versionSubject
version info: hp/releases/2019-04-15

All
tree view: Thing
has db xref: UMLS:C0444868
has OBO namespace: human_phenotype
id: HP:0000001
type: Class
comment: Root of all terms in the Human Phenotype Ontology.
subclass of: Thing
notation: HP:0000001

Abnormality of body height
tree view: Growth abnormality
IAO_0000115: Deviation from the norm of height with respect to that which is expected according to age and gender norms.
created by: peter
creation date: 2008-02-27T02:20:00Z
has db xref: UMLS:C4025901
has exact synonym: Abnormality of body height
has OBO namespace: human_phenotype
id: HP:0000002
type: Class
subclass of: Growth abnormality
notation: HP:0000002

Multicystic kidney dysplasia
tree view: Renal cyst
IAO_0000115: Multicystic dysplasia of the kidney is characterized by multiple cysts of varying size in the kidney and the absence of a normal pelvicaliceal system. The condition is associated with ureteral or ureteropelvic atresia, and the affected kidney is nonfunctional.
has alternative id: HP:0004715
has db xref: MSH:D021782
has db xref: SNOMEDCT_US:204962002
has db xref: SNOMEDCT_US:82525005
has db xref: UMLS:C3714581
has exact synonym: Multicystic dysplastic kidney
has exact synonym: Multicystic kidneys
has exact synonym: Multicystic renal dysplasia
has OBO namespace: human_phenotype
id: HP:0000003
type: Class
comment: Multicystic kidney dysplasia is the result of abnormal fetal renal development in which the affected kidney is replaced by multiple cysts and has little or no residual function. The vast majority of multicystic kidneys are unilateral. Multicystic kidney can be diagnosed on prenatal ultrasound.
subclass of: Renal cyst
notation: HP:0000003

HP_0000004
IAO_0000231: IAO_0000227
IAO_0100001: HP_0012823
type: Class
deprecated: true
notation: HP:0000004

Mode of inheritance
tree view: All
IAO_0000115: The pattern in which a particular genetic trait or disorder is passed from one generation to the next.
has alternative id: HP:0001453
has alternative id: HP:0001461
has db xref: UMLS:C1708511
has exact synonym: Inheritance
has OBO namespace: human_phenotype
id: HP:0000005
type: Class
subclass of: All
notation: HP:0000005

Autosomal dominant inheritance
tree view: Mode of inheritance
IAO_0000115: A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
has alternative id: HP:0001415
has alternative id: HP:0001447
has alternative id: HP:0001448
has alternative id: HP:0001451
has alternative id: HP:0001455
has alternative id: HP:0001456
has alternative id: HP:0001463
has db xref: SNOMEDCT_US:263681008
has db xref: UMLS:C0443147
has exact synonym: Autosomal dominant
has OBO namespace: human_phenotype
has related synonym: Autosomal dominant form
has related synonym: Autosomal dominant type
id: HP:0000006
type: Class
subclass of: Mode of inheritance
notation: HP:0000006

Autosomal recessive inheritance
tree view: Mode of inheritance
IAO_0000115: A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
has alternative id: HP:0001416
has alternative id: HP:0001526
has db xref: SNOMEDCT_US:258211005
has db xref: UMLS:C0441748
has db xref: UMLS:C4020899
has exact synonym: Autosomal recessive
has OBO namespace: human_phenotype
has related synonym: Autosomal recessive form
has related synonym: Autosomal recessive predisposition
id: HP:0000007
type: Class
subclass of: Mode of inheritance
notation: HP:0000007

Abnormality of female internal genitalia
tree view: Abnormal internal genitalia
tree view: HP_0010460
IAO_0000115: An abnormality of the female internal genitalia.
has db xref: UMLS:C4025900
has OBO namespace: human_phenotype
id: HP:0000008
type: Class
subclass of: Abnormal internal genitalia
subclass of: HP_0010460
notation: HP:0000008

Functional abnormality of the bladder
tree view: Abnormality of the bladder
IAO_0000115: Dysfunction of the urinary bladder.
has alternative id: HP:0004424
has alternative id: HP:0008731
has db xref: UMLS:C3806583
has exact synonym: Poor bladder function
has OBO namespace: human_phenotype
id: HP:0000009
type: Class
subclass of: Abnormality of the bladder
notation: HP:0000009

Recurrent urinary tract infections
tree view: Recurrent infections
tree view: HP_0011277
IAO_0000115: Repeated infections of the urinary tract.
has alternative id: HP:0000094
has db xref: SNOMEDCT_US:197927001
has db xref: UMLS:C0262655
has exact synonym: Frequent urinary tract infections
has exact synonym: Recurrent UTIs
has exact synonym: Urinary infection
has exact synonym: Urinary tract infection
has exact synonym: Urinary tract infections
has exact synonym: Urinary tract infections, recurrent
has OBO namespace: human_phenotype
id: HP:0000010
type: Class
comment: The urinary tract comprises the kidneys, ureters, a bladder, and a urethra.
subclass of: Recurrent infections
subclass of: HP_0011277
notation: HP:0000010

Neurogenic bladder
tree view: Functional abnormality of the bladder
IAO_0000115: A type of bladder dysfunction caused by neurologic damage. Neurogenic bladder can be flaccid or spastic. Common manifestatios of neurogenic bladder are overflow incontinence, frequency, urgency, urge incontinence, and retention.
has db xref: MSH:D001750
has db xref: SNOMEDCT_US:397732007
has db xref: SNOMEDCT_US:398064005
has db xref: UMLS:C0005697
has exact synonym: Lack of bladder control due to nervous system injury
has OBO namespace: human_phenotype
id: HP:0000011
type: Class
comment: Neurogenic bladder sphincter dysfunction (NBSD) can develop as a result of a lesion at any level in the nervous system, including the cerebral cortex, spinal cord, or peripheral nervous system. Neurologic conditions in children leading to neurogenic bladder dysfunction are predominantly congenital neural tube defects (including myelomeningocele, lipomeningocele, sacral agenesis, and occult lesions causing tethered cord). Acquired causes such as spinal cord tumors or trauma or sequelae of transverse myelitis are less frequent. Whereas from an etiologic standpoint neurogenic bladder dysfunction is a heterogeneous group, medical management will be similar irrespective of the underlying cause.
subclass of: Functional abnormality of the bladder
notation: HP:0000011

Urinary urgency
tree view: Functional abnormality of the bladder
IAO_0000115: Urge incontinence is the strong, sudden need to urinate.
has db xref: SNOMEDCT_US:75088002
has db xref: UMLS:C0085606
has db xref: UMLS:C3544092
has db xref: UMLS:C4020898
has exact synonym: Overactive bladder
has exact synonym: Urinary urgency
has OBO namespace: human_phenotype
has related synonym: Overactive bladder syndrome
has related synonym: Urgency frequency syndrome
id: HP:0000012
type: Class
comment: Urinary urgency is the strong, sudden need to urinate and is usually due to bladder spasms or contractions. This symptom is suggestive of, but not necessarily conclusive for urodynamically demonstrable detrusor hyperactivity.
subclass of: Functional abnormality of the bladder
notation: HP:0000012

Hypoplasia of the uterus
tree view: HP_0008684
IAO_0000115: Underdevelopment of the uterus.
has alternative id: HP:0001154
has alternative id: HP:0008637
has db xref: SNOMEDCT_US:35850006
has db xref: UMLS:C0266399
has exact synonym: Hypoplastic uterus
has exact synonym: Rudimentary uterus
has exact synonym: Small uterus
has exact synonym: Underdeveloped uterus
has OBO namespace: human_phenotype
id: HP:0000013
type: Class
subclass of: HP_0008684
notation: HP:0000013

Abnormality of the bladder
tree view: HP_0010936
IAO_0000115: An abnormality of the urinary bladder.
has db xref: UMLS:C0149632
has OBO namespace: human_phenotype
id: HP:0000014
type: Class
subclass of: HP_0010936
notation: HP:0000014

Bladder diverticulum
tree view: HP_0025487
IAO_0000115: Diverticulum (sac or pouch) in the wall of the urinary bladder.
has db xref: MSH:C562406
has db xref: SNOMEDCT_US:197866008
has db xref: UMLS:C0156273
has exact synonym: Bladder diverticula
has OBO namespace: human_phenotype
id: HP:0000015
type: Class
subclass of: HP_0025487
notation: HP:0000015

Urinary retention
tree view: Functional abnormality of the bladder
IAO_0000115: Inability to completely empty the urinary bladder during the process of urination.
has db xref: MSH:D016055
has db xref: SNOMEDCT_US:130951007
has db xref: SNOMEDCT_US:267064002
has db xref: SNOMEDCT_US:449491000124101
has db xref: UMLS:C0080274
has exact synonym: Increased post-void residual urine volume
has OBO namespace: human_phenotype
id: HP:0000016
type: Class
comment: Urinary retention is the inability of the urinary bladder to empty. The cause may be neurologic or nonneurologic.
subclass of: Functional abnormality of the bladder
notation: HP:0000016

Nocturia
tree view: Functional abnormality of the bladder
IAO_0000115: Abnormally increased production of urine during the night leading to an unusually frequent need to urinate.
has db xref: MSH:D053158
has db xref: SNOMEDCT_US:139394000
has db xref: UMLS:C0028734
has exact synonym: Nycturia
has OBO namespace: human_phenotype
id: HP:0000017
type: Class
comment: Often occuring as a result of heart insufficiency.
subclass of: Functional abnormality of the bladder
notation: HP:0000017

HP_0000018
IAO_0000231: IAO_0000227
IAO_0100001: Urinary bladder sphincter dysfunction
type: Class
deprecated: true
notation: HP:0000018

Urinary hesitancy
tree view: Functional abnormality of the bladder
IAO_0000115: Difficulty in beginning the process of urination.
has db xref: SNOMEDCT_US:5972002
has db xref: UMLS:C0152032
has exact synonym: Difficulty with flow
has OBO namespace: human_phenotype
id: HP:0000019
type: Class
subclass of: Functional abnormality of the bladder
notation: HP:0000019

Urinary incontinence
tree view: Functional abnormality of the bladder
tree view: HP_0031064
IAO_0000115: Loss of the ability to control the urinary bladder leading to involuntary urination.
has alternative id: HP:0006942
has alternative id: HP:0008681
has db xref: MSH:D014549
has db xref: SNOMEDCT_US:165232002
has db xref: UMLS:C0042024
has exact synonym: Bladder incontinence
has exact synonym: Loss of bladder control
has OBO namespace: human_phenotype
id: HP:0000020
type: Class
comment: Urinary incontinence can be defined as the complaint of any involuntary leakage of urine.
subclass of: Functional abnormality of the bladder
subclass of: HP_0031064
notation: HP:0000020

Megacystis
tree view: HP_0010955
IAO_0000115: Dilatation of the bladder postnatally.
has alternative id: HP:0002838
has db xref: MSH:C536139
has db xref: UMLS:C1855311
has OBO namespace: human_phenotype
id: HP:0000021
type: Class
subclass of: HP_0010955
notation: HP:0000021

Abnormality of male internal genitalia
tree view: Abnormal internal genitalia
tree view: HP_0010461
IAO_0000115: An abnormality of the male internal genitalia.
has db xref: UMLS:C4025899
has OBO namespace: human_phenotype
id: HP:0000022
type: Class
comment: The internal genital structures of the male including the testis, epididymis, vas deferens, seminal vesicle, ejaculatory duct, bulbourethral gland, and the prostate.
subclass of: Abnormal internal genitalia
subclass of: HP_0010461
notation: HP:0000022

Inguinal hernia
tree view: Hernia of the abdominal wall
IAO_0000115: Protrusion of the contents of the abdominal cavity through the inguinal canal.
has db xref: MEDDRA:10022016
has db xref: MSH:D006552
has db xref: SNOMEDCT_US:396232000
has db xref: UMLS:C0019294
has OBO namespace: human_phenotype
id: HP:0000023
in subset: hposlim core
type: Class
comment: Inguinal hernia appears as a bulge in the groin.
subclass of: Hernia of the abdominal wall
notation: HP:0000023

Prostatitis
tree view: HP_0008775
tree view: HP_0012649
IAO_0000115: The presence of inflammation of the prostate.
has db xref: MSH:D011472
has db xref: SNOMEDCT_US:9713002
has db xref: UMLS:C0033581
has exact synonym: Inflammation of the prostate
has OBO namespace: human_phenotype
id: HP:0000024
type: Class
subclass of: HP_0008775
subclass of: HP_0012649
notation: HP:0000024

Functional abnormality of male internal genitalia
tree view: HP_0012874
has db xref: UMLS:C4025898
has OBO namespace: human_phenotype
id: HP:0000025
type: Class
subclass of: HP_0012874
notation: HP:0000025

Male hypogonadism
tree view: Functional abnormality of male internal genitalia
tree view: Hypogonadism
IAO_0000115: Decreased functionality of the male gonad, i.e., of the testis, with reduced spermatogenesis or testosterone synthesis.
has alternative id: HP:0008649
has db xref: MSH:D005058
has db xref: SNOMEDCT_US:48723006
has db xref: UMLS:C0151721
has exact synonym: Decreased function of male gonad
has OBO namespace: human_phenotype
id: HP:0000026
type: Class
subclass of: Functional abnormality of male internal genitalia
subclass of: Hypogonadism
notation: HP:0000026

Azoospermia
tree view: HP_0008669
IAO_0000115: Absence of any measurable level of sperm in his semen.
has db xref: MSH:D053713
has db xref: SNOMEDCT_US:425558002
has db xref: SNOMEDCT_US:48188009
has db xref: UMLS:C0004509
has exact synonym: Absent sperm in semen
has OBO namespace: human_phenotype
id: HP:0000027
type: Class
subclass of: HP_0008669
notation: HP:0000027

Cryptorchidism
tree view: Abnormal testis morphology
IAO_0000115: Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the testis.
has alternative id: HP:0000797
has db xref: Fyler:4493
has db xref: MSH:D003456
has db xref: SNOMEDCT_US:204878001
has db xref: UMLS:C0010417
has exact synonym: Cryptorchism
has exact synonym: Undescended testes
has exact synonym: Undescended testis
has OBO namespace: human_phenotype
id: HP:0000028
type: Class
comment: The gonad is mobile and can be retracted superiorly by the cremaster muscle reflex stimulated, for instance, by cold or touch. A retracted testis is not cryptorchidism. An abdominal testis cannot be distinguished by physical examination from an (Apparently) absent testis and requires radiological (or, rarely, surgical) procedures for assessment.
subclass of: Abnormal testis morphology
notation: HP:0000028

Testicular atrophy
tree view: Abnormal testis morphology
IAO_0000115: Wasting (atrophy) of the testicle (the male gonad) manifested by a decrease in size and potentially by a loss of fertility.
has db xref: SNOMEDCT_US:17585008
has db xref: UMLS:C0156312
has exact synonym: Testicular degeneration
has OBO namespace: human_phenotype
id: HP:0000029
type: Class
subclass of: Abnormal testis morphology
notation: HP:0000029

Testicular gonadoblastoma
tree view: Gonadoblastoma
tree view: HP_0010788
IAO_0000115: The presence of a gonadoblastoma of the testis.
has db xref: NCIT:C3754
has db xref: UMLS:C1515283
has OBO namespace: human_phenotype
has related synonym: Gonadoblastoma, male
id: HP:0000030
type: Class
subclass of: Gonadoblastoma
subclass of: HP_0010788
notation: HP:0000030

Epididymitis
tree view: HP_0009714
tree view: HP_0012649
IAO_0000115: The presence of inflammation of the epididymis.
has db xref: MSH:D004823
has db xref: SNOMEDCT_US:31070006
has db xref: UMLS:C0014534
has OBO namespace: human_phenotype
id: HP:0000031
type: Class
subclass of: HP_0009714
subclass of: HP_0012649
notation: HP:0000031

Abnormality of male external genitalia
tree view: Abnormal external genitalia
tree view: HP_0010461
IAO_0000115: An abnormality of male external genitalia.
has db xref: UMLS:C4025897
has OBO namespace: human_phenotype
id: HP:0000032
type: Class
subclass of: Abnormal external genitalia
subclass of: HP_0010461
notation: HP:0000032

Ambiguous genitalia, male
tree view: Abnormality of male external genitalia
tree view: Ambiguous genitalia
IAO_0000115: Ambiguous genitalia in an individual with XY genetic gender.
has db xref: UMLS:C4021823
has exact synonym: Ambiguous genitalia in males
has OBO namespace: human_phenotype
id: HP:0000033
type: Class
subclass of: Abnormality of male external genitalia
subclass of: Ambiguous genitalia
notation: HP:0000033

Hydrocele testis
tree view: Abnormal testis morphology
IAO_0000115: Accumulation of clear fluid in the between the layers of membrane (tunica vaginalis) surrounding the testis.
has broad synonym: Hydrocele
has db xref: MSH:D006848
has db xref: SNOMEDCT_US:26614003
has db xref: SNOMEDCT_US:386152007
has db xref: SNOMEDCT_US:55434001
has db xref: UMLS:C1720771
has exact synonym: Testicular hydrocele
has OBO namespace: human_phenotype
id: HP:0000034
type: Class
subclass of: Abnormal testis morphology
notation: HP:0000034

Abnormal testis morphology
tree view: Abnormality of male external genitalia
IAO_0000115: An anomaly of the testicle (the male gonad).
has db xref: SNOMEDCT_US:55631001
has db xref: UMLS:C0266423
has exact synonym: Abnormality of the testis
has exact synonym: Anomaly of the testes
has OBO namespace: human_phenotype
id: HP:0000035
type: Class
subclass of: Abnormality of male external genitalia
notation: HP:0000035

Abnormality of the penis
tree view: Abnormality of male external genitalia
has db xref: UMLS:C4025896
has exact synonym: Abnormality of the penis
has OBO namespace: human_phenotype
id: HP:0000036
type: Class
subclass of: Abnormality of male external genitalia
notation: HP:0000036

Male pseudohermaphroditism
tree view: Abnormality of male external genitalia
IAO_0000115: Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In male pseudohermaphroditism, the genotype is male (XY) and the external genitalia are imcompletely virilized, ambiguous, or complete female. If gonads are present, they are testes.
has db xref: MSH:D058490
has db xref: SNOMEDCT_US:111332007
has db xref: UMLS:C0238395
has OBO namespace: human_phenotype
id: HP:0000037
type: Class
subclass of: Abnormality of male external genitalia
notation: HP:0000037

HP_0000038
IAO_0000231: IAO_0000227
IAO_0100001: Micropenis
type: Class
deprecated: true
notation: HP:0000038

Epispadias
tree view: HP_0100627
IAO_0000115: Displacement of the urethral opening on the dorsal (superior) surface of the penis.
has db xref: SNOMEDCT_US:406477003
has db xref: UMLS:C0563449
has OBO namespace: human_phenotype
id: HP:0000039
type: Class
comment: Epispadias may be present in a phenotypic male, female, or an individual with ambiguous genitalia. A meatus in a phenotypic male may be positioned either on the glans (glandular or balanic epispadias), the shaft (penile epispadias) or at the attachment of the penis to the abdominal wall (penopubic epispadias). Alternatively, the urethra may be an open groove along the dorsal shaft of the penis, with no readily recognized meatus. Epispadias is a frequent component of Bladder exstrophy, but should be coded separately.
subclass of: HP_0100627
notation: HP:0000039

Long penis
tree view: Abnormality of the penis
IAO_0000115: Penile length more than 2 SD above the mean for age.
has db xref: SNOMEDCT_US:88673001
has db xref: UMLS:C0269011
has exact synonym: Enlarged penis
has exact synonym: Long penis
has OBO namespace: human_phenotype
id: HP:0000040
type: Class
comment: Penile length is the distance between the midline attachment of the gently stretched, flaccid penis above the pubic symphysis and tip of the glans.
subclass of: Abnormality of the penis
notation: HP:0000040

Chordee
tree view: Abnormality of the penis
IAO_0000115: Ventral, lateral, or ventrolateral bowing of the shaft and glans penis of more than 30 degrees.
has db xref: SNOMEDCT_US:4287008
has db xref: UMLS:C0221182
has OBO namespace: human_phenotype
id: HP:0000041
type: Class
comment: The degree of variation of penis curvature is a continuum, but traditionally 30 degrees is considered the threshold for surgical intervention on chordee. Bowing usually becomes more obvious in an erect penis, but is frequently also palpable when stretching a flaccid penis. Chordee can be congenital or acquired; if the former, it can be associated with Webbed Penis or Hypospadias, which should be coded separately.
subclass of: Abnormality of the penis
notation: HP:0000041

Absent external genitalia
tree view: Abnormal external genitalia
IAO_0000115: Lack of external genitalia in a male or female individual.
has db xref: UMLS:C1848869
has exact synonym: Absent external genitalia
has OBO namespace: human_phenotype
id: HP:0000042
type: Class
subclass of: Abnormal external genitalia
notation: HP:0000042

HP_0000043
IAO_0000231: IAO_0000227
IAO_0100001: HP_0008734
type: Class
deprecated: true
notation: HP:0000043

Hypogonadotrophic hypogonadism
tree view: Hypogonadism
IAO_0000115: Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH).
has alternative id: HP:0003335
has alternative id: HP:0008224
has db xref: MSH:D007006
has db xref: SNOMEDCT_US:33927004
has db xref: UMLS:C0271623
has db xref: UMLS:C3489396
has exact synonym: Hypogonadism, hypogonadotropic
has exact synonym: Low gonadotropins (secondary hypogonadism)
has OBO namespace: human_phenotype
has related synonym: Isolated hypogonadotropic hypogonadism
id: HP:0000044
type: Class
subclass of: Hypogonadism
notation: HP:0000044

Abnormality of the scrotum
tree view: Abnormality of male external genitalia
has db xref: UMLS:C4025895
has OBO namespace: human_phenotype
id: HP:0000045
type: Class
subclass of: Abnormality of male external genitalia
notation: HP:0000045

Scrotal hypoplasia
tree view: Abnormality of the scrotum
tree view: Hypoplastic male external genitalia
has db xref: SNOMEDCT_US:204912007
has db xref: UMLS:C0431659
has exact synonym: Hypoplastic scrotum
has exact synonym: Smaller than typical growth of scrotum
has OBO namespace: human_phenotype
id: HP:0000046
type: Class
subclass of: Abnormality of the scrotum
subclass of: Hypoplastic male external genitalia
notation: HP:0000046

Hypospadias
tree view: HP_0100627
IAO_0000115: Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum.
has db xref: Fyler:4504
has db xref: SNOMEDCT_US:204888000
has db xref: UMLS:C1691215
has exact synonym: Hypospadia
has OBO namespace: human_phenotype
id: HP:0000047
type: Class
subclass of: HP_0100627
notation: HP:0000047

Bifid scrotum
tree view: Abnormality of the scrotum
IAO_0000115: Midline indentation or cleft of the scrotum.
has db xref: SNOMEDCT_US:236780002
has db xref: UMLS:C0341787
has exact synonym: Cleft of scrotum
has exact synonym: Scrotal cleft
has OBO namespace: human_phenotype
id: HP:0000048
type: Class
comment: A testis may or may not be present in each half of the scrotum.
subclass of: Abnormality of the scrotum
notation: HP:0000048

Shawl scrotum
tree view: Abnormality of the scrotum
IAO_0000115: Superior margin of the scrotum superior to the base of the penis.
has db xref: UMLS:C1858539
has exact synonym: Overriding scrotum
has exact synonym: Scrotum surrounds penis
has OBO namespace: human_phenotype
id: HP:0000049
type: Class
comment: A congenital overriding scrotum may disappear with growth and development, especially during puberty. If the entire scrotum is located superior to the penis, the term Penoscrotal transposition is used instead.
subclass of: Abnormality of the scrotum
notation: HP:0000049

Hypoplastic male external genitalia
tree view: Abnormality of male external genitalia
tree view: External genital hypoplasia
IAO_0000115: Underdevelopment of part or all of the male external reproductive organs (which include the penis, the scrotum and the urethra).
has alternative id: HP:0008710
has alternative id: HP:0008721
has db xref: UMLS:C1852534
has exact synonym: Hypoplastic male genitalia
has exact synonym: Small male external genitalia
has exact synonym: Underdeveloped male genitalia
has OBO namespace: human_phenotype
id: HP:0000050
type: Class
subclass of: Abnormality of male external genitalia
subclass of: External genital hypoplasia
notation: HP:0000050

Perineal hypospadias
tree view: Hypospadias
IAO_0000115: Hypospadias with location of the urethral meatus in the perineal region.
has db xref: SNOMEDCT_US:204890004
has db xref: UMLS:C0452148
has OBO namespace: human_phenotype
id: HP:0000051
type: Class
subclass of: Hypospadias
notation: HP:0000051

Urethral atresia, male
tree view: Urethral atresia
IAO_0000115: Congenital anomaly characterized by closure or failure to develop an opening in the urethra in males.
has db xref: UMLS:C4025894
has OBO namespace: human_phenotype
id: HP:0000052
type: Class
subclass of: Urethral atresia
notation: HP:0000052

Macroorchidism
tree view: HP_0045058
IAO_0000115: The presence of abnormally large testes.
has db xref: UMLS:C1263023
has exact synonym: Large testicles
has exact synonym: Large testis
has OBO namespace: human_phenotype
id: HP:0000053
type: Class
subclass of: HP_0045058
notation: HP:0000053

Micropenis
tree view: HP_0008736
IAO_0000115: Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm.
has alternative id: HP:0000038
has db xref: SNOMEDCT_US:34911001
has db xref: UMLS:C0266435
has exact synonym: Short penis
has exact synonym: Small penis
has OBO namespace: human_phenotype
id: HP:0000054
type: Class
subclass of: HP_0008736
notation: HP:0000054

Abnormality of female external genitalia
tree view: Abnormal external genitalia
tree view: HP_0010460
IAO_0000115: An abnormality of the female external genitalia.
has db xref: UMLS:C4021822
has exact synonym: Abnormal female external genitalia
has OBO namespace: human_phenotype
id: HP:0000055
type: Class
subclass of: Abnormal external genitalia
subclass of: HP_0010460
notation: HP:0000055

Abnormality of the clitoris
tree view: Abnormality of female external genitalia
IAO_0000115: An abnormality of the clitoris.
has db xref: UMLS:C4025893
has exact synonym: Abnormality of the clit
has OBO namespace: human_phenotype
id: HP:0000056
type: Class
subclass of: Abnormality of female external genitalia
notation: HP:0000056

obsolete Clitoromegaly
IAO_0000231: IAO_0000227
IAO_0100001: HP_0008665
IAO_0100001: HP:0008665
has OBO namespace: human_phenotype
id: HP:0000057
type: Class
deprecated: true
notation: HP:0000057

Abnormality of the labia
tree view: Abnormality of female external genitalia
IAO_0000115: An anomaly of the labia, the externally visible portions of the vulva.
has db xref: UMLS:C4025892
has OBO namespace: human_phenotype
id: HP:0000058
type: Class
subclass of: Abnormality of female external genitalia
notation: HP:0000058

Hypoplastic labia majora
tree view: Labial hypoplasia
tree view: HP_0012881
IAO_0000115: Undergrowth of the outer labia.
has db xref: SNOMEDCT_US:289469003
has db xref: UMLS:C0566899
has exact synonym: Hypoplasia of labia majora
has exact synonym: Small labia majora
has exact synonym: Underdeveloped vaginal lips
has OBO namespace: human_phenotype
id: HP:0000059
type: Class
subclass of: Labial hypoplasia
subclass of: HP_0012881
notation: HP:0000059

Clitoral hypoplasia
tree view: HP_0012815
tree view: HP_0040255
IAO_0000115: Developmental hypoplasia of the clitoris.
has db xref: UMLS:C1844527
has exact synonym: Hypoplastic clitoris
has exact synonym: Small clitoris
has exact synonym: Underdeveloped clit
has OBO namespace: human_phenotype
id: HP:0000060
type: Class
subclass of: HP_0012815
subclass of: HP_0040255
notation: HP:0000060

Ambiguous genitalia, female
tree view: Abnormality of female external genitalia
tree view: Ambiguous genitalia
IAO_0000115: Ambiguous genitalia in an individual with XX genetic gender.
has alternative id: HP:0008690
has db xref: UMLS:C1859980
has db xref: UMLS:C4025891
has exact synonym: Atypical appearance of female genitals
has OBO namespace: human_phenotype
has related synonym: Ambiguous genitalia due to virilization
id: HP:0000061
type: Class
subclass of: Abnormality of female external genitalia
subclass of: Ambiguous genitalia
notation: HP:0000061

Ambiguous genitalia
tree view: Abnormal external genitalia
IAO_0000115: A genital phenotype that is not clearly assignable to a single gender. Ambiguous genitalia can be evaluated using the Prader scale: Prader 0: Normal female external genitalia. Prader 1: Female external genitalia with clitoromegaly. Prader 2: Clitoromegaly with partial labial fusion forming a funnel-shaped urogenital sinus. Prader 3: Increased phallic enlargement. Complete labioscrotal fusion forming a urogenital sinus with a single opening. Prader 4: Complete scrotal fusion with urogenital opening at the base or on the shaft of the phallus. Prader 5: Normal male external genitalia. The diagnosis of ambiguous genitalia is made for Prader 1-4.
has alternative id: HP:0008685
has alternative id: HP:0008693
has db xref: MSH:D012734
has db xref: SNOMEDCT_US:21321009
has db xref: UMLS:C0266362
has exact synonym: Ambiguous external genitalia
has exact synonym: Ambiguous external genitalia at birth
has exact synonym: Intersex genitalia
has OBO namespace: human_phenotype
id: HP:0000062
type: Class
comment: Note that this term can include or combine variations in size and shape, with partial or complete absence of structures. It is preferable to describe the individual components, which are defined below. It is nonetheless a widely used bundled term and as such is retained here. The distinction of this finding from a marked degree of Hypospadias is an example of how this term can be problematic. Genetic gender is determined at fertilization, whereby the presence of a Y chromosome determines male gender. Normally, genetic gender determines gonadal gender which in turn determines phenotypic gender. Testicular development is an active process requiring expression of the primary testis determining gene SRY, which is located on the Y chromosome.
subclass of: Abnormal external genitalia
notation: HP:0000062

Fused labia minora
tree view: HP_0012880
IAO_0000115: Fusion of the labia minora as a result of labial adhesions resulting in vaginal obstruction.
has db xref: UMLS:C1837532
has exact synonym: Fused inner lips
has OBO namespace: human_phenotype
id: HP:0000063
type: Class
subclass of: HP_0012880
notation: HP:0000063

Hypoplastic labia minora
tree view: Labial hypoplasia
tree view: HP_0012880
has db xref: UMLS:C1849295
has exact synonym: Underdeveloped inner lips
has OBO namespace: human_phenotype
id: HP:0000064
type: Class
subclass of: Labial hypoplasia
subclass of: HP_0012880
notation: HP:0000064

Labial hypertrophy
tree view: Abnormality of the labia
has db xref: SNOMEDCT_US:16924008
has db xref: UMLS:C0404531
has exact synonym: Enlargement of the labia
has exact synonym: Enlargement of the vaginal lips
has OBO namespace: human_phenotype
id: HP:0000065
type: Class
subclass of: Abnormality of the labia
notation: HP:0000065

Labial hypoplasia
tree view: Abnormality of the labia
tree view: HP_0012815
has db xref: UMLS:C1850325
has exact synonym: Hypoplastic labia
has exact synonym: Underdeveloped labia
has OBO namespace: human_phenotype
id: HP:0000066
type: Class
subclass of: Abnormality of the labia
subclass of: HP_0012815
notation: HP:0000066

Urethral atresia, female
tree view: Abnormality of female external genitalia
tree view: Urethral atresia
IAO_0000115: Congenital anomaly characterized by closure or failure to develop an opening in the urethra in females.
has db xref: UMLS:C4025890
has OBO namespace: human_phenotype
id: HP:0000067
type: Class
subclass of: Abnormality of female external genitalia
subclass of: Urethral atresia
notation: HP:0000067

Urethral atresia
tree view: Abnormality of the urethra
IAO_0000115: Congenital anomaly characterized by closure or failure to develop an opening in the urethra.
has db xref: UMLS:C1610065
has OBO namespace: human_phenotype
id: HP:0000068
type: Class
subclass of: Abnormality of the urethra
notation: HP:0000068

Abnormality of the ureter
tree view: HP_0010935
IAO_0000115: An abnormality of the ureter.
has alternative id: HP:0006001
has db xref: UMLS:C1840382
has exact synonym: Abnormality of the ureters
has exact synonym: Ureter issue
has exact synonym: Ureteral anomalies
has OBO namespace: human_phenotype
id: HP:0000069
type: Class
subclass of: HP_0010935
notation: HP:0000069

Ureterocele
tree view: Abnormality of the ureter
IAO_0000115: A ureterocele is a congenital saccular dilatation of the distal segment of the ureter.
has db xref: MSH:D014518
has db xref: SNOMEDCT_US:12818004
has db xref: UMLS:C0041960
has OBO namespace: human_phenotype
id: HP:0000070
type: Class
subclass of: Abnormality of the ureter
notation: HP:0000070

Ureteral stenosis
tree view: HP_0006000
IAO_0000115: The presence of a stenotic, i.e., constricted ureter.
has db xref: SNOMEDCT_US:95574003
has db xref: UMLS:C0521618
has exact synonym: Narrowing of the ureter
has OBO namespace: human_phenotype
id: HP:0000071
type: Class
subclass of: HP_0006000
notation: HP:0000071

Hydroureter
tree view: Abnormality of the ureter
IAO_0000115: The distention of the ureter with urine.
has alternative id: HP:0006003
has db xref: SNOMEDCT_US:69758005
has db xref: SNOMEDCT_US:95576001
has db xref: UMLS:C0521620
has db xref: UMLS:C4020897
has exact synonym: Megaureter
has exact synonym: Swelling of ureter
has exact synonym: Ureteral dilatation
has OBO namespace: human_phenotype
has related synonym: Uroureter
id: HP:0000072
type: Class
subclass of: Abnormality of the ureter
notation: HP:0000072

Ureteral duplication
tree view: Abnormality of the ureter
IAO_0000115: A developmental anomaly characterized by the presence of two, instead of one, ureter connecting a kidney to the bladder.
has db xref: SNOMEDCT_US:49496001
has db xref: UMLS:C0221365
has exact synonym: Double ureter
has OBO namespace: human_phenotype
id: HP:0000073
type: Class
subclass of: Abnormality of the ureter
notation: HP:0000073

Ureteropelvic junction obstruction
tree view: Ureteral stenosis
IAO_0000115: Blockage of urine flow from the renal pelvis to the proximal ureter.
has db xref: MSH:C537373
has db xref: SNOMEDCT_US:95575002
has db xref: UMLS:C0521619
has exact synonym: Pelviureteric junction obstruction
has OBO namespace: human_phenotype
id: HP:0000074
type: Class
subclass of: Ureteral stenosis
notation: HP:0000074

Renal duplication
tree view: HP_0012210
IAO_0000115: A congenital anomaly of the urinary tract, in which the kidney is duplicated and is drained via two separate renal pelves and ureters.
created by: peter
creation date: 2008-02-25T12:45:00Z
has db xref: SNOMEDCT_US:30275001
has db xref: UMLS:C0266298
has exact synonym: Extra kidney
has OBO namespace: human_phenotype
has related synonym: Supernumerary kidney
id: HP:0000075
type: Class
subclass of: HP_0012210
notation: HP:0000075

Vesicoureteral reflux
tree view: Functional abnormality of the bladder
tree view: Abnormality of the ureter
IAO_0000115: Abnormal (retrograde) movement of urine from the bladder into ureters or kidneys related to inadequacy of the valvular mechanism at the ureterovesicular junction or other causes.
has alternative id: HP:0005998
has alternative id: HP:0006002
has alternative id: HP:0008667
has db xref: Fyler:4510
has db xref: MSH:D014718
has db xref: SNOMEDCT_US:197811007
has db xref: UMLS:C0042580
has exact synonym: Ureteral reflux
has exact synonym: Ureteric reflux
has exact synonym: Vesicoureteric reflux
has OBO namespace: human_phenotype
id: HP:0000076
type: Class
subclass of: Functional abnormality of the bladder
subclass of: Abnormality of the ureter
notation: HP:0000076

Abnormality of the kidney
tree view: HP_0010935
IAO_0000115: An abnormality of the kidney.
has db xref: MSH:D007674
has db xref: SNOMEDCT_US:44513007
has db xref: SNOMEDCT_US:90708001
has db xref: UMLS:C0022658
has db xref: UMLS:C0266292
has exact synonym: Abnormal kidney
has exact synonym: Abnormality of the kidney
has exact synonym: Renal anomalies
has exact synonym: Renal anomaly
has OBO namespace: human_phenotype
id: HP:0000077
type: Class
comment: The kidney is a paired organ whose primary function is the production of urine.
subclass of: HP_0010935
notation: HP:0000077

Abnormality of the genital system
tree view: Abnormality of the genitourinary system
IAO_0000115: An abnormality of the genital system.
has db xref: UMLS:C0281966
has db xref: UMLS:C0744356
has exact synonym: Genital abnormalities
has exact synonym: Genital abnormality
has exact synonym: Genital anomalies
has exact synonym: Genital defects
has OBO namespace: human_phenotype
has related synonym: Abnormality of the reproductive system
id: HP:0000078
type: Class
subclass of: Abnormality of the genitourinary system
notation: HP:0000078

Abnormality of the urinary system
tree view: Abnormality of the genitourinary system
IAO_0000115: An abnormality of the urinary system.
has db xref: UMLS:C4021821
has exact synonym: Urinary tract abnormalities
has exact synonym: Urinary tract abnormality
has exact synonym: Urinary tract anomalies
has OBO namespace: human_phenotype
id: HP:0000079
type: Class
subclass of: Abnormality of the genitourinary system
notation: HP:0000079

Abnormality of reproductive system physiology
tree view: Abnormality of the genital system
IAO_0000115: An abnormal functionality of the genital system.
has broad synonym: Abnormality of genital physiology
has db xref: UMLS:C4020896
has db xref: UMLS:C4021820
has exact synonym: Abnormality of reproductive system physiology
has exact synonym: Genital functional abnormality
has OBO namespace: human_phenotype
id: HP:0000080
type: Class
subclass of: Abnormality of the genital system
notation: HP:0000080

Duplicated collecting system
tree view: Abnormal renal collecting system morphology
IAO_0000115: A duplication of the collecting system of the kidney, defined as a kidney with two (instead of, normally, one) pyelocaliceal systems. The pyelocaliceal system is comprised of the renal pelvis and calices. The duplicated renal collecting system can be associated with a single ureter or with double ureters. In the latter case, the two ureters empty separately into the bladder or fuse to form a single ureteral orifice.
created by: peter
creation date: 2008-02-25T12:45:00Z
has db xref: UMLS:C1858565
has exact synonym: Double collecting system
has exact synonym: Double urinary collecting systems on intravenous pyelography
has exact synonym: Duplex collecting system
has exact synonym: Duplicated renal collecting system
has OBO namespace: human_phenotype
id: HP:0000081
type: Class
subclass of: Abnormal renal collecting system morphology
notation: HP:0000081

HP_0000082
IAO_0000231: IAO_0000227
IAO_0100001: HP_0012211
type: Class
deprecated: true
notation: HP:0000082

Renal insufficiency
tree view: HP_0012211
IAO_0000115: A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.
has alternative id: HP:0000084
has alternative id: HP:0004723
has db xref: MSH:D051437
has db xref: SNOMEDCT_US:236423003
has db xref: SNOMEDCT_US:42399005
has db xref: UMLS:C0035078
has db xref: UMLS:C1565489
has db xref: UMLS:C1839604
has exact synonym: Renal failure
has exact synonym: Renal failure in adulthood
has OBO namespace: human_phenotype
id: HP:0000083
type: Class
subclass of: HP_0012211
notation: HP:0000083

HP_0000084
IAO_0000231: IAO_0000227
IAO_0100001: Renal insufficiency
type: Class
deprecated: true
notation: HP:0000084

Horseshoe kidney
tree view: HP_0100542
IAO_0000115: A connection of the right and left kidney by an isthmus of functioning renal parenchyma or fibrous tissue that crosses the midline.
has broad synonym: Fused kidneys
has db xref: Fyler:4507
has db xref: MSH:D000069337
has db xref: SNOMEDCT_US:41729002
has db xref: UMLS:C0221353
has exact synonym: Horseshoe kidney
has exact synonym: Horseshoe kidneys
has OBO namespace: human_phenotype
id: HP:0000085
type: Class
subclass of: HP_0100542
notation: HP:0000085

Ectopic kidney
tree view: HP_0100542
IAO_0000115: A developmental defect in which a kidney is located in an abnormal anatomic position.
has db xref: SNOMEDCT_US:16507009
has db xref: UMLS:C0238207
has exact synonym: Abnormal kidney location
has exact synonym: Displaced kidney
has exact synonym: Ectopic kidneys
has exact synonym: Renal ectopia
has OBO namespace: human_phenotype
id: HP:0000086
type: Class
subclass of: HP_0100542
notation: HP:0000086

HP_0000087
IAO_0000231: IAO_0000227
IAO_0100001: HP_0012211
type: Class
deprecated: true
notation: HP:0000087

HP_0000088
IAO_0000231: IAO_0000227
IAO_0100001: Renal cyst
type: Class
deprecated: true
notation: HP:0000088

Renal hypoplasia
tree view: HP_0008678
IAO_0000115: Hypoplasia of the kidney.
has alternative id: HP:0001968
has alternative id: HP:0004741
has alternative id: HP:0008641
has db xref: SNOMEDCT_US:32659003
has db xref: UMLS:C0266295
has exact synonym: Hypoplastic kidney
has exact synonym: Hypoplastic kidneys
has exact synonym: Small kidneys
has exact synonym: Underdeveloped kidneys
has OBO namespace: human_phenotype
id: HP:0000089
type: Class
comment: Oligomeganephronic renal hypoplasia differs from simple hypoplasia, in which the renal mass is reduced but the number of nephrons is normal.
subclass of: HP_0008678
notation: HP:0000089

Nephronophthisis
tree view: HP_0100957
IAO_0000115: Presence of cysts at the corticomedullary junction of the kidney in combination with tubulointerstitial fibrosis.
has alternative id: HP:0004748
has db xref: SNOMEDCT_US:204958008
has db xref: UMLS:C0687120
has exact synonym: juvenile nephronophthisis
has OBO namespace: human_phenotype
id: HP:0000090
type: Class
comment: Nephronophthisis is here regarded as a phenotypic feature. The disease of the same name results in progressive symmetrical destruction of the kidneys involving both the tubules and glomeruli.
subclass of: HP_0100957
notation: HP:0000090

Abnormal renal tubule morphology
tree view: HP_0012575
IAO_0000115: An abnormality of the renal tubules.
has db xref: UMLS:C4021826
has exact synonym: Abnormality of the renal tubule
has OBO namespace: human_phenotype
id: HP:0000091
type: Class
comment: The renal tubules are reabsorptive canals that are involved in the secreting, collecting, and conducting of the urine.
subclass of: HP_0012575
notation: HP:0000091

Tubular atrophy
tree view: Abnormal renal tubule morphology
IAO_0000115: The presence of renal tubules with thick redundant basement membranes, or a reduction of greater than 50% in tubular diameter compared to surrounding non-atrophic tubules.
has alternative id: HP:0005578
has db xref: UMLS:C1858395
has exact synonym: Renal tubular cell atrophy
has OBO namespace: human_phenotype
id: HP:0000092
type: Class
subclass of: Abnormal renal tubule morphology
notation: HP:0000092

Proteinuria
tree view: Abnormality of urine homeostasis
IAO_0000115: Increased levels of protein in the urine.
has db xref: MSH:D011507
has db xref: SNOMEDCT_US:29738008
has db xref: UMLS:C0033687
has exact synonym: High urine protein levels
has exact synonym: Protein in urine
has OBO namespace: human_phenotype
id: HP:0000093
type: Class
subclass of: Abnormality of urine homeostasis
notation: HP:0000093

HP_0000094
IAO_0000231: IAO_0000227
IAO_0100001: Recurrent urinary tract infections
type: Class
deprecated: true
notation: HP:0000094

Abnormality of renal glomerulus morphology
tree view: HP_0012575
tree view: HP_0031263
IAO_0000115: A structural anomaly of the glomerulus.
has db xref: UMLS:C4025889
has OBO namespace: human_phenotype
id: HP:0000095
type: Class
subclass of: HP_0012575
subclass of: HP_0031263
notation: HP:0000095

Glomerulosclerosis
tree view: Abnormality of renal glomerulus morphology
IAO_0000115: Accumulation of scar tissue within the glomerulus.
has alternative id: HP:0030761
has broad synonym: Renal glomerular fibrosis
has db xref: SNOMEDCT_US:197661001
has db xref: SNOMEDCT_US:82646005
has db xref: UMLS:C0178664
has OBO namespace: human_phenotype
id: HP:0000096
type: Class
subclass of: Abnormality of renal glomerulus morphology
notation: HP:0000096

Focal segmental glomerulosclerosis
tree view: Glomerulosclerosis
IAO_0000115: Segmental accumulation of scar tissue in individual (but not all) glomeruli.
has alternative id: HP:0004747
has db xref: MSH:D005923
has db xref: SNOMEDCT_US:236403004
has db xref: SNOMEDCT_US:25821008
has db xref: UMLS:C0017668
has exact synonym: Focal and segmental glomerular sclerosis
has exact synonym: Focal and segmental glomerulosclerosis
has exact synonym: focal glomerulosclerosis
has OBO namespace: human_phenotype
id: HP:0000097
type: Class
subclass of: Glomerulosclerosis
notation: HP:0000097

Tall stature
tree view: Abnormality of body height
IAO_0000115: A height above that which is expected according to age and gender norms.
created by: peter
creation date: 2008-02-27T02:21:00Z
has alternative id: HP:0001527
has alternative id: HP:0003515
has alternative id: HP:0003516
has db xref: SNOMEDCT_US:248328003
has db xref: UMLS:C0241240
has exact synonym: Accelerated linear growth
has exact synonym: Increased body height
has exact synonym: Increased linear growth
has exact synonym: Tall stature
has OBO namespace: human_phenotype
id: HP:0000098
type: Class
subclass of: Abnormality of body height
notation: HP:0000098

Glomerulonephritis
tree view: Abnormality of renal glomerulus morphology
tree view: Nephritis
IAO_0000115: Inflammation of the renal glomeruli.
has db xref: MSH:D005921
has db xref: SNOMEDCT_US:36171008
has db xref: UMLS:C0017658
has exact synonym: Glomerular nephritis
has OBO namespace: human_phenotype
id: HP:0000099
type: Class
subclass of: Abnormality of renal glomerulus morphology
subclass of: Nephritis
notation: HP:0000099

Nephrotic syndrome
tree view: HP_0012211
IAO_0000115: Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria. Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria and hypoalbuminemia, edema, and hyperlipidemia.
has alternative id: HP:0000801
has alternative id: HP:0004718
has alternative id: HP:0008638
has alternative id: HP:0008727
has db xref: MSH:D009404
has db xref: SNOMEDCT_US:52254009
has db xref: UMLS:C0027726
has exact synonym: Nephrosis
has OBO namespace: human_phenotype
id: HP:0000100
type: Class
comment: In adults, nephrotic syndrome is characterized by protein excretion of 3.5 g or more per day. In children, nephrotic syndrome is accompanied by protein excretion of more than 40 mg/m2/h.
subclass of: HP_0012211
notation: HP:0000100

HP_0000101
IAO_0000231: IAO_0000227
IAO_0100001: Stage 5 chronic kidney disease
type: Class
deprecated: true
notation: HP:0000101

HP_0000102
IAO_0000231: IAO_0000227
IAO_0100001: Nephrolithiasis
type: Class
deprecated: true
notation: HP:0000102

Polyuria
tree view: HP_0012590
IAO_0000115: An increased rate of urine production.
has alternative id: HP:0200060
has db xref: MSH:D011141
has db xref: SNOMEDCT_US:28442001
has db xref: SNOMEDCT_US:56574000
has db xref: SNOMEDCT_US:718402002
has db xref: UMLS:C0032617
has exact synonym: Increased urine output
has OBO namespace: human_phenotype
id: HP:0000103
type: Class
comment: An excessive volume of urination for an adult is more than 2.5 liters of urine per day.
subclass of: HP_0012590
notation: HP:0000103

Renal agenesis
tree view: HP_0008678
IAO_0000115: Agenesis, that is, failure of the kidney to develop during embryogenesis and development.
has alternative id: HP:0000785
has alternative id: HP:0004745
has alternative id: HP:0008680
has db xref: Fyler:4503
has db xref: SNOMEDCT_US:204942005
has db xref: UMLS:C0542519
has exact synonym: Absent kidney
has exact synonym: Missing kidney
has exact synonym: Renal aplasia
has OBO namespace: human_phenotype
id: HP:0000104
type: Class
comment: Renal agenesis can occur as a unilateral or bilateral trait.
subclass of: HP_0008678
notation: HP:0000104

Enlarged kidney
tree view: HP_0012210
IAO_0000115: An abnormal increase in the size of the kidney.
has db xref: SNOMEDCT_US:300444006
has db xref: UMLS:C0542518
has exact synonym: Enlarged kidney
has exact synonym: Large kidneys
has exact synonym: Nephromegaly
has exact synonym: Renal enlargement
has OBO namespace: human_phenotype
has related synonym: Large kidney
id: HP:0000105
type: Class
comment: The main causes of large kidney are hydronephrosis, polycystic disease, renal cell carcinoma, nephroblastoma/Wilm's tumor (in children), and solitary cysts. If possible, a specific term should be used instead of this one. There are several ways of diagnosing enlarged kidney including intravenous urography.
subclass of: HP_0012210
notation: HP:0000105

HP_0000106
IAO_0000231: IAO_0000227
IAO_0100001: HP_0012622
type: Class
deprecated: true
notation: HP:0000106

Renal cyst
tree view: HP_0012210
IAO_0000115: A fluid filled sac in the kidney.
has alternative id: HP:0000088
has alternative id: HP:0000109
has db xref: MSH:D052177
has db xref: UMLS:C0022679
has db xref: UMLS:C3887499
has exact synonym: Kidney cyst
has OBO namespace: human_phenotype
has related synonym: Cystic kidney disease
has related synonym: Cystic kidneys
has related synonym: Renal cysts
id: HP:0000107
type: Class
subclass of: HP_0012210
notation: HP:0000107

Renal corticomedullary cysts
tree view: Renal cyst
tree view: HP_0011035
tree view: HP_0100957
IAO_0000115: The presence of multiple cysts at the border between the renal cortex and medulla.
has db xref: UMLS:C1968619
has exact synonym: Corticomedullary renal cysts
has OBO namespace: human_phenotype
has related synonym: Renal corticomedullary cystic disease
id: HP:0000108
type: Class
subclass of: Renal cyst
subclass of: HP_0011035
subclass of: HP_0100957
notation: HP:0000108

HP_0000109
IAO_0000231: IAO_0000227
IAO_0100001: Renal cyst
type: Class
deprecated: true
notation: HP:0000109

