myelitis
Subacute necrotizing myelitis
Foix-Alajouanine syndrome, also called subacute ascending necrotising myelitis, results from chronic congestion of the extrinsic pial veins of the spinal cord and of the intrinsic subpial network. It is characterised by progressive ascending deficit over a period of several months or years.
Foix-Alajouanine syndrome
Grange occlusive arterial syndrome
Progressive arterial occlusive disease-hypertension-heart defects-bone fragility-brachysyndactyly syndrome
Grange syndrome is characterised by stenosis or occlusion of multiple arteries (including the renal, cerebral and abdominal vessels), hypertension, brachysyndactyly, syndactyly, increased bone fragility, and learning difficulties or borderline intellectual deficit. Congenital heart defects were also reported in some cases.
Grange syndrome
2-methylacyl-CoA racemase deficiency
AMACR deficiency
Alpha-methyl-acyl-CoA racemase deficiency
BASD4
Liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome
Congenital bile acid synthesis defect type 4 (BAS defect type 4) is an anomaly of bile acid synthesis (see this term) characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease.
Congenital bile acid synthesis defect type 4
PNPO deficiency
PNPO-related neonatal epileptic encephalopathy
Pyridoxal phosphate-dependent seizures
Pyridoxamine 5'-oxidase deficiency
Pyridoxamine 5'-phosphate oxidase deficiency
Pyridoxal phosphate-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by onset of severe seizures within hours of birth that are not responsive to anticonvulsants, but are responsive to treatment with pyridoxal phosphate.
Pyridoxal phosphate-responsive seizures
Folinic acid-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by myoclonic and clonic, or clonic seizures associated with apnea occurring several hours to 5 days after birth and responding to folinic acid.
Folinic acid-responsive seizures
Sympathetic uveitis
Sympathetic ophthalmia (SO) is a bilateral granulomatous anterior uveitis usually occurring within the three months following trauma or a surgical procedure involving one eye.
Sympathetic ophthalmia
Ackerman dermatitis syndrome
Ackerman syndrome
Interstitial granulomatous dermatitis with arthritis is a rare rheumatologic disease characterized by the occurrence of inflammatory arthritis in association with large, erythematous, symmetrical cutaneous lesions (ranging from typical, but infrequent, cord-like lesions on the flanks to more common violaceous plaques on the trunk and limbs) featuring a typical histologic infiltrate mainly constituted of histiocytes.
Interstitial granulomatous dermatitis with arthritis
Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades.
Retinitis pigmentosa
Folliculitis ulerythematosa reticulate
Atrophoderma vermiculata
Delta1-pyrroline-5-carboxylate dehydrogenase deficiency
Hyperprolinemia type 2 is an autosomal recessive proline metabolism disorder due to pyroline-5-carboxylate dehydrogenase deficiency. The condition is often benign but clinical signs may include seizures, intellectual deficit and mild developmental delay.
Hyperprolinemia type 2
Thyrotoxic hypokalemic periodic paralysis
Thyrotoxic periodic paralysis (TPP) is a rare neurological disease characterized by recurrent episodes of paralysis and hypokalemia during a thyrotoxic state.
Thyrotoxic periodic paralysis
Fibromyxosarcoma
Myxoid malignant fibrous histiocytoma
Myxofibrosarcoma
Eiken syndrome is a rare familial skeletal dysplasia characterized by multiple epiphyseal dysplasia, with extremely retarded ossification. It has been described in 6 members of a unique consanguineous family.
Eiken syndrome
Developmental malformations-deafness-dystonia syndrome is characterised by the association of midline malformations, sensory hearing loss, and a delayed-onset generalised dystonia syndrome.
Developmental malformations-deafness-dystonia syndrome
MFDM syndrome
Mandibulofacial dysostosis, Guion-Almeida type
Mandibulofacial dysostosis-microcephaly syndrome is a rare genetic multiple malformation disorder characterized by malar and mandibular hypoplasia, microcephaly, ear malformations with associated conductive hearing loss, distinctive facial dysmorphism, developmental delay, and intellectual disability.
Mandibulofacial dysostosis-microcephaly syndrome
encoding for the transcription factor GLI similar 3 seem to be responsible of the syndrome.
Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome
VODI syndrome
Hepatic veno-occlusive disease-immunodeficiency syndrome is characterized by the association of severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, absent tissue plasma cells and hepatic veno-occlusive disease.
Hepatic veno-occlusive disease-immunodeficiency syndrome
Acute interstitial pneumonitis
Hamman-Rich syndrome
Acute interstitial pneumonia (AIP), also referred to as Hamman-Rich syndrome, is a rapidly progressive and histologically distinct form of idiopathic interstitial pneumonia (see this term).
Acute interstitial pneumonia
RB-ILD
Respiratory bronchiolitis - interstitial lung disease is a mild inflammatory pulmonary disorder developed by cigarette smokers and characterized by shortness of breath and cough, pulmonary function abnormalities of mixed restrictive and obstructive lung disease and high resolution CT scanning showing centrilobular micronodules, ground glass opacities and peribronchiolar thickening.
Respiratory bronchiolitis-interstitial lung disease syndrome
Lymphocytic interstitial pneumonia
Lymphoid interstitial pneumonia
The association of amelogenesis imperfecta and a microscopically typical hair dysplasia has been found in several members of a family in two generations. Transmission is X-linked.
Trichodysplasia-amelogenesis imperfecta syndrome
Sparse hair-short stature-skin anomalies syndrome combines short stature, sparse hair, skin hyperpigmentation and urticaria-like reactions on the hands and arms. An upper central incisor, hypoplastic thumbs and/or palmoplantar hyperkeratosis may also be present. It is thought to be a rare form of ectodermal dysplasia and has been described at least once in a mother and her three sons. Transmission is autosomal dominant, or X-linked.
Sparse hair-short stature-skin anomalies syndrome
Bitemporal aplasia cutis congenita
Brauer syndrome
FFDD type I
FFDD1
Focal facial dermal dysplasia 1, Brauer type
Focal facial dermal dysplasia type 1
Focal facial dermal dysplasia type I (FFDD1), also known as Brauer syndrome, is a focal facial dysplasia (FFDD; see this term) characterized by congenital bitemporal cutis aplasia.
Focal facial dermal dysplasia type I
Developmental delay-epilepsy-neonatal diabetes syndrome
DEND syndrome is a very rare, generally severe form of neonatal diabetes mellitus (NDM, see this term) characterized by a triad of developmental delay, epilepsy, and neonatal diabetes.
DEND syndrome
Episodic ataxia-vertigo-tinnitus-myokymia syndrome
Episodic ataxia type 3 (EA3) is a very rare form of Hereditary episodic ataxia (see this term) characterized by vestibular ataxia, vertigo, tinnitus, and interictal myokymia.
Episodic ataxia type 3
PATX
Periodic vestibulocerebellar ataxia
Episodic ataxia type 4 (EA4) is a very rare form of Hereditary episodic ataxia (see this term) characterized by late-onset episodic ataxia, recurrent attacks of vertigo, and diplopia.
Episodic ataxia type 4
GEPD
gene (chromosome 10q22), encoding the alpha subunit of the BK channel. Transmission is autosomal dominant.
Generalized epilepsy-paroxysmal dyskinesia syndrome
Bickerstaff's brainstem encephalitis (BBE) is a rare post-infectious neurological disease characterized by the association of external ophthalmoplegia, ataxia, lower limb arreflexia, extensor plantar response and disturbance of consciousness (drowsiness, stupor or coma).
Bickerstaff brainstem encephalitis
a disease due to a virus transmitted by an arthropod).
Japanese encephalitis
MCC
Merkel cell carcinoma
Cutaneous neuroendocrine carcinoma is a primary cutaneous cancer arising from a subset of skin neuroendocrine cells (Merkel cells, giving the name Merkel cell carcinoma (MCC)).
Cutaneous neuroendocrine carcinoma
Keratosis palmoplantaris nummularis
PPK nummularis
Plamoplantar hyperkeratosis nummularis
Plamoplantar keratoderma nummularis
Hereditary painful callosities is a nummular palmoplantar keratoderma characterized by the development of painful keratotic lesions over pressure points in hands and feet. A few families have been described. Transmission is autosomal dominant. Successful analgesia can be obtained with tretinoin.
Hereditary painful callosities
Isolated anonychia
Isolated congenital anonychia is characterized by nail abnormalities ranging from onychodystrophy (dystrophic nails) to anonychia (absence of nails). Onychodystrophy-anonychia has been described in at least four generations of a family with male-to-male transmission, suggesting autosomal dominant transmission. Anonychia has been described in approximately less than 20 cases; it is likely to be transmitted as an autosomal recessive trait. Total anonychia congenita, in which all the fingernails and toenails are absent, may have an autosomal dominant inheritance pattern.
Isolated congenital anonychia
COIF
COIF syndrome
Congenital onychodysplasia of the index fingers
Iso-Kikuchi syndrome
Isolated congenital onychodysplasia
Reticular pigment anomaly of flexures
Dowling-Degos disease
Melanosis diffusa congenita
Melanosis universalis hereditaria
Universal melanosis
Familial progressive hyperpigmentation is a rare, genetic, skin pigmentation anomaly disorder characterized by irregular patches of hyperpigmented skin which present at birth or in early infancy and increase in size, number and confluence with age. Affected areas of the body include the face, neck, trunk and limbs, as well as the palms, soles, oral mucosa and conjuctiva. No hypogmentation macules are observed and no systemic diseases are associated.
Familial progressive hyperpigmentation
Familial reactive perforating collagenosis is a very rare genetic skin disease characterized by transepidermal elimination of collagen fibers presenting as recurrent spontaneously involuting keratotic papules or nodules.
Familial reactive perforating collagenosis
Elastosis perforans serpiginosa
François syndrome
Dermochondrocorneal dystrophy is characterised by osteochondrodystrophy of the hands and feet, corneal dystrophy and the presence of skin nodules clustered around the metacarpophalangeal and interphalangeal joints, around the nose and ears and on the posterior surface of the elbow. Gingival lesions may also be present. It has been described in less than 20 patients. Transmission is autosomal recessive.
Dermochondrocorneal dystrophy
LWNH
Linear and whorled nevoid hypermelanosis
AKV of Hopf
Acrokeratosis verruciformis of Hopf
Disseminated superficial actinic porokeratosis (DSAP) is the most common form of porokeratosis characterized by the presence of several small annular plaques with a distinctive keratotic rim found most commonly on sun-exposed areas of the skin, particularly the extremities.
Disseminated superficial actinic porokeratosis
Nail dysplasia is an idiopathic nail dystrophy, beginning in early childhood, and characterised by excessive longitudinal striations and loss of nail luster affecting all 20 nails.
Idiopathic trachyonychia
Alpha-aminoadipic aciduria
2-aminoadipic 2-oxoadipic aciduria is a rare disorder of lysine and hydroxylysine metabolism characterized by variable clinical presentation including hypotonia, developmental delay, mild to severe intellectual disability, ataxia, epilepsy and behavioral disorders, most commonly attention deficit hyperactivity disorder. Frequently, individuals are completely without clinical phenotype.
2-aminoadipic 2-oxoadipic aciduria
Kynureninase deficiency
Xanthurenic aciduria
Encephalopathy due to hydroxykynureninuria is characterised by psychomotor retardation and nonprogressive encephalopathy associated with urinary excretion of large amounts of kynurenine, 3-hydroxykynurenine, and xanthurenic acid. It has been described in less than 30 patients. Other manifestations may include muscular hypertonia, headaches and stereotyped gestures. This disorder is transmitted as an autosomal recessive trait. It is caused by a defect in kynureninase, an enzyme of the tryptophane catabolic pathway.
Encephalopathy due to hydroxykynureninuria
Seizures-intellectual disability due to hydroxylysinuria syndrome is characterised by hydroxylysinuria, myoclonic and motor seizures and intellectual deficit. It has been described in a brother and sister born to consanguineous parents and in one unrelated patient.
Seizures-intellectual disability due to hydroxylysinuria syndrome
2-methylbutyric aciduria
Developmental delay due to 2-methylbutyryl-CoA dehydrogenase deficiency
SBCAD deficiency
Short/branched-chain acyl-coA dehydrogenase deficiency
gene (located on chromosome 10q25-26) have been reported in affected patients. Treatment includes carnitine supplementation and a low-protein diet.
2-methylbutyryl-CoA dehydrogenase deficiency
Cerebral organic aciduria
Isobutyric aciduria
gene (11q25).
Isobutyryl-CoA dehydrogenase deficiency
Disorder of carbohydrate metabolism
Classic organic aciduria
Disorder of amino acid absorption and transport
Disorder of urea cycle metabolism and ammonia detoxification
Anomalies of bile acid synthesis are a group of sterol metabolism disorders due to enzyme deficiencies of bile acid synthesis (BAS) in infants, children and adults, with variable manifestations that include cholestasis, neurological disease, and fat malabsorption. Nine inborn errors have been described, 7 of which lead to liver cholestasis.
Disorder of bile acid synthesis
Disorder of neurotransmitter metabolism and transport
Disorder of cobalamin metabolism and transport
CCDS
CDS
Cerebral creatine deficiency syndrome
Creatine deficiency syndrome (CDS) comprises a group of inborn errors of creatine metabolism, characterized by a global developmental delay, intellectual disability and associated neurological (seizures, movement disorders, myopathy) and behavioral manifestions. CDS includes two creatine biosynthesis disorders; guanidinoacetate methyltransferase deficiency and L- Arginine: glycine amidinotransferase deficiency, as well as X-linked creatine transporter deficiency.
Creatine deficiency syndrome
Cytosolic methyl group transfer or sulfur amino acid metabolism disorder
Disorder of methionine cycle and sulfur amino acid metabolism
Disorder of fatty acid oxidation and ketone body metabolism
Disorder of GABA metabolism
Disorder of gamma-aminobutyric acid metabolism
Gluconeogenesis disorder
Glucose transport disorder
Disorder of glycerol metabolism
Disorder of histidine metabolism
Disorder of ketolysis
Disorder of ornithine or proline metabolism
Disorder of pentose phosphate metabolism
Disorder of peptide metabolism
Peroxisomal beta-oxidation disorder
Peroxisome biogenesis disorder spectrum
Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS) is a group of autosomal recessive disorders affecting the formation of functional peroxisomes, characterized by sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment, and is comprised of the phenotypic variants Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) (see these terms).
Peroxisome biogenesis disorder
Disorder of phenylalanin or tyrosine metabolism
Disorder of purine metabolism
Disorder of pyridoxine metabolism
ANPM
Disorder of pyrimidine metabolism
Disorder of serine or glycine metabolism
Sterol biosynthesis disorder
Disorder of the gamma-glutamyl cycle
Disorder of branched-chain amino acid metabolism
X-linked juvenile retinoschisis
XLRS
X-linked retinoschisis (XLRS) is a genetic ocular disease that is characterized by reduced visual acuity in males due to juvenile macular degeneration.
X-linked retinoschisis
Disorder of energy metabolism
GSD
Glycogenosis
Glycogen storage disease
Lipid storage disease
Disorder of lysosomal amino acid transport
Combined hyperlipoproteinemia
Mixed hyperlipidemia
Mixed hyperlipoproteinemia
Combined hyperlipidemia
Mucolipidosis
Mucopolysaccharidosis
Disorder of biogenic amine metabolism and transport
Oligosaccharidosis
Other metabolic disease with skin involvement
Metabolic disease involving other neurotransmitter deficiency
Disorder of purine or pyrimidine metabolism
Sphingolipidosis
Sterol metabolism disorder
Juvenile hemochromatosis
Hemochromatosis type 2 (juvenile) is the early-onset and most severe form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin.
Hemochromatosis type 2
HPRT deficiency, grade I
HPRT partial deficiency
HPRT-related gout
HPRT-related hyperuricemia
HPRT1 partial deficiency
Hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency
Hypoxanthine guanine phosphoribosyltransferase deficiency, grade I
Kelley-Seegmiller syndrome
Kelley-Seegmiller syndrome (KSS) is the mildest form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO) leading to urolithiasis, and early-onset gout.
Hypoxanthine guanine phosphoribosyltransferase partial deficiency
Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1
Bilirubin-UGT deficiency type 1
Hereditary unconjugated hyperbilirubinemia type 1
UGT deficiency type 1
Crigler-Najjar syndrome type 1 (CNS1) is the most severe form of CNS (see this term), a hereditary disorder of hepatic bilirubin conjugation, characterized by severe neonatal unconjugated hyperbilirubinemia due to a complete absence of hepatic bilirubin glucuronosyltransferase (BGT).
Crigler-Najjar syndrome type 1
Arias syndrome
Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 2
Bilirubin-UGT deficiency type 2
Hereditary unconjugated hyperbilirubinemia type 2
UGT deficiency type 2
Type 2 Crigler-Najjar syndrome (CNS2) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to reduced and inducible activity of hepatic bilirubin glucuronosyltransferase (GT). CNS2 is a milder form of CNS than CNS1 (see these terms).
Crigler-Najjar syndrome type 2
GALK deficiency
GALK-D
Galactokinase deficiency galactosemia
Galactosemia type 2
Galactokinase deficiency is a rare mild form of galactosemia (see this term) characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, i.e. feeding difficulties, poor weight gain and growth, lethargy, and jaundice.
Galactokinase deficiency
Epimerase deficiency galactosemia
GALE deficiency
GALE-D
Galactosemia type 3
UDP-galactose-4-epimerase deficiency
Uridine diphosphate galactose-4-epimerase deficiency
Galactose epimerase deficiency is a very rare, moderate to severe form of galactosemia (see this term) characterized by moderate to severe signs of impaired galactose metabolism.
Galactose epimerase deficiency
GALT deficiency
Galactose-1-phosphate uridyltransferase deficiency
Galactosemia type 1
Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease.
Classic galactosemia
GSD due to liver and muscle phosphorylase kinase deficiency
GSD type 9B
GSD type IXb
Glycogen storage disease type 9B
Glycogen storage disease type IXb
Glycogenosis due to liver and muscle phosphorylase kinase deficiency
Glycogenosis type 9B
Glycogenosis type IXb
Glycogen storage disease (GSD) due to liver and muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism. It is the mildest form of GSD due to PhK deficiency (see this term).
Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency
BTD deficiency
Juvenile-onset multiple carboxylase deficiency
Late-onset multiple carboxylase deficiency
Biotinidase deficiency is a late-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development.
Biotinidase deficiency
Early-onset multiple carboxylase deficiency
Neonatal multiple carboxylase deficiency
Holocarboxylase synthetase (HCS) deficiency is a life-threatening early-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism, that, if untreated, is characterized by vomiting, tachypnea, irritability, lethargy, exfoliative dermatitis, and seizures that can worsen to coma.
Holocarboxylase synthetase deficiency
PDHAD
Pyruvate decarboxylase deficiency
Pyruvate dehydrogenase complex E1 component subunit alpha deficiency
Pyruvate dehydrogenase E1-alpha deficiency is the most frequent form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis, impaired psychomotor development, hypotonia and neurological dysfunction.
Pyruvate dehydrogenase E1-alpha deficiency
Dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency
Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency
Pyruvate dehydrogenase complex component E2 deficiency
Pyruvate dehydrogenase E2 deficiency is a very rare form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction, mainly appearing during childhood.
Pyruvate dehydrogenase E2 deficiency
PDH phosphatase deficiency
Pyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by lactic acidemia in the neonatal period.
Pyruvate dehydrogenase phosphatase deficiency
Mild PKU
Variant PKU
Variant phenylketonuria
mPKU
Mild phenylketonuria is a rare form of phenylketouria (PKU, see this term), an inborn error of amino acid metabolism, characterized by symptoms of PKU of mild to moderate severity.
Mild phenylketonuria
Classic PKU
Classical phenylketonuria is a severe form of phenylketonuria (PKU, see this term) an inborn error of amino acid metabolism characterized in untreated patients by severe intellectual deficit and neuropsychiatric complications.
Classic phenylketonuria
Infantile GM1 gangliosidosis
Norman-Landing disease
GM1 gangliosidosis type 1 is the severe infantile form of GM1 gangliosidosis (see this term) with variable neurological and systemic manifestations.
GM1 gangliosidosis type 1
Juvenile GM1 gangliosidosis
Late-infantile GM1 gangliosidosis
GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis (see this term) characterized by normal early development and psychomotor regression between seven months and three years of age.
GM1 gangliosidosis type 2
Adult-onset GM1 gangliosidosis
GM1 gangliosidosis type 3 is a mild, chronic, adult form of GM1 gangliosidosis (see this term) characterized by onset generally during childhood or adolescence and by cerebellar dysfunction.
GM1 gangliosidosis type 3
G6P deficiency type 1a
GSD due to G6P deficiency type 1a
GSD due to G6P deficiency type Ia
GSD type 1a
GSDIa
Glycogen storage disease due to G6P deficiency type Ia
Glycogen storage disease type 1a
Glycogenosis due to glucose-6-phosphatase deficiency type 1a
Glycogenosis due to glucose-6-phosphatase deficiency type Ia
Glycogenosis type Ia
Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type a, or glycogen storage disease (GSD) type 1a, is a type of glycogenosis due to G6P deficiency (see this term).
Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia
G6P deficiency type Ib
G6P translocase deficiency
G6PT deficiency
GSD due to G6P deficiency type Ib
GSD due to G6PT deficiency
GSD type 1 non a
GSD type 1b
GSD type Ib
GSDIb
Glycogen storage disease due to G6P deficiency type Ib
Glycogen storage disease type 1b
Glycogen storage disease type Ib
Glycogenosis due to glucose-6-phosphatase deficiency type 1b
Glycogenosis due to glucose-6-phosphatase transport defect type Ib
Glycogenosis type 1b
Glycogenosis type Ib
Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type b, or glycogen storage disease (GSD) type 1b, is a type of glycogenosis due to G6P deficiency (see this term).
Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_79259 with label: Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib
ANCL
Adult NCL
Kufs disease
Adult neuronal ceroid lipofuscinoses (ANCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration.
Adult neuronal ceroid lipofuscinosis
Hagberg-Santavuori disease
Infantile NCL
Santavuori disease
Santavuori-Haltia disease
Infantile neuronal ceroid lipofuscinosis (INCL) is a form of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by onset during the second half of the first year of life and rapid mental and motor deterioration leading to loss of all psychomotor abilities.
Infantile neuronal ceroid lipofuscinosis
Batten disease
Juvenile NCL
Spielmeyer-Vogt disease
Juvenile neuronal ceroid lipofuscinoses (JNCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset at early school age with vision loss due to retinopathy, seizures and the decline of mental and motor capacities.
Juvenile neuronal ceroid lipofuscinosis
Heparan sulfamidase deficiency
MPSIIIA
Mucopolysaccharidosis type 3A
Mucopolysaccharidosis type IIIA
Sanfilippo syndrome type A
MPS3B
MPSIIIB
Mucopolysaccharidosis type 3B
Mucopolysaccharidosis type IIIB
N-acetyl-alpha-glucosaminidase deficiency
Sanfilippo syndrome type B
HGSNAT deficiency
Heparan-alpha-glucosaminide N-acetyltransferase deficiency
MPS3C
MPSIIIC
Mucopolysaccharidosis type 3C
Mucopolysaccharidosis type IIIC
Sanfilippo syndrome type C
GNS deficiency
Glucosamine N-acetyl-6-sulfatase deficiency
MPS3D
MPSIIID
Mucopolysaccharidosis type 3D
Mucopolysaccharidosis type IIID
Sanfilippo syndrome type D
Hereditary coproporphyria is a form of acute hepatic porphyria (see this term) characterized by the occurrence of neuro-visceral attacks and, more rarely, by the presence of cutaneous lesions.
Hereditary coproporphyria
Acute intermittent porphyria is the most frequent and the most severe form of the acute hepatic porphyrias (see this term). It is characterized by the occurrence of neuro-visceral attacks without cutaneous manifestations.
Acute intermittent porphyria
CEP
Günther disease
Congenital erythropoietic porphyria, or Günther disease, is a form of erythropoietic porphyria characterized by very severe and mutilating photodermatosis.
Congenital erythropoietic porphyria
EPP
Erythropoietic protoporphyria (EPP) is an inherited disorder of the heme metabolic pathway characterized by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity.
Autosomal erythropoietic protoporphyria
NAGA deficiency type 1
Schindler disease type 1
Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 1 is a very rare and severe type of NAGA deficiency (see this term) characterized by infantile neuroaxonal dystrophy.
Alpha-N-acetylgalactosaminidase deficiency type 1
Adult-onset Alpha-N-acetylgalactosaminidase deficiency
Kanzaki disease
NAGA deficiency type 2
Schindler disease type 2
Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 2 is a very rare mild adult type of NAGA deficiency (see this term) with the features of angiokeratoma corporis diffusum (see this term) and mild sensory neuropathy.
Alpha-N-acetylgalactosaminidase deficiency type 2
NAGA deficiency type 3
Schindler disease type 3
Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 3 is a rare clinically heterogeneous type of NAGA deficiency (see this term) with developmental, neurologic and psychiatric manifestations presenting at an intermediate age.
Alpha-N-acetylgalactosaminidase deficiency type 3
CblC defect
Cobalamin C defect
Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC
Methylmalonic aciduria with homocystinuria, type cblC
type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.
Methylmalonic acidemia with homocystinuria, type cblC
CblD defect
Cobalamin D defect
Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblD
Methylmalonic aciduria with homocystinuria, type cblD
type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by variable biochemical, neurological and hematological manifestations.
Methylmalonic acidemia with homocystinuria, type cblD
CblF defect
Cobalamin F defect
Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblF
Lysosomal membrane cobalamin transporter deficiency
Methylmalonic aciduria with homocystinuria, type cblF
Methylmalonic acidemia with homocystinuria type cblF
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_646 with label: Niemann-Pick disease type C
FED
Partial LCAT deficiency
Fish eye disease (FED) is a form of genetic LCAT (lecithin-cholesterol acyltransferase) deficiency (see this term) characterized clinically by corneal opacifications, and biochemically by significantly reduced HDL cholesterol and partial LCAT enzyme deficiency.
Fish-eye disease
Complete LCAT deficiency
FLD
Norum disease
Familial LCAT (lecithin-cholesterol acyltransferase) deficiency (FLD) is a form of lecithin-cholesterol acyltransferase deficiency (LCAT; see this term) characterized clinically by corneal opacities, hemolytic anemia, and renal failure, and biochemically by severely decreased HDL cholesterol and complete deficiency of the LCAT enzyme.
Familial LCAT deficiency
Hyperinsulinemic hypoglycemia, diazoxide-resistant focal form
Diazoxide-resistant focal hyperinsulism (DRFH) is a form of diazoxide-resistant hyperinsulinism (see this term) characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to a focal adenomatous hyperplasia of pancreas, that is unresponsive to medical treatment with diazoxide, necessitating complete excision of the focal lesion.
Diazoxide-resistant focal hyperinsulinism
Hyperinsulinemic hypoglycemia due to glucokinase deficiency
Hyperinsulism due to glucokinase deficiency (HIGCK) is a form of diazoxide-sensitive diffuse hyperinsulinism (see this term), caused by a lowered threshold for insulin release, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae.
Hyperinsulinism due to glucokinase deficiency
Synovitis-acne-pustulosis-hyperostosis-osteitis syndrome
SAPHO syndrome (acronym for Synovitis, Acne, Pustulosis, Hyperostosis and Osteitis) is an auto-inflammatory disease, mainly characterized by the association of neutrophilic cutaneous involvement and chronic osteomyelitis.
SAPHO syndrome
3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency
BASD1
Congenital bile acid synthesis defect type 1 (BAS defect type 1) is the most common anomaly of bile acid synthesis (see this term) characterized by variable manifestations of progressive cholestatic liver disease, and fat malabsorption.
Congenital bile acid synthesis defect type 1
BASD3
Oxysterol 7-alpha-hydroxylase deficiency
Congenital bile acid synthesis defect type 3 (BAS defect type 3) is a severe anomaly of bile acid synthesis (see this term) characterized by severe neonatal cholestatic liver disease.
Congenital bile acid synthesis defect type 3
BASD2
Cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency
Congenital bile acid synthesis defect type 2 (BAS defect type 2) is an anomaly of bile acid synthesis (see this term) characterized by severe and rapidly progressive cholestatic liver disease, and malabsorption of fat and fat-soluble vitamins.
Congenital bile acid synthesis defect type 2
BSEP deficiency
PFIC2
Progressive familial intrahepatic cholestasis type 2 (PFIC2), a type of progressive familial intrahepatic cholestasis (PFIC, see this term), is a severe, neonatal, hereditary disorder in bile formation that is hepatocellular in origin and not associated with extrahepatic features. Initially, PFIC2 was reported under the name Byler syndrome.
Progressive familial intrahepatic cholestasis type 2
PFIC3
Progressive familial intrahepatic cholestasis type 3 (PFIC3), a type of progressive familial intrahepatic cholestasis (PFIC, see this term), is a late-onset hereditary disorder in bile formation that is hepatocellular in origin. Onset may occur from infancy to young adulthood.
Progressive familial intrahepatic cholestasis type 3
Byler disease
FIC1 deficiency
PFIC1
PFIC1, a type of progressive familial intrahepathic cholestasis (PFIC, see this term), is an infantile hereditary disorder in bile formation that is hepatocellular in origin and associated with extrahepatic features.
Progressive familial intrahepatic cholestasis type 1
Vitamin B12-responsive methylmalonic aciduria type cblA
Vitamin B12-responsive methylmalonic acidemia type cblA
Vitamin B12-responsive methylmalonic aciduria, type cblB
Vitamin B12-responsive methylmalonic acidemia type cblB
Partial deficiency of methylmalonyl-CoA mutase
Vitamin B12-unresponsive methylmalonic aciduria type mut-
Vitamin B12-unresponsive methylmalonic acidemia type mut- is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12.
Vitamin B12-unresponsive methylmalonic acidemia type mut-
L-2-HGA
L-2-hydroxyglutaric acidemia
L-2-hydroxyglutaric aciduria is a primarily neurological form of 2-hydroxyglutaric aciduria (see this term) characterized by psychomotor retardation, cerebellar ataxia and variable macrocephaly or epilepsy.
L-2-hydroxyglutaric aciduria
D-2-HGA
D-2-hydroxyglutaric acidemia
D-2-hydroxyglutaric aciduria (D-2-HGA) is a rare clinically variable neurological form of 2-hydroxyglutaric aciduria (see this term) characterized biochemically by elevated D-2-hydroxyglutaric acid (D-2-HG) in the urine, plasma and cerebrospinal fluid.
D-2-hydroxyglutaric aciduria
use http://www.orpha.net/ORDO/Orphanet_2880 with label: Phosphoenolpyruvate carboxykinase deficiency
OBSOLETE: Phosphoenolpyruvate carboxykinase 1 deficiency
OBSOLETE: Phosphoenolpyruvate carboxykinase 2 deficiency
CDG syndrome type Ia
CDG-Ia
CDG1A
Carbohydrate deficient glycoprotein syndrome type Ia
Congenital disorder of glycosylation type 1a
Congenital disorder of glycosylation type Ia
Phosphomannomutase 2 deficiency
PMM2-CDG is the most frequent form of congenital disorder of N-glycosylation and is characterized by cerebellar dysfunction, abnormal fat distribution, inverted nipples, strabismus and hypotonia. 3 forms of PMM2-CDG can be distinguished: the infantile multisystem type, late-infantile and childhood ataxia-intellectual disability type (3-10 yrs old), and the adult stable disability type. Infants usually develop ataxia, psychomotor delay and extraneurological manifestations including failure to thrive, enteropathy, hepatic dysfunction, coagulation abnormalities and cardiac and renal involvement. The phenotype is however highly variable and ranges from infants who die in the first year of life to mildly involved adults.
PMM2-CDG
CDG syndrome type Ib
CDG-Ib
CDG1B
Carbohydrate deficient glycoprotein syndrome type Ib
Congenital disorder of glycosylation type 1b
Congenital disorder of glycosylation type Ib
Phosphomannose isomerase deficiency
MPI-CDG
CDG syndrome type Ic
CDG-Ic
CDG1C
Carbohydrate deficient glycoprotein syndrome type Ic
Congenital disorder of glycosylation type 1c
Congenital disorder of glycosylation type Ic
Glucosyltransferase 1 deficiency
ALG6-CDG
CDG syndrome type Id
CDG-Id
CDG1D
Carbohydrate deficient glycoprotein syndrome type Id
Congenital disorder of glycosylation type 1d
Congenital disorder of glycosylation type Id
Mannosyltransferase 6 deficiency
ALG3-CDG
CDG syndrome type Ie
CDG-Ie
CDG1E
Carbohydrate deficient glycoprotein syndrome type Ie
Congenital disorder of glycosylation type 1e
Congenital disorder of glycosylation type Ie
Dol-P-mannosyltransferase deficiency
The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ie is characterised by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly. Ocular anomalies are also very common.
DPM1-CDG
CDG syndrome type If
CDG-If
CDG1F
Carbohydrate deficient glycoprotein syndrome type If
Congenital disorder of glycosylation type 1f
Congenital disorder of glycosylation type If
The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type If is characterised by psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies.
MPDU1-CDG
CDG syndrome type Ig
CDG-Ig
Carbohydrate deficient glycoprotein syndrome type Ig
Congenital disorder of glycosylation type 1g
Congenital disorder of glycosylation type Ig
Mannosyltransferase 8 deficiency
ALG12-CDG
CDG syndrome type Ih
CDG-Ih
CDG1H
Carbohydrate deficient glycoprotein syndrome type Ih
Congenital disorder of glycosylation type 1h
Congenital disorder of glycosylation type Ih
Glucosyltransferase 2 deficiency
(11q14.1), resulting in a block in the initial step of protein glycosylation.
ALG8-CDG
CDG syndrome type Ii
CDG-Ii
Carbohydrate deficient glycoprotein syndrome type Ii
Congenital disorder of glycosylation type 1i
Congenital disorder of glycosylation type Ii
Mannosyltransferase 2 deficiency
(9q31.1). Transmission is autosomal recessive.
ALG2-CDG
CDG syndrome type Ik
CDG-Ik
Carbohydrate deficient glycoprotein syndrome type Ik
Congenital disorder of glycosylation type 1k
Congenital disorder of glycosylation type Ik
Mannosyltransferase 1 deficiency
ALG1-CDG
CDG syndrome type IL
CDG-IL
CDG1L
Carbohydrate deficient glycoprotein syndrome type 1L
Congenital disorder of glycosylation type 1L
Mannosyltransferase 7-9 deficiency
ALG9-CDG
CDG syndrome type IIa
CDG-IIa
CDG2A
Carbohydrate deficient glycoprotein syndrome type IIa
Congenital disorder of glycosylation type 2a
Congenital disorder of glycosylation type IIa
N-acetylglucosaminyltransferase 2 deficiency
MGAT2-CDG
CDG syndrome type IIb
CDG-IIb
CDG2B
Carbohydrate deficient glycoprotein syndrome type IIb
Congenital disorder of glycosylation type 2b
Congenital disorder of glycosylation type IIb
Glucosidase 1 deficiency
MOGS-CDG
Beta-1,4-galactosyltransferase deficiency
CDG syndrome type IId
CDG-IId
CDG2D
Carbohydrate deficient glycoprotein syndrome type IId
Congenital disorder of glycosylation type 2d
Congenital disorder of glycosylation type IId
gene (localised to region q13 of chromosome 9) leading to a deficiency in the Golgi apparatus enzyme beta-1,4-galactosyl transferase.
B4GALT1-CDG
CDG syndrome type IIe
CDG-IIe
CDG2E
Carbohydrate deficient glycoprotein syndrome type IIe
Congenital disorder of glycosylation type 2e
Congenital disorder of glycosylation type IIe
COG7-CDG is a congenital disorder of glycosylation characterised by dysmorphism, skeletal dysplasia, hypotonia, hepatosplenomegaly, jaundice, cardiac insufficiency, recurrent infections and epilepsy. To date, it has been described in two infants, both of whom died within the first three months of life. The syndrome is caused by a mutation in the gene encoding COG-7 (chromosome 16), a subunit of the oligomeric Golgi complex.
COG7-CDG
Chondrodysplasia punctata, Sheffield type
Autosomal dominant chondrodysplasia punctata
Brachytelephalangic chondrodysplasia punctata (BCDP) is a form of non-rhizomelic chondrodysplasia punctata, a primary bone dysplasia, characterized by hypoplasia of the distal phalanges of the fingers, nasal hypoplasia, epiphyseal stippling appearing in the first year of life, as well as mild and non-rhizomelic shortness of the long bones.
Brachytelephalangic chondrodysplasia punctata
Chondrodysplasia punctata, tibial-metacarpal type
Toriello-Higgins-Miller syndrome
Chondrodysplasia punctata, Toriello type is a rare, non-rhizomelic, primary bone dysplasia syndrome characterized by calcific stippling of epiphyses in association with minor facial abnormalities, short stature and ocular colobomata. In addition, patients present chondrodysplasia punctata, brachycephaly, flat facial profile with small nose, flat lower eyelids and low-set ears, developmental delay, brachytelephalangy and deep palmar creases. Complex congenital cardiac disease and central nervous system anomalies (including partial absence of corpus callosum, small vermis, enlargement of the cisterna magna and/or of the anterior horns of the lateral ventricles) have been reported.
Chondrodysplasia punctata, Toriello type
3-Phosphoserine phosphatase deficiency is an extremely rare form of serine deficiency syndrome (see this term) characterized clinically by congenital microcephaly and severe psychomotor retardation in the single reported case to date, which was associated with Williams syndrome (see this term).
3-phosphoserine phosphatase deficiency
3-Phosphoglycerate dehydrogenase deficiency (3-PGDH deficiency) is an autosomal recessive form of serine deficiency syndrome (see this term) characterized clinically in the few reported cases by congenital microcephaly, psychomotor retardation and intractable seizures in the infantile form and by absence seizures, moderate developmental delay and behavioral disorders in the juvenile form
3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form
Epidermal disease
Ichthyosis
Erythrokeratoderma
Acrokeratoderma
Hereditary PPK
Hereditary keratosis palmoplantaris
Hereditary palmoplantar hyperkeratosis
Hereditary palmoplantar keratoderma
Porokeratosis
Other epidermal disorder
Other genetic epidermal disease
Epidermolysis bullosa hereditaria
Hereditary epidermolysis bullosa
Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues.
Inherited epidermolysis bullosa
Epidermal appendage anomaly
Hair anomaly
Alopecia
Rare disorder with hypertrichosis
Isolated hair shaft abnormality
Syndromic hair shaft abnormality
Nail anomaly
Isolated nail anomaly
Syndromic nail anomaly
Sebaceous gland anomaly
Ectodermal dysplasia
The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures.
Ectodermal dysplasia syndrome
Pigmentation anomaly of the skin
Hyperpigmentation of the skin
Hypopigmentation of the skin
Dermis disorder
Dermis elastic tissue disorder
Skin vascular disease
Mixed dermis disorder
Other dermis disorder
Subcutaneous tissue disease
Lymphedema
Rare urticaria
Unclassified genetic skin disorder
Rare skin tumor or hamartoma
Metabolic disease with skin involvement
MPS with skin involvement
Mucopolysaccharidosis with skin involvement
Premature aging
Rare skin photosensitivity
Rare photodermatosis
Immune deficiency with skin involvement
CIE
Erythrodermic ichthyosis
Non-bullous congenital ichthyosiform erythroderma
Congenital ichthyosiform erythroderma (CIE) is a variant of autosomal recessive congenital ichthyosis (ARCI; see this term), a rare epidermal disease, characterized by fine, whitish scales on a background of erythematous skin over the whole body.
Congenital non-bullous ichthyosiform erythroderma
Camisa disease
Keratoderma-ichthyosiform dermatosis-elevated beta-glucuronidase syndrome
Loricrin keratoderma
Vohwinkel syndrome with ichthyosis
Keratoderma hereditarium mutilans with ichthyosis is a diffuse palmoplantar keratoderma characterized by honeycomb palmoplantar hyperkeratosis associated with pseudoainhum of the fifth digit of the hand, ichthyosis and deafness. Keratoderma hereditarium mutilans with ichthyosis follows an autosomal dominant mode of transmission.
Keratoderma hereditarium mutilans with ichthyosis
EBS, generalized severe
Epidermolysis bullosa simplex, Dowling-Meara type
Epidermolysis bullosa simplex, herpetiformis
Epidermolysis bullosa simplex, Dowling-Meara type (EBS-DM) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by the presence of generalized vesicles and small blisters in grouped or arcuate configuration.
Epidermolysis bullosa simplex, generalized severe
EBS-MP
Epidermolysis bullosa simplex with mottled pigmentation (EBS-MP) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized blistering with mottled or reticulate brown pigmentation.
Epidermolysis bullosa simplex with mottled pigmentation
EBS, generalized intermediate
Epidermolysis bullosa simplex, Koebner type
Epidermolysis bullosa simplex, Köbner type
Generalized EBS, non-Dowling-Meara type
Generalized epidermolysis bullosa simplex, non-Dowling-Meara type
Non-Dowling-Meara generalized epidermolysis bullosa simplex, formerly known as epidermolysis bullosa simplex, Köbner type (EBS-K) is a generalized basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by non-herpetiform blisters and erosions arising in particular at sites of friction.
Epidermolysis bullosa simplex, generalized intermediate
ACS3
Acrocephalosyndactyly type 3
Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations.
EBS-loc
Epidermolysis bullosa simplex of palms and soles
Epidermolysis bullosa simplex, Weber-Cockayne type
Localized epidermolysis bullosa simplex, formerly known as EBS, Weber-Cockayne, is a basal subtype of epidermolysis bullosa simplex (EBS, see this term). The disease is characterized by blisters occurring mainly on the palms and soles, exacerbated by warm weather.
Localized epidermolysis bullosa simplex
EBS-O
Epidermolysis bullosa simplex, Ogna type (EBS-O) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by sometimes widespread, primarily acral blistering.
Epidermolysis bullosa simplex, Ogna type
GABEB
Generalized atrophic benign epidermolysis bullosa
Generalized junctional epidermolysis bullosa, non-Herlitz type
JEB, generalized intermediate
JEB-nH gen
Junctional epidermolysis bullosa generalisata mitis
Junctional epidermolysis bullosa, Disentis type
Generalized non-Herlitz-type junctional epidermolysis bullosa is a form of non-Herlitz-type junctional epidermolysis bullosa (JEB-nH, see this term) characterized by generalized skin blistering, atrophic scarring, nail dystrophy or nail absence, and enamel hypoplasia, with extracutaneous involvement.
Junctional epidermolysis bullosa, generalized intermediate
Carmi syndrome
JEB-PA
Junctional epidermolysis bullosa with pyloric atresia is a severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by generalized blistering at birth and congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract.
Junctional epidermolysis bullosa-pyloric atresia syndrome
Epidermolysis bullosa letalis
JEB, generalized severe
JEB-H
Junctional epidermolysis bullosa generalisata gravis
Junctional epidermolysis bullosa, Herlitz type
Junctional epidermolysis bullosa, Herlitz-Pearson type
Junctional epidermolysis bullosa, Herlitz-type is a severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by blisters and extensive erosions, localized to the skin and mucous membranes.
Junctional epidermolysis bullosa, generalized severe
EBJ-I
Inverse JEB
JEB-I
Junctional epidermolysis bullosa inversa is a rare severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by blistering and erosions confined to intertriginous skin sites, the esophagus, and vagina.
Junctional epidermolysis bullosa inversa
EB progressive
JEB-lo
Late-onset junctional epidermolysis bullosa is a subtype of junctional epidermolysis bullosa (JEB, see this term) occurring in childhood or young adulthood.
Late-onset junctional epidermolysis bullosa
Autosomal dominant dystrophic epidermolysis bullosa, Cockayne-Touraine type
Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis
Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type
RDEB generalisata gravis
RDEB, Hallopeau-Siemens type
RDEB-sev gen
Severe generalized RDEB
Severe generalized recessive dystrophic epidermolysis bullosa (RDEB-sev gen) is the most severe subtype of dystrophic epidermolysis bullosa (DEB, see this term), formerly known as the Hallopeau-Siemens type, and is characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement.
Severe generalized recessive dystrophic epidermolysis bullosa
Dystrophic epidermolysis bullosa inversa
Inverse RDEB
Inverse recessive dystrophic epidermolysis bullosa
RDEB-I
Recessive dystrophic epidermolysis bullosa inversa (RDEB-I) is rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by blisters and erosions which are primarily confined to intertriginous skin sites, the base of the neck, the uppermost back, and the lumbosacral area.
Recessive dystrophic epidermolysis bullosa inversa
DEB-Pt
Pretibial DEB
Pretibial dystrophic epidermolysis bullosa is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by the development of blisters, erosions, and lichenoid lesions predominantly in the pretibial region.
Pretibial dystrophic epidermolysis bullosa
DEB, bullous dermolysis of the newborn
DEB-BDN
Transient bullous dermolysis of the newborn is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life.
Transient bullous dermolysis of the newborn
Wooly hair nevus
Woolly hair nevus (WHN) is a rare non-familial hair anomaly characterized by kinky, tightly coiled, and hypopigmented fine hair with an average diameter of 0.5 cm, noted, since birth or during the first two years of life, in a localized circumscribed distribution on the scalp. Occassionally, WHN grows in areas observed to be alopecic in the neonatal period. WHN can be associated with features like ocular defects (persistent pupillary membrane, retinal defects), precocious puberty, and epidermal nevi.
Woolly hair nevus
use http://www.orpha.net/ORDO/Orphanet_636 with label: Neurofibromatosis type 1
OBSOLETE: Familial segmental neurofibromatosis
OBSOLETE: Familial spinal neurofibromatosis
HPS
Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity.
Hermansky-Pudlak syndrome
Tyrosinase-negative oculocutaneous albinism
Oculocutaneous albinism type 1A (OCA1A) is the most severe form of OCA (see this term), where no melanin is produced, and is characterized by white hair and skin, blue, fully translucent irises, nystagmus and misrouting of the optic nerves.
Oculocutaneous albinism type 1A
OCA2
Oculocutaneous albinism type 2 (OCA2) is a type of OCA (see this term) and the most common form of OCA seen in the African population, characterized by variable hypopigmentation of the skin and hair, numerous characteristic ocular changes and misrouting of the optic nerves at the chiasm.
Oculocutaneous albinism type 2
Red oculocutaneous albinism
Rufous oculocutaneous albinism
Xanthous oculocutaneous albinism
Type 3 oculocutaneous albinism (OCA3) is a form of oculocutaneous albinism (OCA; see this term) characterized by rufous or brown albinism and occurring mainly in the African population.
Oculocutaneous albinism type 3
OCA1B
Oculocutaneous albinism, Amish type
Platinum oculocutaneous albinism
Yellow oculocutaneous albinism
Oculocutaneous albinism type 1B (OCA1B) is a type of OCA1 (see this term) characterized by skin and hair hypopigmentation, nystagmus, reduced iris and retinal pigment and misrouting of the optic nerves.
Oculocutaneous albinism type 1B
Oculocutaneous albinism type 4 (OCA4) is a type of OCA (see this term) characterized by varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm.
Oculocutaneous albinism type 4
AHO-PHP syndrome Ia
Albright hereditary osteodystrophy-PHP syndrome Ia
Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO; see this term).
Pseudohypoparathyroidism type 1A
Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO; see this term), but normal activity of the stimulatory protein G (Gs alpha).
Pseudohypoparathyroidism type 1C
AHO-PPHP syndrome
Albright hereditary osteodystrophy-PPHP syndrome
Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO; see this term) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP; see this term).
Pseudopseudohypoparathyroidism
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_1234 with label: Bartsocas-Papas syndrome
X-linked lethal multiple pterygium syndrome is a rare, genetic, developmental defect during embryogenesis characterized by the typical lethal multiple pterygium syndrome presentation (comprising of multiple pterygia, severe arthrogryposis, cleft palate, cystic hygromata and/or fetal hydrops, skeletal abnormalities and fetal death in the 2nd or 3rd trimester) with an X-linked pattern of inheritance.
X-linked lethal multiple pterygium syndrome
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_79452 with label: Milroy disease
Non-hereditary congenital primary lymphedema
Congenital primary lymphedema
Hereditary lymphedema type I
Nonne-Milroy lymphedema
Milroy disease is a frequent form of primary lymphedema (see this term) characterized generally by painless, chronic lower-limb lymphedema found at birth or developing in the early neonatal period.
Milroy disease
Cutaneous local mastocytoma
Multiple mastocytoma
Solitary mastocytoma
Cutaneous mastocytoma is a form of cutaneous mastocytosis (CM, see this term) generally characterized by the presence of a solitary or multiple hyperpigmented macules, plaques or nodules associated with abnormal accumulation of mast cells in the skin.
Cutaneous mastocytoma
DCM
Diffuse cutaneous maculopapulous mastocytosis
Diffuse cutaneous mastocytosis (DCM) is a rare form of cutaneous mastocytosis (CM; see this term) characterized by generalized erythroderma, various degrees of blistering, skin with a ''peau d'orange'' appearance and the accumulation of mast cells in the skin. At least two DCM variants are recognized, one with extreme blistering (Bullous DCM; see this term) and one with infiltrations (Pseudoxanthomatous DCM; see this term).
Diffuse cutaneous mastocytosis
Urticaria pigmentosa
Maculopapular cutaneous mastocytosis (MCM) is a form of cutaneous mastocytosis (CM; see this term) characterized by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin.
Maculopapular cutaneous mastocytosis
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_113 with label: Bazex-Dupré-Christol syndrome
Follicular atrophoderma-basal cell carcinoma
ILVEN
Inflammatory linear verrucous epidermal nevus
Verrucous nevus
Acanthokeratolytic verrucous nevus
Protoporphyrinogen oxidase deficiency
Variegate porphyria
Variegate porphyria is a form of acute hepatic porphyria (see this term) characterized by the occurrence of neuro-visceral attacks with or without the presence of cutaneous lesions.
Porphyria variegata
Atypical progeroid syndrome
mutations, patients generally exhibit an aged appearance and common age-related disorders at earlier ages compared to the general population.
Atypical Werner syndrome
Griscelli-Pruniéras syndrome type 1
Hypopigmentation-neurologic impairment syndrome
Griscelli syndrome type 1
Griscelli-Pruniéras syndrome type 2
Hypopigmentation-immunodeficiency with or without neurologic impairment syndrome
Griscelli syndrome type 2
Griscelli-Pruniéras syndrome type 3
Griscelli syndrome type 3
Pemphigus vegetans
Seborrheic pemphigus
Senear-Usher syndrome
Pemphigus erythematosus is a rare superficial pemphigus disease characterized clinically by well-demarcated, localized, erythematous, scaly, hyperkeratotic, crusted plaques, with frequent butterfly distribution over the malar area of the face (but also commonly involving trunk and scalp, and less frequently the extremities, with a photoexposed distribution). Histologically, granular deposits along the dermal-epidermal junction, in addition to intercellular deposition in the upper epidermis, are observed.
Pemphigus erythematosus
Pemphigus foliaceous is a rare superficial pemphigus disease characterized by multiple, pruritic, scaly, crusted cutaneous erosions, with flaky circumscribed patches, localized mostly on the face, scalp, trunk and extremities, often presenting an erythematous base. Mucosal involvement is rarely observed.
Pemphigus foliaceus
Cutis verticis gyrata-thyroid aplasia-intellectual disability syndrome
Phakomatosis pigmentovascularis type 2
Phakomatosis cesioflammea
Phakomatosis pigmentovascularis type 5
Phakomatosis cesiomarmorata
Phakomatosis pigmentovascularis type 3
Phakomatosis spilorosea
Cystic hygroma
Cavernous lymphangioma
Cavernous lymphatic malformation
Macrocystic lymphangioma
Macrocystic lymphatic malformation
Capillary lymphangioma
Capillary lymphatic malformation
Cutaneous lymphangioma circumscriptum
Microcystic infiltrating lymphatic malformation
Microcystic lymphangioma
Superficial lymphangioma
Superficial lymphatic malformation
Microcystic lymphatic malformation
Pili multigemini
Pili gemini defines a situation where the papilla's tip of a hair follicle splits during the anagen phase and consequently grows two hair shafts emerging through a single pilary canal. A papilla tip that divides in several tips will produce several hair shafts, a situation named pili multigemini. Pili gemini or multigemini can occur in each type of hair.
Pili gemini
CYLD cutaneous syndrome
Brooke-Spiegler syndrome (BSS) is an inherited predisposition syndrome presenting with skin appendage tumors, namely cylindromas, spiradenomas and trichoepitheliomas. A minority of patients can also get major and minor salivary glands neoplasms, usually membranous basal cell adenoma.
Brooke-Spiegler syndrome
Congenital generalized hypertrichosis, Macias-Flores type
Macias Flores-Garcia Cruz-Rivera syndrome
X-linked congenital generalized hypertrichosis is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, which is characterized by hair overgrowth on the entire body in males, and mild and asymmetric hair overgrowth in females. It is associated with a mild facial dysmorphism (anterverted nostrils, moderate prognathism), and, in a kindred, it was also associated with dental anomalies and deafness.
X-linked congenital generalized hypertrichosis
DDOD syndrome
Dominant deafness-onychodystrophy (DDOD) syndrome is a multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small terminal phalanges.
Autosomal dominant deafness-onychodystrophy syndrome
A, B and C, and salmonelloses themselves.
Rare form of salmonellosis
Autosomal recessive deafness-onychodystrophy syndrome
DOOR syndrome
Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome
Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome
Deafness-onychoosteodystrophy-intellectual disability syndrome
DOORS syndrome (also known as DOOR syndrome) is a multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures.
DOORS syndrome
Buschke-Fischer-Brauer syndrome
Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type
PPKP1
Punctate palmoplantar keratoderma type I (PPKP1), also known as Buschke-Fischer-Brauer syndrome, is a very rare hereditary skin disease characterized by irregularly distributed epidermal hyperkeratosis of the palms and soles with wide variation among patients..
Punctate palmoplantar keratoderma type 1
PPKP2
PPPP
Punctate palmoplantar hyperkeratosis type 2
Punctate palmoplantar keratoderma type 2 is a type of isolated, punctate, hereditary palmoplantar keratoderma characterized by multiple, asymptomatic, 1 to 2 mm-long, firm, hyperkeratotic projections ("spiny keratosis") on the palms, soles and digits (typically confined to their volar and/or lateral aspects). Histopathologically, compact columnar parakeratosis over hypo- or agranular epidermis is observed.
Punctate palmoplantar keratoderma type 2
Ichthyosis hystrix, Curth-Macklin type
Ichthyosis hystrix of Curth-Macklin (IHCM) is a rare type of keratinopathic ichthyosis (see this term) that is characterized by the presence of severe hyperkeratotic lesions and palmoplantar keratoderma (PPK, see this term).
Ichthyosis hystrix of Curth-Macklin
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_79503 with label: Ichthyosis hystrix of Curth-Macklin
CEPT deficiency
Familial hyperalphalipoproteinemia
Cholesterol-ester transfer protein deficiency
LTC4 synthase deficiency
Leukotriene C4 synthase deficiency
Leukotriene C4 synthase deficiency is an extremely rare fatal neurometabolic developmental disorder characterized clinically by muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly.
Hypotonia-failure to thrive-microcephaly syndrome
GM2 gangliosidosis 0 variant
Hexosaminidases A and B deficiency
Sandhoff disease is a lysosomal storage disorder from the GM2 gangliosidosis family and is characterised by central nervous system degeneration.
Sandhoff disease
Autosomal recessive hyperinsulinemic hypoglycemia due to SUR1 deficiency
Autosomal recessive hyperinsulinism due to SUR1 deficiency
Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency
Autosomal recessive hyperinsulinism due to Kir6.2 deficiency
Mild HPA
Non-PKU HPA
mHPA
Mild hyperphenylalaninemia (HPA) is a rare form of phenylketonuria (see this term), an inborn error of amino acid metabolism, characterized by mild symptoms of HPA.
Mild hyperphenylalaninemia
Gardner syndrome is a severe form of familial adenomatous polyposis characterized by multiple adenomas in the colon and rectum associated with prominent extracolonic features including osteomas and multiple skin and soft tissue tumors.
Gardner syndrome
Autoimmune bullous skin disease
Besnier-Boeck-Schaumann disease
Boeck sarcoid
Boeck's sarcoid
Sarcoidosis is a multisystemic disorder of unknown cause characterized by the formation of immune granulomas in involved organs.
Sarcoidosis
Schinzel-Giedion syndrome (SGS) is an ectodermal dysplasia syndrome chiefly characterized by a distinctive facial dysmorphism, hydronephrosis, severe developmental delay, typical skeletal malformations, and genital and cardiac anomalies.
Schinzel-Giedion syndrome
Schizencephaly is a rare congenital cerebral malformation characterized by the presence of linear clefts in one or both hemispheres of the brain, extending from the lateral ventricles to the pial surface of the cortex, and that lead to a variety of neurological symptoms such as epilepsy, motor deficits, and psychomotor retardation.
Schizencephaly
Double Y syndrome
XYY syndrome
Y disomy
47, XYY syndrome is a sex chromosome aneuploidy where males receive an additional Y chromosome, and is characterized clinically by tall stature evident from childhood, macrocephaly, facial features (mild hypertelorism, low set ears, a mildly flat malar region), speech delay and an increased risk for social and emotional difficulties, attention deficit hyperactive disorder and autistic spectrum disorder.
47,XYY syndrome
Aberfeld syndrome
Burton skeletal dysplasia
Burton syndrome
Catel-Hempel syndrome
Dysostosis enchondralis metaepiphysaria, Catel-Hempel type
Myotonic chondrodystrophy
Myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies
Osteochondromuscular dystrophy
SJS
SJS1
Schwartz-Jampel syndrome type 1
Schwartz-Jampel-Aberfeld syndrome
Schwartz-Jampel syndrome (SJS) is characterised by myotonia and osteoarticular abnormalities.
Schwartz-Jampel syndrome
Scleroderma is a rare autoimmune connective tissue disorder characterized by abnormal hardening of the skin and, sometimes, other organs. It is classified into two main forms: localized scleroderma and systemic sclerosis (SSc), the latter comprising three subsets; diffuse cutaneous SSc (dcSSc), limited cutaneous SSc (lcSSc) and limited SSc (lSSc) (see these terms).
Scleroderma
Charcot disease
Lou Gehrig disease
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord.
Amyotrophic lateral sclerosis
Bourneville syndrome
Tuberous sclerosis
Tuberous sclerosis complex (TSC) is a neurocutaneous disorder characterized by multisystem hamartomas and associated with neuropsychiatric features.
Tuberous sclerosis complex
Scott syndrome is an extremely rare congenital hemorrhagic disorder characterized by hemorrhagic episodes due to impaired platelet coagulant activity.
Scott syndrome
Seckel syndrome is a type of microcephalic primordial dwarfism that is characterized by a proportionate dwarfism of prenatal onset, a severe microcephaly, a typical dysmorphic face (bird-like), and mild to severe intellectual disability.
Seckel syndrome
MCTD
Sharp syndrome
Mixed connective tissue disease (MCTD) is a rare connective tissue disorder combining clinical features of systemic lupus erythematosus (SLE), systemic sclerosis (SSc), polymyositis (PM) (see these terms) and/or rheumatoid arthritis (RA).
Mixed connective tissue disease
AS syndrome
Anti-Jo1 syndrome
Antisynthetase (AS) syndrome is a clinically heterogeneous form of idiopathic inflammatory myopathy characterized by myositis, arthralgia, Raynaud phenomenon, mechanic hands, interstitial lung disease (ILD, see this term), and serum autoantibodies to aminoacyl transfer RNA synthetases (anti-ARS).
Antisynthetase syndrome
, all of which cause bacillary dysentery and are strictly limited to human hosts.
Shigellosis
Pancreatic insufficiency and bone marrow dysfunction
Shwachman syndrome
Shwachman-Bodian-Diamond syndrome
Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation.
Shwachman-Diamond syndrome
Cherry-red spot-myoclonus syndrome
Lipomucopolysaccharidosis
Normomorphic sialidosis
Sialidosis type 1 (ST-1) is a very rare lysosomal storage disease, and is the normosomatic form of sialidosis (see this term), characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonic epilepsy and ataxia, that usually presents in the second to third decade of life.
Sialidosis type 1
Silver-Russell dwarfism
Silver-Russell syndrome is characterized by growth retardation with antenatal onset, characteristic facies and limb asymmetry.
Silver-Russell syndrome
Fatty acid alcohol oxidoreductase deficiency
Sjögren-Larsson syndrome (SLS) is a neurocutaneous disorder caused by an inborn error of lipid metabolism and characterized by congenital ichthyosis, intellectual deficit, and spasticity.
Sjögren-Larsson syndrome
Deciduous skin
Familial continuous skin peeling syndrome
Idiopathic deciduous skin
Keratosis exfoliativa congenita
PSS
Peeling skin disease
Peeling skin syndrome (PSS) refers to a group of rare autosomal recessive forms of ichthyosis (see this term) that is characterized clinically by superficial, asymptomatic, spontaneous peeling of the skin and histologically by a shedding of the outer layers of the epidermis. PSS presents with either an acral (acral PSS) or a generalized distribution (generalized PSS type A (non inflammatory) or B (inflammatory)) (see these terms). Some cases remain difficult to classify, suggesting that there could be additional subtypes of PSS.
Peeling skin syndrome
7-dehydrocholesterol reductase deficiency
RSH syndrome
SLOS
Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems.
Smith-Lemli-Opitz syndrome
17p11.2 microdeletion syndrome
Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay.
Smith-Magenis syndrome
Hereditary thrombophilia due to congenital antithrombin 3 deficiency
Hereditary thrombophilia due to congenital antithrombin deficiency is a rare, genetic, hematological disease characterized by decreased levels of antithrombin activity in plasma resulting in impaired inactivation of thrombin and factor Xa. Patients have an increased risk for venous thromboembolism, usually in the deep veins of the arms, legs and pulmonary system and, on occasion, in other venous territories (e.g. cerebral veins or sinus, mesenteric, portal, hepatic, renal and/or retinal veins).
Hereditary thrombophilia due to congenital antithrombin deficiency
Ehrmann-Sneddon syndrome
Livedo racemosa-cerebrovascular accident syndrome
Livedo reticularis-cerebrovascular accident syndrome
Sneddon's syndrome (SS) is a rare non-inflammatory thrombotic vasculopathy characterized by the combination of cerebrovascular disease with livedo racemosa.
Sneddon syndrome
EDS with periventricular heterotopia
Ehlers-Danlos syndrome (EDS) with periventricular heterotopia is a newly described variant of EDS.
Ehlers-Danlos syndrome with periventricular heterotopia
Cerebral gigantism
Sotos syndrome is a rare multisystemic genetic disorder characterized by a typical facial appearance, overgrowth of the body in early life with macrocephaly, and mild to severe intellectual disability.
Sotos syndrome
Minkowski-Chauffard disease
Hereditary spherocytosis is a congenital hemolytic anemia with a wide clinical spectrum (from symptom-free carriers to severe hemolysis) characterized by anemia, variable jaundice, splenomegaly and cholelithiasis.
Hereditary spherocytosis
Spina bifida is the most common of a group of birth defects called neural tube defects. The neural tube is the embryonic structure that develops into the brain and spinal cord. Often called open spine, spina bifida affects the backbone and, sometimes, the spinal cord. Aperta spina bifida defines the dorsal malclosure of vertebrae, associated with various degrees of spine defects. A pocket of skin may form, containing meninges (meningocele) or spinal cord and meninges (myelomeningocele).
Isolated spina bifida
Agnogenic myeloid metaplasia
Idiopathic myelofibrosis
Myelofibrosis with myeloid metaplasia
Osteomyelofibrosis
Myelofibrosis with myeloid metaplasia is a myeloproliferative disease with annual incidence of approximately 1 case per 100,000 individuals and age at diagnosis around 60 (an increased prevalence is noted in Ashkenazi Jews). Clinical manifestations depend on the type of blood cell affected and may include anemia, pallor, splenomegaly, hypermetabolic state, petechiae, ecchymosis, bleeding, lymphadenopathy, hepatomegaly, portal hypertension.
Primary myelofibrosis
, generally occurring by traumatic inoculation of fungus from contaminated soil, plants, and organic matter, that has a highly variable disease spectrum but that usually presents as a subcutaneous mycosis with a single sporotrichotic chancre that may ulcerate and can then progress to lymphocutaneous (most common form; sporotrichotic chancre at inoculation site and a string of similar nodules along the proximal lymphatics), fixed cutaneous (localized asymptomatic, erythematous, papules at the inoculation site), or multifocal or disseminated cutaneous (rare form, with 3 or more lesions involving 2 different anatomical sites) forms. Pulmonary sporotrichosis occurs following inhalation of fungus and manifests as chronic pneumonitis while extracutaneous or systemic sporotrichosis (with osteoarticular, pulmonary, and central nervous system/meningeal disease) has also been reported, usually occurring in the setting of immunosuppression.
Sporotrichosis
Fundus flavimaculatus
Stargardt 1
Stargardt disease, also known as Stargardt 1 (STGD1), is an autosomal recessive form of retinal dystrophy that is usually characterized by a progressive loss of central vision associated with irregular macular and perimacular yellow-white fundus flecks, and a so-called ''beaten bronze'' atrophic central macular lesion.
Hereditary progressive arthroophthalmopathy
Stickler syndrome is an inherited vitreoretinopathy characterized by the association of ocular signs with more or less complete forms of Pierre-Robin sequence (see this term), bone disorders, and sensorineural deafness (10% of cases).
Stickler syndrome
AOSD
Wissler-Fanconi syndrome
Adult-onset Still disease (AOSD) is a rare inflammatory multisystem disorder characterized clinically by fever of unknown origin, arthralgia or arthritis, hyperleucocytosis, and typical skin rash.
Adult-onset Still disease
Antley-Bixler syndrome is a very rare disorder characterised by craniosynostosis with midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures.
Antley-Bixler syndrome
Urogenital tract malformation
Congenital narrowing of cervical spinal canal
Congenital stenosis of the cervical spine
14mm), predisposing the individual to symptomatic neural compression, such as cramps, paresthesias, pain, muscle hypertonia and weakness, myelopathy and sphincter disturbances.
Congenital cervical spinal stenosis
OXCT1 deficiency
SCOT deficiency
Succinyl-CoA acetoacetate transferase deficiency
Succinyl-CoA:3-oxoacid CoA transferase deficiency
Succinyl-CoA:3-ketoacid CoA transferase deficiency (SCOTD) is a defect in ketone body utilization characterized by severe, potentially fatal intermittent episodes of ketoacidosis.
Succinyl-CoA:3-ketoacid CoA transferase deficiency
Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation.
Encephalopathy due to sulfite oxidase deficiency
Rocky Mountain spotted fever
Rickettsialpox
Mediterranean spotted fever
Boutonneuse fever
Epidemic typhus
Endemic typhus
Flea-borne typhus
Murine typhus
infection. Patients can be asymptomatic or can present with unspecific symptoms (such as fever, headache, generalized maculopapular rash, myalgia, arthralgia and, ocasionally, eschar, lymphadenopathy, nausea, vomiting, loss of appetite and abdominal pain). Rarely, serious manifestations may occur and include neurological dysfunction (photophobia, hearing loss, and signs of meningitis) and pulmonary compromise.
Pseudotyphus of California
Tsutsugamushi disease
Tsutsugamushi fever
bacterium and characterized clinically by an eruptive fever which is potentially serious.
Scrub typhus
Infantile spinal muscular atrophy
SMA type 1
SMA type I
SMA-I
Werdnig-Hoffmann disease
Proximal spinal muscular atrophy type 1 (SMA1) is a severe infantile form of proximal spinal muscular atrophy (see this term) characterized by severe and progressive muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.
Proximal spinal muscular atrophy type 1
Free sialic acid storage disease (free SASD), is a group of lysosomal storage diseases characterized by a spectrum of clinical manifestations including neurological and developmental disorders with severity ranging from the milder phenotype, Salla disease (SD), to the most severe phenotype, infantile free sialic acid storage disease (ISSD).
Free sialic acid storage disease
Chronic infantile spinal muscular atrophy
Chronic spinal muscular atrophy
Intermediate spinal muscular atrophy
SMA type 2
SMA type II
SMA-II
Proximal spinal muscular atrophy type 2 (SMA2) is a chronic infantile form of proximal spinal muscular atrophy (see this term) characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.
Proximal spinal muscular atrophy type 2
Juvenile spinal muscular atrophy
Kugelberg-Welander disease
SMA type 3
SMA type III
SMA-III
Proximal spinal muscular atrophy type 3 (SMA3) is a relatively mild form of proximal spinal muscular atrophy (see this term) characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.
Proximal spinal muscular atrophy type 3
SMA type 4
SMA type IV
SMA-IV
SMA4
Spinal muscular atrophy, adult form
Proximal spinal muscular atrophy type 4 (SMA4) is the adult-onset form of proximal spinal muscular atrophy (see this term) characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.
Proximal spinal muscular atrophy type 4
Ghost teeth
Regional odontodysplasia (ROD) is a localized developmental anomaly of the dental tissues.
Regional odontodysplasia
Florid osseous dysplasia
Focal cemento-osseous dysplasia
Florid cemento-osseous dysplasia (FCOD) is a rare fibro-osseous lesion in the jaw that predominantly affects middle-aged women of African descent. It is generally asymptomatic or may manifest with pain and gingival swelling. Radiologically, it is characterized by multiple dense lobulated bone lesions, often symmetrically located in various regions of the jaw.
Florid cemento-osseous dysplasia
Complex regional pain syndrome (CRPS) is a rare neurologic disease painful progressive condition that corresponds to a group of disorders characterized by a disproportionate spontaneous or stimulus-induced pain, accompanied by a variably mixed myriad of autonomic and motor disorders including symptoms such as swelling, allodynia, skin blood supply and trophic disturbances. CRPS most often affects one of the arms, legs, hands, or feet and usually occurs after an injury or trauma to that limb.
Complex regional pain syndrome
Vulvovaginal gingival syndrome
Glomangiomatosis
Hereditary multiple glomangiomas
Multiple glomus tumors
VMGLOM
Venous malformations with glomus cells
Glomuvenous malformations (GVMs) are hereditary vascular malformations characterized by the presence of small, multifocal bluish-purple venous lesions involving the skin.
Glomuvenous malformation
gene were identified in three affected siblings born to consanguineous parents.
Congenital primary aphakia
Microtia is a congenital malformation of the external ear, seen more frequently in males, that occurs sporadically or is inherited, that is characterized by unilateral (79-93% of cases, 60% of which involve the right ear) or bilateral small and abnormally shaped auricles and that is often associated with atresia or stenosis of the ear canal, attention deficit disorders and delayed language development. The variation in auricle size ranges from grade I, where the auricle is simply smaller than normal, to grade IV, also known as anotia (see this term), where there is a complete absence of the external ear and of the auditory canal.
Microtia
Narcolepsy without cataplexy
Narcolepsy without cataplexy is characterized by excessive day-time sleepiness associated with uncontrollable sleep urges and sometimes paralysis at sleep, hypnagogic hallucinations and automatic behavior.
Narcolepsy type 2
Limbic encephalitis-neuromyotonia-hyperhidrosis-polyneuropathy syndrome
Morvan's fibrillary chorea
Morvan syndrome is a rare, life-threatening, acquired neurologic disease characterized by neuromyotonia, dysautonomia and encephalopathy with severe insomnia. Signs involving central (e.g. hallucinations, confusion, amnesia, myoclonus), autonomic (e.g. variations in blood pressure, hyperhidrosis) and peripheral (e.g. painful cramps, myokymia) hyperactivity, as well as systemic manifestations (such as weight loss, pruritus, fever), are reported. Thymoma is present in some cases.
Morvan syndrome
Unicameral bone cyst
A solitary bone cyst is a benign non-epithelial bone cavity that is asymptomatic and that is found most commonly in the second decade of life by chance. The long bones are most often affected, but cases involving the jaw bone have been reported.
Solitary bone cyst
DSRCT
Desmoplastic small round cell tumor (DSRCT) is an aggressive soft tissue cancer that typically arises in serous lined surfaces of the abdominal or pelvic peritoneum, and spreads to the omentum, lymph nodes and hematogenously disseminates especially to the liver. Extraserous primary location has been reported in exceptional cases.
Desmoplastic small round cell tumor
Nezelof syndrome
Thymic aplasia
Cerebellar ataxia-intellectual disability-optic atrophy-skin abnormalities syndrome
SCAR5
CAMOS syndrome is characterised by the association of a non-progressive congenital ataxia, severe intellectual deficit, optic atrophy and structural anomalies of the skin vessels. It has been described in five children from a large consanguineous Lebanese family. Short stature and microcephaly were also reported. Transmission is autosomal recessive.
CAMOS syndrome
MPPH syndrome
Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome is characterized by megalencephaly, polymicrogyria, and hydrocephalus with variable polydactyly. It has been described in six unrelated patients. Intellectual deficit or slow development is also present. The mode of inheritance of this syndrome is unknown since all cases were sporadic.
Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
West-Nile fever
family transmitted by an infected mosquito, that is asymptomatic in the majority of cases but that can present in rare occasions with mild flulike symptoms such as low-grade fever, arthralgia, myalgia, and/or rash, or with neurologic manifestations including meningitis, encephalitis with mental confusion or disorientation, tremors and acute flaccid paralysis/poliomyelitis.
West-Nile encephalitis
. Patients typically present unspecific signs and symptoms, such as fever, nausea, vomiting, fatigue, prior to onset of neurological manifestations and frequently have a history of a respiratory tract infection (e.g. pneumonia, bronchiolitis, pharyngitis).
Mycoplasma encephalitis
Californian encephalitis
transmitted by an infected mosquito, usually observed in infants, children or adolescents (6 months to 16 years), and characterized by the onset of flulike symptoms such as fever, chills, nausea, vomiting, headache, and abdominal pain, followed by the onset of encephalitis characterized by somnolence, obtundation, and even seizures, focal neurologic signs (asymmetrical reflexes or Babinski signs), paralysis or even coma. CE can leave sequelae such as residual epilepsy and neurocognitive deficits.
La Crosse encephalitis
Saint Louis encephalitis
family transmitted by an infected mosquito, and characterized by the onset of flulike symptoms such as fever, malaise, headache, cough, and sore throat that can progress to meningitis or encephalitis with symptoms like nausea, vomiting, confusion, stiff neck, disorientation, irritability, tremors, and convulsions. Photophobia, cranial nerve palsies, and even coma may occur.
St. Louis encephalitis
Western equine encephalomyelitis
family transmitted by an infected mosquito, that more frequently affects children and that is characterized by the presence of mild flulike symptoms (fever, chills, headache, nausea, vomiting, and anorexia) but that can progress to weakness, altered mental status, photophobia, mental confusion, seizures, somnolence, coma and/or even death. The disease can leave neurological sequelae, mainly in infants and children, such as seizures, spasticity or behavioral disorders.
Western equine encephalitis
Eastern equine encephalomyelitis
family transmitted by an infected mosquito, that is characterized by the onset of flulike symptoms including fever, chills, weakness, headache, vomiting, abdominal pain with diarrhea, myalgia, leucocytosis, and hematuria, rapidly progressing to diffuse central nervous system (CNS) involvement with confusion, somnolence, or even coma. Seizures, which may progress to status epilepticus and neurologic sequelae, cranial nerve palsies, and photophobia may occur. EEE is associated with a high rate of morbidity and mortality.
Eastern equine encephalitis
American mountain fever
Colorado tick encephalitis
Colorado tick-borne disease
Mountain fever
Mountain tick fever
transmitted by an infected tick and characterized by a biphasic fever with headache, myalgias, arthralgias, and fatigue that can last 3 weeks or more. In some cases, macular, maculopapular, or petechial rash and/or stiff neck, nausea, vomiting, abdominal pain, diarrhea, and sore throat may also occur.
Colorado tick fever
ADEM
Acute disseminated encephalitis
Acute disseminated encephalomyelitis (ADEM) is a demyelinating disorder of the central nervous system.
Acute disseminated encephalomyelitis
Von Economo encephalitis
Encephalitis lethargica
Hashimoto encephalitis
SREAT
Steroid-responsive encephalopathy associated with autoimmune thyroiditis (SREAT) is a rare, acquired, neurological disease characterized by encephalopathy associated with elevated antithyroid antibodies, in the absence of other causes. Clinical presentation varies from minor cognitive impairment to status epilepticus and coma, and frequently includes seizures, confusion, speech disorder, memory impairment, ataxia and psychiatric manifestations.
Steroid-responsive encephalopathy associated with autoimmune thyroiditis
Rubella panencephalitis
Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome combines agammaglobulinemia with marked microcephaly, significant developmental delay, craniosynostosis, a severe dermatitis, cleft palate, narrowing of the choanae, and blepharophimosis. It has been described in three siblings, two males and one female, born to nonconsanguineous parents. Transmission is probably autosomal recessive. It has been suggested that this syndrome represents a new form of agammaglobulinemia due to a defect in early B-cell maturation.
Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_300751 with label: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
Severe dilated cardiomyopathy due to lamin A/C mutation
Macrostomia-preauricular tags-external ophthalmoplegia syndrome combines macrostomia or abnormal mouth contour, preauricular tags, uni- or bilateral ptosis and external ophthalmoplegia. It was described in nine members of a Brazilian family. It is a new phenotype belonging to the so-called oculoauriculovertebral spectrum, resulting from a branchial arch anomaly. Transmission is autosomal dominant.
Macrostomia-preauricular tags-external ophthalmoplegia syndrome
Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells
Enteric anendocrinosis is a very rare genetic gastroenterological disease characterized by severe malabsorptive diarrhea (requiring parenteral nutrition and disappearing at fasting) due to a lack of intestinal enteroendocrine cells. It is associated with early-onset (within the first weeks of life) dehydration, metabolic acidosis and diabetes mellitus (that can develop until late childhood). Patient may display various degrees of pancreatic insufficiency that does not explain diarrhea, as it is not reduced with pancreatic enzyme supplementation. Central hypogonadism (developing in the second decade), as well as an association with celiac disease have been reported.
Enteric anendocrinosis
Lower body hemangioma-urogenital anomalies-myelopathy-bony deformities-anorectal and arterial malformations-renal anomalies syndrome
PELVIS is an acronym defining the association of Perineal hemangioma, External genitalia malformations, Lipomyelomeningocele, Vesicorenal abnormalities, Imperforate anus, and Skin tag. Eleven cases have been reported.
LUMBAR syndrome
The association of leukoencephalopathy and metaphyseal chondrodysplasia has been reported in four men from a three-generation family. Onset manifests by spastic paraplegia at the age of 2, followed by tremor, ataxia, optic atrophy, and spastic tetraparesis. Transmission is X-linked and the gene responsible of the disease may be located at Xq25-q27.
Leukoencephalopathy-metaphyseal chondrodysplasia syndrome
Congenital disorder of glycosylation due to PIGM deficiency
PIGM-CDG
and blocks mannosylation of glycosylphosphatidylinositol (GPI), leading to partial but severe deficiency of GPI.
Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
Congenital hypochromic microcytic anemia with progressive liver iron overload paradoxically associated with normal to moderately elevated serum ferritin levels has been described in three unrelated patients.
Microcytic anemia with liver iron overload
gene, known to be involved in oral-facial-digital syndrome.
X-linked recessive intellectual disability-macrocephaly-ciliary dysfunction syndrome
RED-M
Retinocochleocerebral vasculopathy
Retinopathy-encephalopathy-deafness associated with microangiopathy
SICRET syndrome
Small infarctions of cochlear, retinal and encephalic tissue
Susac syndrome (SS) is a rare disorder characterized by the triad of central nervous system (CNS) dysfunction, branch retinal artery occlusions (BRAOs) and sensorineural hearing loss (SNHL). It is presumably due to autoimmune-mediated occlusions of microvessels in the CNS, the retina, and the inner ear.
Susac syndrome
Finnish congenital nephrosis
Congenital nephrotic syndrome, Finnish type is characterised by protein loss beginning during foetal life.
Congenital nephrotic syndrome, Finnish type
Fanconi pancytopenia
Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.
Fanconi anemia
Fistulous vegetative verrucous hydradenoma
Naevus syringocystadenomatosus papilliferus
SCAP
Syringadenoma papilliferum
Syringocystadenoma papilliferum (SCAP) is a rare non-malignant adnexal sweat gland neoplasm characterized by asymptomatic, skin-colored to pink papules or plaques with a highly variable appearance, most commonly in the head and neck area.
Syringocystadenoma papilliferum
Phenotypic diarrhea
SD/THE
Syndromic diarrhea/Tricho-hepato-enteric syndrome
Tricho-hepato-enteric syndrome
Trichohepatoenteric syndrome
Syndromic diarrhea (SD), or tricho-hepato-enteric syndrome (THE), is a severe congenital enteropathy manifesting as intractable diarrhea in the first month of life with failure to thrive and associated with facial dysmorphism, hair abnormalities, and, in some cases, immune disorders and intrauterine growth restriction.
Syndromic diarrhea
Idiopathic bile acid malabsorption
Idiopathic malabsorption due to increased acid bile synthesis is an intestinal disease of unknown etiology characterized by an overproduction of bile acids which leads to chronic watery diarrhea.
Idiopathic malabsorption due to bile acid synthesis defects
Boichis disease
Nephronophthisis-hepatic fibrosis syndrome
Boichis syndrome consists of the association of congenital nephronophthisis leading to renal failure, and hepatic fibrosis. It has been described in five members of one family, two of whom died from renal failure. The association of Boichis syndrome with tapetoretinal degeneration and intellectual deficit has also been reported in one family: the so-called Senior-Boichis syndrome could be in fact the same entity, and was later reported in a 12 year-old child.
Senior-Boichis syndrome
HAS
Hinman-Allen syndrome
Non-neurogenic neurogenic bladder
Occult neuropathic bladder
Hinman syndrome (HS) or non-neurogenic neurogenic bladder is a voiding dysfunction of the bladder of neuropsychological origin that is characterized by functional bladder outlet obstruction in the absence of neurologic deficits.
Hinman syndrome
Collagenofibrotic glomerulopathy
Collagen type III glomerulopathy is a rare glomerular disease characterized by abnormal accumulation of type III collagen within the mesangium and subendothelial space of the glomerulus. Clinically it usually manifests with proteinuria (often in the nephrotic range), microscopic hematuria, peripheral edema and/or hypertension. In some cases, progression to end-stage renal failure is observed.
Collagen type III glomerulopathy
GFND
Glomerulopathy with fibronectin deposits
Fibronectin glomerulopathy is a hereditary kidney disease characterized by proteinuria, type IV renal tubular acidosis, microscopic hematuria and hypertension that may lead to end-stage renal failure in the second to sixth decade of life.
Fibronectin glomerulopathy
Hereditary thermosensitive neuropathy is a rare, demyelinating, hereditary motor and sensory neuropathy characterized by reversible episodes of ascending muscle weakness, paresthesias and areflexia triggered by a febrile episode, with or without pressure palsy.
Hereditary thermosensitive neuropathy
use http://www.orpha.net/ORDO/Orphanet_68356 with label: Leukodystrophy
Steatocystoma multiplex
Sebocystomatosis is characterized by multiple (100 to 2000) asymptomatic dermal cysts that usually occur on the sternal region, upper back, axillae and proximal parts of the extremities.
Sebocystomatosis
Early-onset desmin-related myopathy
Desmin-related myopathy with Mallory body-like inclusions
Acquired neuromyotonia
Continuous muscle fiber activity syndrome
Isaac-Mertens syndrome
Peripheral nerve hyperexcitability
Quantal squander syndrome
Isaac's syndrome is an immune-mediated peripheral motor neuron disorder characterized by continuous muscle fiber activity at rest resulting in muscle stiffness, cramps, myokymia, and pseudomyotonia.
Isaac syndrome
Seminoma of testis
Seminomatous germ cell tumor of testis
Testicular seminoma
Testicular seminomatous germ cell tumor is a rare testicular germ cell tumor (see this term), most commonly presenting with a painless mass in the scrotum, with a very high cure rate if caught in the early stages.
Testicular seminomatous germ cell tumor
Sporadic idiopathic nephrosis
Steroid-resistant, sporadic idiopathic nephrotic syndrome, is a heterogeneous entity. Nephrotic syndrome is characterised by marked proteinuria, with reduced plasmatic levels of albumin, and potentially with oedema.
Sporadic idiopathic steroid-resistant nephrotic syndrome
Atrial tachyarrhythmia with short PR interval
LGL syndrome
Lown-Ganong-Levine syndrome is an extremely rare conduction disorder characterized by a short PR interval (less than or equal to 120 ms) with normal QRS complex on electrocardiogram associated with the occurrence of episodes of atrial tachyarrythmias (e.g. atrial fibrillation, atrial tachycardia).
Lown-Ganong-Levine syndrome
GM2 gangliosidosis, B, B1 variant
Hexosaminidase A deficiency
GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency.
Tay-Sachs disease
Alpha-thalassemia is an inherited hemoglobinopathy characterized by impaired synthesis of alpha-globin chains leading to a variable clinical picture depending on the number of affected alleles.
Alpha-thalassemia
ATR-X syndrome
X-linked alpha thalassaemia mental retardation (ATR-X) syndrome in males is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassaemia. Female carriers are usually physically and intellectually normal.
Alpha-thalassemia-X-linked intellectual disability syndrome
Beta-thalassemia (BT) is characterized by deficiency (Beta+) or absence (Beta0) of synthesis of the beta globin chains of hemoglobin (Hb).
Beta-thalassemia
Glanzmann thrombasthenia (GT) is a bleeding syndrome characterized by spontaneous mucocutaneous bleeding and an exaggerated response to trauma due to a constitutional thrombocytopenia.
Glanzmann thrombasthenia
CDA
Congenital dyserythropoietic anemia (CDA) is a heterogenous group of hematological disorders of late erythropoiesis and red cell abnormalities that lead to anemia. Five types of CDA are defined: CDA I, CDA II, CDA III, CDA IV and thrombocytopenia with CDA (see these terms).
Congenital dyserythropoietic anemia
Paris-Trousseau thrombocytopenia (TCPT) is a contiguous gene syndrome characterized by mild bleeding tendency, variable thrombocytopenia (THC), dysmorphic facies, abnormal giant alpha-granules in platelets and dysmegakaryopoiesis.
Paris-Trousseau thrombocytopenia
Perineurioma
FENIB
Familial encephalopathy with neuroserpin inclusion bodies
Palmoplantar hyperkeratosis-XX sex reversal-predisposition to squamous cell carcinoma syndrome
Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome is characterised by sex reversal in males with a 46, XX (SRY-negative) karyotype, palmoplantar hyperkeratosis and a predisposition to squamous cell carcinoma. To date, five cases (four of whom were brothers) have been described. The aetiology is unknown.
Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome
Västerbotten dystrophy
Bothnia retinal dystrophy is a rare form of retinal dystrophy, seen mostly in Northern Sweden, presenting in early childhood with night blindness and progressive maculopathy with a decrease in visual acuity, eventually leading to blindness by adulthood. Retinal degeneration, without obvious bone spicule formation, accompanied by affected visual fields and the typical presence of retinitis punctata albescens (see this term) in the posterior pole are also noted.
Bothnia retinal dystrophy
CLWM
Cystic leukoencephalopathy without megalencephaly is characterised by non-progressive leukoencephalopathy, bilateral cysts in the anterior part of the temporal lobe, cerebral white matter anomalies and severe psychomotor impairment. Less than 50 patients have been described in the literature so far. Inheritance is most likely autosomal recessive.
Cystic leukoencephalopathy without megalencephaly
Autoimmune Addison disease
Autoimmune adrenalitis
Classic Addison's disease
Primary Addison's disease
Addison disease (AD) is a chronic and rare endocrine disorder due to autoimmune destruction of the adrenal cortex and resulting in a glucocorticoid and mineralocorticoid deficiency. Properly speaking AD designates autoimmune adrenalitis, but it is a term commonly used to describe any form of chronic primary adrenal insufficiency (CPAI; see this term).
Addison disease
Kaeser syndrome
Stark-Kaeser syndrome
Neurogenic scapuloperoneal syndrome, Kaeser type
FOSMN syndrome
Facial onset sensory and motor neuronopathy is characterised initially by paraesthesia and numbness in the region of the trigeminal nerve distribution, which later progresses to involve the scalp, neck, upper trunk and upper limbs. Onset of motor manifestations occurs later with cramps, fasciculations, dysphagia, dysarthria, muscle weakness and atrophy. This syndrome has been described in four males and appears to be a slowly progressive neurodegenerative disease.
Facial onset sensory and motor neuronopathy
Hypomyelination-congenital cataract is characterized by the onset of cataract either at birth or in the first two months of life, delayed psychomotor development by the end of the first year of life and moderate intellectual deficit.
Hypomyelination-congenital cataract syndrome
CATSHL syndrome
Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterised by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth.
Camptodactyly-tall stature-scoliosis-hearing loss syndrome
SADDAN
gene; 4p16.3).
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome
PLSD-T
Platyspondylic dysplasia, Torrance-Luton type
Platyspondylic lethal skeletal dysplasia, Torrance type
gene. Although PLSD-T is generally lethal, survival to adulthood has been reported in two families.
Platyspondylic dysplasia, Torrance type
SMD-CRD
Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome is characterised by the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. So far, it has been described in eight individuals. Transmission appears to be autosomal recessive.
Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
Craniofacial conodysplasia is characterised by craniofacial dysplasia, cone-shaped physes of the hands and feet, and neurological manifestations resembling cerebral palsy. It has been described in one family. The syndrome appeared to be transmitted as a dominant trait.
Craniofacial conodysplasia
Familial digital arthropathy-brachydactyly is characterised by the association of arthropathy of interphalangeal, metacarpophalangeal and metatarsophalangeal joints with brachydactyly of the middle and distal phalanges. It has been described in numerous members from five generations of one large family. Inheritance is autosomal dominant.
Familial digital arthropathy-brachydactyly
Mesomelic dysplasia with absent fibulas and triangular tibias
Triangular tibia-fibular aplasia syndrome
Mesomelic dysplasia, Savarirayan type is characterised by severely hypoplastic and triangular-shaped tibiae, and absence of the fibulae. So far, two sporadic cases have been described. Moderate mesomelia of the upper limbs, proximal widening of the ulnas, pelvic anomalies and marked bilateral glenoid hypoplasia were also reported.
Mesomelic dysplasia, Savarirayan type
Microcephalic osteodysplastic dysplasia, Saul-Wilson type
Intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome
nital anomalies. It has been described in less than 20 cases. The patients also present with dysmorphic features (frontal bossing, broad nasal bridge, low-set ears). In boys, genital anomalies include bilateral cryptorchidism, hypospadias, micropenis, and hypogonadotropic hypogonadism. This syndrome is likely to be transmitted as an autosomal recessive trait.
IMAGe syndrome
Pseudodiastrophic dysplasia is characterized by rhizomelic shortening of the limbs and severe clubfoot deformity, in association with elbow and proximal interphalangeal joint dislocations, platyspondyly, and scoliosis. It has been described in about 10 patients. An autosomal recessive inheritance has been suggested. Pseudodiastrophic dysplasia differs from diastrophic dysplasia (see this term) on the basis of clinical, radiographic, and histopathologic findings. Clubfoot can be treated by surgical therapy, and neonatal contractures and scoliosis can be relieved by physical therapy. Several of the reported patients died in the neonatal period or during infancy.
Pseudodiastrophic dysplasia
Astley-Kendall dysplasia is a lethal skeletal dysplasia characterized by short limbed dwarfism, osteogenesis imperfecta, and punctate calcification within cartilage. It has been described in less than ten cases.
Astley-Kendall dysplasia
This syndrome is characterized by osteopetrosis, agenesis of the corpus callosum, cerebral atrophy and a small hippocampus.
Infantile osteopetrosis with neuroaxonal dysplasia
Bone dysplasia-medullary fibrosarcoma syndrome
Diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome
Hardcastle syndrome
Diaphyseal medullary stenosis with malignant fibrous histiocytoma is a very rare autosomal dominant bone dysplasia/cancer syndrome characterized clinically by bone infarctions, cortical growth abnormalities, pathological fractures, and development of bone sarcoma (malignant fibrous histiocytoma).
Diaphyseal medullary stenosis-bone malignancy syndrome
Craniometadiaphyseal dysplasia, wormian bone type is an extremely rare craniotubular bone dysplasia syndrome described in fewer than 10 patients to date. Clinical manifestations include macrocephaly, frontal bossing, malar hypoplasia, prominent mandible and dental hypoplasia. Other skeletal anomalies include abnormal bone modeling in tubular bones, multiple wormian bones and deformities of chest, pelvis and elbows. An increased risk of fractures is noted.
Craniometadiaphyseal dysplasia, wormian bone type
Endosteal sclerosis-cerebellar hypoplasia syndrome is characterized by congenital cerebellar hypoplasia, endosteal sclerosis, hypotonia, ataxia, mild to moderate developmental delay, short stature, hip dislocation, and tooth eruption disturbances. It has been described in four patients. Less common manifestations are microcephaly, strabismus, nystagmus, optic atrophy, and dysarthria. It is appears to be transmitted as an autosomal recessive trait.
Endosteal sclerosis-cerebellar hypoplasia syndrome
Metaphyseal dysplasia, Braun-Tinschert type is characterised by metapyhseal undermodeling with broadening of the long bones and femora with an 'Erlenmeyer flask'' appearance, expansion and bowing of the radii with severe varus deformity and flat exostoses of the long bones at the metadiaphyseal junctions.
Metaphyseal dysplasia, Braun-Tinschert type
Singleton-Merten syndrome
Singleton-Merten dysplasia is characterized by dental dysplasia, progressive calcification of the thoracic aorta with stenosis, osteoporosis and expansion of the marrow cavities in hand bones. Additional features included generalized muscle weakness and atrophy, and chronic psoriasiform skin eruptions. It has been reported in four unrelated patients (male and female) and in a family with multiple affected members (male).
Singleton-Merten dysplasia
Familial doughnut lesions of skull
This syndrome is characterised by multiple doughnut-shaped hyperostotic or osteosclerotic lesions of the calvaria.
Calvarial doughnut lesions-bone fragility syndrome
IJO
Juvenile osteoporosis
Idiopathic juvenile osteoporosis (IJO) is a primary condition of bone demineralization that presents with pain in the back and extremities, walking difficulties, multiple fractures, and radiological evidence of osteoporosis.
Idiopathic juvenile osteoporosis
Spondylo-ocular syndrome is a very rare association of spinal and ocular manifestations that is characterized by dense cataracts, and retinal detachment along with generalized osteoporosis and platyspondyly. Mild craniofacial dysphormism has been reported including short neck, large head and prominent eyebrows.
Spondylo-ocular syndrome
Hereditary expansile polyostotic osteolytic dysplasia
McCabe disease
Familial expansile osteolysis
Multicentric osteolysis-nodulosis-arthropathy syndrome
NAO syndrome
Nodulosis-arthropathy-osteolysis syndrome
Genochondromatosis is characterized by chondromatosis, typically involving the clavicles, upper end of the humerus, and lower end of the femur. Lesions are bilateral and symmetrical. It has been described four patients from the same family and is transmitted as an autosomal dominant trait. Another disorder, genochondromatosis II, shows strong similarities to genochondromatosis but is characterized by the involvement of the short tubular bones and by normal clavicles. It has been described in one unrelated family. Genochondromatosis II may also be inherited as an autosomal dominant trait. Genochondromatosis has a benign clinical course.
Genochondromatosis type 1
Dysspondyloenchondromatosis is a rare skeletal dysplasia characterized by anisospondyly and multiple enchondromas in vertebrae and the metaphyseal and diaphyseal parts of long tubular bones, leading to kyphoscoliosis and lower limb asymmetry.
Dysspondyloenchondromatosis
CAP syndrome
CDAGS syndrome
Craniosynostosis - anal anomalies - porokeratosis, or CDAGS, is a very rare condition characterized by craniosynostosis and clavicular hypoplasia, (C), delayed closure of the fontanel (D), anal anomalies (A), genitourinary malformations (G) and skin eruption (S).
Craniosynostosis-anal anomalies-porokeratosis syndrome
X-linked thrombocytopenia with normal platelets
Ischio-spinal dysostosis
Ischio-vertebral dysplasia
Ischio-vertebral syndrome is a very rare, poorly-defined bone disease characterized by ischial aplasia or hypoplasia, vertebral anomalies (vertebral malsegmentation, kyphoscoliosis), and in some patients, non-distinctive facial dysmorphism.
Ischio-vertebral syndrome
Absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome
Genitopatellar syndrome is a rare congenital patellar anomaly syndrome characterized by patellar aplasia or hypoplasia associated with microcephaly, characteristic coarse facial features (microcephaly, bitemporal narrowing, large, broad nose with high nasal bridge, prominent cheeks and micro/retrognathia or prognathism), arthrogryposis of the hips and knees, urogenital abnormalities and intellectual deficiency.
Genitopatellar syndrome
Pulmonic stenosis-brachytelephalangism-calcification of cartilages syndrome
Keutel syndrome is characterised by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism.
Keutel syndrome
ACRP syndrome
Syndactyly-preaxial polydactyly-sternal deformity syndrome
Acro-pectoral syndrome is characterized by a combination of distal limb abnormalities (syndactyly of all fingers and toes, preaxial polydactyly in the feet and/or hands) and upper sternum malformations. It has been described in 22 patients from a six-generation Turkish family. It is transmitted as an autosomal dominant trait and the causative gene is located at 7q36.
Acropectoral syndrome
Perinatal lethal Gaucher disease
Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD; see this term).
Fetal Gaucher disease
X-linked intellectual disability, Abidi type is characterized by X-linked intellectual deficit and mild variable manifestations, including short stature, small head circumference, sloping forehead, hearing loss, abnormally shaped ears, and small testes. It has been described in eight affected males from three generations.
X-linked intellectual disability, Abidi type
MRXS7
X-linked intellectual disability, Ahmad type
Syndromic X-linked intellectual disability 7, also called MRXS7, is characterized by X-linked intellectual deficit, obesity, hypogonadism, and tapering fingers.
Syndromic X-linked intellectual disability 7
MCOPS4
Syndromic microphthalmia type 4
Microphthalmia-ankyloblepharon-intellectual disability syndrome is characterized by microphthalmia, ankyloblepharon and intellectual deficit. It has been described in seven male patients from two generations of a Northern Ireland family. The causative gene is localized to the Xq27-q28 region. The syndrome is transmitted as an X-linked recessive trait.
Microphthalmia-ankyloblepharon-intellectual disability syndrome
Armfield syndrome
X-linked intellectual disability, Armfield type is characterised by intellectual deficiency, short stature, seizures, and small hands and feet. It has been described in six males from three generations of one family. Three of them also had cataracts/glaucoma and two of them had cleft palate. The locus has been mapped to the terminal 8 Mb of Xq28.
X-linked intellectual disability, Armfield type
X-linked Mental retardation Cantagrel type is characterised by marked neonatal hypotonia, progressive quadriparesia, severely delayed developmental milestones (walking at 3 years of age), gastroesophageal reflux, stereotypic movements of the hands, esotropia and infantile autism.
X-linked intellectual disability, Cantagrel type
X-linked Angelman-like syndrome
X-linked intellectual disability, South African type
X-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy syndrome
Christianson syndrome is a very rare form of syndromic intellectual deficit characterized by microcephaly, severe developmental delay or regression, hypotonia, abnormal movements, and early-onset seizures.
Christianson syndrome
) gene encoding a JmjC-domain protein with histone demethylase activity.
Syndromic X-linked intellectual disability due to JARID1C mutation
, mild microcephaly, a short philtrum, deep-set eyes, downslanting palpebral fissures and multiple nevi. Less than ten individuals have been described so far. Transmission is thought to be X-linked recessive.
X-linked intellectual disability-cubitus valgus-dysmorphism syndrome
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_1762 with label: Trisomy Xq28
X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome
MEHMO syndrome is characterised by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism, and obesity. Growth delay and diabetes are also present. To date, it has been described in seven boys, all of whom died within the first two years of life. The causative gene has been localised to the 21.1-22.13p region of the X chromosome and the syndrome appears to result from mitochondrial dysfunction.
MEHMO syndrome
X-linked mental retardation, Miles-Carpenter type is characterised by severe intellectual deficit, microcephaly, exotropia and low digital arches.
X-linked intellectual disability, Miles-Carpenter type
BRESHECK syndrome
X-linked mental retardation, Reish type is characterised by Brain anomalies, severe mental Retardation, Ectodermal dysplasia, Skeletal deformities (vertebral anomalies, scoliosis, polydactyly), Ear/eye anomalies (maldevelopment, small optic nerves, low set and large ears with hearing loss) and Kidney dysplasia/hypoplasia (giving the acronym BRESEK syndrome).
BRESEK syndrome
X-linked mental retardation, Schimke type, is characterised by intellectual deficit, growth retardation with short stature, deafness and ophthalmoplegia. Choreoathetosis with muscle spasticity generally appears during childhood. It has been described in four boys, three of whom were from the same family. Transmission is X-linked.
X-linked intellectual disability, Schimke type
Syndromic X-linked intellectual disability type 11
X-linked intellectual disability, Shashi type is characterised by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies (large ears, a prominent lower lip and puffy eyelids). It has been described in nine boys from two families. Transmission is X-linked and the causative gene has been localised to the q21.3-q27 region of the X chromosome.
X-linked intellectual disability, Shashi type
gene, localised to the p11.21 region of the X chromosome.
X-linked intellectual disability, Siderius type
gene, localised to the Xp11.2 region.
X-linked intellectual disability, Stocco Dos Santos type
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_85293 with label: X-linked intellectual disability, Cabezas type
X-linked intellectual disability, Vitale type
X-linked intellectual disability, Wilson type is characterised by severe intellectual deficit with mutism, epilepsy, growth retardation and recurrent infections. It has been described in three males from three generations of one family. The causative gene has been localised to the 11p region of the X chromosome.
X-linked intellectual disability, Wilson type
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_280 with label: Wolf-Hirschhorn syndrome
X-linked intellectual disability, Wittwer type
SCAX4
X-linked ataxia-dementia syndrome
Spinocerebellar ataxia, X-linked, type 4 is characterised by ataxia, pyramidal tract signs and adult-onset dementia. It has been described in three generations of one large family. The disease manifests during early childhood with delayed walking and tremor. The pyramidal signs appear progressively and by adulthood memory problems and dementia gradually become apparent. Transmission is X-linked but the causative gene has not yet been identified. The disease is usually fatal during the sixth decade of life.
X-linked spinocerebellar ataxia type 4
Cabezas syndrome
X-linked intellectual disability, Cabezas type is characterised by intellectual deficit, muscle wasting, short stature, a prominent lower lip, small testes, kyphosis and joint hyperextensibility. An abnormal gait, tremor, decreased fine motor coordination and impaired speech are also present. The syndrome has been described in six boys from three generations of the same family. Transmission is X-linked and the causative gene has been localised to the q24-q25 region of the X chromosome.
X-linked intellectual disability, Cabezas type
X-linked epilepsy-learning disabilities-behavior disorders syndrome is characterized by epilepsy, learning difficulties, macrocephaly, and aggressive behaviour. It has been described in males from a four-generation kindred. It is transmitted as an X-linked recessive trait and is likely to be caused by mutations in the gene encoding synapsin I (Xp11.3-q12).
X-linked epilepsy-learning disabilities-behavior disorders syndrome
HSD10 deficiency, atypical type
Syndromic X-linked intellectual disability type 10
X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome
HSD10 disease, atypical type
SCAX3
X-linked ataxia-deafness syndrome
X-linked spinocerebellar ataxia type 3 is a form of spinocerebellar degeneration characterized by onset in infancy of hypotonia, ataxia, sensorineural deafness, developmental delay, esotropia, and optic atrophy, and by a progressive course leading to death in childhood. It has been described one family with at least six affected males from five different sibships (connected through carrier females). It is transmitted as an X-linked recessive trait.
X-linked spinocerebellar ataxia type 3
NAIT
Foetal/neonatal alloimmune thrombocytopaenia (NAIT) results from maternal alloimmunisation against foetal platelet antigens inherited from the father and different from those present in the mother, and usually presents as a severe isolated thrombocytopaenia in otherwise healthy newborns.
Fetal and neonatal alloimmune thrombocytopenia
X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome is characterized by moderate intellectual deficit, bilateral single palmar creases, seizures, variable hypogammaglobulinemia and characteristic features (synophrys, prognathism, and hirsutism). It has been reported in three males from two generations of one family. All underwent progressive neurological deterioration. This syndrome is transmitted as an X-linked trait, and the causative gene is located between Xq21.33 and Xq23.
X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome
OBSOLETE: X-linked intellectual disability-precocious puberty-obesity syndrome
X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome is characterised by intellectual deficit, epilepsy, facial dysmorphism and progressive joint contractures. It has been described in two boys. Hypotonia and feeding problems at birth were also reported. The mode of transmission is X-linked.
X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome
Johnson syndrome
X-linked intellectual disability-macrocephaly-macroorchidism syndrome is characterised by intellectual deficit affecting both sexes, macrocephaly, and macroorchidism in the majority of affected males. It has been described in 12 individuals from two generations of one family. Other males from this family did not display intellectual deficit but did present macroorchidism and macrocephaly. Transmission is X-linked and the causative gene has been localised to the q12-q21 region of the X chromosome.
X-linked intellectual disability-macrocephaly-macroorchidism syndrome
Martin-Probst syndrome
X-linked deafness-intellectual disability syndrome syndrome
Deafness-intellectual disability syndrome, Martin-Probst type is characterised by severe bilateral deafness, intellectual deficit, umbilical hernia and abnormal dermatoglyphics. It has been described in three males from three generations of one family. Mild facial dysmorphism (telangiectasias, hypertelorism, dental anomalies and a wide nasal root) was also present. Short stature, pancytopaenia, microcephaly, and renal and genitourinary anomalies were present in some of the patients. The mode of transmission is X-linked recessive and the causative gene has been localised to the q1-21 region of the X chromosome.
Deafness-intellectual disability syndrome, Martin-Probst type
X-linked intellectual disability, Pai type is characterised by the association of dysmorphism with intellectual deficit. It has been described in four generations of one family. Premature death was reported in the affected males. Transmission is X-linked recessive and the causative gene has been localised to the q28 region of the X chromosome.
X-linked intellectual disability, Pai type
X-linked intellectual disability, Seemanova type is characterised by microcephaly, intellectual deficit, growth retardation and hypogenitalism. It has been described in four boys from one family. A characteristic facies and ophthalmologic anomalies were also present and included microphthalmia, microcornea and cataract. Transmission is X-linked.
X-linked intellectual disability, Seemanova type
MRXS9
X-linked intellectual disability, Shrimpton type is characterised by the association of severe intellectual deficit with microcephaly, strabismus and short stature. It has been described in three boys from two unrelated families. Transmission is X-linked recessive and the causative gene has been localised to the q12-Xq21.31 region of the X-chromosome.
X-linked intellectual disability, Shrimpton type
, a characteristic face and small teeth. It has been described in four males from two generations of one family. The causative gene appears to be located in the q13 region of the X chromosome.
X-linked intellectual disability, Stevenson type
X-linked intellectual disability, Stoll type is characterised by intellectual deficit, short stature and characteristic facies (hypertelorism, prominent forehead, frontal bossing, a broad nasal tip and anteverted nares). It has been described in four males from three generations of the same family. Two females from this family also displayed intellectual deficit and the characteristic facies. Transmission is X-linked.
X-linked intellectual disability, Stoll type
X-linked intellectual disability-acromegaly-hyperactivity syndrome is characterised by severe intellectual deficit, acromegaly and hyperactivity. The syndrome has been described in two half-brothers. Dysarthria, aggressive behaviour, a characteristic facies (an acromegalic and triangular face with a long nose) and macroorchidism were also present. The mother displayed moderate intellectual deficit and milder facial anomalies. Central nervous system anomalies were identified in the two boys: subarachnoid cysts and hyperdensity in the pontine region.
X-linked intellectual disability-acromegaly-hyperactivity syndrome
X-linked intellectual disability, Turner type is characterised by moderate to severe intellectual deficit in boys and moderate intellectual deficit in girls. It has been described in 14 members from four generations of one family. Macrocephaly was reported and holoprosencephaly may also be present (two family members). The mode of transmission is X-linked semi-dominant.
X-linked intellectual disability, Turner type
X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome is characterised by severe intellectual deficit, hypotonia, mild facial dysmorphism, and aggressive behaviour. It has been described in 10 male members spanning four generations of one family. The facial dysmorphism includes a high forehead, prominent ears, and a small pointed chin. Height and head circumference are reduced. This disorder is transmitted as an X-linked recessive trait and the causative gene maps to Xp22.
X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome
X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome is characterised by intellectual and motor deficit, spastic quadriparesis and agenesis of the corpus callosum, without craniofacial abnormalities or seizures. It has been described in four male members of a family. The mode of inheritance is most likely X-linked recessive.
X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome
use http://www.orpha.net/ORDO/Orphanet_3055 with label: X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome
OBSOLETE: X-linked intellectual disability-obesity-short stature syndrome
Aldred syndrome
Retinitis pigmentosa and intellectual disability due to Xp11.3 microdeletion
Retinitis pigmentosa and intellectual disability due to del(X)(p11.3)
Retinitis pigmentosa and intellectual disability due to monosomy Xp11.3
X-linked intellectual disability-retinitis pigmentosa syndrome is characterized by moderate intellectual deficit and severe, early-onset retinitis pigmentosa. It has been described in five males spanning three generations of one family. Some patients also had microcephaly. It is transmitted as an X-linked recessive trait.
X-linked intellectual disability-retinitis pigmentosa syndrome
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_702 with label: Pelizaeus-Merzbacher disease
X-linked intellectual disability-spastic paraplegia with iron deposits syndrome
X-linked neurodegenerative syndrome, Bertini type is characterised by generalised hypotonia, psychomotor deficit, congenital ataxia and recurrent bronchopulmonary infections. It has been described in seven males from three generations of a family. Five of them died during the first years of life and the remaining patients developed myoclonic encephalopathy and macular degeneration. The locus has been mapped to Xp22.33-pter.
X-linked neurodegenerative syndrome, Bertini type
Fried syndrome is a rare X-linked mental retardation (XLMR) syndrome characterized by psychomotor delay, intellectual deficit, hydrocephalus, and mild facial anomalies.
Fried syndrome
X-linked neurodegenerative syndrome, Hamel type is an X-linked neurodegenerative disorder characterised by intellectual deficit, blindness, convulsions, spasticity, mild hypomyelination and early death. It has been described in about ten male members from two generations of one family. The genetic defect responsible for the disorder is located in the pericentromeric region of the X chromosome, Xp11.3-q12.
X-linked neurodegenerative syndrome, Hamel type
X-linked intellectual disability, Zorick type
X-linked intellectual disability-ataxia-apraxia syndrome is characterised by ataxia, apraxia, intellectual deficit and/or seizures. It has been described in nine males in two unrelated Danish families. It is transmitted as an X-linked recessive syndrome with partial clinical expression in obligate female carriers.
X-linked intellectual disability-ataxia-apraxia syndrome
Non-cirrhotic portal vein thrombosis
Portal vein thrombosis (PVT) is associated with acute (recent) or chronic (long-standing) thrombosis of the portal system.
Primitive portal vein thrombosis
Juvenile rheumatoid factor-negative polyarthritis
Polyarthritis without rheumatoid factor
Rheumatoid factor-negative JIA
Rheumatoid factor-negative polyarthritis is a term used to describe a group of poorly defined heterogenous conditions that incorporates forms of rheumatoid factor-negative polyarthritis and forms of oligoarticular arthritis that become extensive in less than 6 months after onset.
Rheumatoid factor-negative juvenile idiopathic arthritis
Oligoarticular JIA
Pauciarticular chronic arthritis
Oligoarticular juvenile arthritis is the most common form of juvenile idiopathic arthritis (JIA), representing nearly 50% of cases.
Oligoarticular juvenile idiopathic arthritis
Still disease
Systemic polyarthritis
Systemic-onset JIA
Systemic-onset juvenile idiopathic arthritis is marked by the severity of the extra-articular manifestations (fever, cutaneous eruptions) and by an equal sex ratio.
Systemic-onset juvenile idiopathic arthritis
Juvenile idiopathic rheumatoid factor-positive polyarthritis
Polyarthritis with rheumatoid factor
Rheumatoid factor-positive polyarticular JIA
Rheumatoid factor-positive polyarthritis is a juvenile idiopathic arthritis (JIA) representing the paediatric form of rheumatoid polyarthritis in adults.
Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis
Juvenile psoriatic arthritis
Psoriasis-related JIA
Juvenile psoriatic arthritis is a relatively rare form of juvenile idiopathic arthritis (JIA) representing less than 10% of all JIA cases.
Psoriasis-related juvenile idiopathic arthritis
ERA
Enthesitis-related JIA
Enthesitis-related arthritis is a type of juvenile idiopathic arthritis (JIA) that represents the paediatric form of spondylarthropathy in adults.
Enthesitis-related juvenile idiopathic arthritis
gene (1q25).
Short stature-pituitary and cerebellar defects-small sella turcica syndrome
Light-chain amyloidosis
Primary amyloidosis
AL Amyloidosis is a plasma cell disorder characterized by the aggregation and deposition of insoluble amyloid fibrils derived from misfolding of monoclonal immunoglobulin light chains usually produced by a plasma cell tumor (see this term). It usually presents as primary systemic amyloidosis (PSA) with multiple organ involvement and less frequently as primary localized amyloidosis (PLA; see these terms) restricted to a single organ.
AL amyloidosis
Inflammatory amyloidosis
Reactive amyloidosis
Secondary amyloidosis
Secondary amyloidosis is a form of amyloidosis (see this term), that complicates chronic inflammatory disorders (mainly rheumatoid arthritis, see this term) and is characterized by the aggregation and deposition of amyloid fibrils composed of serum amyloid A protein, an acute phase reactant. Although spleen, suprarenal gland, liver and gut are frequent sites of amyloid deposition, the clinical picture is dominated by renal involvement.
AA amyloidosis
ABeta2Mwt amyloidosis
Dialysis-related amyloidosis
Dialysis-related arthropathy
Wild type ABeta2-microglobulinic amyloidosis
#946;2M) deposits in the musculoskeletal system leading to carpal tunnel syndrome (CTS), chronic arthropathy, cystic bone lesions, destructive osteoarthropathy, and pathologic fractures.
Wild type ABeta2M amyloidosis
ATTRV30M-related amyloidosis
Familial amyloid polyneuropathy type I
Familial amyloid polyneuropathy, Portuguese-Swedish-Japanese type
TTR amyloid neuropathy
Transthyretin amyloid neuropathy
Transthyretin amyloid polyneuropathy
Familial amyloid polyneuropathy (FAP) or transthyretin (TTR) amyloid polyneuropathy is a progressive sensorimotor and autonomic neuropathy of adulthood onset. Weight loss and cardiac involvement are frequent; ocular or renal complications may also occur.
ATTRV30M amyloidosis
Familial amyloid polyneuropathy type IV
Familial amyloidosis, Finnish type
Gelsolin amyloidosis
Hereditary amyloidosis, Finnish type
AGel amyloidosis is a rare, systemic amyloidosis characterized by a triad of ophthalmologic, neurologic and dermatologic findings due to the deposition of gelsolin amyloid fibrils in these tissues. Clinical manifestations include corneal lattice dystrophy, cranial neuropathy, especially affecting the facial nerve, bulbar signs, cutis laxa, increased skin fragility, and less commonly peripheral neuropathy and renal failure.
AGel amyloidosis
Amyloidosis, Ostertag type
Familial amyloid nephropathy
Familial renal amyloidosis
Hereditary amyloid nephropathy
Hereditary renal amyloidosis
Hereditary amyloidosis with primary renal involement
ATTR cardiomyopathy
ATTRV122I-related amyloidosis
TTR-related amyloid cardiomyopathy
TTR-related cardiac amyloidosis
Transthyretin amyloid cardiopathy
Transthyretin-related familial amyloid cardiomyopathy
Transthyretin (TTR)-related familial amyloidotic cardiomyopathy is a hereditary TTR-related systemic amyloidosis (ATTR) with predominant cardiac involvement resulting from myocardial infiltration of abnormal amyloid protein.
ATTRV122I amyloidosis
Familial cutaneous amyloidosis
PDR
Partington disease
X-linked cutaneous amyloidosis
XLPDR
X-linked reticulate pigmentary disorder is an extremely rare skin disease described in only four families to date and characterized in males by diffuse reticulate brown hyperpigmentated skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localized brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature.
X-linked reticulate pigmentary disorder
HCHWA
Hereditary cerebral hemorrhage with amyloidosis (HCHWA) describes a group of rare familial central nervous system disorders characterized by amyloid deposition in the cerebral blood vessels leading to hemorrhagic and non-hemorrhagic strokes, focal neurological deficits, and progressive cognitive decline eventually leading to dementia.
Hereditary cerebral hemorrhage with amyloidosis
Imperforate anus with hand, foot and ear anomalies
REAR syndrome
Renal-ear-anal-radial syndrome
Sensorineural deafness with imperforate anus and hypoplastic thumbs
TBS
Townes syndrome
Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart.
Townes-Brocks syndrome
Mother-to-child transmission of toxoplasmosis
Toxoplasma embryofetopathy
Toxoplasma embryopathy
(Tg).
Congenital toxoplasmosis
Inherited deficiency of transcobalamin
Transcobalamin II deficiency
Transcobalamin deficiency (TC) is a disorder of cobalamin transport that usually presents during the first few months of life and is characterized by megaloblastic anemia, failure to thrive, vomiting, weakness and pancytopenia.
Transcobalamin deficiency
Familial abdominal aortic aneurysm
Congenitally uncorrected transposition of the great vessels
Isolated ventriculoarterial discordance
Ventriculoarterial discordance with atrioventricular concordance
Congenitally uncorrected transposition of the great arteries (congenitally uncorrected TGA), also referred to as complete transposition, is a congenital cardiac malformation characterized by atrioventricular concordance and ventriculoarterial (VA) discordance.
Congenitally uncorrected transposition of the great arteries
Franceschetti-Klein syndrome
Mandibulofacial dysostosis without limb anomalies
Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects.
Treacher-Collins syndrome
Trichinosis
and that is characterized by an enteral (intestinal) phase, that can be asymptomatic or that can manifests with diarrhea, nausea, vomiting and abdominal pain, and a parenteral (muscular) phase, manifesting with fever, periorbital edema, muscle swelling and pain, weakness, and in some cases, skin rash and peripheral edema. Rarely, potentially fatal cardiac (i.e. myocarditis), pulmonary (i.e. pneumonitis, respiratory failure), and nervous system (i.e. meningoencephalitis) complications may occur.
Trichinellosis
CDG syndrome type Ij
CDG1J
Carbohydrate deficient glycoprotein syndrome type Ij
Congenital disorder of glycosylation type 1j
Congenital disorder of glycosylation type Ij
Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency
DPAGT1-CDG
Trichofolliculoma is a rare benign follicular hamartoma that develops primarily on the face of adults, with a particular predilection for the back of the nose, but also on the neck or scalp. It presents as a solitary hemispheric flesh-colored nodule with a central pore or black dot that may contain a tuft of hair.
Trichofolliculoma
Familial multiple trichoepithelioma
gene, encoding the WASP protein.
X-linked severe congenital neutropenia
PTLAH
Isolated patella aplasia-hypoplasia is an extremely rare genetic condition characterized by congenital absence or marked reduction of the patellar bone described in only a few families to date.
Patella aplasia/hypoplasia
Papular mucinosis
Localized lichen myxedematosus is a group of skin diseases characterized by the development of papules, nodules and/or plaques with mucin deposits and a variable degree of fibrosis in the absence of thyroid disease. The group comprises five sub-forms: nodular lichen myxedematosus, discrete papular lichen myxedematosus, papular mucinosis of infancy, acral persistent papular mucinosis and self-healing papular mucinosis.
Localized lichen myxedematosus
Intermediate lichen myxedematosus
Atypical lichen myxedematosus is an intermediate form of lichen myxedematosus (LM) (a form of mucin dermal deposit) which does not meet the criteria for either scleromyxedema or the localized form (see these terms). Three clinical subtypes have been described and include scleromyxedema without monoclonal gammopathy; localized forms with monoclonal gammopathy and/or systemic symptoms; localized forms with mixed features of the 5 subtypes of localized LM (discrete form, acral persistent papular mucinosis, self-healing papular mucinosis, papular mucinosis of infancy, and a pure nodular form) (see these terms). The course of atypical LM is unpredictable because only a few cases have been reported.
Atypical lichen myxedematosus
Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration.
Triose phosphate-isomerase deficiency
Limb-girdle muscular dystrophy-intellectual disability syndrome
Autosomal recessive limb-girdle muscular dystrophy type 2K (LGMD2K) is a form of limb-girdle muscular dystrophy characterized by the onset of slowly progressive proximal muscle weakness during childhood (with fatigue and difficulty running and climbing stairs) and developmental delay. Mild intellectual deficit and microcephaly, without any obvious structural brain abnormality, are found in all patients. Mild pseudohypertrophy and joint contractures of the ankles have also been reported.
Autosomal recessive limb-girdle muscular dystrophy type 2K
Atrophia areata
SCRA
Sveinsson chorioretinal atrophy
Helicoid peripapillary chorioretinal degeneration is a rare autosomal dominantly inherited chorioretinal degeneration disease, presenting at birth or infancy, characterized by progressive bilateral retinal and choroidal atrophy, appearing as lesions on the optic nerve and peripheral ocular fundus and leading to central vision loss. Congenital anterior polar cataracts are sometimes associated with this disease.