Renal dysplasia
tree view: HP_0012210
IAO_0000115: The presence of developmental dysplasia of the kidney.
has alternative id: HP:0000116
has alternative id: HP:0004721
has db xref: MSH:C563261
has db xref: SNOMEDCT_US:204949001
has db xref: UMLS:C1619700
has db xref: UMLS:C3536714
has exact synonym: Dysplastic kidneys
has exact synonym: Renal adysplasia
has OBO namespace: human_phenotype
id: HP:0000110
type: Class
subclass of: HP_0012210
notation: HP:0000110

Renal juxtaglomerular cell hypertrophy/hyperplasia
tree view: Abnormality of renal glomerulus morphology
IAO_0000115: Increased number and size of the juxtaglomerular cells.
has db xref: UMLS:C1866496
has OBO namespace: human_phenotype
id: HP:0000111
type: Class
subclass of: Abnormality of renal glomerulus morphology
notation: HP:0000111

Nephropathy
tree view: HP_0012211
IAO_0000115: A nonspecific term referring to disease or damage of the kidneys.
has broad synonym: Kidney damage
has broad synonym: Kidney disease
has db xref: MSH:D007674
has db xref: SNOMEDCT_US:90708001
has db xref: UMLS:C0022658
has db xref: UMLS:C1408258
has OBO namespace: human_phenotype
id: HP:0000112
type: Class
subclass of: HP_0012211
notation: HP:0000112

Polycystic kidney dysplasia
tree view: Renal cyst
IAO_0000115: The presence of multiple cysts in both kidneys.
has alternative id: HP:0004716
has alternative id: HP:0004739
has alternative id: HP:0004740
has alternative id: HP:0008645
has alternative id: HP:0008673
has alternative id: HP:0008699
has db xref: Fyler:4508
has db xref: MSH:D007690
has db xref: SNOMEDCT_US:82525005
has db xref: UMLS:C0022680
has db xref: UMLS:C1567435
has exact synonym: Enlarged polycystic kidneys
has exact synonym: Polycystic kidneys
has OBO namespace: human_phenotype
has related synonym: Polycystic kidney disease
id: HP:0000113
type: Class
comment: Polycystic kidney disease (PKD) is a leading cause of end-stage renal disease. Most commonly, PKD arises as an inherited trait. Tremendous enlargement of both kidneys is characteristic of the autosomal dominant form of PKD, with up to hundreds or thousands of renal cysts. This term does not refer to the disease entity but rather to the finding of numerous cysts in both kidneys.
subclass of: Renal cyst
notation: HP:0000113

Proximal tubulopathy
tree view: Renal tubular dysfunction
IAO_0000115: Dysfunction of the proximal tubule, which is the portion of the duct system of the nephron of the kidney which leads from Bowman's capsule to the loop of Henle.
has alternative id: HP:0000806
has db xref: UMLS:C1839603
has exact synonym: Proximal renal tubule defect
has exact synonym: Proximal renal tubulopathy
has exact synonym: Proximal tubular defect
has exact synonym: Proximal tubule dysfunction
has exact synonym: Selective proximal tubular damage
has OBO namespace: human_phenotype
id: HP:0000114
type: Class
subclass of: Renal tubular dysfunction
notation: HP:0000114

HP_0000115
IAO_0000231: IAO_0000227
IAO_0100001: Nephroblastoma
type: Class
deprecated: true
notation: HP:0000115

HP_0000116
IAO_0000231: IAO_0000227
IAO_0100001: Renal dysplasia
type: Class
deprecated: true
notation: HP:0000116

Renal phosphate wasting
tree view: HP_0012599
IAO_0000115: High urine phosphate in the presence of hypophosphatemia.
has db xref: UMLS:C1845169
has exact synonym: Decreased renal tubular phosphate reabsorption
has exact synonym: Decreased tubular maximum for phosphate reabsorption per glomerular filtration rate
has exact synonym: Tubular phosphate reabsorption low
has OBO namespace: human_phenotype
id: HP:0000117
type: Class
subclass of: HP_0012599
notation: HP:0000117

Phenotypic abnormality
tree view: All
IAO_0000115: A phenotypic abnormality.
has db xref: UMLS:C4021819
has exact synonym: Organ abnormality
has OBO namespace: human_phenotype
id: HP:0000118
type: Class
comment: This is the root of the phenotypic abnormality subontology of the HPO.
subclass of: All
notation: HP:0000118

Abnormality of the genitourinary system
tree view: Phenotypic abnormality
IAO_0000115: The presence of any abnormality of the genitourinary system.
has alternative id: HP:0008658
has alternative id: HP:0008688
has alternative id: HP:0008704
has alternative id: HP:0008713
has db xref: MSH:D014564
has db xref: SNOMEDCT_US:287085006
has db xref: SNOMEDCT_US:42030000
has db xref: UMLS:C0042063
has db xref: UMLS:C0080276
has db xref: UMLS:C4020895
has exact synonym: Abnormality of the GU system
has exact synonym: Genitourinary abnormality
has exact synonym: Genitourinary tract anomalies
has exact synonym: Genitourinary tract malformation
has exact synonym: Urogenital abnormalities
has exact synonym: Urogenital anomalies
has OBO namespace: human_phenotype
has related synonym: Genitourinary disease
has related synonym: Genitourinary dysplasia
id: HP:0000119
type: Class
subclass of: Phenotypic abnormality
notation: HP:0000119

HP_0000120
IAO_0000231: IAO_0000227
IAO_0100001: HP_0012213
type: Class
deprecated: true
notation: HP:0000120

Nephrocalcinosis
tree view: HP_0012210
IAO_0000115: Nephrocalcinosis is the deposition of calcium salts in renal parenchyma.
has db xref: MSH:D009397
has db xref: SNOMEDCT_US:48638002
has db xref: UMLS:C0027709
has db xref: UMLS:C4280679
has exact synonym: Too much calcium deposited in kidneys
has OBO namespace: human_phenotype
has related synonym: Increased calcium level in kidney
id: HP:0000121
type: Class
comment: Nephrocalcinosis can be intratubular or interstitial, and can be diagnosed by means of a radiologic exam (plain radiographs, ultrasonograms, or computed tomography scans) or via microscopic examination of the renal tissues. The term nephrocalcinosis most often applies to a generalized increase in renal calcium content.
subclass of: HP_0012210
notation: HP:0000121

Unilateral renal agenesis
tree view: Renal agenesis
IAO_0000115: A unilateral form of agenesis of the kidney.
has db xref: Fyler:4509
has db xref: SNOMEDCT_US:55726006
has db xref: UMLS:C0266294
has exact synonym: Absent kidney on one side
has exact synonym: Missing one kidney
has exact synonym: Single kidney
has exact synonym: Unilateral kidney agenesis
has OBO namespace: human_phenotype
id: HP:0000122
type: Class
subclass of: Renal agenesis
notation: HP:0000122

Nephritis
tree view: HP_0012211
tree view: HP_0012649
IAO_0000115: The presence of inflammation affecting the kidney.
has alternative id: HP:0008634
has db xref: MSH:D009393
has db xref: SNOMEDCT_US:52845002
has db xref: UMLS:C0027697
has exact synonym: Kidney inflammation
has OBO namespace: human_phenotype
id: HP:0000123
type: Class
subclass of: HP_0012211
subclass of: HP_0012649
notation: HP:0000123

Renal tubular dysfunction
tree view: HP_0012211
IAO_0000115: Abnormal function of the renal tubule. The basic functional unit of the kidney, the nephron, consists of a renal corpuscle attached to a renal tubule, with roughly 0.8 to 1.5 nephrons per adult kidney. The functions of the renal tubule include reabsorption of water, electrolytes, glucose, and amino acids and secretion of substances such as uric acid.
has db xref: SNOMEDCT_US:95568003
has db xref: UMLS:C0151747
has exact synonym: Abnormal function of filtrating structures in kidney
has exact synonym: Renal tubular defect
has OBO namespace: human_phenotype
has related synonym: Renal tubular disease
id: HP:0000124
type: Class
subclass of: HP_0012211
notation: HP:0000124

Pelvic kidney
tree view: Ectopic kidney
IAO_0000115: A developmental defect in which a kidney is located in an abnormal anatomic position within the pelvis.
has db xref: SNOMEDCT_US:56108007
has db xref: UMLS:C0221209
has exact synonym: Sacral kidney
has OBO namespace: human_phenotype
id: HP:0000125
type: Class
subclass of: Ectopic kidney
notation: HP:0000125

Hydronephrosis
tree view: HP_0010946
IAO_0000115: Severe distention of the kidney with dilation of the renal pelvis and calices.
has db xref: Fyler:4502
has db xref: MSH:D006869
has db xref: SNOMEDCT_US:43064006
has db xref: UMLS:C0020295
has OBO namespace: human_phenotype
id: HP:0000126
type: Class
comment: Hydronephrosis can be caused by reflux or by retrograde pressure on the kidney when the flow of urine is obstructed.
subclass of: HP_0010946
notation: HP:0000126

Renal salt wasting
tree view: HP_0012591
IAO_0000115: A high concentration of one or more electrolytes in the urine in the presence of low serum concentrations of the electrolyte(s).
has db xref: UMLS:C1846347
has exact synonym: Loss of salt in urine
has exact synonym: Renal salt-wasting
has exact synonym: Salt wasting
has exact synonym: Salt-wasting
has OBO namespace: human_phenotype
id: HP:0000127
type: Class
subclass of: HP_0012591
notation: HP:0000127

Renal potassium wasting
tree view: HP_0012598
IAO_0000115: High urine potassium in the presence of hypokalemia.
has db xref: UMLS:C1846348
has exact synonym: Renal K wasting
has OBO namespace: human_phenotype
id: HP:0000128
type: Class
comment: A urine potassium assay can be used to determine the cause of reduced serum potassium (hypokalemia). Normally, the kidney will reabsorb more potassium in the presence of hypokalemia. Therefore, a low urine potassium can suggest gastrointestinal potassium loss, poor dietary intake, or a shift of potassium from the extracellular to the intracellular space. On the other hand, a high urine potassium in the face of low serum potassium indicated renal loss, referred to as renal potassium wasting.
subclass of: HP_0012598
notation: HP:0000128

HP_0000129
IAO_0000231: IAO_0000227
IAO_0100001: HP_0005576
type: Class
deprecated: true
notation: HP:0000129

Abnormality of the uterus
tree view: Abnormality of female internal genitalia
IAO_0000115: An abnormality of the uterus.
has alternative id: HP:0008630
has alternative id: HP:0008692
has db xref: MSH:C562565
has db xref: SNOMEDCT_US:37849005
has db xref: UMLS:C0266383
has exact synonym: Abnormality of the uterus
has exact synonym: Uterine abnormalities
has exact synonym: Uterine malformations
has OBO namespace: human_phenotype
id: HP:0000130
type: Class
subclass of: Abnormality of female internal genitalia
notation: HP:0000130

Uterine leiomyoma
tree view: HP_0010784
IAO_0000115: The presence of a leiomyoma of the uterus.
has alternative id: HP:0008642
has db xref: MSH:D007889
has db xref: NCIT:C3157
has db xref: SNOMEDCT_US:146801000119103
has db xref: SNOMEDCT_US:44598004
has db xref: SNOMEDCT_US:95315005
has db xref: UMLS:C0042133
has exact synonym: Benign uterine leiomyomas
has exact synonym: Uterine fibroid
has OBO namespace: human_phenotype
id: HP:0000131
type: Class
comment: Leiomyoma is a benign neoplasm derived from smooth muscle cells.
subclass of: HP_0010784
notation: HP:0000131

Menorrhagia
tree view: Abnormality of the menstrual cycle
tree view: Abnormal bleeding
IAO_0000115: Prolonged and excessive menses at regular intervals in excess of 80 mL or lasting longer than 7 days.
has alternative id: HP:0100609
has db xref: MSH:D008595
has db xref: SNOMEDCT_US:386692008
has db xref: UMLS:C0025323
has exact synonym: Abnormally heavy bleeding during menstruation
has exact synonym: Hypermenorrhea
has OBO namespace: human_phenotype
id: HP:0000132
type: Class
subclass of: Abnormality of the menstrual cycle
subclass of: Abnormal bleeding
notation: HP:0000132

Gonadal dysgenesis
tree view: Abnormal internal genitalia
has alternative id: HP:0003243
has db xref: MSH:D006059
has db xref: MSH:D006060
has db xref: SNOMEDCT_US:205681004
has db xref: SNOMEDCT_US:38804009
has db xref: SNOMEDCT_US:83579008
has db xref: SNOMEDCT_US:95219002
has db xref: UMLS:C0018051
has db xref: UMLS:C0018055
has db xref: UMLS:C0687149
has exact synonym: Mixed gonadal dysgenesis
has exact synonym: Pure gonadal dysgenesis
has OBO namespace: human_phenotype
id: HP:0000133
type: Class
subclass of: Abnormal internal genitalia
notation: HP:0000133

Female hypogonadism
tree view: Hypogonadism
tree view: HP_0031066
IAO_0000115: Decreased functionality of the female gonads, i.e., of the ovary.
has db xref: SNOMEDCT_US:16041008
has db xref: UMLS:C0271578
has exact synonym: Hypogonadism, female
has OBO namespace: human_phenotype
id: HP:0000134
type: Class
subclass of: Hypogonadism
subclass of: HP_0031066
notation: HP:0000134

Hypogonadism
tree view: Abnormality of reproductive system physiology
tree view: HP_0008373
IAO_0000115: A decreased functionality of the gonad.
has db xref: MSH:D007006
has db xref: SNOMEDCT_US:48130008
has db xref: UMLS:C0020619
has exact synonym: Decreased activity of gonads
has OBO namespace: human_phenotype
id: HP:0000135
type: Class
comment: Reduced functioning of the gonads (ovaries or testes) with reduced production of sex hormones.
subclass of: Abnormality of reproductive system physiology
subclass of: HP_0008373
notation: HP:0000135

Bifid uterus
tree view: HP_0031105
IAO_0000115: The presence of a bifid uterus.
has db xref: UMLS:C1850327
has OBO namespace: human_phenotype
id: HP:0000136
type: Class
comment: A uterus that is divided into two lateral horns as a result of imperfect fusion of the paramesonephric ducts.
subclass of: HP_0031105
notation: HP:0000136

Abnormality of the ovary
tree view: Abnormality of female internal genitalia
IAO_0000115: An abnormality of the ovary.
has db xref: MSH:D010049
has db xref: SNOMEDCT_US:5552004
has db xref: UMLS:C0029928
has db xref: UMLS:C4021818
has exact synonym: Abnormality of the ovaries
has exact synonym: Abnormality of the ovary
has OBO namespace: human_phenotype
has related synonym: Ovarian disease
id: HP:0000137
type: Class
subclass of: Abnormality of female internal genitalia
notation: HP:0000137

Ovarian cyst
tree view: HP_0031065
IAO_0000115: The presence of one or more cysts of the ovary.
has alternative id: HP:0000146
has db xref: MSH:D010048
has db xref: SNOMEDCT_US:79883001
has db xref: UMLS:C0029927
has exact synonym: Cystic abnormalities of the ovaries
has exact synonym: Cystic ovaries
has exact synonym: Ovarian cyst
has exact synonym: Ovarian cystic abnormality
has OBO namespace: human_phenotype
id: HP:0000138
type: Class
subclass of: HP_0031065
notation: HP:0000138

Uterine prolapse
tree view: HP_0031105
tree view: HP_0100823
IAO_0000115: The presence of prolapse of the uterus.
has alternative id: HP:0100824
has db xref: MSH:D014596
has db xref: SNOMEDCT_US:24976005
has db xref: UMLS:C0042140
has exact synonym: Sagging uterus
has OBO namespace: human_phenotype
id: HP:0000139
type: Class
comment: The uterus (womb) is normally held in place by a muscles, tissue and ligaments. If these tissues can no longer support the uterus it can slip down from its normal position.
subclass of: HP_0031105
subclass of: HP_0100823
notation: HP:0000139

Abnormality of the menstrual cycle
tree view: Abnormality of female internal genitalia
tree view: Menstrual irregularities
IAO_0000115: An abnormality of the ovulation cycle.
has db xref: UMLS:C3549779
has db xref: UMLS:C4025888
has exact synonym: Abnormality of the menstrual cycle
has OBO namespace: human_phenotype
has related synonym: Menstrual abnormalities
id: HP:0000140
type: Class
subclass of: Abnormality of female internal genitalia
subclass of: Menstrual irregularities
notation: HP:0000140

Amenorrhea
tree view: Abnormality of the menstrual cycle
IAO_0000115: Absence of menses for an interval of time equivalent to a total of more than (or equal to) 3 previous cycles or 6 months.
has db xref: UMLS:C2219717
has exact synonym: Abnormal absence of menstruation
has OBO namespace: human_phenotype
id: HP:0000141
type: Class
subclass of: Abnormality of the menstrual cycle
notation: HP:0000141

Abnormal vagina morphology
tree view: Abnormality of female internal genitalia
IAO_0000115: Any structural abnormality of the vagina.
has alternative id: HP:0008650
has db xref: UMLS:C1856023
has exact synonym: Vaginal malformation
has OBO namespace: human_phenotype
id: HP:0000142
type: Class
subclass of: Abnormality of female internal genitalia
notation: HP:0000142

Rectovaginal fistula
tree view: Vaginal fistula
tree view: HP_0100590
IAO_0000115: The presence of a fistula between the vagina and the rectum.
has db xref: MEDDRA:10051097
has db xref: MSH:D012006
has db xref: SNOMEDCT_US:65619001
has db xref: UMLS:C0034895
has exact synonym: Abnormal connection between rectum and vagina
has OBO namespace: human_phenotype
id: HP:0000143
in subset: hposlim core
type: Class
subclass of: Vaginal fistula
subclass of: HP_0100590
notation: HP:0000143

Decreased fertility
tree view: Abnormality of reproductive system physiology
has db xref: SNOMEDCT_US:17276009
has db xref: UMLS:C0520927
has exact synonym: Abnormal fertility
has exact synonym: Decreased fertility
has OBO namespace: human_phenotype
id: HP:0000144
type: Class
subclass of: Abnormality of reproductive system physiology
notation: HP:0000144

Transverse vaginal septum
tree view: Septate vagina
has db xref: UMLS:C1856006
has exact synonym: Transverse vaginal membrane
has OBO namespace: human_phenotype
id: HP:0000145
type: Class
subclass of: Septate vagina
notation: HP:0000145

HP_0000146
IAO_0000231: IAO_0000227
IAO_0100001: Ovarian cyst
type: Class
deprecated: true
notation: HP:0000146

Polycystic ovaries
tree view: Ovarian cyst
has alternative id: HP:0008644
has alternative id: HP:0008657
has db xref: MSH:D011085
has db xref: SNOMEDCT_US:69878008
has db xref: UMLS:C0032460
has db xref: UMLS:C1136382
has exact synonym: Polycystic ovary
has exact synonym: Sclerocystic ovaries
has OBO namespace: human_phenotype
has related synonym: Polycystic ovary disease
id: HP:0000147
type: Class
subclass of: Ovarian cyst
notation: HP:0000147

Vaginal atresia
tree view: Abnormal vagina morphology
tree view: Genital tract atresia
IAO_0000115: Congenital occlusion of the vagina or adhesion of the walls of the vagina causing occlusion.
has db xref: SNOMEDCT_US:87380008
has db xref: UMLS:C1321884
has exact synonym: Abnormally closed or absent vagina
has OBO namespace: human_phenotype
id: HP:0000148
type: Class
subclass of: Abnormal vagina morphology
subclass of: Genital tract atresia
notation: HP:0000148

Ovarian gonadoblastoma
tree view: Gonadoblastoma
tree view: HP_0100615
IAO_0000115: The presence of a gonadoblastoma of the ovary.
has db xref: NCIT:C3754
has db xref: SNOMEDCT_US:716594002
has db xref: UMLS:C1518716
has exact synonym: Gonadoblastoma, female
has OBO namespace: human_phenotype
id: HP:0000149
type: Class
comment: Gonadoblastoma is a rare benign tumor that has the potential for malignant transformation and affects a subset of patients with an intersex disorder or disorder of sex development.
subclass of: Gonadoblastoma
subclass of: HP_0100615
notation: HP:0000149

Gonadoblastoma
tree view: Abnormal internal genitalia
tree view: HP_0100728
IAO_0000115: The presence of a gonadoblastoma, a neoplasm of a gonad that consists of aggregates of germ cells and sex cord elements.
has alternative id: HP:0006745
has db xref: MSH:D018238
has db xref: NCIT:C3754
has db xref: SNOMEDCT_US:74751003
has db xref: UMLS:C0206661
has OBO namespace: human_phenotype
id: HP:0000150
type: Class
subclass of: Abnormal internal genitalia
subclass of: HP_0100728
notation: HP:0000150

Aplasia of the uterus
tree view: HP_0008684
IAO_0000115: Aplasia of the uterus.
has db xref: SNOMEDCT_US:248942000
has db xref: UMLS:C0425913
has exact synonym: Absent uterus
has exact synonym: uterus absent
has OBO namespace: human_phenotype
id: HP:0000151
type: Class
subclass of: HP_0008684
notation: HP:0000151

Abnormality of head or neck
tree view: Phenotypic abnormality
IAO_0000115: An abnormality of head and neck.
has db xref: UMLS:C4021817
has exact synonym: Abnormality of head or neck
has exact synonym: Head and neck abnormality
has OBO namespace: human_phenotype
id: HP:0000152
type: Class
subclass of: Phenotypic abnormality
notation: HP:0000152

Abnormality of the mouth
tree view: Abnormality of the face
IAO_0000115: An abnormality of the mouth.
has db xref: MSH:D009056
has db xref: SNOMEDCT_US:128334002
has db xref: UMLS:C0026633
has exact synonym: Abnormal mouth
has exact synonym: Abnormality of the mouth
has OBO namespace: human_phenotype
id: HP:0000153
in subset: hposlim core
type: Class
subclass of: Abnormality of the face
notation: HP:0000153

Wide mouth
tree view: HP_0011337
IAO_0000115: Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective).
has alternative id: HP:0000181
has alternative id: HP:0002052
has db xref: MSH:D008265
has db xref: SNOMEDCT_US:40159009
has db xref: UMLS:C0024433
has exact synonym: Broad mouth
has exact synonym: Large mouth
has exact synonym: Large oral aperture
has exact synonym: Macrostomia
has exact synonym: Wide mouth
has OBO namespace: human_phenotype
id: HP:0000154
in subset: hposlim core
type: Class
comment: The width of the mouth varies with facial movement and must be assessed when the subject has a relaxed (neutral) face. This term replaces macrostomia, large mouth, and large oral aperture because these terms imply a wide and open mouth. The term should not be used to describe a patient with a lateral oral cleft.
subclass of: HP_0011337
notation: HP:0000154

Oral ulcer
tree view: HP_0011830
IAO_0000115: Erosion of the mucous mebrane of the mouth with local excavation of the surface, resulting from the sloughing of inflammatory necrotic tissue.
has broad synonym: Mouth sore
has db xref: MSH:D019226
has db xref: SNOMEDCT_US:26284000
has db xref: UMLS:C0149745
has exact synonym: Mouth ulcer
has OBO namespace: human_phenotype
id: HP:0000155
in subset: hposlim core
type: Class
subclass of: HP_0011830
notation: HP:0000155

HP_0000156
IAO_0000231: IAO_0000227
IAO_0100001: High palate
type: Class
deprecated: true
notation: HP:0000156

Abnormality of the tongue
tree view: Abnormal oral cavity morphology
IAO_0000115: Any abnormality of the tongue.
has db xref: UMLS:C0878638
has exact synonym: Abnormal tongue
has exact synonym: Abnormality of the tongue
has exact synonym: Glossal abnormality
has exact synonym: Lingual abnormality
has exact synonym: Tongue abnormality
has OBO namespace: human_phenotype
id: HP:0000157
in subset: hposlim core
type: Class
subclass of: Abnormal oral cavity morphology
notation: HP:0000157

Macroglossia
tree view: Skeletal muscle hypertrophy
tree view: HP_0030809
IAO_0000115: Increased length and width of the tongue.
has alternative id: HP:0000203
has broad synonym: Glossal hypertrophy
has broad synonym: Lingual hyperplasia
has broad synonym: Lingual hypertrophy
has db xref: MSH:D008260
has db xref: SNOMEDCT_US:25273001
has db xref: UMLS:C0024421
has exact synonym: Abnormally large tongue
has exact synonym: Hyperplasia of the tongue
has exact synonym: Hypertrophy of the tongue
has exact synonym: Increased size of tongue
has exact synonym: Large tongue
has exact synonym: Tongue hypertrophy
has OBO namespace: human_phenotype
id: HP:0000158
in subset: hposlim core
type: Class
comment: Normal standards do not exist. Large size usually leads to protrusion of the tongue. This is an acknowledged bundled term, but due to its frequent usage and relative paucity of situations that would call for separate individual assessments of tongue dimensions, the bundled term is retained. Micrognathia may give the false appearance of a large tongue.
subclass of: Skeletal muscle hypertrophy
subclass of: HP_0030809
notation: HP:0000158

Abnormal lip morphology
tree view: Abnormal oral cavity morphology
IAO_0000115: An abnormality of the lip.
has db xref: UMLS:C2183966
has exact synonym: Abnormal lip
has exact synonym: Abnormality of the lip
has exact synonym: Lip abnormality
has narrow synonym: Anomaly of lip
has narrow synonym: Deformity of lip
has narrow synonym: Malformation of lip
has OBO namespace: human_phenotype
id: HP:0000159
type: Class
subclass of: Abnormal oral cavity morphology
notation: HP:0000159

Narrow mouth
tree view: HP_0011337
IAO_0000115: Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective).
has alternative id: HP:0002261
has alternative id: HP:0009095
has alternative id: HP:0009096
has db xref: MSH:D008865
has db xref: SNOMEDCT_US:14582003
has db xref: UMLS:C0026034
has exact synonym: Microstomia
has exact synonym: Narrow mouth
has exact synonym: Small mouth
has exact synonym: Small oral aperture
has OBO namespace: human_phenotype
id: HP:0000160
in subset: hposlim core
type: Class
comment: The width of the mouth varies with facial movement and must be assessed when the subject has a relaxed (neutral) face. This term replaces microstomia, small oral aperture, and small mouth because the reduced opening of the mouth is secondary to reduced width.
subclass of: HP_0011337
notation: HP:0000160

Median cleft lip
tree view: Cleft upper lip
IAO_0000115: A type of cleft lip presenting as a midline (median) gap in the upper lip.
has db xref: UMLS:C1850256
has exact synonym: Central cleft upper lip
has exact synonym: Midline cleft lip
has OBO namespace: human_phenotype
id: HP:0000161
in subset: hposlim core
type: Class
subclass of: Cleft upper lip
notation: HP:0000161

Glossoptosis
tree view: HP_0030809
IAO_0000115: Posterior displacement of the tongue into the pharynx, i.e., a tongue that is mislocalised posteriorly.
has broad synonym: Posterior displacement of the tongue
has db xref: MSH:D065710
has db xref: SNOMEDCT_US:3639002
has db xref: UMLS:C0267048
has db xref: UMLS:C4280678
has exact synonym: Lingual retraction
has exact synonym: Retraction of the tongue
has OBO namespace: human_phenotype
id: HP:0000162
in subset: hposlim core
type: Class
comment: Presumably, use of the suffix ptosis refers to the situation where the patient is supine, and the displacement is downward. Strictly speaking, the term glossoptosis indicates falling of the tongue and thus can also be forward displacement; however by convention it is only used for backward displacement. Glossoptosis may cause obstruction of the airway.
subclass of: HP_0030809
notation: HP:0000162

Abnormal oral cavity morphology
tree view: HP_0031816
IAO_0000115: Abnormality of the oral cavity, i.e., the opening or hollow part of the mouth.
has db xref: UMLS:C4025887
has exact synonym: Abnormality of the oral cavity
has OBO namespace: human_phenotype
id: HP:0000163
type: Class
subclass of: HP_0031816
notation: HP:0000163

Abnormality of the dentition
tree view: Abnormal oral cavity morphology
IAO_0000115: Any abnormality of the teeth.
has alternative id: HP:0001567
has alternative id: HP:0006296
has alternative id: HP:0006348
has db xref: MSH:D014071
has db xref: SNOMEDCT_US:422775003
has db xref: UMLS:C0040427
has db xref: UMLS:C0262444
has exact synonym: Abnormal dentition
has exact synonym: Abnormal teeth
has exact synonym: Dental abnormalities
has exact synonym: Dental abnormality
has exact synonym: Dental anomalies
has OBO namespace: human_phenotype
has related synonym: Abnormality of the teeth
has related synonym: Dental problem
has related synonym: Dental problems
has related synonym: Tooth abnormalities
id: HP:0000164
in subset: hposlim core
type: Class
comment: Any abnormality of the primary (deciduous) or permanent teeth.
subclass of: Abnormal oral cavity morphology
notation: HP:0000164

HP_0000165
IAO_0000231: IAO_0000227
IAO_0100001: Periodontitis
type: Class
deprecated: true
notation: HP:0000165

Severe periodontitis
tree view: Periodontitis
IAO_0000115: A severe form of periodontitis.
has broad synonym: Severe gum disease
has db xref: UMLS:C4025886
has exact synonym: Severe periodontal disease
has exact synonym: Severe pyorrhea
has OBO namespace: human_phenotype
id: HP:0000166
type: Class
subclass of: Periodontitis
notation: HP:0000166

HP_0000167
IAO_0000231: IAO_0000227
IAO_0100001: Gingival bleeding
type: Class
deprecated: true
notation: HP:0000167

Abnormality of the gingiva
tree view: HP_0011830
IAO_0000115: Any abnormality of the gingiva (also known as gums).
has db xref: UMLS:C4021816
has exact synonym: Abnormality of the gums
has exact synonym: Gingival abnormality
has OBO namespace: human_phenotype
id: HP:0000168
in subset: hposlim core
type: Class
comment: The gingiva consists of the mucosal tissue that lies over the alveolar bone and around the base of the teeth.
subclass of: HP_0011830
notation: HP:0000168

Gingival fibromatosis
tree view: Abnormality of the gingiva
tree view: HP_0010614
IAO_0000115: The presence of fibrosis of the gingiva.
has db xref: MSH:C562884
has db xref: MSH:D005351
has db xref: NCIT:C3041
has db xref: SNOMEDCT_US:109620006
has db xref: SNOMEDCT_US:58569000
has db xref: UMLS:C0016049
has db xref: UMLS:C0399440
has db xref: UMLS:C4280677
has exact synonym: Gingival fibroma
has exact synonym: Gingival fibrous nodules
has narrow synonym: Hereditary gingival fibromatosis
has narrow synonym: Idiopathic gingival hyperplasia
has OBO namespace: human_phenotype
id: HP:0000169
in subset: hposlim core
type: Class
comment: Gingival fibromatosis is characterized by a slowly progressive benign enlargement of the oral gingival tissues. Both genetic and pharmacologically induced forms of gingival fibromatosis are known. The most common genetic form, hereditary gingival fibromatosis (HGF), is usually transmitted as an autosomal dominant trait, although sporadic cases are common and autosomal recessive inheritance has been reported.
subclass of: Abnormality of the gingiva
subclass of: HP_0010614
notation: HP:0000169

HP_0000170
IAO_0000231: IAO_0000227
IAO_0100001: Thick lower lip vermilion
type: Class
deprecated: true
notation: HP:0000170

Microglossia
tree view: HP_0010295
IAO_0000115: Decreased length and width of the tongue.
has alternative id: HP:0000226
has alternative id: HP:0009079
has db xref: MSH:D014060
has db xref: SNOMEDCT_US:249380003
has db xref: SNOMEDCT_US:32614006
has db xref: UMLS:C0025988
has db xref: UMLS:C0426492
has exact synonym: Abnormally small tongue
has exact synonym: Decreased size of tongue
has exact synonym: Hypoglossia
has exact synonym: Hypoplasia of the tongue
has exact synonym: Hypoplastic tongue
has exact synonym: Lingual hypoplasia
has exact synonym: Rudimentary tongue
has exact synonym: Small tongue
has exact synonym: Underdevelopment of the tongue
has OBO namespace: human_phenotype
id: HP:0000171
in subset: hposlim core
type: Class
comment: Normal standards do not exist. The term aglossia is often used for extremely small tongue, but a nubbin of tongue tissue is almost always present and aglossia in sensu strictu is extremely rare. This is an acknowledged bundled term, but due to its frequent usage and relative paucity of situations that would call for separate individual assessments of tongue dimensions, the bundled term is retained.
subclass of: HP_0010295
notation: HP:0000171

Abnormality of the uvula
tree view: HP_0100736
IAO_0000115: Abnormality of the uvula, the conic projection from the posterior edge of the middle of the soft palate.
has db xref: UMLS:C4025885
has exact synonym: Abnormality of palatine uvula
has exact synonym: Abnormality of the uvula
has OBO namespace: human_phenotype
id: HP:0000172
in subset: hposlim core
type: Class
subclass of: HP_0100736
notation: HP:0000172

HP_0000173
IAO_0000231: IAO_0000227
IAO_0100001: Bifid uvula
type: Class
deprecated: true
notation: HP:0000173

Abnormal palate morphology
tree view: Abnormal oral cavity morphology
IAO_0000115: Any abnormality of the palate, i.e., of roof of the mouth.
has db xref: UMLS:C4021815
has exact synonym: Abnormality of the palate
has exact synonym: Abnormality of the roof of the mouth
has exact synonym: Palatal anomaly
has exact synonym: Palate abnormality
has OBO namespace: human_phenotype
id: HP:0000174
in subset: hposlim core
type: Class
subclass of: Abnormal oral cavity morphology
notation: HP:0000174

Cleft palate
tree view: Oral cleft
tree view: HP_0100737
IAO_0000115: Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
has alternative id: HP:0410004
has broad synonym: Cleft secondary palate
has db xref: Fyler:4876
has db xref: MSH:D002972
has db xref: SNOMEDCT_US:63567004
has db xref: SNOMEDCT_US:87979003
has db xref: UMLS:C0008925
has db xref: UMLS:C2981150
has exact synonym: Cleft hard and soft palate
has exact synonym: Cleft of hard and soft palate
has exact synonym: Cleft of palate
has exact synonym: Cleft palate
has exact synonym: Cleft roof of mouth
has exact synonym: Palatoschisis
has exact synonym: Uranostaphyloschisis
has OBO namespace: human_phenotype
id: HP:0000175
in subset: hposlim core
type: Class
comment: Cleft palate is a developmental defect that occurs between the 7th and 12th week of pregnancy. Normally, the palatine processes fuse during this time to form the soft and hard palate. A failure of fusion results in a cleft palate. The clinical spectrum ranges from bifid uvula, to (incomplete or complete) cleft of the soft palate, up to (complete or incomplete) cleft of both the soft and hard palate.
subclass of: Oral cleft
subclass of: HP_0100737
notation: HP:0000175

Submucous cleft hard palate
tree view: HP_0410031
IAO_0000115: Hard-palate submucous clefts are characterized by bony defects in the midline of the bony palate that are covered by the mucous membrane of the roof of the mouth. It may be possible to detect a submucous cleft hard palate upon palpation as a notch in the bony palate.
has alternative id: HP:0000208
has alternative id: HP:0002746
has alternative id: HP:0009091
has db xref: SNOMEDCT_US:43437003
has db xref: UMLS:C0432103
has db xref: UMLS:C4020894
has exact synonym: Partial thickness cleft hard palate
has exact synonym: Submucosal cleft palate
has OBO namespace: human_phenotype
has related synonym: Submucous clefting
id: HP:0000176
type: Class
subclass of: HP_0410031
notation: HP:0000176

Abnormality of upper lip
tree view: Abnormal lip morphology
IAO_0000115: An abnormality of the upper lip.
has db xref: UMLS:C4025884
has exact synonym: Abnormality of upper lip
has narrow synonym: Anomaly of the upper lip
has narrow synonym: Deformity of the upper lip
has narrow synonym: Malformation of the upper lip
has OBO namespace: human_phenotype
id: HP:0000177
in subset: hposlim core
type: Class
subclass of: Abnormal lip morphology
notation: HP:0000177

Abnormality of lower lip
tree view: Abnormal lip morphology
IAO_0000115: An abnormality of the lower lip.
has db xref: UMLS:C4025883
has exact synonym: Abnormality of lower lip
has narrow synonym: Anomaly of the lower lip
has narrow synonym: Deformity of the lower lip
has narrow synonym: Malformation of the lower lip
has OBO namespace: human_phenotype
id: HP:0000178
in subset: hposlim core
type: Class
subclass of: Abnormal lip morphology
notation: HP:0000178

Thick lower lip vermilion
tree view: Abnormality of lower lip
tree view: HP_0012471
IAO_0000115: Increased thickness of the lower lip, leading to a prominent appearance of the lower lip. The height of the vermilion of the lower lip in the midline is more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the lower lip in the frontal view (subjective).
has alternative id: HP:0000170
has db xref: UMLS:C1839739
has db xref: UMLS:C2053437
has exact synonym: Full lower lip vermilion
has exact synonym: Increased height of lower lip vermilion
has exact synonym: Increased volume of lower lip
has exact synonym: Increased volume of lower lip vermilion
has exact synonym: Plump lower lip
has exact synonym: Prominent lower lip
has exact synonym: Thick vermilion border of lower lip
has narrow synonym: Prominent lower lip vermilion
has narrow synonym: Thick red part of the lower lip
has OBO namespace: human_phenotype
has related synonym: Full lower lip
has related synonym: Thick lower lip
id: HP:0000179
type: Class
comment: Normal values for the height of the vermilion are available [Farkas, 1981] but measurements are not commonly used. Most clinicians determine this feature subjectively. The lower lip is typically thicker than the upper one. The height of the vermilion of the lower lip varies among ethnic groups, and the vermilion should be compared to a population of same ethnic background. When the vermilion is thick, it is more convex and more everted than usual on profile view, but that should be assessed separately.
subclass of: Abnormality of lower lip
subclass of: HP_0012471
notation: HP:0000179

Lobulated tongue
tree view: HP_0030809
IAO_0000115: Multiple indentations and/or elevations on the edge and/or surface of the tongue producing an irregular surface contour.
has db xref: SNOMEDCT_US:253752000
has db xref: UMLS:C0431564
has exact synonym: Bumpy tongue
has exact synonym: Lingual lobules
has exact synonym: Lobulate tongue
has OBO namespace: human_phenotype
id: HP:0000180
in subset: hposlim core
type: Class
comment: Lobulated tongue can bilobed, trilobed, or show multiple lobes.
subclass of: HP_0030809
notation: HP:0000180

HP_0000181
IAO_0000231: IAO_0000227
IAO_0100001: Wide mouth
type: Class
deprecated: true
notation: HP:0000181

Movement abnormality of the tongue
tree view: HP_0030810
has db xref: UMLS:C4025882
has exact synonym: Abnormality of lingual movement
has exact synonym: Movement abnormality of the tongue
has OBO namespace: human_phenotype
id: HP:0000182
type: Class
subclass of: HP_0030810
notation: HP:0000182

Difficulty in tongue movements
tree view: Movement abnormality of the tongue
has db xref: UMLS:C1853406
has db xref: UMLS:C4280676
has exact synonym: Difficulty in lingual movements
has exact synonym: Difficulty in tongue movements
has narrow synonym: Hypokinesia of the tongue
has narrow synonym: Lingual hypokinesia
has OBO namespace: human_phenotype
id: HP:0000183
type: Class
subclass of: Movement abnormality of the tongue
notation: HP:0000183

HP_0000184
IAO_0000231: IAO_0000227
IAO_0100001: Everted lower lip vermilion
type: Class
deprecated: true
notation: HP:0000184

Cleft soft palate
tree view: Cleft palate
tree view: HP_0100736
IAO_0000115: Cleft of the soft palate (also known as the velum, or muscular palate) as a result of a developmental defect occurring between the 7th and 12th week of pregnancy. Cleft soft palate can cause functional abnormalities of the Eustachian tube with resulting middle ear anomalies and hearing difficulties, as well as speech problems associated with hypernasal speech due to velopharyngeal insufficiency.
has db xref: MSH:C562950
has db xref: SNOMEDCT_US:253997002
has db xref: UMLS:C0432098
has exact synonym: Cleft muscular palate
has exact synonym: Cleft of soft palate
has exact synonym: Cleft velum
has OBO namespace: human_phenotype
id: HP:0000185
type: Class
subclass of: Cleft palate
subclass of: HP_0100736
notation: HP:0000185

HP_0000186
IAO_0000231: IAO_0000227
IAO_0100001: HP_0010806
type: Class
deprecated: true
notation: HP:0000186

Broad alveolar ridges
tree view: HP_0006477
has db xref: UMLS:C1857500
has db xref: UMLS:C4280675
has exact synonym: Broad alveolar margins
has exact synonym: Widened alveolar ridges
has OBO namespace: human_phenotype
has related synonym: Broad alveolar processes of jaw
has related synonym: Wide alveolar margins
has related synonym: Wide alveolar processes of jaw
has related synonym: Wide gum ridges
id: HP:0000187
type: Class
subclass of: HP_0006477
notation: HP:0000187

Short upper lip
tree view: Abnormality of upper lip
IAO_0000115: Decreased width of the upper lip.
has alternative id: HP:0200087
has db xref: UMLS:C1848977
has exact synonym: Decreased height of upper lip
has exact synonym: Decreased upper labial height
has exact synonym: Decreased upper labial length
has exact synonym: Decreased vertical length of upper lip
has exact synonym: Short upper lip
has exact synonym: Shortening of upper lip
has exact synonym: Vertical deficiency of upper lip
has OBO namespace: human_phenotype
id: HP:0000188
type: Class
subclass of: Abnormality of upper lip
notation: HP:0000188

Narrow palate
tree view: Abnormal palate morphology
IAO_0000115: Width of the palate more than 2 SD below the mean (objective) or apparently decreased palatal width (subjective).
has db xref: UMLS:C1398312
has exact synonym: Decreased palatal width
has exact synonym: Decreased transverse dimension of palate
has exact synonym: Narrow palate
has exact synonym: Narrow roof of mouth
has OBO namespace: human_phenotype
id: HP:0000189
in subset: hposlim core
type: Class
comment: Palatal width is measured as the distance between the maxillary first permanent molar on the right and left sides, at the lingual cervical line, using a specific device. Palate width is typically assessed subjectively in routine clinical practice. Narrowing is often associated with a High palate, but this should be assessed and coded separately. Gingival overgrowth can give the impression of a narrow palate but should be distinguished and coded separately. The term gothic palate is used to indicate that the roof of the palate is not round but rather has an inverted V-shape, and therefore, only the upper part of the palate is narrow.
subclass of: Abnormal palate morphology
notation: HP:0000189

Abnormal oral frenulum morphology
tree view: Abnormal oral cavity morphology
IAO_0000115: An abnormality of the lingual frenulum, that is of the small fold of mucous membrane that attaches the tongue to the floor of the mouth, or the presence of accessory frenula in the oral cavity.
has db xref: UMLS:C4025881
has exact synonym: Abnormality of frenum of tongue
has exact synonym: Abnormality of lingual frenum
has exact synonym: Abnormality of oral frenula
has exact synonym: Abnormality of oral frenum
has OBO namespace: human_phenotype
id: HP:0000190
type: Class
comment: A frenulum is a small frenum. There are several frena that are usually present in a normal oral cavity, most notably the maxillary labial frenum, the mandibular labial frenum, and the lingual frenum.
subclass of: Abnormal oral cavity morphology
notation: HP:0000190

Accessory oral frenulum
tree view: Abnormal oral frenulum morphology
IAO_0000115: Extra fold of tissue extending from the alveolar ridge to the inner surface of the upper or lower lip.
has db xref: UMLS:C4021814
has exact synonym: Accessory oral frenum
has exact synonym: Extra oral frenulum
has exact synonym: Extra oral frenum
has exact synonym: Multiple oral frenula
has exact synonym: Supernumerary oral frenulum
has exact synonym: Supernumerary oral frenum
has OBO namespace: human_phenotype
id: HP:0000191
in subset: hposlim core
type: Class
comment: This finding is assessed by gently retracting the oral mucosa from the alveolar ridge. Typically there is a single maxillary and a single mandibular frenulum located in the midline between the two central incisors. Abnormalities of the alveolar ridges may accompany accessory frenula, but these should be assessed separately.
subclass of: Abnormal oral frenulum morphology
notation: HP:0000191

HP_0000192
IAO_0000231: IAO_0000227
IAO_0100001: Downturned corners of mouth
type: Class
deprecated: true
notation: HP:0000192

Bifid uvula
tree view: Abnormality of the uvula
IAO_0000115: Uvula separated into two parts most easily seen at the tip.
has alternative id: HP:0000173
has db xref: SNOMEDCT_US:18910001
has db xref: UMLS:C0266122
has exact synonym: Bifid palatine uvula
has exact synonym: Cleft uvula
has exact synonym: Forked uvula
has exact synonym: Split uvula
has exact synonym: Uvula bifida
has OBO namespace: human_phenotype
id: HP:0000193
in subset: hposlim core
type: Class
subclass of: Abnormality of the uvula
notation: HP:0000193

Open mouth
tree view: HP_0011338
IAO_0000115: A facial appearance characterized by a permanently or nearly permanently opened mouth.
has db xref: SNOMEDCT_US:262016004
has db xref: UMLS:C0240379
has exact synonym: Gaped jawed appearance
has exact synonym: Gaped mouthed appearance
has exact synonym: Open mouth
has exact synonym: Slack jawed appearance
has OBO namespace: human_phenotype
has related synonym: Open mouth appearance
id: HP:0000194
type: Class
subclass of: HP_0011338
notation: HP:0000194

HP_0000195
IAO_0000231: IAO_0000227
IAO_0100001: Gingival overgrowth
type: Class
deprecated: true
notation: HP:0000195

Lower lip pit
tree view: Abnormality of lower lip
tree view: HP_0100269
IAO_0000115: Depression located on the vermilion of the lower lip, usually paramedian.
has db xref: UMLS:C1861544
has OBO namespace: human_phenotype
id: HP:0000196
type: Class
comment: A lip pit may be connected by a fistula to mucous minor salivary glands in the lower lip. In addition, a lip pit may on occasion be seen with a surrounding tissue elevation (mound). Pits located at the labial commisure (cheilon) are distinct from lip pits (see Commissural pit).
subclass of: Abnormality of lower lip
subclass of: HP_0100269
notation: HP:0000196

Abnormal parotid gland morphology
tree view: HP_0010286
IAO_0000115: Any abnormality of the parotid glands, which are the salivary glands that are located in the subcutaneous tissues of the face overlying the mandibular ramus and anterior and inferior to the external ear.
has db xref: UMLS:C4025880
has exact synonym: Abnormality of parotid gland
has exact synonym: Anomaly of the parotid gland
has OBO namespace: human_phenotype
id: HP:0000197
type: Class
subclass of: HP_0010286
notation: HP:0000197

Absence of Stensen duct
tree view: Abnormal parotid gland morphology
has db xref: UMLS:C1858569
has db xref: UMLS:C4280674
has exact synonym: Absence of parotid duct
has exact synonym: Absent stensen duct
has exact synonym: Failure of development of parotid duct
has exact synonym: Failure of development of stensen duct
has exact synonym: Missing parotid duct
has exact synonym: Missing stensen duct
has narrow synonym: Agenesis of parotid duct
has narrow synonym: Agenesis of stensen duct
has OBO namespace: human_phenotype
id: HP:0000198
type: Class
subclass of: Abnormal parotid gland morphology
notation: HP:0000198

Tongue nodules
tree view: HP_0030809
has db xref: UMLS:C0241438
has exact synonym: Lingual nodules
has OBO namespace: human_phenotype
id: HP:0000199
type: Class
subclass of: HP_0030809
notation: HP:0000199

Short lingual frenulum
tree view: Abnormal oral frenulum morphology
IAO_0000115: The presence of an abnormally short lingual frenulum.
has broad synonym: Hypoplasia of lingual frenulum
has broad synonym: Hypoplasia of lingual frenum
has broad synonym: Hypoplasia of tongue frenulum
has broad synonym: Hypoplasia of tongue frenum
has db xref: SNOMEDCT_US:249388005
has db xref: UMLS:C0426501
has db xref: UMLS:C4280673
has exact synonym: Deficiency of lingual frenulum
has exact synonym: Short lingual frenum
has exact synonym: Short tongue frenulum
has exact synonym: Short tongue frenum
has exact synonym: Tight lingual frenulum
has OBO namespace: human_phenotype
id: HP:0000200
type: Class
subclass of: Abnormal oral frenulum morphology
notation: HP:0000200

Pierre-Robin sequence
tree view: HP_0031816
IAO_0000115: Pierre Robin malformation is a sequence of developmental malformations characterized by micrognathia (mandibular hypoplasia), glossoptosis and cleft palate.
has db xref: MSH:D010855
has db xref: SNOMEDCT_US:4602007
has db xref: UMLS:C0031900
has exact synonym: Pierre Robin sequence
has exact synonym: Pierre-robin anomaly
has exact synonym: Pierre-robin deformity
has exact synonym: Pierre-robin malformation
has exact synonym: Robin sequence
has OBO namespace: human_phenotype
id: HP:0000201
type: Class
subclass of: HP_0031816
notation: HP:0000201

Oral cleft
tree view: Abnormal oral cavity morphology
IAO_0000115: The presence of a cleft in the oral cavity, the two main types of which are cleft lip and cleft palate. In cleft lip, there is the congenital failure of the maxillary and median nasal processes to fuse, forming a groove or fissure in the lip. In cleft palate, there is a congenital failure of the palate to fuse properly, forming a grooved depression or fissure in the roof of the mouth. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately.
has db xref: SNOMEDCT_US:253983005
has db xref: SNOMEDCT_US:66948001
has db xref: UMLS:C0158646
has db xref: UMLS:C4021813
has exact synonym: Cleft of the mouth
has exact synonym: Oral clefting
has narrow synonym: Cleft lip, cleft palate
has OBO namespace: human_phenotype
has related synonym: Cleft lip/palate
id: HP:0000202
type: Class
subclass of: Abnormal oral cavity morphology
notation: HP:0000202

HP_0000203
IAO_0000231: IAO_0000227
IAO_0100001: Macroglossia
type: Class
deprecated: true
notation: HP:0000203

Cleft upper lip
tree view: Abnormality of upper lip
tree view: HP_0410030
IAO_0000115: A gap in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development.
has db xref: Fyler:4875
has db xref: MSH:D002971
has db xref: SNOMEDCT_US:80281008
has db xref: UMLS:C0008924
has exact synonym: Cheiloschisis of upper lip
has exact synonym: Cleft upper lip
has exact synonym: Harelip
has OBO namespace: human_phenotype
has related synonym: Cleft of upper lip
id: HP:0000204
type: Class
subclass of: Abnormality of upper lip
subclass of: HP_0410030
notation: HP:0000204

Pursed lips
tree view: HP_0011338
IAO_0000115: An abnormality of the appearance of the face caused by constant contraction of the lips leading to a puckered or pursed appearance.
has db xref: UMLS:C1832130
has exact synonym: Pursed lips
has exact synonym: Tightly closed lips
has OBO namespace: human_phenotype
id: HP:0000205
type: Class
subclass of: HP_0011338
notation: HP:0000205