Helicoid peripapillary chorioretinal degeneration
ADCME
Autosomal dominant cortical myoclonus and epilepsy
BAFME
Benign adult familial myoclonus epilepsy
FAME
FCMTE
Familial adult myoclonic epilepsy
Familial cortical myoclonic tremor and epilepsy
Benign adult familial myoclonic epilepsy (BAFME) is an inherited epileptic syndrome characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course, and no signs of early dementia or cerebellar ataxia.
Benign adult familial myoclonic epilepsy
ALSG
Congenital absence of lacrimal puncta and salivary glands
Aplasia of the lacrimal and salivary glands (ALSG) is a rare autosomal dominant disorder characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary glands leading to varying features since infancy such as recurrent eye infections, irritable eyes, epiphora, xerostomia, dental caries, dental erosion and oral inflammation.
Aplasia of lacrimal and salivary glands
Congenital analbuminemia (CAA) is characterized by the absence or dramatic reduction of circulating human serum albumin (HSA).
Congenital analbuminemia
Hemolytic anemia due to adenylate kinase deficiency is a rare hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by moderate to severe chronic nonspherocytic hemolytic anemia that may require regular blood transfusions and/or splenectomy and may be associated with psychomotor impairment.
Hemolytic anemia due to adenylate kinase deficiency
AMME complex
AMME syndrome
ATS-MR
Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome
Papular atrichia
Atrichia with papular lesions is a rare inherited form of alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body, later associated with the development of papular lesions all over the body and preferentially on the face and extensor surfaces of the extremities.
Atrichia with papular lesions
Familial osteonecrosis of the femoral head
Avascular necrosis of femoral head (ANFH) is a severely disabling disease characterised by progressive groin pain, a limping gait, leg length discrepancy, collapse of the subchondral bone, limitation of hip function and eventual degeneration of the hip joint requiring total hip arthroplasty.
Familial avascular necrosis of femoral head
Lissencephaly type 3-familial fetal akinesia sequence syndrome is characterised by the association of microencephaly, agenesis of the corpus callosum, brainstem hypoplasia, cystic cerebellum and foetal akinesia sequence. Less than 10 cases have been described so far. The syndrome is transmitted as an autosomal recessive trait and may be an allelic variant of Neu-Laxova syndrome and lissencephaly type III with metacarpal bone dysplasia (see these terms).
Lissencephaly type 3-familial fetal akinesia sequence syndrome
This syndrome is characterised by severe microcephaly, agyria, agenesis of the corpus callosum, cerebellar hypoplasia, facial dysmorphology and epiphyseal stippling of the metacarpal bones. It has been described in two brothers. The syndrome is transmitted as an autosomal recessive trait and may be an allelic variant of Neu-Laxova syndrome and Lissencephaly type III with cystic dilations of the cerebellum and foetal akinesia sequence (see these terms).
Lissencephaly type 3-metacarpal bone dysplasia syndrome
LCH
-3 SD). LCH is characterized by cerebellar underdevelopment ranging from vermian hypoplasia to total aplasia with classical or cobblestone lissencephaly. The phenotypic features of LCH include small head circumference (between -2 and -3 standard deviations (SD) forage) at birth and postnatally, moderate to severe intellectual disability, hypotonia and spasticity. Seizures are often observed and infantile spasms have been reported in some rare cases. LCH has been classified into six subgroups according to neuroradiographic properties and are classified LCH type A to F.
Lissencephaly with cerebellar hypoplasia
Chronic neutrophilic leukemia
CMPD-U
Undifferentiated myeloproliferative disease
Chronic myeloproliferative disease, unclassifiable is a hematological neoplasm characterized by clonal proliferation of myeloid precursors in the bone marrow, blood and other tissues (spleen, liver), with clinical, morphological and molecular features of myeloproliferative neoplasms (MPN), failing to meet criteria of a specific MPN. The presentation is nonspecific and variable and often includes leukocytosis, thrombocytosis and anemia. Splenomegaly, hepatomegaly as well as fatigue, malaise or weight loss may appear in advanced stages.
Chronic myeloproliferative disease, unclassifiable
JMML
Juvenile chronic myelomonocytic leukemia
Juvenile myelomonocytic leukemia
Refractory cytopenias with multilineage dysplasia (RCMD) is a frequent subtype of myelodysplastic syndrome (MDS; see this term) characterized by 1 or more cytopenias in the peripheral blood and dysplasia in 2 or more myeloid lineages.
Refractory cytopenia with multilineage dysplasia
Refractory anemia with excess blasts (RAEB) is a frequent severe subtype of myelodysplastic syndrome (MDS; see this term) characterized by cytopenias with unilineage or multilineage dysplasia and 5% to 19% blasts in bone marrow or blood.
Refractory anemia with excess blasts
5q- syndrome
Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality
Acute myelodysplasia with myelofibrosis
Acute myelofibrosis
Acute myelosclerosis
Acute panmyelosis with myelofibrosis
AML with multilineage dysplasia
AML with myelodysplasia-related features
Acute myeloid leukemia with multilineage dysplasia
Acute myeloid leukaemia with myelodysplasia-related features
Secondary AML
Secondary acute myeloid leukemia
Therapy-related AML and myelodysplastic syndrome
Therapy related acute myeloid leukemia and myelodysplastic syndrome
Acute basophilic leukemia
Chloroma
Extramedullary myeloid tumor
Granulocytic sarcoma
Myeloid sarcoma is a rare solid tumor of the myelogenous cells occurring in an extramedullary site.
Myeloid sarcoma
Acute leukemia of indeterminate lineage
Hybrid acute leukemia
Mixed lineage acute leukemia
Mixed phenotype acute leukemia
Acute leukemia of ambiguous lineage
B-PLL
B-cell prolymphocytic leukemia
SMZL
Splenic marginal zone lymphoma is a rare, indolent B-cell non-Hodgkin lymphoma characterized by abnormal clonal proliferation of mature B-lymphocytes with involvement in the spleen, bone marrow and, frequently, the blood. It usually presents with splenomegaly, lymphocytosis, anemia and/or thrombocytopenia. Hepatitis C virus and autoimmune manifestations, such as autoimmune hemolytic anemia and autoimmune thrombocytopenia, could be associated.
Splenic marginal zone lymphoma
Solitary plasmacytoma
Plasmacytoma is a localized mass of neoplastic monoclonal plasma cells that represents approximately 5% of all plasma cell neoplasms. There are two separate entities: primary plasmacytoma of the bone and extramedullary plasmacytoma of the soft tissues. Of the extramedullary plasmacytomas, 80% occur in the head and neck, usually in the upper respiratory tract. The median age at diagnosis is 50 years and the male to female ratio is 3:1. Long-term survival is possible following local radiotherapy, particularly for soft tissue presentations.
Plasmacytoma
Non-amyloid MIDD
Randall disease
Non-amyloid monoclonal immunoglobulin deposition disease
HCD
Heavy-chain diseases (HCDs) are rare monoclonal lymphoplasma-cell proliferative disorders involving B cells and are characterized by the synthesis of truncated heavy chains without associated light chains.
Heavy chain disease
NMZL
Nodal marginal zone B-cell lymphoma is a rare, indolent B-cell non-Hodgkin lymphoma, characterized by abnormal clonal proliferation of mature B-lymphocytes with involvement of the lymph nodes, sometimes the bone marrow, and rarely the blood. Clinically it presents with disseminated peripheral, abdominal and/or thoracic lymphadenopathy. Cytopenia and bulky tumors (greater than 5 cm) are rare. Association with Hepatitis C virus and chronic inflammation has been reported.
Nodal marginal zone B-cell lymphoma
LYG
Lymphomatoid granulomatosis (LYG) is a very rare Epstein-Barr virus (EBV)-driven lymphoproliferative disease most commonly occurring in adults (in the fourth to sixth decade of life) and commonly affecting the lungs (with presentations varying from small bilateral pulmonary nodules to large necrotic and sometimes cavitating lesions), skin, central nervous system, and kidneys, but only very rarely affecting the lymph nodes and spleen. The symptoms associated with LYG depend on the site of disease involvement but mainly include cough, dyspnea or chest pain (in those with pulmonary involvement) and constitutional symptoms such as weight loss and fever.
Lymphomatoid granulomatosis
BPDCN
Blastic NK-cell lymphoma
Blastic plasmacytoid dendritic cell neoplasm
Lymphoblastoid variant of NK-cell lymphoma
Monomorphic NK-cell lymphoma
CD4+/CD56+ hematodermic neoplasm
T-PLL
T-cell chronic lymphocytic leukemia
T-cell prolymphocytic leukemia
Proliferation of large granular lymphocytes
T-LGL
T-cell LGL leukemia
T-cell large granular lymphocyte leukemia (T-cell LGL leukemia) is a lymphoproliferative malignancy that arises from the mature T-cell (CD3+) lineage.
T-cell large granular lymphocyte leukemia
ANKCL
Aggressive NK-cell lymphoma
NK-cell LGL leukemia
NK-cell large granular lymphocyte leukemia
Aggressive NK-cell leukemia (ANKCL) is an extremely rare and highly aggressive neoplasm, usually manifesting in the third to fourth decade of life, affecting males and females equally, and characterized by the onset of high fever, weight loss, jaundice, skin infiltration, lymphadenopathy, hepatosplenomegaly, and severe anemia. ANKCL has a fulminant and rapidly fatal disease course with the progressive appearance of multiorgan failure and disseminated intravascular coagulation.
Aggressive NK-cell leukemia
ATLL
Adult T-cell leukemia/lymphoma
Angiocentric T-cell lymphoma
Lethal midline granuloma
NK/T-cell lymphoma
NKTCL
Nasal T/natural killer-cell lymphoma
Extranodal nasal NK/T cell lymphoma (NKTCL) is a rare, malignant neoplasm mainly affecting men in the fifth decade of life, that usually arises in the nose, paranasal sinuses, orbits or upper airway, and that can present with a nasal mass, nasal bleeding, nasal obstruction, palate perforation (i.e. midline perforation of the hard palate), and mid-facial and/or upper airway destructive lesions. In advanced disease stages, which are associated with a poor prognosis, NKTCL may disseminate to other organs. A few cases of NKTCL presenting primarily in the lymph nodes have also been described.
Extranodal nasal NK/T cell lymphoma
EATL
ETTL
Enteropathy-type T-cell lymphoma
Intestinal T-cell lymphoma
Enteropathy-associated T-cell lymphoma
Hepatosplenic T-cell lymphoma
SPTCL
Subcutaneous panniculitic T-cell lymphoma
Subcutaneous panniculitis-like T-cell lymphoma (SPTCL) is a rare cytotoxic cutaneous lymphoma that has been recognized as a distinct subset of peripheral T-cell lymphomas originating and presenting primarily in the subcutaneous fat tissue.
Subcutaneous panniculitis-like T-cell lymphoma
Primary cutaneous peripheral T-cell lymphoma NOS
Primary cutaneous unspecified peripheral T-cell lymphoma
Primary cutaneous peripheral T-cell lymphoma not otherwise specified
AILT
Immunoblastic lymphadenopathy
Lymphogranulomatosis X
T-cell lymphoma, AILD type
Angioimmunoblastic T-cell lymphoma
NLPHL
Nodular lymphocyte predominant Hodgkin lymphoma (NLPHL) is a rare subtype of Hodgkin lymphoma (HL; see this term) characterized histologically by malignant lymphocyte predominant (LP) cells and the absence of typical Hodgkin and Reed-Sternberg (HRS) cells.
Nodular lymphocyte predominant Hodgkin lymphoma
Histiocytic sarcoma
Langerhans cell sarcoma
2A syndrome
3A syndrome
4A syndrome
AAA syndrome
Achalasia-addisonianism-alacrima syndrome
Adrenal insufficiency-achalasia-alacrima syndrome
Allgrove syndrome
Double A syndrome
Quaternary A syndrome
Triple A syndrome is a very rare multisystem disease characterized by adrenal insufficiency with isolated glucocorticoid deficiency, achalasia, alacrima, autonomic dysfunction and neurodegeneration.
Triple A syndrome
Interdigitating cell sarcoma
Reticulum cell sarcoma
Interdigitating dendritic cell sarcoma
Follicular dendritic cell sarcoma
Dendritic cell sarcoma not otherwise specified
MTX-LPD
MTX-associated lymphoproliferative disorders
Methotrexate-associated lymphoproliferative disorders are rare immunodeficiency-associated lymphoproliferative diseases characterized by lymphoid proliferation or lymphomas (large B-cell lymphoma, T-cell lymphoma, Hodgkin lymphoma, reactive lymphadenitis and a polymorphic post-transplant lymphoproliferative disorder) that develop in patients with different autoimmune diseases treated with methotrexate. Swelling is the predominant manifestation of the disease and regression after methotrexate withdrawal is observed in a significant proportion of patients.
Methotrexate-associated lymphoproliferative disorders
Hypothalamic hamartomas with gelastic seizures is a rare cerebral malformation with epilepsy syndrome characterized by early-onset gelastic (i.e. ictal laughter) or dacrystic (i.e., ictal crying) seizures due to non-neoplastic developmental malformation - hypothalamic hamartomas. In many patients, seizures progress to other seizure types including focal and generalized seizures, with concomitant cognitive decline and behavioral disorders. Some patients also present a precocious puberty.
Hypothalamic hamartomas with gelastic seizures
HHE syndrome
Hemiconvulsion-hemiplegia-epilepsy syndrome
IHHS
Idiopathic hemiconvulsion-hemiplegia syndrome
Benign myoclonic epilepsy of infancy
Benign myoclonus epilepsy of infancy
Myoclonic epilepsy of infancy
Epilepsy with myoclonic absences
Myoclonic status in non-progressive encephalopathies
Myoclonus epilepsy in non-progressive encephalopathies
Myoclonic epilepsy in non-progressive encephalopathies is a rare epilepsy syndrome characterized by recurrent, long-lasting myoclonic status in infants and young children with a non-progressive encephalopathy, associated with transient and recurring motor, cognitive and/or behavioral disturbances.
Myoclonic epilepsy in non-progressive encephalopathies
Lymphedema-cerebral arteriovenous anomaly syndrome is characterised by the variable association of a cerebrovascular malformation, foot lymphoedema and primary pulmonary hypertension. It has been described in a woman and four of her children.
Lymphedema-cerebral arteriovenous anomaly syndrome
Irons-Bhan syndrome
Irons-Bianchi syndrome
Lymphedema-atrial septal defects-facial changes syndrome is characterised by congenital lymphoedema of the lower limbs, atrial septal defect and a characteristic facies (a round face with a prominent forehead, a flat nasal bridge with a broad nasal tip, epicanthal folds, a thin upper lip and a cleft chin). It has been described in two brothers and a sister. Transmission appears to be autosomal recessive.
Lymphedema-atrial septal defects-facial changes syndrome
use http://www.orpha.net/ORDO/Orphanet_79383 with label: Lymphedema
OBSOLETE: Lymphedema-cleft palate syndrome
Diffuse palmoplantar hyperkeratosis-acrocyanosis syndrome
Diffuse palmoplantar keratoderma-acrocyanosis syndrome is characterised by the association of diffuse palmoplantar keratoderma and acrocyanosis. It has been described in eight members of one family and in two sporadic cases. The mode of inheritance in the familial cases was autosomal dominant.
Diffuse palmoplantar keratoderma-acrocyanosis syndrome
Palmoplantar keratoderma-clinodactyly syndrome
Keratosis palmaris et plantaris-clinodactyly syndrome is characterised by the association of palmoplantar keratosis with clinodactyly of the fifth finger. Less than 20 cases have been described in the literature so far, and the majority of reported patients were of Mexican origin. Transmission is autosomal dominant.
Keratosis palmaris et plantaris-clinodactyly syndrome
Dermatopathia pigmentosa reticularis
Hereditary palmoplantar hyperkeratosis, Gamborg-Nielsen type
PPK, Gamborg-Nielsen type
Hereditary palmoplantar keratoderma, Gamborg-Nielsen type is characterised by the presence of diffuse palmoplantar keratoderma without associated symptoms. The syndrome has been described in multiple families from the northernmost county of Sweden (Norrbotten). The palmoplantar keratoderma found in the Gamborg-Nielsen type disease is milder than that found in Mal de Meleda but more severe than that found in Thost-Unna palmoplantar keratoderma (see these terms). Transmission is autosomal recessive.
Hereditary palmoplantar keratoderma, Gamborg-Nielsen type
ACS1
Acrocephalosyndactyly type 1
Apert syndrome (AS) is a frequent form of acrocephalosyndactyly (see this term), a group of inherited congenital malformation disorders, characterized by craniosynostosis (see this term), midface hypoplasia, and finger and toe anomalies and/or syndactyly.
Apert syndrome
Trisomy 21
Down syndrome is a chromosomal abnormality caused by the presence of a third (partial or total) copy of chromosome 21 and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, or endocrine defects.
Down syndrome
Familial Lenègre disease
Familial Lev disease
Familial Lev-Lenègre disease
Familial PCCD
Familial progressive heart block
Hereditary bundle branch defect
Familial progressive cardiac conduction defect (PCCD) is a hereditary cardiac conduction disorder that may progress to complete atrioventricular (AV) block. The disease is either asymptomatic or manifests as dyspnea, dizziness, syncope, abdominal pain, heart failure or sudden death.
Familial progressive cardiac conduction defect
Rare intellectual disability
Aggressive fibromatosis
Desmoid type fibromatosis
A desmoid tumor (DT) is a benign, locally invasive soft tissue tumor associated with a high recurrence rate but with no metastatic potential.
Desmoid tumor
Adult cardiac tumor
Adult heart tumor
Adult heart tumor refers to neoplasms of the heart that manifest in adults and generally present with a variety of non-specific manifestations (depending on tumor site and infiltration) such as weight loss, exhaustion, hemorrhagic pericardial effusion, heart failure, arrhythmias, and embolisms, or that can also be asymptomatic. In adults 75% of heart tumors are benign, with myxoma being the most common benign tumor (accounting for 50-70% of all primary heart tumors) and rhabdomyosarcoma (see this term) comprising 75% of malignant heart tumors. Other malignant tumors of the heart include fibrosarcoma and leiomyosarcoma (see these terms).
Primary adult heart tumor
Cardiac tumor of child
Heart tumor of child
Cardiac tumours are benign or malignant neoplasms arising primarily in the inner lining, muscle layer, or the surrounding pericardium of the heart. They can be primary or metastatic.
Primary pediatric heart tumor
Keratosis palmoplantaris transgrediens of Siemens
Meleda disease
Transgrediens palmoplantar keratoderma of Siemens
Mal de Meleda (MdM) is a diffuse palmoplantar keratoderma, initially reported in the Island of Meleda, characterized by symmetric palmoplantar hyperkeratosis that progressively extends to the dorsal surfaces of hands and feet (transgrediens). The disease can be associated to hyperhidrosis, lichenoid plaques and perioral erythema.
Mal de Meleda
Endodermal sinus tumor
Yolk sac tumor
Endocrine tumours, also referred to as neuroendocrine tumours (NETs), are defined by a common phenotype which is characterized by the expression of general markers (neuron specific enolase, chromogranin, synaptophysin) and hormone secretion products. These tumours may be localized in any part of the body and are generally discovered in non-specific situations, i.e. not immediately suggestive of NETs (tests for inherited predisposition to tumours or for a clinical syndrome caused by abnormal hormone secretion).
Neuroendocrine neoplasm
Infantile dysmorphic sialidosis
Sialidosis type 2 (ST-2) is a rare lysosomal storage disease, and the severe, early onset form of sialidosis (see this term) characterized by a progressively severe mucopolysaccharidosis-like phenotype (coarse facies, dysostosis multiplex, hepatosplenomegaly), macular cherry-red spots as well as psychomotor and developmental delay. ST-2 displays a broad spectrum of clinical severity with antenatal/congenital, infantile and juvenile presentations.
Sialidosis type 2
Isolated genetic deafness
Deafness is the most frequent form of sensorial deficit. In the vast majority of cases, the deafness is termed nonsyndromic or isolated and the hearing loss is the only clinical anomaly reported. In developed counties, 60-80% of cases of early-onset hearing loss are of genetic origin.
Non-syndromic genetic deafness
. The disease is characterized by acute (multiple white, gray, or yellowish papular or nodular lesions with brown-black-colored opening at the center and peripheral erythema) and chronic inflammation in the feet with itchy/ painful lesions. Bacterial superinfection is common and result in debilitating clinical pathology (deep ulcers, gangrene, lymphangitis and septicemia), leading to impaired physical fitness and mobility. Tungiasis also involves hyperkeratosis, fissuration, nail hypertrophy, and loss of nails.
Tungiasis
Idiopathic bone marrow failure
Idiopathic aplastic anemia
45,X syndrome
45,X/46,XX syndrome
Turner syndrome is a chromosomal disorder associated with the complete or partial absence of an X chromosome.
Turner syndrome
FAH deficiency
Fumarylacetoacetase deficiency
Fumarylacetoacetate hydrolase deficiency
Hepatorenal tyrosinemia
Tyrosinemia type I
Tyrosinemia type 1 (HTI) is an inborn error of tyrosine catabolism caused by defective activity of fumarylacetoacetate hydrolase (FAH) and is characterized by progressive liver disease, renal tubular dysfunction, porphyria-like crises and a dramatic improvement in prognosis following treatment with nitisinone.
Tyrosinemia type 1
Extragonadal teratoma is an extremely rare, benign or malignant germ cell tumor characterized, clinically, by a teratoma presenting in an extragonadal location (e.g. retroperitoneum, mediastinum, craniofacial or sacrococcygeal region, intraosseous, solid organs) and, histologically, by displaying well-differentiated structures, as well as immature elements. Presenting symptoms are variable depending on size and location of tumor.
Extragonadal teratoma
Isochromosome 12p mosaicism
Isochromosome 12p syndrome
Pallister-Killian syndrome
Pallister-Killian syndrome (PKS) is a rare multiple congenital anomaly/intellectual deficit syndrome caused by mosaic tissue-limited tetrasomy for chromosome 12p.
Tetrasomy 12p
Retinitis pigmentosa-deafness syndrome
USH
Usher syndrome (US) is characterized by the association of sensorineural deafness (usually congenital) with retinitis pigmentosa and progressive vision loss.
Usher syndrome
AR-NSID
NS-ARID
Autosomal recessive non-syndromic intellectual disability
Hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency is characterised by psychomotor delay and severe myopathy (hypotonia, absent tendon reflexes and delayed myelination) from birth, associated with hypermethioninaemia and elevated serum creatine kinase levels.
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
Recurrent acute necrotizing encephalopathy
Familial acute necrotizing encephalopathy or ADANE is a potentially fatal neurological disease characterised by neuropathological lesions principally involving the brainstem, thalamus and putamen.
Familial acute necrotizing encephalopathy
This syndrome is characterised by total or partial anosmia at birth. So far, 15 patients have been described. The anosmia is caused by a defect in the development of the olfactory bulbs or by replacement of the olfactory epithelium by respiratory epithelium. The mode of transmission appears to be autosomal dominant with incomplete penetrance. Isolated congenital anosmia is found in some parents of individuals with Kallman syndrome (see this term).
Isolated congenital anosmia
Congenital ichthyosis type 4
IPS
Ichthyosis prematurity syndrome is a rare, syndromic congenital ichthyosis characterized by premature birth (at gestational weeks 30-32, in general) in addition to thick, caseous and desquamating epidermis, neonatal respiratory asphyxia, and persistent eosinophilia. After the perinatal period, a spontaneous improvement in the health of affected patients is observed and skin features (vernix caseosa-like scale) evolve into a mild presentation of flat follicular hyperkeratosis with atopy.
Ichthyosis-prematurity syndrome
Autosomal recessive posterior column ataxia and retinitis pigmentosa
PCARP
Posterior column ataxia - retinitis pigmentosa is characterized by the association of progressive sensory ataxia and retinitis pigmentosa.
Posterior column ataxia-retinitis pigmentosa syndrome
Blue colour blindness
Congenital tritanopia
Tritan colour blindness
Tritanopia is an extremely rare form of colour blindness characterised by a selective deficiency of blue vision.
Tritanopia
Terminal osseous dysplasia-pigmentary defects syndrome is characterised by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.
Terminal osseous dysplasia-pigmentary defects syndrome
Anterior segment dysgenesis
Anterior segment developmental anomaly
SLK
Theodore's superior limbic keratoconjunctivitis
Theodore's syndrome
Superior limbic keratoconjunctivitis
Myopathy due to calsequestrin and SERCA1 protein overload is characterised by mild myopathy or elevated levels of creatine kinase in the blood without associated symptoms.
Myopathy due to calsequestrin and SERCA1 protein overload
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_91387 with label: Familial thoracic aortic aneurysm and aortic dissection
Aortic dilatation-joint hypermobility-arterial tortuosity syndrome
4H syndrome
Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome is characterised by the association of demyelinating leukodystrophy with progressive cerebellar ataxia, hypogonadotropic hypogonadism and hypodontia.
Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome
HIBCH deficiency
Methacrylic aciduria
Valine metabolic defect
gene, encoding 3-hydroxyisobutyryl-CoA hydrolase. The mode of transmission has not yet been established.
Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency
Channelopathy-associated CIP
Channelopathy-associated congenital insensitivity to pain
Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome is characterised by precocious obesity, congenital hypothyroidism, neonatal colitis, cardiac hypertrophy, craniosynostosis and developmental delay. It has been described in two brothers, one of whom died within the first month of life. The parents of the two children were nonconsanguineous and in good health, however, the pregnancies were complicated by a maternal HELLP syndrome (Haemolysis, Elevated Liver enzymes and Low Platelets). The mode of inheritance has not yet been clearly established.
Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome
Autosomal recessive cerebellar ataxia type 1
gene mutations.
Autosomal recessive ataxia, Beauce type
Autosomal dominant progressive nephropathy with hypertension
Early-onset hypertension with exacerbation in pregnancy
Pseudohyperaldosteronism type 2
Hypertension due to gain-of-function mutations in the mineralocorticoid receptor is a rare genetic hypertension characterized by a familial severe hypertension with an onset before age 20 years, associated with suppressed plasma renin and low aldosterone levels in the presence of low or normal levels of the mineralocorticoid aldosterone, that is highly resistant to antihypertensive medication. During pregnancy, there is a marked exacerbation of hypertension, accompanied by low serum potassium levels and undetectable aldosterone levels, but without signs of preeclampsia, requiring early delivery.
Hypertension due to gain-of-function mutations in the mineralocorticoid receptor
Amelogenesis imperfecta (AI) represents a group of developmental conditions affecting the structure and clinical appearance of the enamel of all or nearly all the teeth in a more or less equal manner, and which may be associated with morphologic or biochemical changes elsewhere in the body.
Amelogenesis imperfecta
Hepatocellular carcinoma is a primary hepatic cancer derived from well-differentiated hepatocytes. It is more frequent in adults than in childhood. Symptoms are hepatic mass, abdominal pain and, in advanced stages, jaundice, cachexia and liver failure.
Hepatocellular carcinoma
VACTERL association
VATER association
VACTERL/VATER is an association of congenital malformations typically characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities.
VACTERL/VATER association
Cleft lip/palate with mucous cysts of lower lip
Lip-pit syndrome
VWS
Van der Woude syndrome (VWS) is a rare congenital genetic dysmorphic syndrome characterized by paramedian lower-lip fistulae, cleft lip with or without cleft palate, or isolated cleft palate.
Van der Woude syndrome
Cutaneous hypersensitivity vasculitis
Cutaneous leukocytoclastic vasculitis
Cutaneous small vessel vasculitis
Hypersensitivity angiitis
Cutaneous leukocytoclastic angiitis is a small-vessel vasculitis presenting with palpable purpura and urticarial lesions which predate the purpuric lesions most frequently observed on the legs. Systemic symptoms including fever, cough, hemoptysis, sinusitis, arthralgia, arthritis, myalgia, abdominal pain, diarrhea, hematochezia, paresthesia, weakness, and hematuria may be observed. Skin biopsy reveals exudates rich in neutrophils, endothelial damage, fibrin deposition, and leukocytoclasis in postcapillary venules of small vessels. Cutaneous leukocytoclastic angiitis can be idiopathic (in up to 50% of cases) or secondary to infections, medications (such as antituberculosis medication), collagen vascular diseases, or neoplasms.
Cutaneous leukocytoclastic angiitis
X-linked Alport syndrome
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Tuberous sclerosis/polycystic kidney disease contiguous gene syndrome
Polycystic kidney disease with tuberous sclerosis (PKD-TSC) is characterised by early-onset and severe polycystic kidney disease with various manifestations of tuberous sclerosis (multiple angiomyolipomas, lymphangioleiomyomatosis and periventricular calcifications of the central nervous system).
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
PHA2A
Pseudohypoaldosteronism type 2A
PHA2B
Pseudohypoaldosteronism type 2B
PHA2C
Pseudohypoaldosteronism type 2C
ADTKD-MUC1
MCKD1
MUC1-related autosomal dominant medullary cystic kidney disease
MUCI-related ADTKD
Medullary cystic kidney disease type 1
MUC1-related autosomal dominant tubulointerstitial kidney disease
ADTKD-UMOD
Autosomal dominant medullary cystic kidney disease type 2
MCKD2
UMOD-related ADTKD
UMOD-related autosomal dominant tubulointerstitial kidney disease
Rare congenital non-syndromic heart malformation
Esophageal malformation
Sinusoidal obstruction syndrome
Hepatic veno-occlusive disease (hepatic VOD) is a condition resulting from toxic injury to the hepatic sinusoidal capillaries that leads to obstruction of the small hepatic veins.
Hepatic veno-occlusive disease
Rare dementia
Criswick-Schepens syndrome
FEVR
Familial exudative vitreoretinopathy (FEVR) is a rare hereditary vitreoretinal disorder characterized by abnormal or incomplete vascularization of the peripheral retina leading to variable clinical manifestations ranging from no effects to minor anomalies, or even retinal detachment with blindness.
Familial exudative vitreoretinopathy
Familial cerebelloretinal angiomatosis
Lindau disease
VHL
Von Hippel-Lindau syndrome
Von Hippel-Lindau disease (VHL) is a familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma.
Von Hippel-Lindau disease
Del(11)(p13)
Deletion 11p13
Monosomy 11p13
Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome
WAGR syndrome (Wilms tumor - aniridia - genitourinary anomalies - intellectual disability mental retardation) is a rare genetic disorder characterized by an unusual complex of congenital developmental abnormalities with intellectual disability, and an increased risk of developing Wilms tumor.
WAGR syndrome
WS1
Waardenburg syndrome type I
Waardenburg syndrome type 1 (WS1) is a subtype of Waardenburg syndrome (WS; see this term), disorder characterized by congenital deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum.
Waardenburg syndrome type 1
WS2
Waardenburg syndrome type II
Waardenburg syndrome type 2 (WS2) is an autosomal dominant subtype of Waardenburg syndrome (WS; see this term), characterized by varying degrees of deafness and pigmentation anomalies of eyes, hair and skin, but without dystopia canthorum.
Waardenburg syndrome type 2
Klein-Waardenburg syndrome
WS3
Waardenburg syndrome type III
Waardenburg syndrome with limb anomalies
Waardenburg syndrome type 3 (WS3) is a very rare subtype of Waardenburg syndrome (WS; see this term) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest, resulting in pigmentation anomalies of eyes, hair, and skin.
Waardenburg syndrome type 3
Shah-Waardenburg syndrome
Waardenburg syndrome type 4
Waardenburg-Hirschsprung syndrome
Waardenburg-Shah syndrome (WSS), also known as Waardenburg syndrome type 4 (WS4) is characterized by the association of Waardenburg syndrome (sensorineural hearing loss and pigmentary abnormalities) and Hirschsprung disease (aganglionic megacolon).
Waardenburg-Shah syndrome
Dominant hyaloideoretinal dystrophy of Wagner
VCAN-related vitreoretinopathy
Vitreoretinal degeneration, Wagner type
Wagner syndrome
Wagner disease is a rare hereditary vitreoretinopathy characterized by an anomaleous vitreous associated with myopia, cataract, chorioretinal atrophy, and peripheral tractional or rhegmatogenous retinal detachment.
Wagner disease
Rare skin disease
Syndromic lymphedema
Palmoplantar keratoderma with tonotubular keratin
EBS, autosomal recessive K14
EBS-AR KRT14
KRT14-related autosomal recessive EBS
KRT14-related autosomal recessive epidermolysis bullosa simplex
Epidermolysis bullosa simplex, autosomal recessive K14 (EBS-AR KRT14) is a basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized or, less frequently, localized acral blistering.
Epidermolysis bullosa simplex, autosomal recessive K14
EBSS
Epidermolysis bullosa simplex superficialis (EBSS) is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized or acral superficial erosions in the absence of blisters.
Epidermolysis bullosa simplex superficialis
JEN-nH
Junctional epidermolysis bullosa, non-Herlitz (JEB-nH) is a subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by the presence of skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia.
Junctional epidermolysis bullosa, non-Herlitz type
Centripetal dystrophic epidermolysis bullosa
Centripetal recessive dystrophic epidermolysis bullosa
RDEB, centripetalis
RDEB-Ce
Centripetalis recessive dystrophic epidermolysis bullosa (RDEB-Ce) is an extremely rare subtype of dystrophic epidermolysis bullosa (DEB, see this term), characterized by blistering which begins acrally and then progressively spreads toward the trunk.
Centripetalis recessive dystrophic epidermolysis bullosa
Autosomal recessive dystrophic epidermolysis bullosa generalisata mitis
Autosomal recessive dystrophic epidermolysis bullosa, generalized other
Generalized mitis RDEB
RDEB generalisata mitis
RDEB, generalized intermediate
RDEB, non-Hallopeau-Siemens type
RDEB-O
RDEB-generalized other
Recessive dystrophic epidermolysis bullosa, non-Hallopeau-Siemens type
Recessive dystrophic epidermolysis bullosa-generalized other
Recessive dystrophic epidermolysis bullosa (RDEB)-generalized other, also known as RDEB non-Hallopeau-Siemens type, is a subtype of DEB (see this term) characterized by generalized cutaneous and mucosal blistering that is not associated with severe deformities.
Recessive dystrophic epidermolysis bullosa, generalized intermediate
DEB, pruriginosa
DEB-Pr
Pruriginous dystrophic epidermolysis bullosa
Dystrophic epidermolysis bullosa pruriginosa is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by generalized or localized skin lesions associated with severe, if not intractable, pruritus.
Dystrophic epidermolysis bullosa pruriginosa
Microlissencephaly type A
Lissencephaly syndrome, Norman-Roberts type is characterised by the association of lissencephaly type I with craniofacial anomalies (severe microcephaly, a low sloping forehead, a broad and prominent nasal bridge and widely set eyes) and postnatal growth retardation.
Lissencephaly syndrome, Norman-Roberts type
use http://www.orpha.net/ORDO/Orphanet_363999 with label: Non-immune hydrops fetalis
HARD syndrome
Hydrocephalus-agyria-retinal dysplasia syndrome
WWS
Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities.
Walker-Warburg syndrome
X-linked hypophosphatemic rickets
X-linked hypophosphatemia (XLH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia, and diminished growth.
X-linked hypophosphatemia
ADHR
Autosomal dominant hypophosphatemia
Autosomal dominant hypophosphatemic rickets (ADHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia.
Autosomal dominant hypophosphatemic rickets
Bartter syndrome type 4
Bartter syndrome type IV
Infantile Bartter syndrome with deafness, a phenotypic variant of Bartter syndrome (see this term) is characterized by maternal polyhydramnios, premature delivery, polyuria and sensorineural deafness and is associated with hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure, and vascular resistance to angiotensin II.
Infantile Bartter syndrome with sensorineural deafness
48,XXXX syndrome
Quadruple X
Tetra X
Tetrasomy X is a sex chromosome anomaly caused by the presence of two extra X chromosomes in females (48,XXXX instead of 46,XX).
Tetrasomy X
Arginase deficiency
Hyperargininemia
Arginase deficiency is a rare autosomal recessive amino acid metabolism disorder characterized clinically by variable degrees of hyperammonemia, developing from about 3 years of age, and leading to progressive loss of developmental milestones and spasticity in the absence of treatment.
Argininemia
GPA
Granulomatosis with polyangiitis is a small-vessel necrotizing vasculitis characterised by the association of inflammation of the vessel wall and peri- and extravascular granulomatosis.
Granulomatosis with polyangiitis
Erythema elevatum diutinum (EED) is a distinctive form of chronic cutaneous vasculitis, belonging to the group of the neutrophilic dermatoses.
Erythema elevatum diutinum
Bornholm eye disease
X-linked cone dysfunction syndrome with myopia is characterised by moderate to high myopia associated with astigmatism and deuteranopia. Less than 10 families have been described so far. Transmission is X-linked recessive and the locus has been mapped to Xq28.
X-linked cone dysfunction syndrome with myopia
UCTD
Undifferentiated connective tissue syndrome
Inflammatory pseudotumor of the liver
Inflammatory pseudotumor (IPT) of the liver is a rare benign tumor-like lesion.
IgG4-related hepatopathy
Amyotrophic lateral sclerosis-parkinsonism-dementia of Guam syndrome
Guam disease
Lytico-Bodig disease
PDALS
Parkinsonism-dementia-ALS complex
Amyotrophic lateral sclerosis-parkinsonism-dementia complex
Radiation myelitis is a rare neurological disease characterized by the development of paresthesias, as well as, in severe cases, progressive paresis and paralysis following irradiation of tumors in which the spinal cord is included within the radiation field. Symptoms may develop months or years after radiation therapy was administered.
Radiation myelitis
Primary immunodeficiency syndrome with short stature
Primary immunodeficiency syndrome due to p14 deficiency
LAMM syndrome
Microdontia-type I microtia-deafness syndrome
Deafness with labyrinthine aplasia, microtia, and microdontia (LAMM) is a genetic transmission deafness syndrome.
Deafness with labyrinthine aplasia, microtia, and microdontia
Non-syndromic syndactyly
Primary erythermalgia is characterized by intermittent attacks of red, warm, painful burning extremities. It spontaneously arises during early childhood and adolescence in the absence of any detectable underlying disorder.
Primary erythermalgia
Haemolytic anaemia due to glutathione reductase (GSR) deficiency is characterised by nearly complete absence of GSR activity in erythrocytes.
Hemolytic anemia due to glutathione reductase deficiency
, the gene that encodes red blood cell-specific hexokinase-R.
Non-spherocytic hemolytic anemia due to hexokinase deficiency
Warm AIHA
wAHA
wAIHA
Warm autoimmune hemolytic anemia is the most common form of autoimmune hemolytic anemia (see this term) defined by the presence of warm autoantibodies against red blood cells (autoantibodies that are active at temperatures between 37-40°C).
Autoimmune hemolytic anemia, warm type
Donath-Landsteiner hemolytic anemia
Donath-Landsteiner syndrome
PCH
Paroxysmal cold hemoglobinuria (PCH) is a very rare subtype of autoimmune hemolytic anemia (AIHA, see this term), caused by the presence of cold-reacting autoantibodies in the blood and characterized by the sudden presence of hemoglobinuria, typically after exposure to cold temperatures.
Paroxysmal cold hemoglobinuria
Mixed AIHA
Mixed autoimmune hemolytic anemia is a type of autoimmune hemolytic anemia (AIHA; see this term) defined by the presence of both warm and cold autoantibodies, which have a deleterious effect on red blood cells at either body temperature or at lower temperatures.
Mixed-type autoimmune hemolytic anemia
Drug-induced AIHA
Drug-induced autoimmune hemolytic anemia is a type of autoimmune hemolytic anemia (AIHA; see this term) that occurs as a reaction to therapeutic drugs, and can be due to various mechanisms.
Drug-induced autoimmune hemolytic anemia
D+HUS
Hemolytic-uremic syndrome with diarrhea
Shiga-like toxin-associated HUS
Sxt-HUS
Typical HUS
Typical hemolytic-uremic syndrome
Hemoglobin D disease(HbD) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin D, with no or mild clinical manifestations (splenomegaly, very mild anemia).
Hemoglobin D disease
Stress erythrocytosis
Stress polycythemia
Gaisbock syndrome is characterised by secondary polycythemia.
Gaisböck syndrome
Congenital erythrocytosis due to erythropoietin receptor mutation
Congenital polycythemia due to erythropoietin receptor mutation
Familial erythrocytosis
PFCP
Primary congenital erythrocytosis
Primary familial and congenital polycythemia
Primary familial polycythemia is an inherited hematological disorder resulting from mutations in the erythropoietin (EPO) receptor and is characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production in the presence of low EPO levels.
Primary familial polycythemia
potassium levels in samples stored below 37°C. FP is not associated with additional hematological abnormalities, although affected individuals may show some mild abnormalities like macrocytosis.
Familial pseudohyperkalemia
Congenital folate malabsorption
Hereditary folate malabsorption (HFM) is an inherited disorder of folate transport characterized by a systemic and central nervous system (CNS) folate deficiency manifesting as megaloblastic anemia, failure to thrive, diarrhea and/or oral mucositis, immunologic dysfunction and neurological disorders.
Hereditary folate malabsorption
ROP
Retrolental fibroplasia
Retinopathy of prematurity (ROP) is a rare retinal vasoproliferative disorder affecting preterm infants characterized initially by a delay in physiologic retinal vascular development, and subsequently by aberrant angiogenesis in the form of intravitreal neovascularization.
Retinopathy of prematurity
use http://www.orpha.net/ORDO/Orphanet_306644 with label: Complication after organ transplantation
OBSOLETE: Rejection after corneal transplantation
Diffuse alveolar hemorrhage
Non-infectious choroiditis
Non-infectious posterior uveitis
Acute hepatic failure
Fulminant hepatic failure
Acute liver failure
Acquired aneurysmal subarachnoid hemorrhage is a serious, life threatening rare neurologic disease characterized by a sudden rupture of an intracranial aneurysm into the subarachnoid space. It usually presents with a sudden, severe, excruciating headache accompanied by nausea, vomiting and syncope. Other features may include focal neurological signs, third and sixth nerve palsies, seizures and cardiac failure. Early complications include rebleeding, hydrocephalus, and seizures.
Acquired aneurysmal subarachnoid hemorrhage
Cocaine intoxication
Systemic monochloroacetate poisoning is a rare, life-threatening intoxication with monochloroacetic acid (mainly through the skin, but also by inhalation or ingestion). It is characterized by vomiting, diarrhea and central nervous system (CNS)-excitability (disorientation, delirium, convulsions) as early signs of systemic poisoning, followed by CNS-depression, coma and cerebral edema. Additional signs include heart involvement (severe myocardial depression, shock, arrhythmias, nonspecific myocardial damage), severe metabolic acidosis, hypokalemia, hypocalcemia and progressive renal failure leading to anuria. Myoglobinemia and leukocytosis may occur. Manifestations may be delayed for 1-4 hours.
Systemic monochloroacetate poisoning
Other acquired skin disease
Eosinophilic cellulitis
Wells syndrome is characterised by the presence of recurrent cellulitis-like eruptions with eosinophilia.
Wells syndrome
Hereditary motor and sensory neuropathy with deafness, intellectual disability and absent sensory large myelinated fibers
Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome is a rare demyelinating hereditary motor and sensory neuropathy characterized by early-onset, slowly progressive, distal muscular weakness and atrophy with no sensory impairment, congenital sensorineural deafness and mild intellectual disability (with absence of normal speech development). The absence of large myelinated fibers on sural nerve biopsy is equally characteristic of the disease.
Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome
CMTDI
Autosomal dominant intermediate Charcot-Marie-Tooth disease
HMSNP
Hereditary motor and sensory neuropathy, proximal type
Hereditary motor and sensory neuropathy, Okinawa type is a rare, genetic, axonal hereditary motor and sensory neuropathy characterized by the adult-onset of slowly progressive, symmetric, proximal dominant muscle weakness and atrophy, painful muscle cramps, fasciculations and distal sensory impairment, mostly (but not exclusively) in individuals (and their descendents) from the Okinawa region in Japan. Absent deep tendon reflexes, elevated creatine kinase levels and autosomal dominant inheritance are also characteristic.
Hereditary motor and sensory neuropathy, Okinawa type
AR-CMT2, Ouvrier type
Autosomal recessive Charcot-Marie-Tooth disease, Ouvrier type
SEOAN due to MFN2 deficiency
10 years) progressive distal muscle weakness and wasting of the lower limbs and later, to a lesser extent the upper limbs resulting in foot and wrist drop, areflexia, skeletal deformities (kyphoscoliosis, pes cavus with flattening, joint contractures), mild sensory impairment with vibration sense reduced to a greater extent than pain, optic atrophy and hearing loss. Wheelchair dependence by adolescence is usual and respiratory impairment with diaphragmatic paralysis may develop.
Severe early-onset axonal neuropathy due to MFN2 deficiency
AR-CMT2 with acrodystrophy
Autosomal recessive Charcot-Marie-Tooth type 2 with acrodystrophy
Autosomal recessive axonal Charcot-Marie-Tooth disease with acrodystrophy
HMSN with acrodystrophy
Hereditary motor and sensory neuropathy with acrodystrophy is a rare axonal hereditary motor and sensory neuropathy characterized by progressive axonal neuropathy with limb weakness and severe distal sensory loss in all limbs and acrodystrophic changes leading to painless non-healing ulcers, osteomyelitis, contractures and mutilating lesions with loss of terminal phalanges. One family with three affected siblings is described and there have been no further descriptions in the literature since 1999.
Hereditary motor and sensory neuropathy with acrodystrophy
CMT6
Charcot-Marie-Tooth disease type 6
Peripheral neuropathy and optic atrophy
Hereditary motor and sensory neuropathy type 6
Mandibuloacral dysplasia with type A lipodystrophy
Mandibuloacral dysplasia with type B lipodystrophy
Lipodystrophia centrifugalis abdominalis infantilis
Centrifugal lipodystrophy is a rare, acquired, localized lipodistrophy characterized by single or, occasionally, multiple, centrifugally progressive, asymptomatic to sometimes mildly tender, hypopigmented, lipoatrophic skin depressions with weakly erymatheous inflammatory borders, typically associated with regional ipsilateral lymph nodes swelling. Lesions typically occur on lower trunk (in particular groin and abdomen region), followed by upper trunk (axilla and neighboring regions) and, rarely, neck and head. It is usually not associated with systemic disease and is typically self-resolving.
Centrifugal lipodystrophy
Lipoatrophy caused by injected drug
Drug-induced localized lipodystrophy is a rare, acquired, localized lipodystrophy characterized by the appearance of asymptomatic, well-demarcated, variably sized, depressed, lipoatrophic lesions secondary to subcutaneous, intradermic or intramuscular drug injection, including corticosteroids, insulin, human growth hormone and antibiotics. Skin coloration may vary from white or hypopigmented to reddish, pinkish or violaceous. Epidermal atrophy may be also present.
Drug-induced localized lipodystrophy
Idiopathic localized lipodystrophy is a rare, acquired, localized lipodystrophy characterized by asymptomatic, well-demarcated, depressed, lipoatrophic lesions of variable size, with normal overlying skin without antecedent inflammation or a known identifiable cause (autoimmune disease, drug injection, injury, etc).
Idiopathic localized lipodystrophy
Panniculitis-induced localized lipodystrophy is a rare, acquired, localized lipodystrophy disorder characterized by eruption of tender, occasionally painful, erythematous nodules and plaques which enlarge radially and resolve into lipoatrophic lesions, often located in the upper and lower limbs. Histologically, lesions are characterized by lipophagic, lobular panniculitis and absence of vasculitis.
Panniculitis-induced localized lipodystrophy
Lipoatrophia semicircularis
Semicircular lipoatrophy
Pressure-induced localized lipoatrophy is a rare, acquired, localized lipodystrophy characterized by band-like, horizontal, asymptomatic, lipoatrophic depressions with clinically normal overlying skin usually involving the anterolateral aspect of the thighs. An identifiable history of the repeated mechanical microtrauma due to occupational or postural habits is present.
Pressure-induced localized lipoatrophy
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_90186 with label: Meige disease
Non-hereditary late-onset primary lymphedema
Hereditary lymphedema type II
Late-onset primary lymphedema
Meige lymphedema
Meige disease is a frequent form of late-onset, primary lymphedema characterized by lower limb lymphedema typically developing during puberty.
Meige disease
Adult progeria
Werner syndrome (WS) is a rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders.
Werner syndrome
Chilblain lupus
Discoid lupus erythematosus
Hypertrophic or verrucous lupus erythematosus is a rare type of chronic cutaneous lupus erythematosus characterized by the appearance of lesions on sun-exposed areas (frequently the extensor surfaces of forearms, face, upper trunk) which vary from squamous violet, painful papules and blackish hyperkeratotic ulcers to depigmented atrophic plaques on the back, hyperkeratotic papules on upper extremities, and disseminated keratoacanthoma-like papulonodular verrucous lesions. Classic discoid lesions and squamous cell carcinoma may be associated. Histopathology reveals follicular plugging, liquefactive basal layer degeneration and a perivascular lymphocytic infiltrate.
Hypertrophic or verrucous lupus erythematosus
Intermittent cutaneous lupus
Lupus erythematosus tumidus
Lupus erythematosus profundus
Lupus erythematosus panniculitis
Localized fibrosing scleroderma
Localized scleroderma is the skin localized form of scleroderma (see this term) characterized by fibrosis of the skin causing cutaneous plaques or strips.
Localized scleroderma
Calcinosis-Raynaud phenomenon-esophageal involvement-sclerodactyly-telangiectasia syndrome
CREST syndrome is a subtype of limited cutaneous systemic sclerosis (lcSSc; see this term) whose name is an acronym for the cardinal clinical features of the syndrome: calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly and telangiectasia.
CREST syndrome
Systemic scleroderma
Systemic sclerosis (SSc) is a generalized disorder of small arteries, microvessels and connective tissue, characterized by fibrosis and vascular obliteration in the skin and organs, particularly the lungs, heart, and digestive tract. There are two main subsets of SSc: diffuse cutaneous SSc (dcSSc) and limited cutaneous SSc (lcSSc) (see these terms). A third subset of SSc has also been observed, called limited Systemic Sclerosis (lSSc) or systemic sclerosis sine scleroderma (see these terms).
Systemic sclerosis
Hereditary von Willebrand disease
von Willebrand disease (VWD) is a hereditary bleeding disorder caused by a genetic anomaly leading to quantitative, structural or functional abnormalities of the Willebrand factor (von Willebrand factor; VWF). Two major groups of VWF deficiency have been defined: quantitative and partial (type 1) or total (type 3), and qualitative (type 2) with several subtypes (2A, 2B, 2M, 2N; see these terms).
Von Willebrand disease
This syndrome is characterised by the association of acanthosis nigricans, insulin resistance, severe muscle cramps and acral hypertrophy.
Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome
Parkes Weber syndrome
Klippel-Trénaunay syndrome
EDS I
Ehlers-Danlos syndrome type 1
EDS II
Ehlers-Danlos syndrome type 2
Cockayne syndrome type I
Cockayne syndrome type 1
Cockayne syndrome type II
Cockayne syndrome type 2
Cockayne syndrome type III
Cockayne syndrome type 3
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_3253 with label: Zlotogora-Ogur syndrome
Blau syndrome (BS) is a rare systemic inflammatory disease characterized by early onset granulomatous arthritis, uveitis and skin rash. BS now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. The proposed term pediatric granulomatous arthritis is currently questioned since it fails to represent the systemic nature of the disease.
Blau syndrome
XPV
Xeroderma pigmentosum variant is a milder subtype of xeroderma pigmentosum (XP; see this term), a rare genetic photodermatosis characterized by severe sun sensitivity and an increased risk of skin cancer.
Xeroderma pigmentosum variant
use http://www.orpha.net/ORDO/Orphanet_93430 with label: Multiple metaphyseal dysplasia
OBSOLETE: Unclassified metaphyseal chondrodysplasia
ADCL
Autosomal dominant cutis laxa (ADCL) is a connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated in some cases with internal organ involvement.
Autosomal dominant cutis laxa
ARCL1
Autosomal recessive cutis laxa with severe systemic involvement
Autosomal recessive cutis laxa, pulmonary emphysema type
Autosomal recessive cutis laxa, type 1 (ARCL1) is a generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli).
Autosomal recessive cutis laxa type 1
ARCL2
Cutis laxa with joint laxity and developmental delay
Autosomal recessive cutis laxa, type 2 (ARCL2) appears to cover a spectrum of connective tissue disorders characterized by the association of wrinkled, redundant and sagging inelastic skin with growth and developmental delay, and skeletal anomalies. The spectrum ranges from patients with classic ARCL2 (ARCL, Debré type) to patients with a milder form of the disease, wrinkled skin syndrome (WSS; see this term).
Autosomal recessive cutis laxa type 2
Brittle cornea syndrome is a form of Ehlers-Danlos syndrome characterized by a severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma, and progression to blindness. Extraocular manifestations comprise deafness, developmental hip dysplasia, and joint hypermobility.
Brittle cornea syndrome
Waldmann disease
Primary intestinal lymphangiectasia (PIL) is a rare intestinal disease characterized by dilated intestinal lacteals which cause lymph leakage into the small bowel lumen. Clinical manifestations include edema related to hypoalbuminemia (protein-losing enteropathy), asthenia, diarrhea, lymphedema and failure to thrive in children.
Primary intestinal lymphangiectasia
Secondary intestinal lymphangiectasia is an acquired from of intestinal lymphangiectasia (see this term) manifesting as a protein-losing enteropathy due to another disorder such as Crohns disease, congestive heart failure, sarcoidosis, Turner syndrome (see these terms) and often in patients who have undergone a Fontan operation. It is characterized by malabsorption, diarrhea, edema due hypoproteinemia, steatorrhea and serosal effusions.
Secondary intestinal lymphangiectasia
Hereditary hypotrichosis simplex of the scalp
Hypotrichosis simplex of the scalp (HSS) is characterized by diffuse progressive hair loss that is confined to the scalp.
Hypotrichosis simplex of the scalp
Telangiectasia macularis eruptiva perstans
Anonychia-onychodystrophy syndrome
Atypical tuberous myxedema of Jadassohn-Dosseker
Nodular lichen myxedematosus is a rare form of localized lichen myxedematosus (see this term) characterized by the development of skin-coloured mucinous nodules on the limbs and trunk, with mild or absent papular eruption.
Nodular lichen myxedematosus
Discrete papular lichen myxedematosus is a rare chronic, slowly progressive form of localized lichen myxedematosus (see this term) characterized by the development of a few to multiple small symmetrical skin-coloured mucinous papules on the limbs and trunk.
Discrete papular lichen myxedematosus
Cutaneous mucinosis of infancy
Papular mucinosis of infancy is a rare pediatric non progressive form of localized lichen myxedematosus (see this term) characterized by the development of firm opalescent mucinous papules on the upper arms and the trunk.
Papular mucinosis of infancy
Acral persistent papular mucinosis is a rare chronic form of localized lichen myxedematosus (see this term) characterized by the development of multiple symmetrical skin-colored mucinous papules exclusively on the extensor surface of the hands and distal forearms.
Acral persistent papular mucinosis
Self-healing papular mucinosis is a rare form of localized lichen myxedematosus (see this term) occurring primarily in children and characterized by the development of mucinous papules on various parts of the body (face, neck, trunk, and limbs) that resolve spontaneously within some weeks to months. Systemic symptoms can be observed such as fever, arthralgias and weakness.
Self-healing papular mucinosis
Localized lichen myxedematosus (LM) with mixed features of different subtypes is a form of atypical lichen myxedematosus (see this term), characterized by mixed features of the 5 subtypes of localized LM which are: discrete papular LM, acral persistent papular mucinosis, self-healing papular mucinosis, papular mucinosis of infancy, and nodular LM (see these terms).
Localized lichen myxedematosus with mixed features of different subtypes
Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms is a form of atypical lichen myxedematosus (see this term), characterized by the appearance of several 2-4 mm erythematous waxy papules confined to a few sites that may be associated with either an immunoglobulin A (IgA) nephropathy in patients with acral persistent papular mucinosis; discrete papular lichen myxedematosus (see these terms); a scleromyxedema-like involvement, with dysphagia, hoarseness, pulmonary involvement, and carpal tunnel syndrome; myositis without skin sclerosis; or paraproteinemia.
Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms
Deletion 7q11.23
Monosomy 7q11.23
Williams syndrome is a rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity)
Williams syndrome
Scleromyxedema without monoclonal gammopathy is a form of atypical lichen myxedematosus (see this term), characterized by a generalized sclerodermoid infiltration of skin studded with multiple, firm papules of 1-3 mm in diameter involving face (leonine appearance), trunk, and limbs, without monoclonal gammopathy. The involvement of the face can be missing and pruritus may be prominent.
Scleromyxedema without monoclonal gammopathy
Hepatolenticular degeneration
Wilson disease is a very rare inherited multisystemic disease presenting non-specific neurological, hepatic, psychiatric or osseo-muscular manifestations due to excessive copper deposition in the body.
Eczema-thrombocytopenia-immunodeficiency syndrome
WAS
Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disease characterized by microthrombocytopenia, eczema, infections and an increased risk for autoimmune manifestations and malignancies.
X-linked isolated neurosensory deafness type DFN
X-linked isolated neurosensory hearing loss type DFN
X-linked isolated sensorineural deafness type DFN
X-linked isolated sensorineural hearing loss type DFN
X-linked non-syndromic neurosensory deafness type DFN
X-linked non-syndromic neurosensory hearing loss type DFN
X-linked non-syndromic sensorineural hearing loss type DFN
X-linked non-syndromic sensorineural deafness type DFN
Autosomal dominant isolated neurosensory deafness type DFNA
Autosomal dominant isolated neurosensory hearing loss type DFNA
Autosomal dominant isolated sensorineural deafness type DFNA
Autosomal dominant isolated sensorineural hearing loss type DFNA
Autosomal dominant non-syndromic neurosensory deafness type DFNA
Autosomal dominant non-syndromic neurosensory hearing loss type DFNA
Autosomal dominant non-syndromic sensorineural hearing loss type DFNA
Autosomal dominant non-syndromic sensorineural deafness type DFNA
Autosomal recessive isolated neurosensory deafness type DFNB
Autosomal recessive isolated sensorineural deafness type DFNB
Autosomal recessive non-syndromic neurosensory deafness type DFNB
Autosomal recessive non-syndromic sensorineural deafness type DFNB
Isolated mitochondrial neurosensory deafness
Isolated mitochondrial sensorineural deafness
Mitochondrial non-syndromic neurosensory deafness
Mitochondrial non-syndromic sensorineural deafness
Syndromic genetic deafness
This syndrome is characterized by the association of congenital mixed hearing loss with perilymphatic gusher (Gusher syndrome or DFN3; see this term), hypogonadism and abnormal behavior.
Deafness-hypogonadism syndrome
Long QT interval-deafness syndrome
Jervell and Lange-Nielsen syndrome (JLNS) is an autosomal recessive variant of familial long QT syndrome (see this term) characterized by congenital profound bilateral sensorineural hearing loss, a long QT interval on electrocardiogram and ventricular tachyarrhythmias.
Jervell and Lange-Nielsen syndrome
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_2750 with label: Orofaciodigital syndrome type 1
OPD I syndrome
OPD syndrome 1
Taybi syndrome
Otopalatodigital syndrome type 1 (OPD1) is the mildest form of otopalatodigital syndrome spectrum disorder, and is characterized by a generalized skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies.
Otopalatodigital syndrome type 1
OPD II syndrome
OPD syndrome 2
Otopalatodigital syndrome type 2 (OPD2) is a severe form of otopalatodigital syndrome spectrum disorder, and is characterized by dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine) and poor survival.
Otopalatodigital syndrome type 2
Stickler syndrome type 1
Stickler syndrome type 2
CMT1E
Charcot-Marie-Tooth disease-deafness syndrome
mutation, with some cases being very mild and even resembling hereditary neuropathy with liability to pressure palsies, while others having an earlier onset with a more severe phenotype (reminiscent of Dejerine-Sottas syndrome; see these terms) than that seen in CMT1A, caused by gene duplication. These severe cases may also report deafness and much slower motor nerve conduction velocities compared to CMT1A patients.
Charcot-Marie-Tooth disease type 1E
Hypothyroidism due to thyroid-stimulating hormone (TSH) receptor mutations is a type of primary congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to TSH.
Hypothyroidism due to TSH receptor mutations
Isolated TSH deficiency
Isolated thyrotropin deficiency
Isolated thyroid-stimulating hormone (TSH) deficiency is a type of central congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones due to a deficiency in TSH synthesis.
Isolated thyroid-stimulating hormone deficiency
Rare endocrine growth disease
Panhypopituitarism
DSD
Disorder of sex development
46,XX DSD induced by fetal androgens excess
46,XX disorder of sex development induced by fetal androgens excess
46,XY DSD due to a testosterone synthesis defect
46,XY disorder of sex development due to a testosterone synthesis defect
46,XY DSD due to adrenal and testicular steroidogenesis defect
46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect
46,XY DSD due to testicular steroidogenesis defect
46,XY disorder of sex development due to testicular steroidogenesis defect
CLAH
Congenital lipoid adrenal hyperplasia (CLAH) is one of the most severe forms of congenital adrenal hyperplasia (CAH; see this term) characterized by severe adrenal insufficiency and sex reversal in males.
Congenital lipoid adrenal hyperplasia due to STAR deficency
CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency
Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) encompassing salt-wasting and non-salt wasting forms with a wide variety of symptoms, including glucocorticoid deficiency and male undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias.
Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
CAH due to 17-alpha-hydroxylase deficiency
Combined 17-hydroxylase/17,20-lyase deficiency
Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension.
Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
Classic 21-OHD CAH
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classic 21-OHD CAH) is the most common form of congenital adrenal hyperplasia (CAH; see this term), characterized by simple virilizing or salt wasting forms that can manifest with genital ambiguity in females and with adrenal insufficiency (in both sexes), and that presents with dehydration, hypoglycemia in the neonatal period (that can be lethal if untreated), and hyperandrogenia.
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
CAH due to 11-beta-hydroxylase deficiency
CYP11B1 deficiency
Congenital adrenal hyperplasia due to 11 beta-hydroxylase (CYP11B1) deficiency is a rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hyperandrogenism, hypertension and virilization in females.
Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
46,XY disorder of sex development due to isolated 17,20-lyase deficiency is a rare disorder of sex development due to reduced 17,20-lyase activity that affects individuals with 46,XY karyotype and is characterized by ambiguous external genitalia, including micropenis, perineal hypospadias, bifid scrotum, cryptorchidism, and a blind vaginal pouch. Blood pressure and electrolytes are normal whilst hormonal investigations show normal basal and stimulated levels of cortisol, and low basal and stimulated androgen levels.
46,XY disorder of sex development due to isolated 17,20-lyase deficiency
PAIS
Partial androgen resistance syndrome
Partial androgen insensitivity syndrome (PAIS) is a disorder of sex development (DSD) distinct from complete AIS (CAIS; see this term) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens.
Partial androgen insensitivity syndrome
FRAXA syndrome
FXS
FraX syndrome
Martin-Bell syndrome
Fragile X syndrome (FXS) is a rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical features.
Fragile X syndrome
Sterol 27-hydroxylase deficiency
Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis (see this term) characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction.
Cerebrotendinous xanthomatosis
Primary lipodystrophies represent a heterogeneous group of very rare diseases characterized by a generalized or localized loss of body fat (lipoatrophy).
Primary lipodystrophy
Congenital estrogen deficiency
Aromatase deficiency disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women; and tall stature, osteoporosis and obesity in men.
Aromatase deficiency
Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV) (see these terms).
Xeroderma pigmentosum
AR-CMT2
Autosomal recessive axonal Charcot-Marie-Tooth disease type 2
Autosomal recessive axonal hereditary motor and sensory neuropathy
Other metabolic disease
Zeta-associated-protein 70 deficiency
Combined immunodeficiency due to ZAP70 deficiency is a very rare, severe, genetic, combined immunodeficiency disorder characterized by lymphocytosis, decreased peripheral CD8+ T-cells, and presence of normal circulating CD4+ T-cells, leading to immune dysfunction.
Combined immunodeficiency due to ZAP70 deficiency
OBSOLETE: Graft rejection after lung transplantation
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_2470 with label: Matthew-Wood syndrome
Anophthalmia-heart and pulmonary anomalies-intellectual disability syndrome
gene encoding a mitochondrial membrane transporter.
Cardiomyopathy-hypotonia-lactic acidosis syndrome
CDG syndrome type Im
CDG-Im
CDG1M
Carbohydrate deficient glycoprotein syndrome type Im
Congenital disorder of glycosylation type 1m
Congenital disorder of glycosylation type Im
Dolichol kinase deficiency
Hypotonia and ichthyosis due to dolichol phosphate deficiency
gene led to a 96 to 98% reduction in DK activity.
DK1-CDG
Hypotrichosis-congenital ichthyosis syndrome
IFAH syndrome
IHS
Ichthyosis-follicular atrophoderma-hypotrichosis syndrome
Ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome
gene, encoding the recently identified protease, matriptase. Analysis of skin samples from the patients suggests that this enzyme plays a role in epidermal desquamation.
Ichthyosis-hypotrichosis syndrome
Osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome is characterised by severe hypertelorism, brachycephaly, abnormal ears, sloping shoulders, enamel hypoplasia, osteopaenia with frequent fractures, severe myopia, mild to moderate sensorineural hearing loss and mild intellectual deficit. It has been described in two brothers born to first-cousin parents. No chromosomal anomalies were detected. Transmission appears to be autosomal recessive or X-linked.
Osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome
PXE-like syndrome
Pseudoxanthoma elasticum-like syndrome
Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency is a very rare genetic skin disease characterized by severe skin laxity affecting the trunk and limbs.
Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
Acquired Fanconi syndrome secondary to monoclonal gammopathy
Acquired monoclonal immunoglobulin light chain-associated Fanconi syndrome
Fanconi syndrome (FS) is a generalized disorder of renal proximal tubule function. In adults over 50 years of age, FS is frequently related to the urinary secretion of a monoclonal immunoglobulin (Ig) light chain (LC), almost always of the kappa isotype.
Acquired monoclonal Ig light chain-associated Fanconi syndrome
Immunotactoid or fibrillary glomerulonephritis
Immunotactoid or fibrillary glomerulopathy is a group of very rare glomerular diseases, composed of immunotactoid glomerulopathy (ITG) and non-amyloid fibrillary glomerulopathy (non-amyloid FGP) (see these terms), that are characterized by mesangial deposition of monoclonal microtubular or polyclonal fibrillar deposits. Both present clinically with nephrotic range proteinuria, hematuria and renal insufficiency leading to renal failure in many cases. ITG is more likely to manifest with underlying lymphoproliferative disease, hypocomplementemia, dysproteinemia, monoclonal gammopathy or occult cryoglobulinemia. Non-amyloid FGP is 10 times more frequent than ITG.
Immunotactoid or fibrillary glomerulopathy
Essential cryoglobulinemia
Essential mixed cryoglobulinemia
Mixed cryoglobulinemia
Primary cryoglobulinemia
Mixed cryoglobulinemia (MC) is a rare multisystem disease characterized by the presence of circulating cryoprecipitable immune complexes in the serum, manifested clinically by a classical triad of purpura, weakness and arthralgia.
Cryoglobulinemic vasculitis
Cryoglobulinemia type 1
Simple (monoclonal) cryoglobulinemia or type I cryoglobulinemia refers to the presence in the serum of one isotype or subclass of immunoglobulin (Ig) that precipitates reversibly below 37°C.
Simple cryoglobulinemia
Unspecified JIA
Unspecified juvenile idiopathic arthritis is a rare, pediatric, rheumatologic disease, a subtype of juvenile idiopathic arthritis (JIA) characterized by arthritis of an unknown cause that persists for at least 6 weeks, and does not fulfill the criteria for any of the other JIA subtypes, or fulfills criteria for more than one of the other subtypes.
Unspecified juvenile idiopathic arthritis
46,XX DSD induced by maternal-derived androgen
46,XX disorder of sex development induced by maternal-derived androgen
Cerebrohepatorenal syndrome
Zellweger syndrome (ZS) is the most severe variant seen in the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS; see this term), characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction.
Gastrinoma
Zollinger-Ellison syndrome (ZES) is characterized by severe peptic disease (ulcers/esophageal disease) caused by hypergastrinemia secondary to a gastrinoma resulting in increased gastric acid secretion.
Zollinger-Ellison syndrome
Pituitary thyrotrophic adenoma
TSH-oma
Thyroid stimulating hormone-secreting pituitary adenoma
Thyrotroph adenoma
TSH-secreting pituitary adenoma
Functioning pituitary gonadotropic adenoma
Gonadotroph adenoma
Functioning gonadotropic adenoma is a very rare pituitary tumor, macroscopically characterized by a soft, well vascularized, variable sized adenoma, with occasional areas of hemorrage or necrosis, that secretes biologically active gonadotropins. In addition to common neurological signs due to mass effect (headache and/or visual field deterioration), additional clinical manifestations include menstrual irregularities (secondary amenorrhea, oligomenorhea or severe menorrhagia), galactorrhea, infertility or ovarian hyperstimulation syndrome (in premenopausal women), testicular enlargement and, occasionally, hypogonadism (in men) and isosexual precocious puberty (in children).
Functioning gonadotropic adenoma
NFPA
Non-functioning pituitary adenoma
Pituitary deficiency due to Rathke's cleft cysts is a rare, acquired pituitary hormone deficiency characterized by combination of headache, visual field defects that correlate with cyst size, and pituitary dysfunction. Most frequent hormonal manifestations are hypogonadism with amenorrhea/impotence or low libido and galactorrhea.
Pituitary deficiency due to Rathke's cleft cysts
Pituitary dermoid and epidermoid cysts is a rare, acquired pituitary hormone deficiency characterized by the presence of rare, benign tumor in the sellar region. Clinical presentation is either acute or insidious, and is variable according to the cyst location, size and potential rupture. Most commonly patients present with headache, visual disturbances, and pituitary dysfunction.
Pituitary dermoid and epidermoid cysts
Germinoma of the central nervous system
Hypopituitarism due to empty sella turcica syndrome
Pituitary deficiency due to empty sella turcica syndrome
Sheehan syndrome is a rare, acquired, pituitary hormone deficiency disorder resulting from pituitary necrosis following peri- or postpartum hemorrhage characterized by various symptoms depending on resulting hormone decrease (e.g. failure or difficulty with lactation, oligo- or amenorrhea, hot flashes, decreased libido, weakness, fatigue, anorexia, nausea, vomiting, hypoglycemia, hyponatremia, dizziness, decreased muscle mass, adrenal crisis). Secondary hypothyroidism and secondary adrenal insufficiency may also be presenting signs.
Sheehan syndrome
Duplication of the esophagus
Congenital esophageal pouch
Congenital esophageal diverticulum is a rare, non-syndromic malformation of the esophagus, present at birth, and characterized by a false diverticulum, most often located in the upper, posterior esophagus. Many patients are asymptomatic, but respiratory distress, food regurgitation, dysphagia, chest pain, aspiration pneumonia and discomfort are typical presenting manifestations.
Congenital esophageal diverticulum
CPI
Chronic pneumonitis of infancy is a rare pediatric form of interstitial lung disease (ILD, see this term).
Chronic pneumonitis of infancy
NSIP
Non-specific idiopathic interstitial pneumonia
Non-specific interstitial pneumonia
use http://www.orpha.net/ORDO/Orphanet_244 with label: Primary ciliary dyskinesia
Familial angioneurotic edema
HAE
Hereditary angioneurotic edema
Hereditary bradykinine-induced angioedema
Hereditary non histamine-induced angioedema
Hereditary angioedema (HAE) is a genetic disease characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain.
Hereditary angioedema
AAE
Acquired C1 inhibitor deficiency
Acquired angioneurotic edema
Acquired bradykinine-induced angioedema
Acquired non histamine-induced angioedema
Acquired angioedema (AAE) is characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain due to an acquired C1 inhibitor (C1-INH) deficiency.
Acquired angioedema
Familial TAAD
Familial thoracic aortic aneurysm and aortic dissection is a rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm, dissection or dilatation affecting one or more aortic segments (aortic root, ascending aorta, arch or descending aorta) in the absence of any other associated disease. Depending on the size, location and progression rate of dilatation/dissection, patients may be asymptomatic or may present dyspnea, cough, jaw, neck, chest or back pain, head, neck or upper limb edema, difficulty swallowing, voice hoarseness, pale skin, faint pulse and/or numbness/tingling in limbs. Patients have increased risk of presenting life threatening aortic rupture.
Familial thoracic aortic aneurysm and aortic dissection
Isolated cryptophtalmia is a congenital abnormality in which the eyelids are absent and skin covers the ocular bulb, which is often microphthalmic. Six cases of complete bilateral crytophthalmia have been described. Transmission is autosomal dominant.
Isolated cryptophthalmia
Isolated ankyloblepharon filiforme adnatum (AFA) is characterised by the presence of single or multiple thin bands of connective tissue between the upper and lower eyelids, preventing full opening of the eye. Several cases have been reported. It can occur sporadically or following an autosomal dominant transmission pattern. In some cases, AFA can be associated with other disorders, such as trisomy 18. The bands should be removed to avoid amblyopia and this can easily be performed in the neonatal period by cutting with tissue scissors.
Isolated ankyloblepharon filiforme adnatum
Congenital ptosis is characterized by superior eyelid drop present at birth.
Congenital ptosis
Jaw-winking syndrome
Mandibulo-palpebral synkinesis-ptosis syndrome
Marcus-Gunn phenomenon
Marcus-Gunn syndrome is characterised by ptosis associated with maxillopalpebral synkinesis.
Marcus-Gunn syndrome
Congenital Claude-Bernard-Horner syndrome
Congenital Horner syndrome is a rare neurological disorder characterized by relative pupillary miosis and blepharoptosis, evident at birth, caused by interruption of the oculosympathetic innervation at any point along the neural pathway from the hypothalamus to the orbit. Often additional symptoms, such as enophthalmos, facial anhidrosis, iris heterochromia, conjunctival congestion, transient hypotonia and/or pupillary dilation lag, may be present. Association with birth trauma, neoplasms or vascular malformations has been reported.
Congenital Horner syndrome
Epithelioma calcificans of Malherbe
Pilomatricoma
Pilomatrixoma is a rare and benign hair cell-derived tumor occurring mostly in young adults (usually under the age of 20) and characterized as a 3-30 mm solitary, painless, firm, mobile, deep dermal or subcutaneous tumor, most commonly found in the head, neck or upper extremities. When superficial, the tumors tint the skin blue-red. Multiple pilomatrixomas are seen in myotonic dystrophy, Gardner syndrome, Rubinstein-Taybi syndrome, and Turner syndrome (see these terms).
Pilomatrixoma
Congenital alacrima is characterised by deficient lacrimation (ranging from a complete absence of tears to hyposecretion of tears) that is present from birth.
Isolated congenital alacrima
Ring dermoid syndrome
gene have been suggested as a potential cause of the condition.
Ring dermoid of cornea
Rieger's anomaly is a congenital ocular defect caused by anterior segment dysgenesis and is characterized by severe anterior chamber deformity with prominent strands and marked atrophy of the iris stroma, with hole or pseudo-hole formation and corectopia. The term covers the association of these iris and pupil anomalies with the features of Axenfelds anomaly (see this term).
Rieger anomaly
Congenital anterior megalophthalmia
12.5 mm) and a deep anterior eye chamber, without an elevation in intraocular pressure. It can manifest with mild to moderate myopia as well as photophobia and iridodonesis (due to iris hypoplasia). Associated complications include lens dislocation, retinal detachment, presenile cataract development, and secondary glaucoma.
Isolated congenital megalocornea
Isolated congenital sclerocornea
Congenital ectropion uveae is a rare, genetic, non-syndromic developmental defect of the eye characterized by the presence of iris pigment epithelium on the anterior surface of the iris, anterior insertion of the iris, angle dysgenesis and progressive open-angle glaucoma (the latter may present in infancy or may develop later in life). Patients may manifest with headaches, ocular pain, photophobia, and redness, watering and/or swelling of the eye. It can often be associated with neurofibromatosis and less commonly with other ocular abnormalities.
Congenital ectropion uveae
Early-onset non-syndromic cataract is a rare, genetic, non-syndromic developmental defect of the eye disorder, with high clinical and genetic heterogeneity, most frequently characterized by bilateral, symmetrical, non-progressive cataracts which present at birth or in early-childhood. Additional ocular manifestations (e.g. anterior segment dysgenesis, colobomas, nystagmus, microcornea, microphthalmia, myopia) may be associated, however other organs/systems are usually not affected.
Early-onset non-syndromic cataract
Macular coloboma-cleft palate-hallux valgus syndrome is characterised by the association of bilateral macular coloboma, cleft palate, and hallux valgus. It has been described in a brother and sister. Pelvic, limb and digital anomalies were also reported. Transmission is autosomal recessive.
Macular coloboma-cleft palate-hallux valgus syndrome
Congenital retinal detachment
NCRNA disease
Non-syndromic congenital retinal non-attachment
PFVS
PHPV
Persistent fetal vasculature syndrome
Persistent hyperplastic primary vitreous
Snowflake vitreoretinal degeneration (SVD) is characterised by the presence of small granular-like deposits resembling snowflakes in the retina, fibrillary vitreous degeneration and cataract. The prevalence is unknown but the disorder has been described in several families. Transmission is autosomal dominant and the causative gene has been localised to a small region on chromosome 2q36.
Snowflake vitreoretinal degeneration
Familial congenital palsy of trochlear nerve is a rare, genetic, neuro-ophthalmological disease characterized by congenital fourth cranial nerve palsy, manifesting with hypertropia in side gaze, unexplained head tilt, acquired vertical diplopia, and progressive increase in vertical fusional vergence amplitudes with prolonged occlusion. Facial asymmetry (i.e. hemifacial retrusion, upward slanting of mouth on the side of the head tilt, mild enophthalmos of paretic eye) and superior oblique tendon abnormalities (such as absence, redundance, misdirection) are frequently associated. Some asymptomatic cases have been reported.
Familial congenital palsy of trochlear nerve
Aarskog syndrome
Faciodigitogenital syndrome
Faciogenital dysplasia
Aarskog-Scott syndrome (AAS) is a rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature.
Aarskog-Scott syndrome
Acute tubulointerstitial nephritis and uveitis syndrome
Dobrin syndrome
TINU syndrome
Tubulointerstitial nephritis and uveitis syndrome
Lyme borreliosis
Lyme disease
complex.
Relapsing fever
Aase-Smith I syndrome
Hydrocephalus-cleft palate-joint contractures syndrome
Aase-Smith syndrome type I is a very rare genetic disorder characterised by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures.
Aase-Smith syndrome
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_897 with label: Waardenburg-Shah syndrome
Juvenile chronic arthritis
Juvenile rheumatoid arthritis
Juvenile idiopathic arthritis (JIA) is the term used to describe a group of inflammatory articular disorders of unknown cause that begin before the age of 16 and last over 6 weeks. The term juvenile idiopathic arthritis was chosen to signify the absence of any known mechanism underlying the disorder and to highlight the necessity of excluding other types of arthritis occurring in well defined diseases (in particular arthritis occurring in association with infectious, inflammatory and haematooncologic diseases).
Juvenile idiopathic arthritis
Ablepharon macrostomia syndrome is an extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome (see this term).
Ablepharon macrostomia syndrome
IED
Intestinal epithelial dysplasia
Congenital Tufting Enteropathy is a rare congenital enteropathy presenting with early-onset severe and intractable diarrhea that leads to irreversible intestinal failure.
Congenital tufting enteropathy
CHARGE-like syndrome
Cleft palate-coloboma-deafness syndrome
Abruzzo-Erickson syndrome is a multiple congenital anomalies syndrome characterized by a cleft palate, ocular coloboma, hypospadias, mixed conductive-sensorineural hearing loss, short stature, and radio-ulnar synostosis.
Abruzzo-Erickson syndrome
Familial nasal acilia is a rare genetic otorhinolaryngologic disease characterized by respiratory morbidity due to lack of cilia on the respiratory tract epithelial cells. The disease manifests from birth with respiratory distress, neonatal pneumonia, dyspnea, lobar atelectasis and bronchiectasis. Recurrent infections of the upper and lower respiratory tract, chronic humid coughing, and chronic sinusitis, otitis and rhinitis are typical lifelong presenting conditions.
Familial nasal acilia
Catalase deficiency
Acatalasemia is a congenital disorder resulting from a deficiency in erythrocyte catalase, an enzyme responsible for the breakdown of hydrogen peroxide.
Acatalasemia
NAGS deficiency
N-acetylglutamate synthase (NAGS) deficiency is a urea cycle disorder leading to hyperammonaemia.
Hyperammonemia due to N-acetylglutamate synthase deficiency
Achalasia-microcephaly syndrome is an extremely rare genetic syndrome, reported in a few families to date, characterized by the association of microcephaly, intellectual deficit and achalasia (with symptoms of coughing, dysphagia, vomiting, failure to thrive and aspiration appearing in infancy/early-childhood). Antenatal exposure to Mefloquine was reported in one simplex case. An autosomal recessive inheritance has been proposed.
Achalasia-microcephaly syndrome
Aspartylglucosaminidase deficiency
Aspartylglycosaminuria (AGU) is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis).
Aspartylglucosaminuria
Achalasia cardia
Idiopathic achalasia of esophagus
Primary achalasia
Idiopathic achalasia (IA) is a primary esophageal motor disorder characterized by loss of esophageal peristalsis and insufficient lower esophageal sphincter (LES) relaxation in response to deglutition.
Idiopathic achalasia
Acheiropody
Acheiropodia is an extremely rare developmental disorder characterized by bilateral, congenital and complete amputation of the distal extremities (amputation of distal epiphysis of the humerus, distal portion of the tibial diaphysis, aplasia of the radius, ulna, fibula) and aplasia of hands and feet (aplasia of carpal, metacarpal, tarsal, metatarsal and phalangeal bones). Rarely, an ectopic bone can be found at the distal end of the humerus. No other systemic manifestations have been reported and the disorder follows an autosomal recessive pattern of inheritance.
Acheiropodia
Unilateral renal agenesis (URA) is a form of renal agenesis (see this term) characterized by the complete absence of development of one kidney accompanied by an absent ureter.
Renal agenesis, unilateral
Renal hypoplasia is a developmental anomaly in which one or both kidneys (unilateral or bilateral renal hypoplasia, respectively (see these terms)) have a deficit in the number of nephrons and may be small. Oligomeganephronia (see this term) represents a severe variant of hypoplasia in which nephron number is reduced by 80% and nephrons are markedly hypertrophied.
Renal hypoplasia
Renal dysplasia is a form of renal malformation in which the kidney(s) are present but their development is abnormal and incomplete. Renal dysplasia can be unilateral or bilateral (see these terms), segmental, and of variable severity, with renal aplasia corresponding to extreme dysplasia.
Renal dysplasia
Congenital megacalycosis is a rare renal malformation, characterized by non-obstructive dilation of the renal calyces as well as an increased calyceal number (12-20), with a normal renal pelvis, ureter, and bladder. It may be unilateral or bilateral and is usually asymptomatic unless complicated by nephrolithiasis and urinary tract infection.
Congenital megacalycosis
PUV
Posterior urethral valve (PUV) is the most common anomaly of fetal lower urinary tract obstruction (LUTO)and is characterized by an abnormal congenital obstructing membrane that is located within the posterior urethra associated with significant obstruction of the male bladder restricting normal bladder emptying.
Posterior urethral valve
HNF1B-MODY
HNF1B-related renal cysts and diabetes syndrome
RCAD syndrome
Renal cysts-maturity-onset diabetes of the young syndrome
Renal dysfunction-early-onset diabetes syndrome
Renal cysts and diabetes syndrome (RCAD) is a rare form of maturity-onset diabetes of the young (MODY; see this term) characterized clinically by heterogeneous cystic renal disease and early-onset familial non-autoimmune diabetes. Pancreatic atrophy, liver dysfunction and genital tract anomalies are also features of the syndrome.
Renal cysts and diabetes syndrome
CMTDIE
Charcot-Marie-Tooth disease-nephropathy syndrome
Autosomal dominant intermediate Charcot-Marie-Tooth disease type E is a rare hereditary motor and sensory neuropathy disorder characterized by the typical CMT phenotype (slowly progressive distal muscle weakness and atrophy in upper and lower limbs, distal sensory loss in extremities, reduced or absent deep tendon reflexes and foot deformities) associated with focal segmental glomerulosclerosis (manifesting with proteinuria and progression to end-stage renal disease). Mild or moderate sensorineural hearing loss may also been associated. Nerve biopsy reveals both axonal and demyelinating changes and nerve conduction velocities vary from the demyelinating to axonal range (typically between 25-50m/sec.
Autosomal dominant intermediate Charcot-Marie-Tooth disease type E
Pauci-immune glomerulonephritis (GN) is one of the most frequent causes of rapidly progressive GN (RPGN, see this term). It is characterized clinically by renal manifestations of RPGN (hematuria, hypertension) leading to renal failure within days or weeks, and may be associated with manifestations of systemic vasculitis (arthralgia, fever, seizures, mono neuritis and lung involvement). Pauci-immune GN is histologically characterized by focal necrotizing and crescentic GN, with mild or absent glomerular staining for immunoglobulin and complement by fluorescence microscopy, which may manifest either as part of a systemic small vessel vasculitis (including microscopic polyangiitis, granulomatosis with polyangiitis and eosinophilic granulomatosis with polyangiitis (see these terms)), or rarely as part of renal-limited vasculitis (RLV, idiopathic crescentic GN). Immunologic classification is based on the presence or absence of circulating anti-neutrophil cytoplasmic antibodies (ANCAs), namely pauci-immune-GN with ANCA and pauci-immune GN without ANCA (see these terms).
Pauci-immune glomerulonephritis
HVDRR
Hereditary vitamin D-resistant rickets
VDDR II
VDRR II
Vitamin D-dependent rickets type II
Vitamin D-resistant rickets type II
Hypocalcemic vitamin D-resistant rickets (HVDRR) is a hereditary disorder of vitamin D action characterized by hypocalcemia, severe rickets and in many cases alopecia.
Hypocalcemic vitamin D-resistant rickets
TPHA
Transient pseudohypoaldosteronism is a renal tubulopathy characterized by renal tubular resistance to aldosterone, characterized by hyponatremia, metabolic acidosis and hyperkalemia and manifesting as dehydration, secondary to urinary tract malformation and infections in infants.
Transient pseudohypoaldosteronism
Unilateral renal dysplasia is a form of renal dysplasia (RD; see this term), a renal tract malformation in which the development of one kidney is abnormal and incomplete. Unilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD.
Renal dysplasia, unilateral
Bilateral renal dysplasia is a form of renal dysplasia (RD; see this term), a renal tract malformation in which the development of both kidneys is abnormal and incomplete. Bilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD.
Renal dysplasia, bilateral
Unilateral congenital megacalycosis
Congenital bilateral megacalycosis
use http://www.orpha.net/ORDO/Orphanet_2970 with label: Prune belly syndrome
Achondrogenesis describes a rare group of lethal skeletal dysplasias characterized by an endochondral ossification deficiency that leads to dwarfism with extreme micromelia, a small thorax, a prominent abdomen, anasarca and polyhydramnios. There are three types of achondrogenesis that exist and that differ clinically, radiologically, histologically and genetically: achondrogensis type 1a, type 1b and type 2 (see these terms).
Achondrogenesis
Idiopathic steroid-sensitive nephrotic syndrome with focal segmental glomerulosclerosis
Idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis
Steroid-sensitive MCNS
Idiopathic steroid-sensitive nephrotic syndrome with minimal change
Idiopathic steroid-sensitive nephrotic syndrome with diffuse mesangial proliferation
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation
Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis
Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
Sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes
Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation
FXTAS syndrome
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a rare neurodegenerative disorder characterized by adult-onset progressive intention tremor and gait ataxia.
Fragile X-associated tremor/ataxia syndrome
Classic Pfeiffer syndrome
Pfeiffer syndrome type 1 (PS1) is a mild to moderately severe type of Pfeiffer syndrome (PS; see this term), characterized by bicoronal craniosynostosis, variable finger and toe malformations, and in most cases, normal intellectual development.
Pfeiffer syndrome type 1
Pfeiffer syndrome type 2 (PS2) is a frequent and severe type of Pfeiffer syndrome (PS; see this term), characterized by cloverleaf skull, severe associated functional disorders, and hand/foot and elbow/knee abnormalities.
Pfeiffer syndrome type 2
Pfeiffer syndrome type 3 (PS3) is a severe type of Pfeiffer syndrome (PS; see this term), characterized by bicoronal craniosynostosis, severe associated functional disorders, and hand, foot and elbow abnormalities.
Pfeiffer syndrome type 3
Crouzon-dermoskeletal syndrome
Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease, see this term), associated with acanthosis nigricans (AN; see this term).
Crouzon syndrome-acanthosis nigricans syndrome
This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies.
Cloverleaf skull-multiple congenital anomalies syndrome
Short rib-polydactyly syndrome type 4
Short rib-polydactyly syndrome (SRPS), Beemer-Langer type is an extremely rare type of SRPS developing prenatally or immediately after birth and characterized by short and narrow thorax with horizontally oriented ribs. Other bone features include small iliac bones, short tubular bones, bowing of long bones and rarely pre- and post-axial polydactyly. Brain defects are common and some cases of cleft lip, absent internal genitalia and renal, biliary and pancreatic cysts have been reported. The course is rapidly fatal.
Short rib-polydactyly syndrome, Beemer-Langer type
Short rib-polydactyly syndrome type 2
Short rib-polydactyly syndrome, Majewski type
Short rib-polydactyly syndrome type 1
Short rib-polydactyly syndrome (SRPS), Saldino-Noonan type is an extremely rare type of SRPS with neonatal onset characterized by polydactyly, hydropic appearance, and small thorax with short horizontal ribs causing fatal cardiorespiratory distress. Affected patients also have extreme micromelia, pointed metaphyses, and a range of other ossification defects (vertebrae, calvaria, pelvis, hand and foot bones). Extraskeletal manifestations may include polycystic kidneys, transposition of the great vessels, and atresia of the gastrointestinal and genitourinary systems.
Short rib-polydactyly syndrome, Saldino-Noonan type
Short rib-polydactyly syndrome type 3
Short rib-polydactyly syndrome, Verma-Naumoff type is a short rib-polydactyly syndrome characterized by short limb dwarfism, short ribs with thoracic dysplasia, postaxial polydactyly and protuberant abdomen. Associated multiple malformations include cardiovascular defects, renal agenesis /hypoplasia, abnormal cloacal development (ambiguous genitalia, anal atresia) and cerebellar hypoplasia. Short rib-polydactyly syndrome, Verma-Naumoff type follows an autosomal recessive mode of transmission. The disease is usually fatal in the perinatal period.
Short rib-polydactyly syndrome, Verma-Naumoff type
Cloverleaf skull-micromelic bone dysplasia syndrome
TD2
Thanatophoric dwarfism type 2
Thanatophoric dwarfism-cloverleaf skull syndrome
Thanatophoric dysplasia type 2
Thanatophoric dysplasia, Glasgow variant
Polyostotic fibrous dysplasia
Jaffe-Lichtenstein disease
Monostotic fibrous dysplasia
Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis is a type 2 collagen-related bone disorder characterized by precocious, generalized osteoarthritis (with onset as early as childhood) and mild, dysplastic spinal changes (flattening of vertebrae, irregular endplates and wedge-shaped deformities) resulting in a mildly short trunk.
Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
Spondyloepiphyseal dysplasia, Omani type
Spondyloepimetaphyseal dysplasia, Pakistani type
Spondyloepimetaphyseal dysplasia (SEMD), Pakistani type is characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence.
Spondyloepimetaphyseal dysplasia, PAPSS2 type
Spondyloepiphyseal dysplasia, Kimberley type (SEDK) is characterized by short stature and premature degenerative arthropathy.
Spondyloepiphyseal dysplasia, Kimberley type
Spondyloepiphyseal dysplasia tarda (SEDT) is characterized by disproportionate short stature in adolescence or adulthood, associated with a short trunk and arms and barrel-shaped chest.
Spondyloepiphyseal dysplasia tarda
Pancreatic adenoma
Adenoma of the pancreas is a rare, benign, tumor of the pancreas characterized by variable number and size of the cysts lined with glycogen rich epithelial cells. Clinical manifestation may include epigastric or abdominal pain, weight loss, diabetes, jaundice and palpable abdominal mass. Some patients have no symptoms and the tumor is discovered incidentally.
Adenoma of the pancreas
Duane-radial ray syndrome
related disorders including acro-renal-ocular syndrome and Holt-Oram syndrome (see these terms). Transmission is autosomal dominant.
Okihiro syndrome
Achondrogenesis, Langer-Saldino type
Achondrogenesis type 2 (ACG2), a form of achondrogenesis (see this term), is a very rare and lethal skeletal dysplasia and part of the spectrum of type 2 collagen-related bone disorders (see this term), characterizedby severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in some) and distinctive histological features of the cartilage.
Achondrogenesis type 2
Hypochondrogenesis
Achondrogenesis, Parenti-Fraccaro type
Achondrogenesis type 1B (ACG1B), a form of achondrogenesis (see this term), is a rare lethal skeletal dysplasia characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage.
Achondrogenesis type 1B
Achondrogenesis, Houston-Harris type
Achondrogenesis type 1A (ACG1A), a form of achondrogenesis (see this term), is a very rare, lethal skeletal dysplasia characterized by dwarfism with extremely short limbs, narrow chest, short ribs that are easily fractured, soft skull bones and distinctive histological features of the cartilage.
Achondrogenesis type 1A
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_448242 with label: Autosomal recessive brachyolmia
Brachyolmia type 2
Autosomal recessive brachyolmia, Maroteaux type is a relatively mild form of brachyolmia (see this term), a group of rare genetic skeletal disorders, characterized by short trunk/short stature, generalized platyspondyly and rounding of vertebral bodies. It remains unknown whether the phenotype represents a single disease entity or a heterogeneous group of mild skeletal dysplasias.
Brachyolmia, Maroteaux type
Brachyolmia type 3
Autosomal dominant brachyolmia is a relatively severe form of brachyolmia (see this term), a group of rare genetic skeletal disorders, characterized by short-trunked short stature, platyspondyly and kyphoscoliosis. Degenerative joint disease (osteoarthropathy) in the spine, large joints and interphalangeal joints becomes manifest in adulthood.
Autosomal dominant brachyolmia
Autosomal recessive multiple epiphyseal dysplasia
EDM4
MED4
Polyepiphyseal dysplasia type 4
rMED
Multiple epiphyseal dysplasia type 4 is a multiple epiphyseal dysplasia with a late-childhood onset, characterized by joint pain involving hips, knees, wrists, and fingers with occasional limitation of joint movements, deformity of hands, feet, and knees (club foot, clinodactyly, brachydactyly), scoliosis and slightly reduced adult height. Radiographs display flat epiphyses with early arthritis of the hip, and double-layered patella. Multiple epiphyseal dysplasia type 4 follows an autosomal recessive mode of transmission. The disease is allelic to diastrophic dwarfism, atelosteogenesis type 2 and achondrogenesis type 1B with whom it forms a clinical continuum.
Multiple epiphyseal dysplasia type 4
EDM1
MED1
Polyepiphyseal dysplasia type 1
Multiple epiphyseal dysplasia type 1 (MED 1) is a form of multiple epiphyseal dysplasia that is characterized by normal or mild short stature, pain in the hips and/or knees, progressive deformity of extremities and early-onset osteoarthrosis. Specific features to MED 1 include a more pronounced involvement of hip joints and gait abnormality and a shorter adult height. MED1 is allelic to pseudoachondroplasia with which it shares clinical and radiological features. The disease follows an autosomal dominant mode of transmission.
Multiple epiphyseal dysplasia type 1
BHMED
Bilateral hereditary micro-epiphyseal dysplasia
MED5
Polyepiphyseal dysplasia type 5
Multiple epiphyseal dysplasia type 5 is a multiple epiphyseal dysplasia characterized by an early-onset of pain and stiffness (involving knee and hip), progressive deformity of the extremities and precocious osteoarthritis associated with delayed and irregular ossification of epiphyses. Features specific to multiple epiphyseal dysplasia, type 5 include normal stature and lesser incidence of gait abnormalities. Radiographs reveal epiphyseal and metaphyseal irregularities. Multiple epiphyseal dysplasia type 5 follows an autosomal dominant mode of transmission.
Multiple epiphyseal dysplasia type 5
use http://www.orpha.net/ORDO/Orphanet_251 with label: Multiple epiphyseal dysplasia
OBSOLETE: Multiple epiphyseal dysplasia, unclassified type
Spondylometaphyseal dysplasia, Kozlowski type is characterized by short stature (short-trunk dwarfism), scoliosis, metaphyseal abnormalities in the femur (prominent in the femoral neck and trochanteric area), coxa vara and generalized platyspondyly.
Spondylometaphyseal dysplasia, Kozlowski type
Spondylometaphyseal dysplasia, Sutcliffe type
Spondylometaphyseal dysplasia, 'corner fracture' type is a skeletal dysplasia associated with short stature, developmental coxa vara, progressive hip deformity, simulated 'corner fractures' of long tubular bones and vertebral body abnormalities (mostly oval vertebral bodies).
Spondylometaphyseal dysplasia, 'corner fracture' type
Spondylometaphyseal dysplasia with severe genu valgum
Spondylometaphyseal dysplasia, Algerian type
Spondylometaphyseal dysplasia, Schmidt type is characterized by short stature, myopia, ,small pelvis, progressive kypho-scoliosis, wrist deformity, severe genu valgum, short long bones, and severe metaphyseal dysplasia with moderate spinal changes and minimal changes in the hands and feet.
Spondylometaphyseal dysplasia, Schmidt type
Spondylometaphyseal dysplasia (SEMD), Sedaghatian type is a neonatal lethal form of spondylometaphyseal dysplasia characterized by severe metaphyseal chondrodysplasia, mild rhizomelic shortness of the upper limbs, and mild platyspondyly.
Spondylometaphyseal dysplasia, Sedaghatian type
Congenital longitudinal deficiency of the ulna
Ulnar clubhand
Ulnar longitudinal meromelia
Ulnar hemimelia is a congenital ulnar deficiency of the forearm characterized by complete or partial absence of the ulna bone.
Ulnar hemimelia
Congenital longitudinal deficiency of the radius
Radial clubhand
Radial longitidinal meromelia
Radial ray agenesis
Radial hemimelia is a congenital longitudinal deficiency of the radius bone of the forearm characterized by partial or total absence of the radius.
Radial hemimelia
Congenital absence of tibia
Congenital aplasia and dysplasia of the tibia with intact fibula
Congenital longitudinal deficiency of the tibia
Tibial longitudinal meromelia
Tibial hemimelia is a rare congenital anomaly characterized by deficiency of the tibia with a relatively intact fibula.
Tibial hemimelia
Congenital longitudinal deficiency of the fibula
Fibular longitudinal meromelia
Fibular hemimelia is a congenital longitudinal limb deficiency characterized by complete or partial absence of the fibula bone.
Fibular hemimelia
Autosomal recessive Kenny-Caffey syndrome
Autosomal dominant Kenny-Caffey syndrome
Autosomal dominant omodysplasia
Micromelic dysplasia-dislocation of radius syndrome
Autosomal recessive omodysplasia
Cousin syndrome
Familial pelvis-scapular dysplasia
Pelviscapular dysplasia (Cousin syndrome) is characterized by the association of pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphism.
Pelviscapular dysplasia
Postaxial polydactyly type A
Postaxial polydactyly type B
PPD2
Preaxial polydactyly type 2
Polydactyly of a triphalangeal thumb or PPD2 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, that is characterized by the presence of a usually opposable triphalangeal thumb with or without additional duplication of one or more skeletal components of the thumb. The thumb appearance can differ widely in shape (wedge to rectangular) or it can be deviated in the radio-ulnar plane (clinodactyly). PPD2 is also associated with systemic syndromes, including Holt-Oram syndrome and Fanconi anemia (see these terms).
Polydactyly of a triphalangeal thumb
PPD3
Preaxial polydactyly type 3
Polydactyly of an index finger or PPD3 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific of the index finger. Two forms of PPD3 have been characterized: unilateral and bilateral (see these terms). There have been no further descriptions in the literature since 1962.
Polydactyly of an index finger
PPD4
Preaxial polydactyly type 4
Polysyndactyly or PPD4 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, characterized by the presence of a thumb showing the mildest degree of duplication, being broad, bifid or with radially deviated distal phalanx. Syndactyly of various degrees of third-and-fourth fingers is occasionally present.
Polysyndactyly
PPD1
Preaxial polydactyly type 1
Polydactyly of a biphalangeal thumb or PPD1 is the most common form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, that is characterized by the duplication of one or more skeletal components of a biphalangeal thumb. Hands are preferentially affected (in bilateral), and the right hand is more commonly involved than the left.
Polydactyly of a biphalangeal thumb
Spondyloepimetaphyseal dysplasia congenita, Strudwick type is characterized by disproportionate short stature from birth (with a very short trunk and shortened limbs) and skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses).
Spondyloepimetaphyseal dysplasia congenita, Strudwick type
Spondyloepimetaphyseal dysplasia, Menger type
Spondyloepimetaphyseal dysplasia, anauxetic type
Anauxetic dysplasia
X-linked spondyloepimetaphyseal dysplasia is a rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with mesomelic short limbs, leg bowing, lumbar lordosis, brachydactyly, joint laxity and a waddling gait. Radiographs show platyspondyly with central protrusion of anterior vertebral bodies, kyphotic angulation and very short long bones with dysplastic epiphyses and flarred, irregular, cupped metaphyses.
X-linked spondyloepimetaphyseal dysplasia
SEMD, Irapa type
Spondyloepimetaphyseal dysplasia, Irapa type is characterized by disproportionate short-trunked short stature, pectus carinatum, short arms, short and broad hands, short metatarsals, flat and broad feet, coxa vara, genu valgum, osteoarthritis, arthrosis and moderate-to-serious gait impairment.
Spondyloepimetaphyseal dysplasia, Irapa type
SEMD, Shohat type
Spondyloepimetaphyseal dysplasia congenita, Shohat type is characterized by severely disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly.
Spondyloepimetaphyseal dysplasia, Shohat type
SEMD type 2
SEMD, Missouri type
Spondyloepimetaphyseal dysplasia type 2
Spondyloepimetaphyseal dysplasia, Missouri type is characterized by moderate-to-severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood.
Spondyloepimetaphyseal dysplasia, Missouri type
Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia
Spondyloepimetaphyseal dysplasia, Sponastrime type
SPONASTRIME dysplasia
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome is a rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with shortening of upper and lower limbs, short and broad fingers with short hands, narrowed chest with rib abnormalities and pectus excavatum, abnormal chondral calcifications (incl. larynx, trachea and costal cartilages) and facial dysmorphism (frontal bossing, hypertelorism, prominent eyes, short flat nose, wide nostrils, high-arched palate, long philtrum). Platyspondyly (esp. of cervical spine) and abnormal epiphyses and metaphyses are observed on radiography. Atlantoaxial instability causing spinal compression and recurrent respiratory disease are potential complications that may result lethal.
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
SEMD-JL
SEMDJL1
Spondyloepimetaphyseal dysplasia with joint laxity type 1
Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type
Spondyloepimetaphyseal dysplasia with joint laxity
SEMD-MD
SEMDJL2
Spondyloepimetaphyseal dysplasia with joint laxicity, Hall type
Spondyloepimetaphyseal dysplasia with joint laxity type 2
Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type
Spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type
Spondyloepimetaphyseal dysplasia with multiple dislocations is a rare genetic primary bone dysplasia disorder characterized by midface hypoplasia, short stature, generalized joint laxity, multiple joint dislocations (most frequently of knees and hips), limb malalignment (genu valgum/varum) and progressive spinal deformity (e.g. kyphosis/scoliosis). Radiography reveals distinctive slender metacarpals and metatarsals, as well as small, irregular epiphyses, metaphyseal irregularities with vertical striations, constricted femoral necks and mild platyspondyly, among others.
Spondyloepimetaphyseal dysplasia with multiple dislocations
use http://www.orpha.net/ORDO/Orphanet_1451 with label: CINCA syndrome
OBSOLETE: CINCA syndrome with NLRP3 mutations
OBSOLETE: CINCA syndrome without NLRP3 mutations
FHH type 1
Familial hypocalciuric hypercalcemia type 1
Osebold-Remondini syndrome
Brachydactyly A6 (BDA6) is characterized by brachymesophalangy with mesomelic short limbs, and carpal and tarsal bone abnormalities. In general, the affected individuals are of slightly short stature and normal intelligence. The syndrome has been described in a kindred with seven affected members from three generations. Transmission appears to be autosomal dominant.
Brachydactyly type A6
Brachydactyly type B (BDB) is a very rare congenital malformation characterized by hypoplasia or aplasia of the terminal parts of fingers 2 to 5, with complete absence of the fingernails.
Brachydactyly type B
), have been reported in BDC patients. Many studies support an autosomal dominant mode of inheritance.
Brachydactyly type C
Brachydactyly type E (BDE) is a congenital malformation of the digits characterized by variable shortening of the metacarpals with more or less normal length phalanges, although the terminal phalanges are often short.
Brachydactyly type E
Brachydactyly, Farabee type
Brachydactyly type A1 (BDA1) is a congenital malformation characterized by apparent shortness (or absence) of the middle phalanges of all digits, and occasional fusion with the terminal phalanges.
Brachydactyly type A1
Brachydactyly type A5 (BDA5) is a very rare congenital malformation of the digits characterized by absence of the middle phalanges (usually of digits 2 to 5), nail dysplasia and duplicated terminal phalanx of the thumb.
Brachydactyly type A5
Brachydactyly, Temtamy type
Brachymesophalangy II and V
Brachydactyly type A4 (BDA4) is a congenital malformation characterized by brachymesophalangy affecting mainly the 2nd and the 5th digit.
Brachydactyly type A4
Brachydactyly types B and E combined
Pitt-Williams brachydactyly
Ballard syndrome is characterized by hypoplasia of the distal phalanges of the ulnar side of the hand and shortening of one or more metacarpals. In contrast to brachydactyly type E, patients with Ballard syndrome have normal stature.
Ballard syndrome
Brachydactyly, Mohr-Wriedt type
Brachydactyly type A2 (BDA2) is a congenital malformation characterized by shortening (hypoplasia or aplasia) of the middle phalanges of the index finger and, sometimes, of the little finger.
Brachydactyly type A2
Brachydactyly, Smorgasbord type
Brachydactyly type A7 (Smorgasbord type) is a form of brachydactyly that presents with the characteristic features of brachydactyly type A2 (shortening of the middle phalanges of the index finger and, sometimes, of the little finger) and type D (shortening of the distal phalanx of the thumb) plus various additional features.
Brachydactyly type A7
Genochondromatosis type 2 is a rare genetic bone development disorder characterized by normal clavicles and symmetrical, generalized metaphyseal enchondromas, particularly in the distal femur, proximal humerus, and bones of the wrists, hands, and feet. Lesions regress later in life with growth cartilage obliteration. Clinical examination is normal and the course of the disease is benign.
Genochondromatosis type 2
Juvenile sialidosis type 2
Congenital sialidosis type 2
Syndactyly type 1 (SD1), also named zygodactyly in the past, is a distal limb malformation characterized by complete or partial webbing between the 3th and 4th fingers and/or the 2nd and 3rd toes.
Syndactyly type 1
Synpolydactyly
Syndactyly type 2 or synpolydactyly (SPD) is a rare congenital distal limb malformation characterized by the combination of syndactyly and polydactyly.
Syndactyly type 2
SD3
Syndactyly of fingers 4 and 5
Syndactyly type 3 (SD3) is a rare congenital distal limb malformation characterized by complete and bilateral syndactyly between the 4th and 5th fingers.
Syndactyly type 3
Polysyndactyly, Haas type
Syndactyly type 4 (SD4) is a very rare congenital distal limb malformation characterized by complete bilateral syndactyly (involving all digits 1 to 5).
Syndactyly type 4
Postaxial syndactyly with metacarpal synostosis
SD5
Syndactyly type 5 (SD5) is a very rare congenital limb malformation characterized by postaxial syndactyly of hands and feet, associated with metacarpal and metatarsal fusion of fourth and fifth digits.
Syndactyly type 5
Brachydactyly-syndactyly, Zhao type is a recently described syndrome associating a brachydactyly type A4 (short middle phalanges of the 2nd and 5th fingers and absence of middle phalanges of the 2nd to 5th toes) and a syndactyly of the 2nd and 3rd toes. Metacarpals and metatarsals anomalies are common.
Brachydactyly-syndactyly, Zhao type
Rare bone disease
FGFR3-related chondrodysplasia
Type 2 collagen-related bone disorder
Type 11 collagen-related bone disorder
Sulfation-related bone disorder
Perlecan-related bone disorder
Bone filaminopathy
Filamin-related bone disorder
SRP
Short rib dysplasia
Ciliopathies with major skeletal involvement
use http://www.orpha.net/ORDO/Orphanet_2635 with label: Metatropic dysplasia
Multiple epiphyseal dysplasia and pseudoachondroplasia
Multiple metaphyseal dysplasia
Spondylodysplastic dysplasia
OBSOLETE: Moderate spondylodysplastic dysplasia
Acromelic dysplasia
Acromesomelic dysplasia
Mesomelic and rhizo-mesomelic dysplasia
Bent bone dysplasia
Campomelic dysplasia and related disorders
Slender bone dysplasia
Primary osteodysplasia with multiple joint dislocations
Primary skeletal dysplasia with multiple joint dislocations
Primary bone dysplasia with multiple joint dislocations
CDP
Chondrodysplasia punctata
Neonatal osteosclerotic dysplasia
Primary osteodysplasia with increased bone density
Primary skeletal dysplasia with increased bone density
Sclerosing bone dysplasia
Primary bone dysplasia with increased bone density
use http://www.orpha.net/ORDO/Orphanet_93444 with label: Primary bone dysplasia with increased bone density
OBSOLETE: Bone disease with increased bone density and metaphyseal or diaphyseal involvement
Primary osteodysplasia with decreased bone density
Primary skeletal dysplasia with decreased bone density
Primary bone dysplasia with decreased bone density
Primary osteodysplasia with defective bone mineralization
Primary skeletal dysplasia with defective bone mineralization
Primary bone dysplasia with defective bone mineralization
Dysostosis multiplex
Lysosomal storage disease with skeletal involvement
Primary osteolysis
Primary osteodysplasia with disorganized development of skeletal components
Primary skeletal dysplasia with disorganized development of skeletal components
Primary bone dysplasia with disorganized development of skeletal components
Cleidocranial dysplasia and isolated cranial ossification defect
OBSOLETE: Craniosynostosis syndrome or cranial ossification disease
Dysostosis with predominant craniofacial involvement
Dysostosis with predominant vertebral and costal involvement
Patellar dysostosis
use http://www.orpha.net/ORDO/Orphanet_69028 with label: Dysostosis with brachydactyly
Non-syndromic limb hypoplasia
Non-syndromic limb reduction defect
Non-syndromic polydactyly, syndactyly and/or hyperphalangy
Syndrome with synostosis or other joint formation defect
Overgrowth syndrome
Chromosomal disease with overgrowth
Lethal chondrodysplasia
use http://www.orpha.net/ORDO/Orphanet_364536 with label: Primary bone dysplasia with micromelia
use http://www.orpha.net/ORDO/Orphanet_93448 with label: Lysosomal storage disease with skeletal involvement
OBSOLETE: Miscellaneous metabolic disease associated with bone anomaly
use http://www.orpha.net/ORDO/Orphanet_68341 with label: Multiple congenital anomalies/dysmorphic syndrome
OBSOLETE: Dysmorphic syndrome associated with bone anomaly
Hurler disease
MPS1H
MPSIH
Mucopolysaccharidosis type 1H
Mucopolysaccharidosis type IH
Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy.
Hurler syndrome
MPS1S
MPSIS
Mucopolysaccharidosis type 1S
Mucopolysaccharidosis type IS
Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development.
Scheie syndrome
MPS1H/S
MPSIH/S
Mucopolysaccharidosis type 1H/S
Mucopolysaccharidosis type IH/S
Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1; see this term) between the two extremes Hurler syndrome and Scheie syndrome (see these terms); it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development.
Hurler-Scheie syndrome
Achondroplasia-SCID syndrome
Achondroplasia-Swiss type agammaglobulinemia syndrome
Achondroplasia-severe combined immunodeficiency syndrome
Immunodeficiency-short limb dwarfism syndrome
Short limb skeletal dysplasia with SCID
Short-limb skeletal dysplasia with severe combined immunodeficiency is an extremely rare type of SCID (see this term) characterized by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes) (see this term), associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity.
Short-limb skeletal dysplasia with severe combined immunodeficiency
CAKUT
Congenital anomalies of kidney and urinary tract
Renal or urinary tract malformation
Non-syndromic renal or urinary tract malformation
Syndromic renal or urinary tract malformation
Glomerular disease
Basement membrane disease
Secondary glomerular disease
SLE, pediatric onset
Pediatric systemic lupus erythematosus
MC type II
Type II mixed cryoglobulinemia, a relatively rare clinico-serological subtype of mixed cryoglobulinemia (MC, see this term), is an immune complex disorder characterized by purpura, weakness and arthralgia and defined immunochemically by cryoglobulins composed of polyclonal IgGs (autoantigens) and monoclonal IgM (autoantibody).
Type II mixed cryoglobulinemia
MC type III
Type III mixed cryoglobulinemia, a relatively rare clinico-serological subtype of mixed cryoglobulinemia (MC, see this term), is an immune complex disorder characterized by purpura, weakness and arthralgia and defined immunochemically by cryoglobulins containing both polyclonal IgGs and polyclonal IgMs.
Mixed cryoglobulinemia type III
HCDD
Heavy chain deposition disease
LHCDD
Light and heavy chain deposition disease
LCDD
Light chain deposition disease
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_329931 with label: C3 glomerulonephritis
C3 deposition glomerulonephritis without proliferation
Apolipoprotein A-I amyloidosis
Familial amyloid nephropathy due to apolipoprotein A-I variant
Familial renal amyloidosis due to apolipoprotein A-I variant
Hereditary amyloid nephropathy due to apolipoprotein A-I variant
Hereditary renal amyloidosis due to apolipoprotein A-I variant
AApoAI amyloidosis is a rare, hereditary amyloidosis with primary renal involvement characterized by renal interstitial and medullary deposition of amyloid, low plasma levels of ApoA-1 and slow disease progression. Main clinical signs and symptoms are hypertension, proteinuria, hematuria and edema due to chronic renal insufficiency leading to end stage renal disease. Hepatosplenomegaly, progressive cardiomyopathy and involvement of skin, testes and adrenals (hypergonadotropic hypogonadism) have also been reported.
AApoAI amyloidosis
Familial amyloid nephropathy due to lysozyme variant
Familial renal amyloidosis due to lysozyme variant
Hereditary amyloid nephropathy due to lysozyme variant
Hereditary renal amyloidosis due to lysozyme variant
Lysozyme amyloidosis
ALys amyloidosis is a rare, hereditary amyloidosis with primary renal involvement characterized by amyloid deposition in the kidney glomeruli and medulla, gastrointestinal tract, liver, spleen and slow disease progression. Symptoms and signs include nausea, vomiting, dyspepsia, gastritis, gastrointestinal hemorrhage, abdominal pain, hepatic rupture, sicca syndrome, purpura and petechiae, lymphadenopathy and renal dysfunction.
ALys amyloidosis
Familial amyloid nephropathy due to fibrinogen A alpha-chain variant
Fibrinogen A alpha-chain amyloidosis
Hereditary amyloid nephropathy due to fibrinogen A alpha-chain variant
Hereditary renal amyloidosis due to fibrinogen A alpha-chain variant
AFib amyloidosis is a rare, hereditary amyloidosis with primary renal involvement characterized by fibrinogen A-alpha-chain amyloid deposition predominantly in the kidney glomeruli and clinically presenting with hypertension, uremia, nephrotic syndrome slowly progressing to end-stage renal disease. Extra-renal involvement is possible, due to neurological, cardiac, visceral and vascular amyloid deposition.
AFib amyloidosis
use http://www.orpha.net/ORDO/Orphanet_767 with label: Polyarteritis nodosa
OBSOLETE: Pediatric polyarteritis nodosa
use http://www.orpha.net/ORDO/Orphanet_90291 with label: Systemic sclerosis
Juvenile PM
#64258;ammatory myopathy (IIM) characterized by an onset before 18 years of age of chronic skeletal muscle inflammation, manifesting as progressive, proximal and distal muscle weakness and atrophy.
Juvenile polymyositis
Rhizomelic pseudopolyarthritis
Polymyalgia rheumatica
Membranoproliferative glomerulonephritis type 2
Dense deposit disease, a histological subtype of MPGN (see this term) is an idiopathic chronic progressive kidney disorder distinguished by the presence of intra-membranous dense deposits in addition to immune complex subendothelial deposits in the glomerular capillary walls. This form often has a higher recurrence rate after a kidney transplant and is associated with extra-renal manifestations such as familial drusen (see this term).
Dense deposit disease
Thrombotic microangiopathy
Atypical HUS with C3 anomaly
D-HUS with C3 anomaly
Hemolytic-uremic syndrome without diarrhea with C3 anomaly
aHUS with C3 anomaly
Atypical hemolytic-uremic syndrome with C3 anomaly
Atypical HUS with MCP/CD46 anomaly
D-HUS with MCP/CD46 anomaly
Hemolytic-uremic syndrome without diarrhea with MCP/CD46 anomaly
aHUS with MCP/CD46 anomaly
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
Atypical HUS with B factor anomaly
D-HUS with B factor anomaly
Hemolytic-uremic syndrome without diarrhea with B factor anomaly
aHUS with B factor anomaly
Atypical hemolytic-uremic syndrome with B factor anomaly
Atypical HUS with H factor anomaly
D-HUS with H factor anomaly
Hemolytic-uremic syndrome without diarrhea with H factor anomaly
aHUS with H factor anomaly
Atypical hemolytic-uremic syndrome with H factor anomaly
Atypical HUS with I factor anomaly
D-HUS with I factor anomaly
Hemolytic-uremic syndrome without diarrhea with I factor anomaly
aHUS with I factor anomaly
Atypical hemolytic-uremic syndrome with I factor anomaly
Atypical HUS with anti-factor H antibodies
D-HUS with anti-factor H antibodies
Hemolytic-uremic syndrome without diarrhea with anti-factor H antibodies
aHUS with anti-factor H antibodies
Atypical hemolytic-uremic syndrome with anti-factor H antibodies
Congenital ADAMTS-13 deficiency
Congenital TTP
Familial TTP
Upshaw-Schulman syndrome
Congenital thrombotic thrombocytopenic purpura is the hereditary form of thrombotic thrombocytopenic purpura (TTP; see this term) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity.
Congenital thrombotic thrombocytopenic purpura
Acquired TTP
Autoimmune thrombotic thrombocytopenic purpura
Acquired thrombotic thrombocytopenic purpura is the non-hereditary form of thrombotic thrombocytopenic purpura (TTP; see this term), characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity.
Acquired thrombotic thrombocytopenic purpura
Familial cystic renal disease
Late-onset nephronophthisis
Autosomal recessive infantile NPHP
Autosomal recessive infantile nephronophthisis
Infantile nephronophthisis
Juvenile nephronophthisis
Nephropathy secondary to a storage or other metabolic disease
Glycolic aciduria
Peroxisomal alanine-glyoxylate aminotransferase deficiency
Primary hyperoxaluria type 1 (PH1) is a rare disorder of glyoxylate metabolism characterized by the accumulation of oxalate due to a deficiency of the peroxisomal hepatic enzyme L-alanine: glyoxylate aminotransferase (AGT). Clinical presentation is variable, ranging from occasional symptomatic nephrolithiasis to nephrocalcinosis and end-stage renal disease with systemic involvement.
Primary hyperoxaluria type 1
D-glycerate dehydrogenase deficiency
L-glyceric aciduria
Primary hyperoxaluria (PH) type 2 is a rare disorder of glyoxylate metabolism caused by the deficiency of the enzyme glyoxylate reductase/hydropyruvate reductase (GR/HPR) characterized by a childhood onset with clinical manifestations that include recurrent nephrolithiasis, nephrocalcinosis and end-stage renal disease with subsequent systemic oxalosis.
Primary hyperoxaluria type 2
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_2609 with label: Isolated complex I deficiency
Primary hyperoxaluria type 3 (PH3) is a disorder of glyoxylate metabolism that can be asymptomatic or characterized by oxalate nephrolithiasis.
Primary hyperoxaluria type 3
XDH deficiency
XO deficiency
XOR deficiency
Xanthine dehydrogenase deficiency
Xanthine oxidase deficiency
Xanthine oxidoreductase deficiency
Type I xanthinuria, a type of classical xanthinuria (see this term), is a rare autosomal recessive disorder of purine metabolism (see this term) characterized by the isolated deficiency of xanthine dehydrogenase, causing hyperxanthinemia with low or absent uric acid and xanthinuria, leading to urolithiasis, hematuria, renal colic and urinary tract infections, while some patients are asymptomatic and others suffer from kidney failure. Less common manifestations include arthropathy, myopathy and duodenal ulcer.
Xanthinuria type I
XDH and AOX dual deficiency
Xanthine dehydrogenase and xanthine aldehyde oxidase dual deficiency
Type II xanthinuria, a type of classical xanthinuria (see this term), is a rare autosomal recessive disorder of purine metabolism (see this term) characterized by the deficiency of both xanthine dehydrogenase and aldehyde oxidase, leading to the formation of urinary xanthine urolithiasis and leading, in some patients, to kidney failure. Other less common manifestations include arthropathy, myopathy and duodenal ulcer, while some patients remain asymptomatic.