Glossitis
tree view: HP_0030809
IAO_0000115: Inflammation of the tongue.
has db xref: MSH:D005928
has db xref: SNOMEDCT_US:45534005
has db xref: UMLS:C0017675
has exact synonym: Inflammation of the tongue
has exact synonym: Lingual inflammation
has exact synonym: Smooth swollen tongue
has OBO namespace: human_phenotype
id: HP:0000206
in subset: hposlim core
type: Class
subclass of: HP_0030809
notation: HP:0000206

Triangular mouth
tree view: HP_0011338
IAO_0000115: The presence of a triangular form of the mouth.
has db xref: UMLS:C1849341
has exact synonym: Triangular mouth
has exact synonym: Triangular shaped mouth
has exact synonym: Triangular shaped oral aperture
has OBO namespace: human_phenotype
id: HP:0000207
type: Class
subclass of: HP_0011338
notation: HP:0000207

HP_0000208
IAO_0000231: IAO_0000227
IAO_0100001: Submucous cleft hard palate
type: Class
deprecated: true
notation: HP:0000208

HP_0000209
IAO_0000231: IAO_0000227
IAO_0100001: Abnormality of the mandible
type: Class
deprecated: true
notation: HP:0000209

HP_0000210
IAO_0000231: IAO_0000227
IAO_0100001: Micrognathia
type: Class
deprecated: true
notation: HP:0000210

Trismus
tree view: Abnormality of the mandible
IAO_0000115: Limitation in the ability to open the mouth.
has broad synonym: Decrease in jaw mobility
has broad synonym: Decrease in jaw movement
has broad synonym: Decrease in jaw opening
has broad synonym: Decrease in mandibular mobility
has broad synonym: Decrease in mandibular movement
has broad synonym: Decrease in mandibular opening
has broad synonym: Limited jaw mobility
has broad synonym: Limited jaw movement
has broad synonym: Limited jaw opening
has broad synonym: Limited mandibular mobility
has broad synonym: Limited mandibular opening
has broad synonym: Limited mouth opening
has db xref: MSH:D014313
has db xref: SNOMEDCT_US:87866006
has db xref: UMLS:C0041105
has db xref: UMLS:C1848474
has db xref: UMLS:C4228933
has db xref: UMLS:C4280672
has exact synonym: Lockjaw
has exact synonym: Pain of muscles of mastication
has OBO namespace: human_phenotype
id: HP:0000211
type: Class
subclass of: Abnormality of the mandible
notation: HP:0000211

Gingival overgrowth
tree view: Abnormality of the gingiva
IAO_0000115: Hyperplasia of the gingiva (that is, a thickening of the soft tissue overlying the alveolar ridge. The degree of thickening ranges from involvement of the interdental papillae alone to gingival overgrowth covering the entire tooth crown.
has alternative id: HP:0000195
has db xref: MSH:D005885
has db xref: MSH:D005886
has db xref: MSH:D019214
has db xref: SNOMEDCT_US:441787004
has db xref: SNOMEDCT_US:441798003
has db xref: SNOMEDCT_US:54711002
has db xref: UMLS:C0017566
has db xref: UMLS:C0017567
has db xref: UMLS:C0376480
has exact synonym: Gingival enlargement
has exact synonym: Gingival hyperplasia
has exact synonym: Gum enlargement
has exact synonym: Gum hypertrophy
has exact synonym: Hypertrophic gingivitis
has OBO namespace: human_phenotype
has related synonym: Oral soft tissue hyperplasia
id: HP:0000212
in subset: hposlim core
type: Class
comment: This finding is to be distinguished from overgrowth of the alveolar ridge.
subclass of: Abnormality of the gingiva
notation: HP:0000212

HP_0000213
IAO_0000231: IAO_0000227
IAO_0100001: Thin vermilion border
type: Class
deprecated: true
notation: HP:0000213

Lip telangiectasia
tree view: Abnormal lip morphology
tree view: Oral cavity telangiectasia
IAO_0000115: Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the lips.
has db xref: UMLS:C1857697
has db xref: UMLS:C4280670
has db xref: UMLS:C4280671
has exact synonym: Labial telangiectasia
has exact synonym: Lip telangiectases
has exact synonym: Telangiectasia of the lips
has OBO namespace: human_phenotype
has related synonym: Angioectasias of the lip
has related synonym: Labial angioectasias
has related synonym: Spider veins of the lip
id: HP:0000214
type: Class
subclass of: Abnormal lip morphology
subclass of: Oral cavity telangiectasia
notation: HP:0000214

Thick upper lip vermilion
tree view: HP_0011339
tree view: HP_0012471
IAO_0000115: Height of the vermilion of the upper lip in the midline more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the upper lip in the frontal view (subjective).
has alternative id: HP:0000231
has db xref: UMLS:C1846423
has exact synonym: Full upper lip
has exact synonym: Full upper lip vermilion
has exact synonym: Increased height of upper lip vermilion
has exact synonym: Increased volume of upper lip
has exact synonym: Increased volume of upper lip vermilion
has exact synonym: Plump upper lip
has exact synonym: Prominent upper lip
has exact synonym: Thick upper lip
has exact synonym: Thick vermilion border of upper lip
has narrow synonym: Prominent upper lip vermilion
has narrow synonym: Thick red part of the upper lip
has OBO namespace: human_phenotype
id: HP:0000215
in subset: hposlim core
type: Class
comment: Normal values for the height of the vermilion are available [Farkas, 1981], but measurements are not commonly used. Most clinicians determine this feature subjectively or utilize the Likert scale of Astley and Clarren [2000] (Fig. 17). The vermilion of the upper lip varies considerably among ethnic groups, and the vermilion should be compared to a population of same ethnic background. The thickness of the upper lip vermilion is sensitive to the facial expression. On profile view, a thick vermilion is more convex than usual.
subclass of: HP_0011339
subclass of: HP_0012471
notation: HP:0000215

Broad secondary alveolar ridge
tree view: Broad alveolar ridges
has db xref: UMLS:C1839276
has exact synonym: Secondary alveolar ridges
has OBO namespace: human_phenotype
id: HP:0000216
type: Class
subclass of: Broad alveolar ridges
notation: HP:0000216

Xerostomia
tree view: HP_0100755
IAO_0000115: Dryness of the mouth due to salivary gland dysfunction.
has alternative id: HP:0002709
has alternative id: HP:0100756
has broad synonym: Decreased salivary flow
has db xref: MSH:D014987
has db xref: SNOMEDCT_US:300268000
has db xref: SNOMEDCT_US:56893005
has db xref: SNOMEDCT_US:87715008
has db xref: UMLS:C0043352
has exact synonym: Dry mouth
has exact synonym: Dry mouth syndrome
has exact synonym: Reduced salivation
has OBO namespace: human_phenotype
id: HP:0000217
in subset: hposlim core
type: Class
subclass of: HP_0100755
notation: HP:0000217

High palate
tree view: Abnormal palate morphology
IAO_0000115: Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).
has alternative id: HP:0000156
has alternative id: HP:0009080
has alternative id: HP:0009082
has alternative id: HP:0009097
has db xref: SNOMEDCT_US:27272007
has db xref: UMLS:C0240635
has exact synonym: Elevated palate
has exact synonym: High palate
has exact synonym: High, arched palate
has exact synonym: High-arched palate
has exact synonym: Increased palatal height
has OBO namespace: human_phenotype
id: HP:0000218
type: Class
comment: The measuring device for this assessment is described in (Hall JG, Froster-Iskenius UG, Allanson JE, Gripp K, Slavotinek A. 2006. Handbook of Normal Physical Measurements. 2nd edition. Oxford Medical, publishers). A high palate is often associated with a narrow palate. However, a narrow palate can easily give a false appearance of a high palate. Height and width of the palate should be assessed and coded separately. We do not recommend the subjective determination because this term can be overused and applied inaccurately.
subclass of: Abnormal palate morphology
notation: HP:0000218

Thin upper lip vermilion
tree view: Thin vermilion border
tree view: HP_0011339
IAO_0000115: Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective).
has alternative id: HP:0200062
has alternative id: HP:0200086
has db xref: UMLS:C1865017
has exact synonym: Decreased height of upper lip vermilion
has exact synonym: Decreased volume of upper lip
has exact synonym: Decreased volume of upper lip vermilion
has exact synonym: Thin upper lip
has exact synonym: Thin vermilion border of upper lip
has narrow synonym: Thin red part of the upper lip
has OBO namespace: human_phenotype
has related synonym: Thin upper lips
id: HP:0000219
in subset: hposlim core
type: Class
comment: Normal values for the height of the vermilion are available [Farkas, 1981], but measurements are not commonly used. Most clinicians determine this feature subjectively or use the Likert scale for Caucasians and African Americans [Astley and Clarren, 2000]. The height of the vermilion of the upper lip varies among ethnic groups, and the vermilion should be compared to a population of same ethnic background. The thinness of the upper lip vermilion is sensitive to facial expression. On profile view, a thin vermilion is less convex than usual. A thin upper lip vermilion may be associated with a smooth philtrum and an absence of the Cupid's bow, but these should be assessed separately.
subclass of: Thin vermilion border
subclass of: HP_0011339
notation: HP:0000219

Velopharyngeal insufficiency
tree view: HP_0100736
IAO_0000115: Inability of velopharyngeal sphincter to sufficiently separate the nasal cavity from the oral cavity during speech.
has broad synonym: Velopharyngeal dysfunction
has db xref: MSH:D014681
has db xref: SNOMEDCT_US:229727006
has db xref: SNOMEDCT_US:232416001
has db xref: SNOMEDCT_US:278714002
has db xref: UMLS:C0042454
has db xref: UMLS:C4280669
has exact synonym: Velopharyngeal incompetence
has OBO namespace: human_phenotype
id: HP:0000220
type: Class
subclass of: HP_0100736
notation: HP:0000220

Furrowed tongue
tree view: HP_0030809
IAO_0000115: Accentuation of the grooves on the dorsal surface of the tongue.
has db xref: MSH:D014063
has db xref: SNOMEDCT_US:52368004
has db xref: UMLS:C0040412
has exact synonym: Fissured tongue
has exact synonym: Grooved tongue
has exact synonym: Lingual furrow
has exact synonym: Lingue plicata
has exact synonym: Plicated tongue
has exact synonym: Prominent tongue grooves
has exact synonym: Scrotal tongue
has OBO namespace: human_phenotype
id: HP:0000221
in subset: hposlim core
type: Class
comment: Usually there is a midline groove of the tongue with smaller radiating grooves. The deep furrows may extend to the lateral borders. They may follow a regular geometric pattern or be irregular. A furrowed tongue occurs in 10-25% of individuals but is rare in children.
subclass of: HP_0030809
notation: HP:0000221

Gingival hyperkeratosis
tree view: Abnormality of the gingiva
tree view: Hyperkeratosis
IAO_0000115: Hyperkeratosis of the gingiva.
has alternative id: HP:0007539
has db xref: UMLS:C1857013
has exact synonym: Hyperkeratosis, gingival
has OBO namespace: human_phenotype
id: HP:0000222
type: Class
comment: The condition results in the teeth being partially or totally engulfed by keratinized gingiva, causing aesthetic and functional problems.
subclass of: Abnormality of the gingiva
subclass of: Hyperkeratosis
notation: HP:0000222

Abnormality of taste sensation
tree view: HP_0012638
tree view: HP_0030810
has db xref: UMLS:C4025879
has exact synonym: Abnormality of taste sensation
has OBO namespace: human_phenotype
id: HP:0000223
type: Class
subclass of: HP_0012638
subclass of: HP_0030810
notation: HP:0000223

Decreased taste sensation
tree view: Abnormality of taste sensation
has db xref: MSH:D000370
has db xref: SNOMEDCT_US:697990000
has db xref: UMLS:C0151934
has exact synonym: Decreased taste
has exact synonym: Decreased taste sensation
has exact synonym: Lost taste
has OBO namespace: human_phenotype
id: HP:0000224
type: Class
subclass of: Abnormality of taste sensation
notation: HP:0000224

Gingival bleeding
tree view: Abnormality of the gingiva
tree view: Abnormal bleeding
IAO_0000115: Hemorrhage affecting the gingiva.
has alternative id: HP:0000167
has db xref: MSH:D005884
has db xref: SNOMEDCT_US:86276007
has db xref: UMLS:C0017565
has exact synonym: Bleeding gums
has exact synonym: Gingival hemorrhage
has exact synonym: Gingivorrhagia
has OBO namespace: human_phenotype
id: HP:0000225
type: Class
subclass of: Abnormality of the gingiva
subclass of: Abnormal bleeding
notation: HP:0000225

HP_0000226
IAO_0000231: IAO_0000227
IAO_0100001: Microglossia
type: Class
deprecated: true
notation: HP:0000226

Tongue telangiectasia
tree view: Oral cavity telangiectasia
tree view: HP_0030809
IAO_0000115: Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the tongue.
has db xref: UMLS:C4025878
has db xref: UMLS:C4280668
has exact synonym: Lingual telangiectasia
has OBO namespace: human_phenotype
has related synonym: Angioectasias of the tongue
has related synonym: Lingual angioectasias
has related synonym: Spider veins of the tongue
id: HP:0000227
type: Class
subclass of: Oral cavity telangiectasia
subclass of: HP_0030809
notation: HP:0000227

Oral cavity telangiectasia
tree view: HP_0011830
tree view: HP_0100579
IAO_0000115: Presence of telangiectases in the oral cavity.
has db xref: UMLS:C4025877
has db xref: UMLS:C4280667
has exact synonym: Oral cavity teleangiectasia
has OBO namespace: human_phenotype
has related synonym: Angioectasias of the mouth
has related synonym: Angioectasias of the oral cavity
has related synonym: Spider veins of the mouth
has related synonym: Spider veins of the oral cavity
id: HP:0000228
type: Class
subclass of: HP_0011830
subclass of: HP_0100579
notation: HP:0000228

HP_0000229
IAO_0000231: IAO_0000227
IAO_0100001: Palate telangiectasia
type: Class
deprecated: true
notation: HP:0000229

Gingivitis
tree view: Abnormality of the gingiva
IAO_0000115: Inflammation of the gingiva.
has db xref: MSH:D005891
has db xref: SNOMEDCT_US:66383009
has db xref: UMLS:C0017574
has exact synonym: Gingival inflammation
has exact synonym: Inflamed gums
has exact synonym: Red and swollen gums
has OBO namespace: human_phenotype
id: HP:0000230
in subset: hposlim core
type: Class
subclass of: Abnormality of the gingiva
notation: HP:0000230

HP_0000231
IAO_0000231: IAO_0000227
IAO_0100001: Thick upper lip vermilion
type: Class
deprecated: true
notation: HP:0000231

Everted lower lip vermilion
tree view: Abnormality of lower lip
tree view: HP_0012472
IAO_0000115: An abnormal configuration of the lower lip such that it is turned outward i.e., everted, with the Inner aspect of the lower lip vermilion (normally opposing the teeth) being visible in a frontal view.
has alternative id: HP:0000184
has alternative id: HP:0002264
has alternative id: HP:0002712
has alternative id: HP:0004665
has alternative id: HP:0009086
has alternative id: HP:0009093
has db xref: UMLS:C1853246
has db xref: UMLS:C1866234
has exact synonym: Drooping lower lip
has exact synonym: Eclabium of lower lip
has exact synonym: Everted lower lip
has exact synonym: Everted prominent lower lip
has exact synonym: Outward turned lower lip
has OBO namespace: human_phenotype
has related synonym: Protruding lower lip
id: HP:0000232
in subset: hposlim core
type: Class
comment: In frontal view, with the face relaxed, the apparent height of the lower lip vermilion is excessive and the lower incisors may be visible. On profile view, the vermilion is more convex than usual. An everted lower lip may be viewed as pouting, but this designation is a functional term.
subclass of: Abnormality of lower lip
subclass of: HP_0012472
notation: HP:0000232

Thin vermilion border
tree view: Abnormal lip morphology
IAO_0000115: Reduced width of the skin of vermilion border region of upper lip.
has alternative id: HP:0000213
has db xref: SNOMEDCT_US:301348000
has db xref: UMLS:C0578038
has exact synonym: Decreased volume of lip
has exact synonym: Decreased volume of lip vermillion
has exact synonym: Thin lips
has exact synonym: Thin vermillion
has OBO namespace: human_phenotype
has related synonym: Thin vermilion borders
id: HP:0000233
type: Class
comment: The vermilion is the red part of the lips, and the vermilion border is the rim of paler skin that demarcates the vermilion from the rest of the skin of the face.
subclass of: Abnormal lip morphology
notation: HP:0000233

Abnormality of the head
tree view: Abnormality of head or neck
IAO_0000115: An abnormality of the head.
has db xref: UMLS:C4021812
has exact synonym: Abnormal head
has exact synonym: Abnormality of the head
has exact synonym: Head abnormality
has OBO namespace: human_phenotype
id: HP:0000234
type: Class
subclass of: Abnormality of head or neck
notation: HP:0000234

Abnormality of the fontanelles or cranial sutures
tree view: Abnormality of the calvaria
IAO_0000115: Any abnormality of the fontanelles (the regions covered by a thick membrane that normally ossify in the first two years of life) or the cranial sutures (the fibrous joints in which the articulating bones or cartilages of the skull are connected by sutural ligaments ).
has db xref: UMLS:C4025876
has OBO namespace: human_phenotype
id: HP:0000235
type: Class
comment: Fontanels are the fibrous, membrane-covered gaps created when more than two cranial bones are juxtaposed, as opposed to sutures, which are narrow seams of fibrous connective tissue that separate the flat bones of the skull. At birth, an infant has six fontanels (the anterior and posterior, two mastoid, and two sphenoid). The anterior fontanel is the largest and most important for clinical evaluation. The average size of the anterior fontanel is 2.1 cm, and the median time of closure is 13.8 months.
subclass of: Abnormality of the calvaria
notation: HP:0000235

Abnormality of the anterior fontanelle
tree view: HP_0011328
IAO_0000115: An abnormality of the anterior fontanelle, i.e., the cranial fontanelle that is located at the intersection of the coronal and sagittal sutures.
has db xref: UMLS:C4025875
has exact synonym: Abnormality of the forehead soft spot
has OBO namespace: human_phenotype
id: HP:0000236
type: Class
subclass of: HP_0011328
notation: HP:0000236

Small anterior fontanelle
tree view: Abnormality of the anterior fontanelle
IAO_0000115: Abnormally decreased size of the anterior fontanelle with respect to age-dependent norms.
has db xref: UMLS:C1859455
has exact synonym: Small anterior fontanel
has exact synonym: Small forehead fontanel
has OBO namespace: human_phenotype
id: HP:0000237
type: Class
subclass of: Abnormality of the anterior fontanelle
notation: HP:0000237

Hydrocephalus
tree view: Abnormality of the cerebral ventricles
tree view: Abnormality of the cerebrospinal fluid
IAO_0000115: Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.
has alternative id: HP:0007189
has alternative id: HP:0008503
has db xref: MSH:D006849
has db xref: SNOMEDCT_US:230745008
has db xref: UMLS:C0020255
has exact synonym: Hydrocephaly
has exact synonym: Nonsyndromal hydrocephalus
has exact synonym: Too much cerebrospinal fluid in the brain
has OBO namespace: human_phenotype
id: HP:0000238
type: Class
comment: Hydrocephalus results from an imbalance between the rate of production of cerebrospinal fluid (CSF), mainly in the choroid plexus, and its reabsorption in the subarchnoid space over brain and spinal cord.
subclass of: Abnormality of the cerebral ventricles
subclass of: Abnormality of the cerebrospinal fluid
notation: HP:0000238

Large fontanelles
tree view: HP_0011328
IAO_0000115: In newborns, the two frontal bones, two parietal bones, and one occipital bone are joined by fibrous sutures, which form a small posterior fontanelle, and a larger, diamond-shaped anterior fontanelle. These regions allow for the skull to pass the birth canal and for later growth. The fontanelles gradually ossify, whereby the posterior fontanelle usually closes by eight weeks and the anterior fontanelle by the 9th to 16th month of age. Large fontanelles are diagnosed if the fontanelles are larger than age-dependent norms.
has alternative id: HP:0004473
has db xref: SNOMEDCT_US:276709006
has db xref: UMLS:C0456132
has db xref: UMLS:C4072820
has db xref: UMLS:C4072821
has db xref: UMLS:C4072822
has exact synonym: Enlarged fontanelles
has exact synonym: Large fontanel
has exact synonym: Large fontanelle
has exact synonym: Large fontanels
has exact synonym: Persistent wide fontanel
has exact synonym: Wide fontanelles
has narrow synonym: Large bregma sutures
has narrow synonym: Large, late-closing fontanelle
has narrow synonym: Wide bregma sutures
has OBO namespace: human_phenotype
id: HP:0000239
type: Class
comment: There are six membrane-covered openings between the cranial sutures in the incompletely ossified skull of the fetus or newborn infant that normally close sometime after birth (anterior fontanel, cranial fontanel, mastoid fontanel, posterior fontanel, sphenoidal fontanel).
subclass of: HP_0011328
notation: HP:0000239

Abnormality of skull size
tree view: Abnormality of the skull
IAO_0000115: Any abnormality of the size of the skull.
has broad synonym: Abnormality of head size
has db xref: UMLS:C4025874
has exact synonym: Abnormality of cranium size
has exact synonym: Abnormality of skull size
has OBO namespace: human_phenotype
id: HP:0000240
type: Class
subclass of: Abnormality of the skull
notation: HP:0000240

HP_0000241
IAO_0000231: IAO_0000227
IAO_0100001: HP_0005484
type: Class
deprecated: true
notation: HP:0000241

Parietal bossing
tree view: Abnormal parietal bone morphology
IAO_0000115: Parietal bossing is a marked prominence in the parietal region.
has alternative id: HP:0004641
has db xref: UMLS:C1857126
has exact synonym: Biparietal bossing
has exact synonym: Bossing of parietal bone
has OBO namespace: human_phenotype
id: HP:0000242
type: Class
subclass of: Abnormal parietal bone morphology
notation: HP:0000242

Trigonocephaly
tree view: Abnormality of calvarial morphology
IAO_0000115: Wedge-shaped, or triangular head, with the apex of the triangle at the midline of the forehead and the base of the triangle at the occiput.
has broad synonym: Triangular head shape
has broad synonym: Wedge shaped head
has db xref: MSH:D003398
has db xref: SNOMEDCT_US:28740008
has db xref: UMLS:C0265535
has db xref: UMLS:C4280665
has db xref: UMLS:C4280666
has exact synonym: Triangular cranium shape
has exact synonym: Triangular skull shape
has exact synonym: Wedge shaped cranium
has exact synonym: Wedge shaped skull
has OBO namespace: human_phenotype
id: HP:0000243
in subset: hposlim core
type: Class
comment: This shape should be assessed from above, with the examiner looking down on the head of the patient. Trigonocephaly can be caused by premature fusion of the metopic suture.
subclass of: Abnormality of calvarial morphology
notation: HP:0000243

Brachyturricephaly
tree view: Brachycephaly
tree view: Turricephaly
IAO_0000115: Abnormal vertical height of the skull and a shortening of its anterior-posterior length, frequently combined with malformations of the occipital region.
has db xref: UMLS:C1857484
has exact synonym: Brachy-turricephaly
has exact synonym: High, prominent forehead
has exact synonym: Turribrachycephaly
has OBO namespace: human_phenotype
id: HP:0000244
type: Class
subclass of: Brachycephaly
subclass of: Turricephaly
notation: HP:0000244

Abnormality of the paranasal sinuses
tree view: HP_0011821
IAO_0000115: Abnormality of the paranasal (cranial) sinuses, which are air-filled spaces that are located within the bones of the skull and face and communicate with the nasal cavity. They comprise the maxillary sinuses, the frontal sinuses, the ethmoid sinuses, and the sphenoid sinuses.
has broad synonym: Abnormality of the sinuses
has db xref: UMLS:C4025873
has exact synonym: Abnormality of the sinuses of the head
has OBO namespace: human_phenotype
id: HP:0000245
type: Class
subclass of: HP_0011821
notation: HP:0000245

Sinusitis
tree view: Abnormality of the paranasal sinuses
tree view: HP_0012649
IAO_0000115: Inflammation of the paranasal sinuses owing to a viral, bacterial, or fungal infection, allergy, or an autoimmune reaction.
has broad synonym: Sinus infection
has db xref: MSH:D010254
has db xref: MSH:D012852
has db xref: SNOMEDCT_US:36971009
has db xref: SNOMEDCT_US:7393007
has db xref: UMLS:C0030469
has db xref: UMLS:C0037199
has exact synonym: Sinus inflammation
has OBO namespace: human_phenotype
has related synonym: Sinus disease
id: HP:0000246
in subset: hposlim core
type: Class
subclass of: Abnormality of the paranasal sinuses
subclass of: HP_0012649
notation: HP:0000246

HP_0000247
IAO_0000231: IAO_0000227
IAO_0100001: HP_0005469
type: Class
deprecated: true
notation: HP:0000247

Brachycephaly
tree view: Abnormality of calvarial morphology
IAO_0000115: An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width.
has alternative id: HP:0002258
has alternative id: HP:0004479
has alternative id: HP:0008512
has broad synonym: Broad cranium shape
has broad synonym: Broad head shape
has broad synonym: Broad skull shape
has broad synonym: Wide cranium shape
has broad synonym: Wide head shape
has broad synonym: Wide skull shape
has db xref: MSH:D003398
has db xref: SNOMEDCT_US:13649004
has db xref: UMLS:C0221356
has db xref: UMLS:C4072823
has db xref: UMLS:C4072824
has exact synonym: Short and broad skull
has OBO namespace: human_phenotype
id: HP:0000248
in subset: hposlim core
type: Class
comment: Cephalic index is the ratio of head width expressed as a percentage of head length. The normal range is 76-80.9%. Head length is measured between the glabella (the most prominent point on the frontal bone above the root of the nose) and the most prominent part of the occiput in the midline, using spreading calipers. Head width is measured between the most lateral points of the parietal bones on each side of the head, using spreading calipers. Cephalic index standards are derived from Caucasians and have limited relevance for other races and ethnicities. Current norms also have limited validity because of changes in infant sleeping position and consequent changes in head shape. New data should be developed. Brachycephaly is distinct from Flat occiput, but both can be present in the same individual and should be coded separately.
subclass of: Abnormality of calvarial morphology
notation: HP:0000248

HP_0000249
IAO_0000231: IAO_0000227
IAO_0100001: HP_0005469
type: Class
deprecated: true
notation: HP:0000249

Dense calvaria
tree view: Abnormality of the calvaria
tree view: Increased skull ossification
IAO_0000115: An abnormal increase of density of the bones making up the calvaria.
has db xref: UMLS:C1854834
has exact synonym: Dense skull cap
has OBO namespace: human_phenotype
id: HP:0000250
type: Class
subclass of: Abnormality of the calvaria
subclass of: Increased skull ossification
notation: HP:0000250

HP_0000251
IAO_0000231: IAO_0000227
IAO_0100001: Mandibular prognathia
type: Class
deprecated: true
notation: HP:0000251

Microcephaly
tree view: HP_0007364
tree view: HP_0040195
IAO_0000115: Head circumference below 2 standard deviations below the mean for age and gender.
has alternative id: HP:0001366
has alternative id: HP:0005485
has alternative id: HP:0005489
has alternative id: HP:0005497
has broad synonym: Abnormally small head
has broad synonym: Decreased size of head
has broad synonym: Small head
has broad synonym: Small skull
has db xref: Fyler:4310
has db xref: SNOMEDCT_US:271611007
has db xref: UMLS:C0424688
has exact synonym: Abnormally small cranium
has exact synonym: Abnormally small skull
has exact synonym: Decreased circumference of cranium
has exact synonym: Decreased size of cranium
has exact synonym: Decreased size of skull
has exact synonym: Reduced head circumference
has exact synonym: Small head circumference
has exact synonym: small calvarium
has exact synonym: small cranium
has OBO namespace: human_phenotype
id: HP:0000252
in subset: hposlim core
type: Class
comment: Head circumference is measured from just above the glabella (the most prominent point on the frontal bone above the root of the nose) to the most posterior prominent point of the occipital bone using a tape measure. Some standard charts are organized by centiles [Hall et al. [2007]], others by standard deviations [Farkas, [1981]]. It is important to add an indication of how far below the normal standard the head circumference is if an accurate assessment of this can be made. Microcephaly is an absolute term. The term relative microcephaly can be used when the head size centile is less than the centile for height, for example, head size at the 3rd centile with height at the 75% for age and sex. On prenatal ultrasound, microcephaly is diagnosed if the head circumference or the biparietal diameter is more than three standard deviations below the mean.
subclass of: HP_0007364
subclass of: HP_0040195
notation: HP:0000252

Progressive microcephaly
tree view: HP_0005484
IAO_0000115: Progressive microcephaly is diagnosed when the head circumference falls progressively behind age- and gender-dependent norms.
has db xref: UMLS:C1850456
has exact synonym: Microcephaly, postnatal, progressive
has exact synonym: Microcephaly, progressive
has exact synonym: Progressively abnormally small cranium
has exact synonym: Progressively abnormally small skull
has OBO namespace: human_phenotype
id: HP:0000253
type: Class
subclass of: HP_0005484
notation: HP:0000253

HP_0000254
IAO_0000231: IAO_0000227
IAO_0100001: Frontal bossing
type: Class
deprecated: true
notation: HP:0000254

Acute sinusitis
tree view: Sinusitis
IAO_0000115: An acute form of sinusitis.
has db xref: SNOMEDCT_US:15805002
has db xref: UMLS:C0149512
has OBO namespace: human_phenotype
id: HP:0000255
type: Class
subclass of: Sinusitis
notation: HP:0000255

Macrocephaly
tree view: HP_0040194
IAO_0000115: Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.
has alternative id: HP:0005491
has alternative id: HP:0005496
has alternative id: HP:0200135
has broad synonym: Big calvaria
has broad synonym: Big cranium
has broad synonym: Big head
has broad synonym: Big skull
has broad synonym: Increased size of head
has broad synonym: Large calvaria
has broad synonym: Large cranium
has broad synonym: Large skull
has db xref: Fyler:4335
has db xref: UMLS:C4083076
has db xref: UMLS:C4255213
has db xref: UMLS:C4280663
has db xref: UMLS:C4280664
has exact synonym: Increased size of cranium
has exact synonym: Increased size of skull
has exact synonym: Large head
has exact synonym: Large head circumference
has exact synonym: Macrocrania
has exact synonym: Megacephaly
has OBO namespace: human_phenotype
id: HP:0000256
in subset: hposlim core
type: Class
comment: Macrocephaly can be due to hydrocephalus (increased CFSF), megalencephaly (increased brain volume) or thickening of the skull. Head circumference is measured from just above the glabella (the most prominent point on the frontal bone above the root of the nose) to the most posterior prominent point of the occipital bone using a tape measure. Some standard charts are organized by centiles [Hall et al. [2007]], others by standard deviations [Farkas, [1981]]. It is important to add an indication of how far above the normal standard the head circumference is if an accurate assessment of this can be made. Macrocephaly is an absolute term. The term relative macrocephaly can be used when the head size centile exceeds the centile for height, for example, head size at the 75th centile with height at the 5th centile for age and sex.
subclass of: HP_0040194
notation: HP:0000256

HP_0000257
IAO_0000231: IAO_0000227
IAO_0100001: Relative macrocephaly
type: Class
deprecated: true
notation: HP:0000257

HP_0000258
IAO_0000231: IAO_0000227
IAO_0100001: Dolichocephaly
type: Class
deprecated: true
notation: HP:0000258

HP_0000259
IAO_0000231: IAO_0000227
IAO_0100001: HP_0005484
type: Class
deprecated: true
notation: HP:0000259

Wide anterior fontanel
tree view: Abnormality of the anterior fontanelle
tree view: Large fontanelles
IAO_0000115: Enlargement of the anterior fontanelle with respect to age-dependent norms.
has db xref: UMLS:C1866134
has exact synonym: Large anterior fontanel
has exact synonym: Large anterior fontanelle
has exact synonym: Large open anterior fontanel
has exact synonym: Large open anterior fontanelle
has exact synonym: Wide anterior fontanelle
has exact synonym: Wide open anterior fontanelle
has exact synonym: Wider-than-typical soft spot of skull
has OBO namespace: human_phenotype
has related synonym: Large anterior fontanels
id: HP:0000260
type: Class
subclass of: Abnormality of the anterior fontanelle
subclass of: Large fontanelles
notation: HP:0000260

HP_0000261
IAO_0000231: IAO_0000227
IAO_0100001: Progressive macrocephaly
type: Class
deprecated: true
notation: HP:0000261

Turricephaly
tree view: Abnormality of calvarial morphology
IAO_0000115: Tall head relative to width and length.
has alternative id: HP:0001356
has broad synonym: Tall shaped head
has db xref: MSH:D003398
has db xref: SNOMEDCT_US:48069004
has db xref: UMLS:C0030044
has exact synonym: Tall shaped cranium
has exact synonym: Tall shaped skull
has exact synonym: Tower cranium shape
has exact synonym: Tower skull shape
has OBO namespace: human_phenotype
id: HP:0000262
in subset: hposlim core
type: Class
comment: Turricephaly is derived from the Latin word turris, meaning tall, and refers to a round, tall (tower-like) skull. This feature may have previously been considered to overlap with or include a tall forehead. Turricephaly is present when the head appears tall (subjective) and head length and width are reduced compared to normal age-related standards (objective). Head length is measured between the glabella (the most prominent point on the frontal bone above the root of the nose) and the most prominent part of the occiput in the midline, using spreading calipers. Head width is measured between the most lateral points of the parietal bones on each side of the head, using spreading calipers. The term acrocephaly (or oxycephaly) is used when there is turricephaly and the top of the skull assumes a cone shape.
subclass of: Abnormality of calvarial morphology
notation: HP:0000262

Oxycephaly
tree view: Turricephaly
IAO_0000115: Oxycephaly (from Greek oxus, sharp, and kephalos, head) refers to a conical or pointed shape of the skull.
has db xref: MSH:D003398
has db xref: SNOMEDCT_US:48069004
has db xref: UMLS:C0030044
has OBO namespace: human_phenotype
has related synonym: Acrocephaly
id: HP:0000263
type: Class
subclass of: Turricephaly
notation: HP:0000263

Abnormality of the mastoid
tree view: Abnormality of the skull
IAO_0000115: An abnormality of the mastoid process, which is the conical prominence projecting from the undersurface of the mastoid portion of the temporal bone.
has db xref: UMLS:C4025872
has exact synonym: Abnormality of mastoid process of temporal bone
has OBO namespace: human_phenotype
id: HP:0000264
in subset: hposlim core
type: Class
subclass of: Abnormality of the skull
notation: HP:0000264

Mastoiditis
tree view: Abnormality of the mastoid
has db xref: MSH:D008417
has db xref: SNOMEDCT_US:52404001
has db xref: UMLS:C0024904
has OBO namespace: human_phenotype
id: HP:0000265
type: Class
subclass of: Abnormality of the mastoid
notation: HP:0000265

HP_0000266
IAO_0000231: IAO_0000227
IAO_0100001: Headache
type: Class
deprecated: true
notation: HP:0000266

Cranial asymmetry
tree view: Abnormality of calvarial morphology
IAO_0000115: Asymmetry of the bones of the skull.
has broad synonym: Asymmetry of head
has broad synonym: Uneven head shape
has db xref: UMLS:C1860245
has db xref: UMLS:C4280258
has db xref: UMLS:C4280657
has db xref: UMLS:C4280658
has db xref: UMLS:C4280659
has db xref: UMLS:C4280660
has db xref: UMLS:C4280661
has db xref: UMLS:C4280662
has exact synonym: Asymmetry of cranium
has exact synonym: Cranial vault asymmetry
has OBO namespace: human_phenotype
has related synonym: Abnormality of cranial vault shape
has related synonym: Abnormality of cranium shape
has related synonym: Abnormality of head shape
has related synonym: Malformation of cranial vault shape
has related synonym: Malformation of cranium shape
has related synonym: Malformation of head shape
id: HP:0000267
type: Class
subclass of: Abnormality of calvarial morphology
notation: HP:0000267

Dolichocephaly
tree view: Abnormality of calvarial morphology
IAO_0000115: An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture.
has alternative id: HP:0000258
has alternative id: HP:0005440
has broad synonym: Narrow cranium shape
has broad synonym: Narrow head shape
has broad synonym: Narrow skull shape
has broad synonym: Turridolichocephaly
has db xref: SNOMEDCT_US:72239002
has db xref: UMLS:C0221358
has db xref: UMLS:C4280653
has db xref: UMLS:C4280654
has db xref: UMLS:C4280655
has db xref: UMLS:C4280656
has exact synonym: Long, narrow head
has exact synonym: Tall and narrow skull
has narrow synonym: Large dolichocephalic skull
has OBO namespace: human_phenotype
id: HP:0000268
in subset: hposlim core
type: Class
comment: Cephalic index is the ratio of head width expressed as a percentage of head length. The normal range is 76-80.9%. Head length is measured between the glabella (the most prominent point on the frontal bone above the root of the nose) and the most prominent part of the occiput in the midline, using spreading calipers. Head width is measured between the most lateral points of the parietal bones on each side of the head, using spreading calipers. Cephalic index standards are derived from Caucasians and have limited relevance for other races and ethnicities. Current norms have limited validity because of changes in infant sleeping position and consequent changes in head shape. New data should be developed. Dolichocephaly is distinct from Prominent occiput, but both can be present in the same individual and should be coded separately. Scaphocephaly is a subtype of dolichocephaly where the anterior and posterior aspects of the cranial vault are pointed (boat-shaped).
subclass of: Abnormality of calvarial morphology
notation: HP:0000268

Prominent occiput
tree view: HP_0011217
IAO_0000115: Increased convexity of the occiput (posterior part of the skull).
has alternative id: HP:0004489
has broad synonym: Prominent back of the head
has broad synonym: Prominent posterior head
has broad synonym: Protruding back of the head
has db xref: UMLS:C1853737
has db xref: UMLS:C4280652
has exact synonym: Prominent back of the skull
has exact synonym: Prominent posterior cranium
has exact synonym: Prominent posterior skull
has exact synonym: Protruding occiput
has OBO namespace: human_phenotype
id: HP:0000269
in subset: hposlim core
type: Class
comment: Increased convexity of the occiput gives an appearance of prominence. There are no objective measures for convexity of the occiput, and evaluation depends heavily on the experience of the observer. This finding may or may not be accompanied by Dolichocephaly, but this should be coded separately.
subclass of: HP_0011217
notation: HP:0000269

Delayed cranial suture closure
tree view: HP_0011329
IAO_0000115: Infants normally have two fontanels at birth, the diamond-shaped anterior fontanelle at the junction of the coronal and sagittal sutures, and the posterior fontanelle at the intersection of the occipital and parietal bones. The posterior fontanelle usually closes by the 8th week of life, and the anterior fontanel closes by the 18th month of life on average. This term applies if there is delay of closure of the fontanelles beyond the normal age.
has alternative id: HP:0002704
has alternative id: HP:0003794
has db xref: SNOMEDCT_US:82779003
has db xref: UMLS:C0277828
has exact synonym: Broad late closing cranial sutures
has exact synonym: Delayed closure of fontanel
has exact synonym: Delayed closure of fontanelles
has exact synonym: Delayed closure of fontanels
has exact synonym: Delayed closure of the fontanelles
has exact synonym: Delayed cranial suture closure
has exact synonym: Delayed fontanel closure
has exact synonym: Delayed fontanelle closure
has exact synonym: Late closing fontanelles
has exact synonym: Late closure of fontanelle
has exact synonym: Late-closing fontanelle
has exact synonym: Open sutures
has OBO namespace: human_phenotype
id: HP:0000270
type: Class
subclass of: HP_0011329
notation: HP:0000270

Abnormality of the face
tree view: Abnormality of the head
IAO_0000115: An abnormality of the face.
has broad synonym: Abnormality of the countenance
has broad synonym: Abnormality of the physiognomy
has broad synonym: Abnormality of the visage
has broad synonym: Disorder of face
has db xref: SNOMEDCT_US:118930001
has db xref: SNOMEDCT_US:32003007
has db xref: SNOMEDCT_US:398206004
has db xref: SNOMEDCT_US:398302004
has db xref: UMLS:C0266617
has db xref: UMLS:C1290857
has db xref: UMLS:C4025871
has exact synonym: Abnormal face
has exact synonym: Abnormality of the face
has exact synonym: Facial abnormality
has narrow synonym: Disorder of the face
has OBO namespace: human_phenotype
has related synonym: Anomaly of face
has related synonym: Anomaly of the face
has related synonym: Facial anomaly
id: HP:0000271
in subset: hposlim core
type: Class
subclass of: Abnormality of the head
notation: HP:0000271

Malar flattening
tree view: HP_0012369
IAO_0000115: Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.
has alternative id: HP:0000312
has alternative id: HP:0000332
has alternative id: HP:0004642
has alternative id: HP:0004658
has alternative id: HP:0004671
has alternative id: HP:0005319
has alternative id: HP:0005443
has alternative id: HP:0005455
has alternative id: HP:0100846
has db xref: UMLS:C1858085
has db xref: UMLS:C4280651
has exact synonym: Decreased size of malar bone
has exact synonym: Depressed malar region
has exact synonym: Flat cheekbone
has exact synonym: Malar hypoplasia
has exact synonym: Underdevelopment of malar bone
has exact synonym: Zygomatic flattening
has OBO namespace: human_phenotype
has related synonym: Hypotrophic malar bone
id: HP:0000272
in subset: hposlim core
type: Class
comment: The malar process is the most medial and superior portion of the bony midface, articulating with the maxilla and temporal and sphenoid bones, contiguous with the lateral boundary of the nasal bridge. The term malar hypoplasia is no longer preferred because surface examination cannot distinguish hypoplasia from hypotrophy.
subclass of: HP_0012369
notation: HP:0000272

Facial grimacing
tree view: HP_0005324
has db xref: SNOMEDCT_US:37126005
has db xref: UMLS:C0234853
has exact synonym: Facial grimacing
has OBO namespace: human_phenotype
id: HP:0000273
type: Class
subclass of: HP_0005324
notation: HP:0000273

Small face
tree view: Abnormal facial shape
IAO_0000115: A face that is short (HP:0011219) and narrow (HP:0000275).
has db xref: UMLS:C1855538
has exact synonym: Facial hypoplasia
has exact synonym: Hypoplasia of face
has exact synonym: Microface
has exact synonym: Microfacies
has exact synonym: Short and narrow face
has exact synonym: Small face
has exact synonym: Small facies
has OBO namespace: human_phenotype
id: HP:0000274
type: Class
comment: This term represents a combination of two terms, short face and narrow face.
subclass of: Abnormal facial shape
notation: HP:0000274

Narrow face
tree view: Small face
IAO_0000115: Bizygomatic (upper face) and bigonial (lower face) width are both more than 2 standard deviations below the mean (objective); or, an apparent reduction in the width of the upper and lower face (subjective).
has alternative id: HP:0000318
has db xref: UMLS:C1837463
has db xref: UMLS:C1849121
has exact synonym: Decreased breadth of face
has exact synonym: Decreased horizontal dimension of face
has exact synonym: Decreased transverse dimension of face
has exact synonym: Decreased width of face
has exact synonym: Horizontal deficiency of face
has exact synonym: Horizontal hypoplasia of face
has exact synonym: Horizontal insufficiency of face
has exact synonym: Narrow face
has exact synonym: Narrow facies
has exact synonym: Thin facies
has exact synonym: Transverse deficiency of face
has exact synonym: Transverse hypoplasia of face
has exact synonym: Transverse insufficiency of face
has OBO namespace: human_phenotype
has related synonym: Thin face
id: HP:0000275
in subset: hposlim core
type: Class
comment: Objective measurement of the upper facial width is made with spreading calipers. The tips of the calipers are passed over the zygomatic arches until the maximum width is determined. Objective measurement of the lower faces is made with spreading calipers, with the tips firmly pressed against the inferomedial surface of the angle of the mandible.
subclass of: Small face
notation: HP:0000275

Long face
tree view: HP_0100729
IAO_0000115: Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective).
has alternative id: HP:0000334
has db xref: UMLS:C1836047
has exact synonym: Elongation of face
has exact synonym: Increased height of face
has exact synonym: Increased length of face
has exact synonym: Increased vertical dimension of face
has exact synonym: Long face
has exact synonym: Long facies
has exact synonym: Vertical Facial Excess
has exact synonym: Vertical elongation of face
has exact synonym: Vertical enlargement of face
has exact synonym: Vertical excess of face
has exact synonym: Vertical hyperplasia of face
has exact synonym: Vertical overgrowth of face
has OBO namespace: human_phenotype
id: HP:0000276
in subset: hposlim core
type: Class
comment: Objective measurement of the face height is made with sliding calipers from the nasion, just above the depth of the nasal root, to the gnathion, the inferior border of the mandible, both in the midline. Note that long face is distinct from narrow face.
subclass of: HP_0100729
notation: HP:0000276

Abnormality of the mandible
tree view: HP_0030791
IAO_0000115: Any abnormality of the mandible, the bone of the lower jaw.
has alternative id: HP:0000209
has db xref: UMLS:C4025870
has exact synonym: Abnormality of the lower jaw bone
has exact synonym: Abnormality of the mandible
has narrow synonym: Anomaly of the mandible
has narrow synonym: Deformity of the lower jaw bone
has narrow synonym: Deformity of the mandible
has narrow synonym: Malformation of the lower jaw bone
has narrow synonym: Malformation of the mandible
has OBO namespace: human_phenotype
id: HP:0000277
in subset: hposlim core
type: Class
subclass of: HP_0030791
notation: HP:0000277

Retrognathia
tree view: Abnormality of the mandible
IAO_0000115: An abnormality in which the mandible is mislocalised posteriorly.
has alternative id: HP:0002053
has alternative id: HP:0002954
has db xref: MSH:D063173
has db xref: UMLS:C3494422
has exact synonym: Receding chin
has exact synonym: Receding lower jaw
has exact synonym: Receding mandible
has exact synonym: Retrognathia of lower jaw
has exact synonym: Weak chin
has exact synonym: Weak jaw
has narrow synonym: Retrogenia
has OBO namespace: human_phenotype
id: HP:0000278
in subset: hposlim core
type: Class
subclass of: Abnormality of the mandible
notation: HP:0000278

HP_0000279
IAO_0000231: IAO_0000227
IAO_0100001: Mandibular prognathia
type: Class
deprecated: true
notation: HP:0000279

Coarse facial features
tree view: Abnormal facial shape
IAO_0000115: Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues.
has alternative id: HP:0000281
has alternative id: HP:0004640
has db xref: UMLS:C1845847
has db xref: UMLS:C4072825
has exact synonym: Coarse face
has exact synonym: Coarse facial appearance
has exact synonym: Coarse facial features
has exact synonym: Coarse facies
has narrow synonym: Rounded and heavy facial features
has narrow synonym: Thickened facial skin with coarse facial features
has OBO namespace: human_phenotype
id: HP:0000280
in subset: hposlim core
type: Class
subclass of: Abnormal facial shape
notation: HP:0000280

HP_0000281
IAO_0000231: IAO_0000227
IAO_0100001: Coarse facial features
type: Class
deprecated: true
notation: HP:0000281

Facial edema
tree view: Edema
tree view: HP_0011799
has db xref: SNOMEDCT_US:445088006
has db xref: UMLS:C0542571
has exact synonym: Facial puffiness
has exact synonym: Facial swelling
has OBO namespace: human_phenotype
id: HP:0000282
type: Class
subclass of: Edema
subclass of: HP_0011799
notation: HP:0000282

Broad face
tree view: HP_0100729
IAO_0000115: Bizygomatic (upper face) and bigonial (lower face) width greater than 2 standard deviations above the mean (objective); or an apparent increase in the width of the face (subjective).
has db xref: UMLS:C1859680
has exact synonym: Broad face
has exact synonym: Broad facies
has exact synonym: Horizontal excess of face
has exact synonym: Horizontal hyperplasia of face
has exact synonym: Increased breadth of face
has exact synonym: Increased horizontal dimension of face
has exact synonym: Increased transverse dimension of face
has exact synonym: Increased width of face
has exact synonym: Transverse excess of face
has exact synonym: Transverse hyperplasia of face
has exact synonym: Wide face
has exact synonym: Wide facies
has OBO namespace: human_phenotype
id: HP:0000283
in subset: hposlim core
type: Class
comment: Note that broad face is distinct from round face.
subclass of: HP_0100729
notation: HP:0000283

obsolete Abnormality of the ocular region
IAO_0000231: IAO_0000227
IAO_0100001: Abnormality of the orbital region
IAO_0100001: HP:0000315
has OBO namespace: human_phenotype
id: HP:0000284
type: Class
deprecated: true
notation: HP:0000284

HP_0000285
IAO_0000231: IAO_0000227
IAO_0100001: Abnormal eyelid morphology
type: Class
deprecated: true
notation: HP:0000285

Epicanthus
tree view: Abnormal eyelid morphology
IAO_0000115: A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus.
has alternative id: HP:0000624
has alternative id: HP:0007930
has db xref: UMLS:C0678230
has exact synonym: Epicanthal fold
has exact synonym: Epicanthal folds
has exact synonym: Epicanthic folds
has exact synonym: Eye folds
has exact synonym: Palpebronasal fold
has exact synonym: Plica palpebronasalis
has exact synonym: Prominent eye folds
has OBO namespace: human_phenotype
id: HP:0000286
in subset: hposlim core
type: Class
comment: In extreme cases, the skin fold can start as high as the eyebrow; this is called epicanthus superciliaris.
subclass of: Abnormal eyelid morphology
notation: HP:0000286

Increased facial adipose tissue
tree view: Abnormality of facial adipose tissue
IAO_0000115: An increased amount of subcutaneous fat tissue in the face.
has db xref: UMLS:C4025868
has db xref: UMLS:C4280649
has db xref: UMLS:C4280650
has exact synonym: Increased amount of facial adipose tissue
has exact synonym: Increased amount of facial fat
has exact synonym: Increased volume of facial adipose tissue
has narrow synonym: Facial fat hyperplasia
has narrow synonym: Facial fat hypertrophy
has narrow synonym: Hyperplasia of facial adipose tissue
has narrow synonym: Hypertrophy of facial adipose tissue
has OBO namespace: human_phenotype
id: HP:0000287
type: Class
subclass of: Abnormality of facial adipose tissue
notation: HP:0000287

Abnormality of the philtrum
tree view: Abnormality of upper lip
IAO_0000115: An abnormality of the philtrum.
has alternative id: HP:0011216
has db xref: UMLS:C1857045
has exact synonym: Abnormal philtrum
has exact synonym: Abnormality of the infranasal depression
has exact synonym: Abnormality of the paralabial region
has OBO namespace: human_phenotype
id: HP:0000288
in subset: hposlim core
type: Class
comment: The paralabial region is the region surrounding the lips and includes the philtrum.
subclass of: Abnormality of upper lip
notation: HP:0000288