Xanthinuria type II
Rare renal tubular disease
Bartter syndrome, furosemide type
Bartter syndrome, furosemide-amiloride type
Hyperprostaglandin E syndrome
Antenatal Bartter syndrome is a phenotypic variant of Bartter syndrome (see this term) presenting antenatally with maternal polyhydramnios, pre-term delivery and postnatally with polyuria, and nephrocalcinosis. Hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II are characteristically associated. Genotypically they comprise Type 1 and Type 2 Bartter syndrome
Antenatal Bartter syndrome
Adult Bartter syndrome
Bartter syndrome type 3
Bartter syndrome type III
Classic Bartter syndrome is a type of Bartter syndrome (see this term), characterized by a milder clinical picture than the antenatal/infantile subtype, and presenting with failure to thrive, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II.
Classic Bartter syndrome
NSIAD
Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a rare genetic disorder of water balance, closely resembling the far more frequent syndrome of inappropriate antidiuretic secretion (SIAD), and characterized by euvolemic hypotonic hyponatremia due to impaired free water excretion and undetectable or low plasma arginine vasopressin (AVP) levels.
Nephrogenic syndrome of inappropriate antidiuresis
AR pRTA
Proximal renal tubular acidosis with ocular abnormalities and intellectual disability
Autosomal recessive proximal renal tubular acidosis (AR pRTA) is a rare form of proximal renal tubular acidosis (pRTA; see this term) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequentially to urinary bicarbonate wastage along with additional characteristic clinical features.
Autosomal recessive proximal renal tubular acidosis
AD dRTA
Autosomal dominant distal renal tubular acidosis (AD dRTA) is an inherited form of distal renal tubular acidosis (dRTA; see this term) characterized by hyperchloremic metabolic acidosis often but not always associated with hypokalemia.
Autosomal dominant distal renal tubular acidosis
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_402041 with label: Autosomal recessive distal renal tubular acidosis
Autosomal recessive distal renal tubular acidosis without deafness
dRTA with anemia
Distal renal tubular acidosis (dRTA) with anemia is a very rare form of distal renal tubular acidosis (dRTA; see this term) characterized by a defect in renal acidification and hereditary hemolytic anemia.
Distal renal tubular acidosis with anemia
Autosomal recessive distal renal tubular acidosis with deafness
Cystinuria type A
Cystinuria type B
Hematological disorder with renal involvement
Alpha-thalassemia intermedia
HbH disease
Hemoglobin H (HbH) disease is a moderate to severe form of alpha-thalassemia (see this term) characterized by pronounced microcytic hypochromic hemolytic anemia.
Hemoglobin H disease
Rare cause of hypertension
Rare renal tumor
Nephrolithiasis type 1
Dent disease type 1 is a type of Dent disease with predominantly renal manifestations.
Dent disease type 1
Nephrolithiasis type 2
Dent disease type 2 is a type of Dent disease in which patients have the manifestations of Dent disease type 1 associated with extra-renal features.
Dent disease type 2
Rare renal disease
Autoinflammatory syndrome
OBSOLETE: Adult chronic recurrent multifocal osteomyelitis
Juvenile DM
Juvenile dermatomyositis (JDM) is the early-onset form of dermatomyositis (DM, see this term), a systemic, autoimmune inflammatory muscle disorder, characterized by proximal muscle weakness, evocative skin lesion, and systemic manifestations.
Juvenile dermatomyositis
Pediatric Castleman disease (PCD) is a form of Castleman disease (CD, see this term) with a predominant occurrence in teenagers which is either asymptomatic or manifest by systemic (such as fever, anemia, fatigue and failure to thrive) or compressive symptoms.
Pediatric Castleman disease
Localized Castleman disease (LCD) is the most common form of Castleman disease (CD; see this term) and it is usually asymptomatic or it may present with enlarged lymph nodes. LCD may be cured by surgical resection.
Localized Castleman disease
Multicentric giant lymph node hyperplasia
Multicentric castleman disease (MCD) is an aggressive form of Castleman disease (see this term) that mostly results from human herpesvirus 8 (HHV8) infection. It manifests by fever, diffuse lymphadenopathy, hepatosplenomegaly, Involvement of the respiratory system and increased C-reactive protein.
Multicentric Castleman disease
use http://www.orpha.net/ORDO/Orphanet_29207 with label: Reactive arthritis
OBSOLETE: Non-idiopathic juvenile arthritis
Malformation syndrome
Rare developmental defect during embryogenesis
3 hydroxyisobutyric aciduria is characterised by ketoacidotic episodes, cerebral anomalies and facial dysmorphism. It is an organic aciduria that involves valine metabolism. Thirteen cases have been described in the literature so far. Transmission is thought to be autosomal recessive.
3-hydroxyisobutyric aciduria
NF3
Neurilemmomatosis
Schwannomatosis
Neurofibromatosis (NF) type 3 (NF3), also known as schwannomatosis, is the least frequent form of the rare genetic disorder neurofibromatosis. It is clinically and genetically distinct from NF1 and NF2 and is characterized by the development of multiple schwannomas (nerve sheath tumors), without involvement of the vestibular nerves. NF3 develops in adulthood and is often associated with chronic pain. Dysesthesia and paresthesia may also be present. Common localizations include the spine, peripheral nerves, and the cranium.
Neurofibromatosis type 3
Lobar holoprosencephaly is the mildest classical form of holoprosencephaly (HPE; see this term) characterized by separation of the right and left cerebral hemispheres and lateral ventricules with some continuity across the frontal neocortex, especially rostrally and ventrally.
Lobar holoprosencephaly
Alobar holoprosencephaly is the most severe classical form of holoprosencephaly (HPE; see this term) characterized by a single brain ventricle and no interhemispheric fissure.
Alobar holoprosencephaly
MIH
MIH type HPE
MIHF
MIHV
Middle interhemispheric fusion variant
Middle interhemispheric variant of holoprosencephaly
Syntelencephaly
Midline interhemispheric variant of holoprosencephaly (MIH) or syntelencephaly is a form of holoprosencephaly (HPE; see this term) characterized by non-separation of the posterior frontal and parietal lobes, normally-formed callosal genu and splenium, absence of the callosal body, normally-separated hypothalamus and lentiform nucleus, and frequent heterotopic gray matter.
Midline interhemispheric variant of holoprosencephaly
Epispadias is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC; see this term) and is characterized in males by an ectopic meatus or a mucosal strip in place of the urethra on the penile dorsum and in females by bifid clitoris and a variable cleft of the urethra.
Epispadias
OEIS complex
Omphalocele-cloacal exstrophy-imperforate anus-spinal defect syndrome
Cloacal exstrophy (EC) is a major birth defect representing the severe end of the spectrum of the exstrophy-epispadias complex (EEC; see this term) characterized by omphalocele, exstrophy, imperforate anus and spinal defects (also referred to as the OEIS complex), often associated with other malformations.
Cloacal exstrophy
Classic exstrophy of the bladder
Bladder exstrophy (or classic bladder exstrophy; CEB) is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC; see this term) and is characterized by an evaginated bladder plate, epispadias and an anterior defect of the pelvis, pelvic floor and abdominal wall.
Bladder exstrophy
Opitz-Kaveggia syndrome
FG syndrome type 1
OBSOLETE: Terminal transverse defects of arm
LTEC I
LTEC1
Laryngo-tracheo-esophageal cleft type 1
Laryngo-tracheo-esophageal cleft (LC) type 1 is a congenital respiratory tract anomaly characterized by a supraglottic, interarytenoid cleft above the vocal folds with moderate respiratory symptoms.
Laryngotracheoesophageal cleft type 1
LTEC II
LTEC2
Laryngo-tracheo-esophageal cleft type 2
Laryngo-tracheo-esophageal cleft (LC) type 2 is a congenital respiratory tract anomaly characterized by a cleft extending below the vocal folds into the cricoid cartilage, with swallowing disorders and lung infections.
Laryngotracheoesophageal cleft type 2
LTEC III
LTEC3
Laryngo-tracheo-esophageal cleft type 3
Laryngo-tracheo-esophageal cleft (LC) type 3 is a congenital respiratory tract anomaly characterized by a cleft extending through the cricoid cartilage, sometimes into the cervical trachea, with severe swallowing disorders, lung infections and pulmonary damage.
Laryngotracheoesophageal cleft type 3
LTEC IV
LTEC4
Laryngo-tracheo-esophageal cleft type 4
Laryngo-tracheo-esophageal cleft (LC) type 4 is a serious congenital respiratory tract anomaly characterized by a cleft extending into the thoracic trachea and possibly down to the carina, with respiratory distress.
Laryngotracheoesophageal cleft type 4
Superior celosomia
Corpus callosum dysgenesis-hypopituitarism syndrome
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_93950 with label: X-linked intellectual disability, Sutherland-Haan type
X-linked intellectual disability, Fichera type
X-linked intellectual disability, Porteous type
Hamel cerebro-palato-cardiac syndrome is an X-linked intellectual disability syndrome (XLMR; see this term) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome (see this term).
Hamel cerebro-palato-cardiac syndrome
Golabi-Ito-Hall syndrome is an X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome.
X-linked intellectual disability, Golabi-Ito-Hall type
X-linked intellectual disability, Sutherland-Haan type
X-linked dominant intellectual disability-epilepsy syndrome
MRXSH
X-linked intellectual disability, Hedera type is a rare X-linked intellectual disability syndrome characterized by an onset in infancy of delayed motor and speech milestones, generalized tonic-clonic seizures and drop attacks, and mild to moderate intellectual disability. Additional, less common manifestations include scoliosis, ataxia (resulting in progressive gait disturbance), and bilateral pes planovalgus. Physical appearance is normal with no dysmorphic features reported.
X-linked intellectual disability, Hedera type
Familial thyroglossal duct cyst (TDC) is a very rare inherited form of TDC characterized by a mass measuring 3 cm in diameter or less in the midline area of the neck.
Familial thyroglossal duct cyst
OBSOLETE: Benign essential blepharospasm
use http://www.orpha.net/ORDO/Orphanet_1866 with label: Focal, segmental or multifocal dystonia
Oromandibular dystonia (OMD) is a form of focal dystonia (see this term), affecting the lower part of the face and jaws. It is characterized by sustained or repetitive involuntary jaw and tongue movements and facial grimacing caused by involuntary spasms of the masticatory, facial, pharyngeal, lingual, and lip muscles.
Oromandibular dystonia
OBSOLETE: Autosomal dominant focal dystonia, DYT7 type
Meige dystonia
Meige syndrome
Blepharospasm-oromandibular dystonia, also called Meige dystonia or Meige syndrome is a focal dystonia (see this term) involving symmetrical benign essential blepharospasm (BEB) and oromandibular dystonia (see these terms).
Blepharospasm-oromandibular dystonia syndrome
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_823 with label: Isolated spina bifida
Myelomeningocele
Holmes-Gang syndrome is an X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies; see this term).
Holmes-Gang syndrome
Chudley-Lowry syndrome
Chudley-Lowry syndrome is an X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation-hypotonic facies; see this term).
Chudley-Lowry-Hoar syndrome
Juberg-Marsidi syndrome is an X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies; see this term).
Juberg-Marsidi syndrome
Carpenter-Waziri syndrome is an X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies; see this term).
Carpenter-Waziri syndrome
Smith-Fineman-Myers syndrome (SFMS) is an X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies; see this term).
Smith-Fineman-Myers syndrome
Renier-Gabreels-Jasper syndrome is an X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies; see this term).
Renier-Gabreels-Jasper syndrome
Anotia is a congenital malformation of the external ear and the most extreme form of microtia (see this term) characterized by the complete absence of the external ear and auditory canal, conductive hearing loss, attention deficit disorders and delayed language development.
Anotia
Astrocytic tumor
Astrocytomas represent a complex group of benign and malignant cerebral tumors arising at any age.
Astrocytoma
Humero-ulnar fusion
Humero-ulnar synostosis
Neovascular glaucoma is the most common type of secondary glaucoma, usually caused by diabetic retinopathy, central retinal vein occlusion and carotid artery obstruction but sometimes by trauma, uvietis or ocular tumors, and characterized by severe eye pain, synechial angle glaucoma, high intraocular pressure and leading to loss of vision.
Neovascular glaucoma
use http://www.orpha.net/ORDO/Orphanet_101997 with label: Primary immunodeficiency
OBSOLETE: Macrocephaly-immune deficiency-anemia syndrome
Del(12)(q14)
Deletion 12q14
Monosomy 12q14
Osteopoikilosis-short stature-intellectual disability syndrome
gene: mutations in this gene have already been implicated in osteopoikilosis.
12q14 microdeletion syndrome
DIS
Deafness-infertility syndrome (DIS) is a very rare syndrome associating sensorineural deafness and male infertility.
Deafness-infertility syndrome
Del(15)(q24)
Monosomy 15q24
15q24 microdeletion syndrome is a rare chromosomal anomaly characterized cytogenetically by a 1.7-6.1 Mb deletion in chromosome 15q24 and clinically by pre- and post-natal growth retardation, intellectual disability, distinct facial features, and genital, skeletal, and digital anomalies.
15q24 microdeletion syndrome
Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia is characterised by severe intellectual deficit, epilepsy, hypoplasia of the terminal phalanges, and an anteriorly displaced anus. It has been described in two sisters born to consanguineous parents. The syndrome is transmitted as an autosomal recessive trait and appears to be caused by anomalies in to chromosome regions, one localised to chromosome 1 and the other to chromosome 14.
Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia
Congenital spondyloepiphyseal dysplasia
SEDC
Spranger-Wiedemann disease
Spondyloepiphyseal dysplasia congenita (SEDC) is a chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies.
Spondyloepiphyseal dysplasia congenita
Autoimmune enteropathy
Immune-mediated protracted diarrhea of infancy
Severe-immune mediated enteropathy describes a variety of intestinal disorders that can range from a serious, early-onset systemic disease (IPEX; see this term) to a mild isolated gastrointestinal disease. In children it manifests with severe diarrhea and dehydration in the presence of characteristic antibodies (anti-enterocyte and anti-goblet cell) and in adults with chronic diarrhea, malabsorption and weight loss.
Severe immune-mediated enteropathy
Non-secreting paraganglioma
Non-functioning paraganglioma is a rare neuroendocrine tumor arising from neural crest-derived paraganglion cells (most often in the para-aortic region at the level of renal hilia, organ of Zuckerkandl, thoracic paraspinal region, bladder, and carotid body) not associated with catecholamine secretion. These tumors are usually clinically silent and symptoms, if present, are nonspecific and depend on the location of the tumor. Association with certain hereditary cancer-predisposing syndromes, such as multiple endocrine neoplasia, neurofibromatosis type 1 or von Hippel lindau syndrome, may be observed.
Non-functioning paraganglioma
Partington-Mulley syndrome
X-linked intellectual disability-dystonia-dysarthria syndrome
) gene (Xp22.13). Transmission is X-linked recessive.
Partington syndrome
Drummond syndrome
Familial hypercalcemia-nephrocalcinosis-indicanuria syndrome
Blue Diaper syndrome is a hereditary metabolic disorder characterised by hypercalcaemia with nephrocalcinosis and indicanuria.
Blue diaper syndrome
CHP
Winkelmann cytophagic panniculitis
Cytophagic histiocytic panniculitis (CHP) is a very rare form of panniculitis manifesting as recurrent multiple subcutaneous nodules (which may progressively become ecchymotic and ulcerated), and histologically characterized by lobular panniculitis with lymphocytic and histiocytic infiltration in the subcutaneous adipose tissue.
Cytophagic histiocytic panniculitis
Hereditary renal hypouricemia (HRH) is a rare autosomal recessively inherited renal membrane transport disorder affecting urate reabsorption in the proximal tubules leading to usually asymptomatic hypouricemia and predisposing to urolithiasis and exercise induced acute renal failure (EIARF).
Hereditary renal hypouricemia
Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance.
Pseudohypoparathyroidism type 1B
Pseudohypoparathyroidism type 2 (PHP2) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH), which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, absence of Albright's hereditary osteodystrophy (AHO; see this term), and normal expression of the Gs protein with a normal urinary cAMP response.
Pseudohypoparathyroidism type 2
Neuroleptic malignant syndrome (NMS) is an idiosyncratic condition associated with administration of antipsychotic and other central dopaminergic blockers, and characterized by hyperthermia, muscular rigidity, autonomic dysfunction and altered consciousness.
Neuroleptic malignant syndrome
Casamassima-Morton-Nance syndrome
Spondylocostal dysostosis-anal and genitourinary malformations syndrome is characterised by the association of spondylocostal dysostosis with anal and genitourinary malformations (anal atresia and agenesis of external and internal genitalia). To date, only four cases have been described in the literature. Autosomal recessive inheritance has been suggested.
Spondylocostal dysostosis-anal atresia-genitourinary malformation syndrome
D-glycerate kinase deficiency
D-glyceric acidemia
gene has been mapped to 3p21.
D-glyceric aciduria
Cerebellar ataxia, Cayman type is characterised by psychomotor retardation, hypotonia and cerebellar dysfunction (nystagmus, ataxic gait, truncal ataxia, dysarthric speech and intention tremor), associated with cerebellar hypoplasia.
Cerebellar ataxia, Cayman type
Spinocerebellar ataxia with axonal neuropathy type 1 is a rare, genetic neurological disorder characterized by a late childhood onset of slowly progressive cerebellar ataxia. Initial manifestations include weakness and atrophy of distal limb muscles, areflexia and loss of pain, vibration and touch sensations in upper and lower extremities. Gaze nystagmus, cerebellar dysarthria, peripheral neuropathy, stepagge gait and pes cavus develop as disease progresses. Cerebellar atrophy (especially of the vermis) is present in all affected individuals. Additional reported manifestations include seizures, mild brain atrophy, mild hypercholesterolemia and borderline hypoalbuminemia.
Spinocerebellar ataxia with axonal neuropathy type 1
MIRAS
Recessive mitochondrial ataxia syndrome is a rare, mitochondrial DNA maintenance syndrome characterized by early-onset cerebellar ataxia, and variable combination of epilepsy, headache, dysarthria, ophthalmoplegia, peripheral neuropathy, intellectual disability, psychiatric symptoms and movement disorders.
Recessive mitochondrial ataxia syndrome
ADCA1
ADCAI
Autosomal dominant cerebellar ataxia type 1
Cerebellar plus syndrome
Autosomal dominant cerebellar ataxia (ADCA) type I is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement.
Autosomal dominant cerebellar ataxia type I
Ataxia with pigmentary retinopathy
Cerebellar syndrome-pigmentary maculopathy syndrome
SCA7
Spinocerebellar ataxia type 7 (SCA7), currently the only known form of autosomal dominant cerebellar ataxia type 2 (ADCA2; see this term), is a neurodegenerative disorder characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness.
Spinocerebellar ataxia type 7
ADCA3
ADCAIII
Autosomal dominant cerebellar ataxia type 3
Pure cerebellar syndrome-mild pyramidal signs syndrome
Autosomal dominant cerebellar ataxia (ACDA; see this term) type III is a group of neurodegenerative disorders characterized by mostly pure cerebellar syndromes with occasional non-cerebellar signs (e.g. pyramidal signs, peripheral neuropathy, writer's cramp) and includes spinocerebellar ataxia (SCA) type 5 (SCA5), SCA6, SCA11, SCA26, SCA30, and SCA31 (see these terms).
Autosomal dominant cerebellar ataxia type III
ADCA4
ADCAIV
Autosomal dominant cerebellar ataxia type 4
Autosomal dominant cerebellar ataxia type IV
Anonychia congenita totalis
Malonyl-CoA decarboxylase deficiency
Malonic aciduria is a metabolic disorder caused by deficiency of malonyl-CoA decarboxylase (MCD).
Malonic aciduria
Primary acalvaria
holoprosencephaly or gyration anomalies). Skull base and facial bones are normal.
Acalvaria
Acrocephalosyndactylia
Acrocephalosyndactyly (ACS) syndromes represent a group of inherited congenital malformation disorders characterized by craniosynostosis and fusion or webbing of the fingers or toes, often with other associated manifestations.
Acrocephalosyndactyly
Kaplan-Plauchu-Fitch syndrome
Acrocraniofacialdysostosis is a very rare form of acrofacialdyosotosis, reported in two sisters to date, characterized by short stature, acrocephaly, ocular hypertelorism, ptosis of eyelids, ocular proptosis, downslanting palpebral fissures, high nasal bridge, anteverted nostrils, short philtrum, cleft palate, micrognathia, abnormal external ears, preauricular pits, mixed hearing loss, bulbous digits, metatarsus varus, pectus excavatum and various radiological abnormalities. Features of this syndrome were reported to overlap with otopalatodigital syndrome types 1 and 2. There have been no further descriptions in the literature since 1988.
Acrocraniofacial dysostosis
FRDA
Friedreich ataxia (FRDA) is an inherited neurodegenerative disorder classically characterized by progressive gait and limb ataxia, dysarthria, dysphagia, oculomotor dysfunction, loss of deep tendon reflexes, pyramidal tract signs, scoliosis, and in some, cardiomyopathy, diabetes mellitus, visual loss and defective hearing.
Friedreich ataxia
Acrodysplasia
Arkless-Graham syndrome
Maroteaux-Malamut syndrome
Acrodysostosis (ACRDYS) is a rare primary bone dysplasia characterized by severe brachydactyly, peripheral dysostosis with facial dysostosis, nasal hypoplasia, and developmental delay.
Acrodysostosis
Acute hepatic porphyrias represent a sub-group of porphyrias (see this term) characterized by the occurrence of neuro-visceral attacks with or without cutaneous manifestations. Acute hepatic porphyrias encompass four diseases: acute intermittent porphyria (the most common), variagate porphyria, hereditary coproporphyria, and hereditary deficit of delta-aminolevulinic acid dehydratase (extremely rare) (see these terms).
Acute hepatic porphyria
HEP
Hepatoerythropioetic porphyria (HEP) is a very rare form of chronic hepatic porphyria (see this term) characterized by bullous photodermatitis.
Hepatoerythropoietic porphyria
Chronic hepatic porphyrias represent a sub-group of porphyrias (see this term). They are characterized by bullous photodermatitis caused by a deficiency of uroporphyrinogen decarboxylase (URO-D; the fifth enzyme in the heme biosynthesis pathway). Chronic hepatic porphyria encompasses two diseases: porphyria cutanea tarda and hepatoerythropoietic porphyria (extremely rare) (see these terms).
Chronic hepatic porphyria
Curry-Hall syndrome
Weyers acrodental dysostosis
Weyers acrofacial dysostosis
Acrofacialdysostosis, Weyers type (WAD) is a rare ectodermal dysplasia syndrome with bone abnormalities characterized by onychodystrophy; anomalies of the lower jaw, oral vestibule and dentition; post-axialpolydactyly; moderately restricted growth with short limbs; and normal intelligence. Although it closely resembles Ellis-van Creveld syndrome (see this term), an allelic disorder and another type of ciliopathy, WAD is usually a milder disease without the presence of heart abnormalities and is inherited in an autosomal dominant manner.
Acrofacial dysostosis, Weyers type
PAFAH1B1-related lissencephaly
Lissencephaly due to LIS1 mutation is a cerebral malformation with epilepsy characterized predominantly by posterior isolated lissencephaly with developmental delay, intellectual disability and epilepsy that usually evolves from West syndrome to Lennox-Gastaut syndrome. Additional features include muscular hypotonia, acquired microcephaly, failure to thrive and poor control of airways leading to aspiration pneumonia.
Lissencephaly due to LIS1 mutation
use http://www.orpha.net/ORDO/Orphanet_40 with label: Acromesomelic dysplasia, Maroteaux type
OBSOLETE: Acromesomelic dysplasia, Brahimi-Bacha type
Acute adrenal failure
Acute adrenocortical insufficiency
Addisonian crisis
Adrenal crisis
Adrenocortical crisis
Acute adrenal insufficiency (AAI) is a rare but severe condition caused by a sudden defective production of adrenal steroids (cortisol and aldosterone). It represents an emergency, thus the rapid recognition and prompt therapy are critical for survival even before the diagnosis is made.
Acute adrenal insufficiency
Secondary short bowel syndrome is an intestinal failure caused by any condition that results in a functional small intestine of less than 200 cm in length and is characterized by diarrhea, nutrient malabsoption, bowel dilation and dysmobility.
Secondary short bowel syndrome
CDG syndrome type IIh
CDG-IIh
CDG2H
Carbohydrate deficient glycoprotein syndrome type IIh
Congenital disorder of glycosylation type 2h
Congenital disorder of glycosylation type IIh
The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type IIh is characterised by severe psychomotor retardation, failure to thrive and intolerance to wheat and dairy products.
COG8-CDG
Angioma serpiginosum (AS) is a benign congenital skin disease characterised by progressive dilation of the subepidermal skin vessels manifesting as purple punctate lesions usually appearing on the lower limbs and buttocks and following the lines of Blaschko.
Angioma serpiginosum
Congenital major airway collapse
Congenital tracheomalacia is a rare condition where the trachea is soft and flexible causing the tracheal wall to collapse when exhaling, coughing or crying, that usually presents in infancy, and that is characterized by stridor and noisy breathing or upper respiratory infections. Tracheomalacia improves by the age of 18-24 months.
Congenital tracheomalacia
Feto-fetal transfusion syndrome
Twin twin transfusion syndrome (TTTS) is a rare condition seen in twin monochorionic pregnancies, typically developing during the 15-26 week gestation period and usually due to unbalanced intertwin placental anastomoses, where an unequal exchange of blood between twins causes oligohydramnios in one sac and polyhydramnios in the other which can lead to a high perinatal mortality rate and a high rate of disability in survivors if left untreated
Twin to twin transfusion syndrome
Mesulam syndrome
PPA
Primary progressive aphasia (PPA) is a neurodegenerative disorder, characterized by a primary dissolution of language, with relative sparing of other mental faculties for at least the first 2 years of illness. PPA is recognized as the language variant in the frontotemporal dementia (FTD; see this term) spectrum of disorders. PPA can be classified into 3 subtypes based on specific speech and language features: semantic dementia (SD), progressive non-fluent aphasia (PNFA) and logopenic progressive aphasia (lv-PPA) (see these terms).
Primary progressive aphasia
Autosomal recessive spinocerebellar ataxia type 3
Autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome
SCABD
SCAR3
Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome
SCAR4
SCASI
Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome is a rare hereditary ataxia characterized by a progressive cerebellar ataxia associated with disruption of visual fixation by saccadic intrusions (overshooting horizontal saccades with macrosaccadic oscillations and increased velocity of larger saccades). It presents with progressive gait, trunk and limb ataxia with pyramidal tract signs (increased tendon reflexes and Babinski sign), myoclonic jerks, fasciculations, cerebellar dysarthria, sensorimotor axonal neuropathy with impaired joint position, vibration, temperature, pain sensations, pes cavus, and saccadic intrusions with characteristic overshooting horizontal saccades, macrosaccadic oscillations, and increased velocity of larger saccades, without other eye movement disturbances.
Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome
Midline heart
Mesocardia
Aortic valve atresia
Congenital aortic valve insufficiency
SJS-TEN
Toxic epidermolysis
Toxic epidermal necrolysis (TEN) is an acute and severe skin disease with clinical and histological features characterized by the destruction and detachment of the skin epithelium and mucous membranes.
Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum
Congenital unguarded tricuspid orifice
Tricuspid valve agenesis
Tricuspid valve prolapse
Congenital tricuspid stenosis
Straddling or overriding tricuspid valve is a rare, congenital, tricuspid valve malformation characterized by the tricuspid valve that overrides the ventricular septum and communicates with both ventricles, as part of the tension apparatus of the valve crosses the ventricular septal defect and is attached in the left ventricle. The anomaly occurs with other congenital heart defects (transposition of great vessels, left ventricle outflow tract obstruction, double outlet right ventricle, hypoplastic right ventricle), which determine the main clinical manifestation.
Straddling or overriding tricuspid valve
Accessory tricuspid valve tissue is a rare, congenital, atrioventricular valve malformation characterized by fixed or mobile accessory tissue on the tricuspid valve, usually associated with other complex congenital heart anomalies (atrial septal defect, ventricular septal defect, transposition of great arteries, tetralogy Fallot). It may present clinically with systolic murmur, dyspnea, cyanosis, depending also on accompanying congenital heart anomaly.
Accessory tricuspid valve tissue
Anomaly of the tricuspid subvalvular apparatus
Congenital mitral valve insufficiency and/or stenosis
Cleft mitral valve
Double-orifice mitral valve
Univentricular cardiopathy
Aneurysm or dilatation of ascending aorta
Patent ductus arteriosus anomalies
Arterial duct anomaly
Premature closure of the patent ductus arteriosus
Premature closure of the arterial duct is a rare arterial duct anomaly, defined as a significant constriction or closure of the fetal arterial duct in the absence of structural heart defects with pathognomonic features of increased right ventricular afterload, tricuspid regurgitation and, consequently, right atrial dilation and right ventricular hypertrophy. The severity of symptoms is related to the degree and rate of ductal constriction and ranges from mild postnatal respiratory distress to development of ventricular failure with fetal hydrops and intrauterine death or severe cardiopulmonary compromise in the postnatal period. It may be associated with a prenatal exposure to cyclooxygenase inhibitors or corticosteroids.
Premature closure of the arterial duct
Non-acquired pituitary hormone deficiency
Congenital coronary aneurysm
Congenital coronary artery aneurysm is a rare congenital coronary artery malformation defined as a more than 1.5 fold the normal size dilatation of a coronary artery segment with no identified underlying inflammatory or connective tissue disease. It may be asymptomatic or may present with angina pectoris, myocardial infarction, sudden cardiac death, fistula formation, pericardial tamponade, compression of surrounding structures, or congestive heart failure.
Congenital coronary artery aneurysm
Abnormal origin or aberrant course of coronary artery
Familial congenital hypopituitarism
Multiple pituitary hormone deficiencies, genetic forms
Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. Congenital hypopituitarism is rare compared with the high incidence of hypopituitarism induced by pituitary adenomas, transsphenoidal surgery or radiotherapy.
Combined pituitary hormone deficiencies, genetic forms
Disease associated with non-acquired combined pituitary hormone deficiency
Ectopic neurohypophysis
PSIS
Pituitary stalk interruption syndrome (PSIS) is a congenital abnormality of the pituitary that is responsible for pituitary deficiency and is usually characterized by the triad of a very thin or interrupted pituitary stalk, an ectopic (or absent) posterior pituitary (EPP) and hypoplasia or aplasia of the anterior pituitary visible on MRI. In some patients the abnormality may be limited to EPP (also called ectopic neurohypophysis) or to an interrupted pituitary stalk.
Pituitary stalk interruption syndrome
Congenital anomaly of superior caval vein
Congenital anomaly of the SVC
Congenital anomaly of superior vena cava
Congenital anomaly of the IVC
Congenital anomaly of the inferior caval vein
Congenital anomaly of the inferior vena cava
Acrodentoosteodysplasia
Acroosteolysis with osteoporosis and changes in skull and mandible
Arthrodentoosteodysplasia
Cheney syndrome
Hajdu-Cheney syndrome
Acroosteolysis dominant type (AOD) is a rare genetic osteolysis syndrome characterized by acroosteolysis of distal phalanges and generalized osteoporosis, associated with additional ossification anomalies, craniofacial dysmorphism, dental anomalies and a wide range of other characteristics.
Acroosteolysis dominant type
Congenital anomaly of the coronary sinus
Acquired pituitary hormone deficiency
Pituitary hormone deficiency from tumoral origin
Pituitary hormone deficiency from meningeal origin
Autoimmune hypophysitis
Primary hypophysitis
Congenital anomaly of hepatic vein
Atrial auricle anomaly
Atrial appendage anomaly
Anterior pituitary hypophysitis
Adenohypophysitis is a rare, acquired pituitary hormone deficiency, a type of primary hypophysitis characterized by an inflammation of anterior pituitary. Clinical presentation is variable and includes headaches, visual disturbances, symptoms of adrenal insufficiency, hyperprolactinemia, hypothyroidism and hypogonadism. It most commonly affects young women during pregnancy or postpartum period.
Adenohypophysitis
Infundibulo-panhypophysitis
Panhypophysitis is a rare, acquired pituitary hormone deficiency, a type of primary hypophysitis characterized by an inflammation of the entire pituitary gland. Common clinical presentation is diabetes insipidus with polyuria and polydipsia and partial or panhypopituitarism. Other symptoms may include headaches, nausea/vomiting, visual disturbances and fatigue.
Panhypophysitis
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_2911 with label: Poland syndrome
Pituitary hormone defiency from vascular origin
Pituitary apoplexy
Pituitary hormone deficiency secondary to a granulomatous disease
Pituitary hormone deficiency secondary to storage disease
Iatrogenic or traumatic pituitary deficiency is a rare, acquired, endocrine disorder characterized by deficiency of one or more of the pituitary hormones resulting as a consequence of traumatic or medically-induced injury of the pituitary gland. Clinical presentation is variable depending on the nature and acuity of the injury and the resulting order and amount of hormone deficiency.
Iatrogenic or traumatic pituitary deficiency
Acquired CDI
Acquired neurogenic diabetes insipidus
Acquired central diabetes insipidus (acquired CDI) is a subtype of central diabetes insipidus (CDI, see this term), characterized by polyuria and polydipsia, due to an idiopathic or secondary decrease in vasopressin (AVP) production.
Acquired central diabetes insipidus
Congenital adrenal hyperplasia due to cytochrome POR deficiency
POR deficiency
PORD
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations.
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
F syndrome
Acropectorovertebral dysplasia is a skeletal dysplasia characterized by fusion of the carpal and tarsal bones, with complex anomalies of the fingers and toes (preaxial polydactyly of the hands and/or feet, syndactyly of fingers and toes, hypoplasia and dysgenesis of metatarsal bones).
Acropectorovertebral dysplasia
Familial adrenal hypoplasia with absent pituitary LH
Familial adrenal hypoplasia, miniature type
Familial adrenal hypoplasia with absent pituitary luteinizing hormone is a rare endocrine disease characterized by a miniature adult type of congenital adrenal hypoplasia (residual adrenal cortex is composed of a small amount of permanent adult cortex with normal structural organization), selective absence of pituitary luteinizing hormone in otherwise normal brain, and neonatal demise. Patients present with hypogonadotropic hypogonadism, hypoglycemia, seizures, encephalopathy and diabetes insipidus. There have been no further descriptions in the literature since 1988.
Familial adrenal hypoplasia with absent pituitary luteinizing hormone
use http://www.orpha.net/ORDO/Orphanet_101963 with label: Acquired chronic primary adrenal insufficiency
OBSOLETE: Congenital adrenal hypoplasia of maternal cause
X-linked congenital adrenal hypoplasia
Cytomegalic congenital adrenal hypoplasia
Perineal, scrotal or penoscrotal hypospadias
Posterior hypospadias is a rare, non-syndromic, urogenital tract malformation characterized by an ectopic urethral meatus opening located in the posterior penis, the penoscrotal junction, the scrotum or the perineum, which often appears stenotic. The scrotum might appear bifid in severe cases and micropenis is not commonly associated. Urinary tract malformations, such as ureteropelvic junction obstruction, vesicoureteric reflux, pelvic or horseshoe kidney, crossed renal ectopia, renal agenesis, may be observed.
Posterior hypospadias
Isolated micropenis
Precocious puberty
Acquired premature ovarian failure
Non-acquired premature ovarian failure
Primary congenital hypothyroidism due to developmental anomaly
Thyroid dysgenesis is a type of primary congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth.
Congenital hypothyroidism due to developmental anomaly
Thyroid ectopia is a form of thyroid dysgenesis (see this term) characterized by an ectopic location of the thyroid gland that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth.
Thyroid ectopia
Athyreosis is a form of thyroid dysgenesis (see this term) characterized by complete absence of thyroid tissue that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth.
Athyreosis
Primary congenital hypothyroidism without thyroid developmental anomaly is a type of primary congenital hypothyroidism (see this term) in which the thyroid gland is anatomically normal.
Primary congenital hypothyroidism without thyroid developmental anomaly
Congenital hypothyroidism due to transplacental passage of maternal thyroid-stimulating hormone (TSH)-binding inhibitory antibodies is a type of transient congenital hypothyroidism (see this term), a thyroid hormone deficiency that is not permanent.
Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies
Thyroid dyshormonogenesis
Familial thyroid dyshormonogenesis is a type of primary congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis.
Familial thyroid dyshormonogenesis
Idiopathic congenital hypothyroidism is a type of primary congenital hypothyroidism (see this term) whose cause and prevalence are unknown.
Idiopathic congenital hypothyroidism
Congenital thyroid malformation without hypothyroidism
Thyroid hemiagenesis is a form of thyroid dysgenesis (see this term) characterized by an absence of half of the thyroid gland that is usually asymptomatic but may result in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth.
Thyroid hemiagenesis
Thyroid hypoplasia is a form of thyroid dysgenesis (see this term) characterized by incomplete development of the thyroid gland that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth.
Thyroid hypoplasia
use http://www.orpha.net/ORDO/Orphanet_95718 with label: Congenital thyroid malformation without hypothyroidism
Split hand/split foot-mandibular hypoplasia syndrome
Acro-renal-mandibular syndrome is a very rare multiple congenital anomalies syndrome characterized by limb deficiencies and renal anomalies that include split hand-split foot malformation, renal agenesis, polycystic kidneys, uterine anomalies and severe mandibular hypoplasia. An autosomal recessive mode of inheritance has been suggested.
Acro-renal-mandibular syndrome
Levocardia-situs inversus
Levocardia
related disorders including Okihiro syndrome and Holt-Oram syndrome (see these terms). Transmission is autosomal dominant.
Acro-renal-ocular syndrome
AVED
Ataxia with isolated vitamin E deficiency
Familial isolated vitamin E deficiency
Friedreich-like ataxia
Isolated vitamin E deficiency
Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E.
Ataxia with vitamin E deficiency
Isochromosome 21
Tetrasomy 21 is an extremely rare autosomal anomaly resulting from the presence of 4 copies of chromosome 21, characterized by features of trisomy 21 including developmental delay/intellectual disability, muscular hypotonia, short neck with redundant skin, brachycephaly, microcephaly, flat face, epicanthus, upslanted palpebral fissures, small ears, protruding tongue, single transverse palmar crease, brachydactyly, hypoplastic iliac wings, together with additional features such as prematurity, intrauterine growth retardation, high and broad forehead, hypertelorism. Haematological malignancies are also associated and may occur earlier than in trisomy 21.
Tetrasomy 21
Mosaic trisomy chromosome 4
Trisomy 4 mosaicism
Mosaic Trisomy 4 is a rare autosomal anomaly, due to the presence of an extra copy of chromosome 4 in a fraction of all cells, with a variable phenotype characterized by intrauterine growth retardation, low birth weight/length/OFC, mild intellectual deficit, congenital heart defects, hypertrophic cardiomyopathy, dysmorphic features (asymmetry of the face, eyebrow anomalies, low-set, posteriorally rotated, dysplastic ears, micro-/retrognathia), characteristic thumb abnormalities (aplasia, hypoplasia) and skin abnormalities (hypo/hyperpigmentation). Delayed puberty may be associated.
Mosaic trisomy 4
Mosaic trisomy chromosome 5
Trisomy 5 mosaicism
Mosaic trisomy 5 is a rare chromosomal anomaly syndrome with a variable phenotype ranging from clinically normal to patients presenting intrauterine growth retardation, congenital heart anomalies (mainly ventricular septal defect), multiple dysmorphic features (e.g. hypertelorism, prominent nasal bridge) and other congenital anomalies (incl. eventration of diaphragm, agenesis of corpus callosum, cloverleaf skull, clinodactyly, anteriorly placed anus). Psychomotor development may be normal in spite of low growth parameters being associated.
Mosaic trisomy 5
Mosaic trisomy chromosome 8
Trisomy 8 mosaicism
Warkany syndrome
Mosaic trisomy 8 is a chromosomal disorder defined by the presence of three copies of chromosome 8 in some cells of the organism. It is characterized by facial dysmorphism, mild intellectual deficit and joint, urinary, cardiac and skeletal anomalies.
Mosaic trisomy 8
Mosaic trisomy chromosome 10
Trisomy 10 mosaicism
Mosaic trisomy 10 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by growth delay, craniofacial dysmorphism (incl. prominent forehead, hypertelorism, upslanting palpebral fissures, blepharophimosis, low-set malformed large ears, high arched palate, cleft lip/palate, retrognathia) and cardiac, renal and skeletal (e.g. radial ray defects, scoliosis) malformations, with death usually ocurring neonatally or in early infancy. Other reported features include central nervous system and ear anomalies, as well as facial clefts and anal atresia.
Mosaic trisomy 10
Mosaic trisomy chromosome 22
Trisomy 22 mosaicism
Mosaic trisomy 22 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by prenatal and postnatal growth delay, mild to severe intellectual disability, hemiatrophy, webbed neck, ocular and cutaneous pigmentary anomalies, craniofacial dysmorphic features (e.g. microcephaly, upslanted palpebral fissures, ptosis, ear malformations, flat nasal bridge, micrognathia) and cardiac abnormalities (including ventricular and atrial septal defect, pulmonary or aortic stenosis). Hearing loss and limb malformations (e.g. cubitus valgus, syn/brachydactyly), as well as renal and genital anomalies, have also been reported.
Mosaic trisomy 22
Distal duplication 1p36
Telomeric duplication 1p36
Trisomy 1pter
Distal trisomy 1p36 is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 1, characterized by borderline to mild intellectual disability, mild developmental delay, metopic craniosynostosis and mild craniofacial dysmorphism (incl. slopping forehead, bitemporal narrowing, blepharophimosis). Other associated abnormalities may include growth retardation, microcephaly, large hands, syndactyly, supernumerary ribs, rectal stenosis and/or anterior displacement of anus. Congenital heart malformations (e.g. atrial septal defect, patent ductus arteriosus) have also been reported.
Distal trisomy 1p36
Distal duplication 2p
Telomeric duplication 2p
Trisomy 2pter
Distal trisomy 2p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 2, with a highly variable phenotype principally characterized by pre- and post-natal growth failure, global developmental delay, facial dysmorphism (incl. high forehead/frontal bossing, abnormal ear shape and/or position, hypertelorism/telecanthus, broad/depressed nasal bridge) and ocular anomalies (e.g. exophthalmos, retinal hypopigmentation, optic nerve and foveal hypoplasia). Other reported anomalies include generalized hypotonia, pectus excavatum, long fingers and toes, syndactyly, congenital heart (e.g. ventricular and atrial septal defects) and neural tube defects, seizures, pulmonary hypoplasia, diaphragmatic hernia and urogenital anomalies.
Distal trisomy 2p
Distal duplication 3p
Telomeric duplication 3p
Trisomy 3pter
Distal trisomy 3p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 3, with highly variable phenotype principally characterized by craniofacial dysmorphism (incl. brachy-/microcephaly, square facies, frontal bossing, bitemporal indentation, hypertelorism/telecanthus, low-set and/or dysmorphic ears, short nose with broad, flat nasal bridge, prominent cheeks and philtrum, downturned corners of mouth, micrognathia/retrognathia, short neck) associated with psychomotor delay, moderate to severe intellectual disability, cardiac (e.g. patent ductus arteriosus) and urogenital (e.g. renal hypoplasia, hypogenitalism) abnormalities, as well as seizures and presence of whorls on fingers.
Distal trisomy 3p
Distal duplication 4p
Distal trisomy 4p
Telomeric duplication 4p
Trisomy 4pter
4p16.3 microduplication syndrome is a rare genetic syndrome that results from the partial duplication of the short arm of chromosome 4. It has a highly variable phenotype, principally characterized by psychomotor and language delay, seizures and dysmorphic features such as high forehead with frontal bossing, hypertelorism, prominent glabella, long narrow palpebral fissures, low set ears and short neck. Eye abnormalities (glaucoma, irregular iris pigmentation, hyperopia) have also been reported.
4p16.3 microduplication syndrome
Distal duplication 7p
Telomeric duplication 7p
Trisomy 7pter
Distal trisomy 7p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 7, with highly variable phenotype typically characterized by severe to profound psychomotor delay, intellectual disability, dysmorphic features (incl. dolichocephaly, microbrachycephaly, high and/or broad forehead, large anterior fontanel, hypertelorism, downslanting palpebral fissures, low-set, dysplastic ears, low, broad and prominent nasal bridge, abnormal palate, micro-/retrognathia), and hypotonia. Cardiovascular, gastrointestinal, skeletal and urogenital anomalies have commonly been reported.
Distal trisomy 7p
Beckwith-Wiedemann syndrome due to 11p15 microduplication
Distal duplication 16p
Distal trisomy 16p
Telomeric duplication 16p
Trisomy 16pter
16p13.3 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 and manifesting with a variable phenotype which is mostly characterized by: mild to moderate intellectual deficit and developmental delay (particularly speech), normal growth, short, proximally implanted thumbs and other hand and feet malformations (such as camptodactyly, syndactyly, club feet), mild arthrogryposis and characteristic facies (upslanting, narrow palpebral fissures, hypertelorism, mid face hypoplasia, bulbous nasal tip and low set ears). Other reported manifestations include cryptorchidism, inguinal hernia and behavioral problems.
16p13.3 microduplication syndrome
Invdupdel(8p)
Inverted 8p duplication/deletion syndrome
8p inverted duplication/deletion [invdupdel(8p)] syndrome is a rare chromosomal anomaly characterized clinically by mild to severe intellectual deficit, severe developmental delay (psychomotor and speech development), hypotonia with tendency to develop progressive hypertonia and severe orthopedic problems over time, minor facial anomalies and agenesis of the corpus callosum.
8p inverted duplication/deletion syndrome
Distal duplication 2q
Telomeric duplication 2q
Trisomy 2qter
Distal trisomy 2q is a rare chromosomal anomaly, resulting from the partial duplication of the long arm of chromosome 2, characterized by moderate psychomotor delay, mild intellectual disability, facial dysmorphism (high hairline, prominent forehead, hypertelorism, upslanting palpebral fissures, large, low-set and/or posteriorly rotated ears, depressed/broad nasal bridge, prominent nasal tip, thin upper lip vermillion), clino-/camptodactyly and normal or increased body measurements. On occasion genital anomalies (hypospadias, cryptorchidism, shawl scrotum) and short stature may be observed.
Distal trisomy 2q
Dup(3)(q26)
Trisomy 3q26
dup(3q) syndrome
3q26 microduplication syndrome is a rare chromosomal anomaly characterized by prenatal and postnatal growth retardation, developmental delay, intellectual impairment, dysmorphic signs and variable combination of congenital anomalies, including cardiovascular, genitourinary and skeletal anomalies and spectrum of caudal malformations.
3q26 microduplication syndrome
Distal duplication 4q
Telomeric duplication 4q
Trisomy 4qter
Distal trisomy 4q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 4, with highly variable phenotype typically characterized by psychomotor delay, intellectual disability, craniofacial dysmorphism (microcephaly, low-set, prominent ears, downslanting palpebral fissures, hypertelorism, epicanthic folds, broad, prominent nasal bridge, high arched and cleft palate, micro-/retrognathia), seizures, as well as tooth and digital anomalies (clinodactyly, polydactyly). Cardiac malformations, renal anomalies, cryptorchidism, hypotonia and hearing impairment have also been reported.
Distal trisomy 4q
Distal duplication 5q
Telomeric duplication 5q
Trisomy 5qter
Distal trisomy 5q is a rare chromosomal anomaly syndrome, resulting from a partial duplication of the long arm of chromosome 5, characterized by short stature, moderate intellectual disability, and craniofacial dysmorphism (microcephaly, flat facies, large, low-set dysplastic ears, down-slanted, almond-shaped palpebral fissures, hypertelorism, epicanthal folds, small nose, long philtrum, small mouth with thin upper lip, and micrognathia). Patients also frequently present speech and cognitive delay, cardiac (ventriculomegaly, ventricular septum defect) and skeletal abnormalities (craniosynostosis, radial agenesis, ulnar hypoplasia, brachydactyly) and genital malformations (hypospadias, cryptorchidism).
Distal trisomy 5q
Distal duplication 6q
Telomeric duplication 6q
Trisomy 6qter
Distal trisomy 6q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 6, with highly variable phenotype, typically characterized by growth and developmental delay, intellectual disability, craniofacial dysmorphism (microcephaly, flat facial profile, frontal bossing, hypertelorism, downward-slanting palpebral fissures, flat nasal bridge, anteverted nares, bow shaped mouth, micrognathia), short webbed neck and joint contractures. Cardiac, urogenital, ophthalmologic and hand and foot anomalies, as well as umbilical hernia, spasticity, and seizures, are other features that have been reported.
Distal trisomy 6q
Distal duplication 8q
Telomeric duplication 8q
Trisomy 8qter
Distal trisomy 8q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 8, with a highly variable phenotype, typically characterized by growth and developmental delay, intellectual disability, short stature, craniofacial dysmorphism (microcephaly, prominent forehead, hypertelorism, abnormal palpebral fissures, low-set, large ears, anteverted tip of nose, micro/retrognathia), congenital heart defects and skeletal and limb anomalies. Other reported features include ophthalmologic abnormalities (e.g. megalocornea), cryptorchidism, hypertrichosis, and neurologic manifestations (e.g. hypotonia, hearing loss, and seizures).
Distal trisomy 8q
Distal duplication 9q
Telomeric duplication 9q
Trisomy 9qter
Distal trisomy 9q is a rare chromosomal anomaly, resulting from the partial trisomy of the long arm of chromosome 9, with a variable phenotype mostly characterized by psychomotor and speech delay, intellectual disability, hypotonia, long narrow habitus, craniofacial dysmorphism (incl. micro/dolichocephaly, facial asymmetry, narrow palpebral fissures, deep-set eyes, strabismus, microphthalmia, abnormally shaped ears, microstomia, micro/retrognathia) and hand and feet anomalies (incl. arachnodactyly, camptodactyly, abnormal implantation of digits). Congenital flexion contractures and limited joint movements have also been observed.
Distal trisomy 9q
Distal duplication 10q
Telomeric duplication 10q
Trisomy 10qter
Distal trisomy of the long arm of chromosome 10 (10q) is characterized by pre- and postnatal growth retardation, a pattern of specific facial features, hypotonia, and developmental and psychomotor delay.
Distal trisomy 10q
Distal duplication 11q
Telomeric duplication 11q
Trisomy 11qter
Distal trisomy 11q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 11, with high phenotypic variability principally characterized by craniofacial dysmorphism (brachycephaly/plagiocephaly, low-set, posteriorly rotated ears, short philtrum, micrognathia) and intellectual disability. Short stature and seizures, as well as cardiac (e.g. atrial septal defect), skeletal (incl. brachy/syndactyly) and genital (e.g. micropenis, cryptorchidism) abnormalities may also be associated. Neurodevelopmental anomalies (pain insensitivity, sensorineural hearing loss, expressive language deficiency) and neuropsychiatric disorders (autistic features, auditory hallucination, self-talking) have also been reported.
Distal trisomy 11q
Distal duplication 13q
Telomeric duplication 13q
Trisomy 13qter
Distal trisomy 13q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 13, with variable phenotype principally characterized by intellectual disability, psychomotor delay, craniofacial dysmorphism (incl. microcephaly, bushy eyebrows, long curled eyelashes, hypotelorism, low-set ears, prominent nasal bridge, long philtrum, high palate, thin upper lip), short neck, polydactyly, and hemangiomas. Cardiac, urogenital and neural tube defects, as well as umbilical and inguinal hernias, seizures and hypotonia, have also been reported.
Distal trisomy 13q
Distal duplication 16q
Telomeric duplication 16q
Trisomy 16qter
Distal trisomy 16q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 16, with variable phenotype principally characterized by developmental delay, severe intellectual disability, hypotonia, facial dysmorphism (incl. high, prominent forehead, epicanthic folds, dysplastic ears, broad/depressed nasal bridge, malar hypoplasia, narrow and arched palate, thin upper lip vermilion, micrognathia) and hand/feet anomalies (e.g. arachnodactyly, talipes equinovarus). Cardiac defects, genitourinary malformations and vertebral anomalies are also associated. Thrombocytopenia and recurrent infections have also been reported.
Distal trisomy 16q
Distal duplication 20q
Telomeric duplication 20q
Trisomy 20qter
Distal trisomy 20q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 20, with high phenotypic variability mostly characterized by neurodevelopmental delay, cardiac malformations (e.g. ventricular septal defect, coarctation of aorta) and facial dysmorphism (incl. large/high forehead, microphthalmia, upslanting palpebral fissures, epicanthus, large, long, low-set ears, anteverted nares, protruding upper lip, cleft lip/palate, micro/retrognathia, dimpled chin). Skeletal (brachydactyly, scoliosis, pectus excavatum) and cerebral anomalies have also been reported.
Distal trisomy 20q
Distal duplication 22q
Telomeric duplication 22q
Trisomy 22qter
Distal trisomy 22q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 22, with variable phenotype principally characterized by varying degrees of intellectual disabilty and developmental delay, pre- and postnatal growth deficiency, hypotonia, and craniofacial dysmorphism (incl. microcephaly, hypertelorism, narrow and upslanted palpebral fissures, epicanthic folds, low-set dysplastic ears, broad and depressed nasal bridge, cleft lip an/or palate, long philtrum, retro/micrognathia). Congenital heart defects, as well as cerebral, skeletal, renal and genital anomalies, have also been reported.
Distal trisomy 22q
Non-distal duplication 9q
Non-telomeric trisomy 9q
Non-distal trisomy 9q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 9, with a highly variable phenotype principally characterized by developmental delay, short stature, intellectual disability, and craniofacial dysmorphism (e.g. microcephaly, broad forehead, low set ears, epicanthus, prominent nose, and retrognathia). Cardiac, ocular, thyroid and esophagus defects, as well as central nervous system and behavioral/psychiatric abnormalities, have also been reported.
Non-distal trisomy 9q
Trisomy 7q11.23
7q11.23 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 7 characterized by a highly variable phenotype that typically manifests with mild-moderate intellectual delay (patients could be in the normal range), speech disorders (particularly of expressive language), and distinctive craniofacial features (brachycephaly, broad forehead, straight eyebows, broad nasal tip, short philtrum, thin upper lip and facial asymmetry). Hypotonia, developmental coordination disorders, behavioral problems (such as anxiety, ADHD and oppositional disorders) and various congenital anomalies, such as heart defects, diaphragmatic hernia, renal malformations and cryptorchidism, are frequently presented. Neurological abnormalities (visible on MRI) have been reported.
7q11.23 microduplication syndrome
Del(22)
Deletion 22
Monosomy 22
6p subtelomeric deletion syndrome
6p25 microdeletion syndrome
Distal deletion 6p
Monosomy 6p25
Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism.
Distal monosomy 6p
Distal deletion 7p
Monosomy 7pter
Telomeric deletion 7p
Distal monosomy 7p is a partial autosomal monosomy characterized by developmental delay and intellectual disability, digital anomalies, congenital heart and urogenital anomalies, and specific craniofacial features, commonly including craniosynostosis.
Distal monosomy 7p
Distal deletion 19p
Telomeric deletion 19p
Distal monosomy 19p13.3 is a rare chromosomal anomaly associated with a wide range of phenotypic features depending on the size of the deletion. It may present with intrauterine growth retardation, failure to thrive, global developmental delay, dysmorphic features (such as broad forehead, midface retrusion, broad nasal bridge, micrognathia, smooth philtrum, low-set, dysplastic ears), congenital anomalies (such as atrial septal defect, gastrointestinal anomalies, renal and urogenital malformations, agenesis of the corpus callosum) and other clinical features (such as hearing loss, visual impairment and immune dysregulation).
Distal monosomy 19p13.3
Non-distal deletion 7p
Non-telomeric monosomy 7p
Non-distal monosomy 7p
Distal deletion 4q
Monosomy 4qter
Telomeric deletion 4q
Distal monosomy 4q is a partial autosomal monosomy characterized by variable combination of craniofacial, developmental, digital, skeletal, and cardiac features: hypotonia, developmental delay, growth deficiency, cleft palate, cardiovascular malformations, abnormalities of the hands and feet and typical dysmorphic features, such as microcephaly, rounded facies, small eyes, broad nasal bridge, upturned nose, full cheeks, small mouth and chin.
Distal monosomy 4q
9q subtelomeric deletion syndrome
9qSTDS
Kleefstra syndrome due to 9q subtelomeric deletion
Kleefstra syndrome due to del(9)(q34)
Kleefstra syndrome due to monosomy 9q34
Kleefstra syndrome due to 9q34 microdeletion
Distal deletion 10q
Monosomy 10qter
Telomeric deletion 10q
Distal monosomy 10q is a chromosomal anomaly involving terminal deletion of the long arm of chromosome 10 and is characterized by facial dysmorphism, pre- and postnatal growth retardation, cardiac and genital anomalies, and developmental delay.
Distal monosomy 10q
Distal deletion 12q
Monosomy 12qter
Telomeric deletion 12q
Distal monosomy 12q
Distal deletion 14q
Telomeric deletion 14q
Distal monosomy 14q is a rare chromosomal anomaly associated with various phenotypic features depending on the size of the deletion. The clinical features may include global developmental delay, hypotonia, congenital heart defects, dysmorphic features (high forehead, small palpebral fissures, epicanthi, blepharophimosis, broad and flat nasal bridge, broad philtrum, thin upper lip, high arched palate, pointed chin, malformed ears). High-pitched, weak cry, seizures and various dental and oftalmological anomalies were also reported.
Distal monosomy 14q
Distal deletion 20q
Monosomy 20qter
Telomeric deletion 20q
Distal monosomy 20q
Non-distal deletion 12q
Non-telomeric monosomy 12q
Non-distal monosomy 12q is a partial autosomal monosomy characterized by variable combination of developmental delay, intellectual disability, ectodermal, genitourinary and minor cardiac anomalies, and specific dysmorphic features (prominent forehead and low-set ears). Specific combination depends on the size and breakpoints of deleted regions.
Non-distal monosomy 12q
Non-distal deletion 20q
Non-telomeric monosomy 20q
Non-distal monosomy 20q
Duplication 8q/deletion 8p
Rec(8) syndrome
Rec8 syndrome
Recombinant chromosome 8 syndrome
San Luis Valley syndrome
Recombinant 8 (rec(8)) syndrome, also known as San Luis Valley syndrome, is a complex chromosomal disorder that is due to a parental pericentric inversion of chromosome 8 and is characterized by major congenital heart anomalies, urogenital malformations, moderate to severe intellectual deficiency and mild craniofacial dysmorphism.
Recombinant 8 syndrome
Del(13)(q34)
Distal deletion 13q34
Subtelomeric deletion 13q34
Monosomy 13q34 is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 13, principally characterized by global developmental delay, mild intellectual disability, obesity and mild craniofacial dysmorphism (microcephaly, wide rectangular forehead, downslanting palpebral fissures, mild ptosis, prominent nose with long nasal bridge and broad tip, small chin). Other variable reported features include congenital heart defects, hand and foot anomalies (e.g. polydactyly) and agenesis of the corpus callosum.
Monosomy 13q34
KdVS
Monosomy 17q21.31 (17q21.31 microdeletion syndrome) is a chromosomal anomaly characterized by developmental delay, childhood hypotonia, facial dysmorphism, and a friendly/amiable behavior.
Koolen-De Vries syndrome
Der(22)t(11;22) syndrome
Supernumerary der(22) syndrome
Emanuel syndrome is a constitutional genomic disorder due to the presence of a supernumerary derivative 22 chromosome and characterized by severe intellectual disability, characteristic facial dysmorphism (micrognathia, hooded eyelids, upslanting downslanting parebral fissures, deep set eyes, low hanging columnella and long philtrum), congenital heart defects and kidney abnormalities.
Emanuel syndrome
Ring 2
Ring chromosome 2
Ring chromosome 2 syndrome is a rare chromosomal anomaly syndrome with highly variable phenotype principally characterized by intrauterine growth retardation, failure to thrive, developmental delay, hypotonia, mild dysmorphic features (incl. microcephaly, short forehead, upslanting palpebral fissures, hypertelorism, epicanthal folds, wide nasal bridge, broad nasal tip, long philtrum, thin upper lip, micrognathia, short neck), skeletal anomalies (e.g. kyphosis, brachydactyly, clinodactyly, talipes equinovarus) and dermatological features (i.e. café-au-lait spots). Patients may also present ventriculoseptal defects and genital abnormalities (e.g. genital hypoplasia, phimosis, cryptorchidism).
Ring chromosome 2 syndrome
Ring 3
Ring chromosome 3
Ring chromosome 3 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype principally characterized by pre- and postnatal growth retardation, short stature, developmental delay, mild to severe intellectual disability, microcephaly and mild dysmorphic features (incl. triangular face, dysplastic ears, upslanting palpebral fissures, epicanthic folds, broad nasal bridge, full nasal tip, long philtrum, downturned corners of the mouth, and micro/retrognathia). Additional manifestations reported include hypotonia, mild articular limitation, hearing loss, digital anomalies (i.e. clinodacytyly, brachydactyly), café-au-lait patches and hypospadias.
Ring chromosome 3 syndrome
Ring 9
Ring chromosome 9
Ring chromosome 9 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including developmental delay, some degree of intellectual disability, facial dysmorphism, microcephaly, congenital heart anomalies, and variable genital, limb and skeletal anomalies.