Broad philtrum
tree view: Abnormality of the philtrum
IAO_0000115: Distance between the philtral ridges, measured just above the vermilion border, more than 2 standard deviations above the mean, or alternatively, an apparently increased distance between the ridges of the philtrum.
has db xref: UMLS:C1854111
has exact synonym: Increased breadth of philtrum
has exact synonym: Increased horizontal dimension of philtrum
has exact synonym: Increased transverse dimension of philtrum
has exact synonym: Increased width of philtrum
has exact synonym: Wide philtrum
has OBO namespace: human_phenotype
id: HP:0000289
in subset: hposlim core
type: Class
comment: The mean width of the philtrum was found to be 7 mm in infants by Franz and Sokol [1971] and 9.7 mm in adults by Ward and Jamison [1991]. Measuring width of the philtrum is even more inaccurate than measuring length (vide supra). A broad philtrum may be associated with reduced ridge prominence or a shallow groove, a Smooth philtrum, which should be assessed and coded separately. It may be found with a broad nasal septum.
subclass of: Abnormality of the philtrum
notation: HP:0000289

Abnormality of the forehead
tree view: Abnormality of the face
IAO_0000115: An anomaly of the forehead.
has db xref: UMLS:C4025867
has exact synonym: Abnormality of the forehead
has exact synonym: Abnormality of the frontal region of the face
has narrow synonym: Anomaly of the forehead
has narrow synonym: Deformity of the forehead
has narrow synonym: Malformation of the forehead
has OBO namespace: human_phenotype
id: HP:0000290
in subset: hposlim core
type: Class
subclass of: Abnormality of the face
notation: HP:0000290

Abnormality of facial adipose tissue
tree view: HP_0009124
tree view: HP_0011799
has db xref: UMLS:C4025866
has exact synonym: Abnormality of facial fat
has narrow synonym: Deformity of facial adipose tissue
has narrow synonym: Malformation of facial adipose tissue
has OBO namespace: human_phenotype
id: HP:0000291
type: Class
subclass of: HP_0009124
subclass of: HP_0011799
notation: HP:0000291

Loss of facial adipose tissue
tree view: Abnormality of facial adipose tissue
tree view: HP_0008887
IAO_0000115: Loss of normal subcutaneous fat tissue in the face.
has db xref: UMLS:C1837767
has exact synonym: Decreased amount of facial adipose tissue
has exact synonym: Decreased amount of facial fat
has exact synonym: Decreased volume of facial adipose tissue
has exact synonym: Loss of facial fat
has exact synonym: Loss of facial subcutaneous adipose tissue
has exact synonym: Loss of subcutaneous adipose tissue from face
has OBO namespace: human_phenotype
id: HP:0000292
type: Class
subclass of: Abnormality of facial adipose tissue
subclass of: HP_0008887
notation: HP:0000292

Full cheeks
tree view: Abnormality of the cheek
IAO_0000115: Increased prominence or roundness of soft tissues between zygomata and mandible.
has alternative id: HP:0002262
has alternative id: HP:0004427
has db xref: UMLS:C1866231
has db xref: UMLS:C2748653
has db xref: UMLS:C3806443
has db xref: UMLS:C4280647
has db xref: UMLS:C4280648
has exact synonym: Apple cheeks
has exact synonym: Big cheeks
has exact synonym: Full cheeks
has exact synonym: Increased size of cheeks
has exact synonym: Large cheeks
has OBO namespace: human_phenotype
has related synonym: Chubby cheeks
has related synonym: Hyperplasia of cheeks
has related synonym: Hypertrophy of cheeks
has related synonym: Puffy cheeks
id: HP:0000293
in subset: hposlim core
type: Class
subclass of: Abnormality of the cheek
notation: HP:0000293

Low anterior hairline
tree view: Abnormality of the frontal hairline
IAO_0000115: Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD below the mean. Alternatively, an apparently decreased distance between the hairline and the glabella.
has db xref: UMLS:C1842366
has exact synonym: Low frontal hairline
has exact synonym: Low-set frontal hairline
has OBO namespace: human_phenotype
id: HP:0000294
in subset: hposlim core
type: Class
comment: This feature gives the appearance of a short forehead. It is distinct from hirsutism of the forehead. In the latter, orientation of hair growth is lateral and texture and density of hair differs from scalp hair.
subclass of: Abnormality of the frontal hairline
notation: HP:0000294

Doll-like facies
tree view: Abnormal facial shape
IAO_0000115: A characteristic facial appearance with a round facial form, full cheeks, a short nose, and a relatively small chin.
has db xref: UMLS:C1856361
has exact synonym: Doll-like facial appearance
has OBO namespace: human_phenotype
id: HP:0000295
type: Class
comment: This term represents a bundle of phenotypic features and is kept for historical reasons. It is preferable to annotate the individual clinical findings precisely.
subclass of: Abnormal facial shape
notation: HP:0000295

HP_0000296
IAO_0000231: IAO_0000227
IAO_0100001: HP_0010628
type: Class
deprecated: true
notation: HP:0000296

Facial hypotonia
tree view: Abnormality of facial musculature
tree view: Muscular hypotonia
IAO_0000115: Reduced muscle tone of a muscle that is innervated by the facial nerve (the seventh cranial nerve).
has db xref: UMLS:C1845251
has db xref: UMLS:C4280646
has exact synonym: Decreased facial muscle tone
has exact synonym: Hypotonic facies
has exact synonym: Low facial muscle tone
has exact synonym: Reduced facial muscle tone
has narrow synonym: Atony of facial musculature
has OBO namespace: human_phenotype
id: HP:0000297
type: Class
subclass of: Abnormality of facial musculature
subclass of: Muscular hypotonia
notation: HP:0000297

Mask-like facies
tree view: Decreased facial expression
IAO_0000115: A lack of facial expression often with staring eyes and a slightly open mouth.
has db xref: SNOMEDCT_US:103606006
has db xref: UMLS:C0424448
has exact synonym: Amimia
has exact synonym: Expressionless face
has exact synonym: Lack of facial expression
has exact synonym: Mask-like facial appearance
has exact synonym: Masklike facies
has OBO namespace: human_phenotype
id: HP:0000298
type: Class
comment: Mask-like facies can be seen in many neurological disorders such as Parkinsonism and myotonic dystrophy.
subclass of: Decreased facial expression
notation: HP:0000298

HP_0000299
IAO_0000231: IAO_0000227
IAO_0100001: Smooth philtrum
type: Class
deprecated: true
notation: HP:0000299

Oval face
tree view: Abnormal facial shape
IAO_0000115: A face with a rounded and slightly elongated outline.
has db xref: UMLS:C1849025
has exact synonym: Oval face
has exact synonym: Oval facial shape
has exact synonym: Oval facies
has OBO namespace: human_phenotype
id: HP:0000300
type: Class
subclass of: Abnormal facial shape
notation: HP:0000300

Abnormality of facial musculature
tree view: Abnormality of the musculature
tree view: HP_0011799
IAO_0000115: An anomaly of a muscle that is innervated by the facial nerve (the seventh cranial nerve).
has db xref: UMLS:C4025865
has exact synonym: Abnormality of facial muscles
has exact synonym: Facial muscle issue
has OBO namespace: human_phenotype
id: HP:0000301
type: Class
comment: Facial muscles control facial expression and are innervated by the seventh cranial nerve. Facial muscles around the eye are responsible for eye blink and eyelid closure.
subclass of: Abnormality of the musculature
subclass of: HP_0011799
notation: HP:0000301

HP_0000302
IAO_0000231: IAO_0000227
IAO_0100001: HP_0010628
type: Class
deprecated: true
notation: HP:0000302

Mandibular prognathia
tree view: Abnormality of the mandible
tree view: Abnormality of the chin
IAO_0000115: Abnormal prominence of the chin related to increased length of the mandible.
has alternative id: HP:0000251
has alternative id: HP:0000279
has alternative id: HP:0000328
has alternative id: HP:0002051
has alternative id: HP:0004648
has alternative id: HP:0004656
has alternative id: HP:0008514
has broad synonym: Hypertrophy of lower jaw
has broad synonym: Hypertrophy of mandible
has db xref: MSH:D008313
has db xref: SNOMEDCT_US:109504005
has db xref: SNOMEDCT_US:22810007
has db xref: UMLS:C0302501
has db xref: UMLS:C0399526
has db xref: UMLS:C2227134
has db xref: UMLS:C4280644
has db xref: UMLS:C4280645
has exact synonym: Big lower jaw
has exact synonym: Big mandible
has exact synonym: Enlarged mandible
has exact synonym: Enlargement of mandible
has exact synonym: Hyperplasia of lower jaw
has exact synonym: Increased projection of lower jaw
has exact synonym: Increased projection of mandible
has exact synonym: Increased size of lower jaw
has exact synonym: Large lower jaw
has exact synonym: Large mandible
has exact synonym: Lower jaw excess
has exact synonym: Lower jaw hyperplasia
has exact synonym: Macromandible
has exact synonym: Mandible prognathism
has exact synonym: Mandibular excess
has exact synonym: Mandibular hyperplasia
has exact synonym: Mandibular macrognathia
has exact synonym: Mandibular prognathism
has exact synonym: Prognathia
has exact synonym: Prognathism
has exact synonym: Prominent chin
has exact synonym: Prominent jaw
has exact synonym: Prominent lower jaw
has exact synonym: Prominent mandible
has exact synonym: Relative mandibular prognathism
has OBO namespace: human_phenotype
has related synonym: Increased size of mandible
id: HP:0000303
in subset: hposlim core
type: Class
subclass of: Abnormality of the mandible
subclass of: Abnormality of the chin
notation: HP:0000303

HP_0000304
IAO_0000231: IAO_0000227
IAO_0100001: Round face
type: Class
deprecated: true
notation: HP:0000304

HP_0000305
IAO_0000231: IAO_0000227
IAO_0100001: Deep philtrum
type: Class
deprecated: true
notation: HP:0000305

Abnormality of the chin
tree view: Abnormality of the face
IAO_0000115: An abnormality of the chin, i.e., of the inferior portion of the face lying inferior to the lower lip and including the central prominence of the lower jaw.
has db xref: UMLS:C4025864
has exact synonym: Abnormality of the chin
has narrow synonym: Abnormality of the menton
has narrow synonym: Anomaly of the chin
has narrow synonym: Deformity of the chin
has narrow synonym: Malformation of the chin
has OBO namespace: human_phenotype
id: HP:0000306
in subset: hposlim core
type: Class
subclass of: Abnormality of the face
notation: HP:0000306

Pointed chin
tree view: Abnormality of the chin
IAO_0000115: A marked tapering of the lower face to the chin.
has alternative id: HP:0005330
has db xref: UMLS:C1844505
has exact synonym: Pointed chin
has exact synonym: Pointed mention region
has exact synonym: Pointy chin
has exact synonym: Small pointed chin
has exact synonym: Witch's chin
has OBO namespace: human_phenotype
id: HP:0000307
in subset: hposlim core
type: Class
comment: The two rami of the mandible meet at an acute angle.
subclass of: Abnormality of the chin
notation: HP:0000307

Microretrognathia
tree view: Retrognathia
tree view: Micrognathia
IAO_0000115: A form of developmental hypoplasia of the mandible in which the mandible is mislocalised posteriorly.
has db xref: UMLS:C1839546
has exact synonym: Retromicrognathia
has exact synonym: Small retruded chin
has OBO namespace: human_phenotype
id: HP:0000308
type: Class
subclass of: Retrognathia
subclass of: Micrognathia
notation: HP:0000308

Abnormality of the midface
tree view: Abnormality of the face
IAO_0000115: An anomaly of the midface, which is a region and not an anatomical term. It extends, superiorly, from the inferior orbital margin to, inferiorly, the level of nasal base. It is formed by the maxilla (upper jaw) and zygoma and cheeks and malar region. Traditionally, the nose and premaxilla are not included in the midface.
has db xref: UMLS:C4021811
has exact synonym: Abnormality of the midface
has exact synonym: Anomaly of the midface
has narrow synonym: Deformity of the midface
has narrow synonym: Malformation of the midface
has OBO namespace: human_phenotype
id: HP:0000309
type: Class
subclass of: Abnormality of the face
notation: HP:0000309

HP_0000310
IAO_0000231: IAO_0000227
IAO_0100001: HP_0010620
type: Class
deprecated: true
notation: HP:0000310

Round face
tree view: Abnormal facial shape
IAO_0000115: The facial appearance is more circular than usual as viewed from the front.
has alternative id: HP:0000304
has alternative id: HP:0004653
has broad synonym: Round, full face
has db xref: UMLS:C0239479
has db xref: UMLS:C1856468
has exact synonym: Circular face
has exact synonym: Round face
has exact synonym: Round facial appearance
has exact synonym: Round facial shape
has exact synonym: Round facies
has OBO namespace: human_phenotype
id: HP:0000311
in subset: hposlim core
type: Class
subclass of: Abnormal facial shape
notation: HP:0000311

HP_0000312
IAO_0000231: IAO_0000227
IAO_0100001: Malar flattening
type: Class
deprecated: true
notation: HP:0000312

HP_0000313
IAO_0000231: IAO_0000227
IAO_0100001: Spasticity of facial muscles
type: Class
deprecated: true
notation: HP:0000313

HP_0000314
IAO_0000231: IAO_0000227
IAO_0100001: Narrow forehead
type: Class
deprecated: true
notation: HP:0000314

Abnormality of the orbital region
tree view: Abnormality of the face
has alternative id: HP:0000284
has db xref: UMLS:C4025863
has exact synonym: Abnormality of the eye region
has exact synonym: Abnormality of the region around the eyes
has narrow synonym: Anomaly of the orbital region of the face
has narrow synonym: Deformity of the orbital region of the face
has narrow synonym: Malformation of the orbital region of the face
has OBO namespace: human_phenotype
id: HP:0000315
type: Class
subclass of: Abnormality of the face
notation: HP:0000315

Hypertelorism
tree view: HP_0100886
IAO_0000115: Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).
has alternative id: HP:0000578
has alternative id: HP:0002001
has alternative id: HP:0004657
has alternative id: HP:0007871
has db xref: MSH:D006972
has db xref: SNOMEDCT_US:194021007
has db xref: SNOMEDCT_US:22006008
has db xref: UMLS:C0020534
has exact synonym: Excessive orbital separation
has exact synonym: Increased distance between eye sockets
has exact synonym: Increased distance between eyes
has exact synonym: Increased interpupillary distance
has exact synonym: Ocular hypertelorism
has exact synonym: Wide-set eyes
has exact synonym: Widely spaced eyes
has exact synonym: Widened interpupillary distance
has OBO namespace: human_phenotype
id: HP:0000316
in subset: hposlim core
type: Class
subclass of: HP_0100886
notation: HP:0000316

Facial myokymia
tree view: Abnormality of facial musculature
tree view: Myokymia
IAO_0000115: Facial myokymia is a fine fibrillary activity of one or more muscles innervated by the facial nerve (the seventh cranial nerve).
has alternative id: HP:0004651
has db xref: MSH:D005155
has db xref: SNOMEDCT_US:1070000
has db xref: UMLS:C0270871
has exact synonym: Involuntary facial contraction
has exact synonym: Involuntary facial quivering
has OBO namespace: human_phenotype
id: HP:0000317
type: Class
comment: Facial myokymia may be caused by a plaque of multiple sclerosis or have other causes.
subclass of: Abnormality of facial musculature
subclass of: Myokymia
notation: HP:0000317

HP_0000318
IAO_0000231: IAO_0000227
IAO_0100001: Narrow face
type: Class
deprecated: true
notation: HP:0000318

Smooth philtrum
tree view: Abnormality of the philtrum
IAO_0000115: Flat skin surface, with no ridge formation in the central region of the upper lip between the nasal base and upper vermilion border.
has alternative id: HP:0000299
has alternative id: HP:0000323
has alternative id: HP:0004663
has db xref: UMLS:C1142533
has exact synonym: Decreased depth of philtrum
has exact synonym: Flat philtrum
has exact synonym: Indistinct philtrum
has exact synonym: Philtrum, smooth
has exact synonym: Shallow philtrum
has exact synonym: Simple philtrum
has OBO namespace: human_phenotype
id: HP:0000319
type: Class
comment: There is a spectrum of this finding from total absence of the philtral ridges to a some prominence of the ridges. The central groove varies from absent to shallow. Normal values for the frequency of smooth philtrum are available. Grading of the smoothness of the philtrum, used in the assessment of Fetal Alcohol Syndrome, has been developed. This finding is greatly influenced by the facial expression, and care should be taken to evaluate the philtrum when the face is in a neutral position. A smooth philtrum can be associated with a Long philtrum. However, the two findings should be coded separately.
subclass of: Abnormality of the philtrum
notation: HP:0000319

Bird-like facies
tree view: Abnormal facial shape
has db xref: UMLS:C1837758
has exact synonym: Bird-like facial appearance
has OBO namespace: human_phenotype
id: HP:0000320
type: Class
subclass of: Abnormal facial shape
notation: HP:0000320

Square face
tree view: Abnormal facial shape
IAO_0000115: Facial contours, as viewed from the front, show a broad upper face/cranium and lower face/mandible, creating a square appearance.
has db xref: UMLS:C1832127
has exact synonym: Square face
has exact synonym: Square facial shape
has exact synonym: Square facies
has OBO namespace: human_phenotype
id: HP:0000321
type: Class
subclass of: Abnormal facial shape
notation: HP:0000321

Short philtrum
tree view: Abnormality of the philtrum
IAO_0000115: Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border.
has alternative id: HP:0200090
has db xref: UMLS:C1861324
has exact synonym: Decreased height of philtrum
has exact synonym: Decreased length of philtrum
has exact synonym: Decreased vertical dimension of philtrum
has exact synonym: Vertical hypoplasia of philtrum
has OBO namespace: human_phenotype
id: HP:0000322
in subset: hposlim core
type: Class
subclass of: Abnormality of the philtrum
notation: HP:0000322

HP_0000323
IAO_0000231: IAO_0000227
IAO_0100001: Smooth philtrum
type: Class
deprecated: true
notation: HP:0000323

Facial asymmetry
tree view: Abnormal facial shape
IAO_0000115: An abnormal difference between the left and right sides of the face.
has alternative id: HP:0003775
has db xref: MSH:D005146
has db xref: SNOMEDCT_US:15253005
has db xref: UMLS:C1306710
has exact synonym: Asymmetric facies
has exact synonym: Asymmetry of face
has exact synonym: Asymmetry of right and left side of face
has exact synonym: Crooked face
has exact synonym: Facial asymmetry
has exact synonym: Unsymmetrical face
has OBO namespace: human_phenotype
has related synonym: Unbalanced face
has related synonym: Unequal sides of face
has related synonym: Uneven face
has related synonym: Uneven sides of face
id: HP:0000324
in subset: hposlim core
type: Class
subclass of: Abnormal facial shape
notation: HP:0000324

Triangular face
tree view: Abnormal facial shape
IAO_0000115: Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin.
has alternative id: HP:0004645
has alternative id: HP:0004662
has alternative id: HP:0004668
has db xref: UMLS:C1835884
has exact synonym: Face with broad temples and narrow chin
has exact synonym: Triangular face
has exact synonym: Triangular facial shape
has exact synonym: Triangular facies
has OBO namespace: human_phenotype
id: HP:0000325
in subset: hposlim core
type: Class
subclass of: Abnormal facial shape
notation: HP:0000325

Abnormality of the maxilla
tree view: HP_0030791
IAO_0000115: An abnormality of the Maxilla (upper jaw bone).
has db xref: UMLS:C4025862
has exact synonym: Abnormality of the upper jaw bone
has exact synonym: Abnormality of the upper jaw bones
has narrow synonym: Anomaly of the maxilla
has narrow synonym: Deformity of the maxilla
has narrow synonym: Deformity of the upper jaw bones
has narrow synonym: Malformation of the maxilla
has narrow synonym: Malformation of the upper jaw bones
has OBO namespace: human_phenotype
id: HP:0000326
in subset: hposlim core
type: Class
subclass of: HP_0030791
notation: HP:0000326

Hypoplasia of the maxilla
tree view: Abnormality of the maxilla
IAO_0000115: Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region.
has alternative id: HP:0004644
has broad synonym: Deficiency of upper jaw bones
has db xref: UMLS:C0240310
has db xref: UMLS:C4082243
has db xref: UMLS:C4280640
has db xref: UMLS:C4280641
has db xref: UMLS:C4280642
has db xref: UMLS:C4280643
has exact synonym: Decreased size of maxilla
has exact synonym: Decreased size of upper jaw
has exact synonym: Hypoplasia of upper jaw bones
has exact synonym: Hypoplastic maxillary bones
has exact synonym: Maxillary deficiency
has exact synonym: Maxillary hypoplasia
has exact synonym: Maxillary micrognathia
has exact synonym: Maxillary retrognathia
has exact synonym: Maxillary retrusion
has exact synonym: Micromaxilla
has exact synonym: Small maxilla
has exact synonym: Small upper jaw
has exact synonym: Small upper jaw bones
has exact synonym: Upper jaw deficiency
has exact synonym: Upper jaw retrusion
has narrow synonym: Decreased projection of maxilla
has narrow synonym: Decreased projection of upper jaw
has OBO namespace: human_phenotype
has related synonym: Hypotrophic maxilla
has related synonym: Hypotrophic upper jaw bones
has related synonym: Retrognathia of upper jaw
has related synonym: Retrusion of upper jaw bones
id: HP:0000327
in subset: hposlim core
type: Class
subclass of: Abnormality of the maxilla
notation: HP:0000327

HP_0000328
IAO_0000231: IAO_0000227
IAO_0100001: Mandibular prognathia
type: Class
deprecated: true
notation: HP:0000328

Facial hemangioma
tree view: Hemangioma
tree view: HP_0011799
IAO_0000115: Hemangioma, a benign tumor of the vascular endothelial cells, occurring in the face.
has db xref: UMLS:C1861443
has exact synonym: Facial hemangiomata
has OBO namespace: human_phenotype
id: HP:0000329
type: Class
subclass of: Hemangioma
subclass of: HP_0011799
notation: HP:0000329

HP_0000330
IAO_0000231: IAO_0000227
IAO_0100001: Micrognathia
type: Class
deprecated: true
notation: HP:0000330

Short chin
tree view: Abnormality of the chin
IAO_0000115: Decreased vertical distance from the vermilion border of the lower lip to the inferior-most point of the chin.
has db xref: SNOMEDCT_US:699439001
has db xref: UMLS:C1839323
has db xref: UMLS:C3697248
has exact synonym: Decreased height of chin
has exact synonym: Short chin
has exact synonym: Short lower third of face
has exact synonym: Vertical deficiency of chin
has exact synonym: Vertical hypoplasia of chin
has OBO namespace: human_phenotype
has related synonym: Small chin
id: HP:0000331
type: Class
comment: The term "micrognathia" should be used when the chin is both short (vertical dimension) and narrow (horizontal dimension).
subclass of: Abnormality of the chin
notation: HP:0000331

HP_0000332
IAO_0000231: IAO_0000227
IAO_0100001: Malar flattening
type: Class
deprecated: true
notation: HP:0000332

HP_0000333
IAO_0000231: IAO_0000227
IAO_0100001: Frontal bossing
type: Class
deprecated: true
notation: HP:0000333

HP_0000334
IAO_0000231: IAO_0000227
IAO_0100001: Long face
type: Class
deprecated: true
notation: HP:0000334

HP_0000335
IAO_0000231: IAO_0000227
IAO_0100001: HP_0005328
type: Class
deprecated: true
notation: HP:0000335

Prominent supraorbital ridges
tree view: HP_0100538
IAO_0000115: Greater than average forward and/or lateral protrusion of the supraorbital portion of the frontal bones.
has db xref: UMLS:C1842060
has db xref: UMLS:C4280636
has db xref: UMLS:C4280637
has db xref: UMLS:C4280638
has db xref: UMLS:C4280639
has exact synonym: Prominent brow
has exact synonym: Prominent supraorbital margins
has exact synonym: Prominent supraorbital ridge
has exact synonym: Protruding supraorbital ridge
has exact synonym: Supraorbital hyperostosis
has narrow synonym: Hyperplasia of supraorbital margins
has narrow synonym: Hyperplasia of supraorbital ridge
has narrow synonym: Hypertrophy of supraorbital margins
has narrow synonym: Hypertrophy of supraorbital ridge
has OBO namespace: human_phenotype
id: HP:0000336
in subset: hposlim core
type: Class
subclass of: HP_0100538
notation: HP:0000336

Broad forehead
tree view: Abnormality of the forehead
IAO_0000115: Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead.
has alternative id: HP:0000352
has alternative id: HP:0000354
has db xref: UMLS:C1849089
has exact synonym: Bitemporal widening
has exact synonym: Broad forehead
has exact synonym: Increased bitemporal dimension
has exact synonym: Increased bitemporal width
has exact synonym: Increased width of the forehead
has exact synonym: Intertemporal widening
has exact synonym: Wide forehead
has OBO namespace: human_phenotype
id: HP:0000337
in subset: hposlim core
type: Class
comment: Frontotemporalis is a point lateral to the vertical component of the supraorbital ridge, where there is a hollowing. Spreading caliper tips are placed in the deepest part of that hollow. Note that this term should not be confused with prominent forehead.
subclass of: Abnormality of the forehead
notation: HP:0000337

Hypomimic face
tree view: Abnormality of facial musculature
tree view: Decreased facial expression
IAO_0000115: A reduced degree of motion of the muscles beneath the skin of the face, often associated with reduced facial crease formation.
has alternative id: HP:0008769
has db xref: SNOMEDCT_US:248149005
has db xref: UMLS:C0813217
has db xref: UMLS:C1862474
has db xref: UMLS:C4280635
has exact synonym: Dull facial expression
has exact synonym: Hypomimia
has OBO namespace: human_phenotype
has related synonym: Decreased facial expressions
has related synonym: Decreased facial muscle movement
id: HP:0000338
type: Class
comment: The movement and position of facial muscles are often interpreted as expressing emotions. Individuals with hypomimic face may be perceived as expressing less emotion than normal.
subclass of: Abnormality of facial musculature
subclass of: Decreased facial expression
notation: HP:0000338

Pugilistic facies
tree view: Coarse facial features
IAO_0000115: Coarse facial features reminiscent of those of a boxer.
has db xref: UMLS:C1846011
has exact synonym: Boxer-like facial appearance
has exact synonym: Pugilistic facial appearance
has OBO namespace: human_phenotype
id: HP:0000339
type: Class
subclass of: Coarse facial features
notation: HP:0000339

Sloping forehead
tree view: Abnormality of the forehead
IAO_0000115: Inclination of the anterior surface of the forehead from the vertical more than two standard deviations above the mean (objective); or apparently excessive posterior sloping of the forehead in a lateral view.
has alternative id: HP:0000351
has alternative id: HP:0004480
has alternative id: HP:0008493
has alternative id: HP:0008500
has db xref: UMLS:C1857679
has exact synonym: Inclined forehead
has exact synonym: Posteriorly sloping forehead
has exact synonym: Receding forehead
has exact synonym: Sloping forehead
has OBO namespace: human_phenotype
id: HP:0000340
in subset: hposlim core
type: Class
comment: Measurement requires an angle meter, inclined on the anterior surface of the forehead, in the midline, along a line connecting the hairline to the glabella, compared to the vertical.
subclass of: Abnormality of the forehead
notation: HP:0000340

Narrow forehead
tree view: Abnormality of the forehead
IAO_0000115: Width of the forehead or distance between the frontotemporales is more than two standard deviations below the mean (objective); or apparently narrow intertemporal region (subjective).
has alternative id: HP:0000314
has alternative id: HP:0004674
has alternative id: HP:0004677
has db xref: UMLS:C1839758
has exact synonym: Bitemporal narrowing
has exact synonym: Bitemporal narrowness
has exact synonym: Bitemporal skull narrowing
has exact synonym: Decreased width of the forehead
has exact synonym: Intertemporal narrowing
has exact synonym: Narrow bitemporal diameter
has exact synonym: Narrow bitemporal width
has exact synonym: Narrow forehead
has exact synonym: Temporal narrowness
has OBO namespace: human_phenotype
id: HP:0000341
in subset: hposlim core
type: Class
comment: A reduced distance between the temporal regions (temples) on each side of the head to one another. Frontotemporalis is a point lateral to the vertical component of the supraorbital ridge, where there is a hollowing. Spreading caliper tips are placed in the deepest part of that hollow.
subclass of: Abnormality of the forehead
notation: HP:0000341

HP_0000342
IAO_0000231: IAO_0000227
IAO_0100001: High forehead
type: Class
deprecated: true
notation: HP:0000342

Long philtrum
tree view: Abnormality of the philtrum
IAO_0000115: Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.
has db xref: UMLS:C1865014
has exact synonym: Elongated philtrum
has exact synonym: Increased height of philtrum
has exact synonym: Increased length of philtrum
has exact synonym: Increased vertical dimension of philtrum
has exact synonym: Vertical hyperplasia of philtrum
has OBO namespace: human_phenotype
id: HP:0000343
in subset: hposlim core
type: Class
subclass of: Abnormality of the philtrum
notation: HP:0000343

HP_0000344
IAO_0000231: IAO_0000227
IAO_0100001: HP_0010628
type: Class
deprecated: true
notation: HP:0000344

HP_0000345
IAO_0000231: IAO_0000227
IAO_0100001: Micrognathia
type: Class
deprecated: true
notation: HP:0000345

Whistling appearance
tree view: Pursed lips
IAO_0000115: An abnormality of facial morphology characterized by a small mouth opening and constant contraction of the lips as if the patient were whistling.
has db xref: UMLS:C1848473
has exact synonym: Whistling appearance
has exact synonym: Whistling facial appearance
has OBO namespace: human_phenotype
id: HP:0000346
type: Class
subclass of: Pursed lips
notation: HP:0000346

Micrognathia
tree view: HP_0009118
IAO_0000115: Developmental hypoplasia of the mandible.
has alternative id: HP:0000210
has alternative id: HP:0000330
has alternative id: HP:0000345
has alternative id: HP:0002005
has alternative id: HP:0002674
has alternative id: HP:0004669
has alternative id: HP:0005460
has alternative id: HP:0005470
has broad synonym: Deficiency of lower jaw
has db xref: Fyler:4163
has db xref: MSH:D008844
has db xref: SNOMEDCT_US:32958008
has db xref: UMLS:C0025990
has db xref: UMLS:C0240295
has db xref: UMLS:C1857130
has exact synonym: Decreased size of lower jaw
has exact synonym: Decreased size of mandible
has exact synonym: Hypoplasia of lower jaw
has exact synonym: Hypoplasia of mandible
has exact synonym: Hypoplastic mandible
has exact synonym: Hypoplastic mandible condyle
has exact synonym: Hypotrophic lower jaw
has exact synonym: Hypotrophic mandible
has exact synonym: Little lower jaw
has exact synonym: Little mandible
has exact synonym: Lower jaw deficiency
has exact synonym: Lower jaw hypoplasia
has exact synonym: Lower jaw retrognathia
has exact synonym: Lower jaw retrusion
has exact synonym: Mandibular deficiency
has exact synonym: Mandibular hypoplasia
has exact synonym: Mandibular micrognathia
has exact synonym: Mandibular retrognathia
has exact synonym: Mandibular retrusion
has exact synonym: Micrognathia of lower jaw
has exact synonym: Micromandible
has exact synonym: Robin mandible
has exact synonym: Severe hypoplasia of mandible
has exact synonym: Small jaw
has exact synonym: Small lower jaw
has exact synonym: Small mandible
has exact synonym: Underdevelopment of lower jaw
has exact synonym: Underdevelopment of mandible
has narrow synonym: Decreased projection of lower jaw
has narrow synonym: Decreased projection of mandible
has OBO namespace: human_phenotype
has related synonym: Retrusion of lower jaw
id: HP:0000347
in subset: hposlim core
type: Class
comment: Mandibular hypoplasia, also known as micrognathia, is a term that describes an abnormally small lower jaw.
subclass of: HP_0009118
notation: HP:0000347

High forehead
tree view: Abnormality of the forehead
IAO_0000115: An abnormally increased height of the forehead.
has alternative id: HP:0000342
has db xref: UMLS:C0239676
has db xref: UMLS:C2677762
has exact synonym: High forehead
has OBO namespace: human_phenotype
has related synonym: Tall forehead
id: HP:0000348
type: Class
subclass of: Abnormality of the forehead
notation: HP:0000348

Widow's peak
tree view: HP_0009890
IAO_0000115: Frontal hairline with bilateral arcs to a low point in the midline of the forehead.
has db xref: UMLS:C1853486
has exact synonym: Hairline peak
has exact synonym: Hairline point
has exact synonym: V-shaped frontal hairline
has exact synonym: Widow's peak
has OBO namespace: human_phenotype
id: HP:0000349
in subset: hposlim core
type: Class
comment: The hair may need to be pulled back to recognize this feature. Historically, English widows in the 18th century wore a black hat, triangular in shape, with a point facing forward in the midline.
subclass of: HP_0009890
notation: HP:0000349

Small forehead
tree view: Abnormality of the forehead
IAO_0000115: The presence of a forehead that is abnormally small.
has db xref: UMLS:C1845250
has db xref: UMLS:C4280633
has db xref: UMLS:C4280634
has exact synonym: Decreased size of forehead
has exact synonym: Decreased size of frontal region of face
has exact synonym: Small forehead
has narrow synonym: Hypoplasia of forehead
has narrow synonym: Hypotrophic forehead
has OBO namespace: human_phenotype
id: HP:0000350
type: Class
subclass of: Abnormality of the forehead
notation: HP:0000350

HP_0000351
IAO_0000231: IAO_0000227
IAO_0100001: Sloping forehead
type: Class
deprecated: true
notation: HP:0000351

HP_0000352
IAO_0000231: IAO_0000227
IAO_0100001: Broad forehead
type: Class
deprecated: true
notation: HP:0000352

HP_0000353
IAO_0000231: IAO_0000227
IAO_0100001: HP_0010628
type: Class
deprecated: true
notation: HP:0000353

HP_0000354
IAO_0000231: IAO_0000227
IAO_0100001: Broad forehead
type: Class
deprecated: true
notation: HP:0000354

HP_0000355
IAO_0000231: IAO_0000227
IAO_0100001: Decreased circulating aldosterone level
type: Class
deprecated: true
notation: HP:0000355

Abnormality of the outer ear
tree view: HP_0031703
IAO_0000115: An abnormality of the external ear.
has alternative id: HP:0001752
has db xref: SNOMEDCT_US:275259005
has db xref: UMLS:C0266589
has db xref: UMLS:C1846460
has exact synonym: Abnormal pinnae
has exact synonym: Abnormality of the auricle
has exact synonym: Abnormality of the external ear
has exact synonym: Abnormality of the outer ear
has exact synonym: Ear anomalies
has exact synonym: External ear malformations
has exact synonym: Malformed pinnae
has exact synonym: Outer ear abnormality
has OBO namespace: human_phenotype
id: HP:0000356
type: Class
subclass of: HP_0031703
notation: HP:0000356

Abnormal location of ears
tree view: Abnormality of the outer ear
IAO_0000115: Abnormal location of the ear.
has db xref: UMLS:C4021810
has exact synonym: Abnormal location of ears
has exact synonym: External ear position defect
has OBO namespace: human_phenotype
id: HP:0000357
type: Class
subclass of: Abnormality of the outer ear
notation: HP:0000357

Posteriorly rotated ears
tree view: Abnormal location of ears
IAO_0000115: A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front).
has alternative id: HP:0008535
has db xref: SNOMEDCT_US:253251006
has db xref: UMLS:C0431478
has exact synonym: Ear, posterior angulation, increased
has exact synonym: Ears rotated toward back of head
has exact synonym: Posteriorly angulated ears
has exact synonym: Posteriorly rotated
has exact synonym: Posteriorly rotated auricles
has exact synonym: Posteriorly-angulated ears
has exact synonym: Posteriorly-rotated ears
has OBO namespace: human_phenotype
id: HP:0000358
in subset: hposlim core
type: Class
comment: Angle formed by the line perpendicular to the Frankfurt plane and the medial longitudinal axis of the ear (the two most remote points of the ear) greater than two standard deviations above the mean for age.
subclass of: Abnormal location of ears
notation: HP:0000358

Abnormality of the inner ear
tree view: HP_0031703
IAO_0000115: An abnormality of the inner ear.
has db xref: UMLS:C4021809
has exact synonym: Abnormality of the inner ear
has exact synonym: Inner ear abnormality
has OBO namespace: human_phenotype
id: HP:0000359
type: Class
subclass of: HP_0031703
notation: HP:0000359

Tinnitus
tree view: Hearing abnormality
IAO_0000115: Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation.
has db xref: MSH:D014012
has db xref: SNOMEDCT_US:162349004
has db xref: SNOMEDCT_US:162352007
has db xref: SNOMEDCT_US:60862001
has db xref: UMLS:C0040264
has exact synonym: Ringing in ears
has exact synonym: Ringing in the ears
has OBO namespace: human_phenotype
id: HP:0000360
in subset: hposlim core
type: Class
subclass of: Hearing abnormality
notation: HP:0000360

obsolete Pulsatile tinnitus (tympanic paraganglioma)
IAO_0000231: IAO_0000227
IAO_0100001: HP_0008629
IAO_0100001: HP:0008629
has OBO namespace: human_phenotype
id: HP:0000361
type: Class
deprecated: true
notation: HP:0000361

Otosclerosis
tree view: HP_0008628
IAO_0000115: In otosclerosis, a callus of bone accumulates on the stapes creating a partial fixation. This limits the movement of the stapes bone, which results in hearing loss.
has db xref: MSH:D010040
has db xref: SNOMEDCT_US:11543004
has db xref: UMLS:C0029899
has OBO namespace: human_phenotype
id: HP:0000362
in subset: hposlim core
type: Class
comment: Otosclerosis cannot be seen on an office examination. The audiogram indicates a conductive type of hearing loss. Testing of the stapedial reflexes indicates limited or no movement of the bones of hearing.
subclass of: HP_0008628
notation: HP:0000362

Abnormality of earlobe
tree view: Abnormality of the pinna
IAO_0000115: An abnormality of the lobule of pinna.
has db xref: UMLS:C4021808
has exact synonym: Abnormal earlobe
has exact synonym: Abnormal lobe of ear
has exact synonym: Abnormality of auricular lobule
has exact synonym: Abnormality of ear lobe
has exact synonym: Abnormality of earlobe
has exact synonym: Abnormality of lobulus auriculae
has OBO namespace: human_phenotype
id: HP:0000363
in subset: hposlim core
type: Class
subclass of: Abnormality of the pinna
notation: HP:0000363

Hearing abnormality
tree view: HP_0031704
IAO_0000115: An abnormality of the sensory perception of sound.
has db xref: UMLS:C4025860
has exact synonym: Abnormal hearing
has exact synonym: Hearing abnormality
has OBO namespace: human_phenotype
id: HP:0000364
type: Class
comment: According to the World Health Organization, deafness refers to the complete loss of hearing ability in one or two ears. Hearing impairment refers to both complete and partial loss of the ability to hear.
subclass of: HP_0031704
notation: HP:0000364

Hearing impairment
tree view: Hearing abnormality
IAO_0000115: A decreased magnitude of the sensory perception of sound.
has alternative id: HP:0000404
has alternative id: HP:0001728
has alternative id: HP:0001729
has alternative id: HP:0001754
has alternative id: HP:0008560
has alternative id: HP:0008563
has db xref: Fyler:4868
has db xref: MSH:D003638
has db xref: MSH:D034381
has db xref: SNOMEDCT_US:103276001
has db xref: SNOMEDCT_US:15188001
has db xref: SNOMEDCT_US:343087000
has db xref: SNOMEDCT_US:95828007
has db xref: UMLS:C0011053
has db xref: UMLS:C0018772
has db xref: UMLS:C0339789
has db xref: UMLS:C1384666
has exact synonym: Congenital deafness
has exact synonym: Congenital hearing loss
has exact synonym: Deafness
has exact synonym: Hearing defect
has exact synonym: Hearing impairment
has OBO namespace: human_phenotype
has related synonym: Hearing loss
has related synonym: Hypoacusis
id: HP:0000365
type: Class
comment: Hearing loss can be categorized by which part of the auditory system is damaged, as conductive hearing loss, sensorineural hearing loss, and mixed hearing loss. Another axis of classification uses the degree of hearing impairment. The degree of hearing loss is computed by using a three frequency average taken at 500 Hz, 1,000 Hz and 2,000 Hz. The average of these three frequencies is called the Pure Tone Average (PTA). 0-20 dB is considered normal, 21-40 dB mild loss, 41-60 dB moderate loss, 61-70 dB moderately severe loss,71-90 dB severe loss, and greater than 90 dB profound loss. Note that the word deafness is occasionally used to describe partial hearing loss. The World Health Organization uses the word deafness to refer to complete loss of the ability to hear, and hearing impairment to refer to any degree of reduced hearing.
subclass of: Hearing abnormality
notation: HP:0000365

Abnormality of the nose
tree view: Abnormality of the face
IAO_0000115: An abnormality of the nose.
has db xref: SNOMEDCT_US:128274005
has db xref: SNOMEDCT_US:72089000
has db xref: UMLS:C0240547
has db xref: UMLS:C0265736
has db xref: UMLS:C2235909
has exact synonym: Abnormality of the nose
has exact synonym: Anomaly of the nose
has exact synonym: Nasal abnormality
has exact synonym: Nasal anomaly
has narrow synonym: Deformity of the nose
has narrow synonym: Malformation of the nose
has narrow synonym: Nasal deformity
has narrow synonym: Nasal malformation
has OBO namespace: human_phenotype
id: HP:0000366
in subset: hposlim core
type: Class
subclass of: Abnormality of the face
notation: HP:0000366

HP_0000367
IAO_0000231: IAO_0000227
IAO_0100001: Conductive hearing impairment
type: Class
deprecated: true
notation: HP:0000367

Low-set, posteriorly rotated ears
tree view: Posteriorly rotated ears
tree view: Low-set ears
IAO_0000115: Ears that are low-set (HP:0000369) and posteriorly rotated (HP:0000358).
has db xref: UMLS:C1857486
has exact synonym: Low-set posteriorly rotated ears
has OBO namespace: human_phenotype
id: HP:0000368
type: Class
comment: This bundled term is left for convenience because of its common use in the literature. It is preferable to code each feature separately.
subclass of: Posteriorly rotated ears
subclass of: Low-set ears
notation: HP:0000368

Low-set ears
tree view: Abnormal location of ears
IAO_0000115: Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.
has db xref: SNOMEDCT_US:95515009
has db xref: UMLS:C0239234
has exact synonym: Low set ears
has exact synonym: Low-set ears
has exact synonym: Lowset ears
has exact synonym: Melotia
has OBO namespace: human_phenotype
id: HP:0000369
in subset: hposlim core
type: Class
subclass of: Abnormal location of ears
notation: HP:0000369

Abnormality of the middle ear
tree view: HP_0031703
IAO_0000115: An abnormality of the middle ear.
has db xref: UMLS:C1861141
has exact synonym: Middle ear abnormalities
has exact synonym: Middle ear abnormality
has OBO namespace: human_phenotype
id: HP:0000370
in subset: hposlim core
type: Class
subclass of: HP_0031703
notation: HP:0000370

Acute otitis media
tree view: Otitis media
IAO_0000115: Acute otitis media is a short and generally painful infection of the middle ear.
has db xref: SNOMEDCT_US:3110003
has db xref: UMLS:C0271429
has exact synonym: Acute middle ear infection
has OBO namespace: human_phenotype
id: HP:0000371
type: Class
subclass of: Otitis media
notation: HP:0000371

Abnormality of the auditory canal
tree view: Abnormality of the outer ear
IAO_0000115: An abnormality of the External acoustic tube (also known as the auditory canal).
has db xref: UMLS:C4021807
has exact synonym: Auditory canal abnormality
has OBO namespace: human_phenotype
id: HP:0000372
type: Class
subclass of: Abnormality of the outer ear
notation: HP:0000372

HP_0000373
IAO_0000231: IAO_0000227
IAO_0100001: Stenosis of the external auditory canal
type: Class
deprecated: true
notation: HP:0000373

HP_0000374
IAO_0000231: IAO_0000227
IAO_0100001: Sensorineural hearing impairment
type: Class
deprecated: true
notation: HP:0000374

Abnormal cochlea morphology
tree view: HP_0011390
IAO_0000115: An abnormality of the cochlea.
has db xref: UMLS:C4025858
has exact synonym: Abnormality of cochlea
has OBO namespace: human_phenotype
id: HP:0000375
type: Class
comment: The cochlea is an inner ear structure comprised of a snail-shell like structure divided into three fluid-filled parts. Two are canals for the transmission of pressure and in the third is the organ of Corti, which detects pressure impulses and responds with electrical impulses which travel along the auditory nerve to the brain.
subclass of: HP_0011390
notation: HP:0000375

Incomplete partition of the cochlea type II
tree view: HP_0011373
IAO_0000115: IWith incomplete partition II, the cochlea consists of 1.5 turns; the apical and middle cochlea turns are undifferentiated and form a cystic apex. The vestibule is normal while the vestibular aqueduct is always enlarged. Developmental arrest occurs at the seventh week of gestation.
has db xref: UMLS:C1857078
has db xref: UMLS:C4025857
has OBO namespace: human_phenotype
has related synonym: Mondini malformation
id: HP:0000376
type: Class
subclass of: HP_0011373
notation: HP:0000376

Abnormality of the pinna
tree view: Abnormality of the outer ear
IAO_0000115: An abnormality of the pinna, which is also referred to as the auricle or external ear.
has alternative id: HP:0000390
has alternative id: HP:0000398
has alternative id: HP:0004465
has alternative id: HP:0008562
has alternative id: HP:0008566
has alternative id: HP:0008567
has alternative id: HP:0008580
has alternative id: HP:0008582
has alternative id: HP:0008602
has db xref: SNOMEDCT_US:253255002
has db xref: UMLS:C0431483
has db xref: UMLS:C0857379
has exact synonym: Abnormal form of ears
has exact synonym: Abnormally shaped ears
has exact synonym: Auricular malformation
has exact synonym: Deformed auricles
has exact synonym: Deformed ears
has exact synonym: Dysplastic ears
has exact synonym: Malformation of auricle
has exact synonym: Malformed auricles
has exact synonym: Malformed ears
has exact synonym: Malformed external ears
has exact synonym: Minor malformation of the auricles
has exact synonym: Poorly defined conchae
has exact synonym: Simple ears
has OBO namespace: human_phenotype
id: HP:0000377
type: Class
comment: The term 'dysplastic' is no longer accepted as a descriptor for an ear with unusual morphology. Each specific anatomical component of the ear should be described when the ear is thought to be abnormal in appearance.
subclass of: Abnormality of the outer ear
notation: HP:0000377

Cupped ear
tree view: Abnormality of the pinna
IAO_0000115: Laterally protruding ear that lacks antihelical folding (including absence of inferior and superior crura).
has alternative id: HP:0008531
has alternative id: HP:0008600
has db xref: UMLS:C1845447
has db xref: UMLS:C4020892
has exact synonym: Cup-shaped ears
has exact synonym: Cupped ear
has exact synonym: Simple, cup-shaped ears
has OBO namespace: human_phenotype
has related synonym: Capuchin ears
has related synonym: Cupped ears
id: HP:0000378
in subset: hposlim core
type: Class
subclass of: Abnormality of the pinna
notation: HP:0000378

HP_0000379
IAO_0000231: IAO_0000227
IAO_0100001: HP_0011266
type: Class
deprecated: true
notation: HP:0000379

HP_0000380
IAO_0000231: IAO_0000227
IAO_0100001: HP_0011039
type: Class
deprecated: true
notation: HP:0000380

Stapes ankylosis
tree view: HP_0008628
IAO_0000115: Stapes ankylosis refers to congenital or acquired fixation of the stapes (the stirrup-shaped small bone or ossicle in the middle ear), which is associated with conductive hearing resulting from impairment of the sound-conduction mechanism (the external auditory canal, tympanic membrane, and/or middle-ear ossicles).
has db xref: UMLS:C1861326
has OBO namespace: human_phenotype
id: HP:0000381
in subset: hposlim core
type: Class
comment: Stapes ankylosis may be congenital or acquired, in which case it is referred to as otosclerosis. Otosclerosis is the most common cause of progressive conductive hearing loss in adults, and is generally manifested as nonsyndromic, delayed-onset, conductive hearing loss, but it may also affect the inner ear to cause sensorineural loss. Congenital stapes ankylosis may be difficult to differentiate from otosclerosis when the diagnosis of conductive hearing loss is delayed.
subclass of: HP_0008628
notation: HP:0000381

HP_0000382
IAO_0000231: IAO_0000227
IAO_0100001: Macrotia
type: Class
deprecated: true
notation: HP:0000382

Abnormality of periauricular region
tree view: Abnormality of the cheek
has db xref: UMLS:C4025856
has narrow synonym: Abnormality of the region around the ear
has narrow synonym: Anomaly of the periauricular region
has narrow synonym: Deformity of the periauricular region
has narrow synonym: Malformation of the periauricular region
has OBO namespace: human_phenotype
id: HP:0000383
type: Class
subclass of: Abnormality of the cheek
notation: HP:0000383

Preauricular skin tag
tree view: Abnormality of periauricular region
tree view: HP_0010609
IAO_0000115: A rudimentary tag of skin often containing ear tissue including a core of cartilage and located just anterior to the auricle (outer part of the ear).
has alternative id: HP:0008575
has alternative id: HP:0100278
has broad synonym: Skin tag in front of the ear
has broad synonym: Skin tag on the posterior cheek
has db xref: UMLS:C1860816
has db xref: UMLS:C4072826
has exact synonym: Ear tag
has exact synonym: Periauricular skin tag
has exact synonym: Preauricular acrochordon
has exact synonym: Preauricular fibroepithelial polyp
has exact synonym: Preauricular skin tags
has exact synonym: Preauricular tag
has exact synonym: Preauricular tags
has OBO namespace: human_phenotype
id: HP:0000384
type: Class
subclass of: Abnormality of periauricular region
subclass of: HP_0010609
notation: HP:0000384

Small earlobe
tree view: HP_0009906
IAO_0000115: Reduced volume of the earlobe.
has alternative id: HP:0008616
has db xref: UMLS:C1842680
has exact synonym: Hypoplastic earlobes
has exact synonym: Hypoplastic lobules
has exact synonym: Small earlobe
has exact synonym: Small earlobes
has OBO namespace: human_phenotype
id: HP:0000385
in subset: hposlim core
type: Class
comment: All gradations in size of the earlobe may be seen from absent to clearly enlarged compared to average. This finding is highly variable.
subclass of: HP_0009906
notation: HP:0000385

HP_0000386
IAO_0000231: IAO_0000227
IAO_0100001: Macrotia
type: Class
deprecated: true
notation: HP:0000386

Absent earlobe
tree view: HP_0009906
IAO_0000115: Absence of fleshy non-cartilaginous tissue inferior to the tragus and incisura.
has db xref: UMLS:C1849364
has exact synonym: Absent ear lobes
has exact synonym: Absent earlobe
has exact synonym: Earlobe, absent
has exact synonym: Lobeless ears
has OBO namespace: human_phenotype
id: HP:0000387
in subset: hposlim core
type: Class
subclass of: HP_0009906
notation: HP:0000387

Otitis media
tree view: Abnormality of the middle ear
tree view: HP_0012649
IAO_0000115: Inflammation or infection of the middle ear.
has db xref: MSH:D010033
has db xref: SNOMEDCT_US:65363002
has db xref: UMLS:C0029882
has exact synonym: Middle ear infection
has OBO namespace: human_phenotype
id: HP:0000388
type: Class
subclass of: Abnormality of the middle ear
subclass of: HP_0012649
notation: HP:0000388

Chronic otitis media
tree view: Otitis media
IAO_0000115: Chronic otitis media refers to fluid, swelling, or infection of the middle ear that does not heal and may cause permanent damage to the ear.
has alternative id: HP:0008524
has db xref: SNOMEDCT_US:21186006
has db xref: UMLS:C0271441
has db xref: UMLS:C0743359
has exact synonym: Chronic infections of the middle ear
has exact synonym: Otitis media, chronic
has OBO namespace: human_phenotype
has related synonym: Chronic ear infection
has related synonym: Chronic middle ear infection
id: HP:0000389
in subset: hposlim core
type: Class
subclass of: Otitis media
notation: HP:0000389

HP_0000390
IAO_0000231: IAO_0000227
IAO_0100001: Abnormality of the pinna
type: Class
deprecated: true
notation: HP:0000390

Thickened helices
tree view: HP_0011039
IAO_0000115: Increased thickness of the helix of the ear.
has db xref: UMLS:C1837732
has exact synonym: Thick helix
has OBO namespace: human_phenotype
id: HP:0000391
in subset: hposlim core
type: Class
subclass of: HP_0011039
notation: HP:0000391

HP_0000392
IAO_0000231: IAO_0000227
IAO_0100001: Preauricular pit
type: Class
deprecated: true
notation: HP:0000392

HP_0000393
IAO_0000231: IAO_0000227
IAO_0100001: HP_0008551
type: Class
deprecated: true
notation: HP:0000393

Lop ear
tree view: Abnormality of the pinna
IAO_0000115: Anterior and inferior folding of the upper portion of the ear that obliterates triangular fossa and scapha.
has db xref: SNOMEDCT_US:76223006
has db xref: UMLS:C0266614
has OBO namespace: human_phenotype
id: HP:0000394
in subset: hposlim core
type: Class
comment: The term 'lop ear' refers to excessive protrusion of the ear from the side of the head, that is, the external ear stands away from the head at a greater than normal angle (Normal angle of the auricle to the median plane averages 25 degrees in boys and 18 degrees in girls). Lop ears are usually larger than normal ears. Mild forms are limited to the superior ear, more severe forms affect the superior and posterior ear. The concha may be excessively concave. This should be distinguished from an Overfolded helix where the external contour of the ear is normal.
subclass of: Abnormality of the pinna
notation: HP:0000394

Prominent antihelix
tree view: HP_0009738
IAO_0000115: The presence of an abnormally prominent antihelix.
has db xref: UMLS:C1845272
has OBO namespace: human_phenotype
id: HP:0000395
in subset: hposlim core
type: Class
subclass of: HP_0009738
notation: HP:0000395

Overfolded helix
tree view: HP_0008544
IAO_0000115: A condition in which the helix is folded over to a greater degree than normal. That is, excessive curling of the helix edge, whereby the free edge is parallel to the plane of the ear.
has alternative id: HP:0001758
has alternative id: HP:0008570
has db xref: UMLS:C1837731
has exact synonym: Over-folded helices
has exact synonym: Overfolded ears
has exact synonym: Overfolded helices
has OBO namespace: human_phenotype
id: HP:0000396
in subset: hposlim core
type: Class
comment: This is most often seen in the superior helix where it must be distinguished from a Lop ear (where the usual convexity of the posterior border of the ear is lost). Helix folding is highly variable.
subclass of: HP_0008544
notation: HP:0000396

HP_0000397
IAO_0000231: IAO_0000227
IAO_0100001: Progressive sensorineural hearing impairment
type: Class
deprecated: true
notation: HP:0000397

HP_0000398
IAO_0000231: IAO_0000227
IAO_0100001: Abnormality of the pinna
type: Class
deprecated: true
notation: HP:0000398

Prelingual sensorineural hearing impairment
tree view: HP_0011474
IAO_0000115: A form of sensorineural deafness with either congenital onset or infantile onset, i.e., before the acquisition of speech.
has alternative id: HP:0001731
has db xref: UMLS:C4021806
has exact synonym: Deafness, sensorineural, prelingual
has exact synonym: Prelingual sensorineural deafness
has OBO namespace: human_phenotype
id: HP:0000399
type: Class
subclass of: HP_0011474
notation: HP:0000399

Macrotia
tree view: Abnormality of the pinna
IAO_0000115: Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective).
has alternative id: HP:0000382
has alternative id: HP:0000386
has alternative id: HP:0000401
has alternative id: HP:0001755
has db xref: SNOMEDCT_US:275480001
has db xref: SNOMEDCT_US:69056000
has db xref: UMLS:C0152421
has db xref: UMLS:C0554972
has db xref: UMLS:C1835581
has db xref: UMLS:C1848570
has db xref: UMLS:C1850189
has db xref: UMLS:C1855062
has db xref: UMLS:C1860838
has exact synonym: Large ears
has exact synonym: Large pinnae
has OBO namespace: human_phenotype
id: HP:0000400
in subset: hposlim core
type: Class
comment: This is acknowledged to be a bundled term but retained here because of its usefulness in practice. Ear length is determined by the maximal distance from the superior aspect to the inferior aspect of the external ear. If only length is increased the term Long ear should be used.
subclass of: Abnormality of the pinna
notation: HP:0000400

HP_0000401
IAO_0000231: IAO_0000227
IAO_0100001: Macrotia
type: Class
deprecated: true
notation: HP:0000401

Stenosis of the external auditory canal
tree view: Abnormality of the auditory canal
IAO_0000115: An abnormal narrowing of the external auditory canal.
has alternative id: HP:0000373
has broad synonym: Narrow ear canal
has db xref: SNOMEDCT_US:300127002
has db xref: SNOMEDCT_US:301061006
has db xref: UMLS:C0395837
has db xref: UMLS:C0576860
has exact synonym: External auditory canal stenosis
has exact synonym: Narrow auditory canals
has exact synonym: Narrow external auditory canals
has exact synonym: Narrow external auditory meatus
has exact synonym: Narrowing of passageway from outer ear to middle ear
has exact synonym: Stenotic external auditory canal
has OBO namespace: human_phenotype
id: HP:0000402
in subset: hposlim core
type: Class
subclass of: Abnormality of the auditory canal
notation: HP:0000402

Recurrent otitis media
tree view: Otitis media
tree view: Recurrent infections
IAO_0000115: Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media.
has alternative id: HP:0008622
has alternative id: HP:0008623
has alternative id: HP:0008624
has db xref: UMLS:C0747085
has exact synonym: Frequent otitis media
has exact synonym: Multiple episodes of otitis media
has exact synonym: Otitis media, recurrent
has exact synonym: Recurrent episodes of otitis media
has exact synonym: Recurrent middle ear infection
has exact synonym: Susceptibility to otitis media
has OBO namespace: human_phenotype
id: HP:0000403
type: Class
subclass of: Otitis media
subclass of: Recurrent infections
notation: HP:0000403

HP_0000404
IAO_0000231: IAO_0000227
IAO_0100001: Hearing impairment
type: Class
deprecated: true
notation: HP:0000404

Conductive hearing impairment
tree view: Hearing impairment
tree view: HP_0011452
IAO_0000115: An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound.
has alternative id: HP:0000367
has alternative id: HP:0008581
has db xref: MSH:D006314
has db xref: SNOMEDCT_US:44057004
has db xref: UMLS:C0018777
has exact synonym: Conduction deafness
has exact synonym: Conductive deafness
has exact synonym: Conductive hearing loss
has exact synonym: Hearing loss, conductive
has OBO namespace: human_phenotype
id: HP:0000405
in subset: hposlim core
type: Class
comment: A conductive hearing impariment with greater than 90 dB loss.
subclass of: Hearing impairment
subclass of: HP_0011452
notation: HP:0000405

HP_0000406
IAO_0000231: IAO_0000227
IAO_0100001: Progressive sensorineural hearing impairment
type: Class
deprecated: true
notation: HP:0000406

Sensorineural hearing impairment
tree view: Hearing impairment
tree view: HP_0011389
IAO_0000115: A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
has alternative id: HP:0000374
has alternative id: HP:0001753
has alternative id: HP:0001916
has alternative id: HP:0008538
has alternative id: HP:0008553
has alternative id: HP:0008565
has alternative id: HP:0008576
has alternative id: HP:0008611
has alternative id: HP:0008613
has alternative id: HP:0008614
has db xref: MSH:D006319
has db xref: SNOMEDCT_US:60700002
has db xref: UMLS:C0018784
has exact synonym: Hearing loss, sensorineural
has exact synonym: Sensorineural deafness
has exact synonym: Sensorineural hearing loss
has OBO namespace: human_phenotype
id: HP:0000407
in subset: hposlim core
type: Class
comment: Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII, also known as the cochlear nerve).
subclass of: Hearing impairment
subclass of: HP_0011389
notation: HP:0000407

Progressive sensorineural hearing impairment
tree view: Sensorineural hearing impairment
tree view: Progressive hearing impairment
IAO_0000115: A progressive form of sensorineural hearing impairment.
has alternative id: HP:0000397
has alternative id: HP:0000406
has alternative id: HP:0008592
has alternative id: HP:0008601
has alternative id: HP:0008617
has db xref: UMLS:C1843156
has exact synonym: Bilateral progressive sensorineural hearing loss
has exact synonym: Hearing loss, progressive sensorineural
has exact synonym: Hearing loss, sensorineural, bilateral, progressive
has exact synonym: Hearing loss, sensorineural, progressive
has exact synonym: Progressive bilateral sensorineural hearing loss
has exact synonym: Sensorineural hearing loss, progressive
has OBO namespace: human_phenotype
id: HP:0000408
type: Class
subclass of: Sensorineural hearing impairment
subclass of: Progressive hearing impairment
notation: HP:0000408

HP_0000409
IAO_0000231: IAO_0000227
IAO_0100001: HP_0008551
type: Class
deprecated: true
notation: HP:0000409

Mixed hearing impairment
tree view: Conductive hearing impairment
tree view: Sensorineural hearing impairment
IAO_0000115: A type of hearing loss resulting from a combination of conductive hearing impairment and sensorineural hearing impairment.
has db xref: MSH:D046089
has db xref: SNOMEDCT_US:77507001
has db xref: UMLS:C0155552
has exact synonym: Hearing loss, mixed
has exact synonym: Mixed hearing impairment
has exact synonym: Mixed hearing loss
has OBO namespace: human_phenotype
id: HP:0000410
type: Class
subclass of: Conductive hearing impairment
subclass of: Sensorineural hearing impairment
notation: HP:0000410

Protruding ear
tree view: Abnormality of the pinna
IAO_0000115: Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective).
has alternative id: HP:0000412
has db xref: SNOMEDCT_US:275478007
has db xref: UMLS:C1305420
has db xref: UMLS:C1855285
has exact synonym: Prominent ear
has exact synonym: Prominent ears
has OBO namespace: human_phenotype
has related synonym: Protruding ears
id: HP:0000411
type: Class
subclass of: Abnormality of the pinna
notation: HP:0000411

HP_0000412
IAO_0000231: IAO_0000227
IAO_0100001: Protruding ear
type: Class
deprecated: true
notation: HP:0000412

Atresia of the external auditory canal
tree view: Abnormality of the auditory canal
IAO_0000115: Absence or failure to form of the external auditory canal.
has alternative id: HP:0008547
has alternative id: HP:0008564
has alternative id: HP:0008626
has db xref: UMLS:C1398325
has db xref: UMLS:C1840305
has db xref: UMLS:C1857079
has db xref: UMLS:C1866190
has exact synonym: Absent auditory canals
has exact synonym: Absent ear canal
has exact synonym: Absent external auditory canals
has exact synonym: Atretic auditory canal
has exact synonym: Atretic auditory canals
has exact synonym: Atretic external auditory canal
has exact synonym: Atretic external auditory canals
has exact synonym: Auditory canal atresia
has exact synonym: External acoustic meatus atresia
has exact synonym: External auditory canal atresia
has exact synonym: External auditory meatal atresia
has exact synonym: External auditory meatus atresia
has OBO namespace: human_phenotype
has related synonym: Atresia of the external auditory canals
id: HP:0000413
in subset: hposlim core
type: Class
subclass of: Abnormality of the auditory canal
notation: HP:0000413

Bulbous nose
tree view: Abnormality of the nasal tip
tree view: HP_0005105
IAO_0000115: Increased volume and globular shape of the anteroinferior aspect of the nose.
has alternative id: HP:0000443
has db xref: MSH:C538354
has db xref: UMLS:C0240543
has db xref: UMLS:C1834118
has db xref: UMLS:C1855751
has exact synonym: Bulbous nose
has OBO namespace: human_phenotype
has related synonym: Bulbous nasal tip
has related synonym: Potato nose
id: HP:0000414
type: Class
comment: This is a bundled term, but as it is useful in practice it is kept here. This alteration of size and shape may be limited to the tip, but may involve the lower third of the nose. If only the width of the nasal tip is increased this should be coded as Broad nasal tip.
subclass of: Abnormality of the nasal tip
subclass of: HP_0005105
notation: HP:0000414

Abnormality of the choanae
tree view: Abnormality of the nose
IAO_0000115: Abnormality of the choanae (the posterior nasal apertures).
has db xref: UMLS:C4025855
has OBO namespace: human_phenotype
id: HP:0000415
type: Class
subclass of: Abnormality of the nose
notation: HP:0000415

HP_0000416
IAO_0000231: IAO_0000227
IAO_0100001: Choanal atresia
type: Class
deprecated: true
notation: HP:0000416

Slender nose
tree view: HP_0005105
has db xref: UMLS:C1857645
has exact synonym: Slender nose
has OBO namespace: human_phenotype
id: HP:0000417
type: Class
subclass of: HP_0005105
notation: HP:0000417

Narrow nasal ridge
tree view: HP_0011119
IAO_0000115: Decreased width of the nasal ridge.
has db xref: UMLS:C1837761
has exact synonym: Decreased width of dorsum of nose
has exact synonym: Decreased width of nasal dorsum
has exact synonym: Decreased width of nasal ridge
has exact synonym: Narrow dorsum of nose
has exact synonym: Narrow nasal dorsum
has exact synonym: Narrow nasal ridge
has exact synonym: Pinched nose
has exact synonym: Thin dorsum of nose
has exact synonym: Thin nasal dorsum
has exact synonym: Thin nasal ridge
has OBO namespace: human_phenotype
id: HP:0000418
type: Class
comment: This feature may be accompanied by narrow nasal bridge and narrow nasal base, which should be coded separately.
subclass of: HP_0011119
notation: HP:0000418

Abnormality of the nasal septum
tree view: Abnormality of the nose
IAO_0000115: An abnormality of the nasal septum.
has db xref: SNOMEDCT_US:95433000
has db xref: UMLS:C0151790
has exact synonym: Abnormality of septum of nose
has exact synonym: Abnormality of the nasal septum
has exact synonym: Anomaly of nasal septum
has exact synonym: Anomaly of septum of nose
has OBO namespace: human_phenotype
id: HP:0000419
in subset: hposlim core
type: Class
subclass of: Abnormality of the nose
notation: HP:0000419

Short nasal septum
tree view: Abnormality of the nasal septum
IAO_0000115: Reduced superior to inferior length of the nasal septum.
has db xref: UMLS:C1844857
has exact synonym: Decreased length of nasal septum
has exact synonym: Decreased length of septum of nose
has exact synonym: Short nasal septum
has exact synonym: Short septum of nose
has OBO namespace: human_phenotype
id: HP:0000420
in subset: hposlim core
type: Class
subclass of: Abnormality of the nasal septum
notation: HP:0000420

Epistaxis
tree view: Abnormality of the nose
tree view: Abnormal bleeding
IAO_0000115: Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose.
has db xref: MSH:D004844
has db xref: SNOMEDCT_US:12441001
has db xref: SNOMEDCT_US:249366005
has db xref: UMLS:C0014591
has exact synonym: Bloody nose
has exact synonym: Frequent nosebleeds
has exact synonym: Nose bleeding
has exact synonym: Nosebleed
has OBO namespace: human_phenotype
id: HP:0000421
type: Class
subclass of: Abnormality of the nose
subclass of: Abnormal bleeding
notation: HP:0000421

Abnormality of the nasal bridge
tree view: Abnormality of the nose
IAO_0000115: Abnormality of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose. It lies between the glabella and the inferior boundary of the nasal bone, and extends laterally to the inner canthi.
has alternative id: HP:0000423
has db xref: UMLS:C4021805
has exact synonym: Abnormality of the bridge of the nose
has exact synonym: Abnormality of the nasal bridge
has exact synonym: Abnormality of the nasal root
has narrow synonym: Deformity of the bridge of the nose
has narrow synonym: Deformity of the nasal bridge
has narrow synonym: Malformation of the bridge of the nose
has narrow synonym: Malformation of the nasal bridge
has OBO namespace: human_phenotype
id: HP:0000422
in subset: hposlim core
type: Class
comment: The nasal root is the most depressed, superior part of the nose along the nasal ridge.
subclass of: Abnormality of the nose
notation: HP:0000422

HP_0000423
IAO_0000231: IAO_0000227
IAO_0100001: Abnormality of the nasal bridge
type: Class
deprecated: true
notation: HP:0000423

HP_0000424
IAO_0000231: IAO_0000227
IAO_0100001: Wide nasal bridge
type: Class
deprecated: true
notation: HP:0000424

HP_0000425
IAO_0000231: IAO_0000227
IAO_0100001: HP_0005280
type: Class
deprecated: true
notation: HP:0000425

Prominent nasal bridge
tree view: Abnormality of the nasal bridge
IAO_0000115: Anterior positioning of the nasal root in comparison to the usual positioning for age.
has alternative id: HP:0000432
has alternative id: HP:0000442
has alternative id: HP:0004498
has alternative id: HP:0005287
has db xref: UMLS:C1854113
has db xref: UMLS:C4230640
has exact synonym: Elevated nasal bridge
has exact synonym: High nasal bridge
has exact synonym: Prominent bridge of nose
has exact synonym: Prominent nasal bridge
has exact synonym: Prominent nasal root
has exact synonym: Protruding bridge of nose
has exact synonym: Protruding nasal bridge
has OBO namespace: human_phenotype
has related synonym: Convex bridge of nose
has related synonym: Convex nasal bridge
id: HP:0000426
type: Class
comment: A prominent nasal bridge can occur irrespective of the width of the nasal bridge, and the width should be assessed separately. The nasal bridge becomes more prominent with age. Although the nasal root may be anteriorly placed without increasing the space between the eyes, prominence of the nasal bridge may be accompanied by Telecanthus or ocular Hypertelorism. If such findings are present these should be coded separately. Deep-set eyes may lead to the impression of a prominent nasal bridge, but this finding should be coded separately.
subclass of: Abnormality of the nasal bridge
notation: HP:0000426

HP_0000427
IAO_0000231: IAO_0000227
IAO_0100001: Anteverted nares
type: Class
deprecated: true
notation: HP:0000427

HP_0000428
IAO_0000231: IAO_0000227
IAO_0100001: HP_0005280
type: Class
deprecated: true
notation: HP:0000428

Abnormality of the nasal alae
tree view: HP_0010938
IAO_0000115: An abnormality of the Ala of nose.
has db xref: UMLS:C2227020
has db xref: UMLS:C4021804
has db xref: UMLS:C4280631
has db xref: UMLS:C4280632
has exact synonym: Abnormality of the nasal ala
has narrow synonym: Abnormality of the nasal alar cartilage
has narrow synonym: Deformity of the nasal ala
has narrow synonym: Deformity of the nasal alar cartilage
has narrow synonym: Malformation of the nasal ala
has narrow synonym: Malformation of the nasal alar cartilage
has OBO namespace: human_phenotype
id: HP:0000429
in subset: hposlim core
type: Class
comment: The nasal ala is the tissue comprising the lateral boundary of the nose, inferiorly, surrounding the naris.
subclass of: HP_0010938
notation: HP:0000429

Underdeveloped nasal alae
tree view: Abnormality of the nasal alae
tree view: HP_0009924
IAO_0000115: Thinned, deficient, or excessively arched ala nasi.
has alternative id: HP:0004497
has alternative id: HP:0004507
has alternative id: HP:0005276
has alternative id: HP:0005277
has alternative id: HP:0005286
has db xref: UMLS:C1834055
has exact synonym: Ala nasi, underdeveloped
has exact synonym: Alar cartilage hypoplasia
has exact synonym: Decreased size of nasal alae
has exact synonym: Hypoplastic alae nasae
has exact synonym: Hypoplastic alae nasi
has exact synonym: Hypoplastic alar cartilage
has exact synonym: Hypoplastic alar nasae
has exact synonym: Hypoplastic nares
has exact synonym: Hypoplastic nasal alae
has exact synonym: Hypoplastic nasal wings
has exact synonym: Hypoplastic nostrils
has exact synonym: Nasal cartilage hypoplasia
has exact synonym: Small nasal alae
has exact synonym: Thin hypoplastic alae nasi
has exact synonym: Underdeveloped tissue around nostril
has OBO namespace: human_phenotype
id: HP:0000430
in subset: hposlim core
type: Class
comment: The alae nasi are the lateral portions of the nose or the wings of the nostrils, which partly encircle the nostrils (nares). They are usually about the width of the columella, but vary greatly depending on the shape of the nostril. Note that individuals may be described as having a Cleft ala nasi, but have a severely underdeveloped ala nasi. In an underdeveloped ala the continuity of the tissue encircling the nostril is undisturbed while in a cleft it is disrupted. With severe hypoplasia of the nasal alae, the nasal tip may appear depressed.
subclass of: Abnormality of the nasal alae
subclass of: HP_0009924
notation: HP:0000430

Wide nasal bridge
tree view: Abnormality of the nasal bridge
IAO_0000115: Increased breadth of the nasal bridge (and with it, the nasal root).
has alternative id: HP:0000424
has alternative id: HP:0004500
has alternative id: HP:0004504
has alternative id: HP:0004650
has alternative id: HP:0200139
has db xref: SNOMEDCT_US:249321001
has db xref: UMLS:C1839764
has db xref: UMLS:C1849367
has exact synonym: Broad nasal bridge
has exact synonym: Broad nasal root
has exact synonym: Broadened nasal bridge
has exact synonym: Increased breadth of bridge of nose
has exact synonym: Increased breadth of nasal bridge
has exact synonym: Increased width of bridge of nose
has exact synonym: Increased width of nasal bridge
has exact synonym: Nasal bridge broad
has exact synonym: Nasal bridge, wide
has exact synonym: Wide bridge of nose
has exact synonym: Wide nasal bridge
has exact synonym: Widened nasal bridge
has OBO namespace: human_phenotype
has related synonym: Broad flat nasal bridge
id: HP:0000431
type: Class
comment: Care should be taken to distinguish between increased width of bone and Fullness of paranasal tissue. A wide nasal bridge should be distinguished from Telecanthus and Hypertelorism. A wide nasal bridge can be either prominent or depressed, which should be coded separately.
subclass of: Abnormality of the nasal bridge
notation: HP:0000431

HP_0000432
IAO_0000231: IAO_0000227
IAO_0100001: Prominent nasal bridge
type: Class
deprecated: true
notation: HP:0000432

Abnormality of the nasal mucosa
tree view: Abnormality of the nose
has db xref: UMLS:C4025854
has exact synonym: Abnormality of mucosa of nose
has exact synonym: Abnormality of mucous membrane of nose
has exact synonym: Abnormality of nasal mucous membrane
has exact synonym: Abnormality of the nasal mucosa
has OBO namespace: human_phenotype
id: HP:0000433
type: Class
subclass of: Abnormality of the nose
notation: HP:0000433

Nasal mucosa telangiectasia
tree view: Abnormality of the nasal mucosa
tree view: HP_0100579
IAO_0000115: Telangiectasia of the nasal mucosa.
has db xref: UMLS:C4025853
has exact synonym: Angioectasia of mucosa of nose
has exact synonym: Angioectasia of mucous membrane of nose
has exact synonym: Angioectasia of nasal mucous membrane
has exact synonym: Nasal mucous membrane telangiectasia
has exact synonym: Spider veins of mucosa of nose
has exact synonym: Spider veins of mucous membrane of nose
has exact synonym: Spider veins of nasal mucous membrane
has exact synonym: Telangiectasia of mucosa of nose
has exact synonym: Telangiectasia of mucous membrane of nose
has exact synonym: Telangiectasia of nasal mucous membrane
has OBO namespace: human_phenotype
id: HP:0000434
type: Class
subclass of: Abnormality of the nasal mucosa
subclass of: HP_0100579
notation: HP:0000434

HP_0000435
IAO_0000231: IAO_0000227
IAO_0100001: Anteverted nares
type: Class
deprecated: true
notation: HP:0000435

Abnormality of the nasal tip
tree view: HP_0010938
IAO_0000115: An abnormality of the nasal tip.
has db xref: UMLS:C4025852
has exact synonym: Abnormality of the nasal tip
has exact synonym: Abnormality of tip of nose
has narrow synonym: Deformity of the nasal tip
has narrow synonym: Deformity of tip of nose
has narrow synonym: Malformation of the nasal tip
has narrow synonym: Malformation of tip of nose
has OBO namespace: human_phenotype
id: HP:0000436
in subset: hposlim core
type: Class
comment: The nasal tip is located at the junction of the inferior margin of the nasal ridge and the columella. Commonly, it is the part of the nose furthest from the plane of the face. In rare circumstances, such as markedly prominent and convex nasal profiles, other parts of the ridge may be further removed from the facial plane.
subclass of: HP_0010938
notation: HP:0000436

Depressed nasal tip
tree view: Abnormality of the nasal tip
IAO_0000115: Decreased distance from the nasal tip to the nasal base.
has alternative id: HP:0005279
has db xref: UMLS:C1859717
has exact synonym: Caved in nasal tip
has exact synonym: Depressed nasal tip
has exact synonym: Depressed tip of nose
has exact synonym: Flat nasal tip
has exact synonym: Flat tip of nose
has exact synonym: Flattened nasal tip
has exact synonym: Nasal tip, depressed
has exact synonym: Nasal tip, recessed
has exact synonym: Nasal tip, retruded
has exact synonym: Retruded tip of nose
has OBO namespace: human_phenotype
id: HP:0000437
in subset: hposlim core
type: Class
comment: This often accompanies a Short columella, Overhanging nasal tip, and Underdeveloped nasal tip, but these should be assessed and coded separately.
subclass of: Abnormality of the nasal tip
notation: HP:0000437

HP_0000438
IAO_0000231: IAO_0000227
IAO_0100001: Wide nose
type: Class
deprecated: true
notation: HP:0000438

HP_0000439
IAO_0000231: IAO_0000227
IAO_0100001: HP_0005280
type: Class
deprecated: true
notation: HP:0000439

HP_0000440
IAO_0000231: IAO_0000227
IAO_0100001: Short nose
type: Class
deprecated: true
notation: HP:0000440

HP_0000441
IAO_0000231: IAO_0000227
IAO_0100001: Anteverted nares
type: Class
deprecated: true
notation: HP:0000441

HP_0000442
IAO_0000231: IAO_0000227
IAO_0100001: Prominent nasal bridge
type: Class
deprecated: true
notation: HP:0000442

HP_0000443
IAO_0000231: IAO_0000227
IAO_0100001: Bulbous nose
type: Class
deprecated: true
notation: HP:0000443

Convex nasal ridge
tree view: HP_0011119
IAO_0000115: Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip. The nose appears often also prominent, and the columella low.
has db xref: UMLS:C0240538
has exact synonym: Beaked nose
has exact synonym: Beaklike protrusion
has exact synonym: Convex dorsum of nose
has exact synonym: Convex nasal dorsum
has exact synonym: Hooked nose
has exact synonym: Polly beak nasal deformity
has OBO namespace: human_phenotype
id: HP:0000444
in subset: hposlim core
type: Class
subclass of: HP_0011119
notation: HP:0000444

Wide nose
tree view: HP_0005105
IAO_0000115: Interalar distance more than two standard deviations above the mean for age, i.e., an apparently increased width of the nasal base and alae.
has alternative id: HP:0000438
has db xref: SNOMEDCT_US:249321001
has db xref: UMLS:C0426421
has exact synonym: Broad nose
has exact synonym: Increased breadth of nose
has exact synonym: Increased nasal breadth
has exact synonym: Increased nasal width
has exact synonym: Increased width of nose
has exact synonym: Wide nose
has OBO namespace: human_phenotype
id: HP:0000445
in subset: hposlim core
type: Class
subclass of: HP_0005105
notation: HP:0000445

Narrow nasal bridge
tree view: Abnormality of the nasal bridge
IAO_0000115: Decreased width of the bony bridge of the nose.
has alternative id: HP:0100782
has db xref: SNOMEDCT_US:249322008
has db xref: UMLS:C0426422
has db xref: UMLS:C4020891
has db xref: UMLS:C4280630
has exact synonym: Narrow bridge of nose
has exact synonym: Narrow nasal bridge
has exact synonym: Narrow nasal root
has exact synonym: Nasal Bridge, Narrow
has exact synonym: Nasal bridge, thin
has OBO namespace: human_phenotype
has related synonym: Pinched bridge of nose
has related synonym: Pinched nasal bridge
id: HP:0000446
in subset: hposlim core
type: Class
comment: The narrowness may be accompanied by a sharp, keel-shaped appearance. The nasal bridge may narrow with age.
subclass of: Abnormality of the nasal bridge
notation: HP:0000446

Pear-shaped nose
tree view: HP_0005105
has db xref: UMLS:C1853482
has exact synonym: Pear-shaped nose
has OBO namespace: human_phenotype
id: HP:0000447
type: Class
subclass of: HP_0005105
notation: HP:0000447

Prominent nose
tree view: HP_0005105
IAO_0000115: Distance between subnasale and pronasale more than two standard deviations above the mean, or alternatively, an apparently increased anterior protrusion of the nasal tip.
has alternative id: HP:0000461
has alternative id: HP:0005271
has alternative id: HP:0200140
has db xref: SNOMEDCT_US:249311009
has db xref: UMLS:C0426415
has db xref: UMLS:C1400105
has db xref: UMLS:C4280629
has exact synonym: Big nose
has exact synonym: Disproportionately large nose
has exact synonym: Increased nasal size
has exact synonym: Increased size of nose
has exact synonym: Large nose
has exact synonym: Prominent nose
has exact synonym: Pronounced nose
has OBO namespace: human_phenotype
has related synonym: Hyperplasia of nose
has related synonym: Hypertrophy of nose
has related synonym: Nasal hyperplasia
has related synonym: Nasal hypertrophy
id: HP:0000448
in subset: hposlim core
type: Class
subclass of: HP_0005105
notation: HP:0000448

HP_0000449
IAO_0000231: IAO_0000227
IAO_0100001: Short nose
type: Class
deprecated: true
notation: HP:0000449

HP_0000450
IAO_0000231: IAO_0000227
IAO_0100001: Short nose
type: Class
deprecated: true
notation: HP:0000450

Triangular nasal tip
tree view: Abnormality of the nasal tip
has db xref: UMLS:C1839765
has exact synonym: Triangular nasal tip
has exact synonym: Triangular shaped tip of nose
has OBO namespace: human_phenotype
id: HP:0000451
type: Class
subclass of: Abnormality of the nasal tip
notation: HP:0000451

Choanal stenosis
tree view: Abnormality of the choanae
IAO_0000115: Abnormal narrowing of the choana (the posterior nasal aperture).
has db xref: SNOMEDCT_US:306963008
has db xref: UMLS:C0584837
has exact synonym: Coanal stenosis
has exact synonym: Narrowing of the rear opening of the nasal cavity
has OBO namespace: human_phenotype
id: HP:0000452
in subset: hposlim core
type: Class
subclass of: Abnormality of the choanae
notation: HP:0000452

Choanal atresia
tree view: Abnormality of the choanae
IAO_0000115: Absence or abnormal closure of the choana (the posterior nasal aperture).
has alternative id: HP:0000416
has alternative id: HP:0004503
has db xref: Fyler:4203
has db xref: MSH:D002754
has db xref: SNOMEDCT_US:204508009
has db xref: UMLS:C0008297
has exact synonym: Blockage of the rear opening of the nasal cavity
has exact synonym: Obstruction of the rear opening of the nasal cavity
has OBO namespace: human_phenotype
id: HP:0000453
in subset: hposlim core
type: Class
subclass of: Abnormality of the choanae
notation: HP:0000453

Flared nostrils
tree view: Abnormality of the nasal alae
has db xref: SNOMEDCT_US:21558008
has db xref: SNOMEDCT_US:248568003
has db xref: UMLS:C0277873
has exact synonym: Flared nasal alae
has exact synonym: Flared nostrils
has OBO namespace: human_phenotype
id: HP:0000454
type: Class
subclass of: Abnormality of the nasal alae
notation: HP:0000454

Broad nasal tip
tree view: Abnormality of the nasal tip
tree view: Anteverted nares
IAO_0000115: Increase in width of the nasal tip.
has alternative id: HP:0004501
has alternative id: HP:0005269
has db xref: SNOMEDCT_US:249327002
has db xref: UMLS:C0426429
has exact synonym: Broad nasal tip
has exact synonym: Broad tip of nose
has exact synonym: Broad, upturned nose
has exact synonym: Increased breadth of nasal tip
has exact synonym: Increased breadth of tip of nose
has exact synonym: Increased width of nasal tip
has exact synonym: Increased width of tip of nose
has exact synonym: Nasal tip, broad
has exact synonym: Nasal tip, wide
has exact synonym: Wide tip of nose
has OBO namespace: human_phenotype
has related synonym: Broad upturned nose
id: HP:0000455
type: Class
comment: Nasal tip width is assessed at the anterior junction of the alae and the tip. This is easier in persons with a somewhat squared shape of the nasal tip. This may be best viewed from the inferior aspect of the nose. No objective measures are available. See Bulbous nose for a related term.
subclass of: Abnormality of the nasal tip
subclass of: Anteverted nares
notation: HP:0000455

Bifid nasal tip
tree view: Abnormality of the nasal tip
IAO_0000115: A splitting of the nasal tip. Visually assessable vertical indentation, cleft, or depression of the nasal tip.
has alternative id: HP:0005282
has db xref: SNOMEDCT_US:249326006
has db xref: UMLS:C0426428
has db xref: UMLS:C4020890
has exact synonym: Bifid tip of nose
has exact synonym: Cleft nasal tip
has OBO namespace: human_phenotype
has related synonym: Cleft tip of nose
has related synonym: Notched nasal tip
has related synonym: Notched tip of nose
id: HP:0000456
type: Class
comment: This is a rare congenital deformity due to failure of the paired nasal processes to fuse to a single midline organ during early gestation.
subclass of: Abnormality of the nasal tip
notation: HP:0000456

Depressed nasal ridge
tree view: HP_0011119
IAO_0000115: Lack of prominence of the nose resulting from a posteriorly-placed nasal ridge.
has db xref: UMLS:C1842876
has exact synonym: Depressed dorsum of nose
has exact synonym: Depressed nasal dorsum
has exact synonym: Flat dorsum of nose
has exact synonym: Flat nasal dorsum
has exact synonym: Flat nose
has exact synonym: Recessed dorsum of nose
has exact synonym: Recessed nasal dorsum
has exact synonym: Recessed nasal ridge
has exact synonym: Retruded dorsum of nose
has exact synonym: Retruded nasal dorsum
has exact synonym: Retruded nasal ridge
has OBO namespace: human_phenotype
id: HP:0000457
in subset: hposlim core
type: Class
comment: The adjective 'depressed' here does not indicate an active process but a status. The feature should be assessed in a profile view. This finding is typically associated with a Short columella, but this should be assessed separately.
subclass of: HP_0011119
notation: HP:0000457

Anosmia
tree view: Abnormality of the sense of smell
IAO_0000115: An inability to perceive odors. This is a general term describing inability to smell arising in any part of the process of smelling from absorption of odorants into the nasal mucous overlying the olfactory epithelium, diffusion to the cilia, binding to olfactory receptor sites, generation of action potentials in olfactory neurons, and perception of a smell.
has db xref: MSH:D000857
has db xref: SNOMEDCT_US:44169009
has db xref: UMLS:C0003126
has exact synonym: Lost smell
has OBO namespace: human_phenotype
id: HP:0000458
in subset: hposlim core
type: Class
subclass of: Abnormality of the sense of smell
notation: HP:0000458

HP_0000459
IAO_0000231: IAO_0000227
IAO_0100001: HP_0005280
type: Class
deprecated: true
notation: HP:0000459

Narrow nose
tree view: HP_0005105
IAO_0000115: Interalar distance more than 2 SD below the mean for age, or alternatively, an apparently decreased width of the nasal base and alae.
has db xref: SNOMEDCT_US:249322008
has db xref: UMLS:C0426422
has exact synonym: Decreased nasal breadth
has exact synonym: Decreased nasal width
has exact synonym: Narrow nose
has exact synonym: Thin nose
has OBO namespace: human_phenotype
id: HP:0000460
type: Class
comment: Note: a small nose has both decreased height and a decreased width. These should be coded separately.
subclass of: HP_0005105
notation: HP:0000460

HP_0000461
IAO_0000231: IAO_0000227
IAO_0100001: Prominent nose
type: Class
deprecated: true
notation: HP:0000461

HP_0000462
IAO_0000231: IAO_0000227
IAO_0100001: HP_0100582
type: Class
deprecated: true
notation: HP:0000462

Anteverted nares
tree view: Abnormality of the nasal alae
tree view: HP_0005105
tree view: HP_0005288
IAO_0000115: Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip).
has alternative id: HP:0000427
has alternative id: HP:0000435
has alternative id: HP:0000441
has db xref: SNOMEDCT_US:708670007
has db xref: UMLS:C1840077
has exact synonym: Anteverted nose
has exact synonym: Anteverted nostrils
has exact synonym: Nasal tip, upturned
has exact synonym: Nostrils anteverted
has exact synonym: Upturned nares
has exact synonym: Upturned nasal tip
has exact synonym: Upturned nose
has exact synonym: Upturned nostrils
has OBO namespace: human_phenotype
has related synonym: Upturned nasal tips
id: HP:0000463
type: Class
comment: The tip of the nose is upturned and is positioned superiorly to the nasal base, allowing the nares to be easily visualized from the front. With maturation and growth of the nasal ridge and tip, the nares usually become more downwardly directed.
subclass of: Abnormality of the nasal alae
subclass of: HP_0005105
subclass of: HP_0005288
notation: HP:0000463

Abnormality of the neck
tree view: Abnormality of head or neck
IAO_0000115: An abnormality of the neck.
has db xref: SNOMEDCT_US:298390003
has db xref: SNOMEDCT_US:40052002
has db xref: UMLS:C0266623
has db xref: UMLS:C0575167
has db xref: UMLS:C4280628
has exact synonym: Abnormality of the neck
has exact synonym: Anomaly of the neck
has narrow synonym: Deformity of the neck
has narrow synonym: Malformation of the neck
has OBO namespace: human_phenotype
id: HP:0000464
in subset: hposlim core
type: Class
subclass of: Abnormality of head or neck
notation: HP:0000464

Webbed neck
tree view: Abnormality of the neck
IAO_0000115: Pterygium colli is a congenital skin fold that runs along the sides of the neck down to the shoulders. It involves an ectopic fibrotic facial band superficial to the trapezius muscle. Excess hair-bearing skin is also present and extends down the cervical region well beyond the normal hairline.
has db xref: SNOMEDCT_US:11731003
has db xref: UMLS:C0221217
has exact synonym: Neck webbing
has exact synonym: Pterygium colli
has exact synonym: Webbed neck
has OBO namespace: human_phenotype
id: HP:0000465
in subset: hposlim core
type: Class
subclass of: Abnormality of the neck
notation: HP:0000465

Limited neck range of motion
tree view: HP_0005986
has db xref: UMLS:C1859212
has exact synonym: Limited cervical range of motion
has exact synonym: Limited neck range of motion
has OBO namespace: human_phenotype
id: HP:0000466
type: Class
subclass of: HP_0005986
notation: HP:0000466

Neck muscle weakness
tree view: Muscle weakness
tree view: HP_0011006
IAO_0000115: Decreased strength of the neck musculature.
has db xref: UMLS:C0240479
has exact synonym: Floppy neck
has exact synonym: Neck muscle weakness
has narrow synonym: Flaccid neck
has OBO namespace: human_phenotype
id: HP:0000467
type: Class
subclass of: Muscle weakness
subclass of: HP_0011006
notation: HP:0000467

Increased adipose tissue around the neck
tree view: Abnormality of the neck
tree view: HP_0009126
IAO_0000115: An increased amount of subcutaneous fat tissue around the neck.
has db xref: UMLS:C4025850
has exact synonym: Increased fat around the neck
has OBO namespace: human_phenotype
id: HP:0000468
type: Class
subclass of: Abnormality of the neck
subclass of: HP_0009126
notation: HP:0000468

HP_0000469
IAO_0000231: IAO_0000227
IAO_0100001: Neck flexor weakness
type: Class
deprecated: true
notation: HP:0000469

Short neck
tree view: Abnormality of the neck
tree view: Abnormality of the cervical spine
IAO_0000115: Diminished length of the neck.
has alternative id: HP:0005992
has alternative id: HP:0200137
has db xref: SNOMEDCT_US:95427009
has db xref: UMLS:C0521525
has exact synonym: Cervical shortening
has exact synonym: Decreased cervical height
has exact synonym: Decreased cervical length
has exact synonym: Decreased length of neck
has exact synonym: Short neck
has OBO namespace: human_phenotype
id: HP:0000470
in subset: hposlim core
type: Class
subclass of: Abnormality of the neck
subclass of: Abnormality of the cervical spine
notation: HP:0000470

Gastrointestinal angiodysplasia
tree view: Abnormality of gastrointestinal vasculature
IAO_0000115: Dysplasia affecting the vasculature of the gastrointestinal tract.
has db xref: UMLS:C0854242
has exact synonym: GI angiodysplasia
has OBO namespace: human_phenotype
id: HP:0000471
type: Class
subclass of: Abnormality of gastrointestinal vasculature
notation: HP:0000471

Long neck
tree view: Abnormality of the neck
IAO_0000115: Increased inferior-superior length of the neck.
has db xref: UMLS:C1839816
has exact synonym: Cervical elongation
has exact synonym: Elongated neck
has exact synonym: Increased cervical length
has exact synonym: Increased length of neck
has exact synonym: Long neck
has OBO namespace: human_phenotype
id: HP:0000472
in subset: hposlim core
type: Class
subclass of: Abnormality of the neck
notation: HP:0000472

Torticollis
tree view: HP_0011006
tree view: HP_0011442
tree view: HP_0012179
IAO_0000115: Involuntary contractions of the neck musculature resulting in an abnormal posture of or abnormal movements of the head.
has db xref: MSH:D014103
has db xref: SNOMEDCT_US:270476009
has db xref: SNOMEDCT_US:70070008
has db xref: SNOMEDCT_US:74333002
has db xref: UMLS:C0040485
has db xref: UMLS:C0152116
has db xref: UMLS:C0949445
has exact synonym: Cervical dystonia
has exact synonym: Loxia
has exact synonym: Spasmodic torticollis
has exact synonym: Wry neck
has OBO namespace: human_phenotype
id: HP:0000473
type: Class
comment: The word torticollis comes from Latin words meaning twisted neck. Spasmodic torticollis is a focal dystonia that affects the neck and sometimes the shoulders, leading to involuntary contractions of the neck muscles, abnormal movements and postures of the head and neck. The abnormal movements can have both tonic and clonic components and can results in pain and discomfort. Spasmodic torticollis is the most common focal dystonia.
subclass of: HP_0011006
subclass of: HP_0011442
subclass of: HP_0012179
notation: HP:0000473

Thickened nuchal skin fold
tree view: Abnormality of the neck
tree view: HP_0011425
IAO_0000115: A thickening of the skin thickness in the posterior aspect of the fetal neck. A nuchal fold measurement is obtained in a transverse section of the fetal head at the level of the cavum septum pellucidum and thalami, angled posteriorly to include the cerebellum. The measurement is taken from the outer edge of the occiput bone to the outer skin limit directly in the midline. A measurement 6 mm or more is considered significant between 18 and 24 weeks and a measurement of 5 mm or more is considered significant at 16 to 18 weeks (pmid:16100637).
has alternative id: HP:0000477
has db xref: UMLS:C1836940
has exact synonym: Excess nuchal skin
has exact synonym: Thickened nuchal skin
has exact synonym: Thickened skin folds of neck
has exact synonym: Thickened skin over the neck
has OBO namespace: human_phenotype
id: HP:0000474
in subset: hposlim core
type: Class
comment: A thickened nuchal fold should be distinguished from cystic hygroma, in which the skin in this area has fluid-filled loculations. A thickened nuchal fold should not be confused with nuchal translucency, which is a specific measurement of fluid in the posterior aspect of the neck at 11 to 14 weeks gestation (see practice guidelines at http://www.sogc.org).
subclass of: Abnormality of the neck
subclass of: HP_0011425
notation: HP:0000474

Broad neck
tree view: Abnormality of the neck
IAO_0000115: Increased side-to-side width of the neck.
has db xref: UMLS:C1853638
has exact synonym: Broad neck
has exact synonym: Increased width of neck
has exact synonym: Wide neck
has OBO namespace: human_phenotype
has related synonym: Thick neck
id: HP:0000475
in subset: hposlim core
type: Class
subclass of: Abnormality of the neck
notation: HP:0000475

Cystic hygroma
tree view: Abnormality of the neck
IAO_0000115: A cystic lymphatic lesion of the neck.
has db xref: MSH:D018191
has db xref: NCIT:C8965
has db xref: SNOMEDCT_US:399882002
has db xref: SNOMEDCT_US:40225001
has db xref: SNOMEDCT_US:423984004
has db xref: UMLS:C0206620
has exact synonym: Cystic hygroma of the neck
has OBO namespace: human_phenotype
id: HP:0000476
type: Class
comment: Cystic hygroma refers to a cystic lymphatic lesion, that can in principle occur anywhere in the body, but is most commonly seen in the head and neck region. The term 'Cystic hygroma' alone is generally used to refer to cystic hygroma of the neck.
subclass of: Abnormality of the neck
notation: HP:0000476

HP_0000477
IAO_0000231: IAO_0000227
IAO_0100001: Thickened nuchal skin fold
type: Class
deprecated: true
notation: HP:0000477

Abnormality of the eye
tree view: Phenotypic abnormality
IAO_0000115: Any abnormality of the eye, including location, spacing, and intraocular abnormalities.
has db xref: MSH:D005124
has db xref: MSH:D005128
has db xref: SNOMEDCT_US:19416009
has db xref: SNOMEDCT_US:371405004
has db xref: SNOMEDCT_US:371409005
has db xref: UMLS:C0015393
has db xref: UMLS:C0015397
has exact synonym: Abnormal eye
has exact synonym: Abnormality of the eye
has OBO namespace: human_phenotype
has related synonym: Eye disease
id: HP:0000478
in subset: hposlim core
type: Class
subclass of: Phenotypic abnormality
notation: HP:0000478

Abnormal retinal morphology
tree view: Abnormal fundus morphology
IAO_0000115: A structural abnormality of the retina.
has alternative id: HP:0007938
has db xref: MSH:D012164
has db xref: SNOMEDCT_US:29555009
has db xref: UMLS:C0035300
has db xref: UMLS:C0035309
has exact synonym: Abnormal retina
has exact synonym: Abnormality of the retina
has exact synonym: Anomaly of the retina
has exact synonym: Retina issue
has OBO namespace: human_phenotype
has related synonym: Retinal disease
id: HP:0000479
in subset: hposlim core
type: Class
subclass of: Abnormal fundus morphology
notation: HP:0000479

Retinal coloboma
tree view: Abnormal retinal morphology
tree view: Coloboma
IAO_0000115: A notch or cleft of the retina.
has alternative id: HP:0007808
has db xref: SNOMEDCT_US:39302008
has db xref: UMLS:C0240896
has exact synonym: Hole in the back of the eye
has OBO namespace: human_phenotype
id: HP:0000480
in subset: hposlim core
type: Class
subclass of: Abnormal retinal morphology
subclass of: Coloboma
notation: HP:0000480

Abnormal cornea morphology
tree view: Abnormal anterior eye segment morphology
IAO_0000115: Any abnormality of the cornea, which is the transparent tissue at the front of the eye that covers the iris, pupil, and anterior chamber.
has alternative id: HP:0007771
has alternative id: HP:0007972
has db xref: UMLS:C1855670
has db xref: UMLS:C4020889
has exact synonym: Abnormality of the cornea
has exact synonym: Corneal abnormalities
has exact synonym: Corneal abnormality
has OBO namespace: human_phenotype
has related synonym: Cornela disease
id: HP:0000481
in subset: hposlim core
type: Class
subclass of: Abnormal anterior eye segment morphology
notation: HP:0000481

Microcornea
tree view: Abnormality of corneal size
IAO_0000115: A congenital abnormality of the cornea in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood.
has alternative id: HP:0100688
has db xref: SNOMEDCT_US:26098002
has db xref: UMLS:C0266544
has db xref: UMLS:C1167713
has exact synonym: Cornea of eye less than 10mm in diameter
has exact synonym: Decreased corneal diameter
has OBO namespace: human_phenotype
id: HP:0000482
in subset: hposlim core
type: Class
comment: Note that the cornea's diameter is normally about 9.5-10.0 mm at birth and reaches 10.0-12-5 mm in adulthood.
subclass of: Abnormality of corneal size
notation: HP:0000482

Astigmatism
tree view: Abnormality of refraction
tree view: HP_0100691
IAO_0000115: A type of astigmatism associated with abnormal curvatures on the anterior and/or posterior surface of the cornea.
has db xref: MSH:D001251
has db xref: SNOMEDCT_US:82649003
has db xref: UMLS:C0004106
has exact synonym: Abnormal curving of the cornea or lens of the eye
has OBO namespace: human_phenotype
id: HP:0000483
in subset: hposlim core
type: Class
comment: The irregular curvature associated with astigmatism means that the optical system is not symmetric about the optical axis. Most commonly the cornea is affected such that the refractive power in one meridian is less than that of the perpendicular axis. Astigmatism of significant degree causes blurry vision.
subclass of: Abnormality of refraction
subclass of: HP_0100691
notation: HP:0000483

Hyperopic astigmatism
tree view: Astigmatism
IAO_0000115: A form of astigmatism in which one meridian is hyperopic while the one at a right angle to it has no refractive error.
has db xref: SNOMEDCT_US:449734001
has db xref: UMLS:C1847524
has OBO namespace: human_phenotype
id: HP:0000484
type: Class
subclass of: Astigmatism
notation: HP:0000484