Ring chromosome 9 syndrome
RC11
Ring 11
Ring chromosome 11
r(11) syndrome
Ring chromosome 11 syndrome is an autosomal anomaly characterized by variable clinical features, including early growth retardation and short stature, microcephaly, developmental delay, some degree of intellectual disability, facial dysmorphism and café-au-lait spots. In some cases, congenital heart disease and endocrine abnormalities have been reported.
Ring chromosome 11 syndrome
Ring 13
Ring chromosome 13
Ring chromosome 13 is a chromosomal anomaly of chromosome 13 characterized by a widely variable phenotype (ranging from mild to severe) principally characterized by intrauterine growth retardation, developmental delay, short stature, moderate to severe intellectual deficit, microcephaly, facial dysmorphism (i.e. upslanting palpebral fissures, hypertelorism, abnormal ears, broad nasal bridge, high arched palate, micrognathia, small mouth, and thin lips), hands and feet anomalies, and genital abnormalities. Additional features reported include behavioral problems, hearing and speech disorders, congenital heart defects, cerebral malformations, and anal atresia.
Ring chromosome 13 syndrome
Ring 15
Ring chromosome 15
Ring chromosome 15 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, characterized by pre- and/or postnatal growth retardation, variable intellectual disability, short stature, dysmorphic features (microcephaly, triangular facies, frontal bossing, hypertelorism, ear anomaly, broad nasal bridge, highly arched palate, micrognathism), hand and feet anomalies (e.g. brachydactyly, clinodactyly, syndactyly), and multiple hyperpigmented and/or hypopigmented spots. Severe phenotypes present with cardiac abnormalities and/or renal malformations. Other reported features include hypotonia, speech delay, talipes equinovarus, and genital anomalies (cryptorchidism and hypospadias).
Ring chromosome 15 syndrome
Ring 16
Ring chromosome 16
Ring chromosome 16 is a rare chromosomal anomaly syndrome, resulting from the partial deletion of chromosome 16, characterized by pre- and postnatal growth delay, severe developmental delay, intellectual disability, speech delay, and craniofacial dysmorphism (e.g. microcephaly, hypertelorism, downslanted palpebral fissures, ptosis, telecantus, low set and dysmorphic ears, broad flat nasal bridge, down-turned mouth corners, high palate, retrognathia). Patients may also present congenital cataract, mild synophrys, hypotonia, and poor social contact. Congenital heart anomalies (e.g. ventricular septal defect, patent ductus arteriosus) have also been reported.
Ring chromosome 16 syndrome
UPD(2)mat
Maternal uniparental disomy of chromosome 2 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.
Maternal uniparental disomy of chromosome 2
UPD(4)mat
Maternal uniparental disomy of chromosome 4 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.
Maternal uniparental disomy of chromosome 4
UPD(6)mat
Maternal uniparental disomy of chromosome 6 is an uniparental disomy of maternal origin characterized by intrauterine growth retardation. Homozygosity for a recessive disease mutation for which only a mother is a carrier may lead to other phenotypes.
Maternal uniparental disomy of chromosome 6
UPD(7)mat
Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 is a genetic malformation syndrome with short stature characterized by severe prenatal and postnatal growth retardation, feeding difficulties, body asymmetry, dysmorphic craniofacial features (triangular-shaped face, relative macrocephaly, frontal bossing, micrognathia, down-turned corners of the mouth) and other anomalies (fifth finger clinodactyly, café au lait macules, male genital anomalies, mild developmental delay and/or speech delay with movement disorders).
Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
UPD(9)mat
Maternal uniparental disomy of chromosome 9 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.
Maternal uniparental disomy of chromosome 9
UPD(14)mat
Maternal uniparental disomy of chromosome 14 is a rare chromosomal anomaly characterized by prenatal and postnatal growth retardation, hypotonia, motor delay, early puberty, obesity, short adult stature, small hands and feet, mild intellectual disability, and mild dysmorphic facial features (frontal bossing, short nose with wide nasal tip, micrognathia, high palate, short philtrum).
Temple syndrome due to maternal uniparental disomy of chromosome 14
UPD(16)mat
Maternal uniparental disomy of chromosome 16 is a uniparental disomy of maternal origin which might be associated with intrauterine growth retardation and an elevated risk of congenital malformations. Healthy carriers have also been reported. In addition, cases of homozygosity for a recessive disease mutation for which the mother was a carrier have been described, and specific phenotype depends on the inherited disorder.
Maternal uniparental disomy of chromosome 16
Maternal UPD(20)
UPD(20)mat
Maternal uniparental disomy of chromosome 20 (UPD 20) is a very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the mother. The main feature described is prenatal and postnatal growth retardation. Microcephaly, minor dysmorphic features and psychomotor developmental delay have been occasionally reported. Maternal UPD20 is most often ascertained by a mosaic trisomy 20 pregnancy.
Maternal uniparental disomy of chromosome 20
UPD(21)mat
Maternal uniparental disomy of chromosome 21 is a uniparental disomy of maternal origin that does not seem to have an adverse impact on the phenotype of an individual. There is a possibility of homozygosity for a recessive disease mutation for which the mother is a carrier and specific phenotype depends on the inherited disorder.
Maternal uniparental disomy of chromosome 21
UPD(22)mat
Maternal uniparental disomy of chromosome 22 is a uniparental disomy of maternal origin that does not seem to have an adverse impact on the phenotype of an individual. There is a possibility of homozygosity for a recessive disease mutation for which the mother is a carrier and specific phenotype depends on the inherited disorder.
Maternal uniparental disomy of chromosome 22
UPD(5)pat
Paternal uniparental disomy of chromosome 5 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier.
Paternal uniparental disomy of chromosome 5
UPD(6)pat
Paternal uniparental disomy of chromosome 6 is an uniparental disomy of paternal origin characterized by intrauterine growth retardation, transient neonatal diabetes mellitus, and macroglossia.
Paternal uniparental disomy of chromosome 6
UPD(7)pat
Paternal uniparental disomy of chromosome 7 is an uniparental disomy of paternal origin that most likely do not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier (e.g., cystic fibrosis, congenital chloride diarrhea, sensorineural hearing loss).
Paternal uniparental disomy of chromosome 7
Mosaic paternal uniparental disomy of chromosome 11
UPD(11)pat
Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
Paternal UPD(20)
UPD(20)pat
Paternal uniparental disomy of chromosome 20 is a very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the father. The main features described are high birth weight and/or early-onset obesity, relative macrocephaly, and tall stature. Most patients were ascertained during sporadic pseudohypoparathyroidism type 1b (see this term) testing and have UPD involving variable segments of the long arm of chromosome 20.
Paternal uniparental disomy of chromosome 20
UPD(21)pat
Paternal uniparental disomy of chromosome 21 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier.
Paternal uniparental disomy of chromosome 21
X small rings is a rare chromosome X structural anomaly, with highly variable phenotype, principally characterized by developmental delay, intellectual disability, short stature, craniofacial dysmorphism (incl. microcephaly, facial asymmetry, hypertelorism, long palpebral fissures, epicanthus, low-set or malrotated ears, broad nose with a flat nasal bridge, anteverted nares, long philtrum, thin upper lip, high arched palate, micrognathia) and skeletal anomalies (e.g. cubitus valgus, talipes equinovarus). Patients may also present heart malformations (e.g. ventricular septal defects, mitral valve stenosis), sacral dimple, soft tissue syndactyly, pigmented nevi, and seizures.
X small rings
use http://www.orpha.net/ORDO/Orphanet_68361 with label: Rare deafness
Corticotroph pituitary adenoma
Pituitary corticotroph micro-adenoma
Pituitary-dependent Cushing syndrome
Cushing disease (CD) is the most common cause of endogenous Cushing syndrome (CS; see this term) and is due to pituitary chronic over-secretion of ACTH by a pituitary corticotroph adenoma.
Cushing disease
Somatotropinoma
Somatotropic adenoma
The 48,XXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of two extra X chromosomes in males.
48,XXXY syndrome
The 49,XXXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of three extra X chromosomes in males.
49,XXXXY syndrome
46,XY DSD due to complete LH receptor inactivation
46,XY DSD due to complete LH resistance
46,XY DSD due to complete luteinizing hormone receptor inactivation
46,XY DSD due to complete luteinizing hormone resistance
46,XY disorder of sex development due to complete LH receptor inactivation
46,XY disorder of sex development due to complete LH resistance
46,XY disorder of sex development due to complete luteinizing hormone receptor inactivation
46,XY disorder of sex development due to complete luteinizing hormone resistance
Leydig cell hypoplasia due to complete LH receptor inactivation
Leydig cell hypoplasia due to complete luteinizing hormone receptor inactivation
Leydig cell hypoplasia due to complete luteinizing hormone resistance
Leydig cell hypoplasia due to complete LH resistance
46,XY DSD due to partial LH receptor inactivation
46,XY DSD due to partial LH resistance
46,XY DSD due to partial luteinizing hormone resistance
46,XY disorder of sex developement due to partial LH receptor inactivation
46,XY disorder of sex developement due to partial LH resistance
46,XY disorder of sex developement due to partial luteinizing hormone resistance
Leydig cell hypoplasia due to partial LH receptor inactivation
Leydig cell hypoplasia due to partial luteinizing hormone receptor inactivation
Leydig cell hypoplasia due to partial luteinizing hormone resistance
Leydig cell hypoplasia due to partial LH resistance
Congenital absence of vagina
Isolated partial vaginal agenesis is a rare, non-syndromic urogenital tract malformation characterized by the absence of a vagina or the presence of a vaginal dimple shorter than 5 cm. It is often associated with uterine agenesis, hematocolpos or primary amenorrhea and dyspareunia. Ovaries and fallopian tubes are normal.
Isolated partial vaginal agenesis
Acromegaly is an acquired disorder related to excessive production of growth hormone (GH) and characterized by progressive somatic disfigurement (mainly involving the face and extremities) and systemic manifestations.
Acromegaly
Polyploidy
Isochromosome Y
Rare otorhinolaryngological malformation
UPD(14)pat
Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
Rare gynecologic or obstetric disease
Anorectal malformation
Early-onset schizophrenia
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_2796 with label: Pachydermoperiostosis
Acromegaly-cutis verticis gyrata-corneal leukoma syndrome
Acromegaloid facial appearance (AFA) syndrome is a multiple congenital anomalies/dysmorphic syndrome (see this term) with a probable autosomal dominant inheritance, characterized by a progressively coarse acromegaloid-like facial appearance with thickening of the lips and intraoral mucosa, large and doughy hands and, in some cases, developmental delay. AFA syndrome appears to be part of a phenotypic spectrum that includes hypertrichotic osteochondrodysplasia, Cantu type and hypertrichosis-acromegaloid facial appearance syndrome (see these terms).
Acromegaloid facial appearance syndrome
HAFF
Hypertrichosis-acromegaloid facial features syndrome
Hypertrichosis-coarse face syndrome
Hypertrichosis-acromegaloid facial appearance syndrome (HAFF) is a very rare multiple congenital abnormality syndrome manifesting from birth with progressive hypertrichosis congenita terminalis (thick scalp hair extending onto the forehead with generalized increased body hair) associated with a typical acromegaloid facial appearance (thick eyebrows, prominent supraorbital ridges, broad nasal bridge, anteverted nares, long and large philtrum, and prominent mouth with full lips) appearing during childhood. HAFF seems to belong to a spectrum of phenotypes with the clinically overlapping acromegaloid facial appearance syndrome and hypertrichotic osteochondrodysplasia, Cantù type (see these terms).
Hypertrichosis-acromegaloid facial appearance syndrome
Acromesomelic dwarfism
Acromesomelic dysplasia, Hunter-Thomson type is an autosomal recessively inherited form of acromesomelic dysplasia (see this term) characterized by severe dwarfism (adult height approximately 120 cm) with abnormalities limited to the limbs (affecting the lower limbs more than upper limbs, with middle and distal segments being the most affected), severe shortening, absence or fusion of tubular bones of hands and feet and large joint dislocations. As seen in acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Maroteaux type (see these terms), facial features and intelligence are normal.
Acromesomelic dysplasia, Hunter-Thompson type
Acromicric dysplasia is a rare bone dysplasia characterized by short stature, short hands and feet, mild facial dysmorphism, and characteristic X-ray abnormalities of the hands.
Acromicric dysplasia
Episodic ataxia type 2
Episodic ataxia type 2 (EA2) is the most frequent form of Hereditary episodic ataxia (EA; see this term) characterized by paroxysmal episodes of ataxia lasting hours, with interictal nystagmus and mildly progressive ataxia.
Familial paroxysmal ataxia
Autosomal recessive sensory radicular neuropathy
Hereditary sensory and autonomic neuropathy type II
Neurogenic acroosteolysis
Hereditary sensory and autonomic neuropathy, type 2 (HSAN2) is an inherited disorder characterized by profound and universal sensory loss involving large and small fiber nerves, and marked hypotonia.
Hereditary sensory and autonomic neuropathy type 2
Acrorenal syndrome comprises a wide spectrum of congenital malformative disorders characterized by the co-occurrence of distal limb anomalies (usually bilateral cleft feet and/or hands) and renal defects (e.g. unilateral or bilateral agenesis), that can be associated with a variety of other anomalies such as those of genitourinary tract (genital anomalies, ureteral hypoplasias, vesicoureteral reflux), abdominal well defects, intestinal atresias, and lung malformations. Familial cases have been reported in which an autosomal recessive inheritance was suspected.
Acrorenal syndrome
Distal arthrogryposis
Hereditary continuous muscle fiber activity is a rare, non-dystrophic myopathy characterized by generalized myokymia and increased muscle tone associated with delayed motor milestones, leg stiffness, spastic gait, hyperreflexia and Babinski sign. Symptoms may be worsened by febrile illness or anesthesia.
Hereditary continuous muscle fiber activity
Eisenmenger syndrome (ES) is a form of pulmonary arterial hypertension (PAH) associated with unoperated congenital heart disease and is characterized by congenital heart malformations with reversed or bi-directional shunting through an intra-cardiac or intervascular (usually aorto-pulmonary) communication with the development of PAH.
Eisenmenger syndrome
Brown-Vialetto-van Laere syndrome
Sensorineural hearing loss-pontobulbar palsy syndrome
Riboflavin transporter deficiency (RTD) is a progressive motor neuron disorder characterized by respiratory insufficiency, sensorineural deafness and progressive ponto-bulbar palsy.
Riboflavin transporter deficiency
Solar urticaria (SU) is a rare and difficult to treat photosensitive disease, in which local skin swelling occurs within minutes of exposure to natural sunlight or even artificial light sources emitting ultraviolet radiation.
Solar urticaria
Conjunctivitis lignosa
Ligneous conjunctivitis (LC) is a rare form of chronic conjunctivitis characterised by the recurrent formation of pseudomembranous lesions most commonly on the palpebral surfaces. It is most frequently reported as a clinical manifestation of severe homozygous or compound-heterozygous hypoplasminogenemia (see this term).
Ligneous conjunctivitis
Fingerprint body myopathy is a congenital benign muscle disorder characterised by congenital hypotonia and weakness and by the presence of numerous fingerprint bodies located at the periphery of the muscle fibers. Prevalence is unknown. Less than 20 patients have been described. Few sporadic cases have been observed, as well as cases of recessive transmission.
Fingerprint body myopathy
GSD due to phosphoglycerate mutase deficiency
GSD type 10
Glycogenosis due to phosphoglycerate mutase deficiency
Muscle phosphoglycerate mutase deficiency
Myopathy due to phosphoglycerate mutase deficiency
Muscle phosphoglycerate mutase deficiency (PGAMD) is a metabolic myopathy characterised by exercise-induced cramp, myoglobinuria, and presence of tubular aggregates in the muscle biopsy. Serum creatine kinase (CK) levels are increased between episodes of myoglobinuria. Less than 50 cases have been described so far. The disease is due to an anomaly in one of the last steps of glycolysis. The enzymatic defect in PGAMD is caused by mutations in the cDNA coding for the M-isoform of PGAM. Residual PGAM activity in the muscles of patients (2%-6%) is due to activity of the B-isoform. Transmission is autosomal recessive. Differential diagnosis includes muscle phosphorylase deficiency (McArdle disease) and phosphofructokinase deficiency (PFKD) (see these terms).
Glycogen storage disease due to phosphoglycerate mutase deficiency
Rippling muscle disease is a rare, genetic, neuromuscular disorder characterized by muscle hyperirritability triggered by stretch, percussion or movement. Patients present wave-like, electrically-silent muscle contractions (rippling), muscle mounding, painful muscle stiffness and muscle hypertrophy, usually with elevated serum creatine kinase.
Rippling muscle disease
Reducing body myopathy (RBM) is a rare muscle disorder marked by progressive muscle weakness and the presence of characteristic inclusion bodies in affected muscle fibres.
Reducing body myopathy
) gene may be involved.
Zebra body myopathy
CMD
MDC
and Nesprin-1-related CMD; see these terms).
Congenital muscular dystrophy
Rigid spine congenital muscular dystrophy
Rigid spine syndrome (RSS) is a slowly progressive childhood-onset congenital muscular dystrophy (see this term) characterized by contractures of the spinal extensor muscles associated with abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency.
Rigid spine syndrome
Congenital myopathy
CLAM
Cerebellar atrophy with progressive microcephaly
PCH with optic atrophy
PCH without dyskinesia
PCH3
Pontocerebellar hypoplasia type 3 (PCH3), also known as cerebellar atrophy with progressive microcephaly (CLAM) is a rare form of pontocerebellar hypoplasia (see this term) with autosomal recessive transmission characterized neonatally by hypotonia and impaired swallowing and from infancy onward by seizures, optic atrophy and short stature, but none of the clinical findings are specific for PCH3.
Pontocerebellar hypoplasia type 3
Mega-cisterna magna
PNET
Pancreatic NET
Pancreatic neuroendocrine tumor
Well-differentiated NEN of pancreas
Well-differentiated neuroendocrine neoplasm of pancreas
Well-differentiated pancreatic NEN
Well-differentiated pancreatic neuroendocrine neoplasm
Pancreatic endocrine tumor, also known as pancreatic neuroendocrine tumor (PNET), describes a group of endocrine tumors originating in the pancreas that are usually indolent and benign, but may have the potential to be malignant. They can be functional, exhibiting a hormonal hypersecretion syndrome, but can be non-functional presenting with non-specific symptoms and include insulinoma, glucagonoma, VIPoma, somatostatinoma (SSoma), PPoma and Zollinger-Ellison syndrome (ZES, or gastrinoma) and other ectopic hormone producing tumors (such as GRFoma) (see these terms).
Neuroendocrine tumor of pancreas
GRF tumor
Growth hormone releasing factor tumor
6cm and approximately 1/3 have metastasized at the time of diagnosis. It often co-occurs with Zollinger-Ellison syndrome or multiple endocrine neoplasia type 1 (MEN 1; see these terms).
GRFoma
Encephalitis
Pancreatic polypeptidoma
PPoma is a type of pancreatic endocrine tumor (see this term) that hypersecretes pancreatic polypeptide (PP) but that does not cause a hypersecretion syndrome (is non-functioning) and instead presents with only non-specific symptoms such as weight loss, abdominal pain, jaundice, diarrhea and/or an abdominal mass, hence leading to a late diagnosis. PPoma can be associated with multiple endocrine neoplasia 1 (MEN-1; see this term).
PPoma
Insulinoma is the most common type of functioning pancreatic neuroendocrine tumor (see this term) characterized most commonly by a solitary, small pancreatic lesion that causes hyperinsulinemic hypoglycemia.
Insulinoma
Glucagonoma syndrome
Glucagonoma is a rare, functioning type of pancreatic neuroendocrine tumor (PNET; see this term) that hypersecretes glucagon, leading to a syndrome comprised of necrolytic migratory erythema, diabetes mellitus, anemia, weight loss, mucosal abnormalities, thromboembolism, gastrointestinal and neuropsychiatric symptoms.
Glucagonoma
Diarrheogenic islet cell tumor
Pancreatic cholera
VIP-secreting tumor
Verner-Morrison syndrome
WDHA syndrome
Watery diarrhea-hypokalemia-achlorhydria syndrome
VIPoma is an extremely rare type of pancreatic neuroendocrine tumor (see this term) that secretes vasoactive intestinal polypeptide (VIP) leading to the manifestations of watery diarrhea, hypokalemia and achlorhydia or hypochhlorhydia (known as WDHA syndrome).
VIPoma
Somatostatinoma (SSoma) is an extremely rare pancreatic neuroendocrine tumor or duodenal endocrine tumor (see these terms) that originates either in the pancreas (50%) or the gastrointestinal tract (50%) and mainly presents with non-specific symptoms of abdominal pain, weight loss, jaundice and diarrhea but, in approximately 20% of pancreatic cases, leads to a somatostatin hypersecretion syndrome (somatostatinoma syndrome) characterized by diabetes mellitus, cholelithiasis, steatorrhea and hypochlorhydria.
Somatostatinoma
Thyroid lymphoma
Carney dyad
Carney-Stratakis dyad
GIST-paraganglioma dyad
Paraganglioma and gastric stromal sarcoma
Carney-Stratakis syndrome is a recently described familial syndrome characterized by gastrointestinal stromal tumors (GIST) and paragangliomas, often at multiple sites.
Carney-Stratakis syndrome
Bronchial NET
Bronchial neuroendocrine tumor
Thymic endocrine tumor is a rare, malignant, primary thymic neoplasm originating from neuroendocrine cells, presenting as a mass within the anterior mediastinum. Patients typically present with nonspecific symptoms, such as chest pain, cough, shortness of breath, or in some cases, superior vena cava syndrome, although patients could be asymptomatic during the early stages or present with multiple endocrine neoplasia type I. Ectopic production of ACTH and serotonin can lead to Cushing syndrome and carcinoid syndrome, respectively.
Thymic neuroendocrine tumor
PTC-RCC
Familial papillary thyroid carcinoma with renal papillary neoplasia (fPTC/PRN) is an extremely rare inherited tumor syndrome within the familial nonmedullary thyroid cancer group (fNMTC; see this term).
Familial papillary thyroid carcinoma with renal papillary neoplasia
Rare benign ovarian tumor
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_60030 with label: Loeys-Dietz syndrome
BOS syndrome
Bohring syndrome
C-like syndrome
Oberklaid-Danks syndrome
Opitz trigonocephaly-like syndrome
Bohring-Opitz syndrome is characterised by intrauterine growth retardation (IUGR), failure to thrive, facial dysmorphism (prominent metopic suture and forehead nevus flammeus, a low frontal and temporal hairline with hirsutism, puffy cheeks, upslanting palpebral fissures, exophthalmos, hypertelorism, cleft lip and palate, retrognathia and low set ears), flexion deformities of the elbows and wrists, camptodactyly, ulnar deviation of the fingers, foot anomalies and severe developmental delay. Less than 20 patients have been described so far. Although the large majority of reported cases occurred sporadically, autosomal recessive inheritance has also been reported.
Bohring-Opitz syndrome
Adactyly of hand, unilateral
Digits 2-5 hypodactyly, unilateral
Digits 2-5 oligodactyly, unilateral
Congenital absence/hypoplasia of fingers excluding thumb, unilateral is a rare, non-syndromic, terminal transverse limb reduction defect characterized by unilateral absence of the terminal portions of digits 2 to 5, with a mildly hypoplastic thumb and small nail remnants on the digital stumps. Metacarpal bones may be variably reduced.
Congenital absence/hypoplasia of fingers excluding thumb, unilateral
TOS
Thoracic outlet compression syndrome
Thoracic outlet syndrome (TOS) is a group of disorders characterized by paresthesias, pain and weakness of the upper extremities due to compression, tension or inflammation of the neurovascular bundle as it passes through the thoracic outlet. There are 3 forms of TOS with different clinical pictures and etiologies: neurogenic TOS (NTOS) that can be divided into true or disputed forms, arterial TOS (ATOS) and venous TOS (VTOS) (see these terms).
Thoracic outlet syndrome
Aseptic necrosis of the lunate bone
Lunatomalacia
Osteochondritis of the lunate bone
Osteochondrosis of the lunate bone
Kienbock disease is a rare bone disorder of unknown etiology characterized clinically by osteonecrosis of the carpal lunate, eventually leading to collapse of the lunate bone impacting wrist function.
Kienbock disease
Aseptic necrosis of the tibial tubercle
Osteochondritis of the tibial tubercle
Osteochondrosis of the tibial tubercle
Osgood-Schlatter disease is a traction apophysitis of the anterior tibial tubercle described in active adolescents and characterized by gradual onset of pain and swelling of the anterior knee causing limping that usually disappears at the end of growth.
Osgood-Schlatter disease
Aseptic necrosis of the capital humerus
Osteochondrosis of the capital humerus
Panner's disease is an osteochondrosis of the capitellum of the humerus, characterised by involvement of the dominant upper limb and onset before the age of 10 years. It results from lateral compression injuries of the elbow typically occurring in children practising sports such as baseball and throw. It should be distinguished from osteochondritis dissecans of the capitellum (see this term), occurring later, in adolescents. Management is symptomatic and consists in reducing the activities of the affected elbow for a prolonged period of time. Prognosis is good.
Panner disease
Aseptic necrosis of patella
Osteochondrosis of patella
Sinding-Larsen-Johansson disease is a type of osteochondrosis affecting the attachment of the patellar tendon to the patella and characterised by tenderness and localized swelling of the patella.
Sinding-Larsen-Johansson disease
Clear cell sarcoma of the tendons and aponeuroses
Melanoma of soft tissue
Cranial dural arteriovenous fistula
Cranial dural arteriovenous malformations
Dural sinus malformation
Hunter-McAlpine craniosynostosis is characterised by craniosynostosis, intellectual deficit, short stature, facial dysmorphism (oval face with almond-shaped palpebral fissures, droopy eyelids and a small nose) and minor distal anomalies. It has been described in 10 patients. Transmission is autosomal dominant and the syndrome is associated with partial duplication of the long arm of chromosome 5 (5q35-5qter).
Hunter-McAlpine craniosynostosis
Persistent placoid maculopathy is characterised by white plaque-like lesions involving the macula but sparing the peripapillary areas of both eyes. It has been described in five patients. In contrast to patients with macular serpiginous choroiditis presenting with similar lesions, the five patients reported so far with persistent placoid maculopathy had good visual acuity until the onset of choroidal neovascularization (CNV) or pigmentary mottling. The macular lesions fade after several months or years, but the vascular anomalies persist leading to a loss of central vision.
Persistent placoid maculopathy
use http://www.orpha.net/ORDO/Orphanet_98534 with label: Neurodegenerative disease with dementia
Familial dementia, British type
ABri amyloidosis is a rare, neurodegenerative disease characterized by progressive cognitive impairment, spastic tetraparesis, and cerebellar ataxia resulting from amyloid deposits in the brain. Spasticity with increased deep tendon reflexes and tone are early symptoms, muscular rigidity evolves later. Progressive mental deterioration usually starts with apathy and impaired memory with progression to complete disorientation.
ABri amyloidosis
Familial dementia, Danish type
ADan amyloidosis is a rare, neurodegenerative disease characterized by progressive cataracts, hearing loss, cerebellar ataxia, paranoid psychosis and dementia. Neuropathological features are diffuse atrophy of all parts of the brain, chronic diffuse encephalopathy and the presence of extremely thin and almost completely demyelinated cranial nerves.
ADan amyloidosis
Postencephalitic parkinsonism
Pellagra is a nutritional disorder caused by a deficiency in niacin (vitamin B3) or its precursor (tryptophan) that is mainly observed in Asia and Africa where it is generally due to poor nutrition. It is characterized by dermatitis (symmetrical photodistributed erythema that may be accompanied by vesicles and bullae, and that develops into hyperkeratotic and hyperpigmented skin), gastrointestinal symptoms (diarrhea), and neuropsychiatric disorders (dementia). It can be life-threatening without a correct management.
Pellagra
Boxer's dementia
Chronic traumatic encephalopathy
Punch-drunk syndrome
Dementia pugilistica
Parkinsonism with dementia of Guadeloupe is characterised by symmetrical bradykinesia, predominantly axial rigidity, postural instability with early falls and cognitive decline with prominent features of frontal lobe dysfunction.
Parkinsonism with dementia of Guadeloupe
Acral dysostosis with facial and genital abnormalities
Fetal face syndrome
Mesomelic dwarfism-small genitalia syndrome
Robinow dwarfism
Robinow-Silverman-Smith syndrome
Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia.
Robinow syndrome
Unilateral renal hypoplasia is a form of renal hypoplasia (see this term), a renal developmental anomaly in which one kidney is small and has a deficit in the number of nephrons present.
Renal hypoplasia, unilateral
Bilateral renal hypoplasia is a form of renal hypoplasia (see this term), a renal developmental anomaly in which both kidneys are small and have a deficit in the number of nephrons present.
Renal hypoplasia, bilateral
Unilateral MCDK
Unilateral multicystic renal dysplasia
Unilateral multicystic dysplastic kidney is the form of multicystic dysplastic kidney (MCDK, see this term), a congenital anomaly of the kidney and urinary tract (CAKUT), in which one kidney is large, distended by multiple cysts, and non-functional.
Unilateral multicystic dysplastic kidney
Bilateral MCDK
Bilateral multicystic renal dysplasia
Bilateral multicystic dysplastic kidney (MCDK) is a lethal form of multicystic dysplastic kidney (MCDK, see this term), a congenital anomaly of the kidney and urinary tract (CAKUT), in which both kidneys are large, distended by non-communicating multiple cysts and non-functional.
Bilateral multicystic dysplastic kidney
Multilocular cyst of the kidney
Multilocular renal cyst
Multiloculated renal cyst
'Renal tubular dysgenesis due to twin-twin transfusion syndrome (TTTS; see this term) is an acquired form of renal tubular dysgenesis (see this term) that develops in donor fetuses due to the uneven shunting of growth factor and nutrients to the kidney of the recipient and is characterized by absent or poorly developed proximal tubules, persistent oligohydramnios and consequently the Potter sequence (facial dysmorphism with large and flat low-set ears, lung hypoplasia, arthrogryposis and limb positioning defects).'
Renal tubular dysgenesis due to twin-twin transfusion
Drug-related renal tubular dysgenesis
Renal tubular dysgenesis of genetic origin
AOS
Congenital scalp defects with distal limb anomalies
Congenital scalp defects with distal limb reduction anomalies
Limb, scalp and skull defects
Adams-Oliver Syndrome (AOS) is a rare disorder characterized by the combination of congenital limb abnormalities and scalp defects, often accompanied by skull ossification defects.
Adams-Oliver syndrome
Ivemark syndrome
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_69061 with label: Idiopathic steroid-sensitive nephrotic syndrome
Steroid-sensitive nephrotic syndrome without renal biopsy
Sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy
Congenital and infantile nephrotic syndrome
Idiopathic membranous glomerulonephritis (IMG) is a primary glomerular disease characterized by proteinuria, usually in the nephrotic range, with preserved renal function.
Idiopathic membranous glomerulonephritis
Pauci-immune glomerulonephritis with antineutrophil cytoplasmic antibody
Pauci-immune glomerulonephritis (GN) with antineutrophil cytoplasmic antibodies (ANCA) is a form of rapidly progressive GN comprising about 90% of pauci-immune glomerulonephritis (see this term), and associated with the presence of circulating ANCA (mostly directed against proteinase-3 (PR3) and myeloperoxidase (MPO)). Patients usually present with hematuria and rapidly declining renal function, often leading to dialysis within weeks without treatment. Cutaneous, pulmonary, musculoskeletal and nervous involvement may be observed in case of systemic disease, and the correlation between ANCA titer and disease activity has been demonstrated.
Pauci-immune glomerulonephritis with ANCA
Antineutrophil cytoplasmic antibody-negative pauci-immune glomerulonephritis
Pauci-immune glomerulonephritis without antineutrophil cytoplasmic antibody
Pauci-immune glomerulonephritis (GN) without antineutrophilic cytoplasmic antibodies (ANCA) is a form of rapidly progressive glomerulonephritis comprising 10-43% of pauci-immune glomerulonephritis (see this term) and characterized by the absence of ANCA. In comparison with pauci-immune GN with ANCA (see this term), patients lacking ANCA may be younger at onset of the disease and have a shorter interval from onset of the disease to diagnosis. They have fewer extra renal manifestations (e.g. involvement of lung, eye, ear, nose and throat), fewer constitutional symptoms (e.g. fever, weight loss, muscle pain and arthralgia) and a high prevalence of nephrotic syndrome and chronic renal lesions. Their prognosis is generally poorer.
Pauci-immune glomerulonephritis without ANCA
Congo red-negative amyloidosis-like glomerulopathy
Non-amyloid fibrillary glomerulonephritis
Non-amyloid fibrillary glomerulopathy (non-amyloid FGP) is a rare cause of glomerulonephritis (GN) characterized by glomerular accumulation of non-amyloid fibrils in the mesangium and the glomerular (and rarely tubular) basement membrane, that mainly presents with renal insufficiency, micro-hematuria and nephrotic range proteinuria. Non-amyloid FGP and immunotactoid glomerulopathy (ITG, see this term) are often grouped together as pathogenetically related diseases.
Non-amyloid fibrillary glomerulopathy
Immunotactoid glomerulonephritis
Immunotactoid glomerulopathy (ITG) is a very rare condition characterized by glomerular accumulation of microtubules in the mesangium and the glomerular basement membrane, that mainly presents with proteinuria, micro-hematuria, nephrotic syndrome, renal insufficiency and hematologic malignancy. ITG and non-amyloid fibrillary glomerulopathy (non-amyloid FGP, see this term) are often grouped together as pathogenetically related diseases.
Immunotactoid glomerulopathy
use http://www.orpha.net/ORDO/Orphanet_93551 with label: Secondary glomerular disease
OBSOLETE: Unclassified glomerulonephritis
Pseudohypoparathyroidism (PHP) is a heterogeneous group of endocrine disorders characterized by normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcemia, hyperphosphatemia and elevated PTH levels and that includes the subtypes PHP type 1a (PHP-1a) , PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) and pseudopseudohypoparathyroidism (PPHP) (see these terms).
Pseudohypoparathyroidism
Congenital renovascular hypoplasia
Congenital renal artery stenosis
use http://www.orpha.net/ORDO/Orphanet_93618 with label: Rare cause of hypertension
OBSOLETE: Arterial hypertension due to renal artery stenosis secondary to vasculitis
2,8-dihydroxyadenine urolithiasis
APRT deficiency
Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive (AR) disorder characterized by the formation and hyperexcretion of 2,8-dihydroxyadenine (2,8-DHA) in urine, causing urolithiasis and crystalline nephropathy.
Adenine phosphoribosyltransferase deficiency
use http://www.orpha.net/ORDO/Orphanet_69063 with label: Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization
OBSOLETE: Neonatal membranous glomerulopathy with maternal NEP deficiency
UPD(13)mat
Maternal uniparental disomy of chromosome 13 is an uniparental disomy of maternal origin that most likely do not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.
Maternal uniparental disomy of chromosome 13
Del(17)(q11)
Monosomy 17q11
NF1 microdeletion syndrome
Neurofibromatosis type 1 microdeletion syndrome
17q11 microdeletion syndrome is a rare severe form of neurofibromatosis type 1 (NF1; see this term) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies, and a large number of neurofibromas.
17q11 microdeletion syndrome
Adrenomyodystrophy is an extremely rare genetic endocrine disease characterized by primary adrenal insufficiency, dystrophic myopathy, hepatic steatosis, severe psychomotor delay, megalocornea, failure to thrive, chronic constipation, and terminal bladder ectasia which can lead to death. There have been no further descriptions in the literature since 1982.
Adrenomyodystrophy
Acro-dermato-ungual-lacrimal-tooth syndrome
Acrodermatounguallacrimaltooth syndrome
Pigment anomaly-ectrodactyly-hypodontia syndrome
ADULT (Acro-dermo-ungual-lacrimal-tooth) syndrome is a rare ectodermal dysplasia syndrome (see this term) characterized by ectrodactyly, syndactyly, mammary hypoplasia, and excessive freckling as well as other typical ectodermal defects such as hypodontia, lacrimal duct anomalies, hypotrichosis, and onychodysplasia.
ADULT syndrome
Peripheral resistance to thyroid hormones may be a cause of permanent congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth.
Peripheral resistance to thyroid hormones
Rare cardiac disease
Rare gastroenterologic disease
Gastroduodenal malformation
Intestinal malformation
Rare respiratory disease
Respiratory or thoracic malformation
Rare surgical thoracic disease
Rare surgical cardiac disease
Rare ophthalmic disorder
Rare endocrine disease
Rare hematologic disease
Autosomal recessive spastic ataxia type 6
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegenerative disorder characterised by early-onset cerebellar ataxia with spasticity, a pyramidal syndrome and peripheral neuropathy.
Autosomal recessive spastic ataxia of Charlevoix-Saguenay
Unilateral absence of the pulmonary artery (UAPA) is a rare congenital great vessels anomaly that commonly presents by dyspnea, frequent respiratory infections, hemoptysis and high-altitude pulmonary edema. UAPA is often associated with congenital heart malformation (CHM, see this term). In the absence of associated cardiac malformation (isolated UAPA; IUAPA), the condition may be asymptomatic until adult age.
Absence of the pulmonary artery
Rare immune disease
Rare nervous system disease
Rare neurologic disease
Infectious disease of the nervous system
Rare headache
Rare systemic or rheumatologic disease
Rare odontologic disease
Rare disease with odontological manifestation
Rare circulatory system disease
Rare neurologic disease with psychiatric involvement
Rare otorhinolaryngologic disease
Cranial malformation
Digestive tract malformation
Visceral malformation of the liver, biliary tract, pancreas or spleen
Diaphragmatic or abdominal wall malformation
Central nervous system malformation
Respiratory or mediastinal malformation
Rare infertility
Rare male infertility
Rare female infertility
Rare allergy
Rare allergic disease
Rare respiratory allergy
Rare allergic respiratory disease
Rare genetic disease
Rare genetic cardiac disease
Rare genetic renal disease
Rare neoplasm
Rare tumor
Rare urinary tract cancer
Rare urinary tract neoplasm
Rare urinary tract tumor
Rare digestive cancer
Rare digestive neoplasm
Rare digestive tumor
Rare respiratory cancer
Rare respiratory neoplasm
Rare respiratory tumor
Rare ORL cancer
Rare ORL neoplasm
Rare ORL tumor
Rare otorhinolaryngologic tumor
Rare nervous system neoplasm
Rare nervous system tumor
Rare gynaecological cancer
Rare gynaecological neoplasm
Rare gynecological tumor
OBSOLETE: Rare disease in physical medicine and rehabilitation
Gonadal dysgenesis of gynecological interest
46,XX DSD induced by androgens excess
46,XX disorder of sex development induced by androgens excess
46,XY DSD
46,XY disorder of sex development
46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue
Syndrome with 46,XY DSD
Syndrome with 46,XY disorder of sex development
Autosomal recessive congenital cerebellar ataxia
Autosomal recessive metabolic cerebellar ataxia
Autosomal recessive cerebellar ataxia due to a DNA repair defect
Autosomal recessive degenerative and progressive cerebellar ataxia
Autosomal recessive syndromic cerebellar ataxia
Internal carotid artery (ICA) agenesis (uni or bilateral) is a developmental defect that may be asymptomatic or lead to cerebrovascular lesions. It is a rare malformation, with only around hundred cases reported in the literature. When symptoms are present, they are caused by cerebrovascular insufficiency, compression of the brain by vessels that dilate to compensate for the absence of the ICA, or the presence of an aneurysm. Associated intracranial aneurysms occur in 25 to 35% of patients and are often responsible for intracranial hemorrhage, which may present as the initial symptom. The absence of the ICA is the result of either agenesis or aplasia. The term agenesis is used when both the ICA and its bony canal are absent, whereas there is some evidence of carotid canals in cases of aplasia. The absence of the ICA can be detected by angiography or by computerised tomography.
Internal carotid agenesis
Autosomal anomaly
Autosomal duplication
Autosomal trisomy
Total autosomal trisomy
Partial autosomal trisomy/tetrasomy
Total autosomal monosomy
Partial autosomal deletion
Partial autosomal monosomy
Autosomal uniparental disomy
Maternal uniparental disomy
Paternal uniparental disomy
Sex-chromosome anomaly
Gonosome anomaly
Sex-chromosome number anomaly
Gonosome number anomaly
Sex-chromosome structural anomaly
Gonosome structural anomaly
Chromosome Y structural anomaly
Chromosome X structural anomaly
Dysmorphologic diseases with phakomatosis
Malformation syndrome with hamartosis
Absent pulmonary valve syndrome
Congenital absence of the pulmonary valve
PVA
Pulmonary valve agenesis is a rare congenital heart malformation characterized by a total or partial absence of the pulmonary valve leaflets associated with stenosis of the pulmonary artery orifice and aneurysmal dilatation of the pulmonary arteries. It usually occurs in association with additional cardiovascular malformations such as teralogy of fallot or ventricular septal defect, or can occur as part of a syndrome (e.g. 22q11.2 deletion syndrome). Clinical features depend on the presence of associated cardiac malformations and include pulmonary insufficiency, bronchial obstruction (secondary to compression by aneurysmally dilated pulmonary arteries), pulmonary stenosis, cyanosis, and cardiac failure.
Pulmonary valve agenesis
Dystonia-plus syndrome
Combined dystonia
use http://www.orpha.net/ORDO/Orphanet_102003 with label: Rare movement disorder
OBSOLETE: Heredodegenerative disease with dystonia as a major feature
Ehlers-Danlos syndrome
Infectious encephalitis
Postinfectious encephalitis
Chronic encephalitis
Neonatal epilepsy syndrome
Infantile epilepsy syndrome
Childhood-onset epilepsy syndrome
Adolescent-onset epilepsy syndrome
Progressive myoclonus epilepsy
Progressive myoclonic epilepsy
Monogenic obesity due to a leptin-melanocortin pathway anomaly
Genetic non-syndromic obesity
MPN
Myeloproliferative disorder
Myeloproliferative neoplasm
Myelodysplastic/myeloproliferative disease
AML with recurrent genetic anomaly
Acute myeloid leukemia with recurrent genetic anomaly
Plasma cell tumor
Histiocytic and dendritic cell tumor
Macrophage or histiocytic tumor
Dendritic cell tumor
Immunodeficiency-associated lymphoproliferative disease
Lymphoproliferative disease associated with primary immune disease
Mastocytosis
Hodgkin's disease
Hodgkin's lymphoma
Hodgkin lymphoma (HL) is a heterogeneous group of malignant lymphoid neoplasms of B-cell origin characterized histologically by the presence of Hodgkin and Reed-Sternberg (HRS) cells in the vast majority of cases.
Hodgkin lymphoma
ETRS
Embryonic testicular regression syndrome
TRS
Vanishing testes syndrome
Vanishing testis syndrome
XY gonadal agenesis syndrome
Testicular regression syndrome (TRS) is a developmental anomaly characterized by the absence of one or both testicles with partial or complete absence of testicular tissue. TRS may vary from normal male with unilateral no-palpable testis through phenotypic male with micropenis, to phenotypic female. The phenotype depends on the extent and timing of the intrauterine accident in relation to sexual development.
Testicular regression syndrome
Idiopathic interstitial pneumonia
Genetic lipodystrophy
FPLD
Familial partial lipodystrophy (FPLD) is a group of rare genetic lipodystrophic syndromes characterized, in most cases, by fat loss from the limbs and buttocks, from childhood or early adulthood, and often associated with acanthosis nigricans, insulin resistance, diabetes, hypertriglyceridemia and liver steatosis.
Familial partial lipodystrophy
Acquired lipodystrophy
use http://www.orpha.net/ORDO/Orphanet_98048 with label: Rare male infertility
OBSOLETE: Male infertility with impaired virilization
use http://www.orpha.net/ORDO/Orphanet_399572 with label: Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder
OBSOLETE: Male infertility with impaired virilization due to an hypothalamic or pituitary disorder
use http://www.orpha.net/ORDO/Orphanet_2965 with label: Prolactinoma
OBSOLETE: Male infertility with impaired virilization due to a hypothalamic and pituitary disorder associated with hyperprolactinemia
use http://www.orpha.net/ORDO/Orphanet_399685 with label: Rare male infertility due to testicular endocrine disorder
OBSOLETE: Male infertility with impaired virilization due to a testicular disorder
Male infertility due to testicular dysgenesis
Male infertility due to gonadal dysgenesis
OBSOLETE: Male infertility with impaired virilization due to an acquired testicular defect
OBSOLETE: Male infertility with impaired virilization due to a viral orchitis
OBSOLETE: Male infertility with impaired virilization due to an acquired testicular defect associated with trauma
OBSOLETE: Male infertility with impaired virilization due to an acquired testicular defect drug-related
OBSOLETE: Male infertility with impaired virilization due to an acquired testicular defect associated with an environmental toxin
OBSOLETE: Male infertility with impaired virilization due to an acquired testicular defect associated with autoimmunity
OBSOLETE: Male infertility with impaired virilization due to an acquired testicular defect associated with a granulomatous disease
OBSOLETE: Male infertility with impaired virilization due to a testicular disorder associated with a systemic disease
OBSOLETE: Male infertility with impaired virilization due to a testicular disorder associated with renal failure
OBSOLETE: Male infertility with impaired virilization due to a testicular disorder associated with a hepatic disease
OBSOLETE: Male infertility with impaired virilization due to a testicular disorder associated with a chronic illness
OBSOLETE: Male infertility with impaired virilization due to a testicular disorder associated with thyrotoxicosis
OBSOLETE: Male infertility with impaired virilization due to a testicular disorder associated with an immune disorder
OBSOLETE: Male infertility with impaired virilization due to a testicular disorder associated with a neurologic disease
OBSOLETE: Male infertility with normal virilization
OBSOLETE: Male infertility with normal virilization due to a hypothalamic or pituitary defect
OBSOLETE: Male infertility with normal virilization due to androgen administration
OBSOLETE: Male infertility with normal virilization due to a testicular defect
use http://www.orpha.net/ORDO/Orphanet_399764 with label: Male infertility due to gonadal dysgenesis or sperm disorder
OBSOLETE: Male infertility with normal virilization due to a developmental or structural testicular defect
OBSOLETE: Male infertility with normal virilization due to a developmental or structural testicular defect associated with cryptorchidism
OBSOLETE: Male infertility with normal virilization due to a developmental or structural testicular defect associated with varicocele
OBSOLETE: Male infertility with normal virilization due to an acquired testicular defect
OBSOLETE: Male infertility with normal virilization due to an acquired testicular defect associated with mycoplasma infection
OBSOLETE: Male infertility with normal virilization due to an acquired testicular defect associated with radiation
OBSOLETE: Male infertility with normal virilization due to an acquired testicular defect associated with drug
OBSOLETE: Male infertility with normal virilization due to an acquired testicular defect associated with environmental toxin
OBSOLETE: Male infertility with normal virilization due to acquired testicular defect associated with autoimmunity
OBSOLETE: Male infertility with normal virilization due to a systemic disease
OBSOLETE: Male infertility with normal virilization due to testicular defect associated with spinal cord injury
Male infertility due to impaired sperm transport
Male infertility due to obstructive azoospermia
Rare idiopathic male infertility
Autosomal dominant isolated diffuse palmoplantar hyperkeratosis
Autosomal dominant isolated diffuse palmoplantar keratoderma
Autosomal dominant disease with diffuse palmoplantar hyperkeratosis as a major feature
Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature
Autosomal dominant disease associated with focal palmoplantar hyperkeratosis as a major feature
Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature
Autosomal recessive isolated diffuse palmoplantar hyperkeratosis
Autosomal recessive isolated diffuse palmoplantar keratoderma
Autosomal recessive disease with focal palmoplantar hyperkeratosis as a major feature
Autosomal recessive disease with focal palmoplantar keratoderma as a major feature
Constitutional anemia due to iron metabolism disorder
Constitutional sideroblastic anemia
Rare hemolytic anemia
Rare constitutional hemolytic anemia due to a red cell membrane anomaly
Hereditary stomatocytic disease
Hereditary stomatocytosis
Constitutional hemolytic anemia due to acanthocytic disorder
Constitutional hemolytic anemia due to acanthocytosis
Rare constitutional hemolytic anemia due to an enzyme disorder
Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies
Hemolytic anemia due to a disorder of glycolytic enzymes
Hemolytic anemia due to an erythroenzymopathy
Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder
AHA
AIHA
Autoimmune hemolytic anemia (AIHA) is an autoimmune disorder in which various types of auto-antibodies are directed against red blood cells causing their survival to be shortened and resulting in hemolytic anemia.
Autoimmune hemolytic anemia
Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder
Pulmonary agenesis
Constitutional megaloblastic anemia due to folate metabolism disorder
Vitamin B12- and folate-independent constitutional megaloblastic anemia
Red cell aplasia
Polycythemia
Secondary erythrocytosis
Secondary polycythemia is an elevated absolute red blood cell mass caused by enhanced stimulation of red blood cell production by an otherwise normal erythroid lineage that may be congenital or acquired (congenital secondary polycythemia and acquired secondary polycythemia; see these terms).
Secondary polycythemia
Rare coagulation disorder
Hereditary combined deficiency of factors II, VII, IX and X
Combined vitamin K-dependent clotting factors deficiency (VKCFD) is a congenital bleeding disorder resulting from variably decreased levels of coagulation factors II, VII, IX and X, as well as natural anticoagulants protein C, protein S and protein Z.
Hereditary combined deficiency of vitamin K-dependent clotting factors
use http://www.orpha.net/ORDO/Orphanet_275729 with label: Rare hemorrhagic disorder due to a constitutional thrombocytopenia
Alpha granule disease
Delta granule disease
Dense granule disease
X-linked syndromic intellectual disability
Skeletal muscle disease
Muscular dystrophy
IMM
Idiopathic inflammatory myositis
Idiopathic inflammatory myopathy
Metabolic myopathy
Neuromuscular junction disease
Acquired neuromuscular junction disease
Genetic neuromuscular junction disease
Rare peripheral neuropathy
Genetic peripheral neuropathy
Anterior horn cell disease
Motor neuron disease
Genetic anterior horn cell disease
Genetic motor neuron disease
Acquired anterior horn cell disease
Acquired motor neuron disease
Malformation of the cerebellar vermis
Malformation of the cerebellar hemispheres
Cranial nerve and nuclear aplasia
Posterior fossa malformation
Cystic malformation of the posterior fossa
Pontoneocerebellar atrophy
Pontoneocerebllar hypoplasia
Nonsyndromic pontocerebellar hypoplasias (PCH) are a rare heterogeneous group of diseases characterized by hypoplasia and atrophy and/or early neurodegeneration of the cerebellum and pons. Eight subtypes named type 1-8 have been described (see these terms), generally inherited in an autosomal recessive pattern.
Non-syndromic pontocerebellar hypoplasia
Neurodegenerative disease with dementia
Frontotemporal degeneration with dementia
Ataxia with dementia
Early-onset ataxia with dementia
Late-onset ataxia with dementia
Infectious disease with dementia
Metabolic disease with dementia
Cerebral lipidosis with dementia
Rare cerebrovascular dementia
Developmental defect of the eye
use http://www.orpha.net/ORDO/Orphanet_98553 with label: Developmental defect of the eye
OBSOLETE: Major induction processes eye anomaly
Anophthalmia-microphthalmia syndrome
Microphthalmia-anophthalmia-coloboma
Syndromic aniridia
use http://www.orpha.net/ORDO/Orphanet_519266 with label: Rare disorder of the ocular adnexa
OBSOLETE: Rare palpebral, lacrimal system and conjunctival disease
Rare palpebral disorder
Congenital malformation of the eyelid
Cryptophthalmia
Microblepharon-ablephara syndrome
Eyelid border anomaly
Syndromic ankyloblepharon
Syndromic ankyloblepharon filiforme adnatum
Syndromic palpebral coloboma
Syndromic eyelid coloboma
Eyelids malposition disorder
Rare eyelid malposition disorder
use http://www.orpha.net/ORDO/Orphanet_519270 with label: Rare disorder with entropion
Congenital ectropion
Secondary ectropion
use http://www.orpha.net/ORDO/Orphanet_98560 with label: Rare palpebral disorder
use http://www.orpha.net/ORDO/Orphanet_98574 with label: Syndromic epicanthus
Syndromic epicanthus
Syndromic telecanthus
Malposition of external canthus
Syndromic outer canthal malposition
Rare disorder with ptosis
OBSOLETE: Congenital upper palpebral retraction
use http://www.orpha.net/ORDO/Orphanet_98586 with label: Pigmented palpebral tumor
Rare eyebrow/eyelashes anomaly
Rare eyebrow/eyelash disorder
use http://www.orpha.net/ORDO/Orphanet_79365 with label: Rare disorder with hypertrichosis
OBSOLETE: Eyebrow/eyelashes hypertrichosis
use http://www.orpha.net/ORDO/Orphanet_98594 with label: Rare eyebrow/eyelash disorder
OBSOLETE: Congenital absence of the eyebrow/eyelashes
OBSOLETE: Eyebrow/eyelashes structural anomaly
OBSOLETE: Eyebrow/eyelashes distichiasis
OBSOLETE: Eyebrow/eyelashes pigmentation anomaly
Rare lacrimal system disease
Rare disorder of the lacrimal apparatus
use http://www.orpha.net/ORDO/Orphanet_98602 with label: Rare disorder of the lacrimal apparatus
OBSOLETE: Secretory apparatus of the lacrimal system anomaly
Congenital alacrima
Excretory apparatus of the lacrimal system anomaly
Lacrimal drainage system anomaly
Urrets-Zavalia syndrome
Syndromic orbital border hypoplasia is a rare disorder observed in two families to date and characterized by agenesis of the orbital margin, varying defects of the lacrimal passages, hypoplasia of the palpebral skin and tarsal plates and atresia of the nasolacrimal duct.
Syndromic orbital border hypoplasia
OBSOLETE: Anomaly of the secretory and excretory apparatus of the lacrimal system
EEC syndrome and related syndrome
EEC syndrome and related disorder
Rare disorder with conjunctival involvement as a major feature
use http://www.orpha.net/ORDO/Orphanet_98610 with label: Rare disorder with conjunctival involvement as a major feature
OBSOLETE: Conjunctival hemangioma or hemolymphangioma
use http://www.orpha.net/ORDO/Orphanet_101950 with label: Rare eye tumor
OBSOLETE: Bulbar conjunctival dermoid or conjunctival dermolipoma
Rare refraction anomaly
Rare isolated myopia is a rare, genetic, refraction anomaly disorder characterized by non-syndromic severe myopia, which may be associated with cataract and vitreoretinal degeneration (retinal detachment) that may lead to blindness.
Rare isolated myopia
Rare hyperopia and astigmatism
Syndromic hyperopia
Syndromic keratoconus
Anterior corneal dystrophy
The superficial corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal epithelium and its basement membrane and the superficial corneal stroma, and variable effects on vision depending on the type of dystrophy.
Superficial corneal dystrophy
The stromal corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal stroma, and variable effects on vision depending on the type of dystrophy.
Stromal corneal dystrophy
Posterior corneal dystrophies refers to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal endothelium and Descemet membrane, and variable effects on vision depending on the type of dystrophy.
Posterior corneal dystrophy
Syndromic corneal dystrophy
Congenital malformation of the eye with glaucoma as a major feature
OBSOLETE: Glaucoma associated with neural crest cell migration anomaly
use http://www.orpha.net/ORDO/Orphanet_88632 with label: Anterior segment developmental anomaly
Anterior segment developmental anomaly without extraocular manifestation
Corneogoniodysgenesis
Corneodysgenesis
use http://www.orpha.net/ORDO/Orphanet_522580 with label: Secondary early-onset glaucoma of genetic origin
OBSOLETE: Secondary glaucoma due to a proliferation and differentiation anomaly
Rare disease with glaucoma as a major feature
Rare lens disease
Rare cataract
Rare disorder with lens opacification
Syndromic cataract
Chromosomal anomaly with cataract
Metabolic disease with cataract
use http://www.orpha.net/ORDO/Orphanet_98641 with label: Syndromic cataract
OBSOLETE: Cerebral disease with cataract
Renal disease with cataract
Musculoskeletal disease with cataract
Dentocutaneous disease with cataract
Craniofacial anomaly with cataract
Lens size anomaly
Lens position anomaly
Lens shape anomaly
Color-vision disease
Syndromic retinitis pigmentosa
Syndromic rod-cone dystrophy
OBSOLETE: Unclassified familial retinal dystrophy
OBSOLETE: Colobomatous and areolar dystrophy
OBSOLETE: Unclassified primitive or secondary maculopathy
Vitreoretinopathy
use http://www.orpha.net/ORDO/Orphanet_519327 with label: Syndromic vitreoretinopathy
OBSOLETE: Congenital vitreoretinal dysplasia
use http://www.orpha.net/ORDO/Orphanet_98668 with label: Vitreoretinopathy
Hereditary optic neuropathy
ADOA
DOA
Autosomal dominant optic atrophy
Autosomal dominant optic atrophy, Kjer type
Kjer optic atrophy
Optic atrophy type 1
Autosomal dominant optic atrophy (ADOA) is one of the most common forms of hereditary optic neuropathy (see this term) characterized by progressive bilateral visual loss during the first decade of life, associated with optic disc pallor, visual field and color vision defects.
Autosomal dominant optic atrophy, classic form
OBSOLETE: Autosomal recessive optic atrophy
Autosomal recessive nonsyndromic optic atrophy
Autosomal recessive isolated optic atrophy
OBSOLETE: Autosomal recessive syndromic optic atrophy
OBSOLETE: X-linked recessive optic atrophy
Rare disorder with strabismus
Syndrome with a symptomatic strabismus
Syndromic disorder with strabismus
Craniostenosis with strabismus
Rare oculomotor nerve disorder
Congenital CNIV palsy
Congenital fourth cranial nerve palsy
Congenital superior oblique palsy
Congenital trochlear nerve palsy
Supranuclear eye movement disorder
Oculomotor apraxia
use http://www.orpha.net/ORDO/Orphanet_98491 with label: Neuromuscular junction disease
OBSOLETE: Myasthenic syndrome with eye involvement
use http://www.orpha.net/ORDO/Orphanet_140653 with label: Neuro-ophthalmological disease
OBSOLETE: Nervous system anomaly with eye involvement
use http://www.orpha.net/ORDO/Orphanet_519341 with label: Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature
OBSOLETE: Spinocerebellar ataxia with oculomotor anomaly
OBSOLETE: Spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly
use http://www.orpha.net/ORDO/Orphanet_68346 with label: Rare genetic skin disease
OBSOLETE: Genodermatosis with ocular features
use http://www.orpha.net/ORDO/Orphanet_281085 with label: Inherited ichthyosis syndromic form
OBSOLETE: Genetic keratinization disorder associated with ocular features
OBSOLETE: Ichthyosis associated with ocular features
OBSOLETE: Syndromic ichthyosis associated with ocular features
use http://www.orpha.net/ORDO/Orphanet_79386 with label: Rare skin tumor or hamartoma
OBSOLETE: Phakomatosis with eye involvement
use http://www.orpha.net/ORDO/Orphanet_520814 with label: Rare disorder of the visual organs
OBSOLETE: Connective tissue disease with eye involvement
OBSOLETE: Disease with potential neoplastic degeneration associated with ocular features
use http://www.orpha.net/ORDO/Orphanet_2614 with label: Nail-patella syndrome
OBSOLETE: Onycho-patellar syndrome with eye involvement
Oculocutaneous or ocular albinism
use http://www.orpha.net/ORDO/Orphanet_79374 with label: Pigmentation anomaly of the skin
OBSOLETE: Pigmentation disorder with eye involvement, excluding albinism
OBSOLETE: Ectodermal malformation syndrome associated with ocular features
OBSOLETE: Metabolic disease associated with ocular features
OBSOLETE: Metabolic disease with corneal opacity
OBSOLETE: Metabolic disease with cataract
OBSOLETE: Metabolic disease with pigmentary retinitis
OBSOLETE: Metabolic disease with macular cherry-red spot
Uveitis
Heart position anomaly
Transposition of the great arteries and conotruncal cardiac anomaly
Aortic malformation
Pulmonary artery or pulmonary branch anomaly
Atrioventricular valve anomaly
Congenital tricuspid malformation
AVSD
Atrioventricular septal defect
Atrioventricular canal defect
Hypoplastic right-heart syndrome (HRHS) is a rare, cyanotic congenital heart malformation (see this term) caused by underdevelopment of the right-sided heart structures (tricuspid valve, RV, pulmonary valve, and pulmonary artery) commonly associated with an atrial septal defect, ostium secundum type (see this term). Pulmonary blood flow is diminished and right-to-left shunting occurs at the atrial level, leading to dyspnea, fatigue, atrial arrhythmias, right-sided heart failure, hypoxemia, repeated miscarriages that were mostly due to hypoxemia and cyanosis. Two subtypes of HRHS have been characterized: pulmonary atresia-intact ventricular septum and right ventricular hypoplasia (see these terms).