Megalocornea
tree view: Abnormality of corneal size
IAO_0000115: An enlargement of the cornea with normal clarity and function. Megalocornea is diagnosed with a horizontal corneal diameter of 12 mm or more at birth or 13 mm or more after two years of age.
has alternative id: HP:0007660
has db xref: MSH:C562829
has db xref: SNOMEDCT_US:204118005
has db xref: SNOMEDCT_US:268158009
has db xref: UMLS:C0344530
has db xref: UMLS:C1167712
has exact synonym: Anterior megalophthalmos
has exact synonym: Enlarged cornea
has exact synonym: Increased corneal diameter
has exact synonym: Macrocornea
has OBO namespace: human_phenotype
id: HP:0000485
in subset: hposlim core
type: Class
subclass of: Abnormality of corneal size
notation: HP:0000485

Strabismus
tree view: Abnormal conjugate eye movement
IAO_0000115: A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.
has alternative id: HP:0000487
has db xref: MSH:D013285
has db xref: SNOMEDCT_US:128602000
has db xref: SNOMEDCT_US:22066006
has db xref: UMLS:C0038379
has exact synonym: Cross-eyed
has exact synonym: Squint
has exact synonym: Squint eyes
has OBO namespace: human_phenotype
id: HP:0000486
in subset: hposlim core
type: Class
subclass of: Abnormal conjugate eye movement
notation: HP:0000486

obsolete Congenital strabismus
IAO_0000231: IAO_0000227
IAO_0100001: Strabismus
IAO_0100001: HP:0000486
has OBO namespace: human_phenotype
id: HP:0000487
type: Class
deprecated: true
notation: HP:0000487

Retinopathy
tree view: Abnormal retinal morphology
IAO_0000115: Any noninflammatory disease of the retina. This nonspecific term is retained here because of its wide use in the literature, but if possible new annotations should indicate the precise type of retinal abnormality.
has db xref: MSH:D012164
has db xref: SNOMEDCT_US:29555009
has db xref: UMLS:C0035309
has exact synonym: Noninflammatory retina disease
has OBO namespace: human_phenotype
id: HP:0000488
in subset: hposlim core
type: Class
subclass of: Abnormal retinal morphology
notation: HP:0000488

obsolete Abnormality of globe location or size
IAO_0000231: IAO_0000227
IAO_0100001: HP_0012372
consider: HP:0100886
consider: HP:0100887
has OBO namespace: human_phenotype
id: HP:0000489
type: Class
deprecated: true
notation: HP:0000489

Deeply set eye
tree view: HP_0100886
IAO_0000115: An eye that is more deeply recessed into the plane of the face than is typical.
has alternative id: HP:0000663
has db xref: MSH:D015841
has db xref: SNOMEDCT_US:246923005
has db xref: SNOMEDCT_US:80093006
has db xref: UMLS:C0014306
has db xref: UMLS:C0423224
has exact synonym: Deep set eye
has exact synonym: Deep-set eyes
has exact synonym: Deeply set eye
has exact synonym: Enophthalmos
has exact synonym: Ocular depression
has exact synonym: Sunken eye
has exact synonym: Sunken eyes
has OBO namespace: human_phenotype
id: HP:0000490
in subset: hposlim core
type: Class
comment: This finding should be distinguished from a prominent supraorbital ridge or inferior orbital margin. In Deeply set eyes, the globe is recessed in comparison to the overall prominence of the face. There is no known objective measurement, and diagnosing this feature depends heavily on the experience of the observer.
subclass of: HP_0100886
notation: HP:0000490

Keratitis
tree view: HP_0011495
tree view: HP_0100533
IAO_0000115: Inflammation of the cornea.
has db xref: MSH:D007634
has db xref: SNOMEDCT_US:5888003
has db xref: UMLS:C0022568
has exact synonym: Corneal inflammation
has OBO namespace: human_phenotype
id: HP:0000491
in subset: hposlim core
type: Class
subclass of: HP_0011495
subclass of: HP_0100533
notation: HP:0000491

Abnormal eyelid morphology
tree view: HP_0030669
IAO_0000115: An abnormality of the eyelids.
has alternative id: HP:0000285
has db xref: UMLS:C4021803
has exact synonym: Abnormality of the eyelid
has exact synonym: Abnormality of the eyelids
has OBO namespace: human_phenotype
id: HP:0000492
in subset: hposlim core
type: Class
subclass of: HP_0030669
notation: HP:0000492

Abnormal foveal morphology
tree view: Abnormal macular morphology
IAO_0000115: An abnormality of the fovea centralis, the central area of the macula that mediates central, high resolution vision and contains the largest concentration of cone cells in the retina.
created by: peter
creation date: 2008-04-02T01:29:00Z
has db xref: UMLS:C4025849
has exact synonym: Abnormality of the fovea
has OBO namespace: human_phenotype
id: HP:0000493
type: Class
subclass of: Abnormal macular morphology
notation: HP:0000493

Downslanted palpebral fissures
tree view: HP_0200006
IAO_0000115: The palpebral fissure inclination is more than two standard deviations below the mean.
has alternative id: HP:0007714
has alternative id: HP:0007908
has db xref: SNOMEDCT_US:246800008
has db xref: UMLS:C0423110
has exact synonym: Antimongoloid eye slant
has exact synonym: Antimongoloid slant of palpebral fissures
has exact synonym: Antimongoloid slanted palpebral fissures
has exact synonym: Down slanting palpebral fissures
has exact synonym: Down-slanted palpebral fissures
has exact synonym: Down-slanting palpebral fissure
has exact synonym: Down-slanting palpebral fissures
has exact synonym: Downslanting palpebral fissure
has exact synonym: Downslanting palpebral fissures
has exact synonym: Downward slanted palpebral fissures
has exact synonym: Downward slanting of the opening between the eyelids
has exact synonym: Downward slanting palpebral fissures
has exact synonym: Downward-slanting palpebral fissures
has exact synonym: Palpebral fissures down-slanted
has OBO namespace: human_phenotype
id: HP:0000494
in subset: hposlim core
type: Class
subclass of: HP_0200006
notation: HP:0000494

Recurrent corneal erosions
tree view: HP_0200020
IAO_0000115: The presence of recurrent corneal epithelial erosions. Although most corneal epithelial defects heal quickly, some may show recurrent ulcerations.
has alternative id: HP:0007674
has alternative id: HP:0007749
has db xref: MSH:D003320
has db xref: SNOMEDCT_US:2055003
has db xref: SNOMEDCT_US:91514001
has db xref: UMLS:C0010043
has db xref: UMLS:C0155119
has db xref: UMLS:C4020888
has exact synonym: Corneal erosions, recurrent
has exact synonym: Corneal ulcerations
has exact synonym: Recurrent breakdown of clear protective layer of eye
has exact synonym: Recurrent corneal ulceration
has OBO namespace: human_phenotype
has related synonym: Epithelial corneal erosions
has related synonym: Recurrent corneal ulcerations
id: HP:0000495
type: Class
subclass of: HP_0200020
notation: HP:0000495

Abnormality of eye movement
tree view: HP_0012373
IAO_0000115: An abnormality in voluntary or involuntary eye movements or their control.
has alternative id: HP:0006860
has db xref: SNOMEDCT_US:103252009
has db xref: UMLS:C0497202
has exact synonym: Abnormal extraocular movement
has exact synonym: Abnormal extraocular movements
has exact synonym: Abnormal eye motility
has exact synonym: Abnormal eye movement
has exact synonym: Abnormal eye movements
has exact synonym: Abnormal motility of the globe of the eye
has exact synonym: Abnormal movement of the globe of the eye
has exact synonym: Abnormal ocular movements
has exact synonym: Abnormality of eye movement
has exact synonym: Eye movement abnormalities
has exact synonym: Eye movement issue
has exact synonym: Ocular movement abnormalities
has exact synonym: Oculomotor abnormalities
has OBO namespace: human_phenotype
id: HP:0000496
in subset: hposlim core
type: Class
subclass of: HP_0012373
notation: HP:0000496

Globe retraction and deviation on abduction
tree view: HP_0011347
has db xref: UMLS:C4025848
has OBO namespace: human_phenotype
id: HP:0000497
type: Class
subclass of: HP_0011347
notation: HP:0000497

Blepharitis
tree view: Abnormal eyelid morphology
tree view: HP_0100533
IAO_0000115: Inflammation of the eyelids.
has db xref: MSH:D001762
has db xref: SNOMEDCT_US:231796003
has db xref: SNOMEDCT_US:41446000
has db xref: UMLS:C0005741
has db xref: UMLS:C0339063
has exact synonym: Cellulitis of eyelids
has exact synonym: Inflammation of eyelids
has OBO namespace: human_phenotype
id: HP:0000498
in subset: hposlim core
type: Class
subclass of: Abnormal eyelid morphology
subclass of: HP_0100533
notation: HP:0000498

Abnormal eyelash morphology
tree view: Abnormal eyelid morphology
tree view: Abnormal hair morphology
IAO_0000115: An abnormality of the eyelashes.
has alternative id: HP:0004530
has db xref: UMLS:C2675111
has exact synonym: Abnormal eyelashes
has exact synonym: Abnormality of the eyelashes
has exact synonym: Eyelash abnormality
has OBO namespace: human_phenotype
id: HP:0000499
in subset: hposlim core
type: Class
subclass of: Abnormal eyelid morphology
subclass of: Abnormal hair morphology
notation: HP:0000499

HP_0000500
IAO_0000231: IAO_0000227
IAO_0100001: Long eyelashes
type: Class
deprecated: true
notation: HP:0000500

Glaucoma
tree view: HP_0012373
IAO_0000115: Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.
has db xref: MSH:D005901
has db xref: SNOMEDCT_US:23986001
has db xref: UMLS:C0017601
has OBO namespace: human_phenotype
id: HP:0000501
in subset: hposlim core
type: Class
comment: The feature that differentiates glaucoma from other causes of visual morbidity is a characteristic pattern of damage to the optic nerve head. This is most easily recognised at the superior and inferior poles of the optic disc. The vertical cup:disc ratio (VCDR) has proved to be a simple, relatively robust index of glaucomatous loss of the neuroretinal rim. As with intraocular pressure, VCDR is a continuous variable within the population.
subclass of: HP_0012373
notation: HP:0000501

Abnormal conjunctiva morphology
tree view: HP_0030669
IAO_0000115: An abnormality of the conjunctiva.
has db xref: UMLS:C4025847
has OBO namespace: human_phenotype
id: HP:0000502
in subset: hposlim core
type: Class
comment: The conjunctiva is a thin, sparsely vascularized transparent membrane that covers and protects the sclera (the bulbar conjunctiva), and forms the inner lining of the eyelids (the tarsal conjunctiva).
subclass of: HP_0030669
notation: HP:0000502

Tortuosity of conjunctival vessels
tree view: HP_0008054
IAO_0000115: The presence of an increased number of twists and turns of the conjunctival blood vessels.
has db xref: UMLS:C1855391
has OBO namespace: human_phenotype
id: HP:0000503
type: Class
subclass of: HP_0008054
notation: HP:0000503

Abnormality of vision
tree view: HP_0012373
IAO_0000115: Abnormality of eyesight (visual perception).
has db xref: UMLS:C4025846
has exact synonym: Abnormality of sight
has exact synonym: Abnormality of vision
has exact synonym: Vision issue
has OBO namespace: human_phenotype
id: HP:0000504
in subset: hposlim core
type: Class
subclass of: HP_0012373
notation: HP:0000504

Visual impairment
tree view: Abnormality of vision
IAO_0000115: Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.
has alternative id: HP:0000516
has alternative id: HP:0000566
has alternative id: HP:0007758
has alternative id: HP:0007860
has alternative id: HP:0007983
has db xref: MSH:D014786
has db xref: MSH:D015354
has db xref: SNOMEDCT_US:246635007
has db xref: SNOMEDCT_US:397540003
has db xref: SNOMEDCT_US:7973008
has db xref: UMLS:C0042798
has db xref: UMLS:C3665347
has exact synonym: Impaired vision
has exact synonym: Loss of eyesight
has exact synonym: Poor vision
has exact synonym: Visual impairment
has OBO namespace: human_phenotype
id: HP:0000505
in subset: hposlim core
type: Class
subclass of: Abnormality of vision
notation: HP:0000505

Telecanthus
tree view: Abnormal eyelid morphology
IAO_0000115: Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi.
has db xref: MSH:C562941
has db xref: SNOMEDCT_US:246803005
has db xref: UMLS:C0423113
has exact synonym: Corners of eye widely separated
has exact synonym: Dystopia canthorum
has exact synonym: Increased distance between medial canthi
has exact synonym: Increased intercanthal distance
has OBO namespace: human_phenotype
id: HP:0000506
in subset: hposlim core
type: Class
comment: Dystopia canthorum (also called telecanthus) describes a subtle but unusual facial feature in which the inner corners of the eyes (canthi) are spaced farther apart than normal, yet the eyes (pupils) themselves are not necessarily widely spaced.
subclass of: Abnormal eyelid morphology
notation: HP:0000506

HP_0000507
IAO_0000231: IAO_0000227
IAO_0100001: Blepharophimosis
type: Class
deprecated: true
notation: HP:0000507

Ptosis
tree view: HP_0012373
IAO_0000115: The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).
has db xref: MSH:D001763
has db xref: SNOMEDCT_US:11934000
has db xref: UMLS:C0005745
has exact synonym: Blepharoptosis
has exact synonym: Drooping upper eyelid
has exact synonym: Eyelid ptosis
has OBO namespace: human_phenotype
has related synonym: Eye drop
id: HP:0000508
in subset: hposlim core
type: Class
subclass of: HP_0012373
notation: HP:0000508

Conjunctivitis
tree view: Abnormal conjunctiva morphology
tree view: HP_0025337
tree view: HP_0100533
IAO_0000115: Inflammation of the conjunctiva.
has db xref: MSH:D003231
has db xref: SNOMEDCT_US:9826008
has db xref: UMLS:C0009763
has db xref: UMLS:C1864156
has exact synonym: Pink eye
has OBO namespace: human_phenotype
has related synonym: Conjunctivitis, recurrent
id: HP:0000509
in subset: hposlim core
type: Class
subclass of: Abnormal conjunctiva morphology
subclass of: HP_0025337
subclass of: HP_0100533
notation: HP:0000509

Rod-cone dystrophy
tree view: Retinal dystrophy
IAO_0000115: An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones.
has alternative id: HP:0000547
has alternative id: HP:0001127
has alternative id: HP:0007635
has alternative id: HP:0007645
has alternative id: HP:0007742
has alternative id: HP:0007816
has alternative id: HP:0007826
has alternative id: HP:0007927
has alternative id: HP:0008036
has db xref: MSH:D012174
has db xref: SNOMEDCT_US:28835009
has db xref: UMLS:C0035334
has exact synonym: Retinitis pigmentosa
has exact synonym: Rod cone dystrophy
has OBO namespace: human_phenotype
id: HP:0000510
in subset: hposlim core
type: Class
comment: Retinitis pigmentosa is a group of hereditary diseases of the eye. However, the term retinitis pigmentosa has also been used to describe the retinal findings characteristic of these diseases but also seen on other diseases such as Usher syndrome. It is preferable to describe the findings precisely if possible, but this term is kept for convenience.
subclass of: Retinal dystrophy
notation: HP:0000510

Vertical supranuclear gaze palsy
tree view: Supranuclear gaze palsy
IAO_0000115: A supranuclear gaze palsy is an inability to look in a vertical direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal.
has db xref: SNOMEDCT_US:246773002
has db xref: UMLS:C0339652
has db xref: UMLS:C1843369
has exact synonym: Vertical gaze palsy
has OBO namespace: human_phenotype
id: HP:0000511
type: Class
comment: Vertical gaze palsies can manifest as selective limitation of upgaze or downgaze.
subclass of: Supranuclear gaze palsy
notation: HP:0000511

Abnormal electroretinogram
tree view: HP_0030453
IAO_0000115: Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography.
has alternative id: HP:0003285
has db xref: SNOMEDCT_US:274524001
has db xref: UMLS:C0476397
has exact synonym: Abnormal ERG
has exact synonym: Abnormal electroretinography
has exact synonym: ERG abnormal
has OBO namespace: human_phenotype
id: HP:0000512
in subset: hposlim core
type: Class
comment: The electrical responses of the photoreceptors (rods and cones), inner retinal cells (bipolar and amacrine cells), and the ganglion cells can be assessed by ERG.
subclass of: HP_0030453
notation: HP:0000512

HP_0000513
IAO_0000231: IAO_0000227
IAO_0100001: Blepharophimosis
type: Class
deprecated: true
notation: HP:0000513

Slow saccadic eye movements
tree view: Abnormal saccadic eye movements
IAO_0000115: An abnormally slow velocity of the saccadic eye movements.
has db xref: SNOMEDCT_US:404686001
has db xref: UMLS:C1321329
has exact synonym: Slow eye movements
has exact synonym: Slow saccades
has exact synonym: Slow visual tracking
has OBO namespace: human_phenotype
id: HP:0000514
in subset: hposlim core
type: Class
comment: Saccades are rapid eye movements that align the fovea with the target.
subclass of: Abnormal saccadic eye movements
notation: HP:0000514

HP_0000515
IAO_0000231: IAO_0000227
IAO_0100001: HP_0007759
type: Class
deprecated: true
notation: HP:0000515

HP_0000516
IAO_0000231: IAO_0000227
IAO_0100001: Visual impairment
type: Class
deprecated: true
notation: HP:0000516

Abnormality of the lens
tree view: Abnormal anterior eye segment morphology
IAO_0000115: An abnormality of the lens.
has db xref: MSH:D007905
has db xref: SNOMEDCT_US:10810001
has db xref: UMLS:C0023308
has db xref: UMLS:C0549651
has exact synonym: Abnormality of the lens
has exact synonym: Lens issue
has OBO namespace: human_phenotype
has related synonym: Lens disease
id: HP:0000517
type: Class
subclass of: Abnormal anterior eye segment morphology
notation: HP:0000517

Cataract
tree view: Abnormality of the lens
IAO_0000115: A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.
has alternative id: HP:0001113
has alternative id: HP:0007825
has alternative id: HP:0010700
has db xref: Fyler:4865
has db xref: MSH:D002386
has db xref: SNOMEDCT_US:128306009
has db xref: SNOMEDCT_US:193570009
has db xref: SNOMEDCT_US:247053007
has db xref: UMLS:C0086543
has db xref: UMLS:C1510497
has exact synonym: Cataracts
has exact synonym: Clouding of the lens of the eye
has exact synonym: Cloudy lens
has exact synonym: Lens opacities
has exact synonym: Lens opacity
has OBO namespace: human_phenotype
id: HP:0000518
in subset: hposlim core
type: Class
comment: Note that some ophthalmologists call any opacity in the lens a cataract, while others restrict the term to lens opacities that impair vision. We use the term to refer to the first meaning (any lens opacity).
subclass of: Abnormality of the lens
notation: HP:0000518

Developmental cataract
tree view: Cataract
tree view: HP_0007700
IAO_0000115: A cataract that occurs congenitally as the result of a developmental defect, in contrast to the majority of cataracts that occur in adulthood as the result of degenerative changes of the lens.
has alternative id: HP:0001108
has alternative id: HP:0007679
has alternative id: HP:0007692
has alternative id: HP:0007726
has alternative id: HP:0007788
has db xref: SNOMEDCT_US:609587005
has db xref: SNOMEDCT_US:79410001
has db xref: UMLS:C0009691
has db xref: UMLS:C3277059
has exact synonym: Bilateral congenital cataracts
has exact synonym: Cataract, congenital
has exact synonym: Clouding of the lens of the eye at birth
has exact synonym: Congenital cataract
has exact synonym: Congenital cataracts
has exact synonym: Congenital cataracts, bilateral
has OBO namespace: human_phenotype
id: HP:0000519
in subset: hposlim core
type: Class
comment: In general, congenital cataracts are bilateral and that is the assumption with the terms in this cataract subhierarchy.
subclass of: Cataract
subclass of: HP_0007700
notation: HP:0000519

Proptosis
tree view: HP_0100886
IAO_0000115: An eye that is protruding anterior to the plane of the face to a greater extent than is typical.
has alternative id: HP:0000536
has alternative id: HP:0000644
has alternative id: HP:0000645
has alternative id: HP:0007711
has alternative id: HP:0007870
has db xref: MSH:D005094
has db xref: SNOMEDCT_US:18265008
has db xref: UMLS:C0015300
has db xref: UMLS:C1837760
has db xref: UMLS:C1848490
has db xref: UMLS:C1862425
has exact synonym: Anterior bulging of the globe
has exact synonym: Anterior bulging of the globe of eye
has exact synonym: Bulging eye
has exact synonym: Exophthalmos
has exact synonym: Eyeballs bulging out
has exact synonym: Ocular proptosis
has exact synonym: Prominent eyes
has exact synonym: Prominent globes
has exact synonym: Protruding eyes
has exact synonym: Protrusio bulbi
has OBO namespace: human_phenotype
id: HP:0000520
in subset: hposlim core
type: Class
comment: Some sources define "exophthalmos" as a protrusion of the globe greater than 18 mm and "proptosis" as a protusion equal to or less than 18 mm. Others define "exophthalmos" as protusion secondary to endocrine dysfunction and "proptosis" as any non-endocrine-mediated protusion (Source: Wikipedia). This finding should be distinguished frm underdevelopment of the supraorbital ridge or maxilla/zygoma. In proptosis, the globe is anteriorly protuberant to the overall plane of the face.
subclass of: HP_0100886
notation: HP:0000520

HP_0000521
IAO_0000231: IAO_0000227
IAO_0100001: Lacrimation abnormality
type: Class
deprecated: true
notation: HP:0000521

Alacrima
tree view: Decreased lacrimation
IAO_0000115: Absence of tear secretion.
has db xref: MSH:C562827
has db xref: SNOMEDCT_US:253215004
has db xref: UMLS:C0344505
has exact synonym: Absence of tears in the eyes
has exact synonym: Absent lacrimal fluids
has exact synonym: Absent tear secretion
has OBO namespace: human_phenotype
id: HP:0000522
in subset: hposlim core
type: Class
comment: Alacrima is generally a congenital deficiency.
subclass of: Decreased lacrimation
notation: HP:0000522

Subcapsular cataract
tree view: Cataract
IAO_0000115: A cataract that affects the region of the lens directly beneath the capsule of the lens.
has alternative id: HP:0001490
has alternative id: HP:0007978
has db xref: SNOMEDCT_US:95723009
has db xref: UMLS:C0235259
has exact synonym: Subcapsular cataracts
has exact synonym: Subcapsular lenticular cataracts
has exact synonym: Subcapsular opacities
has OBO namespace: human_phenotype
id: HP:0000523
type: Class
subclass of: Cataract
notation: HP:0000523

Conjunctival telangiectasia
tree view: HP_0008054
tree view: HP_0100579
IAO_0000115: The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the conjunctiva.
has db xref: SNOMEDCT_US:231870008
has db xref: UMLS:C0239105
has exact synonym: Conjunctival telangiectases
has exact synonym: Small dilated blood vessels near membrane covering front of eye and eyelids
has exact synonym: Telangiectasia, conjunctival
has OBO namespace: human_phenotype
id: HP:0000524
in subset: hposlim core
type: Class
subclass of: HP_0008054
subclass of: HP_0100579
notation: HP:0000524

Abnormality iris morphology
tree view: Abnormal uvea morphology
tree view: Abnormal anterior eye segment morphology
IAO_0000115: An abnormality of the iris, which is the pigmented muscular tissue between the cornea and the lens, that is perforated by an opening called the pupil.
has db xref: UMLS:C4025845
has exact synonym: Abnormality of the iris
has OBO namespace: human_phenotype
id: HP:0000525
in subset: hposlim core
type: Class
subclass of: Abnormal uvea morphology
subclass of: Abnormal anterior eye segment morphology
notation: HP:0000525

Aniridia
tree view: HP_0008053
IAO_0000115: Abnormality of the iris characterized by, typically bilateral, complete or partial iris hypoplasia. The phenotype ranges from mild defects of anterior iris stroma only to almost complete absence of the iris.
has alternative id: HP:0011498
has db xref: MSH:D015783
has db xref: SNOMEDCT_US:69278003
has db xref: UMLS:C0003076
has exact synonym: Absent iris
has OBO namespace: human_phenotype
id: HP:0000526
in subset: hposlim core
type: Class
subclass of: HP_0008053
notation: HP:0000526

Long eyelashes
tree view: Abnormal eyelash morphology
IAO_0000115: Mid upper eyelash length >10 mm or increased length of the eyelashes (subjective).
has alternative id: HP:0000500
has db xref: UMLS:C1853738
has exact synonym: Ciliary trichomegaly
has exact synonym: Eyelash trichomegaly
has exact synonym: Increased length of eyelashes
has exact synonym: Long eyelashes
has exact synonym: Unusually long eyelashes
has OBO namespace: human_phenotype
id: HP:0000527
in subset: hposlim core
type: Class
comment: Measurement should be done on the longest lashes, which are usually at the center of the lid. Normal values are 7.99 - 1.05 mm in boys and 7.76 - 1.03 mm in girls. Note that Eyelash trichomegaly is defined as increase in length (12 mm or more), curling, pigmentation or thickness of eyelashes.
subclass of: Abnormal eyelash morphology
notation: HP:0000527

Anophthalmia
tree view: HP_0008056
tree view: HP_0100887
IAO_0000115: Absence of the globe or eyeball.
has alternative id: HP:0001485
has alternative id: HP:0007664
has db xref: Fyler:4864
has db xref: MSH:D000853
has db xref: SNOMEDCT_US:204099004
has db xref: SNOMEDCT_US:7183006
has db xref: UMLS:C0003119
has exact synonym: Absence of eyeballs
has exact synonym: Absence of globes of eyes
has exact synonym: Anophthalmia, clinical
has exact synonym: Clinical anophthalmia, unilateral/bilateral
has exact synonym: Failure of development of eyeball
has exact synonym: Missing eyeball
has exact synonym: Missing globe of eye
has exact synonym: No eyeball
has exact synonym: No globe of eye
has exact synonym: Ocular absence
has OBO namespace: human_phenotype
id: HP:0000528
in subset: hposlim core
type: Class
subclass of: HP_0008056
subclass of: HP_0100887
notation: HP:0000528

Progressive visual loss
tree view: Visual loss
IAO_0000115: A reduction of previously attained ability to see.
has alternative id: HP:0000560
has alternative id: HP:0007735
has alternative id: HP:0007753
has alternative id: HP:0007967
has db xref: UMLS:C1839364
has db xref: UMLS:C3277697
has exact synonym: Loss of visual acuity
has exact synonym: Progressive loss of vision
has exact synonym: Progressive vision loss
has exact synonym: Progressive visual acuity loss
has exact synonym: Progressive visual impairment
has exact synonym: Slowly progressive visual loss
has exact synonym: Vision loss, progressive
has exact synonym: Visual loss, progressive
has OBO namespace: human_phenotype
has related synonym: Decreased visual acuity, progressive
id: HP:0000529
in subset: hposlim core
type: Class
subclass of: Visual loss
notation: HP:0000529

HP_0000530
IAO_0000231: IAO_0000227
IAO_0100001: Saccadic smooth pursuit
type: Class
deprecated: true
notation: HP:0000530

Corneal crystals
tree view: HP_0007759
has db xref: UMLS:C1096610
has exact synonym: Corneal deposits
has OBO namespace: human_phenotype
id: HP:0000531
type: Class
subclass of: HP_0007759
notation: HP:0000531

Abnormal chorioretinal morphology
tree view: Abnormal retinal morphology
tree view: Abnormal choroid morphology
IAO_0000115: An abnormality of the choroid and retina.
has alternative id: HP:0001145
has alternative id: HP:0007888
has db xref: UMLS:C4025844
has exact synonym: Chorioretinal abnormality
has OBO namespace: human_phenotype
id: HP:0000532
type: Class
comment: The choroid is the vascular layer of the eye, located between the retina and the sclera.
subclass of: Abnormal retinal morphology
subclass of: Abnormal choroid morphology
notation: HP:0000532

Chorioretinal atrophy
tree view: HP_0200065
IAO_0000115: Atrophy of the choroid and retinal layers of the fundus.
has alternative id: HP:0001150
has alternative id: HP:0007884
has alternative id: HP:0007918
has alternative id: HP:0007931
has db xref: SNOMEDCT_US:95686007
has db xref: UMLS:C4048273
has exact synonym: Chorioretinal thinning
has OBO namespace: human_phenotype
id: HP:0000533
type: Class
comment: Choroidal sclerosis is a descriptive term applied to the ophthalmoscopic appearance of prominent white choroidal vessels in which the blood columns are not seen or are sheathed by white lines. Choroidal sclerosis is a term used to describe a group of genetically heterogeneous retinal dystrophies that share a common funduscopic phenotype of scalloped, well-circumscribed, and confluent chorioretinal atrophic lesions that extend beyond the macula. The term choroidal sclerosis was initially coined because of the sclerotic appearance of choroidal vessels which frequently appear white or light-yellow. However, histologic studies have demonstrated the term to be a misnomer as the principle abnormality is the loss of choriocapillaris, retinal pigment epithelium (RPE), and the outer retina in the absence of abnormal sclerotic changes in the choroidal vasculature. Therefore, we are making choroidal sclerosis a synonym of chorioretinal atrophy.
subclass of: HP_0200065
notation: HP:0000533

Abnormal eyebrow morphology
tree view: Abnormal hair morphology
tree view: HP_0030669
IAO_0000115: An abnormality of the eyebrow.
has db xref: UMLS:C4011556
has exact synonym: Abnormality of the eyebrow
has OBO namespace: human_phenotype
id: HP:0000534
in subset: hposlim core
type: Class
subclass of: Abnormal hair morphology
subclass of: HP_0030669
notation: HP:0000534

Sparse and thin eyebrow
tree view: HP_0045074
tree view: HP_0045075
IAO_0000115: Decreased density/number and/or decreased diameter of eyebrow hairs.
has alternative id: HP:0002222
has alternative id: HP:0002554
has alternative id: HP:0004520
has alternative id: HP:0004551
has db xref: UMLS:C1832446
has exact synonym: Sparse and thin eyebrow
has exact synonym: Thin, sparse eyebrows
has OBO namespace: human_phenotype
id: HP:0000535
in subset: hposlim core
type: Class
comment: Sparseness can be regional (medial, central, lateral) or total. These modifiers should be incorporated into the term, when appropriate.
subclass of: HP_0045074
subclass of: HP_0045075
notation: HP:0000535

HP_0000536
IAO_0000231: IAO_0000227
IAO_0100001: Proptosis
type: Class
deprecated: true
notation: HP:0000536

Epicanthus inversus
tree view: Epicanthus
IAO_0000115: A fold of skin starting at or just below the medial aspect of the lower lid and arching upward to cover, extend in front of and lateral to the medial canthus.
has db xref: SNOMEDCT_US:400956000
has db xref: UMLS:C1303003
has OBO namespace: human_phenotype
id: HP:0000537
in subset: hposlim core
type: Class
subclass of: Epicanthus
notation: HP:0000537

Pseudopapilledema
tree view: HP_0012795
IAO_0000115: Apparent optic disc swelling in the absence of increased intracranial pressure.
has db xref: MSH:C562401
has db xref: SNOMEDCT_US:57138009
has db xref: UMLS:C0155300
has OBO namespace: human_phenotype
id: HP:0000538
in subset: hposlim core
type: Class
comment: Papilledema is disc edema secondary to increased intracranial pressure.
subclass of: HP_0012795
notation: HP:0000538

Abnormality of refraction
tree view: HP_0012373
IAO_0000115: An abnormality in the process of focusing of light by the eye in order to produce a sharp image on the retina.
has db xref: UMLS:C4025843
has OBO namespace: human_phenotype
id: HP:0000539
type: Class
subclass of: HP_0012373
notation: HP:0000539

Hypermetropia
tree view: Abnormality of refraction
IAO_0000115: An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry.
has db xref: MSH:D006956
has db xref: SNOMEDCT_US:38101003
has db xref: UMLS:C0020490
has exact synonym: Farsightedness
has exact synonym: Hyperopia
has exact synonym: Long-sightedness
has OBO namespace: human_phenotype
id: HP:0000540
in subset: hposlim core
type: Class
comment: The American Optometric Association subdivides hypermetropia into (i) low (up to +2D), moderate (2 to 5D), and high (over 5D).
subclass of: Abnormality of refraction
notation: HP:0000540

Retinal detachment
tree view: Abnormal retinal morphology
IAO_0000115: Separation of the inner layers of the retina (neural retina) from the pigment epithelium.
has alternative id: HP:0007864
has alternative id: HP:0008021
has db xref: MSH:D012163
has db xref: SNOMEDCT_US:42059000
has db xref: UMLS:C0035305
has exact synonym: Detached retina
has exact synonym: Retinal detachment
has OBO namespace: human_phenotype
id: HP:0000541
in subset: hposlim core
type: Class
subclass of: Abnormal retinal morphology
notation: HP:0000541

Impaired ocular adduction
tree view: Abnormality of eye movement
IAO_0000115: Reduced ability to move the eye in the direction of the nose.
has db xref: UMLS:C1846463
has OBO namespace: human_phenotype
id: HP:0000542
type: Class
comment: Contraction of the medial rectus pulls the eye towards the nose (adduction or medial movement).
subclass of: Abnormality of eye movement
notation: HP:0000542

Optic disc pallor
tree view: HP_0012795
IAO_0000115: A pale yellow discoloration of the optic disk (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression.
has alternative id: HP:0001148
has alternative id: HP:0001484
has db xref: SNOMEDCT_US:302200001
has db xref: UMLS:C0554970
has exact synonym: Pale optic disc
has exact synonym: Pale optic disk
has OBO namespace: human_phenotype
has related synonym: Disc pallor
has related synonym: Optic disk pallor
has related synonym: Pale optic discs
id: HP:0000543
in subset: hposlim core
type: Class
comment: Optic disc pallor can be judged clinically with serial color photographs or by comparison to the other eye. The pallor reflects replacement of dead axons by glial tissue. The loss of the small capillaries within the nerve accounts for the shift from orange-pink to white.
subclass of: HP_0012795
notation: HP:0000543

External ophthalmoplegia
tree view: Ophthalmoplegia
IAO_0000115: Paralysis of the external ocular muscles.
has alternative id: HP:0007762
has db xref: MSH:D009886
has db xref: MSH:D017246
has db xref: SNOMEDCT_US:19373007
has db xref: SNOMEDCT_US:46252003
has db xref: UMLS:C0162292
has db xref: UMLS:C0162674
has exact synonym: CPEO
has exact synonym: Chronic progressive external ophthalmoplegia
has exact synonym: Ophthalmoplegia externa
has exact synonym: Paralysis or weakness of muscles within or surrounding outer part of eye
has exact synonym: Progressive paralysis or weakness of muscles of eye motility
has exact synonym: Progressive paralysis or weakness of muscles of eye movement
has OBO namespace: human_phenotype
id: HP:0000544
type: Class
subclass of: Ophthalmoplegia
notation: HP:0000544

Myopia
tree view: Abnormality of refraction
IAO_0000115: An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry.
has alternative id: HP:0001110
has alternative id: HP:0007847
has alternative id: HP:0008012
has db xref: MSH:D009216
has db xref: SNOMEDCT_US:57190000
has db xref: UMLS:C0027092
has exact synonym: Close sighted
has exact synonym: Near sighted
has exact synonym: Near sightedness
has exact synonym: Nearsightedness
has OBO namespace: human_phenotype
id: HP:0000545
in subset: hposlim core
type: Class
subclass of: Abnormality of refraction
notation: HP:0000545

Retinal degeneration
tree view: Abnormal retinal morphology
IAO_0000115: A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells.
has alternative id: HP:0007632
has alternative id: HP:0007790
has alternative id: HP:0007863
has alternative id: HP:0007893
has db xref: MSH:D012162
has db xref: SNOMEDCT_US:95695004
has db xref: UMLS:C0035304
has exact synonym: Retina degeneration
has OBO namespace: human_phenotype
id: HP:0000546
in subset: hposlim core
type: Class
subclass of: Abnormal retinal morphology
notation: HP:0000546

obsolete Tapetoretinal degeneration
IAO_0000231: IAO_0000227
IAO_0100001: Rod-cone dystrophy
IAO_0100001: HP:0000510
has exact synonym: Retinotapetal degeneration
has OBO namespace: human_phenotype
id: HP:0000547
type: Class
deprecated: true
notation: HP:0000547

Cone/cone-rod dystrophy
tree view: Retinal dystrophy
has alternative id: HP:0008157
has db xref: MSH:D012174
has db xref: SNOMEDCT_US:28835009
has db xref: SNOMEDCT_US:312917007
has db xref: UMLS:C0035334
has db xref: UMLS:C0730290
has db xref: UMLS:C4072827
has exact synonym: Cone rod dystrophy
has exact synonym: Cone-rod retinal dystrophy
has OBO namespace: human_phenotype
id: HP:0000548
type: Class
subclass of: Retinal dystrophy
notation: HP:0000548

Abnormal conjugate eye movement
tree view: Abnormality of eye movement
IAO_0000115: Any deviation from the normal motor coordination of the eyes that allows for bilateral fixation on a single object.
has db xref: UMLS:C1845274
has exact synonym: Disconjugate eye movements
has OBO namespace: human_phenotype
id: HP:0000549
type: Class
subclass of: Abnormality of eye movement
notation: HP:0000549

Undetectable electroretinogram
tree view: Abnormal electroretinogram
IAO_0000115: Lack of any response to stimulation upon electroretinography.
has alternative id: HP:0008042
has db xref: UMLS:C1855685
has exact synonym: Abolished electroretinogram
has exact synonym: Absent electroretinogram
has exact synonym: Extinction of electroretinogram
has exact synonym: Extinguished electroretinogram
has exact synonym: No light-evoked response on electroretinogram
has exact synonym: Undetectable ERG
has OBO namespace: human_phenotype
id: HP:0000550
type: Class
subclass of: Abnormal electroretinogram
notation: HP:0000550

Color vision defect
tree view: Abnormality of vision
IAO_0000115: An anomaly in the ability to discriminate between or recognize colors.
has db xref: MSH:D003117
has db xref: SNOMEDCT_US:23289000
has db xref: SNOMEDCT_US:367469000
has db xref: UMLS:C0009398
has db xref: UMLS:C0234629
has db xref: UMLS:C3552853
has exact synonym: Abnormal color vision
has exact synonym: Abnormality of color vision
has exact synonym: Abnormality of colour vision
has OBO namespace: human_phenotype
has related synonym: Color vision defect, severe
has related synonym: Color vision defects
has related synonym: Colour vision defect
has related synonym: Loss in color vision
id: HP:0000551
type: Class
subclass of: Abnormality of vision
notation: HP:0000551

Tritanomaly
tree view: HP_0011519
IAO_0000115: Difficulty distinguishing between yellow and blue, possible related to dysfunction of the S photopigment.
has db xref: MSH:D003117
has db xref: SNOMEDCT_US:51886007
has db xref: SNOMEDCT_US:85049009
has db xref: UMLS:C0155017
has db xref: UMLS:C1970167
has exact synonym: Blue yellow color blindness
has exact synonym: Blue-yellow dyschromatopsia
has exact synonym: Dyschromatopsia, blue-yellow
has OBO namespace: human_phenotype
has related synonym: Blue/yellow color vision defect
id: HP:0000552
type: Class
subclass of: HP_0011519
notation: HP:0000552

Abnormal uvea morphology
tree view: HP_0012372
IAO_0000115: An abnormality of the uvea, the vascular layer of the eyeball.
has db xref: UMLS:C4025842
has exact synonym: Abnormality of the uvea
has OBO namespace: human_phenotype
id: HP:0000553
type: Class
subclass of: HP_0012372
notation: HP:0000553

Uveitis
tree view: Abnormal uvea morphology
tree view: HP_0100533
IAO_0000115: Inflammation of one or all portions of the uveal tract.
has db xref: MSH:D014605
has db xref: SNOMEDCT_US:128473001
has db xref: UMLS:C0042164
has OBO namespace: human_phenotype
id: HP:0000554
in subset: hposlim core
type: Class
comment: The uvea is the pigmented middle layer of the eye consisting of the iris and ciliary body together with the choroid.
subclass of: Abnormal uvea morphology
subclass of: HP_0100533
notation: HP:0000554

Leukocoria
tree view: Abnormal pupil morphology
IAO_0000115: An abnormal white reflection from the pupil rather than the usual black reflection.
has db xref: SNOMEDCT_US:1361009
has db xref: UMLS:C0152458
has exact synonym: Leukokoria
has exact synonym: White pupillary reflex
has OBO namespace: human_phenotype
id: HP:0000555
type: Class
comment: The word leukocoria literally means white pupil, but leukocoria is not an abnormality of the pupil. Rather, leukocoria can be caused by cataract, retinal detachment, retinopathy of prematurity, retinal malformation, endophthalmitis, retinal vascular abnormality, and intraocular tumor (e.g., retinoblastoma).
subclass of: Abnormal pupil morphology
notation: HP:0000555

Retinal dystrophy
tree view: Abnormal retinal morphology
IAO_0000115: Retinal dystrophy is an abnormality of the retina associated with a hereditary process. Retinal dystrophies are defined by their predominantly monogenic inheritance and they are frequently associated with loss or dysfunction of photoreceptor cells as a primary or secondary event.
has alternative id: HP:0007736
has alternative id: HP:0007910
has alternative id: HP:0007974
has alternative id: HP:0007982
has db xref: MSH:D058499
has db xref: SNOMEDCT_US:314407005
has db xref: UMLS:C0854723
has exact synonym: Breakdown of light-sensitive cells in back of eye
has OBO namespace: human_phenotype
id: HP:0000556
type: Class
subclass of: Abnormal retinal morphology
notation: HP:0000556

Buphthalmos
tree view: Developmental glaucoma
tree view: Abnormally large globe
IAO_0000115: Diffusely large eye (with megalocornea) associated with glaucoma.
has db xref: MSH:D006871
has db xref: SNOMEDCT_US:204113001
has db xref: SNOMEDCT_US:246920008
has db xref: SNOMEDCT_US:413728006
has db xref: UMLS:C0020302
has db xref: UMLS:C0423221
has exact synonym: Enlarged eyeball
has OBO namespace: human_phenotype
id: HP:0000557
in subset: hposlim core
type: Class
comment: Buphthalmos refers to a congenital open-angle glaucoma of the eye. The term buphthalmos (from Greek 'bous' or ox and 'ophthalmos' or eye) is descriptive of an enlarged eyeglobe resulting from increased intraocular pressure. The eyeglobe is especially prone to distension in newborns and infants because its collagen filaments are not as rigid as in adults and may easily be stretched.
subclass of: Developmental glaucoma
subclass of: Abnormally large globe
notation: HP:0000557

Rieger anomaly
tree view: HP_0007676
IAO_0000115: A congenital malformation of the anterior segment characterized by iridicorneal malformation, glaucoma, iris stroma hypoplasia, posterior embryotoxon, and corneal opacities.
has db xref: MSH:C535679
has db xref: SNOMEDCT_US:47507006
has db xref: UMLS:C0265341
has OBO namespace: human_phenotype
id: HP:0000558
type: Class
comment: Hypoplasia (underdevelopment) of the iris as well as iris strands to the peripheral cornea.
subclass of: HP_0007676
notation: HP:0000558

Corneal scarring
tree view: HP_0007957
tree view: HP_0100699
has db xref: MSH:D065306
has db xref: SNOMEDCT_US:95726001
has db xref: UMLS:C0349702
has OBO namespace: human_phenotype
id: HP:0000559
type: Class
subclass of: HP_0007957
subclass of: HP_0100699
notation: HP:0000559

HP_0000560
IAO_0000231: IAO_0000227
IAO_0100001: Progressive visual loss
type: Class
deprecated: true
notation: HP:0000560

Absent eyelashes
tree view: Absent facial hair
tree view: HP_0200102
IAO_0000115: Lack of eyelashes.
has alternative id: HP:0002288
has alternative id: HP:0004516
has alternative id: HP:0004539
has alternative id: HP:0007926
has db xref: UMLS:C1843005
has db xref: UMLS:C4280626
has db xref: UMLS:C4280627
has exact synonym: Absent eyelashes
has exact synonym: Atrichia of eyelashes
has exact synonym: Failure of development of eyelashes
has narrow synonym: Agenesis of eyelashes
has narrow synonym: Aplasia of eyelashes
has OBO namespace: human_phenotype
id: HP:0000561
in subset: hposlim core
type: Class
comment: Often this finding is congenital and associated with alopecia universalis, but this should be coded separately.
subclass of: Absent facial hair
subclass of: HP_0200102
notation: HP:0000561

HP_0000562
IAO_0000231: IAO_0000227
IAO_0100001: Progressive external ophthalmoplegia
type: Class
deprecated: true
notation: HP:0000562

Keratoconus
tree view: HP_0100689
tree view: HP_0100692
IAO_0000115: A cone-shaped deformity of the cornea characterized by the presence of corneal distortion secondary to thinning of the apex.
has db xref: MSH:D007640
has db xref: SNOMEDCT_US:65636009
has db xref: UMLS:C0022578
has exact synonym: Bulging cornea
has exact synonym: Conical cornea
has OBO namespace: human_phenotype
id: HP:0000563
in subset: hposlim core
type: Class
comment: Keratoconus is an entity characterid by several phenotypic findings such as corneal distortion (secondary to thinning of the apex) and either Fleischer's ring or Vogt's striae. This HPO term intends to denote the finding of corneal distortion and bulge.
subclass of: HP_0100689
subclass of: HP_0100692
notation: HP:0000563

Lacrimal duct atresia
tree view: HP_0011481
IAO_0000115: A developmental disorder of the lacrimal drainage system that most often affects the lacrimal ostium and resulting in non-opening of the nasolacrimal duct. It usually results from a non-canalization of the nasolacrimal duct.
has alternative id: HP:0007729
has db xref: SNOMEDCT_US:278530008
has db xref: UMLS:C0344511
has exact synonym: Imperforate nasolacrimal ducts
has exact synonym: Nasolacrimal duct atresia
has exact synonym: Unopened tear duct
has OBO namespace: human_phenotype
id: HP:0000564
type: Class
subclass of: HP_0011481
notation: HP:0000564

Esotropia
tree view: HP_0020045
tree view: HP_0032012
IAO_0000115: A form of strabismus with one or both eyes turned inward ('crossed') to a relatively severe degree, usually defined as 10 diopters or more.
has db xref: MSH:D004948
has db xref: SNOMEDCT_US:16596007
has db xref: UMLS:C0014877
has exact synonym: Inward turning cross eyed
has OBO namespace: human_phenotype
id: HP:0000565
in subset: hposlim core
type: Class
comment: Esotropia is analogous to but more severe thatn esophoria. Affected children are more likely to have amblyopia or require corrective eye muscle surgery than children with esophoria.
subclass of: HP_0020045
subclass of: HP_0032012
notation: HP:0000565

HP_0000566
IAO_0000231: IAO_0000227
IAO_0100001: Visual impairment
type: Class
deprecated: true
notation: HP:0000566

Chorioretinal coloboma
tree view: Abnormal chorioretinal morphology
tree view: Coloboma
IAO_0000115: Absence of a region of the retina, retinal pigment epithelium, and choroid.
has alternative id: HP:0000611
has alternative id: HP:0007718
has alternative id: HP:0007784
has alternative id: HP:0007956
has db xref: SNOMEDCT_US:39302008
has db xref: UMLS:C0240896
has exact synonym: Birth defect that causes a hole in the innermost layer at the back of the eye
has exact synonym: Choroidoretinal coloboma
has OBO namespace: human_phenotype
has related synonym: Choroid coloboma
has related synonym: Choroidal coloboma
has related synonym: Coloboma of choroid
id: HP:0000567
type: Class
subclass of: Abnormal chorioretinal morphology
subclass of: Coloboma
notation: HP:0000567

Microphthalmia
tree view: HP_0008056
tree view: HP_0100887
IAO_0000115: A developmental anomaly characterized by abnormal smallness of one or both eyes.
has alternative id: HP:0007996
has broad synonym: Decreased size of eyeball
has broad synonym: Decreased size of globe of eye
has db xref: Fyler:4877
has db xref: MSH:D008850
has db xref: SNOMEDCT_US:204108000
has db xref: SNOMEDCT_US:61142002
has db xref: UMLS:C0026010
has db xref: UMLS:C4280625
has db xref: UMLS:C4280808
has exact synonym: Abnormally small eyeball
has exact synonym: Abnormally small globe of eye
has exact synonym: Microphthalmos
has OBO namespace: human_phenotype
has related synonym: Nanophthalmos
id: HP:0000568
in subset: hposlim core
type: Class
subclass of: HP_0008056
subclass of: HP_0100887
notation: HP:0000568

HP_0000569
IAO_0000231: IAO_0000227
IAO_0100001: HP_0011003
type: Class
deprecated: true
notation: HP:0000569

Abnormal saccadic eye movements
tree view: Abnormality of eye movement
IAO_0000115: An abnormality of eye movement characterized by impairment of fast (saccadic) eye movements.
has alternative id: HP:0000604
has db xref: UMLS:C1842584
has db xref: UMLS:C4025841
has exact synonym: Abnormality of saccadic eye movements
has OBO namespace: human_phenotype
has related synonym: Impaired saccades
id: HP:0000570
type: Class
comment: Fast (saccadic) eye movements comprise voluntary or involuntary refixation movements, the fast phase of vestibular nystagmus, optokinetic nystagmus, and microsaccades.
subclass of: Abnormality of eye movement
notation: HP:0000570

Hypometric saccades
tree view: Abnormal saccadic eye movements
IAO_0000115: Saccadic undershoot, i.e., a saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object.
has db xref: SNOMEDCT_US:246768008
has db xref: UMLS:C0423082
has OBO namespace: human_phenotype
id: HP:0000571
type: Class
subclass of: Abnormal saccadic eye movements
notation: HP:0000571

Visual loss
tree view: Visual impairment
IAO_0000115: Loss of visual acuity (implying that vision was better at a certain timepoint in life). Otherwise the term reduced visual acuity should be used (or a subclass of that).
has db xref: SNOMEDCT_US:7973008
has db xref: UMLS:C3665386
has exact synonym: Loss of vision
has exact synonym: Vision loss
has exact synonym: Visual loss
has OBO namespace: human_phenotype
id: HP:0000572
type: Class
subclass of: Visual impairment
notation: HP:0000572

Retinal hemorrhage
tree view: Abnormal retinal morphology
tree view: HP_0011885
tree view: HP_0031803
IAO_0000115: Hemorrhage occurring within the retina.
has db xref: MSH:D012166
has db xref: SNOMEDCT_US:28998008
has db xref: UMLS:C0035317
has exact synonym: Retinal bleeding
has exact synonym: Retinal hemorrhages
has OBO namespace: human_phenotype
id: HP:0000573
in subset: hposlim core
type: Class
comment: The type of retinal hemorrhage and its clinical appearance depends on its location within the retina.
subclass of: Abnormal retinal morphology
subclass of: HP_0011885
subclass of: HP_0031803
notation: HP:0000573

Thick eyebrow
tree view: Abnormal eyebrow morphology
IAO_0000115: Increased density/number and/or increased diameter of eyebrow hairs.
has alternative id: HP:0004546
has db xref: UMLS:C1853487
has exact synonym: Bushy eyebrows
has exact synonym: Dense eyebrow
has exact synonym: Heavy eyebrows
has exact synonym: Hypertrichosis of the eyebrow
has exact synonym: Prominent eyebrows
has exact synonym: Thick eyebrow
has exact synonym: Thick eyebrows
has OBO namespace: human_phenotype
has related synonym: Hypertrichosis of the eyebrows
id: HP:0000574
in subset: hposlim core
type: Class
comment: Thickness can be regional (medial, middle/central, lateral) or total.
subclass of: Abnormal eyebrow morphology
notation: HP:0000574

Scotoma
tree view: Visual field defect
IAO_0000115: A regional and pathological increase of the light detection threshold in any region of the visual field surrounded by a field of normal or relatively well-preserved vision.
has broad synonym: Blind spot
has db xref: MSH:D009898
has db xref: MSH:D012607
has db xref: SNOMEDCT_US:23388006
has db xref: SNOMEDCT_US:81016008
has db xref: UMLS:C0036454
has db xref: UMLS:C0344233
has OBO namespace: human_phenotype
id: HP:0000575
in subset: hposlim core
type: Class
subclass of: Visual field defect
notation: HP:0000575

Centrocecal scotoma
tree view: Scotoma
IAO_0000115: A scotoma (area of diminished vision within the visual field) located between the central point of fixation and the blind spot with a roughly horizontal oval shape.
has db xref: MSH:D012607
has db xref: SNOMEDCT_US:33014001
has db xref: UMLS:C0271196
has OBO namespace: human_phenotype
id: HP:0000576
type: Class
subclass of: Scotoma
notation: HP:0000576

Exotropia
tree view: HP_0020049
tree view: HP_0032012
IAO_0000115: A form of strabismus with one or both eyes deviated outward.
has alternative id: HP:0008033
has db xref: MSH:D005099
has db xref: SNOMEDCT_US:399054005
has db xref: SNOMEDCT_US:399252000
has db xref: UMLS:C0015310
has exact synonym: Outward facing eye ball
has OBO namespace: human_phenotype
id: HP:0000577
in subset: hposlim core
type: Class
subclass of: HP_0020049
subclass of: HP_0032012
notation: HP:0000577

HP_0000578
IAO_0000231: IAO_0000227
IAO_0100001: Hypertelorism
type: Class
deprecated: true
notation: HP:0000578

Nasolacrimal duct obstruction
tree view: HP_0011481
IAO_0000115: Blockage of the lacrimal duct.
has db xref: MSH:D007767
has db xref: SNOMEDCT_US:231841004
has db xref: SNOMEDCT_US:246865000
has db xref: SNOMEDCT_US:314022009
has db xref: SNOMEDCT_US:416920000
has db xref: UMLS:C0022906
has db xref: UMLS:C1281931
has exact synonym: Blocked tear duct
has exact synonym: Lacrimal duct obstruction
has OBO namespace: human_phenotype
id: HP:0000579
in subset: hposlim core
type: Class
subclass of: HP_0011481
notation: HP:0000579

Pigmentary retinopathy
tree view: HP_0007703
IAO_0000115: An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss.
has alternative id: HP:0001146
has alternative id: HP:0007702
has alternative id: HP:0007821
has alternative id: HP:0007852
has alternative id: HP:0007869
has alternative id: HP:0007934
has alternative id: HP:0007961
has alternative id: HP:0008010
has db xref: MSH:D012174
has db xref: SNOMEDCT_US:28835009
has db xref: UMLS:C0035334
has exact synonym: Pigmentary retinal deposits
has exact synonym: Retinal pigment clumping
has exact synonym: Retinal pigmentary degeneration
has OBO namespace: human_phenotype
id: HP:0000580
type: Class
subclass of: HP_0007703
notation: HP:0000580

Blepharophimosis
tree view: HP_0200007
IAO_0000115: A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures.
has alternative id: HP:0000507
has alternative id: HP:0000513
has db xref: MSH:D016569
has db xref: UMLS:C0005744
has exact synonym: Decreased width of palpebral fissure
has exact synonym: Narrow opening between the eyelids
has OBO namespace: human_phenotype
id: HP:0000581
in subset: hposlim core
type: Class
comment: When the palpebral fissures are severely shortened, they cannot be widely separated, actively or passively.
subclass of: HP_0200007
notation: HP:0000581

Upslanted palpebral fissure
tree view: HP_0200006
IAO_0000115: The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age.
has db xref: SNOMEDCT_US:246799009
has db xref: UMLS:C0423109
has exact synonym: Mongoloid slant
has exact synonym: Upslanting palpebral fissures
has exact synonym: Upward slanted palpebral fissures
has exact synonym: Upward slanting of palpebral fissures
has exact synonym: Upward slanting of the opening between the eyelids
has exact synonym: Upward slanting palpebral fissures
has OBO namespace: human_phenotype
has related synonym: Upslanted palpebral fissures
id: HP:0000582
in subset: hposlim core
type: Class
subclass of: HP_0200006
notation: HP:0000582

HP_0000583
IAO_0000231: IAO_0000227
IAO_0100001: Transient unilateral blurring of vision
type: Class
deprecated: true
notation: HP:0000583

Punctate corneal epithelial erosions
tree view: HP_0200020
has db xref: UMLS:C1832170
has OBO namespace: human_phenotype
id: HP:0000584
type: Class
subclass of: HP_0200020
notation: HP:0000584

Band keratopathy
tree view: HP_0011493
IAO_0000115: An abnormality of the cornea characterized by the deposition of calcium in a band across the central cornea, leading to decreased vision, foreign body sensation, and ocular irritation.
has db xref: MSH:C562399
has db xref: SNOMEDCT_US:35055000
has db xref: UMLS:C0155120
has exact synonym: Calcific band keratopathy
has OBO namespace: human_phenotype
id: HP:0000585
in subset: hposlim core
type: Class
subclass of: HP_0011493
notation: HP:0000585

Shallow orbits
tree view: Proptosis
tree view: HP_3000030
IAO_0000115: Reduced depth of the orbits associated with prominent-appearing ocular globes.
has alternative id: HP:0002706
has db xref: UMLS:C1865244
has exact synonym: Decreased depth of eye sockets
has exact synonym: Decreased depth of orbits
has exact synonym: Shallow eye sockets
has exact synonym: Small shallow orbits
has OBO namespace: human_phenotype
id: HP:0000586
type: Class
subclass of: Proptosis
subclass of: HP_3000030
notation: HP:0000586

Abnormality of the optic nerve
tree view: Abnormal fundus morphology
IAO_0000115: Abnormality of the optic nerve.
has db xref: UMLS:C0029131
has exact synonym: Optic nerve issue
has exact synonym: optic nerve abnormalities
has OBO namespace: human_phenotype
id: HP:0000587
in subset: hposlim core
type: Class
comment: The optic nerve, which is also known as cranial nerve II, transmits visual information from the retina to the brain. The term 'optic disc' is frequently used to describe the portion of the optic nerve clinically visible on fundoscopic examination.
subclass of: Abnormal fundus morphology
notation: HP:0000587

Optic nerve coloboma
tree view: Abnormality of the optic nerve
tree view: Coloboma
IAO_0000115: A cleft of the optic nerve that extends inferiorly.
has alternative id: HP:0007997
has db xref: MSH:C535970
has db xref: SNOMEDCT_US:17541006
has db xref: SNOMEDCT_US:44295002
has db xref: UMLS:C0155299
has exact synonym: Coloboma of optic nerve
has exact synonym: Optic disk coloboma
has OBO namespace: human_phenotype
id: HP:0000588
in subset: hposlim core
type: Class
comment: A congenital, unilateral or bilateral congenital condition caused by incomplete closure of the embryonic fissure.
subclass of: Abnormality of the optic nerve
subclass of: Coloboma
notation: HP:0000588

Coloboma
tree view: HP_0012372
IAO_0000115: A developmental defect characterized by a cleft of some portion of the eye or ocular adnexa.
has alternative id: HP:0007767
has alternative id: HP:0007995
has db xref: Fyler:4311
has db xref: MSH:D003103
has db xref: SNOMEDCT_US:92828000
has db xref: SNOMEDCT_US:93390002
has db xref: UMLS:C0009363
has exact synonym: Notched pupil
has exact synonym: Ocular coloboma
has exact synonym: Ocular colobomas
has OBO namespace: human_phenotype
id: HP:0000589
type: Class
subclass of: HP_0012372
notation: HP:0000589

Progressive external ophthalmoplegia
tree view: External ophthalmoplegia
IAO_0000115: Initial bilateral ptosis followed by limitation of eye movements in all directions and slowing of saccades.
has alternative id: HP:0000562
has db xref: MSH:D017246
has db xref: SNOMEDCT_US:46252003
has db xref: UMLS:C0162674
has exact synonym: External ophthalmoplegia, progressive
has OBO namespace: human_phenotype
id: HP:0000590
type: Class
comment: Progressive external ophthalmoplegia (PEO) can be regarded as a diagnosis, or as a feature of several other syndromes. The latter is the meaning of this term.
subclass of: External ophthalmoplegia
notation: HP:0000590

Abnormal sclera morphology
tree view: HP_0012372
IAO_0000115: An abnormality of the sclera.
has broad synonym: Abnormality of the outer white part of eyeball
has db xref: UMLS:C4025840
has exact synonym: Abnormality of the sclera
has OBO namespace: human_phenotype
id: HP:0000591
in subset: hposlim core
type: Class
subclass of: HP_0012372
notation: HP:0000591

Blue sclerae
tree view: Abnormal sclera morphology
IAO_0000115: An abnormal bluish coloration of the sclera.
has broad synonym: Blue outer white part of eyeball
has db xref: SNOMEDCT_US:204164000
has db xref: UMLS:C0542514
has exact synonym: Blue sclera
has exact synonym: Bluish sclerae
has exact synonym: Whites of eyes are a bluish-gray color
has OBO namespace: human_phenotype
id: HP:0000592
in subset: hposlim core
type: Class
subclass of: Abnormal sclera morphology
notation: HP:0000592

Abnormal anterior chamber morphology
tree view: Abnormal anterior eye segment morphology
IAO_0000115: Abnormality of the anterior chamber, which is the space in the eye that is behind the cornea and in front of the iris.
has db xref: SNOMEDCT_US:204142009
has db xref: UMLS:C3152182
has exact synonym: Abnormality of the anterior chamber
has exact synonym: Anterior chamber anomalies
has exact synonym: Ocular anterior chamber abnormality
has OBO namespace: human_phenotype
id: HP:0000593
in subset: hposlim core
type: Class
subclass of: Abnormal anterior eye segment morphology
notation: HP:0000593

Shallow anterior chamber
tree view: Abnormal anterior chamber morphology
IAO_0000115: Reduced depth of the anterior chamber, i.e., the anteroposterior distance between the cornea and the iris is decreased.
has alternative id: HP:0007756
has db xref: SNOMEDCT_US:246986004
has db xref: UMLS:C0423276
has OBO namespace: human_phenotype
id: HP:0000594
type: Class
subclass of: Abnormal anterior chamber morphology
notation: HP:0000594

HP_0000595
IAO_0000231: IAO_0000227
IAO_0100001: HP_0100704
type: Class
deprecated: true
notation: HP:0000595

HP_0000596
IAO_0000231: IAO_0000227
IAO_0100001: Horner syndrome
type: Class
deprecated: true
notation: HP:0000596

Ophthalmoparesis
tree view: Abnormality of eye movement
IAO_0000115: Ophthalmoplegia is a paralysis or weakness of one or more of the muscles that control eye movement.
has alternative id: HP:0007701
has alternative id: HP:0008044
has db xref: MSH:D009886
has db xref: UMLS:C0751401
has exact synonym: Extraocular muscle palsy
has exact synonym: Extraocular muscle paralysis
has exact synonym: Weakness of extraocular eye movement
has exact synonym: Weakness of muscles controlling eye movement
has OBO namespace: human_phenotype
id: HP:0000597
type: Class
subclass of: Abnormality of eye movement
notation: HP:0000597

Abnormality of the ear
tree view: Phenotypic abnormality
IAO_0000115: An abnormality of the ear.
has db xref: SNOMEDCT_US:275259005
has db xref: UMLS:C0266589
has exact synonym: Abnormality of the ear
has exact synonym: Ear anomaly
has OBO namespace: human_phenotype
id: HP:0000598
in subset: hposlim core
type: Class
comment: Either a morphological abnormality or hearing deficit. This should be split more cleanly in the future.
subclass of: Phenotypic abnormality
notation: HP:0000598

Abnormality of the frontal hairline
tree view: Abnormality of the forehead
tree view: HP_0009553
IAO_0000115: An anomaly in the placement or shape of the hairline (trichion) on the forehead, that is, the border between skin on the forehead that has head hair and that does not.
created by: peter
creation date: 2008-02-27T05:34:00Z
has db xref: UMLS:C4025839
has exact synonym: Abnormality of hairline at front of head
has exact synonym: Abnormality of the frontal hairline
has OBO namespace: human_phenotype
id: HP:0000599
type: Class
subclass of: Abnormality of the forehead
subclass of: HP_0009553
notation: HP:0000599

Abnormality of the pharynx
tree view: Abnormality of the head
IAO_0000115: An anomaly of the pharynx, i.e., of the tubular structure extending from the base of the skull superiorly to the esophageal inlet inferiorly.
has db xref: UMLS:C4025838
has OBO namespace: human_phenotype
id: HP:0000600
type: Class
comment: The pharynx is tubular structure extending from base of skull superiorly to esophageal inlet inferiorly, and is composed of three distinct areas: the nasopharynx, the oropharynx, and the hypopharynx, with the pharyngeal walls being composed of the superior, middle, and inferior pharyngeal constrictor muscles. It is part of the digestive system and of the conducting zone of the respiratory system.
subclass of: Abnormality of the head
notation: HP:0000600

Hypotelorism
tree view: HP_0100886
IAO_0000115: Interpupillary distance less than 2 SD below the mean (alternatively, the appearance of an decreased interpupillary distance or closely spaced eyes).
has alternative id: HP:0007877
has db xref: SNOMEDCT_US:44593008
has db xref: UMLS:C0424711
has exact synonym: Abnormally close eyes
has exact synonym: Closely spaced eyes
has exact synonym: Decreased distance between eye sockets
has exact synonym: Decreased distance between eyes
has exact synonym: Decreased interpupillary distance
has exact synonym: Decreased orbital separation
has exact synonym: Ocular hypotelorism
has OBO namespace: human_phenotype
id: HP:0000601
in subset: hposlim core
type: Class
subclass of: HP_0100886
notation: HP:0000601

Ophthalmoplegia
tree view: Ophthalmoparesis
IAO_0000115: Paralysis of one or more extraocular muscles that are responsible for eye movements.
has db xref: MSH:D009886
has db xref: SNOMEDCT_US:16110005
has db xref: UMLS:C0029089
has exact synonym: Eye muscle paralysis
has exact synonym: Paralysis of extraocular eye movement
has OBO namespace: human_phenotype
id: HP:0000602
type: Class
subclass of: Ophthalmoparesis
notation: HP:0000602

Central scotoma
tree view: Scotoma
IAO_0000115: An area of depressed vision located at the point of fixation and that interferes with central vision.
has broad synonym: Blind spot located at fixation point
has db xref: MSH:D012607
has db xref: SNOMEDCT_US:38950008
has db xref: UMLS:C0152191
has db xref: UMLS:C4280624
has exact synonym: Central blind spot
has exact synonym: Central scotomata
has OBO namespace: human_phenotype
id: HP:0000603
in subset: hposlim core
type: Class
subclass of: Scotoma
notation: HP:0000603

HP_0000604
IAO_0000231: IAO_0000227
IAO_0100001: Abnormal saccadic eye movements
type: Class
deprecated: true
notation: HP:0000604

Supranuclear gaze palsy
tree view: Abnormal conjugate eye movement
IAO_0000115: A supranuclear gaze palsy is an inability to look in a particular direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal.
has db xref: SNOMEDCT_US:420675003
has db xref: UMLS:C1720037
has exact synonym: Supranuclear gaze paralysis
has OBO namespace: human_phenotype
id: HP:0000605
type: Class
subclass of: Abnormal conjugate eye movement
notation: HP:0000605

Abnormality of the periorbital region
tree view: Abnormality of the face
IAO_0000115: An abnormality of the region situated around the orbit of the eye.
has db xref: UMLS:C4025837
has narrow synonym: Abnormality of the region around the eye
has narrow synonym: Abnormality of the region around the eye socket
has narrow synonym: Anomaly of the periorbital region
has narrow synonym: Deformity of the periorbital region
has narrow synonym: Malformation of the periorbital region
has OBO namespace: human_phenotype
id: HP:0000606
type: Class
subclass of: Abnormality of the face
notation: HP:0000606

Periorbital wrinkles
tree view: Abnormality of the periorbital region
tree view: HP_0100678
has db xref: UMLS:C1844605
has exact synonym: Excess periorbital skin wrinkling
has exact synonym: Periorbital rhytids
has exact synonym: Periorbital wrinkling
has exact synonym: Wrinkles around the eyes
has OBO namespace: human_phenotype
id: HP:0000607
type: Class
subclass of: Abnormality of the periorbital region
subclass of: HP_0100678
notation: HP:0000607

Macular degeneration
tree view: Retinal degeneration
tree view: Abnormal macular morphology
IAO_0000115: A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells of the macula lutea.
has alternative id: HP:0007694
has alternative id: HP:0007868
has db xref: SNOMEDCT_US:422338006
has db xref: UMLS:C0024437
has exact synonym: Pigmented macular degeneration
has OBO namespace: human_phenotype
id: HP:0000608
type: Class
subclass of: Retinal degeneration
subclass of: Abnormal macular morphology
notation: HP:0000608

Optic nerve hypoplasia
tree view: Aplasia/Hypoplasia involving the central nervous system
tree view: HP_0008058
IAO_0000115: Underdevelopment of the optic nerve.
has alternative id: HP:0007273
has db xref: SNOMEDCT_US:95499004
has db xref: UMLS:C0338502
has exact synonym: Hypoplastic optic nerves
has exact synonym: Underdeveloped optic nerves
has OBO namespace: human_phenotype
id: HP:0000609
type: Class
subclass of: Aplasia/Hypoplasia involving the central nervous system
subclass of: HP_0008058
notation: HP:0000609

Abnormal choroid morphology
tree view: Abnormal uvea morphology
tree view: Abnormal fundus morphology
IAO_0000115: Any structural abnormality of the choroid.
has alternative id: HP:0001122
has db xref: MSH:D015862
has db xref: UMLS:C0008521
has db xref: UMLS:C4025836
has exact synonym: Abnormality of the choroid
has OBO namespace: human_phenotype
has related synonym: Choroid disease
id: HP:0000610
in subset: hposlim core
type: Class
subclass of: Abnormal uvea morphology
subclass of: Abnormal fundus morphology
notation: HP:0000610

obsolete Choroid coloboma
IAO_0000231: IAO_0000227
IAO_0100001: Chorioretinal coloboma
IAO_0100001: HP:0000567
has OBO namespace: human_phenotype
id: HP:0000611
type: Class
deprecated: true
notation: HP:0000611

Iris coloboma
tree view: Abnormality iris morphology
tree view: Coloboma
IAO_0000115: A coloboma of the iris.
has alternative id: HP:0007744
has alternative id: HP:0007748
has db xref: UMLS:C0240063
has exact synonym: Cat eye
has exact synonym: Coloboma of iris
has exact synonym: Coloboma of the iris
has exact synonym: Keyhole iris
has OBO namespace: human_phenotype
id: HP:0000612
in subset: hposlim core
type: Class
subclass of: Abnormality iris morphology
subclass of: Coloboma
notation: HP:0000612

Photophobia
tree view: Abnormality of vision
tree view: Behavioral abnormality
IAO_0000115: Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.
has db xref: MSH:D020795
has db xref: SNOMEDCT_US:246622003
has db xref: SNOMEDCT_US:409668002
has db xref: UMLS:C0085636
has db xref: UMLS:C4020887
has exact synonym: Extreme sensitivity of the eyes to light
has exact synonym: Light hypersensitivity
has OBO namespace: human_phenotype
has related synonym: Photodysphoria
id: HP:0000613
in subset: hposlim core
type: Class
comment: Note that the term photodysphoria is used to describe extreme photophobia.
subclass of: Abnormality of vision
subclass of: Behavioral abnormality
notation: HP:0000613

Abnormal nasolacrimal system morphology
tree view: HP_0030669
IAO_0000115: An abnormality of the nasolacrimal drainage system, which serves as a conduit for tear flow from the external eye to the nasal cavity.
has db xref: UMLS:C4025835
has exact synonym: Abnormality of the nasolacrimal system
has OBO namespace: human_phenotype
id: HP:0000614
in subset: hposlim core
type: Class
comment: The nasolacrimal system consists of the puncta, canaliculi, lacrimal sac, and nasolacrimal duct.
subclass of: HP_0030669
notation: HP:0000614

Abnormal pupil morphology
tree view: Abnormality iris morphology
IAO_0000115: An abnormality of the pupil.
has alternative id: HP:0008018
has alternative id: HP:0030960
has db xref: SNOMEDCT_US:274093008
has db xref: UMLS:C0154936
has exact synonym: Abnormal pupillary morphology
has exact synonym: Abnormality of the pupil
has exact synonym: Pupillary abnormalities
has exact synonym: Pupillary abnormality
has OBO namespace: human_phenotype
id: HP:0000615
in subset: hposlim core
type: Class
subclass of: Abnormality iris morphology
notation: HP:0000615

Miosis
tree view: HP_0007686
IAO_0000115: Abnormal (non-physiological) constriction of the pupil.
has db xref: MSH:D015877
has db xref: SNOMEDCT_US:63251006
has db xref: UMLS:C0026205
has exact synonym: Constricted pupils
has exact synonym: Pupillary constriction
has OBO namespace: human_phenotype
id: HP:0000616
in subset: hposlim core
type: Class
subclass of: HP_0007686
notation: HP:0000616

Abnormality of ocular smooth pursuit
tree view: Abnormality of eye movement
IAO_0000115: An abnormality of eye movement characterized by impaired smooth-pursuit eye movements.
has alternative id: HP:0007671
has alternative id: HP:0008006
has db xref: UMLS:C1836393
has exact synonym: Abnormal smooth pursuits
has exact synonym: Disrupted ocular pursuit movements
has exact synonym: Impaired smooth pursuit ocular movements
has exact synonym: Irregular visual pursuit movements
has OBO namespace: human_phenotype
id: HP:0000617
type: Class
comment: Tracking eye movements consist of two different components, namely, smooth pursuit and saccades. Smooth pursuit, or just pursuit, is a class of rather slow eye movements that minimizes retinal target motion. Saccades are rapid eye movements that align the fovea with the target. Slow-pursuit eye movements are involved in tracking a slowly moving target after the saccadic system has placed the image of the target on the fovea.
subclass of: Abnormality of eye movement
notation: HP:0000617

Blindness
tree view: HP_0007663
IAO_0000115: Blindness is the condition of lacking visual perception defined as visual perception below 3/60 and/or a visual field of no greater than 10 degress in radius around central fixation.
has alternative id: HP:0007839
has db xref: Fyler:4866
has db xref: MSH:D001766
has db xref: SNOMEDCT_US:65956007
has db xref: UMLS:C0271215
has db xref: UMLS:C0456909
has exact synonym: Blindness
has exact synonym: Total vision loss
has OBO namespace: human_phenotype
has related synonym: Legal blindness
id: HP:0000618
in subset: hposlim core
type: Class
comment: Various scales have been developed to describe the extent of vision loss and define blindness. Total blindness is the complete lack of form and visual light perception and is clinically recorded as NLP (no light perception). Blindness is frequently used to describe severe visual impairment with residual vision. Those described as having only light perception have no more sight than the ability to tell light from dark and the general direction of a light source.
subclass of: HP_0007663
notation: HP:0000618

Impaired convergence
tree view: Abnormal conjugate eye movement
IAO_0000115: Reduced ability to turn the eyes inward in order to focus on a nearby object.
has db xref: MSH:D015835
has db xref: SNOMEDCT_US:194131002
has db xref: UMLS:C0271379
has exact synonym: Convergence insufficiency
has OBO namespace: human_phenotype
id: HP:0000619
type: Class
comment: Vergence alters the angle between the two eyes to adjust for changes in distance from the visual target.
subclass of: Abnormal conjugate eye movement
notation: HP:0000619

Dacryocystitis
tree view: Abnormal nasolacrimal system morphology
IAO_0000115: Inflammation of the nasolacrimal sac.
has db xref: MSH:D003607
has db xref: SNOMEDCT_US:85777005
has db xref: UMLS:C0010930
has exact synonym: Dacrocystitis
has exact synonym: Infection of the lacrimal sac
has OBO namespace: human_phenotype
id: HP:0000620
type: Class
comment: Dacrocystitis is frequently caused by nasolacrimal duct obstruction or infection, which often results from stagnation of tears in a pathologically closed lacrimal drainage system. Note also that dacryocystistis has often been misspelled as dacrocystitis in the literature, but the correct spelling is dacryocystitis.
subclass of: Abnormal nasolacrimal system morphology
notation: HP:0000620

Entropion
tree view: Abnormal eyelid morphology
IAO_0000115: An abnormal inversion (turning inward) of the eyelid (usually the lower) towards the globe. Entropion is usually acquired as a result of involutional or cicatricial processes but may occasionally be congenital.
has broad synonym: Eyelid folded in
has db xref: MSH:D004774
has db xref: SNOMEDCT_US:33168009
has db xref: UMLS:C0014390
has exact synonym: Eyelid turned in
has OBO namespace: human_phenotype
has related synonym: Inverted eyelid
id: HP:0000621
in subset: hposlim core
type: Class
comment: The inward turned eyelid margin increases the potential for mechanical irritation of the eye by eyelashes. Entropion is to be distinguished from epiblepharon.
subclass of: Abnormal eyelid morphology
notation: HP:0000621

Blurred vision
tree view: Abnormality of vision
IAO_0000115: Lack of sharpness of vision resulting in the inability to see fine detail.
has alternative id: HP:0007723
has db xref: SNOMEDCT_US:111516008
has db xref: SNOMEDCT_US:246636008
has db xref: UMLS:C0344232
has exact synonym: Blurred vision
has OBO namespace: human_phenotype
id: HP:0000622
in subset: hposlim core
type: Class
comment: This is a very nonspecific term and it is preferable to describe the correlates of blurred vision with the corresponding terms if possible.
subclass of: Abnormality of vision
notation: HP:0000622

Supranuclear ophthalmoplegia
tree view: Ophthalmoplegia
IAO_0000115: A vertical gaze palsy with inability to direct the gaze of the eyes downwards.
has db xref: UMLS:C1408507
has OBO namespace: human_phenotype
id: HP:0000623
in subset: hposlim core
type: Class
subclass of: Ophthalmoplegia
notation: HP:0000623

HP_0000624
IAO_0000231: IAO_0000227
IAO_0100001: Epicanthus
type: Class
deprecated: true
notation: HP:0000624

Eyelid coloboma
tree view: HP_0011226
IAO_0000115: A short discontinuity of the margin of the lower or upper eyelid.
has db xref: SNOMEDCT_US:95202004
has db xref: UMLS:C0521573
has exact synonym: Cleft eyelid
has exact synonym: Eyelid coloboma
has exact synonym: Full thickness defect of the eyelid
has exact synonym: Notched eyelid
has OBO namespace: human_phenotype
id: HP:0000625
in subset: hposlim core
type: Class
comment: The lateral segment of the lower eyelid is most commonly involved. As the milder forms of this finding are clearly subjective and no boundary of subjective and objective is defined, the term is considered subjective. The term eyelid coloboma has been replaced because the word coloboma should be used only for defects at the site of fusion of embryologic structures, which is not the case here. Modifiers to designate the location of the cleft may be added, such as lower and lateral.
subclass of: HP_0011226
notation: HP:0000625

HP_0000626
IAO_0000231: IAO_0000227
IAO_0100001: HP_0100540
type: Class
deprecated: true
notation: HP:0000626

Posterior embryotoxon
tree view: HP_0008048
IAO_0000115: A posterior embryotoxon is the presence of a prominent and anteriorly displaced line of Schwalbe.
has alternative id: HP:0100740
has db xref: SNOMEDCT_US:253228006
has db xref: SNOMEDCT_US:392437005
has db xref: UMLS:C0344531
has db xref: UMLS:C0546967
has exact synonym: Embryotoxon
has OBO namespace: human_phenotype
id: HP:0000627
in subset: hposlim core
type: Class
comment: Schwalbe's line is the anatomical line found on the interior surface of the cornea, and delineates the outer limit of the corneal endothelium layer. Specifically, it represents the termination of Descemet's membrane. Up to 30% of the population has posterior embryotoxon as an isolated normal variant.
subclass of: HP_0008048
notation: HP:0000627

HP_0000628
IAO_0000231: IAO_0000227
IAO_0100001: Oculomotor apraxia
type: Class
deprecated: true
notation: HP:0000628

Periorbital fullness
tree view: Abnormality of the periorbital region
IAO_0000115: Increase in periorbital soft tissue.
has db xref: UMLS:C1858036
has exact synonym: Periorbital puffiness
has exact synonym: Puffiness around eye
has narrow synonym: Fullness around the eyes
has OBO namespace: human_phenotype
id: HP:0000629
type: Class
subclass of: Abnormality of the periorbital region
notation: HP:0000629

Abnormal retinal artery morphology
tree view: HP_0008046
tree view: HP_0011004
tree view: HP_3000036
has db xref: UMLS:C4021802
has exact synonym: Abnormality of retinal arteries
has exact synonym: Retinal arterial abnormality
has OBO namespace: human_phenotype
id: HP:0000630
type: Class
subclass of: HP_0008046
subclass of: HP_0011004
subclass of: HP_3000036
notation: HP:0000630

Retinal arterial tortuosity
tree view: Abnormal retinal artery morphology
tree view: HP_0005116
tree view: HP_0012841
IAO_0000115: The presence of an increased number of twists and turns of the retinal artery.
has db xref: SNOMEDCT_US:247123003
has db xref: UMLS:C0423401
has exact synonym: Retinal artery tortuousity
has OBO namespace: human_phenotype
id: HP:0000631
in subset: hposlim core
type: Class
subclass of: Abnormal retinal artery morphology
subclass of: HP_0005116
subclass of: HP_0012841
notation: HP:0000631

Lacrimation abnormality
tree view: HP_0012373
IAO_0000115: Abnormality of tear production.
has alternative id: HP:0000521
has db xref: UMLS:C4021801
has exact synonym: Abnormality of tear production
has OBO namespace: human_phenotype
id: HP:0000632
type: Class
subclass of: HP_0012373
notation: HP:0000632

Decreased lacrimation
tree view: Lacrimation abnormality
IAO_0000115: Abnormally decreased lacrimation, that is, reduced ability to produce tears.
has db xref: UMLS:C0235857
has exact synonym: Decreased tear secretion
has OBO namespace: human_phenotype
id: HP:0000633
type: Class
subclass of: Lacrimation abnormality
notation: HP:0000633

Impaired ocular abduction
tree view: HP_0011347
IAO_0000115: An impaired ability of the eye to move in the outward direction (towards the side of the head).
has db xref: UMLS:C1846462
has OBO namespace: human_phenotype
id: HP:0000634
type: Class
subclass of: HP_0011347
notation: HP:0000634

Blue irides
tree view: HP_0008034
IAO_0000115: A markedly blue coloration of the iris.
has db xref: SNOMEDCT_US:301952009
has db xref: UMLS:C0578626
has exact synonym: Blue eyes
has OBO namespace: human_phenotype
id: HP:0000635
type: Class
subclass of: HP_0008034
notation: HP:0000635

Upper eyelid coloboma
tree view: Eyelid coloboma
IAO_0000115: A short discontinuity of the margin of the upper eyelid.
has db xref: UMLS:C1863872
has exact synonym: Cleft upper eyelid
has exact synonym: Coloboma of the upper eyelid
has exact synonym: Full thickness defect of the upper eyelid
has exact synonym: Notched upper eyelid
has exact synonym: Upper eyelid colobomas
has OBO namespace: human_phenotype
id: HP:0000636
type: Class
subclass of: Eyelid coloboma
notation: HP:0000636

Long palpebral fissure
tree view: HP_0200007
IAO_0000115: Distance between medial and lateral canthi is more than two standard deviations above the mean for age (objective); or, apparently increased length of the palpebral fissures.
has alternative id: HP:0007904
has db xref: UMLS:C1849340
has exact synonym: Broad opening between the eyelids
has exact synonym: Broad palpebral fissure
has exact synonym: Long opening between the eyelids
has exact synonym: Long palpebral fissures
has exact synonym: Wide opening between the eyelids
has exact synonym: Wide palpebral fissure
has exact synonym: Wide palpebral fissures
has OBO namespace: human_phenotype
id: HP:0000637
in subset: hposlim core
type: Class
subclass of: HP_0200007
notation: HP:0000637

HP_0000638
IAO_0000231: IAO_0000227
IAO_0100001: HP_0007676
type: Class
deprecated: true
notation: HP:0000638

Nystagmus
tree view: HP_0012547
IAO_0000115: Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
has db xref: MSH:D009759
has db xref: SNOMEDCT_US:563001
has db xref: UMLS:C0028738
has exact synonym: Involuntary, rapid, rhythmic eye movements
has OBO namespace: human_phenotype
id: HP:0000639
in subset: hposlim core
type: Class
subclass of: HP_0012547
notation: HP:0000639

Gaze-evoked nystagmus
tree view: Nystagmus
IAO_0000115: Nystagmus made apparent by looking to the right or to the left.
has db xref: MSH:D009760
has db xref: SNOMEDCT_US:29356006
has db xref: UMLS:C0271390
has OBO namespace: human_phenotype
id: HP:0000640
type: Class
subclass of: Nystagmus
notation: HP:0000640

Dysmetric saccades
tree view: Abnormal saccadic eye movements
IAO_0000115: The controller signal for saccadic eye movements has two components: the pulse that moves the eye rapidly from one point to the next, and the step that holds the eye in the new position. When both the pulse and the step are not the correct size, a dysmetric refixation eye movement results.
has db xref: UMLS:C1836392
has exact synonym: Dysmetric eye movements
has exact synonym: Dysmetric eye saccades
has exact synonym: Uncoordinated eye movement
has OBO namespace: human_phenotype
id: HP:0000641
in subset: hposlim core
type: Class
subclass of: Abnormal saccadic eye movements
notation: HP:0000641

Red-green dyschromatopsia
tree view: HP_0007641
IAO_0000115: Difficulty with discriminating red and green hues.
has alternative id: HP:0007960
has db xref: MSH:D003117
has db xref: SNOMEDCT_US:246674000
has db xref: SNOMEDCT_US:77479002
has db xref: UMLS:C0155016
has db xref: UMLS:C1970168
has exact synonym: Dyschromatopsia with red-green confusion
has exact synonym: Red green color blindness
has OBO namespace: human_phenotype
has related synonym: Red/green color vision defect
id: HP:0000642
type: Class
subclass of: HP_0007641
notation: HP:0000642

Blepharospasm
tree view: HP_0012179
tree view: HP_0031879
IAO_0000115: A focal dystonia that affects the muscles of the eyelids and brow, associated with involuntary recurrent spasm of both eyelids.
has alternative id: HP:0007907
has db xref: MSH:D001764
has db xref: SNOMEDCT_US:59026006
has db xref: UMLS:C0005747
has exact synonym: Eyelid spasm
has exact synonym: Eyelid twitching
has exact synonym: Involuntary closure of eyelid
has exact synonym: Spontaneous closure of eyelid
has OBO namespace: human_phenotype
id: HP:0000643
type: Class
subclass of: HP_0012179
subclass of: HP_0031879
notation: HP:0000643

HP_0000644
IAO_0000231: IAO_0000227
IAO_0100001: Proptosis
type: Class
deprecated: true
notation: HP:0000644

HP_0000645
IAO_0000231: IAO_0000227
IAO_0100001: Proptosis
type: Class
deprecated: true
notation: HP:0000645

Amblyopia
tree view: HP_0007663
IAO_0000115: Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways.
has db xref: MSH:D000550
has db xref: SNOMEDCT_US:387742006
has db xref: UMLS:C0002418
has exact synonym: Lazy eye
has exact synonym: Wandering eye
has exact synonym: Wandering eyes
has OBO namespace: human_phenotype
id: HP:0000646
in subset: hposlim core
type: Class
comment: Ambylopia can result from visual deprivation during the critical period of development of visual abilities which lasts to about the age of 8 years. Thus, ambylopia can result from strabismus, anisometropia, or high hypermetropia in there is a failure to form a focused image in one or both eyes.
subclass of: HP_0007663
notation: HP:0000646

Sclerocornea
tree view: HP_0007957
IAO_0000115: A congenital anomaly in which a part or the whole of the cornea acquires the characteristics of sclera, resulting in clouding of the cornea.
has db xref: MSH:C565209
has db xref: UMLS:C1853235
has exact synonym: Hardening of skin and connective tissue
has OBO namespace: human_phenotype
id: HP:0000647
in subset: hposlim core
type: Class
subclass of: HP_0007957
notation: HP:0000647

Optic atrophy
tree view: HP_0012795
IAO_0000115: Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.
has alternative id: HP:0007751
has alternative id: HP:0007855
has db xref: MSH:D009896
has db xref: SNOMEDCT_US:76976005
has db xref: UMLS:C0029124
has exact synonym: Optic nerve atrophy
has exact synonym: Optic-nerve degeneration
has OBO namespace: human_phenotype
id: HP:0000648
in subset: hposlim core
type: Class
comment: The diagnosis of optic atrophy is made when the optic disc loses its normal orange-pink color. Optic atrophy is an end stage that arises from myriad causes of optic nerve damage anywhere along the path from the retina to the lateral geniculate. Some of the most common etiologies are advanced glaucoma, optic neuritis, arteritic or non-arteritic ischaemic optic neuropathy or a compressive lesion.
subclass of: HP_0012795
notation: HP:0000648

Abnormality of visual evoked potentials
tree view: HP_0030453
IAO_0000115: An anomaly of visually evoked potentials (VEP), which are electrical potentials, initiated by brief visual stimuli, which are recorded from the scalp overlying the visual cortex.
has db xref: SNOMEDCT_US:102968003
has db xref: UMLS:C0522214
has exact synonym: Abnormal vision evoked potentials
has exact synonym: Abnormal visual evoked potential
has exact synonym: Abnormal visual evoked responses
has exact synonym: Abnormal visual-evoked potentials
has exact synonym: VEP abnormalities
has OBO namespace: human_phenotype
id: HP:0000649
in subset: hposlim core
type: Class
comment: The terms visually evoked potential (VEP), visually evoked response (VER) and visually evoked cortical potential (VECP) are equivalent.
subclass of: HP_0030453
notation: HP:0000649

Abnormal amplitude of pattern reversal visual evoked potentials
tree view: HP_0100289
has db xref: UMLS:C4025834
has OBO namespace: human_phenotype
id: HP:0000650
type: Class
subclass of: HP_0100289
notation: HP:0000650

Diplopia
tree view: HP_0011514
IAO_0000115: Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision.
has db xref: MSH:D004172
has db xref: SNOMEDCT_US:24982008
has db xref: UMLS:C0012569
has exact synonym: Double vision
has OBO namespace: human_phenotype
id: HP:0000651
in subset: hposlim core
type: Class
subclass of: HP_0011514
notation: HP:0000651

Lower eyelid coloboma
tree view: Eyelid coloboma
IAO_0000115: A short discontinuity of the margin of the lower eyelid.
has alternative id: HP:0007909
has db xref: UMLS:C1837826
has exact synonym: Cleft lower eyelid
has exact synonym: Coloboma of lower eyelid
has exact synonym: Full thickness defect of the lower eyelid
has exact synonym: Lower lid coloboma
has exact synonym: Notched lower eyelid
has OBO namespace: human_phenotype
id: HP:0000652
type: Class
subclass of: Eyelid coloboma
notation: HP:0000652

Sparse eyelashes
tree view: HP_0008070
tree view: HP_0200102
IAO_0000115: Decreased density/number of eyelashes.
has alternative id: HP:0002284
has alternative id: HP:0004519
has alternative id: HP:0004531
has alternative id: HP:0004555
has alternative id: HP:0004777
has alternative id: HP:0007853
has db xref: UMLS:C1843300
has exact synonym: Hypotrichosis of eyelashes
has exact synonym: Partial absence of eyelashes
has exact synonym: Scant eyelashes
has exact synonym: Scanty eyelashes
has exact synonym: Sparse eyelashes
has exact synonym: Thin eyelashes
has OBO namespace: human_phenotype
id: HP:0000653
in subset: hposlim core
type: Class
subclass of: HP_0008070
subclass of: HP_0200102
notation: HP:0000653

Decreased light- and dark-adapted electroretinogram amplitude
tree view: HP_0008323
IAO_0000115: Descreased amplitude of eletrical response upon electroretinography.
has alternative id: HP:0007636
has alternative id: HP:0007689
has alternative id: HP:0007845
has db xref: UMLS:C1839025
has exact synonym: Decreased ERG amplitude
has exact synonym: Decreased amplitudes on flash visual electroretinogram
has exact synonym: Decreased electroretinogram
has exact synonym: Decreased electroretinogram amplitude
has exact synonym: Decreased electroretinogram response
has exact synonym: Flattened or absent electroretinogram
has exact synonym: Reduced ERG
has exact synonym: Reduced electroretinogram
has exact synonym: Reduced or abolished electroretinogram
has OBO namespace: human_phenotype
id: HP:0000654
type: Class
subclass of: HP_0008323
notation: HP:0000654

obsolete Vitreoretinal degeneration
IAO_0000231: IAO_0000227
IAO_0100001: HP_0007773
IAO_0100001: HP:0007773
has OBO namespace: human_phenotype
id: HP:0000655
type: Class
deprecated: true
notation: HP:0000655

Ectropion
tree view: Abnormal eyelid morphology
IAO_0000115: An outward turning (eversion) or rotation of the eyelid margin.
has broad synonym: Eyelid folded out
has db xref: MSH:D004483
has db xref: SNOMEDCT_US:127559009
has db xref: SNOMEDCT_US:62909004
has db xref: UMLS:C0013592
has exact synonym: Eyelid turned out
has OBO namespace: human_phenotype
has related synonym: Everted eyelid
id: HP:0000656
in subset: hposlim core
type: Class
comment: Ectropion is frequently associated wit overexposure of the palpebral and scleral conjunctiva and cornea. It usually involves the lower eyelid.
subclass of: Abnormal eyelid morphology
notation: HP:0000656

Oculomotor apraxia
tree view: Abnormality of eye movement
tree view: Apraxia
IAO_0000115: Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancellation of the vestibulo-ocular reflex.
has alternative id: HP:0000628
has alternative id: HP:0007764
has db xref: MSH:C537423
has db xref: SNOMEDCT_US:193662007
has db xref: UMLS:C3489733
has db xref: UMLS:C4020886
has exact synonym: Ocular motor apraxia
has OBO namespace: human_phenotype
has related synonym: Defective or absent horizontal voluntary eye movements
id: HP:0000657
in subset: hposlim core
type: Class
comment: Oculomotor apraxia leads defective or absent horizontal voluntary eye movements with head thrusting to look at objects to the side as well as jerky, abnormal eye movements.
subclass of: Abnormality of eye movement
subclass of: Apraxia
notation: HP:0000657

Eyelid apraxia
tree view: Apraxia
tree view: HP_0031879
has db xref: SNOMEDCT_US:423142006
has db xref: UMLS:C1142448
has exact synonym: Difficulty opening the eyelids
has OBO namespace: human_phenotype
id: HP:0000658
type: Class
subclass of: Apraxia
subclass of: HP_0031879
notation: HP:0000658

Peters anomaly
tree view: HP_0007700
IAO_0000115: A form of anterior segment dysgenesis in which abnormal cleavage of the anterior chamber occurs. Peters anomaly is characterized by central, paracentral, or complete corneal opacity.
has db xref: MSH:C537884
has db xref: SNOMEDCT_US:204153003
has db xref: UMLS:C0344559
has OBO namespace: human_phenotype
id: HP:0000659
in subset: hposlim core
type: Class
subclass of: HP_0007700
notation: HP:0000659

Lipemia retinalis
tree view: HP_0008046
IAO_0000115: A creamy appearance of the retinal blood vessels that occurs when the concentration of lipids in the blood are extremely increased, with pale pink to milky white retinal vessels and altered pale reflexes from choroidal vasculature.
has db xref: SNOMEDCT_US:95692001
has db xref: UMLS:C0339477
has OBO namespace: human_phenotype
id: HP:0000660
type: Class
comment: Lipemia retinalis is thought to be directly correlated with the serum triglyceride level; typically, the retinal findings do not occur until the triglyceride level reaches 2500 mg per deciliter (28.2 mmol per liter).
subclass of: HP_0008046
notation: HP:0000660

Palpebral fissure narrowing on adduction
tree view: Blepharophimosis
has db xref: UMLS:C1846465
has OBO namespace: human_phenotype
id: HP:0000661
type: Class
subclass of: Blepharophimosis
notation: HP:0000661

Nyctalopia
tree view: Abnormality of vision
IAO_0000115: Inability to see well at night or in poor light.
has alternative id: HP:0007653
has alternative id: HP:0007725
has alternative id: HP:0007865
has alternative id: HP:0007895
has db xref: MSH:D009755
has db xref: SNOMEDCT_US:65194006
has db xref: UMLS:C0028077
has db xref: UMLS:C4020885
has exact synonym: Night blindness
has exact synonym: Night-blindness
has exact synonym: Poor night vision
has OBO namespace: human_phenotype
has related synonym: Difficulties with night vision
id: HP:0000662
in subset: hposlim core
type: Class
subclass of: Abnormality of vision
notation: HP:0000662

HP_0000663
IAO_0000231: IAO_0000227
IAO_0100001: Deeply set eye
type: Class
deprecated: true
notation: HP:0000663

Synophrys
tree view: Abnormal eyebrow morphology
tree view: Facial hypertrichosis
IAO_0000115: Meeting of the medial eyebrows in the midline.
has alternative id: HP:0002210
has db xref: SNOMEDCT_US:253207002
has db xref: UMLS:C0431447
has exact synonym: Monobrow
has exact synonym: Synophris
has exact synonym: Unibrow
has OBO namespace: human_phenotype
id: HP:0000664
in subset: hposlim core
type: Class
subclass of: Abnormal eyebrow morphology
subclass of: Facial hypertrichosis
notation: HP:0000664

HP_0000665
IAO_0000231: IAO_0000227
IAO_0100001: Ectopia lentis
type: Class
deprecated: true
notation: HP:0000665

Horizontal nystagmus
tree view: Nystagmus
IAO_0000115: Nystagmus consisting of horizontal to-and-fro eye movements.
has db xref: MSH:D009759
has db xref: SNOMEDCT_US:81756001
has db xref: UMLS:C0271385
has exact synonym: Nystagmus, horizontal
has OBO namespace: human_phenotype
id: HP:0000666
in subset: hposlim core
type: Class
subclass of: Nystagmus
notation: HP:0000666

Phthisis bulbi
tree view: HP_0012372
IAO_0000115: Atrophy of the eyeball with blindness and decreased intraocular pressure due to end-stage intraocular disease.
has db xref: SNOMEDCT_US:4229009
has db xref: UMLS:C0271007
has OBO namespace: human_phenotype
id: HP:0000667
in subset: hposlim core
type: Class
comment: Phthisis bulbi refers to atrophy and degeneration of a blind eye.
subclass of: HP_0012372
notation: HP:0000667

Hypodontia
tree view: HP_0009804
IAO_0000115: A developmental anomaly characterized by a reduced number of teeth, whereby up to 6 teeth are missing.
has db xref: MSH:D000848
has db xref: SNOMEDCT_US:64969001
has db xref: UMLS:C0020608
has exact synonym: Failure of development of between one and six teeth
has OBO namespace: human_phenotype
has related synonym: Missing between one and six teeth
id: HP:0000668
in subset: hposlim core
type: Class
comment: Hypodontia refers to a reduced number of primary or permanent teeth. Hypodontia may affect either both primary and permanent teeth or only the permanent teeth. Wisdom teeth (the third secondary maxillary and mandibular molar teeth) are not included in this count.
subclass of: HP_0009804
notation: HP:0000668

HP_0000669
IAO_0000231: IAO_0000227
IAO_0100001: Widely-spaced maxillary central incisors
type: Class
deprecated: true
notation: HP:0000669

Carious teeth
tree view: HP_0011061
IAO_0000115: Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries.
has alternative id: HP:0006295
has alternative id: HP:0006306
has db xref: MSH:D003731
has db xref: SNOMEDCT_US:80967001
has db xref: UMLS:C0011334
has db xref: UMLS:C4280623
has exact synonym: Caries
has exact synonym: Cariosity of teeth
has exact synonym: Dental caries
has exact synonym: Dental cavities
has exact synonym: Early dental caries
has exact synonym: Frequent caries
has exact synonym: Tooth cavities
has exact synonym: Tooth decay
has OBO namespace: human_phenotype
has related synonym: Dental decay
has related synonym: Rotting teeth
id: HP:0000670
in subset: hposlim core
type: Class
comment: It should be noted that it is not always possible to rule out environmental influences and that reports of association between hereditary diseases and susceptibility to dental caries should be regarded with caution.
subclass of: HP_0011061
notation: HP:0000670

HP_0000671
IAO_0000231: IAO_0000227
IAO_0100001: HP_0006297
type: Class
deprecated: true
notation: HP:0000671

HP_0000672
IAO_0000231: IAO_0000227
IAO_0100001: HP_0011069
type: Class
deprecated: true
notation: HP:0000672

HP_0000673
IAO_0000231: IAO_0000227
IAO_0100001: HP_0011065
type: Class
deprecated: true
notation: HP:0000673

Anodontia
tree view: HP_0009804
IAO_0000115: The congenital absence of all teeth.
has alternative id: HP:0006484
has db xref: MSH:D000848
has db xref: SNOMEDCT_US:16958000
has db xref: SNOMEDCT_US:26624006
has db xref: UMLS:C0399352
has db xref: UMLS:C4280622
has exact synonym: Anodontia vera
has exact synonym: Complete agenesis of all teeth
has exact synonym: Dental agenesis
has exact synonym: Failure of development of all teeth
has narrow synonym: Complete anodontia
has narrow synonym: Total anodontia
has OBO namespace: human_phenotype
has related synonym: Missing all teeth
has related synonym: Total absence of all teeth
id: HP:0000674
type: Class
comment: Anodontia can affect both primary and permanent teeth. Alternatively, there can be anodontia of just the permanent teeth. Anodontia must be distinguished from non-erupted teeth.
subclass of: HP_0009804
notation: HP:0000674

Macrodontia of permanent maxillary central incisor
tree view: HP_0011081
IAO_0000115: Increased size of the maxillary central secondary incisor tooth.
has broad synonym: Hyperplasia of permanent maxillary central incisor
has broad synonym: Hypertrophy of permanent maxillary central incisor
has broad synonym: Increased size of permanent maxillary central incisor
has broad synonym: Increased size of permanent upper central incisor
has broad synonym: Large permanent maxillary central incisor
has broad synonym: Large permanent upper central incisor
has db xref: UMLS:C1835095
has db xref: UMLS:C4280263
has db xref: UMLS:C4280620
has db xref: UMLS:C4280621
has exact synonym: Increased width of permanent maxillary central incisor
has exact synonym: Increased width of permanent upper central incisor
has exact synonym: Long maxillary central incisors
has exact synonym: Prominent upper incisors
has exact synonym: Prominent, protruding upper incisors
has OBO namespace: human_phenotype
id: HP:0000675
type: Class
subclass of: HP_0011081
notation: HP:0000675