Hypoplastic right heart syndrome
Congenital aorta, aortic arch or pulmonary arteries anomaly
Congenital anomaly of the great arteries
Ascending aorta anomaly
use http://www.orpha.net/ORDO/Orphanet_98719 with label: Pulmonary artery or pulmonary branch anomaly
OBSOLETE: Pulmonary artery/pulmonary branch anomaly
Atrial defect and interauricular communication
Rare atrial defect and interatrial communication
Congenital pulmonary veins anomaly
use http://www.orpha.net/ORDO/Orphanet_1461 with label: Criss-cross heart
Congenital arteriovenous fistula
Noonan syndrome and Noonan-related syndrome
UPD(15)mat
Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
SCA1
Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities.
Spinocerebellar ataxia type 1
SCA2
Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea.
Spinocerebellar ataxia type 2
Azorean disease of the nervous system
MJD
Machado disease
Machado-Joseph disease
Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia
SCA3
Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most common subtype of type 1 autosomal dominant cerebellar ataxia (ADCA type 1; see this term), a neurodegenerative disorder, and is characterized by ataxia, external progressive ophthalmoplegia, and other neurological manifestations.
Spinocerebellar ataxia type 3
SCA6
Spinocerebellar ataxia type 6 (SCA6) is the most common subtype of autosomal dominant cerebellar ataxia type III (ADCA type III; see this term) characterized by late-onset and slowly progressive gait ataxia and other cerebellar signs such as impaired muscle coordination and nystagmus.
Spinocerebellar ataxia type 6
HDL4
Huntington disease-like 4
SCA17
Spinocerebellar ataxia type 17 (SCA17) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy.
Spinocerebellar ataxia type 17
SCA8
Spinocerebellar ataxia type 8 (SCA8) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by cerebellar ataxia and cognitive dysfunction in almost three quarters of patients and pyramidal and sensory signs in approximately a third of patients.
Spinocerebellar ataxia type 8
SCA10
Spinocerebellar ataxia type 10 (SCA10) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar syndrome and epilepsy, sometimes mild pyramidal signs, peripheral neuropathy and neuropsychological disturbances.
Spinocerebellar ataxia type 10
SCA12
Spinocerebellar ataxia type 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by the presence of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported.
Spinocerebellar ataxia type 12
SCA14
Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive ataxia, dysarthria and nystagmus.
Spinocerebellar ataxia type 14
Spinocerebellar ataxia type 27 (SCA27) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by early-onset tremor, dyskinesia, and slowly progressive cerebellar ataxia.
Spinocerebellar ataxia type 27
SCA4
Spinocerebellar ataxia type 4 (SCA4) is a very rare progressive and untreatable subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by ataxia with sensory neuropathy.
Spinocerebellar ataxia type 4
SCA5
Spinocerebellar ataxia type 5 (SCA5) is a rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III; see this term) characterized by the early-onset of cerebellar signs with eye movement abnormalities and a very slow disease progression.
Spinocerebellar ataxia type 5
SCA11
Spinocerebellar ataxia type 11 (SCA11) is a subtype of autosomal dominant cerebellar ataxia type III (ADCA type III; see this term) characterized by the early-onset of cerebellar signs, eye movement abnormalities and pyramidal signs.
Spinocerebellar ataxia type 11
SCA13
Spinocerebellar ataxia type 13 (SCA13) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by onset in childhood marked by delayed motor and cognitive development followed by mild progression of cerebellar ataxia.
Spinocerebellar ataxia type 13
SCA15/16
Spinocerebellar ataxia type 15/16 (SCA15/16) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia, tremor and cognitive impairment.
Spinocerebellar ataxia type 15/16
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_98769 with label: Spinocerebellar ataxia type 15/16
SCA18
Spinocerebellar ataxia type 18 (SCA18) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by sensory neuropathy and cerebellar ataxia.
Spinocerebellar ataxia type 18
SCA19/22
Spinocerebellar ataxia type 19 (SCA19) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by mild cerebellar ataxia, cognitive impairment, low scores on the Wisconsin Card Sorting Test measuring executive function, myoclonus, and postural tremor.
Spinocerebellar ataxia type 19/22
SCA21
Spinocerebellar ataxia type 21 (SCA21) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar ataxia, mild cognitive impairment, postural and/or resting tremor, bradykinesia, and rigidity.
Spinocerebellar ataxia type 21
ADNFLE
Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a seizure disorder characterized by intermittent dystonia and/or choreoathetoid movements that occur during sleep. The clusters of nocturnal motor seizures are often stereotyped and brief.
Autosomal dominant nocturnal frontal lobe epilepsy
ATR syndrome linked to chromosome 16
ATR syndrome, deletion type
ATR-16 syndrome
Alpha thalassemia-intellectual disability syndrome, deletion type
Alpha thalassemia-mental retardation syndrome
Alpha-thalassemia-intellectual deficit syndrome linked to chromosome 16 (ATR-16), a contiguous gene deletion syndrome, is a form of alpha-thalassemia (see this term) characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities.
Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16
Prader-Willi syndrome due to paternal 15q11q13 deletion
Angelman syndrome due to maternal monosomy 15q11q13
Angelman syndrome due to maternal 15q11q13 deletion
UPD(15)pat
Angelman syndrome due to paternal uniparental disomy of chromosome 15
Isochromosomy Yp is a rare gonosome anomaly characterized by various clinical presentations including normal healthy fertile males, male phenotype with infertility, and males with ambiguous genitalia or incomplete masculinization.
Isochromosomy Yp
Isochromosomy Yq is a rare gonosomy anomaly with a variable phenotype including a female phenotype with sexual development delay, streak gonads, short stature and Turner syndrome features and male phenotype with infertility due to azoospermia.
Isochromosomy Yq
Absent tibia-polydactyly syndrome
Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome is a rare, genetic dysostosis syndrome, with marked inter- and intra-familial variation, typically characterized by triphalangeal thumbs, hand and/or foot polysyndactyly and/or absent/hypoplastic tibiae (associated with duplication of fibulae in some cases), although isolated triphalangeal thumbs have also been reported. It is often accompanied with remarkable short stature and additional features may include radio-ulnar synostosis and hand oligodactyly, as well as abnormal carpal and metatarsal bones.
Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome
DYT4
Hereditary whispering dysphonia
DYT4 type primary dystonia is characterized by predominantly laryngeal dystonia (manifesting as whispering dysphonia) and cervical dystonia (manifesting as torticollis).
Primary dystonia, DYT4 type
DYT6
Generalized cervical and upper-limb-onset dystonia
Idiopathic torsion dystonia of mixed type
Primary dystonia DYT6 type is characterized by focal, predominantly cranio-cervical dystonia with dysarthria and dysphagia, or limb dystonia in some cases.
Primary dystonia, DYT6 type
DYT13
Primary dystonia with mixed phenotype
Primary torsion dystonia with predominant craniocervical or upper limb onset
DYT13 type primary dystonia is characterized by focal or segmental dystonia with cranial, cervical, or upper limb involvement.
Primary dystonia, DYT13 type
Autosomal dominant Segawa syndrome
GTPCH1-deficient DRD
GTPCH1-deficient dopa-responsive dystonia
HPD with marked diurnal fluctuation
Hereditary progressive dystonia with marked diurnal fluctuation
Autosomal dominant dopa-responsive dystonia (DYT5a) is a rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age.
Autosomal dominant dopa-responsive dystonia
Familial PKD
Familial paroxysmal kinesigenic dyskinesia
Paroxysmal kinesigenic choreathetosis
Paroxysmal kinesigenic dyskinesia (PKD) is a form of paroxysmal dyskinesia (see this term), characterized by recurrent brief involuntary hyperkinesias, such as choreoathetosis, ballism, athetosis or dystonia, triggered by sudden movements.
Paroxysmal kinesigenic dyskinesia
Paroxystic non-kinesigenic choreoathetosis
Paroxysmal non-kinesigenic dyskinesia (PNKD) is a form of paroxysmal dyskinesia (see this term), characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation.
Paroxysmal non-kinesigenic dyskinesia
Dystonia 18
PED
Paroxysmal exertion-induced dyskinesia (PED) is a form of paroxysmal dyskinesia (see this term), characterized by painless attacks of dystonia of the extremities triggered by prolonged physical activities.
Paroxysmal exertion-induced dyskinesia
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_98784 with label: Autosomal dominant nocturnal frontal lobe epilepsy
Anhidrotic ectodermal dysplasia with immunodeficiency
EDA-ID
HED-ID
Hypohidrotic ectodermal dysplasia with immunodeficiency (HED-ID) is a type of HED (see this term) characterized by the malformation of ectodermal structures such as skin, hair, teeth and sweat glands, and associated with immunodeficiency.
Hypohidrotic ectodermal dysplasia with immunodeficiency
Early-onset benign childhood occipital epilepsy
Panayiotopoulos syndrome
Benign childhood occipital epilepsy, Panayiotopoulos type is a rare, genetic neurological disorder characterized by late infancy to early-adolescence onset of prolonged, nocturnal seizures which begin with autonomic features (e.g. vomiting, pallor, sweating) and associate tonic eye deviation, impairment of consciousness and may evolve to a hemi-clonic or generalized convulsion. Autonomic status epilepticus may be the only clinical event in some cases.
Benign childhood occipital epilepsy, Panayiotopoulos type
Late-onset benign childhood occipital epilepsy
Benign childhood occipital epilepsy, Gastaut type is a rare, genetic neurological disorder characterized by childhood to mid-adolescence onset of frequent, brief, diurnal simple partial seizures which usually begin with visual hallucinations (e.g. phosphenes) and/or ictal blindness and may associate non visual seizures (such as deviation of the eyes, oculoclonic seizures), forced eyelid closure and blinking and sensory hallucinations. Post-ictal headache is common while impairment of consciousness is rare.
Benign childhood occipital epilepsy, Gastaut type
Acquired epileptic aphasia
LKS
Landau-Kleffner syndrome (LKS) is an age-related epileptic encephalopathy where developmental regression occurs mainly in the language domain and the electroencephalographic (EEG) abnormalities are mainly localized around the temporal-parietal regions. The term acquired epileptic aphasia describes the main features of this condition.
Landau-Kleffner syndrome
Familial temporal lobe epilepsy
FFEVF
Familial partial epilepsy with variable foci
Familial focal epilepsy with variable foci is a rare genetic epilepsy disorder characterized by autosomal dominant lesional and nonlesional focal epilepsy with variable penetrance. Focal seizures emanate from different cortical locations (temporal, frontal, centroparietal, parietal, parietaloccipital, occipital) in different family members, but for each individual a single focus remains constant throughout lifetime. Seizure type (tonic, tonic-clonic or hyperkinetic) and severity varies among family members and tends to decrease (but do not disappear) during adulthood. Many patients have an aura and show automatisms during diurnal seizures whereas others have nocturnal seizures. Most individuals are of normal intelligence but patients with intellectual disability, autistic spectrum disorder and obsessive-compulsive disorder have been described.
Familial focal epilepsy with variable foci
CMML
Chronic myelomonocytic leukemia
Subacute myeloid leukemia
Atypical chronic myeloid leukemia
Unclassified mixed myelodysplastic/myeloproliferatic syndrome
Unclassified myelodysplastic/myeloproliferative disease
Refractory cytopenias with unilineage dysplasia (RCUD) is a frequent low-risk subtype of myelodysplastic syndrome (MDS; see this term) characterized by refractory cytopenias associated with dysplasia limited to one cell lineage.
Refractory anemia
Unclassified myelodysplastic syndrome (MDS-U) is a subtype of myelodysplastic syndrome (MDS; see this term) with atypical features of uncertain clinical significance.
Unclassified myelodysplastic syndrome
AML with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)
Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)
AML with 11q23 abnormalities
Acute myeloid leukemia with 11q23 abnormalities is a tumor of hematopoietic and lymphoid tissues characterized by abnormal proliferation and differentiation of a clonal population of myeloid stem cells carrying unspecific 11q23 abnormalities. Clinical manifestations result from accumulation of malignant myeloid cells within the bone marrow, peripheral blood and other organs, and include leukocytosis, anemia, thrombocytopenia, fatigue, anorexia and weight loss.
Acute myeloid leukemia with 11q23 abnormalities
AML M0
Minimally differentiated acute myeloblastic leukemia
Acute myeloid leukemia with minimal differentiation is a rare subtype of acute myeloid leukemia characterized by clonal proliferation of poorly differentiated myeloid blasts in the bone marrow, blood or other tissues. It usually presents with anemia, thrombocytopenia and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). Low remission rates are reported.
Acute myeloid leukemia with minimal differentiation
AML M1
Acute myeloblastic leukemia M1
Acute myeloblastic leukemia without maturation is a rare, acute myeloid leukemia characterized by no significant myeloid maturation and more than 90% blast cells in the non-erythroid population. Various degrees of anemia, thrombocytopenia, or pancytopenia are present. Frequent clinical manifestations include fatigue, fever, bleeding disorders, and organomegaly, especially hepatosplenomegaly.
Acute myeloblastic leukemia without maturation
AML M2
Acute myeloblastic leukemia M2
Acute myeloblastic leukemia with maturation is a rare, acute myeloid leukemia characterized by evidence of granulocytic maturation and more than 20% of blast cells in the bone marrow and/or peripheral blood. The maturing non-blast granulocytic cells account for greater than or equal to 10% and monocytic cells less than or equal to 20% of the bone marrow cells. Various degrees of anemia, thrombocytopenia, or pancytopenia are present. Frequent clinical manifestations include fatigue, fever, bleeding disorders, and organomegaly, especially hepatosplenomegaly.
Acute myeloblastic leukemia with maturation
Acute myeloid leukemia, minimal differentiation, FAB M0
Acute undifferentiated leukemia is a rare acute leukemia of ambiguous lineage characterized by clonal proliferation of primitive hematopoietic cells, primarily in the bone marrow and blood, lacking lineage-specific markers and detectable genotypic alterations. The patients present with leukocytosis, anemia, variable platelet count and a variety of nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (lymphadenopathy, splenomegaly, hepatomegaly).
Acute undifferentiated leukemia
Bilineal acute leukemia
Acute biphenotypic leukemia is a rare, acute myeloid leukemia characterized by a single blast cells population expressing both myeloid and lymphoid immunophenotypic markers. Clinically, it present with fatigue, bleeding, and infection due to anemia, thrombocytopenia, low-functioning white cells, and general immune suppression that occurs with most leukemias.
Acute biphenotypic leukemia
Large cell lymphoma of the mediastinum
Med-DLBCL
Mediastinal diffuse large-cell lymphoma with sclerosis
Primary mediastinal clear cell lymphoma of B-cell type
Primary mediastinal B-cell lymphoma (PMBL) is a rare subtype of diffuse large B-cell lymphoma (DLBCL; see this term), arising from B cells of thymic origin, that affects mainly women between the ages of 20-30, that usually presents with a bulky and rapidly expanding anterior mediastinal mass, often with pleural and pericardial effusions, and that can invade the lungs, superior vena cava, pleura, pericardium, and chest wall, leading to manifestations of cough, dyspnea, and superior vena cava syndrome.
Primary mediastinal large B-cell lymphoma
Angioendotheliomatosis proliferans systemisata
Angiotropic large cell lymphoma
Intravascular lymphomatosis
Malignant angioendotheliomatosis
Tappeiner-Pfleger disease
Intravascular large B-cell lymphoma (IVLBCL) is a very rare form of diffuse large B-cell lymphoma (see this term) characterized by the selective growth of lymphoma cells within the lumina of small blood vessels (especially the capillaries) that most often presents with a wide range of clinical manifestations (as potentially any tissue can be involved), with patients from Western countries more frequently manifesting with neurological and cutaneous symptoms while patients from Asian countries more frequently displaying hepatosplenomegaly and thrombocytopenia. IVLBCL is characterized by an absence of lymphadenopathy, an aggressive clinical course and a poor prognosis.
Intravascular large B-cell lymphoma
ALCL
CD30 positive anaplastic large cell lymphoma
Ki-1 positive anaplastic large cell lymphoma
Primary systemic ALCL
sACL
Anaplastic large cell lymphoma (ALCL) is a rare and aggressive peripheral T-cell non-Hodgkin lymphoma, belonging to the group of CD30-positive lymphoproliferative disorders, which affects lymph nodes and extranodal sites. It is comprised of two sub-types, based on the expression of a protein called anaplastic lymphoma kinase (ALK): ALK positive and ALK negative ALCL (see these terms).
Anaplastic large cell lymphoma
LyP
Lymphomatoid papulosis (LyP) is a rare cutaneous condition characterized by chronic, recurrent, and self-regressing papulonodular skin eruptions. It belongs to the spectrum of primary cutaneous CD30+ lymphoproliferative disorders, along with primary cutaneous anaplastic large cell lymphoma (primary C-ALCL; see this term) with which it shares overlapping clinical and histopathologic features.
Lymphomatoid papulosis
Classic Hodgkin lymphoma, nodular sclerosis type
Classic Hodgkin lymphoma, mixed cellularity type
Classic Hodgkin lymphoma, lymphocyte-rich type
Classic Hodgkin lymphoma, lymphocyte-depleted type
Indolent systemic mastocytosis (ISM) is a benign form of systemic mastocytosis (SM; see this term) characterized by an abnormal proliferation of mast cells either only in bone marrow or in numerous tissues.
Indolent systemic mastocytosis
SM-AHN
SM-AHNMD
Systemic mastocytosis with associated hematologic neoplasm
Systemic mastocytosis with an associated clonal hematological non-mast cell lineage disease is a form of systemic mastocytosis (SM) associated with malignancy (other than mast cell leukemia).
Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease
Aggressive systemic mastocytosis (ASM) is a severe and rare form of systemic mastocytosis (SM) characterized by considerable infiltration of mast cells in different tissues.
Aggressive systemic mastocytosis
Mast cell leukemia is a malignant form of systemic mastocytosis (SM; see this term) characterized, most of the time, by the presence of circulating mast cells.
Mast cell leukemia
Desquamative interstitial pneumonia
EDMD2
Autosomal dominant Emery-Dreifuss muscular dystrophy
EDMD3
Autosomal recessive Emery-Dreifuss muscular dystrophy
AR-CMT2B1
Autosomal recessive Charcot-Marie-Tooth disease type 2B1
Autosomal recessive axonal CMT4C1
Charcot-Marie-Tooth disease, type 2B1 (CMT2B1, also referred to as CMT4C1) is an axonal CMT peripheral sensorimotor polyneuropathy.
Charcot-Marie-Tooth disease type 2B1
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_244 with label: Primary ciliary dyskinesia
Primary ciliary dyskinesia, Kartagener type
X-linked Emery-Dreifuss muscular dystrophy
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_288 with label: Hereditary elliptocytosis
use http://www.orpha.net/ORDO/Orphanet_288 with label: Hereditary elliptocytosis
Hereditary ovalocytosis
Melanesian elliptocytosis
Melanesian ovalocytosis
SAO
Stomatocytic elliptocytosis
Southeast Asian ovalocytosis (SAO) is a rare hereditary red cell membrane defect characterized by the presence of oval-shaped erythrocytes and with most patients being asymptomatic or occasionally manifesting with mild symptoms such as pallor, jaundice, anemia and gallstones.
Southeast Asian ovalocytosis
CDA I
CDA type 1
CDA type I
Congenital dyserythropoietic anemia type 1
Congenital dyserythropoietic anemiatype I (CDA I) is a hematologic disorder of erythropoiesis characterized by moderate to severe macrocytic anemia occasionally associated with limb or nail deformities and scoliosis.
Congenital dyserythropoietic anemia type I
CDA III
CDA type 3
CDA type III
Congenital dyserythropoietic anemia type 3
Congenital dyserythropoietic anemia type III (CDA III) is a rare form of CDA (see this term) characterized by dyserythropoiesis, with big multinucleated erythroblasts in the bone marrow, and manifesting with mild to moderate anemia.
Congenital dyserythropoietic anemia type III
Transient acquired pure red cell aplasia
Transient erythroblastopenia of childhood
Adult pure red cell aplasia is a rare acquired aplastic anemia characterized by a severe normocytic anemia with normal peripheral leukocyte and platelet counts, reticulocytopenia, high serum ferritin and transferrin saturation levels and isolated, almost complete absence of erythroblasts in the bone marrow with normal granulopoesis and megakaryopoesis. It presents with signs of severe anemia (fatigue, lethargy, pallor, intolerance of physical exercise and exertional dyspnea) in the absence of hemorrhagic symptoms.
Adult pure red cell aplasia
CDA II
CDA type 2
CDA type II
Congenital dyserythropoietic anemia type 2
Hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas)
SEC23B-CDG
Congenital dyserythropoietic anemia type II (CDA II) is the most common form of CDA (see this term) characterized by anemia, jaundice and splenomegaly and often leading to liver iron overload and gallstones.
Congenital dyserythropoietic anemia type II
Factor VIII deficiency
Hemophilia A is the most common form of hemophilia (see this term) characterized by spontaneous or prolonged hemorrhages due to factor VIII deficiency.
Hemophilia A
Factor IX deficiency
Hemophilia B is a form of hemophilia (see this term) characterized by spontaneous or prolonged hemorrhages due to factor IX deficiency.
Hemophilia B
Familial afibrinogenemia is a coagulation disorder characterized by bleeding symptoms due to a complete absence of circulating fibrinogen.
Familial afibrinogenemia
Familial dysfibrinogenemia is a coagulation disorder characterized by a bleeding tendency due to a functional anomaly of circulating fibrinogen.
Familial dysfibrinogenemia
Bleeding diathesis due to glycoprotein VI deficiency
Bleeding diathesis due to integrin alpha2-beta1 deficiency
Complex X-linked HSP
Complex X-linked SPG
Complicated X-linked HSP
Complicated X-linked SPG
X-linked complicated spastic paraplegia
X-linked complex spastic paraplegia
Bilateral perisylvian polymicrogyria
Non-Leber type optic atrophy with early-onset
OPA2
Optic atrophy type 2
Early-onset X-linked optic atrophy is a rare form of hereditary optic atrophy, seen in only 4 families to date, with an onset in early childhood, characterized by progressive loss of visual acuity, significant optic nerve pallor and occasionally additional neurological manifestations, with females being unaffected.
Early-onset X-linked optic atrophy
Periventricular nodular heterotopia (PNH) is a brain malformation, due to abnormal neuronal migration, in which a subset of neurons fails to migrate into the developing cerebral cortex and remains as nodules that line the ventricular surface. Classical PNH is a rare X-linked dominant disorder far more frequent in females who present normal intelligence to borderline intellectual deficit, epilepsy of variable severity and extra-central nervous system signs, especially cardiovascular defects or coagulopathy. The disorder is generally associated with prenatal lethality in males.
Periventricular nodular heterotopia
CMD1B
MDC1B
Congenital muscular dystrophy type 1B is a rare, genetic neuromuscular disorder characterized by proximal and symmetrical muscle weakness (particularly of neck, sternomastoid, facial and diaphragm muscles), spinal rigidity, joint contractures (Achilles tendon, elbows, hands), generalized muscle hypertrophy and early respiratory failure (usually in the first decade of life). Patients typically present delayed motor milestones and grossly elevated serum creatine kinase levels, and with disease progression, forced expiratory abdominal squeeze and nocturnal hypoventilation.
Congenital muscular dystrophy type 1B
Becker dystrophinopathy
Becker muscular dystrophy (BMD) is a neuromuscular disease characterized by progressive muscle wasting and weakness due to degeneration of skeletal, smooth and cardiac muscle.
Becker muscular dystrophy
DMD
Severe dystrophinopathy, Duchenne type
Duchenne muscular dystrophy (DMD) is a neuromuscular disease characterized by rapidly progressive muscle weakness and wasting due to degeneration of skeletal, smooth and cardiac muscle.
Duchenne muscular dystrophy
OPDM
Oculopharyngeal distal myopathy
Oculopharyngodistal myopathy is a rare, genetic neuromuscular disease characterized by progressive external ocular, facial and pharyngeal muscle weakness, leading to variable degrees of ptosis, ophthalmoparesis, facial muscle atrophy, dysarthria and dysphagia, as well as distal muscle weakness and atrophy of lower and upper extremities. Respiratory muscle involvement is common, but sensorineural hearing loss, asymmetrical extremity weakness and severe proximal weakness are rare.
Oculopharyngodistal myopathy
Aglossia-adactylia syndrome
Hanhart syndrome
Jussieu syndrome
Aglossia adactylia is characterized by the association of aglossia (absence of tongue), adactylia (absence of fingers or toes) and limb, craniofacial and other, less frequent malformations.
Hypoglossia-hypodactyly syndrome
Amish nemaline myopathy is a type of nemaline myopathy (NM; see this term) only observed in several families of the Amish community.
Amish nemaline myopathy
Actin myopathy
Congenital myopathy with excess of thin filaments
Congenital multicore myopathy with external ophthalmoplegia
NLSDI
Neutral lipid storage disease with ichthyosis
Dorfman-Chanarin disease
NLSDM
Neutral lipid storage disease with myopathy without ichthyosis
Triglyceride deposit cardiomyovasculopathy
Neutral lipid storage myopathy
Desmin-related myofibrillar myopathy
Desminopathy is a rare genetic skeletal muscle disease characterized by abnormal chimeric aggregates of desmin and other cytoskeletal proteins and granulofilamentous material at the ultrastructural level in muscle biopsies and variable clinical/ myopathological features, age of disease onset and rate of disease progression. Patients present with bilateral skeletal muscle weakness that starts in distal leg muscles and spreads proximally, sometimes involving trunk, neck flexors and facial muscles and often cardiomyopathy manifested by conduction blocks, arrhythmias, chronic heart failure, and sometimes tachyarrhythmia. Weakness eventually leads to wheelchair dependence. Respiratory insufficiency can be a major cause of disability and death, beginning with nocturnal hyperventilation with oxygen desaturation and progressing to daytime respiratory failure.
Desminopathy
CRYAB-related myofobrillar myopathy
Alpha-crystallinopathy
Distal myotilinopathy is a rare, late adult-onset myofibrillar myopathy characterized by progressive distal muscle weakness associated with peripheral neuropathy and hyporeflexia. Ambulation may be lost within a few years.
Distal myotilinopathy
ZASP-related myofibrillar myopathy
Late-onset distal myopathy, Markesbery-Griggs type is a rare, genetic, non-dystrophic myofibrillar myopathy disorder characterized by late-adult onset of distal and/or proximal limb muscle weakness with initial involvement of posterior lower leg muscles, medial gastrocnemius and soleus. Patients present with ankle weakness followed by weakness of finger and wrist extensors and later on of proximal muscles. Ambulation is usually preserved. Late-onset associated cardiomyopathy and/or neuropathy has been reported in a minority of cases.
Late-onset distal myopathy, Markesbery-Griggs type
Postsynaptic congenital myasthenic syndromes
Presynaptic congenital myasthenic syndromes
Synaptic congenital myasthenic syndromes
AIDP
Acute idiopathic demyelinating polyneuropathy
Acute inflammatory polyneuropathy
GBS, acute inflammatory demyelinating polyradiculoneuropathic form
Guillain-Barré syndrome, acute inflammatory demyelinating polyradiculoneuropathic form
Acute inflammatory demyelinating polyradiculoneuropathy (AIDP) is an inflammatory neuropathy belonging to the clinical spectrum of Guillain-Barré syndrome (GBS; see this term).
Acute inflammatory demyelinating polyradiculoneuropathy
AMSAN
Acute motor-sensory axonal GBS
Acute motor-sensory axonal Guillain-Barré syndrome
Acute motor-sensory axonal neuropathy (AMSAN) is a motor-sensory, axonal form of Guillain-Barré syndrome (GBS; see this term).
Acute motor and sensory axonal neuropathy
AMAN
Acute pure motor GBS
Acute pure motor Guillain-Barré syndrome
Acute motor axonal neuropathy (AMAN) is a pure motor axonal form of Guillain-Barré syndrome (GBS; see this term).
Acute motor axonal neuropathy
Cranial variant of GBS
Cranial variant of Guillain-Barré syndrome
Fisher syndrome
Miller-Fisher syndrome (MFS) is a rare cranial nerve variant of Guillain-Barré syndrome (GBS; see this term).
Miller-Fisher syndrome
Autosomal recessive distal spinal muscular atrophy type 1
Autosomal recessive spinal muscular atrophy with respiratory distress
Diaphragmatic spinal muscular atrophy
Distal hereditary motor neuropathy type 6
Distal-HMN type 6
SIANRF
Severe infantile axonal neuropathy with respiratory failure type 1
dHMN6
dSMA1
Spinal muscular atrophy with respiratory distress type 1 is a rare genetic motor neuron disease characterized by severe respiratory distress/respiratory failure in association with diaphragmatic eventration and palsy, as well as progressive, symmetrical, distal-to-proximal muscle weakness and atrophy (in lower limbs especially). Patients typically have a history of intrauterine growth retardation, low birth weight, feeble cry, weak suck and failure to thrive and present with inspiratory stridor, recurrent episodes of dyspnea or apnea, cyanosis and absent deep tendon reflexes. Kyphosis/scoliosis, foot deformities and joint contractures are frequently associated features.
Spinal muscular atrophy with respiratory distress type 1
Blake pouch cyst is a non-syndromic, usually benign, cystic malformation of the posterior fossa characterized by a midline outpouching of the superior medullary velum into the cisterna magna that results from failure of the rudimental fourth ventricular tela choroidea to regress during embryogenesis. Patients can be asymptomatic or present in childhood or adulthood with clinical manifestations of hydrocephalus, such as headache, hypotonia, vertigo, syncope, vomiting, blurred or double vision, nystagmus, papilledema, and delayed gait development.
Blake pouch cyst
use http://www.orpha.net/ORDO/Orphanet_102 with label: Multiple system atrophy
MSA, parkinsonian type
MSA-p
Multiple system atrophy, parkinsonian type (MSA-p) is a form of multiple system atrophy (MSA; see this term) with predominant parkinsonian features (bradykinesia, rigidity, irregular jerky postural tremor, and postural instability).
Multiple system atrophy, parkinsonian type
Huntington disease-like 2 (HDL2) is a severe neurodegenerative disorder considered part of the neuroacanthocytosis syndromes (see this term) characterized by a triad of movement, psychiatric, and cognitive abnormalities.
Huntington disease-like 2
MAC
Microphthalmia with colobomatous cyst
Microphthalmia-anophthalmia-coloboma syndrome
Colobomatous microphthalmia is a developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma.
Colobomatous microphthalmia
use http://www.orpha.net/ORDO/Orphanet_98976 with label: Congenital glaucoma
Coloboma of choroid and retina is a rare, genetic developmental defect during embryogenesis characterized by the partial absence of retinal pigment epithelium and choroid, most frequently located in the inferonasal quadrant. Patients usually present reduced vision and have an increased risk for retinal detachment. Other ocular anomalies (e.g. coloboma of iris, microcornea, nystagmus, strabismus, microphthalmos) are usually associated, however it may also be isolated.
Coloboma of choroid and retina
Coloboma of eye lens
Coloboma of iris
Coloboma of macula is a rare, non-syndromic developmental defect of the eye characterized by well-circumscribed, oval or rounded, usually unilateral, atrophic lesions of varying size presenting rudimentary or absent retina, choroid and sclera located at the macula leading to decreased vision and, on occasion, other symptoms (e.g. strabismus). It is usually isolated, but may also be associated with Down syndrome, skeletal or renal disorders.
Coloboma of macula
Coloboma of eyelid
Coloboma of optic papilla
Coloboma of optic disc is a rare, genetic, developmental defect of the eye characterized by a unilateral or bilateral, sharply demarcated, bowl-shaped, glistening white excavation on the optic disc (typically decentered inferiorly) which usually manifests with varying degrees of reduced visual acuity. It can occur isolated or may associate other ocular (e.g. retinal detachment, retinoschisis-like separation) or systemic anomalies (e.g. renal).
Coloboma of optic disc
Congenital symblepharon
Complete cryptophthalmia
Partial cryptophthalmia
Inverse Marcus-Gunn phenomenon is a rare congenital synkinesis where jaw opening by the pterygoid muscle (during eating or yawning) causes eyelid drooping from inhibition of the oculomotor nerve to the levator palpebrae superioris. Familial occurrence has been reported.
Inverse Marcus-Gunn phenomenon
Juvenile hereditary epithelial dystrophy of Meesmann
MECD
Meesmann corneal dystrophy (MECD) is a rare form of superficial corneal dystrophy characterized by distinct tiny bubble-like, round-to-oval punctate bilateral opacities in the central corneal epithelium, and to a lesser extent in the peripheral cornea, with little impact on vision.
Band-shaped and whorled microcystic dystrophy of the corneal epithelium
LECD
Lisch epithelial corneal dystrophy (LECD) is a very rare form of superficial corneal dystrophy characterized by feather-shaped opacities and microcysts in the corneal epithelium arranged in a band-shaped and sometimes whorled pattern, occasionally with impaired vision.
Lisch epithelial corneal dystrophy
Anterior basement membrane dystrophy
Cogan microcystic epithelial dystrophy
EBMD
Map-dot-fingerprint dystrophy
Epithelial basement membrane dystrophy
GDCD
Primary familial amyloidosis of the cornea
Subepithelial amyloidosis of the cornea
Gelatinous drop-like corneal dystrophy (GDCD) is a form of superficial corneal dystrophy characterized by multiple prominent milky-white gelatinous nodules beneath the corneal epithelium, and marked visual impairment.
Gelatinous drop-like corneal dystrophy
Honey-droplet corneal dystrophy
SMCD
Subepithelial mucinous corneal dystrophy (SMCD) is a very rare form of superficial corneal dystrophy characterized by frequent recurrent corneal erosions in the first decade of life, with progressive loss of vision.
Subepithelial mucinous corneal dystrophy
Anterior limiting membrane dystrophy type 2
Anterior limiting membrane dystrophy type II
Corneal dystrophy of Bowman layer type 2
Corneal dystrophy of Bowman layer type II
Curly fiber corneal dystrophy
Honeycomb corneal dystrophy
TBCD
Waardenburg-Jonker corneal dystrophy
Thiel-Behnke corneal dystrophy (TBCD) is a rare form of superficial corneal dystrophy characterized by sub-epithelial honeycomb-shaped corneal opacities in the superficial cornea, and progressive visual impairment.
Thiel-Behnke corneal dystrophy
Anterior limiting membrane dystrophy type 1
Anterior limiting membrane dystrophy type I
Atypical granular corneal dystrophy
Corneal dystrophy of Bowman layer type 1
Corneal dystrophy of Bowman layer type I
Geographic corneal dystrophy
Granular corneal dystrophy type 3
Granular corneal dystrophy type III
RBCD
Superficial granular corneal dystrophy
Reis-Bücklers corneal dystrophy (RBCD), also known as granular corneal dystrophy type III, is a rare form of superficial corneal dystrophy characterized by bilateral symmetrical reticular opacities in the superficial central cornea, with progressive visual impairment.
Reis-Bücklers corneal dystrophy
Classic GCD
Classic granular corneal dystrophy
Corneal dystrophy Groenouw type I
GCD1
GCDI
Granular corneal dystrophy type 1
Type I granular corneal dystrophy (GCDI) is a rare form of stromal corneal dystrophy (see this term) characterized by multiple small deposits in the superficial central corneal stroma, and progressive visual impairment, which may sometimes be severe.
Granular corneal dystrophy type I
Avellino corneal dystrophy
GCD2
GCDII
Granular corneal dystrophy type 2
Granular-lattice corneal dystrophy
Type II granular corneal dystrophy (GCDII) is a rare form of stromal corneal dystrophy (see this term) characterized by irregular-shaped well-demarcated granular deposits in the superficial central corneal stroma, and progressive visual impairment.
Granular corneal dystrophy type II
Biber-Haab-Dimmer dystrophy
Classic lattice corneal dystrophy
LCD1
LCDI
Lattice corneal dystrophy type 1
Type I lattice corneal dystrophy (LCDI) is a frequent form of stromal corneal dystrophy (see this term) characterized by a network of delicate interdigitating branching filamentous opacities within the cornea with progressive visual impairment and no systemic manifestations.
Lattice corneal dystrophy type I
Crystalline stromal dystrophy
Hereditary crystalline stromal dystrophy of Schnyder
SCCD
Schnyder crystalline corneal dystrophy
Schnyder crystalline dystrophy sine crystals
Schnyder corneal dystrophy (SCD) is a rare form of stromal corneal dystrophy (see this term) characterized by corneal clouding or crystals within the corneal stroma, and a progressive decrease in visual acuity.
Schnyder corneal dystrophy
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_98967 with label: Schnyder corneal dystrophy
Corneal dystrophy Groenouw type II
Fehr corneal dystrophy
Macular corneal dystrophy (MCD) is a rare, severe form of stromal corneal dystrophy (see this term) characterized by bilateral ill-defined cloudy regions within a hazy stroma, and eventually severe visual impairment.
Macular corneal dystrophy
FCD
François-Neetens speckled corneal dystrophy
Fleck corneal dystrophy (FCD) is a rare generally asymptomatic form of stromal corneal dystrophy (see this term) characterized by multiple asymptomatic, non-progressive opacities disseminated throughout the corneal stroma with no effect on visual acuity.
Fleck corneal dystrophy
PACD
Posterior amorphous stromal dystrophy
Posterior amorphous corneal dystrophy (PACD) is a very rare form of stromal corneal dystrophy (see this term) characterized by irregular amorphous sheet-like opacities in the posterior corneal stroma and in Descemet membrane and mildly impaired vision.
Posterior amorphous corneal dystrophy
CCDF
Central cloudy corneal dystrophy of François
Central cloudy dystrophy of François is a very rare form of stromal corneal dystrophy (see this term) characterized by polygonal or rounded stromal opacities surrounded by clear tissue, and generally no effect on vision.
Central cloudy dystrophy of François
Posterior polymorphous dystrophy
Schlichting dystrophy
Posterior polymorphous corneal dystrophy (PPCD) is a rare mild subtype of posterior corneal dystrophy (see this term) characterized by small aggregates of apparent vesicles bordered by a gray haze at the level of Descemet membrane, generally with no effect on vision.
Posterior polymorphous corneal dystrophy
Endoepithelial corneal dystrophy
FECD
Late hereditary endothelial dystrophy
Fuchs endothelial corneal dystrophy (FECD) is the most frequent form of posterior corneal dystrophy (see this term) and is characterized by excrescences on a thickened Descemet membrane (corneal guttae), generalized corneal edema, with gradually decreased visual acuity.
Fuchs endothelial corneal dystrophy
Autosomal dominant CHED
Autosomal dominant congenital hereditary endothelial dystrophy
CHED1
CHEDI
Congenital hereditary endothelial dystrophy type 1
Congenital hereditary endothelial dystrophy I (CHED I) is a rare subtype of posterior corneal dystrophy (see this term) characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth or infancy without nystagmus, with blurred vision.
Congenital hereditary endothelial dystrophy type I
Buphthalmia
Buphthalmos
Buphthalmus
Primary congenital glaucoma
Congenital glaucoma (CG) is a developmental glaucoma that results from the abnormal development of the aqueous drainage structure, characterized by an elevated intra-ocular pressure, enlargement of globe (buphthalmos), corneal edema and optic nerve cupping, and presenting clinically with the characteristic triad of epiphora, photophobia and blepharospasm.
Congenital glaucoma
Juvenile glaucoma (JG) is a rare autosomal dominant open angle glaucoma, characterized by early onset, severe elevation of intra ocular pressure of rapid progression, leading to optic nerve excavation and, when untreated, substantial visual impairment.
Juvenile glaucoma
Axenfeld's anomaly is a rare congenital ocular defect caused by anterior segment dysgenesis and is characterized by anteriorly displaced Schwalbes line and iris bands extending into the cornea. In contrast, Riegers anomaly (see this term) includes characteristic iris and pupil anomalies.
Axenfeld anomaly
Chandler syndrome, the most frequent clinical variant of iridocorneal endothelial (ICE) syndrome (see this term), is characterized by very few iris abnormalities but more severe corneal edema and less severe secondary glaucoma than seen in the other two ICE syndrome variants: Cogan-Reese syndrome and essential iris atrophy (see these terms).
Chandler syndrome
Cogan-Reese syndrome is a clinical variant of iridocorneal endothelial (ICE) syndrome (see this term) characterized by variable iris atrophy, pigmented and pedunculated nodules on the iris and corneal abonormalities. Secondary glaucoma is also a common complication of the disease.
Cogan-Reese syndrome
Essential iris atrophy is a clinical variant of iridocorneal endothelial (ICE) syndrome (see this term), characterized by progressive iris atrophy and holes present on the surface of the iris, corneal edema, corectopia, uveal ectropion and anterior synechiae. Secondary glaucoma is also a common complication of the disease.
Essential iris atrophy
OBSOLETE: Congenital cataract, Volkmann type
Coppock-like cataract
Dusty cataract
Pulverulent cataract
Early-onset cataract with Y-shaped suture opacities
Early-onset sutural cataract
use http://www.orpha.net/ORDO/Orphanet_98984 with label: Pulverulent cataract
Early-onset anterior subcapsular cataract
Early-onset anterior polar cataract
Blue-dot cataract
Cerulean cataract is a type of hereditary congenital cataract distinguished by bluish and white opacifications in the superficial layers of the fetal lens nucleus and adult lens nucleus and characterized by reduced visual acuity in childhood, eventually necessitating extraction of the lens.
Cerulean cataract
Coralliform cataract
Early-onset nuclear cataract
Early-onset partial cataract
Early-onset posterior polar cataract
Total early-onset cataract
Early-onset zonular cataract
Autosomal dominant spinocerebellar ataxia
Autosomal dominant cerebellar ataxia (ADCA) describes a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1). In ACDA type 4, a cerebellar syndrome is associated with epilepsy.
Autosomal dominant cerebellar ataxia
Agnathia-holoprosencephaly-situs inversus syndrome is an extremely rare and fatal association syndrome, characterized by absence of the mandible, cerebral malformations with facial anomalies related to a defect in cleavage in the embryonic brain (e.g. synophthalmia, malformed and low-set ears fused in midline (otocephaly), agenesis of the olfactory bulbs, microstomia, hypoglossia/aglossia) and situs inversus partialis or totalis.
Agnathia-holoprosencephaly-situs inversus syndrome
AOFMD
AVMD
Adult-onset foveomacular dystrophy
Adult-onset foveomacular dystrophy with choroidal neovascularization
Adult-onset vitelliform macular dystrophy
Gass disease
Pseudo-Best disease
Pseudo-vitelliform macular dystrophy
Adult-onset foveomacular vitelliform dystrophy (AOFVD) is a genetic macular dystrophy characterized by blurred vision, metamorphopsia and mild visual impairment secondary to a slightly elevated, yellow, egg yolk-like lesion located in the foveal or parafoveal region.
Adult-onset foveomacular vitelliform dystrophy
Butterfly-shaped pattern dystrophy
Butterfly-shaped pigmentary macular dystrophy
Butterfly-shaped pigment dystrophy is a patterned dystrophy of the retinal pigment epithelium (see this term) characterized by abnormal accumulation of lipofuscin in a butterfly-shaped distribution at the retinal pigment epithelium level. Patients manifest with a slowly progressive loss of vision that often only becomes apparent in old age.
Butterfly-shaped pigment dystrophy
Reticular dystrophy of the retinal pigment epithelium is a patterned dystrophy of the retinal pigment epithelium (see this term), of progressive course, characterized by the presence of a bilateral hyperpigmented reticular pattern resembling a fishnet with knots, resulting in a slowly progressive loss of vision that often only becomes apparent in old age. Reticular dystrophy of the retinal pigment epithelium is sometimes associated with scleral staphyloma, choroidal neovascularization, convergent strabismus, spherophakia with myopia and luxated lenses, and partial atrophy of the iris.
Reticular dystrophy of the retinal pigment epithelium
Multifocal pattern dystrophy simulating Stargardt disease
Multifocal pattern dystrophy simulating fundus flavimaculatus is a patterned dystrophy of the retinal pigment epithelium (see this term) characterized by multiple yellowish irregular flecks scattered or interconnected around the macula, simulating what is observed in Stargardt disease (see this term), and usually asymptomatic until adulthood when patients present with a slowly progressive loss of vision that often only becomes apparent in old age.
Multifocal pattern dystrophy simulating fundus flavimaculatus
Fundus pulverulentus is a rare form of patterned dystrophy of the retinal pigment epithelium characterized by a granular appearance in the macula, with coarse and punctiform mottling of the retinal pigment epithelium within the macular region. Association with choroidal neovascularization has been reported.
Fundus pulverulentus
OBSOLETE: Autosomal recessive optic atrophy, OPA6 type
SPG7
Autosomal recessive spastic paraplegia type 7 is a form of hereditary spastic paraplegia (see this term) characterized by an onset usually in adulthood (but ranging from 10-72 years) of progressive bilateral lower limb weakness and spasticity, sphincter dysfunction, decreased vibratory sense at the ankles and with additional manifestations including optical neuropathy, nystagmus, strabismus, decreased hearing, scoliosis, pes cavus, motor and sensory neuropathy, amyotrophy, blepharoptosis and ophthalmoplegia.
Spastic paraplegia type 7
CMT5X
X-linked Charcot-Marie-Tooth disease type 5 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infancy- to childhood-onset of: 1) progressive distal muscle weakness and atrophy (first appearing and more prominent in the lower extremities than the upper) which usually manifests with foot drop and gait disturbance, 2) bilateral, profound, prelingual sensorineural hearing loss and 3) progressive optic neuropathy. Females are asymptomatic and do not display the phenotype.
X-linked Charcot-Marie-Tooth disease type 5
SPG2
Spastic gait type 2
Spastic paraparesis type 2
X-linked spastic paraplegia type 2
Spastic paraplegia type 2 (SPG2) is an X-linked leukodystrophy characterized primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred to as complicated SPG.
Spastic paraplegia type 2
Niemann-Pick disease, type E is a poorly defined adult-onset and non-neuronopathic form of Niemann-Pick disease.
Niemann-Pick disease type E
ADLD
Adult-onset autosomal dominant demyelinating leukodystrophy
Adult-onset autosomal dominant leukodystrophy (ADLD) is a rare slowly progressive neurological disorder involving centralnervous systemdemyelination, leading to autonomic dysfunction,ataxia and mild cognitive impairment.
Adult-onset autosomal dominant leukodystrophy
Congenitally uncorrected transposition of the great vessels with coarctation
TGA with coarctation
Congenitally uncorrected transposition of the great arteries with coarctation
DORV with subaortic or doubly committed VSD with pulmonary stenosis
DORV, Fallot type
Double outlet right ventricle, Fallot type
Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_423693 with label: Double outlet right ventricle with subaortic or doubly committed ventricular septal defect
Double outlet right ventricle with subaortic ventricular septal defect
DORV with subpulmonary VSD
DORV-TGA
Double outlet right ventricle with transposition of the great arteries
Taussig-Bing syndrome
Double outlet right ventricle with subpulmonary ventricular septal defect
DORV with non-committed subpulmonary VSD
Double outlet right ventricle with non-committed subpulmonary ventricular septal defect
Double outlet right ventricle with doubly committed ventricular septal defect
APV/PDA, non-Fallot type
Absence of pulmonary valve-ventricular septal defect-persistent ductus arteriosus syndrome
PVA/PDA, non-Fallot type
Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome
Pulmonary artery coming from patent ductus arteriosus is a rare, congenital, non-syndromic heart malformation characterized by the presence of a single (or a double) patent ductus arteriosus which associates one or both pulmonary arteries originating from it. Manifestations are variable, frequently presenting with neonatal cyanosis, severe progressive hypoxia, persistent pulmonary hypertension, increased susceptibility to pulmonary infections, and thoracic asymmetry resulting from asymmetric lung volumes.
Pulmonary artery coming from patent ductus arteriosus
Abnormal origin of right or left pulmonary artery from the aorta
Hemitruncus arteriosus
Pulmonary artery coming from the aorta (PACA) is a cardiac malformation characterized by anomalous origin of one branch of the pulmonary arteries from the ascending aorta and a normal origin of the other pulmonary artery from the right ventricular outflow tract, and presenting with respiratory distress, congestive heart failure and failure to thrive within the first days/months of life.
Pulmonary artery coming from the aorta
Discrete fixed membranous subaortic stenosis
Discrete fibromuscular subaortic stenosis
Tunnel subaortic stenosis
Valvular pulmonary stenosis
Congenital anomaly of tricuspid chordae tendineae
Congenital anomaly of tricuspid tendinous chords
Anomaly of the tricuspid valve chordae is a rare, congenital anomaly of the tricuspid subvalvular apparatus characterized by aberrant tendinous chords, which insert at the clear zone of the leaflet instead of its free edge and connect to the endocardium instead of the papillary muscles. Resulting tethering of one or more tricuspid leaflets leads to their impaired mobility and tricuspid regurgitation. Association with other congenital cardiac anomalies has been reported.
Congenital anomaly of the tricuspid valve chordae
Parachute tricuspid valve is a rare congenital heart malformation defined as an insertion of the chordal apparatus into a single papillary muscle or a muscle group, making a pathognomonic 'pear' shape sign in the four-chamber echocardiographic view with the atrium forming the larger base of the pear and the leaflets the apex. Isolated parachute tricuspid valve may be asymptomatic or present with symptoms of tricuspid stenosis (diastolic inspiratory murmur, pulsation of jugular veins, hepatomegaly, edema, epigastric discomfort, right atrial enlargement, right ventricular hypertrophy, electrocardiography abnormalities). It may also be associated with other heart malformations and present with symptoms of the complex of malformations.
Parachute tricuspid valve
Congenital mitral stenosis is a congenital heart malformation comprising a spectrum of morphologically heterogeneous developmental anomalies that result in functional and anatomic obstruction of inflow into the left ventricle. The structure of the mitral valve is affected at the level of the supravalvular ring, annulus, leaflets or subvalvar copmponents and include supra-valvular ring, leaflet fusion (intra-leaflet ring), mitral parachute deformity and papillary muscle abnormalities. It may be isolated or associated with other heart malformations. The clinical presentation depends on the degree of obstruction, the presence of regurgitation, the presence and severity of associated pulmonary hypertension, and the presence of associated heart malformations. It may present with symptoms and signs of low cardiac output and right ventricular failure such as pulmonary infections, failure to thrive, exertional dyspnoea, cough, cyanosis and congestive heart failure.
Congenital mitral stenosis
Hypoplasia of the mitral valve annulus is a rare, congenital, mitral valve malformation characterized by hypoplastic annulus which usually appears within a complete mitral valve hypoplasia, causing mitral valve stenosis. Association with other cardiac malformation is common, including coarctation of the aorta, aortic valve stenosis, Shone complex and hypoplastic left heart syndrome.
Hypoplasia of the mitral valve annulus
Congenital supravalvular mitral ring is a rare, congenital, mitral valve malformation characterized by an abnormal ridge of the connective tissue on the atrial side of the mitral valve, which can present clinically with signs and symptoms of left ventricle inflow obstruction (dyspnea, tachypnea, pulmonary hypertension, right ventricle hypertrophy, pulmonary edema). Association with other mitral valve anomalies, aortic stenosis, ventricular septal defect, patent ductus arteriosus, double-outlet right ventricle, pulmonary hypertension, and Shone complex has been reported.
Congenital supravalvular mitral ring
Congenital unguarded mitral orifice is a rare, congenital, mitral valve malformation characterized by complete absence of mitral valve leaflets and tensor apparatus at the mitral annulus, which can present clinically with cyanosis, heart murmur, electrocardiogram abnormalities, mild cardiomegaly, or congestive heart failure. Association with heterotaxy, discordant atrioventricular connections, double-outlet right ventricle, pulmonary atresia or stenosis, thin left ventricular wall, and hypoplastic left heart syndrome has been reported.
Congenital unguarded mitral orifice
Accessory mitral valve tissue is a congenital non-syndromic heart malformation defined as an accessory mitral valve leaflet or various accessory mitral valve structures. It may be asymptomatic or present at various ages with symptoms of left ventricular outflow tract obstruction, low cardiac output due to subaortic obstruction or congestive heart failure. In some cases, it may be a source of cardioembolism. The malformation may be isolated or associated with other congenital heart malformations.
Accessory mitral valve tissue
Mitral valve agenesis is a rare congenital heart malformation defined as an agenesis or severe hypoplasia of both mitral valve leaflets (complete agenesis) or one of the leaflets (partial agenesis). Complete mitral valve agenesis presents in the neonatal period with symptoms of severe mitral regurgitation and is rapidly fatal unless surgically treated. It is frequently associated with other heart malformations. Partial mitral valve agenesis may present at various ages, usually with symptoms of mitral regurgitation.
Mitral valve agenesis
Shone complex is a rare congenital cardiac malformation characterized by a complex of four obstructive lesions of the left heart: supravalvular mitral membrane, parachute mitral valve, muscular or membranous subvalvular aortic stenosis and coarctation of aorta. Clinical manifestations include heart murmur, shortness of breath and increased load intolerance, left ventricular hypertrophy and dilatation of the left atrium. Partial forms, involving only two or three out of the four specific anomalies, are also described and occasionally other cardiovascular anomalies (e.g. bicuspid aortic valve, patent ductus arteriosus, ventricular septal defect) may be associated.
Shone complex
Straddling and/or overriding mitral valve
CAVC-left heart obstruction syndrome
Complete atrioventricular canal-left heart obstruction syndrome
CAVC-ventricle hypoplasia syndrome
Complete atrioventricular canal-ventricle hypoplasia syndrome
CAVC-Fallot tetralogy syndrome
Complete atrioventricular canal-tetralogy of Fallot syndrome
Univentricular heart with single atrio-ventricular valve
Aorto-right ventricular tunnel
Aorto-left ventricular tunnel
Congenital patent ductus arteriosus aneurysm is a rare, congenital, arterial duct anomaly characterized by a saccular dilatation of the ductus arteriosus. It is often asymptomatic or presents shortly after birth with respiratory distress, stridor, cyanosis and/or weak cry. Complications, such as rupture, thromboembolism, infection, airway erosion and/or compression of the adjacent thoracic structures, can develop. Spontaneous resolution has been reported.
Congenital patent ductus arteriosus aneurysm
Encircling double aortic arch is a very rare congenital anomaly of the great arteries characterized by the presence of two aortic arches (right and left) which encircle and compress the trachea and esophagus, resulting in various respiratory and gastrointestinal symptoms (e.g. harsh breathing, stridor, dyspnea, cyanotic and choking episodes, chronic cough, recurrent respiratory tract infections, dysphagia and reflux). Esophageal atresia and tracheoesophageal fistula have also been reported. It usually occurs isolated, but, on occasion, may be associated with other congenital heart anomalies and chromosomal aberations.
Encircling double aortic arch
Persistent fifth aortic arch
Kommerell diverticulum (KD) is a developmental anomaly of the aortic arch characterized by a diverticulum at the proximal descending aorta of left or right arch configuration that gives rise to an aberrant subclavian artery. KD is primarily asymptomatic but may become symptomatic secondary to dilatation of KD, atheroma and fibrotic changes in paratracheal or paraesophageal tissue, presenting with signs of tracheal compression (more common in children), esophageal compression (dysphagia lusoria; more common in patients with a right sided aortic arch), chest pain, or blood pressure difference in the upper limbs. KD may also predispose toward aortic dissection or rupture.
Kommerell diverticulum
Neuhauser anomaly is a rare cardiovascular morphological anomaly due to maldevelopment of embryonal aorta resulting in right aortic arch and left ligamentum arteriosum characterized by tracheoesophageal compression symptoms (stridor, dyspnea, dysphagia, apnoeic episodes, recurrent respiratory infections).
Neuhauser anomaly
Cervical aortic arch
Right aortic arch
Dysphagia lusoria
Pulmonary artery hypoplasia
Branch pulmonary artery stenosis
Pulmonary branch stenosis
Peripheral pulmonary stenosis is a rare congenital anomaly of the great arteries that may occur at single or multiple sites, in isolation or in association with other congenital heart defects (valvular pulmonary stenosis, atrial, or ventricular septal defects or tetralogy of Fallot) and genetic syndromes (Williams, Alagile syndrome). Clinical presentation is variable and includes heart murmurs, dyspnea, syncope, chest pain and pulmonary hypertension-associated symptoms.
Peripheral pulmonary stenosis
Coronary artery intramyocardial course
Aortopulmonary coronary arterial course is a rare coronary artery congenital malformation characterized by anomalous origin of the coronary artery from the contralateral sinus of Valsalva with course between the aorta and the pulmonary artery. The anomaly is associated with increased risk of sudden cardiac death, especially during exercise.
Aortopulmonary coronary arterial course
Coronary ostial stenosis or atresia
Congenital stenosis or atresia of the coronary ostium is a rare coronary artery congenital malformation characterized by congenital, partial or total occlusion of the left or right coronary artery orifice, associated with hypoplasia of the proximal segment of the corresponding coronary artery. It may present with failure to thrive, dyspnea, syncope, angina pectoris, ventricular tachycardia, myocardial ischemia and/or sudden death.
Congenital stenosis or atresia of the coronary ostium
Intramural coronary arterial course is a rare coronary artery congenital malformation disorder characterized by an atypical course of a coronary artery (usually proximal left anterior descending artery) in which, for a variable length, the artery runs intramyocardally. Depending on the artery and length of segment involved, patients may be asymptomatic or may present variable manifestations ranging from atypical angina to sudden death.
Intramural coronary arterial course
Abnormal number of coronary ostia is a rare congenital non-syndromic heart malformation characterized by more or less than one coronary ostium at the left and at the right aortic sinus of Valsalva. It may be asymptomatic or it leads to myocardial ischemia and technical difficulties during coronary angiography.
Abnormal number of coronary ostia
Malposition of the coronary ostium is a rare coronary artery congenital malformation characterized by displacement of one of the coronary arteries, originating closer to the aortic root or to the commissural area. The anomaly is considered to be asymptomatic, however, it may impose surgical difficulties during aortic root surgery.
Malposition of the coronary ostium
Interventricular septum aneurysm is a rare, non-syndromic, congenital heart malformation characterized by the presence of a congenital aneurysm of the membranous portion of the interventricular septum. Patients may be asymptomatic or may present with ventricular or supraventricular tachycardia, fatigue, exertional dyspnea, palpitations, and cardiac murmur. Ventricular septal defects and conduction defects, such as first-degree atrio-ventricular block or incomplete right bundle branch block, may also be also associated.
Interventricular septum aneurysm
VSD with aortic insufficiency
Ventricular septal defect with aortic insufficiency
Laubry-Pezzi syndrome is a rare, non-syndromic, congenital heart malformation characterized by the prolapse of an aortic valve cusp into a subjacent ventricular septal defect due to Venturi effect, resulting in aortic regurgitation. Patients typically present with symptoms of progressive aortic valve insufficiency, such as shortness of breath, heart palpitations, chest pain and exercise intolerance.
Laubry-Pezzi syndrome
Left ventricular-to-right atrial communication
Congenital Gerbode defect
OBSOLETE: Multiple ventricular septal defects
OBSOLETE: Single ventricular septal defect
Cor triatriatum dextrum
Divided right atrium
Cor triatriatum dexter
Cor triatriatum sinistrum
Divided left atrium
Cor triatriatum sinister
Pulmonary hypoplasia-agonadism-dextrocardia-diaphragmatic hernia syndrome
PAGOD syndrome is a severe developmental syndrome characterized by multiple congenital anomalies including cardiovascular defects, pulmonary hypoplasia, diaphragmatic defects and genital anomalies.
PAGOD syndrome
Juxtaposition of the atrial auricles
Juxtaposition of the atrial appendages is a rare atrial appendage anomaly when both appendages are located on the left or the right side of the great arteries. It is asymptomatic and is usually diagnosed incidentally, but is frequently associated with other congenital heart diseases.
Juxtaposition of the atrial appendages
Dilatation of the right atrial appendage
Dilatation of the right atrial auricle
Ectasia of the right atrial auricle
Ectasia of the right atrial appendage is a rare cardiac malformation characterized by the enlargement of the right auricle without any other associated cardiac lesions. It can be asymptomatic and diagnosed fortuitously, prenatally or during routine clinical examinations or it can present with heart murmur, palpitation, atrial arrhythmia, fatigue, dyspnea or respiratory distress.
Ectasia of the right atrial appendage
Dilatation of the left atrial appendage
Dilatation of the left auricle
Ectasia of the left auricle
Ectasia of the left atrial appendage is a rare cardiac malformation characterized by the enlargement of the left auricle without any other associated cardiac lesions. It can be asymptomatic (discovered fortuitously during routine chest imaging as an unusual cardiac shadow) or present clinically with supraventricular tachyarrhythmia, paroxysmal tachycardia, embolic events, respiratory distress, chest pain, angina pectoris or heart failure.
Ectasia of the left atrial appendage
ASD, ostium secundum type
Atrial septal defect, ostium secundum type
ASD, coronary sinus type
Unroofed coronary sinus
Atrial septal defect, coronary sinus type
ASD, sinus venosus type
Atrial septal defect, sinus venosus type
ASD, ostium primum type
Atrial septal defect, ostium primum type
Atrial septal aneurysm
Left superior caval vein persisting to the left-sided atrium
Persistent left SVC connecting to the left-sided atrium
Persistent left superior caval vein connecting to the left-sided atrium
Persistent left superior vena cava connecting to the left-sided atrium is a rare, congenital vascular malformation of the major vessels characterized by a persitent left superior vena cava which drains directly to the left atrium, without passing through the coronary sinus (that may be absent in some cases). Patients are usually asymptomatic and discovered incidentally, however hypoxia, cyanosis, murmurs, palpitations, cardiac structural anomalies (e.g. atrial septal defect, bicuspid aortic valve, cor triatrium) and risk of paradoxical embolization may be associated.
Persistent left superior vena cava connecting to the left-sided atrium
Right SVC connecting to left-sided atrium
Right superior caval vein connecting to left-sided atrium
Right superior vena cava connecting to the left-sided atrium is a rare, congenital vascular malformation of the major vessels characterized by the right SVC passing medially and dorsally to the aortic root and draining into the left atrium. Patients usually present a right-to-left systemic venous blood shunt which may manifest with arterial hypoxemia, cyanosis, exercise dyspnea, clubbing of the fingers, palpitations, murmurs and/or potentially fatal brain abscess. Association with other cardiac anomalies has been reported.
Right superior vena cava connecting to left-sided atrium
Left SVC persisting to left-sided atrium
Left superior caval vein persisting to left-sided atrium
Left superior vena cava persisting to left-sided atrium
Absence of brachiocephalic vein
Absence of innominate vein is a rare congenital anomaly of the great veins characterized by absence of the left brachiocephalic vein (or innominate vein), resulting in an anomalous venous vasculature. Patients are usually asymptomatic and the anomaly is typically discovered intraoperatively. An association with persistence of left superior vena cava, permanent levoatrial cardinal vein or anomaly of the inferior vena cava has been reported in some cases.
Absence of innominate vein
Subaortic course of brachiocephalic vein
Subaortic course of innominate vein is a rare congential anomaly of the great veins characterized by an anomalous course of the left brachiocephalic vein, passing from left to right below the aortic arch and entering the superior vena cava below the orifice of the azygos vein. Patients are frequently asymptomatic and diagnosed incidentally on imaging studies. Other cardiac malformations may be associated.
Subaortic course of innominate vein
Absence of the SVC
Absence of the superior caval vein
Absence of the superior vena cava
Agenesis of the SVC
Agenesis of the superior caval vein
Agenesis of the superior vena cava (SVC) is a rare congenital anomaly of the great veins characterized by unilateral or bilateral complete absence of the SVC. Unilateral agenesis is mainly asymptomatic (most of the time diagnosed incidentally) and patients usually have otherwise normal heart structure. Bilateral agenesis, however, is frequently associated with other congenital cardiac anomalies and/or conduction abnormalities (such as tetralogy of Fallot, atrial septal defect) and typically present symptoms of SVC syndrome.
Agenesis of the superior vena cava
Coronary sinus stenosis
Coronary sinus atresia
Right IVC connecting to left-sided atrium
Right inferior caval vein connecting to left-sided atrium
Right inferior vena cava connecting to left-sided atrium
Persistent eustachian valve is a rare congenital anomaly of the inferior vena cava characterized by the postnatal presence of an eustachian valve remnant, which may be asymptomatic and considered a normal variant or prominent and clinically significant. Clinical presentation is variable and includes obstruction of the inferior vena cava, cyanosis, thrombosis, pulmonary embolism, infective endocarditis, and when combined with persistent foramen ovale, it may generate permanent right-to-left shunt.
Persistent eustachian valve
Azygos continuation of the IVC
Azygos continuation of the inferior caval vein
Azygos continuation of the inferior vena cava
Congenital stenosis of the IVC
Congenital stenosis of the inferior caval vein
Congenital stenosis of the inferior vena cava
IVC interruption
Inferior caval vein interruption
Inferior vena cava interruption
Partial pulmonary venous return (PAPVR) is a form of congenital pulmonary venous return (see this term) where one or a few of the pulmonary veins drain into the right atrium or one of its tributaries instead of the left atrium. Some patients can be asymptomatic while others can manifest with non-specific signs such as frequent respiratory infections, fatigue and exertional dyspnea.
Congenital partial pulmonary venous return anomaly
Total pulmonary venous return (TAPVR) is a form of congenital pulmonary venous return (see this term)where all of the pulmonary veins drain into the right atrium or one of its tributaries, instead of the left atrium, leading to various manifestations such as fatigue, exertional dyspnea, pulmonary arterial hypertension, cyanosis and progressive congestive heart failure.
Congenital total pulmonary venous return anomaly
use http://www.orpha.net/ORDO/Orphanet_3188 with label: Congenital pulmonary veins atresia or stenosis
Congenital complete agenesis of pericardium is a rare, mostly asymptomatic, congenital heart malformation characterized by the complete absence of the entire pericardium, or by the absence of either the right (uncommon) or left pericardium. It is occasionally associated with chest pain (common), dyspnea, dizziness, bradycardia and syncope, while exertional manifestations are rare. The disease is usually incidentally diagnosed during surgery or at autopsy.
Congenital complete agenesis of pericardium
Congenital partial agenesis of pericardium is a rare, mostly asymptomatic, congenital heart malformation mainly characterized by the partial absence of the left pericardium. It is occasionally associated with chest pain or dyspnea and is usually incidentally diagnosed during surgery or at autopsy. Herniation and strangulation of a portion of the heart through the pericardial foramen may occur, resulting in myocardial acute ischemia and possible sudden death. Right side pericardium involvement is rare.
Congenital partial agenesis of pericardium
Pleuro-pericardial cyst is a rare, mostly congenital, pericardium anomaly characterized by the presence of, usually asymptomatic, cysts which are typically located in the right costophrenic angle and are usually incidentally diagnosed. On occasion, it manifests with chest pain, dyspnea, tachycardia, persistent cough or cardiac arrhythmias. The condition is usually benign, but rare complications, such as cardiac tamponade, cardiogenic shock, mitral valve prolapse, hoarseness atrial fibrillation, right ventricular outflow, tract obstruction, spontaneous internal hemorrhage, pulmonary stenosis and sudden death, may occur.
Pleuro-pericardial cyst
use http://www.orpha.net/ORDO/Orphanet_98365 with label: Hereditary stomatocytosis
OBSOLETE: Intermediate stomatocytosis syndrome
6-phosphogluconate dehydrogenase deficiency
Hemolytic anemia due to erythrocyte adenosine deaminase overproduction is a rare, genetic, hematologic disease characterized by mild, chronic hemolytic anemia (due to highly elevated adenosine deaminase activity in red blood cells resulting in their premature destruction), elevated reticulocyte count, splenomegaly and mild hyperbilirubinemia. Other cells and tissues are not affected.
Hemolytic anemia due to erythrocyte adenosine deaminase overproduction
Unstable hemoglobin disease
Lymphedema-posterior choanal atresia syndrome
OBSOLETE: Mandibulofacial dysostosis-lymphedema syndrome
use http://www.orpha.net/ORDO/Orphanet_248326 with label: Rare hemorrhagic disorder due to a platelet anomaly
OBSOLETE: Platelet function disease associated with renal insufficiency
Acquired von Willebrand disease
Acquired von Willebrand syndrome (AVWS) is a bleeding disorder marked by the same biological anomalies as those seen in hereditary von Willebrand disease (VWD; see this term) but which occurs in association with another underlying pathology, generally in elderly patients without any personal or family history of bleeding anomalies.
Acquired von Willebrand syndrome
Epiblepharon
Tarsal kink syndrome is a rare congenital malformation of the tarsus that causes entropion characterized by blepharospasm and absence of an upper eyelid fold that may lead to corneal ulceration caused by the folded edge of the upper tarsus or the inturned eyelashes if not corrected by surgery.
Tarsal kink syndrome
Isolated congenital ectropion is a rare ocular disease characterized by congenital, unilateral or bilateral, lower or upper eyelid malposition with eversion of the margin due to a vertical shortage of skin, leading to exposure of the conjunctiva and sometimes the cornea. Chronic epiphora and exposure keratitis may be observed in severe cases.
Isolated congenital ectropion
Euryblepharon is a rare congenital eyelid anomaly of unknown etiology characterized by the bilateral horizontal enlargement of the palpebral fissure with vertically shortened eyelids, lateral canthus malpositioning and lateral ectropion. It may be isolated or associated with other ocular anomalies (e.g. strabismus or telecanthus; see this term) or systemic anomalies (e.g. blepharo-cheilo-odontic syndrome, see this term). In severe cases, it may result in lagophthalmos and exposure keratopathy, requiring surgical treatment.
Euryblepharon
Congenital eyelid retraction is a very rare kinetic eyelid anomaly that can affect the upper or lower eyelid, presents at birth, that in some cases can result in corneal exposure, and that may be associated with accessory levator muscle slips.
Congenital eyelid retraction
Isolated distichiasis is a rare congenital eyelid anomaly characterized by an accessory row of eyelashes (that may be partial or complete) posterior to the normal row of cilia, at or close to the meibomian gland orifices, that is not associated with any other condition, and that may lead to ocular irritation and corneal damage if left untreated.
Isolated distichiasis
Kandori fleck retina is a rare, genetic retinal dystrophy disorder characterized by irregular, sharply defined, yellowish-white lesions of variable size that are distributed mainly in the nasal equatorial region of the retina, with a tendency to confluence, that are not associated with any vascular or optic nerve abnormalities. They frequently manifest as mild and stationary night blindness.
Kandori fleck retina
Monosomy X
Mosaic monosomy X
UPD(13)pat
Paternal uniparental disomy of chromosome 13 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier.
Paternal uniparental disomy of chromosome 13
48,XYYY syndrome is a rare Y chromosome number anomaly that affects only males and is characterized by mild-moderate developmental delay (especially speech), normal to mild intellectual disability, large, irregular teeth with poor enamel, tall stature and acne. Radioulnar stenosis and clinodactyly have also been associated. Boys generally present normal genitalia, while hypogonadism and infertility is frequently reported in adult males.
48,XYYY syndrome
49,XYYYY is a rare Y chromosome number anomaly with a variable phenotype mainly characterized by moderate to severe intellectual disability, speech delay, hypotonia, and mild dysmorphic features, including facial asymmetry, hypertelorism, bilateral low set 'lop' ears, and micrognatia. Skeletal abnormalities (such as skull deformities, radioulnar synostosis, elbow flexion, clinodactyly, brachydactyly) and behavourial problems have also been associated with this condition. Genitalia are normal at birth, although hypogonadism and azoospermia has been reported in adults.
49,XYYYY syndrome
Familial MTC
Familial medullary thyroid carcinoma
Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome
FADS
Pena-Shokeir syndrome type 1
The fetal akinesia/hypokinesia sequence (or Pena-Shokeir syndrome type I) is characterized by multiple joint contractures, facial anomalies and pulmonary hypoplasia. Whatever the cause, the common feature of this sequence is decreased foetal activity.
Fetal akinesia deformation sequence
Pituitary adenoma
Turner syndrome due to structural X chromosome anomalies
CAIS
Complete androgen resistance syndrome
Complete androgen insensitivity syndrome (CAIS) is a form of androgen insensitivity syndrome (AIS; see this term), a disorder of sex development (DSD), characterized by the presence of female external genitalia in a 46,XY individual with normal testis development but undescended testes and unresponsiveness to age-appropriate levels of androgens.
Complete androgen insensitivity syndrome
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_994 with label: Fetal akinesia deformation sequence
Spondyloepimetaphyseal dysplasia, Handigodu type is a rare, genetic, primary bone dysplasia disorder characterized by three distinct phenotypes, namely: 1) patients of average height with painful, osteoarthritic changes of the hip joints and no spinal abnormalities, 2) short-statured patients with predominantly truncal shortening, arm span exceeding height, dysplastic changes of hips and varying degrees of platyspondyly, and 3) patients with dwarfism, various associated skeletal abnormalities (particularly of the knees and hands) and severe epiphyseal dysplasia (of hips, knees, hands, wrists) associated with significant platyspondyly. Most patients cannot walk long distances, and many have decreased joint spaces, as well as sclerotic and cystic changes on imaging.
Spondyloepimetaphyseal dysplasia, Handigodu type
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_1426 with label: Greenberg dysplasia
Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria is an extremely rare genetic disorder characterized by the unique association of enchondromatosis with D-2 hydroxyglutaric aciduria (see these terms). Clinical features include enchondromatosis (with short stature, severe metaphyseal dysplasia and mild vertebral involvement), elevated levels of urinary 2-hydroxyglutaric acid and mild developmental delay.
Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
Generalized enchondromatosis with platyspondyly
Cheirospondyloenchondromatosis is an extremely rare type of enchondromatosis of very early onset (from neonatal period to infancy) characterized by symmetrical multiple enchondromas with metacarpal and phalangeal involvement resulting in short hands and feet, platyspondyly, mild to moderate short stature and intellectual disability.
Cheirospondyloenchondromatosis
OBSOLETE: Non-progressive congenital heart block
use http://www.orpha.net/ORDO/Orphanet_166424 with label: Thinking seizures
OBSOLETE: Generalized epilepsy and praxis-induced seizures
use http://www.orpha.net/ORDO/Orphanet_98116 with label: Non-pore-loop channelopathy due to Cl- channel Clc2 anomaly
OBSOLETE: Non-pore-loop channelopathy involved in several types of epilepsy
use http://www.orpha.net/ORDO/Orphanet_98117 with label: Non-pore-loop channelopathy due to Cl- transporter kidney Clc5 anomaly
OBSOLETE: Non-pore-loop channelopathy involved in other renal tubular disorder
DYT2
Primary dystonia DYT2 type is characterized by segmental dystonia that manifests with involuntary posturing affecting predominantly the feet.
Primary dystonia, DYT2 type
use http://www.orpha.net/ORDO/Orphanet_98686 with label: Congenital trochlear nerve palsy
Fried's tooth and nail syndrome
Dermotrichic syndrome is a rare, genetic, ectodermal dysplasia syndrome characterized by skin, hair and nail anomalies (i.e. generalized ichthyosis, congenital alopecia universalis, dystrophic, convex nails), associated with hypohidrosis without hyperthermia, intellectual disability, seizures, and skeletal (e.g. proportionate short stature, platyspondyly) and intestinal (e.g. congenital aganglionic megacolon) anomalies. Facial dysmorphism includes frontal bossing, blepharophimosis, large ears, low nasal bridge and small nose. There have been no further descriptions in the literature since 1992.
Dermotrichic syndrome
Alveolar synechia-ankyloblepharon-ectodermal dysplasia syndrome
MTLE-HS
Mesial temporal lobe epilepsy with hippocampal sclerosis is a rare epilepsy syndrome defined by seizures originating in limbic areas of the mesial temporal lobe, particularly in the hippocampus, amygdala, and in the parahippocampal gyrus and its connections, and hippocampal sclerosis, usually unilateral or assymetric. It is frequently associated with an initial precipitating event, such as febrile seizures, hypoxia, intracranial infection or head trauma, most often occurring in the first five years of life, followed by a latent period without seizures. Typical seizures consist of a characteristic aura that is frequently a rising epigastric sensation associated with emotional disturbances, illusions, and autonomic symptoms (widened pupils, palpitations), progressive impairment of consciousness, oro-alimentary automatisms (lip smacking, chewing, licking, tooth grinding), behavioral arrest, head deviation, dystonic postures, hand and verbal automatisms. Seizures are followed by postictal dysfunction. Initially, seizures are easily controlled with antiepileptic drugs, later they frequently become refractory and associated with progressive behavioral changes and memory deficits.
Mesial temporal lobe epilepsy with hippocampal sclerosis
use http://www.orpha.net/ORDO/Orphanet_300766 with label: Laminopathy with premature aging
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_284963 with label: Marfan syndrome type 1
LHON plus disease
Leber `plus' disease describes patients with the clinical features of Leber's hereditary optic neuropathy (LHON; see term) in combination with other serious systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, dystonia, motor and sensory peripheral neuropathy, spasticity and mild encephalopathy. It is caused by maternally-inherited mitochondrial DNA (mtDNA) mutations.
Leber plus disease
use http://www.orpha.net/ORDO/Orphanet_930 with label: Idiopathic achalasia
Hypophyseal gigantism
Infantile and juvenile forms of acromegaly
Pituitary gigantism
ISOD
Sulfocysteinuria
Isolated sulfite oxidase deficiency
Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase
Sulfite oxidase deficiency due to molybdenum cofactor deficiency
Exercise-induced delayed-onset myotonia
Fluctuating myotonia
Myotonia fluctuans (MF) is a form of potassium-aggravated myotonia (PAM, see this term) which is cold insensitive, dramatically fluctuating and profoundly worsened by potassium ingestion.
Myotonia fluctuans
Myotonia permanens is a very rare, persistent and more severe form of potassium-aggravated myotonia (PAM, see this term).
Myotonia permanens
ACZ-responsive congenital myotonia
ACZ-responsive myotonia
Acetazolamide-responsive congenital myotonia
Myotonia-painful contractions syndrome
Painful congenital myotonia
Painful myotonia
Acetazolamide-responsive myotonia is a form of potassium-aggravated myotonia (PAM, see this term) which shows dramatic improvement with the use of acetazolamide (ACZ).
Acetazolamide-responsive myotonia
Rare familial disorder with hypertrophic obstructive cardiomyopathy
Rare familial disorder with hypertrophic subaortic stenosis
Rare familial disorder with hypertrophic cardiomyopathy
Koussef-Nichols syndrome
King-Denborough syndrome is a rare genetic non-dystrophic myopathy characterized by the triad of congenital myopathy, dysmorphic features and susceptibility to malignant hyperthermia. Patients present with a wide phenotypic range, including delayed motor development, muscle weakness and fatigability, ptosis and facies myopathica (with or without creatine kinase elevations), skeletal abnormalities (e.g. short stature, scoliosis, kyphosis, lumbar lordosis and pectus carinatum/excavatum), mild dysmorphic facial features (e.g. hypertelorism, down-slanting palpebral fissures, epicanthic folds, low set ears, micrognathia), webbing of the neck, cryptorchidism, and a susceptibility to malignant hyperthermia and/or rhabdomyolysis due to intensive physical strain, viral infection or statin use.
King-Denborough syndrome
Amish lethal microcephaly is a very rare syndrome characterized by extreme microcephaly and early death, within the first year.
Amish lethal microcephaly
Typhoid fever
Typhoidal salmonellosis
and characterized by a non-focal fever.
Typhoid
Pontiac fever (PF) is a mild form of legionellosis (see this term) manifesting with flu-like symptoms such as nausea, myalgia, fever, cough and headache but without pneumonia.
Pontiac fever
Infantile agranulocytosis
Severe congenital neutropenia type 3
Kostmann syndrome is a rare, severe, congenital neutropenia disorder characterized by a lack of mature neutrophils (absolute neutrophil counts less than 500 cells/mm3) associated with frequent, recurrent bacterial infections (e.g. otitis media, pneumonia, sinusitis, urinary tract infections, abscesses of skin and/or liver) and increased promyelocytes in the bone marrow. Periodontal disease, as well as neurological symptoms, such as cognitive impairment, severe neurodegeneration and epilepsy, have been reported in some patients.
Kostmann syndrome
Atypical PSP syndrome
Atypical progressive supranuclear palsy (atypical PSP) is a group of clinical syndromes associated with underlying PSP-tau pathology, that do not conform to the classic presentation of PSP (Richardson syndrome; see this term), a rare late-onset neurodegenerative disease. The group comprises PSP-Parkinsonism (PSP-P), PSP-Pure akinesia with gait freezing (PSP-PAGF), PSP-corticobasal syndrome (PSP-CBS) and PSP-progressive non fluent aphasia (PSP-PNFA) (see these terms).
Atypical progressive supranuclear palsy syndrome
Alveolar rhabdomyosarcoma
Embryonal rhabdomyosarcoma
18-hydroxylase deficiency
18-oxidase deficiency
Aldosterone synthase deficiency
CMO I
CMO II
Corticosterone methyloxidase deficiency type I
FHHA1
Familial hyperreninemic hypoaldosteronism type 1
Aldosterone synthase deficiency unrelated to CYP11B2
Aldosterone synthase deficiency unrelated to the aldosterone synthase gene
FHHA2
Familial hyperreninemic hypoaldosteronism type 2
Bifidity of the uvula
Uvular cleft
Bifid uvula is a fissure type embryopathy affecting the uvula at the back of the soft palate.
Bifid uvula
Cleft soft palate
Cleft velum palatinum
Cleft velum is a fissure type embryopathy that affects in varying degrees the soft palate.
Cleft velum
Mosaic trisomy chromosome 9
Trisomy 9 mosaicism
Mosaic trisomy 9 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by intellectual disability, growth and developmental delay, facial dysmorphism (incl. microphthalmia, deep-set eyes, low-set, malformed ears, bulbous nose, high-arched palate, micrognathia) and congenital heart defects (e.g. ventricular septal defect), as well as urogenital (e.g. hypoplastic genitalia, cryptorchidism), skeletal (congenital joint dislocations or hyperflexion, scoliosis/kyphosis) and central nervous system anomalies (hydrocephalus, Dandy-Walker malformation). Pigmentary mosaic skin lesions along the lines of Blaschko are also frequently observed.
Mosaic trisomy 9
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_869 with label: Triple A syndrome
use http://www.orpha.net/ORDO/Orphanet_1416 with label: Familial calcium pyrophosphate deposition
OBSOLETE: Familial articular chondrocalcinosis type 1
OBSOLETE: Familial articular chondrocalcinosis type 2
DD-I
DTDP1
Radicular dentin dysplasia
Dentin dysplasia type I (DD-I) is a rare form of dentin dysplasia (DD, see this term) characterized by sharp conical short roots or rootless teeth.
Dentin dysplasia type I
DD-II
DTDP2
Dentin dysplasia type II (DD-II) is a rare mild form of dentin dysplasia (DD, see this term) characterized by normal tooth roots but abnormal primary dentition.
Dentin dysplasia type II
Dentin dysplasia-sclerotic bones syndrome is a rare, genetic odontologic disease characterized by the clinical, radiographic, and histologic features of dentine dysplasia and osteosclerosis of all long bones, with heavy cortical bone and narrowed or occluded marrow spaces. There have been no further descriptions in the literature since 1977.
Dentin dysplasia-sclerotic bones syndrome
Subcortical laminar heterotopia
Subcortical band heterotopia
Anodontia is an extreme developmental dental anomaly characterized by the complete absence of all teeth.
Anodontia
Selective tooth agenesis
Oligodontia is a rare developmental dental anomaly in humans characterized by the absence of six or more teeth.
Oligodontia
Albinism-deafness syndrome (ADFN) is characterised by congenital nerve deafness and piebaldness with no ocular albinism. It has been described in one large pedigree. Transmission is X-linked with affected males presenting with profound sensorineural deafness and severe pigmentary abnormalities of the skin, and carrier females presenting with variable hearing impairment without any pigmentary changes. The causative gene has been mapped to Xq26.3-q27.1.
Albinism-deafness syndrome
Unilateral megalencephaly
Hemimegalencephaly is a rare cerebral malformation characterized by overgrowth of all or part of a cerebral hemisphere, often with ipsilateral severe cortical dysplasia or dysgenesis, white matter hypertrophy and dilated lateral ventricle, presenting in early infancy with progressive hemiparesis, severe psychomotor retardation and intractable seizures. Hemimegalencephaly may be an isolated finding or associated with other syndromes such as angioosteohypertrophic syndrome, epidermal nevus syndrome and Ito hypomelanosis (see these terms). Management includes seizure control by antiepileptic medications and early hemispherectomy.
Hemimegalencephaly
Congenital central alveolar hypoventilation-Hirschsprung disease syndrome
Ondine-Hirschsprung disease
Ondine-Hirschsprung syndrome
Haddad syndrome is a rare congenital disorder in which congenital central hypoventilation syndrome (CCHS), or Ondine syndrome, occurs concurrently with Hirschsprung disease (see these terms).
Haddad syndrome
OOD
Oculootodental syndrome is a contiguous gene syndrome comprising otodental syndrome (characterized by globodontia and sensorineural high-frequency hearing deficit) associated with eye abnormalities including, typically, iris and chorioretinal coloboma, as well as, on occasion, microcornea, microphtalmos, lenticular opacity, lens coloboma and iris pigment epithelial atrophy.
Oculootodental syndrome
PEHO-like syndrome is a rare, genetic neurological disease characterized by progressive encephalopathy, early-onset seizures with a hypsarrhythmic pattern, facial and limb edema, severe hypotonia, early arrest of psychomotor development and craniofacial dysmorphism (evolving microcephaly, narrow forehead, short nose, prominent auricles, open mouth, micrognathia), in the absence of neuro-ophthalmic or neuroradiologic findings. Poor visual responsiveness, growth failure and tapering fingers are also associated.
PEHO-like syndrome
Familial porencephaly
Neuronal intestinal pseudoobstruction is a form of chronic intestinal pseudoobstruction caused by a developmental failure of the enteric neurons to differentiate or migrate properly and manifests as a bowel obstruction.
Neuronal intestinal pseudoobstruction
DNA ligase IV deficiency
Ligase 4 syndrome
LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID).
LIG4 syndrome
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_144 with label: Lynch syndrome
Turcot syndrome with polyposis or Turcot syndrome type 2 is a form of familial adematous polyposis, characterized by the concurrence of thousands of colonic adenomatous polyposis or colorectal cancer (CRC) and a primary central nervous system tumor (principally medulloblastoma). It is also associated with pigmented ocular fundus lesions.
Turcot syndrome with polyposis
Familial gestational hyperthyroidism
Lassa hemorrhagic fever
Lassa fever (LF) is a potentially severe viral hemorrhagic disease caused by Lassa virus and characterized by initial fever and malaise followed by gastrointestinal symptoms and, in severe cases, bleeding, shock and multi-organ system failure.
Lassa fever
Nipah encephalitis
Nipah fever
Nipah virus disease, caused by the Nipah virus, is a recently discovered zoonotic disease characterized by fever, constitutional symptoms and encephalitis, sometimes accompanied by respiratory illness.
Nipah virus disease
Green monkey disease
MHF
Marburg virus disease
Marburg hemorrhagic fever (MHF), caused by Marburg virus, is a severe viral hemorrhagic disease characterized by initial fever and malaise followed by gastrointestinal symptoms, bleeding, shock, and multi-organ system failure.
Marburg hemorrhagic fever
CCHF
Congo fever
Congo hemorrhagic fever
Crimean hemorrhagic fever
Crimean-Congo hemorrhagic fever (CCHF) is a tick-borne zoonotic disease caused by CCHF virus and characterized by initial fever, headache, and malaise followed by gastrointestinal symptoms and, in severe cases, bleeding, shock, and multi-organ system failure.
Crimean-Congo hemorrhagic fever
Dengue virus infection
Dengue fever (DF), caused by dengue virus, is an arboviral disease characterized by an initial non-specific febrile illness that can sometimes progress to more severe forms manifesting capillary leakage and hemorrhage (dengue hemorrhagic fever, or DHF) and shock (dengue shock syndrome, or DSS).
Dengue fever
Bronze John
Yellow Jack
Yellow fever (YF), caused by YF virus, is a zoonotic disease characterized by fever and constitutional symptoms, with the potential to progress to severe and fatal viral hemorrhagic fever with shock and multi-organ system failure.
Yellow fever
OBSOLETE: Common variable immunodeficiency due to an intrinsic T cell defect
Central hypothyroidism due to TRH receptor deficiency
TRH resistance syndrome
Resistance to thyrotropin-releasing hormone (TRH) syndrome is a type of central congenital hypothyroidism (see this term) characterized by low levels of thyroid hormones due to insufficient release of thyroid-stimulating hormone (TSH) caused by pituitary resistance to TRH. It may or may not be observed from birth.
Resistance to thyrotropin-releasing hormone syndrome
LAD-I
Leukocyte adhesion deficiency type I (LAD-I) is a form of LAD (see this term) characterized by life-threatening, recurrent bacterial infections.
Leukocyte adhesion deficiency type I
CDG syndrome type IIc
CDG-IIc
CDG2C
LAD-II
Rambam-Hasharon syndrome
SLC35C1-CDG
Leukocyte adhesion deficiency type II (LAD-II) is a form of LAD (see this term) characterized by recurrent bacterial infections, severe growth delay and severe intellectual deficit.
Leukocyte adhesion deficiency type II
LAD-1 variant
LAD-III
Leukocyte adhesion deficiency-1 variant
Leukocyte adhesion deficiency type III (LAD-III) is a form of LAD (see this term) characterized by both severe bacterial infections and a severe bleeding disorder.
Leukocyte adhesion deficiency type III
Genetic recurrent myoglobinuria is an inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers.
Genetic recurrent myoglobinuria
Autosomal dominant myoglobinuria is a rare metabolic myopathy characterized by episodic myalgia with myoglobinuria which is induced by fever, viral or bacterial infection, prolonged exercise or alcohol abuse, and could, on occasion, lead to acute renal failure. Between episodes, patients may be asymptomatic or could present elevated creatine kinase levels and mild muscle weakness. There have been no further descriptions in the literature since 1997.
Autosomal dominant myoglobinuria
GSD due to muscle beta-enolase deficiency
GSDXIII
Glycogenosis due to muscle beta-enolase deficiency
Glycogenosis type 13
Muscle enolase deficiency
Muscular enolase deficiency
Muscle beta-enolase deficiency is a glycolysis disorder reported in one patient to date and characterized clinically by exercise intolerance and myalgia due to severe enolase deficiency in muscle.
Glycogen storage disease due to muscle beta-enolase deficiency
Progressive encephalopathy with severe infantile anorexia
Reunion island-anorexia-vomiting which is irrepressible-neurological signs syndrome
Ravine syndrome is an extremely rare genetic neurological disorder, reported in a small number of patients in a specific community on Reunion Island (Ravine region), characterized by infantile anorexia with irrepressible and repeated vomiting, acute brainstem dysfunction, severe failure to thrive, and progressive encephalopathy with MRI showing vanishing of medulla oblongata and cerebellar white matter and severe atrophy of pons, along with supra-tentorial periventricular white-matter hyperintensities and basal ganglia anomalies.
Ravine syndrome
Ovarioleukodystrophy
Cree leukoencephalopathy
Congenital syringomyelia
Primary syringomyelia
Secondary syringomyelia is a rare medullar disease defined as a development of a fluid-filled cavity or syrinx within the spinal cord due to blockage of CSF circulation (e.g., due to basal archnoiditis, meningeal carcinomatosis, various mass lesions), spinal cord injury (e.g., due to trauma, radiation necrosis, hemorrhage, spinal abscess), spinal dysraphism or intramedullary tumours. It presents with neuropathic pain, numbness, muscular weakness, changes in tone or spasticity or autonomic changes (hyperhidrosis, heart rate or blood pressure instability). Selective loss of pain and temperature with relative preservation of dorsal column function (touch and pressure) are classic findings.
Secondary syringomyelia
Idiopathic syringomyelia is a rare, non-syndromic central nervous system malformation characterized by a longitudinally oriented fluid-filled cavity inside the spinal cord parenchyma or the central canal, without any readily identifiable cause. It is usually associated with pain, sensory and/or musculoskeletal disturbances, but it can also be an incidental and asymptomatic finding.
Idiopathic syringomyelia
use http://www.orpha.net/ORDO/Orphanet_99857 with label: Secondary syringomyelia
B-ALL
Precursor B-cell acute lymphoblastic leukemia/lymphoma
Precursor B-cell acute lymphocytic leukemia
Precursor B-cell acute lymphocytic leukemia/lymphoma
Precursor B-cell acute lymphoblastic leukemia
Precursor T-cell acute lymphoblastic leukemia/lymphoma
Precursor T-cell acute lymphocytic leukemia
Precursor T-cell acute lymphocytic leukemia/lymphoma
T-ALL
Precursor T-cell acute lymphoblastic leukemia
use http://www.orpha.net/ORDO/Orphanet_842 with label: Testicular seminomatous germ cell tumor
Spermatocytic seminoma (SS) is an extremely rare form of testicular cancer distinguished from testicular seminomatous germ cell tumors (see this term) by a very low rate of metastasis and lack of an ovarian equivalent.
Spermatocytic seminoma
use http://www.orpha.net/ORDO/Orphanet_99865 with label: Spermatocytic seminoma
OBSOLETE: Metastatic spermatocytic seminoma
Primary thymic epithelial neoplasm
Primary thymic epithelial tumor
Thymoma is a thymic epithelial neoplasm (TEN; see this term), a rare malignancy that arises from the epithelium of the thymic gland.
Thymoma
Malignant thymoma
Thymic carcinoma (TC) is a type of thymic epithelial neoplasm (see this term) characterized by a high malignant potential.
Thymic carcinoma
Thymic neuroendocrine carcinoma is a type of thymic epithelial neoplasm (see this term) displaying evidence of neuroendocrine differentiation.
Thymic neuroendocrine carcinoma
Acute and disseminated Langerhans cell histiocytosis
Letterer-Siwe syndrome (LSS) is the acute disseminated multisystem form of Langerhans cell histiocytosis (see this term) characterised by proliferation of nonlipid histiocytes in the viscera and bones.
Letterer-Siwe disease
Chronic and localized Langerhans cell histiocytosis
Eosinophilic granuloma
Congenital Langerhans cell histiocytosis
Hashimoto-Pritzker histiocytosis (HPH) is a variant of Langerhans cell histiocytosis (see this term) characterized by multiple disseminated skin lesions (firm, red-brown, painless papulo-nodules).
Hashimoto-Pritzker syndrome
Chronic multifocal Langerhans cell histiocytosis
Multifocal eosinophilic granuloma
Hand-Schüller-Christian disease
Pulmonary histiocytosis X
Adult pulmonary Langerhans Cell Histiocytosis (PLCH) is a rare histiocytic lung disease characterized by the accumulation of Langerhans and other inflammatory cells in the small airways, resulting in the formation of nodular inflammatory lesions.
Adult pulmonary Langerhans cell histiocytosis
EDS VIIA
Ehlers-Danlos syndrome type 7A
EDS VIIB
Ehlers-Danlos syndrome type 7B
Familial parathyroid adenoma
Familial parathyroids hyperplasia
Hereditary parathyroids hyperplasia
Primary parathyroid hyperplasia
FIHPT
Familial isolated hyperparathyroidism
HPT-JT
Hyperparathyroidism-jaw tumor syndrome
Monogenic diabetes of infancy
PNDM
Permanent neonatal diabetes mellitus (PNDM) is a monogenic form of neonatal diabetes (NDM, see this term) characterized by persistent hyperglycemia within the first 12 months of life in general, requiring continuous insulin treatment.
Permanent neonatal diabetes mellitus
TNDM
Transient neonatal diabetes mellitus (TNDM) is a genetically heterogeneous form of neonatal diabetes (NDM, see this term) characterized by hyperglycemia presenting in the neonatal period that remits during infancy but recurs in later life in most patients.
Transient neonatal diabetes mellitus
DS-AMKL
Acute megakaryoblastic leukemia in Down syndrome
Adrenocorticotropic hormone secretion syndrome
Ectopic ACTH secreting tumor
Ectopic Cushing syndrome
Occult ectopic ACTH secretion
Paraneoplastic Cushing syndrome
Cushing syndrome due to ectopic (adrenocorticotropic hormone) ACTH secretion (EAS) is a form of ACTH-dependent Cushing syndrome (see this term) caused by excess secretion of ACTH by a benign or, more often, malignant non-pituitary tumor.
Cushing syndrome due to ectopic ACTH secretion
ACTH-dependent CS
Adrenocorticotropic hormone-dependent Cushing syndrome
Corticotropin-dependent Cushing syndrome
Adrenocorticotropic hormone dependent Cushing syndrome (ACTH-dependent CS) is a form of endogenous CS (see this term) caused by abnormal production of ACTH due, in 80% of cases, to ACTH oversecretion by a pituitary adenoma (Cushing disease, CD) and in 20% of cases to ectopic ACTH secretion (CS due to EAS; see these terms) by an extrapituitary tumor (in 50% of cases originating in the lungs or less commonly in the thymus, pancreas, adrenal gland or thyroid) or very rarely due to a tumor secreting both ACTH and corticotrophin-releasing hormone (CRH).
ACTH-dependent Cushing syndrome
Adrenal Cushing syndrome
Adrenocorticotropic hormone-independent Cushing syndrome
Corticotropin-independent Cushing syndrome
Adrenocorticotropic hormone (ACTH) independent Cushing syndrome is a form of endogenous Cushing syndrome (CS; see this term) that may result from excess secretion of cortisol by either a unilateral and benign (adrenocortical adenoma: 55-60%) or malignant (adrenocortical carcinoma: 35-40 %) adrenocortical tumor or by bilateral adrenal secretion by macronodular adrenal hyperplasia (AIMAH), as an isolated disease or as part of McCune-Albright syndrome (MAS), or by primary pigmented nodular adrenocortical disease (PPNAD), as an isolated disease or as part of Carney complex (CNC; see these terms).
ACTH-independent Cushing syndrome
MSMD due to complete IFNgammaR1 deficiency
MSMD due to complete interferon gamma receptor 1 deficiency
Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 1 deficiency
Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency is a genetic variant of MSMD (see this term) characterized by a complete deficiency in IFN-gammaR1, leading to impaired IFN-gamma immunity and, consequently, to severe and often fatal infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM).
Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency
O'Doherty syndrome
Pigmentary disorder with hearing loss
Cutaneous albinism-ermine phenotype is characterised by the association of white hair with black tufts, depigmented skin and sensorineural deafness. It has been described in two pairs of siblings and one individual case. The depigmentation may present as vitiligo, or be spotted with brown patches. Nystagmus, photophobia, retinal depigmentation and intellectual deficit were also reported in one pair of siblings. An autoimmune mechanism or failure of melanocyte migration may be responsible for the disease.
Ermine phenotype
Long chain acyl-CoA dehydrogenase deficiency
ACAD9 deficiency
Acyl-CoA dehydrogenase 9 (ACAD9) deficiency is a rare disorder leading to a deficiency of complex I of the respiratory chain and is characterized by neurological dysfunction, hepatic failure and cardiomyopathy.
Acyl-CoA dehydrogenase 9 deficiency
Sodoku
and is transmitted to humans through the bites and scratches of rats. The disease is mostly present in Asia.
Spirillary rat-bite fever
and is transmitted to humans through the bites and scratches of infected rats.
Streptobacillary rat-bite fever
, living in mouldy hay, straw, or grain. It is characterized by variable degrees of dyspnea, cough, tiredness, headaches and occasional fever/night sweats, with acute, sub-acute or chronic clinical course
Farmer's lung disease
House allergic alveolitis is a hypersensitivity pneumonitis (see this term) resulting from the inhalation of an antigen to which an individual has been previously sensitized in his/her domestic environment. House allergic alveolitis encompasses summer hypersensitivity pneumonitis, humidifier-induced lung diseases, hot tub lung and legionellosis (see this term).
House allergic alveolitis
Bird fancier lung
Pigeon-breeder's lung disease, also called bird fanciers lung, is a hypersensitivity pneumonitis (see this term) induced by inhalation of bird derived-proteins. Presentation can be acute with chills, cough, fever, shortness of breath, chest tightness usually resolving within 24 h after cessation of antigen exposure, sub-acute with cough and dyspnea over several days to weeks, whereas chronic form results in breathlessness, coughing, lack of appetite and weight loss.
Pigeon-breeder lung disease
Occupational allergic alveolitis designates a hypersensitivity pneumonitis (see this term) resulting from the inhalation of an antigen to which an individual has been previously sensitized in his/her occupational environment. Symptoms vary depending on the antigen and the form (acute, subacute, chronic) of the disease. They may be cough, dyspnea, chills, fever, weight loss, loss of appetite and general malaise
Occupational allergic alveolitis
Dysgerminomatous germ cell cancer of the ovary
Malignant ovarian dysgerminoma
Malignant dysgerminomatous germ cell tumor of ovary is the most common form of malignant germ cell tumor of ovary (see this term), arising from germ cells in the ovary, usually presenting during adolescence with pelvic mass, fever, vaginal bleeding, and acute abdomen and is characterized by bilaterality (around 10% of cases), association with dysgenetic gonads (5 to 10% of cases), elevated serum lactate dehydrogenase (LDH) and human chorionic gonadotrophin (hCG) (in the presence of syncitiotrophoblasts). Malignant dysgerminomatous germ cell tumor of ovary responds well to chemotherapy, potentially sparing patients from infertility and early mortality.
Malignant dysgerminomatous germ cell tumor of the ovary
Extragonadal non-dysgerminomatous germ cell tumor
Gynandroblastoma
Granulosa cell cancer
Granulosa cell malignant tumor
Malignant granulosa cell tumor of ovary is a rare malignant sex cord stromal tumor of ovary (see this term) arising from the granulosa cells of the ovary, which occurs in peri and post menopausal women, and that presents with abnormal vaginal bleeding, abdominal pain and distension. The tumor is frequently unilateral, estrogen secreting, and has a slow natural history and a tendency to relapse long after the initial diagnosis, necessitating prolonged follow-up.
Maligant granulosa cell tumor of the ovary
Androblastoma
Arrhenoblastoma
Ovarian Sertoli-Leydig cell cancer
Ovarian malignant Sertoli-Leydig cell tumor
Virilizing ovarian tumor
Malignant Sertoli-Leydig cell tumor of ovary is a rare malignant sex cord stromal tumor of ovary (see this term) occuring typically in young women and characterized by manifestations of androgen excess (hirsutism, hair loss, amenorrhea, or oligomenorrhea), when functional.
Malignant Sertoli-Leydig cell tumor of the ovary
Theca (steroid-producing) cell cancer, not further specified
Malignant steroid cell tumor of the ovary, not otherwise specified is a rare malignant sex cord stromal tumor of ovary (see this term) of unknown histological lineage, occurring in adult women, characterized, in most cases, by manifestations of androgen excess (hirsutism, hair loss, amenorrhea, or oligomenorrhea) and, occasionally, Cushing syndrome (see this term).
Theca steroid-producing cell malignant tumor of ovary, not further specified
Streptococcal TSS
infection.
Streptococcal toxic-shock syndrome
Staphylococcal TSS
bacterial infection.
Staphylococcal toxic-shock syndrome
Acute graft versus host disease
Chronic graft versus host disease
Ocular pemphigoid is a rare inflammatory eye disease characterized by sub-epithelial blistering manifesting with bilateral, asymmetrical, chronic or recurrent conjunctivitis and aberrant tissue regeneration leading to progressive conjunctival fibrosis, secondary corneal vascularization and, in some cases, blindness. Patients typically present with conjunctival redness, increased lacrimation, burning and/or foreign body sensation, edema, limbitis and/or varying degrees of ocular pain. Ankyloblepharon may be observed in end stages of the disease.
Ocular cicatricial pemphigoid
An invasive mole is a gestational trophoblastic tumor (GTT; see this term) derived from a hydatidiform mole (see this term) extending into the myometrium.
Invasive mole
Gestational choriocarcinoma is a gestational trophoblastic tumor (GTT; see this term) occurring secondary to pregnancy (ectopic or normal), miscarriage, voluntary termination of pregnancy (VTP) or a hydatidiform mole (see this term).
Gestational choriocarcinoma
Molar pregnancy
A hydatidiform mole is a benign gestational trophoblastic disease developing during pregnancy. Resulting from an abnormal fertilization characterized by trophoblastic proliferation, normal embryo development is rendered impossible. Hydatidiform moles can be either complete or partial.
Hydatidiform mole
Placental site trophoblastic tumor is a rare gestational trophoblastic tumor (GTT; see this term) which develops from the placental implantation site and always occurs following pregnancy, voluntary termination of pregnancy (VTP) or miscarriage.
Placental site trophoblastic tumor
Secondary pulmonary hemosiderosis is a respiratory disease due to the deposition of hemosiderin-laden macrophages in lungs as a result of repeated alveolar hemorrhage secondary to another disease, especially dysimmunitary disorders (i.e. Heiner syndrome (see this term), autoimmune diseases), thrombotic disorders and cardiovascular disorders such as mitral stenosis. It manifests as a triad of hemoptysis, anemia and diffuse parenchymal infiltrates on chest radiography
Secondary pulmonary hemosiderosis
Idiopathic pulmonary hemosiderosis is a respiratory disease due to repeated episodes of diffuse alveolar hemorrhage without any underlying apparent cause, most often in children. Anemia, cough, and pulmonary infiltrates on chest radiographs are found in majority of the patients.
Idiopathic pulmonary hemosiderosis
Cow's milk hypersensitivity
Heiner syndrome, also called cow's milk hypersensitivity, is a food induced pulmonary hypersensiting syndrome that affects primarily infants and that is characterized by pulmonary hemosiderosis (see this term), digestive bleeding, anemia and poor growing, improving with elimination of cow's milk from the diet.
Heiner syndrome
Pleuropulmonary blastoma type 1
Pleuropulmonary blastoma type 2
Pleuropulmonary blastoma type 3
CMT2B
Autosomal dominant Charcot-Marie-Tooth disease type 2B (CMT2B) is a severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2B onset, in the 2nd or 3rd decade, is characterized by ulcerations and infections of feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss, tendon reflexes are only reduced at ankles and foot deformities, including pes cavus or planus and hammer toes, appear in childhood.
Autosomal dominant Charcot-Marie-Tooth disease type 2B
Autosomal dominant Charcot-Marie-Tooth disease type 2C (CMT2C) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by the association of vocal cord anomalies, impairment of respiratory muscles and sensorineural hearing loss with the distal hands and feet weakness. Onset is between infancy and the 6th decade.
Autosomal dominant Charcot-Marie-Tooth disease type 2C
CMT2D
Autosomal dominant Charcot-Marie-Tooth disease type 2D (CMT2D) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal weakness primarily and predominantly occurring in the upper limbs and tendon reflexes absent or reduced in the arms and decreased in the legs. Progression is slow.
Autosomal dominant Charcot-Marie-Tooth disease type 2D
Autosomal dominant Charcot-Marie-Tooth disease type 2E (CMT2E) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2E onset is in the first to 6th decade with a gait anomaly and a leg weakness that reaches the arms secondarily. Tendon reflexes are reduced or absent and, after years, all patients have a pes cavus. Other signs may be present, including hearing loss and postural tremor.
Autosomal dominant Charcot-Marie-Tooth disease type 2E
Autosomal dominant Charcot-Marie-Tooth disease type 2F (CMT2F) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2F is characterized by symmetric weakness primarily occurring in the lower limbs (distal muscles in a majority of cases) and reaching the arms only after 5 to 10 years, occasional and predominantly distal sensory loss and reduced tendon reflexes. CMT2F presents with gait anomaly between the 1st and 6th decade and early onset is generally associated to a more severe phenotype which may include foot drop.
Autosomal dominant Charcot-Marie-Tooth disease type 2F
CMT2G
Autosomal dominant Charcot-Marie-Tooth disease type 2G (CMT2G) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2G [has only been described in 1 familly and] onset is associated to development of foot deformity and walking difficulties between the 1st and the 8th decades, with a median range in the 2nd one. Weakness and sensory loss involve primarily the legs and ankles tendon reflexes are reduced. CMT2G has a slowly progressive course.
Autosomal dominant Charcot-Marie-Tooth disease type 2G
Autosomal dominant Charcot-Marie-Tooth disease type 2I (CMT2I) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a late onset with severe sensory loss (paresthesia and hypoesthesia) associated with distal weakness, mainly of the legs, and absent or reduced deep tendon reflexes.
Autosomal dominant Charcot-Marie-Tooth disease type 2I
Autosomal dominant Charcot-Marie-Tooth disease type 2J (CMT2J) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a relatively late onset, pupillary abnormalities and deafness, in most patients, associated with distal weakness and muscle atrophy.
Autosomal dominant Charcot-Marie-Tooth disease type 2J
Autosomal dominant Charcot-Marie-Tooth disease, type 2K (CMT2K) is an axonal CMT peripheral sensorimotor polyneuropathy.
Autosomal dominant Charcot-Marie-Tooth disease type 2K
Autosomal dominant Charcot-Marie-Tooth disease type 2L (CMT2L) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. In the single family reported to date, CMT2L onset is between 15 and 33 years. Patients present with a symmetric distal weakness of legs and occasionally of the hands, absent or reduced tendon reflexes, distal legs sensory loss and frequently a pes cavus. Progression is slow.
Autosomal dominant Charcot-Marie-Tooth disease type 2L
CMT2A1
Autosomal dominant Charcot-Marie-Tooth disease type 2A1 (CMT2A1) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2A presents with a more prominent muscle weakness in lower than upper limbs and frequent postural tremor.
Autosomal dominant Charcot-Marie-Tooth disease type 2A1
Autosomal dominant Charcot-Marie-Tooth disease type 2A2 (CMT2A2) is a subtype of Autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by the childhood onset of distal weakness and areflexia (with earlier and more severe involvement of the lower extremities), reduced sensory modalities (primarily pain and temperature sensation), foot deformities, postural tremor, scoliosis and contractures. Optic atrophy, vocal cord palsy with dysphonia, sensorineural hearing loss, spinal cord abnormalities and hydrocephalus have also been reported.
Autosomal dominant Charcot-Marie-Tooth disease type 2A2
CMT4A
Charcot-Marie-Tooth disease type 4A (CMT4A) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by early-onset (infancy to early childhood) of severe, rapidly progressing demyelinating, axonal, or intermediate sensorimotor neuropathy usually affecting first, and more severely, the distal lower extremities and later the proximal muscles and upper extremities. Nerve conduction velocities range from very slow to normal. Apart from the typical CMT phenotype (distal muscle weakness and atrophy, sensory loss, frequent pes cavus foot deformity), patients commonly present delayed motor development, vocal cord paresis, mild sensory loss, abolished deep tendon reflexes, and skeletal deformities.
Charcot-Marie-Tooth disease type 4A
Charcot-Marie-Tooth disease type 4C (CMT4C) is a subtype of Charcot-Marie-Tooth type 4 characterized by childhood or adolescent-onset of a relatively mild, demyelinating sensorimotor neuropathy that contrasts with a severe, rapidly progressing, early-onset scoliosis, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and often foot deformity). A wide spectrum of nerve conduction velocities are observed and cranial nerve involvement and kyphoscoliosis have also been reported.
Charcot-Marie-Tooth disease type 4C
CMT4D
HMSN, Lom type
HMSN-Lom
Hereditary motor and sensory neuropathy, Lom type
Charcot-Marie-Tooth disease type 4D (CMT4D) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by a childhood-onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy, sensorineural hearing impairment leading to deafness (usually in third decade), severely reduced nerve conduction velocities, and skeletal, especially foot, deformities. Tongue atrophy has also been reported.
Charcot-Marie-Tooth disease type 4D
Autosomal recessive congenital hypomyelinating neuropathy
CMT4E
Charcot-Marie-Tooth disease type 4E (CMT4E) is a congenital, hypomyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by a Dejerine-Sottas syndrome-like phenotype (incl. hypotonia and/or delayed motor development in infancy), extremely slow nerve conduction velocities, potential respiratory dysfunction, cranial nerve involvement, and the typical CMT phenotype, i.e. distal muscle weakness and atrophy, sensory loss, and foot deformity.
Charcot-Marie-Tooth disease type 4E
CMT4F
Charcot-Marie-Tooth disease type 4F (CMT4F) is a severe, demyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by the childhood onset of a slowly-progressing typical CMT phenotype (i.e. distal muscle weakness and atrophy, as well as pes cavus) that presents severe sensory loss (frequently with sensory ataxia), moderately to severely reduced motor nerve conduction velocities and almost invariable absence of sensory nerve action potentials, and delayed motor milestones.
Charcot-Marie-Tooth disease type 4F
CMT4G
HMSNR
Hereditary motor and sensory neuropathy, Russe Type
Charcot-Marie-Tooth disease type 4G (CMT4G) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by early childhood onset of progressive distal muscle weakness and atrophy, delayed motor development, prominent distal sensory impairment, areflexia, moderately reduced nerve conduction velocities, and foot and hand deformities in Balkan (Russe) Gypsies.
Charcot-Marie-Tooth disease type 4G
Charcot-Marie-Tooth disease type 4H is a subtype of Charcot-Marie-Tooth disease type 4 characterized by onset before two years of age of severe, slowly progressive, demyelinating sensorimotor neuropathy manifesting with delayed motor development (walking), unsteady gait, distal muscle weakness and atrophy (more prominent in the lower limbs), areflexia, mild symmetrical stocking-distribution hypoesthesia, and skeletal malformations (incl. kyphoscoliosis, short neck, pes cavus and pes equinus). Severely reduced nerve conduction velocities are associated.
Charcot-Marie-Tooth disease type 4H
CMT4B1
Charcot-Marie-Tooth disease type 4B1 (CMT4B1) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by an early childhood-onset of severe, demyelinating sensorimotor neuropathy, various degrees of complex myelin outfoldings seen on peripheral nerve biopsy, very slow, and often undetectable, nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and frequent pes cavus). Other reported features include facial weakness, vocal cord paresis, respiratory difficulties, and skeletal deformities (e.g. chest deformities, claw hands, pes equinovarus).
Charcot-Marie-Tooth disease type 4B1
CMT4B2
Charcot-Marie-Tooth disease type 4B2 (CMT4B2) is a subtype of Charcot-Marie-Tooth type 4 characterized by a severe, early childhood-onset of demyelinating sensorimotor neuropathy, early-onset glaucoma, focally folded myelin sheaths in the peripheral nerves, severely reduced nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and frequent pes cavus). Severe visual impairment leading to visual loss has also been reported.
Charcot-Marie-Tooth disease type 4B2
BRIC type 1
BRIC1
Benign recurrent intrahepatic cholestasis type 1
BRIC type 2
BRIC2
Benign recurrent intrahepatic cholestasis type 2
O' Sullivan McLeod syndrome is a benign lower motor neuron disorder and a rare variant of monomelic amyotrophy (MA; see this term), characterized by an initial unilateral weakness in the intrinsic hand muscles that eventually spreads to the opposite limb (with an asymmetrical distribution) and that has a very slow progression of muscular atrophy over a 20 year period.
O'Sullivan-McLeod syndrome
ATRT
Atypical teratoid rhabdoid tumor (ATRT) is a highly malignant central nervous system (CNS) rhabdoid tumor (RT; see this term) found almost exclusively in children.
Atypical teratoid rhabdoid tumor
MRCLS
Myxoid/round cell liposarcoma (MRCLS) is a type of liposarcoma (LS; see this term) mostly located in the limbs, with a variable behavior depending on the histological subtype. Both myxoid and round cell are distinct histological subtypes of LS.
Myxoid/round cell liposarcoma
Pleomorphic liposarcoma (PLS), the rarest subtype of liposarcoma (LS; see this term), is an aggressive, fast growing tumor located usually in the deep soft tissues of the lower and upper extremities. It is characterized by a variable number of pleomorphic lipoblasts and, in contrast to dedifferentiated liposarcoma, it lacks any association with well-differentiated liposarcoma (see these terms).
Pleomorphic liposarcoma
DDLS
Dedifferentiated liposarcoma (DDLS) is a high-grade subtype of liposarcoma (LS; see this term) that progresses from well-differentiated liposarcoma (WDLS; see this term), and most often occurs in the retroperitoneum. It is defined as a region of nonlipogenic sarcoma associated with WDLS. .
Dedifferentiated liposarcoma
ALT
Atypical lipoma
Atypical lipomatous tumor
WDLS
Well-differentiated liposarcoma (WDLS), the most common type of liposarcoma (LS; see this term), is a slow growing, painless tumor usually located in the retroperitoneum or the limbs. It is composed of proliferating mature adipocytes.
Well-differentiated liposarcoma
OBSOLETE: TACI-related selective deficiency of IgA
Esophageal adenocarcinoma
Esophageal adenocarcinoma (EAC) is a sub-type of esophageal carcinoma (EC; see this term) affecting the glandular cells of the lower esophagus at the junction with the stomach.
Adenocarcinoma of the esophagus
ESCC
Esophageal epidermoid carcinoma
Esophageal squamous cell carcinoma
Esophageal squamous cell carcinoma (ESCC) is a type of esophageal carcinoma (EC; see this term) that can affect any part of the esophagus, but is usually located in the upper or middle third.
Squamous cell carcinoma of the esophagus
Hilar CCA
Hilar cholangiocarcinoma
Klatskin tumor is an extra-hepatic cholangiocarcinoma (CCA, see this term) arising in the junction of the main right or left hepatic ducts to form the common hepatic duct.
Klatskin tumor
Apnea of prematurity is a developmental disorder affecting premature infants, likely secondary to an immaturity of respiratory control resulting in idiopathic pauses in breathing often associated with reduced heart rate and arterial blood oxygen levels. It may be exacerbated by concurrent neonatal diseases.
Apnea of prematurity
Cutaneous myiasis
OBSOLETE: Familial restrictive cardiomyopathy type 1
OBSOLETE: Familial restrictive cardiomyopathy type 2
use http://www.orpha.net/ORDO/Orphanet_77298 with label: Anophthalmia/microphthalmia-esophageal atresia syndrome
OBSOLETE: Anophthalmia-esophageal-genital syndrome syndrome
Developmental delay-epilepsy-neonatal diabetes syndrome, intermediate form
Intermediate DEND syndrome (iDEND) is a rare mild form of DEND syndrome (see this term), a neonatal diabetes mellitus, developmental delay and epilepsy condition. The intermediate form is characterized clinically by mild motor, speech or cognitive delay and an absence of epilepsy.
Intermediate DEND syndrome
Brill disease
Recrudescent typhus
Brill-Zinsser disease
Relapsing epidemic typhus
Causalgia
Complex regional pain syndrome type 2 (CRPS2), or causalgia is a form of complex regional pain syndrome that develops after damage to a peripheral nerve and is characterized by spontaneous pain, allodynia and hyperalgesia , not necessarily limited to the territory of the injured nerve, as well as at some point, edema, changes in skin blood flow or sudomotor dysfunction in the pain area.
Complex regional pain syndrome type 2
Algodystrophy
Reflex sympathetic dystrophy
Complex regional pain syndrome type 1 (CRPS1) is a form of complex regional pain syndrome (see this term) in which the pain is disproportionate to any known inciting event and is characterized by continuous pain, allodynia, or hyperalgesia as well as edema, coloration (changes in skin blood flow), or abnormal sudomotor activity in the region of pain. Onset of CRPS1 symptoms may occur within a few days to a month after an injury or trauma to the affected limb.
Complex regional pain syndrome type 1
A set of phenotypic abnormalities.
clinical entity
Number of cases in a population during a given period. The number of cases may be expressed by annual incidence (Annual incidence), prevalence (Prevalence) and / or number of cases / families (Cases/families) published in the literature.
epidemiology
Number of cases scaled up to the general population at a given time or during a given period. Prevalence can be observed at birth (prevalence at birth), at a point in time (point prevalence), or in a lifetime (lifetime prevalence).
prevalence
Pattern in which a clinical entity of genetic origin is being passed down to the offspring.
inheritance
Refers to a country, a continent or the whole world.
geography
DNA or RNA sequence (gene with protein product, non-coding RNA and disorder-associated locus).
genetic material
Relationship between a clinical entity and modes of inheritance.
has_inheritance
Relationship between clinical entity and age of onset.
has_age_of_onset
Relationship between clinical entity and annual incidence range.
has_annual_incidence_range
Relation between two clinical entities, one being included in the other. Ex : clinical subtype part_of disease.
Relationship between a clinical entity and the geographical area for which epidemiological data (Epidemiology) is available.
present_in
Age of onset of clinical manifestations related to a clinical entity.
age of onset
Relationship between clinical entity and number of cases/families.
has_cases/families_average_value
Relationship between clinical entity and point prevalence range.
has_point_prevalence_range
Relationship between clinical entity and birth prevalence range.
has_birth_prevalence_range
Relationship between clinical entity and lifetime prevalence range.
has_lifetime_prevalence_range
Relationship between the clinical entity and the mean value of its point prevalence.
has_point_prevalence_average_value
Relationship between the clinical entity and the mean value of its birth prevalence.
has_birth_prevalence_average_value
Relationship between the clinical entity and the mean value of its lifetime prevalence.
has_lifetime_prevalence_average_value
Relationship between the clinical entity and the mean value of its annual incidence.
has_annual_incidence_average_value
Relationship between a gene with protein product, non-coding RNA or disorder-associated locus and its cytogenetic location on the chromosome.
has_chromosomal location
Validated
Attributed
Assessed
NTBT (narrower term maps to a broader term)
E (exact mapping (the terms and the concepts are equivalent))
Not yet validated
Not yet assessed
Disease
Group of phenomes
Specific code (The term has its own code in the ICD10)
Inclusion term (The term is included under a ICD10 category and has not its own code)
BTNT (broader term maps to a narrower term)
Clinical syndrome
Clinical subtype
Biological anomaly
Morphological anomaly
Index term
Etiological subtype
ND (not yet decided/unable to decide)
Histopathological subtype
W (incorrect mapping (two different concepts)
NTBT/E (narrower term maps to a broader term because of an exact mapping with a synonym in the target terminology)