Abnormality of the incisor
tree view: Abnormality of the dentition
IAO_0000115: An abnormality of the Incisor tooth.
has alternative id: HP:0006340
has db xref: UMLS:C4025833
has OBO namespace: human_phenotype
id: HP:0000676
type: Class
subclass of: Abnormality of the dentition
notation: HP:0000676

Oligodontia
tree view: HP_0009804
IAO_0000115: A developmental anomaly characterized by a reduced number of teeth, whereby more than 6 teeth are missing.
has alternative id: HP:0000702
has db xref: UMLS:C4082304
has db xref: UMLS:C4280619
has exact synonym: Failure of development of more than six teeth
has exact synonym: Partial anodontia
has OBO namespace: human_phenotype
has related synonym: Missing more than six teeth
has related synonym: Number of teeth decreased by more than six
id: HP:0000677
type: Class
comment: The diagnosis of oligodontia requires a radiograph, as is true for anodontia and for the other designation of tooth agenesis, hypodontia. The terms hypodontia and oligodontia are sometimes used interchangeably in the literature while on other occasions hypodontia is used for selective agenesis of six or less missing teeth while oligodontia is applied when there are more than six missing teeth. Tooth agenesis or oligodontia/hypodontia can be mistaken for delayed eruption and again a radiograph is needed for diagnosis. Absence of teeth may be congenital (tooth agenesis) or acquired. The incidence of congenital absence of teeth is different depending on the type and position of the tooth [Gorlin et al, 2001].
subclass of: HP_0009804
notation: HP:0000677

Dental crowding
tree view: Misalignment of teeth
IAO_0000115: Overlapping teeth within an alveolar ridge.
has broad synonym: Inadequate arch length for tooth size
has broad synonym: Tooth mass arch size discrepancy
has broad synonym: Tooth size discrepancy
has db xref: MSH:D008310
has db xref: SNOMEDCT_US:12351004
has db xref: SNOMEDCT_US:699222000
has db xref: UMLS:C0040433
has db xref: UMLS:C1317785
has db xref: UMLS:C4280617
has db xref: UMLS:C4280618
has exact synonym: Crowded teeth
has exact synonym: Dental crowding
has exact synonym: Dental overcrowding
has exact synonym: Overcrowding of teeth
has OBO namespace: human_phenotype
id: HP:0000678
in subset: hposlim core
type: Class
subclass of: Misalignment of teeth
notation: HP:0000678

Taurodontia
tree view: HP_0006479
tree view: HP_0006486
tree view: HP_0011071
IAO_0000115: Increased volume of dental pulp of permanent molar.
has db xref: MSH:C536946
has db xref: SNOMEDCT_US:51744007
has db xref: UMLS:C0266039
has db xref: UMLS:C4280616
has exact synonym: Taurodont
has exact synonym: Taurodontism
has OBO namespace: human_phenotype
has related synonym: Large elongated pulp chamber
id: HP:0000679
in subset: hposlim core
type: Class
comment: Body of the tooth and pulp chamber is enlarged.
subclass of: HP_0006479
subclass of: HP_0006486
subclass of: HP_0011071
notation: HP:0000679

Delayed eruption of primary teeth
tree view: Delayed eruption of teeth
tree view: HP_0006481
IAO_0000115: Delayed tooth eruption affecting the primary dentition.
has db xref: UMLS:C1849538
has exact synonym: Delayed eruption of baby teeth
has exact synonym: Delayed eruption of deciduous teeth
has exact synonym: Delayed eruption of milk teeth
has exact synonym: Delayed primary teeth eruption
has exact synonym: Late eruption of baby teeth
has exact synonym: Late eruption of milk teeth
has exact synonym: Late eruption of primary teeth
has OBO namespace: human_phenotype
id: HP:0000680
type: Class
subclass of: Delayed eruption of teeth
subclass of: HP_0006481
notation: HP:0000680

HP_0000681
IAO_0000231: IAO_0000227
IAO_0100001: HP_0006349
type: Class
deprecated: true
notation: HP:0000681

Abnormality of dental enamel
tree view: HP_0011061
tree view: HP_3000050
IAO_0000115: An abnormality of the dental enamel.
has alternative id: HP:0006322
has db xref: UMLS:C4021800
has db xref: UMLS:C4280262
has db xref: UMLS:C4280615
has exact synonym: Abnormal tooth enamel
has exact synonym: Enamel abnormalities
has exact synonym: Enamel abnormality
has narrow synonym: Defective tooth enamel
has narrow synonym: Dystrophic tooth enamel
has narrow synonym: Malformation of dental enamel
has narrow synonym: Malformation of tooth enamel
has OBO namespace: human_phenotype
id: HP:0000682
in subset: hposlim core
type: Class
comment: The dental enamel is the external layer of the teeth, being a highly mineralized substance consisting primarily of hydroxylapatite.
subclass of: HP_0011061
subclass of: HP_3000050
notation: HP:0000682

Grayish enamel
tree view: Abnormality of dental enamel
tree view: HP_0011073
IAO_0000115: A grey discoloration of the dental enamel.
has db xref: UMLS:C1854783
has exact synonym: Gray colored tooth enamel
has exact synonym: Gray tooth shade
has exact synonym: Grayish enamel
has exact synonym: Greyish enamel
has OBO namespace: human_phenotype
id: HP:0000683
type: Class
comment: Grey enamel may be seen in dentinogenesis imperfecta, but dentinogenesis imperfecta should be coded separately if present.
subclass of: Abnormality of dental enamel
subclass of: HP_0011073
notation: HP:0000683

Delayed eruption of teeth
tree view: HP_0006292
IAO_0000115: Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age.
has alternative id: HP:0000686
has alternative id: HP:0006294
has alternative id: HP:0006314
has alternative id: HP:0006328
has db xref: SNOMEDCT_US:5639000
has db xref: UMLS:C0239174
has exact synonym: Delayed dental development
has exact synonym: Delayed dental eruption
has exact synonym: Delayed eruption
has exact synonym: Delayed eruption of teeth
has exact synonym: Delayed teeth eruption
has exact synonym: Delayed tooth eruption
has exact synonym: Eruption, delayed
has exact synonym: Late eruption of teeth
has exact synonym: Late tooth eruption
has OBO namespace: human_phenotype
id: HP:0000684
in subset: hposlim core
type: Class
comment: This term should not be used in a patient with Gingival overgrowth. There are established norms for the timing of eruption in both deciduous and permanent teeth [Garn and Rohmann, [1966]; Lunt and Law, [1974]; McDonald et al. [2004]]. Eruption is defined by the appearance of a tooth that has pierced the gum.
subclass of: HP_0006292
notation: HP:0000684

Hypoplasia of teeth
tree view: HP_0011061
IAO_0000115: Developmental hypoplasia of teeth.
has alternative id: HP:0000688
has alternative id: HP:0006281
has alternative id: HP:0006307
has broad synonym: Decreased size of teeth
has broad synonym: Underdevelopment of teeth
has db xref: UMLS:C0235357
has db xref: UMLS:C4280611
has exact synonym: Hypoplastic teeth
has OBO namespace: human_phenotype
id: HP:0000685
type: Class
subclass of: HP_0011061
notation: HP:0000685

HP_0000686
IAO_0000231: IAO_0000227
IAO_0100001: Delayed eruption of teeth
type: Class
deprecated: true
notation: HP:0000686

Widely spaced teeth
tree view: Misalignment of teeth
IAO_0000115: Increased spaces (diastemata) between most of the teeth in the same dental arch.
has db xref: UMLS:C1844813
has exact synonym: Generalized dental spacing
has exact synonym: Generalized spacing of teeth
has exact synonym: Multiple diastemata
has exact synonym: Wide-spaced teeth
has exact synonym: Widely spaced teeth
has exact synonym: Widely-spaced teeth
has OBO namespace: human_phenotype
id: HP:0000687
in subset: hposlim core
type: Class
comment: Wide spacing can be secondary to increased room by an unusually large dental arch, microdontia or mixed primary and secondary dentition. It should be carefully noted that slight spacing between the primary teeth is normal, so experience in evaluation is important in determining this feature. This descriptor must be distinguished from Diastema.
subclass of: Misalignment of teeth
notation: HP:0000687

HP_0000688
IAO_0000231: IAO_0000227
IAO_0100001: Hypoplasia of teeth
type: Class
deprecated: true
notation: HP:0000688

Dental malocclusion
tree view: Misalignment of teeth
IAO_0000115: Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns.
has db xref: MSH:D008310
has db xref: SNOMEDCT_US:47944004
has db xref: SNOMEDCT_US:707598004
has db xref: UMLS:C0024636
has db xref: UMLS:C4280613
has db xref: UMLS:C4280614
has exact synonym: Bad bite
has exact synonym: Bilateral crossbite
has exact synonym: Bilateral crossbite malocclusion
has exact synonym: Incorrect relation between upper and lower dental arches
has exact synonym: Malalignment of upper and lower dental arches
has exact synonym: Malocclusion
has exact synonym: Malocclusion of teeth
has exact synonym: Misalignment of upper and lower dental arches
has narrow synonym: Angle class 2 malocclusion
has narrow synonym: Angle class 3 malocclusion
has OBO namespace: human_phenotype
id: HP:0000689
type: Class
subclass of: Misalignment of teeth
notation: HP:0000689

Agenesis of maxillary lateral incisor
tree view: HP_0200153
tree view: HP_0200160
IAO_0000115: Agenesis of one or more maxillary lateral incisor, comprising the maxillary lateral primary incisor and maxillary lateral secondary incisor.
has db xref: UMLS:C1849950
has db xref: UMLS:C4083046
has exact synonym: Absent upper lateral incisors
has exact synonym: Failure of development of maxillary lateral incisor
has OBO namespace: human_phenotype
has related synonym: Absence of maxillary lateral incisor
has related synonym: Absence of upper lateral incisor
has related synonym: Missing maxillary lateral incisor
has related synonym: Missing upper lateral incisor
id: HP:0000690
type: Class
subclass of: HP_0200153
subclass of: HP_0200160
notation: HP:0000690

Microdontia
tree view: HP_0006482
IAO_0000115: Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth.
has broad synonym: Decreased size of tooth
has broad synonym: Hypotrophic tooth
has broad synonym: Small tooth
has db xref: SNOMEDCT_US:32337007
has db xref: UMLS:C0240340
has db xref: UMLS:C4280611
has db xref: UMLS:C4280612
has exact synonym: Decreased width of tooth
has exact synonym: Small teeth
has OBO namespace: human_phenotype
id: HP:0000691
in subset: hposlim core
type: Class
comment: Standard reference has means and standard deviations by gender [Moyers et al, 1976]. It is easy to measure the width of teeth, for which reason the definition of microdontia can be made with reference to the width of the tooth. However, microdontia means that the overall size of the tooth is decreased. In microdontia, the gaps between the teeth, particularly the anterior upper and lower teeth, are increased, creating diastemata. This should be assessed and coded separately.
subclass of: HP_0006482
notation: HP:0000691

Misalignment of teeth
tree view: Abnormality of the dentition
IAO_0000115: Abnormal alignment, positioning, or spacing of the teeth, i.e., misaligned teeth.
has alternative id: HP:0000693
has alternative id: HP:0001569
has alternative id: HP:0006303
has alternative id: HP:0006478
has broad synonym: Abnormality of position of teeth
has db xref: UMLS:C1852504
has db xref: UMLS:C4280610
has exact synonym: Abnormal dental position
has exact synonym: Abnormal teeth spacing
has exact synonym: Abnormality of alignment of teeth
has exact synonym: Abnormality of teeth spacing
has exact synonym: Crooked teeth
has exact synonym: Malaligned teeth
has exact synonym: Malposition of teeth
has exact synonym: Malpositioned teeth
has exact synonym: Misalignment of teeth
has OBO namespace: human_phenotype
id: HP:0000692
type: Class
subclass of: Abnormality of the dentition
notation: HP:0000692

HP_0000693
IAO_0000231: IAO_0000227
IAO_0100001: Misalignment of teeth
type: Class
deprecated: true
notation: HP:0000693

Shell teeth
tree view: Dentinogenesis imperfecta
IAO_0000115: A type of dental dysplasia occurring in dentinogenesis imperfecta in which the pulp chambers are enlarged and there is a reduced amount of coronal dentin.
has db xref: SNOMEDCT_US:67504007
has db xref: UMLS:C2981132
has exact synonym: Teeth with dentinal dysplasia
has exact synonym: Teeth with thin dentin and large pulp chambers
has exact synonym: Teeth with type iii dentinogenesis imperfecta
has OBO namespace: human_phenotype
id: HP:0000694
type: Class
subclass of: Dentinogenesis imperfecta
notation: HP:0000694

Natal tooth
tree view: HP_0006288
IAO_0000115: Erupted tooth or teeth at birth.
has db xref: MSH:D009306
has db xref: SNOMEDCT_US:21995002
has db xref: SNOMEDCT_US:58748004
has db xref: UMLS:C0027443
has exact synonym: Born with teeth
has exact synonym: Natal teeth
has exact synonym: Neonatal teeth
has exact synonym: Teeth present at birth
has OBO namespace: human_phenotype
id: HP:0000695
in subset: hposlim core
type: Class
subclass of: HP_0006288
notation: HP:0000695

Delayed eruption of permanent teeth
tree view: Delayed eruption of teeth
IAO_0000115: Delayed tooth eruption affecting the secondary dentition.
has db xref: UMLS:C1849540
has exact synonym: Delayed eruption of adult teeth
has exact synonym: Delayed eruption of permanent teeth
has exact synonym: Delayed eruption of secondary dentition
has exact synonym: Delayed eruption of secondary teeth
has exact synonym: Delayed permanent dentition
has OBO namespace: human_phenotype
id: HP:0000696
type: Class
subclass of: Delayed eruption of teeth
notation: HP:0000696

HP_0000697
IAO_0000231: IAO_0000227
IAO_0100001: HP_0006482
type: Class
deprecated: true
notation: HP:0000697

Conical tooth
tree view: HP_0006482
IAO_0000115: An abnormal conical form of the teeth, that is, a tooth whose sides converge or taper together incisally.
has db xref: SNOMEDCT_US:29553002
has db xref: UMLS:C0266037
has db xref: UMLS:C4012359
has exact synonym: Cone shaped tooth
has exact synonym: Conoid tooth
has exact synonym: Peg shaped teeth
has exact synonym: Peg tooth
has exact synonym: Peg-shaped teeth
has exact synonym: Shark tooth
has OBO namespace: human_phenotype
has related synonym: Conical teeth
has related synonym: Peg shaped tooth
has related synonym: Pointed tooth
id: HP:0000698
in subset: hposlim core
type: Class
subclass of: HP_0006482
notation: HP:0000698

Diastema
tree view: Misalignment of teeth
IAO_0000115: Increased space between two adjacent teeth in the same dental arch.
has broad synonym: Gaps between teeth
has db xref: MSH:D003970
has db xref: SNOMEDCT_US:35591002
has db xref: UMLS:C0011998
has exact synonym: Dental diastasis
has exact synonym: Dental diastema
has exact synonym: Diastasis of the teeth
has exact synonym: Diastema of the teeth
has exact synonym: Gap between teeth
has OBO namespace: human_phenotype
id: HP:0000699
in subset: hposlim core
type: Class
comment: Usually there is contact between the lateral aspects of the permanent teeth, at their broadest point. Diastema can apply to any pair of teeth and the term should be modified by a descriptor of the involved teeth. This descriptor must be distinguished from Widely spaced teeth.
subclass of: Misalignment of teeth
notation: HP:0000699

Periapical bone loss
tree view: Abnormality of the dentition
IAO_0000115: Radiolucency (reflecting a reduction in the bony substance) around the apex (the tip of the dental root).
has db xref: MSH:D010484
has db xref: MSH:D011842
has db xref: SNOMEDCT_US:81407003
has db xref: SNOMEDCT_US:89988002
has db xref: UMLS:C0031029
has db xref: UMLS:C0034543
has db xref: UMLS:C1852169
has db xref: UMLS:C4280609
has exact synonym: Dark spot around tooth root on x-ray
has exact synonym: Periapical lesion
has OBO namespace: human_phenotype
has related synonym: Bone loss around tooth root
has related synonym: Periapical cyst
has related synonym: Periapical granuloma
has related synonym: Periapical radiolucencies
has related synonym: Periapical radiolucency
id: HP:0000700
type: Class
comment: Periapical radiolucencies can be seen with periapical granuloma, cysts, ameloblastoma, odotogenic keratatoycsts, and other lesions.
subclass of: Abnormality of the dentition
notation: HP:0000700

HP_0000701
IAO_0000231: IAO_0000227
IAO_0100001: HP_0006480
type: Class
deprecated: true
notation: HP:0000701

HP_0000702
IAO_0000231: IAO_0000227
IAO_0100001: Oligodontia
type: Class
deprecated: true
notation: HP:0000702

Dentinogenesis imperfecta
tree view: HP_0010299
tree view: HP_3000050
IAO_0000115: Developmental dysplasia of dentin.
has db xref: MSH:D003811
has db xref: SNOMEDCT_US:196286005
has db xref: UMLS:C0011436
has OBO namespace: human_phenotype
id: HP:0000703
in subset: hposlim core
type: Class
comment: This term is kept for convenience since it is often used to refer to the phenotype of discolored, fragile teeth in the medical literature. Dentinogenesis imperfecta is a disorder of tooth development. This condition causes the teeth to be discolored (most often a blue-gray or yellow-brown color) and translucent. Teeth are also weaker than normal, making them prone to rapid wear, breakage, and loss.
subclass of: HP_0010299
subclass of: HP_3000050
notation: HP:0000703

Periodontitis
tree view: Abnormality of the dentition
tree view: Abnormality of the gingiva
tree view: HP_0012649
IAO_0000115: Inflammation of the periodontium.
has alternative id: HP:0000165
has alternative id: HP:0006301
has broad synonym: Gum disease
has broad synonym: Periodontal disease
has db xref: MSH:D005882
has db xref: MSH:D010510
has db xref: MSH:D010518
has db xref: SNOMEDCT_US:18718003
has db xref: SNOMEDCT_US:2556008
has db xref: SNOMEDCT_US:41565005
has db xref: UMLS:C0017563
has db xref: UMLS:C0031090
has db xref: UMLS:C0031099
has exact synonym: Pyorrhea
has OBO namespace: human_phenotype
id: HP:0000704
in subset: hposlim core
type: Class
subclass of: Abnormality of the dentition
subclass of: Abnormality of the gingiva
subclass of: HP_0012649
notation: HP:0000704

Amelogenesis imperfecta
tree view: Abnormality of dental enamel
IAO_0000115: A developmental dysplasia of the dental enamel.
has alternative id: HP:0006284
has alternative id: HP:0006310
has alternative id: HP:0006325
has alternative id: HP:0006327
has alternative id: HP:0006331
has db xref: MSH:D000567
has db xref: SNOMEDCT_US:78494001
has db xref: UMLS:C0002452
has OBO namespace: human_phenotype
id: HP:0000705
in subset: hposlim core
type: Class
comment: Amelogenesis imperfecta (AI) is a term for a clinically and genetically heterogeneous group of diseases that affect the dental enamel, occasionally in conjunction with other dental, oral and extraoral tissues. This term has often been used to describe the phenotype associated with AI, but for new annotations it is recommended to describe the individual manifestations.
subclass of: Abnormality of dental enamel
notation: HP:0000705

Unerupted tooth
tree view: HP_0006292
IAO_0000115: The presence of one or more embedded tooth germs which have failed to erupt.
has broad synonym: Unerupted dentition
has db xref: SNOMEDCT_US:109542004
has db xref: UMLS:C1290587
has exact synonym: Failure of eruption of tooth
has exact synonym: Pseudo-anodontia
has exact synonym: Pseudoanodontia
has exact synonym: Unerupted tooth
has OBO namespace: human_phenotype
id: HP:0000706
type: Class
subclass of: HP_0006292
notation: HP:0000706

Abnormality of the nervous system
tree view: Phenotypic abnormality
IAO_0000115: An abnormality of the nervous system.
has alternative id: HP:0001333
has alternative id: HP:0006987
has broad synonym: Brain and/or spinal cord issue
has db xref: MSH:D009421
has db xref: SNOMEDCT_US:88425004
has db xref: UMLS:C0497552
has exact synonym: Abnormality of the nervous system
has exact synonym: Neurologic abnormalities
has exact synonym: Neurological abnormality
has OBO namespace: human_phenotype
id: HP:0000707
type: Class
comment: The nervous system comprises the neuraxis (brain, spinal cord, and ventricles), the autonomic nervous system, the enteric nervous system, and the peripheral nervous system.
subclass of: Phenotypic abnormality
notation: HP:0000707

Behavioral abnormality
tree view: HP_0012638
IAO_0000115: An abnormality of mental functioning including various affective, behavioural, cognitive and perceptual abnormalities.
has alternative id: HP:0000715
has alternative id: HP:0002368
has alternative id: HP:0002456
has db xref: MSH:D000066553
has db xref: MSH:D001526
has db xref: SNOMEDCT_US:25786006
has db xref: SNOMEDCT_US:277843001
has db xref: UMLS:C0004941
has db xref: UMLS:C0233514
has exact synonym: Behavioral abnormality
has exact synonym: Behavioral changes
has exact synonym: Behavioral disorders
has exact synonym: Behavioral disturbances
has exact synonym: Behavioral problems
has exact synonym: Behavioral/psychiatric abnormalities
has exact synonym: Behavioural/Psychiatric abnormality
has exact synonym: Psychiatric disorders
has exact synonym: Psychiatric disturbances
has OBO namespace: human_phenotype
has related synonym: Behavioral symptoms
id: HP:0000708
type: Class
subclass of: HP_0012638
notation: HP:0000708

Psychosis
tree view: Behavioral abnormality
IAO_0000115: A condition characterized by changes of personality and thought patterns often accompanied by hallucinations and delusional beliefs.
has db xref: MSH:D011618
has db xref: SNOMEDCT_US:69322001
has db xref: UMLS:C0033975
has exact synonym: Psychosis
has OBO namespace: human_phenotype
id: HP:0000709
type: Class
subclass of: Behavioral abnormality
notation: HP:0000709

Hyperorality
tree view: Behavioral abnormality
IAO_0000115: A tendency or compulsion to examine objects by mouth.
has db xref: UMLS:C1838320
has exact synonym: Hyperoralia
has OBO namespace: human_phenotype
id: HP:0000710
type: Class
subclass of: Behavioral abnormality
notation: HP:0000710

Restlessness
tree view: Behavioral abnormality
IAO_0000115: A state of unease characterized by diffuse motor activity or motion subject to limited control, nonproductive or disorganized behavior, and subjective distress.
has db xref: SNOMEDCT_US:162221009
has db xref: UMLS:C3887611
has exact synonym: Restlessness
has OBO namespace: human_phenotype
id: HP:0000711
type: Class
subclass of: Behavioral abnormality
notation: HP:0000711

Emotional lability
tree view: HP_0031466
IAO_0000115: Unstable emotional experiences and frequent mood changes; emotions that are easily aroused, intense, and/or out of proportion to events and circumstances.
has alternative id: HP:0008766
has db xref: SNOMEDCT_US:18963009
has db xref: UMLS:C0085633
has exact synonym: Emotional instability
has OBO namespace: human_phenotype
id: HP:0000712
type: Class
subclass of: HP_0031466
notation: HP:0000712

Agitation
tree view: Restlessness
IAO_0000115: A state of exceeding restlessness and excessive motor activity associated with mental distress or a feeling of inner tension.
has db xref: SNOMEDCT_US:24199005
has db xref: UMLS:C0085631
has OBO namespace: human_phenotype
id: HP:0000713
type: Class
subclass of: Restlessness
notation: HP:0000713

HP_0000714
IAO_0000231: IAO_0000227
IAO_0100001: HP_0008765
type: Class
deprecated: true
notation: HP:0000714

HP_0000715
IAO_0000231: IAO_0000227
IAO_0100001: Behavioral abnormality
type: Class
deprecated: true
notation: HP:0000715

Depressivity
tree view: HP_0031466
IAO_0000115: Frequent feelings of being down, miserable, and/or hopeless; difficulty recovering from such moods; pessimism about the future; pervasive shame; feeling of inferior self-worth; thoughts of suicide and suicidal behavior.
has db xref: MSH:D003866
has db xref: SNOMEDCT_US:21061000119107
has db xref: SNOMEDCT_US:35489007
has db xref: SNOMEDCT_US:78667006
has db xref: UMLS:C0011581
has exact synonym: Depression
has OBO namespace: human_phenotype
has related synonym: Depressive disorder
id: HP:0000716
type: Class
subclass of: HP_0031466
notation: HP:0000716

Autism
tree view: Autistic behavior
IAO_0000115: Autism is a neurodevelopmental disorder characterized by impaired social interaction and communication, and by restricted and repetitive behavior. Autism begins in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual (DSM-IV).
has db xref: MSH:D001321
has db xref: SNOMEDCT_US:408856003
has db xref: SNOMEDCT_US:408857007
has db xref: SNOMEDCT_US:43614003
has db xref: UMLS:C0004352
has exact synonym: Autism
has OBO namespace: human_phenotype
id: HP:0000717
type: Class
comment: The term refers to the diagnosis of autism and is left for convenience. However, it is preferable to annotate the exact phenotypic abnormalities rather than merely the diagnostic category autism.
subclass of: Autistic behavior
notation: HP:0000717

Aggressive behavior
tree view: HP_0006919
IAO_0000115: Aggressive behavior can denote verbal aggression, physical aggression against objects, physical aggression against people, and may also include aggression towards oneself.
has db xref: MSH:D000374
has db xref: SNOMEDCT_US:248004009
has db xref: SNOMEDCT_US:61372001
has db xref: UMLS:C0001807
has db xref: UMLS:C0424323
has db xref: UMLS:C1457883
has exact synonym: Aggression
has exact synonym: Aggressive behavior
has exact synonym: Aggressive behaviour
has exact synonym: Aggressiveness
has OBO namespace: human_phenotype
has related synonym: physical aggression
id: HP:0000718
type: Class
subclass of: HP_0006919
notation: HP:0000718

Inappropriate behavior
tree view: HP_0031466
has db xref: SNOMEDCT_US:112082005
has db xref: UMLS:C0233522
has exact synonym: Inappropriate behavior
has OBO namespace: human_phenotype
id: HP:0000719
type: Class
subclass of: HP_0031466
notation: HP:0000719

Mood swings
tree view: HP_0100851
IAO_0000115: An exaggeration of emotional affects such as laughing crying, or yawning beyond what the person feels.
has db xref: SNOMEDCT_US:18963009
has db xref: UMLS:C0085633
has exact synonym: Mood swings
has OBO namespace: human_phenotype
id: HP:0000720
type: Class
subclass of: HP_0100851
notation: HP:0000720

Lack of spontaneous play
tree view: Behavioral abnormality
has db xref: UMLS:C1837650
has exact synonym: Lack of spontaneous play
has OBO namespace: human_phenotype
id: HP:0000721
type: Class
subclass of: Behavioral abnormality
notation: HP:0000721

Obsessive-compulsive behavior
tree view: Behavioral abnormality
IAO_0000115: Recurrent obsessions or compulsions that are severe enough to be time consuming (i.e., they take more than 1 hour a day) or cause marked distress or significant impairment (DSM-IV).
has db xref: MSH:D003192
has db xref: MSH:D009771
has db xref: SNOMEDCT_US:12479006
has db xref: SNOMEDCT_US:191736004
has db xref: UMLS:C0028768
has db xref: UMLS:C0600104
has exact synonym: Obsessive compulsive behavior
has exact synonym: Obsessive-compulsive behavior
has OBO namespace: human_phenotype
has related synonym: OCD
has related synonym: Obsessive compulsive disorder
has related synonym: Obsessive-compulsive disorder
id: HP:0000722
type: Class
subclass of: Behavioral abnormality
notation: HP:0000722

Restrictive behavior
tree view: Autistic behavior
IAO_0000115: Behavior characterized by an abnormal limitation to few interests and activities.
has db xref: UMLS:C2675334
has db xref: UMLS:C4021799
has exact synonym: Restricted behavior
has exact synonym: Restrictive behaviour
has OBO namespace: human_phenotype
has related synonym: Restrictive behavior, interests, and activities
id: HP:0000723
type: Class
subclass of: Autistic behavior
notation: HP:0000723

HP_0000724
IAO_0000231: IAO_0000227
IAO_0100001: Polyphagia
type: Class
deprecated: true
notation: HP:0000724

Psychotic episodes
tree view: Psychosis
has db xref: UMLS:C0338614
has exact synonym: Psychotic episodes
has OBO namespace: human_phenotype
id: HP:0000725
type: Class
subclass of: Psychosis
notation: HP:0000725

Dementia
tree view: Mental deterioration
IAO_0000115: A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior.
has alternative id: HP:0002274
has alternative id: HP:0007122
has alternative id: HP:0007150
has alternative id: HP:0007283
has db xref: MSH:D003704
has db xref: SNOMEDCT_US:52448006
has db xref: UMLS:C0497327
has exact synonym: Dementia
has exact synonym: Dementia, progressive
has exact synonym: Progressive dementia
has OBO namespace: human_phenotype
id: HP:0000726
type: Class
subclass of: Mental deterioration
notation: HP:0000726

Frontal lobe dementia
tree view: Dementia
has db xref: SNOMEDCT_US:278857002
has db xref: UMLS:C0338455
has OBO namespace: human_phenotype
id: HP:0000727
type: Class
subclass of: Dementia
notation: HP:0000727

Impaired ability to form peer relationships
tree view: Impaired social interactions
has db xref: UMLS:C1837649
has OBO namespace: human_phenotype
id: HP:0000728
type: Class
subclass of: Impaired social interactions
notation: HP:0000728

Autistic behavior
tree view: Behavioral abnormality
IAO_0000115: Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior.
has db xref: MSH:D000067877
has db xref: UMLS:C0856975
has db xref: UMLS:C1510586
has exact synonym: ASD
has exact synonym: Autistic behaviour
has exact synonym: Pervasive developmental disorder
has OBO namespace: human_phenotype
has related synonym: Autism spectrum disorder
has related synonym: Autism spectrum disorders
has related synonym: Autistic behaviors
id: HP:0000729
type: Class
comment: This term can be used to refer to autism spectrum disorder as a phenotypic feature that can be a component of a disease. Autism spectrum disorder range from a severe form, called autistic disorder, to a milder form, Asperger syndrome.
subclass of: Behavioral abnormality
notation: HP:0000729

HP_0000730
IAO_0000231: IAO_0000227
IAO_0100001: Intellectual disability
type: Class
deprecated: true
notation: HP:0000730

HP_0000731
IAO_0000231: IAO_0000227
IAO_0100001: Confusion
type: Class
deprecated: true
notation: HP:0000731

Inflexible adherence to routines or rituals
tree view: Behavioral abnormality
has db xref: UMLS:C1837653
has OBO namespace: human_phenotype
id: HP:0000732
type: Class
subclass of: Behavioral abnormality
notation: HP:0000732

Stereotypy
tree view: Involuntary movements
IAO_0000115: A stereotypy is a repetitive, simple movement that can be voluntarily suppressed. Stereotypies are typically simple back-and-forth movements such as waving of flapping the hands or arms, and they do not involve complex sequences or movement fragments. Movement is often but not always rhythmic and may involve fingers, wrists, or more proximal portions of the upper extremity. The lower extremity is not typically involved. Stereotypies are more commonly bilateral than unilateral.
has alternative id: HP:0008758
has alternative id: HP:0008759
has db xref: MSH:D013239
has db xref: MSH:D019956
has db xref: SNOMEDCT_US:5507002
has db xref: SNOMEDCT_US:84328007
has db xref: UMLS:C0038271
has db xref: UMLS:C0038273
has exact synonym: Repetitive movements
has exact synonym: Repetitive or self-injurious behavior
has exact synonym: Stereotyped behavior
has exact synonym: Stereotyped, repetitive behaviour
has exact synonym: Stereotypic behavior
has exact synonym: Stereotypic behaviors
has exact synonym: Stereotypical motor behaviors
has exact synonym: Sterotyped behavior
has OBO namespace: human_phenotype
has related synonym: Stereotyped behaviors
id: HP:0000733
type: Class
comment: An abnormality of behavior characterized by one or more stereotyped and restricted patterns of behavior such as inflexible adherence to specific, nonfunctional routines or rituals, stereotyped and repetitive motor mannerisms (e.g., hand or finger flapping or twisting, or complex whole-body movements), or persistent preoccupation with parts of objects. The behaviour does not serve an observable goal. In general the movements are not aimed at the environment, but at the person itself. Stereotypical behaviour is seen especially in children with sensory, intellectual and/or cognitive handicaps.
subclass of: Involuntary movements
notation: HP:0000733

Disinhibition
tree view: HP_0031466
IAO_0000115: A lack of restraint manifested in several ways, including disregard for social conventions, impulsivity, and poor risk assessment.
has db xref: SNOMEDCT_US:247977003
has db xref: UMLS:C0424296
has exact synonym: Disinhibition
has OBO namespace: human_phenotype
id: HP:0000734
type: Class
comment: Disinhibition affects motor, instinctual, emotional, cognitive and perceptual aspects with signs and symptoms similar to the diagnostic criteria for mania. Hypersexuality, hyperphagia, and aggressive outbursts are indicative of disinhibited instinctual drives.
subclass of: HP_0031466
notation: HP:0000734

Impaired social interactions
tree view: Autistic behavior
tree view: HP_0012433
IAO_0000115: Difficulty in social interactions related to an impairment of characteristics such as eye contact, smiling, appropriate facial expressions, and body postures and characterized by difficulty in forming peer relationships and forming friendships.
has db xref: MSH:D000067404
has db xref: SNOMEDCT_US:88598008
has db xref: UMLS:C0150080
has exact synonym: Impaired social interaction
has exact synonym: Impaired social interactions
has exact synonym: Poor social interactions
has OBO namespace: human_phenotype
id: HP:0000735
type: Class
subclass of: Autistic behavior
subclass of: HP_0012433
notation: HP:0000735

Short attention span
tree view: Behavioral abnormality
IAO_0000115: Reduced attention span characterized by distractibility and impulsivity but not necessarily satisfying the diagnostic criteria for attention deficit hyperactivity disorder.
has broad synonym: Easily distracted
has db xref: SNOMEDCT_US:247762003
has db xref: UMLS:C0262630
has exact synonym: Poor attention span
has exact synonym: Problem paying attention
has exact synonym: Short attention span
has OBO namespace: human_phenotype
id: HP:0000736
type: Class
subclass of: Behavioral abnormality
notation: HP:0000736

Irritability
tree view: HP_0100851
has db xref: UMLS:C2700617
has exact synonym: Irritability
has exact synonym: Irritable
has OBO namespace: human_phenotype
id: HP:0000737
type: Class
subclass of: HP_0100851
notation: HP:0000737

Hallucinations
tree view: Behavioral abnormality
IAO_0000115: Perceptions in a conscious and awake state in the absence of external stimuli which have qualities of real perception, in that they are vivid, substantial, and located in external objective space.
has db xref: MSH:D006212
has db xref: SNOMEDCT_US:7011001
has db xref: UMLS:C0018524
has db xref: UMLS:C0235153
has exact synonym: Hallucination
has exact synonym: Hallucinations
has exact synonym: Sensory hallucination
has OBO namespace: human_phenotype
id: HP:0000738
type: Class
subclass of: Behavioral abnormality
notation: HP:0000738

Anxiety
tree view: HP_0100852
IAO_0000115: Intense feelings of nervousness, tenseness, or panic, often in reaction to interpersonal stresses; worry about the negative effects of past unpleasant experiences and future negative possibilities; feeling fearful, apprehensive, or threatened by uncertainty; fears of falling apart or losing control.
has db xref: MSH:D001007
has db xref: SNOMEDCT_US:48694002
has db xref: UMLS:C0003467
has db xref: UMLS:C4020884
has exact synonym: Anxiety
has exact synonym: Anxiousness
has exact synonym: Excessive, persistent worry and fear
has OBO namespace: human_phenotype
has related synonym: Anxiety disease
id: HP:0000739
type: Class
subclass of: HP_0100852
notation: HP:0000739

Episodic paroxysmal anxiety
tree view: Anxiety
IAO_0000115: Recurrent attacks of severe anxiety, whose occurence is not restricted to any particular situation or set of circumstances and is therefore unpredictable.
has db xref: UMLS:C1854339
has OBO namespace: human_phenotype
id: HP:0000740
type: Class
comment: An anxiety attack may manifest with one or more of the following symptoms: (i) breathing difficulty; (ii) palpitations; (iii) a feeling of unreality; (iv) pains or tightness in the chest; (v) trembling, dizziness or feeling unsteady; (vi) sweating; (vii) a feeling of faintness; (viii) a fear of dying; (ix) a feeling of losing control; (x) tingling in hands and feet (parasthesiae); (xi) choking or smothering feelings.
subclass of: Anxiety
notation: HP:0000740

Apathy
tree view: Diminished motivation
has db xref: MSH:D057565
has db xref: SNOMEDCT_US:20602000
has db xref: UMLS:C0085632
has exact synonym: Lack of feeling, emotion, interest
has OBO namespace: human_phenotype
id: HP:0000741
type: Class
subclass of: Diminished motivation
notation: HP:0000741

Self-mutilation
tree view: HP_0100716
has db xref: MSH:D012652
has db xref: SNOMEDCT_US:130968006
has db xref: UMLS:C0036601
has exact synonym: Deliberate self-harm
has exact synonym: Self mutilation
has exact synonym: Self-mutilation
has OBO namespace: human_phenotype
id: HP:0000742
type: Class
subclass of: HP_0100716
notation: HP:0000742

Frontal release signs
tree view: HP_0100022
IAO_0000115: Primitive reflexes traditionally held to be a sign of disorders that affect the frontal lobes.
has alternative id: HP:0006911
has db xref: UMLS:C1833297
has exact synonym: Frontal release reflexes
has OBO namespace: human_phenotype
id: HP:0000743
type: Class
subclass of: HP_0100022
notation: HP:0000743

Low frustration tolerance
tree view: Behavioral abnormality
IAO_0000115: The feeling of frustration can be defined as an emotional reaction that occurs if a desired goal is not achieved. Frustration intolerance is defined as an age-inappropriate response to frustration characterized by crying or temper tantrums (in children) or aggressive or other undesirable behaviors.
has db xref: UMLS:C0548883
has OBO namespace: human_phenotype
id: HP:0000744
type: Class
subclass of: Behavioral abnormality
notation: HP:0000744

Diminished motivation
tree view: HP_0100851
IAO_0000115: A reduction in goal-directed behavior, that is, motivation, the determinant of behavior and adaptation that allows individuals to get started, be energized to perform a sustained and directed action.
has db xref: SNOMEDCT_US:277521002
has db xref: UMLS:C0456814
has exact synonym: Diminished motivation
has exact synonym: Lack of motivation
has OBO namespace: human_phenotype
id: HP:0000745
type: Class
subclass of: HP_0100851
notation: HP:0000745

Delusions
tree view: Behavioral abnormality
IAO_0000115: A belief that is pathological and is held despite evidence to the contrary.
has db xref: MSH:D003702
has db xref: SNOMEDCT_US:2073000
has db xref: UMLS:C0011253
has exact synonym: Delusions
has OBO namespace: human_phenotype
id: HP:0000746
type: Class
subclass of: Behavioral abnormality
notation: HP:0000746

HP_0000747
IAO_0000231: IAO_0000227
IAO_0100001: Memory impairment
type: Class
deprecated: true
notation: HP:0000747

Inappropriate laughter
tree view: Inappropriate behavior
has db xref: SNOMEDCT_US:247985007
has db xref: UMLS:C0424304
has exact synonym: Inappropriate laughter
has OBO namespace: human_phenotype
id: HP:0000748
type: Class
subclass of: Inappropriate behavior
notation: HP:0000748

Paroxysmal bursts of laughter
tree view: Inappropriate laughter
has db xref: UMLS:C1839749
has exact synonym: Paroxysmal laughter
has OBO namespace: human_phenotype
id: HP:0000749
type: Class
subclass of: Inappropriate laughter
notation: HP:0000749

Delayed speech and language development
tree view: HP_0012758
IAO_0000115: A degree of language development that is significantly below the norm for a child of a specified age.
has alternative id: HP:0002116
has alternative id: HP:0002117
has alternative id: HP:0002336
has alternative id: HP:0002399
has alternative id: HP:0002498
has alternative id: HP:0006936
has alternative id: HP:0007004
has alternative id: HP:0007127
has alternative id: HP:0007170
has alternative id: HP:0007172
has db xref: MSH:D007805
has db xref: SNOMEDCT_US:162294008
has db xref: SNOMEDCT_US:229721007
has db xref: SNOMEDCT_US:29164008
has db xref: SNOMEDCT_US:62415009
has db xref: UMLS:C0023012
has db xref: UMLS:C0233715
has db xref: UMLS:C0241210
has db xref: UMLS:C0454644
has exact synonym: Deficiency of speech development
has exact synonym: Delayed language development
has exact synonym: Delayed speech
has exact synonym: Delayed speech acquisition
has exact synonym: Delayed speech and language development
has exact synonym: Delayed speech development
has exact synonym: Impaired speech and language development
has exact synonym: Impaired speech development
has exact synonym: Language delay
has exact synonym: Language delayed
has exact synonym: Language development deficit
has exact synonym: Late-onset speech development
has exact synonym: Poor language development
has exact synonym: Speech and language delay
has exact synonym: Speech and language difficulties
has exact synonym: Speech delay
has OBO namespace: human_phenotype
has related synonym: Poor speech acquisition
has related synonym: Poor speech development
has related synonym: Speech difficulties
id: HP:0000750
type: Class
comment: Language delay can be characterized by a failure to meet the developmental milestones for language development, an inability to follow directions, or slow or incomprehensible speech after the age of three years, as well as with severe problems with syntax or articulation.
subclass of: HP_0012758
notation: HP:0000750

Personality changes
tree view: Behavioral abnormality
IAO_0000115: An abnormal shift in patterns of thinking, acting, or feeling.
has db xref: SNOMEDCT_US:102943000
has db xref: SNOMEDCT_US:192073007
has db xref: UMLS:C0240735
has exact synonym: Personality change
has exact synonym: Personality changes
has OBO namespace: human_phenotype
id: HP:0000751
type: Class
comment: This term refers to changes in personality that are perceived as being abnormal. It does not refer to the usual gradual personality changes that tend to accompany aging and certain life situations.
subclass of: Behavioral abnormality
notation: HP:0000751

Hyperactivity
tree view: HP_0100022
IAO_0000115: Hyperactivity is a state of constantly being unusually or abnormally active, including in situations in which it is not appropriate.
has alternative id: HP:0008764
has db xref: MSH:D006948
has db xref: SNOMEDCT_US:44548000
has db xref: UMLS:C0424295
has exact synonym: Hyperactive behavior
has exact synonym: More active than typical
has OBO namespace: human_phenotype
id: HP:0000752
type: Class
subclass of: HP_0100022
notation: HP:0000752

Autism with high cognitive abilities
tree view: Autistic behavior
has db xref: UMLS:C4025832
has OBO namespace: human_phenotype
id: HP:0000753
type: Class
subclass of: Autistic behavior
notation: HP:0000753

HP_0000754
IAO_0000231: IAO_0000227
IAO_0100001: Global developmental delay
type: Class
deprecated: true
notation: HP:0000754

HP_0000755
IAO_0000231: IAO_0000227
IAO_0100001: HP_0007302
type: Class
deprecated: true
notation: HP:0000755

Agoraphobia
tree view: HP_0100852
IAO_0000115: A type of anxiety disorder characterized by avoidance of public places, especially where crowds gather.
has db xref: MSH:D000379
has db xref: SNOMEDCT_US:247830007
has db xref: SNOMEDCT_US:70691001
has db xref: UMLS:C0001818
has exact synonym: Fear of open spaces
has OBO namespace: human_phenotype
id: HP:0000756
type: Class
subclass of: HP_0100852
notation: HP:0000756

Lack of insight
tree view: Behavioral abnormality
has db xref: SNOMEDCT_US:24340004
has db xref: UMLS:C0233824
has exact synonym: Lack of insight
has OBO namespace: human_phenotype
id: HP:0000757
type: Class
subclass of: Behavioral abnormality
notation: HP:0000757

Impaired use of nonverbal behaviors
tree view: Impaired social interactions
IAO_0000115: Reduced ability to use nonverbal behavior for communication, such as eye-to-eye gaze, facial expression, body posture, and gestures.
has db xref: UMLS:C4021798
has exact synonym: Impaired use of nonverbal behaviors
has exact synonym: Impaired use of nonverbal behaviours
has OBO namespace: human_phenotype
id: HP:0000758
type: Class
subclass of: Impaired social interactions
notation: HP:0000758

Abnormal peripheral nervous system morphology
tree view: HP_0012639
IAO_0000115: A structural abnormality of the peripheral nervous system, which is composed of the nerves that lead to or branch off from the central nervous system. This includes the cranial nerves (olfactory and optic nerves are technically part of the central nervous system).
has alternative id: HP:0003483
has db xref: MSH:D010523
has db xref: SNOMEDCT_US:302226006
has db xref: SNOMEDCT_US:42658009
has db xref: UMLS:C0031117
has db xref: UMLS:C4025831
has exact synonym: Abnormal peripheral nervous system morphology
has OBO namespace: human_phenotype
has related synonym: Peripheral nervous system disease
id: HP:0000759
type: Class
comment: The peripheral nervous system is divided into autonomic and somatic components, which both include afferent (sensory) and efferent (motor) nerves.
subclass of: HP_0012639
notation: HP:0000759

HP_0000760
IAO_0000231: IAO_0000227
IAO_0100001: Decreased motor nerve conduction velocity
type: Class
deprecated: true
notation: HP:0000760

HP_0000761
IAO_0000231: IAO_0000227
IAO_0100001: Decreased nerve conduction velocity
type: Class
deprecated: true
notation: HP:0000761

Decreased nerve conduction velocity
tree view: HP_0040129
IAO_0000115: A reduction in the speed at which electrical signals propagate along the axon of a neuron.
has alternative id: HP:0000761
has alternative id: HP:0007118
has alternative id: HP:0007218
has alternative id: HP:0007231
has db xref: UMLS:C1857640
has exact synonym: Decreased NCV
has exact synonym: Decreased nerve conduction velocities
has exact synonym: Delayed nerve conduction velocity
has exact synonym: Reduced nerve conduction velocities
has exact synonym: Slow nerve conduction velocity
has exact synonym: Slowed nerve conduction velocities
has OBO namespace: human_phenotype
id: HP:0000762
type: Class
comment: Nerve conduction velocity is usually measured with surface electrodes placed on the skin over nerves at various locations. Following stimulation at one electrode, the speed at which the signal is propagated to other electrodes is recorded. Abnormal values may suggest demyelination, a conduction block, or axonopathy.
subclass of: HP_0040129
notation: HP:0000762

Sensory neuropathy
tree view: HP_0009830
IAO_0000115: Peripheral neuropathy affecting the sensory nerves.
has alternative id: HP:0003410
has alternative id: HP:0006815
has alternative id: HP:0007043
has alternative id: HP:0007142
has db xref: SNOMEDCT_US:95662005
has db xref: UMLS:C0151313
has exact synonym: Damage to nerves that sense feeling
has exact synonym: Peripheral sensory neuropathy
has OBO namespace: human_phenotype
id: HP:0000763
type: Class
subclass of: HP_0009830
notation: HP:0000763

Peripheral axonal degeneration
tree view: Abnormal peripheral nervous system morphology
IAO_0000115: Progressive deterioration of peripheral axons.
has alternative id: HP:0006787
has alternative id: HP:0006876
has alternative id: HP:0007304
has db xref: UMLS:C4025830
has OBO namespace: human_phenotype
id: HP:0000764
type: Class
comment: This finding is typically demonstrated by nerve biopsy.
subclass of: Abnormal peripheral nervous system morphology
notation: HP:0000764

Abnormality of the thorax
tree view: HP_0009121
IAO_0000115: Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs).
has alternative id: HP:0100655
has db xref: UMLS:C4021797
has exact synonym: Abnormality of the chest
has OBO namespace: human_phenotype
id: HP:0000765
type: Class
subclass of: HP_0009121
notation: HP:0000765

Abnormality of the sternum
tree view: Abnormality of the thorax
IAO_0000115: An anomaly of the sternum, also known as the breastbone.
has alternative id: HP:0000780
has alternative id: HP:0006586
has alternative id: HP:0006594
has alternative id: HP:0006605
has alternative id: HP:0006630
has alternative id: HP:0006708
has db xref: UMLS:C1860493
has exact synonym: Abnormality of the sternum
has exact synonym: Pectus carinatum or pectus excavatum
has exact synonym: Pectus deformities
has exact synonym: Pectus deformity
has exact synonym: Pectus excavatum or carinatum
has exact synonym: Pectus excavatum or pectus carinatum
has exact synonym: Pectus excavatum/carinatum
has exact synonym: Sternal anomalies
has OBO namespace: human_phenotype
id: HP:0000766
in subset: hposlim core
type: Class
subclass of: Abnormality of the thorax
notation: HP:0000766

Pectus excavatum
tree view: Abnormality of the sternum
IAO_0000115: A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance.
has alternative id: HP:0006613
has alternative id: HP:0006617
has db xref: SNOMEDCT_US:391987005
has db xref: UMLS:C2051831
has exact synonym: Funnel chest
has OBO namespace: human_phenotype
id: HP:0000767
in subset: hposlim core
type: Class
subclass of: Abnormality of the sternum
notation: HP:0000767

Pectus carinatum
tree view: Abnormality of the sternum
IAO_0000115: A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum.
has alternative id: HP:0006639
has db xref: MSH:D066166
has db xref: SNOMEDCT_US:205101001
has db xref: UMLS:C0158731
has exact synonym: Pigeon chest
has OBO namespace: human_phenotype
id: HP:0000768
in subset: hposlim core
type: Class
subclass of: Abnormality of the sternum
notation: HP:0000768

Abnormality of the breast
tree view: Phenotypic abnormality
IAO_0000115: An abnormality of the breast.
has db xref: UMLS:C4025829
has exact synonym: Abnormality of the breast
has OBO namespace: human_phenotype
id: HP:0000769
in subset: hposlim core
type: Class
subclass of: Phenotypic abnormality
notation: HP:0000769

HP_0000770
IAO_0000231: IAO_0000227
IAO_0100001: Gynecomastia
type: Class
deprecated: true
notation: HP:0000770

Gynecomastia
tree view: HP_0031093
IAO_0000115: Abnormal development of large mammary glands in males resulting in breast enlargement.
has alternative id: HP:0000770
has db xref: MSH:D006177
has db xref: SNOMEDCT_US:4754008
has db xref: UMLS:C0018418
has exact synonym: Enlarged male breast
has exact synonym: Gynaecomastia
has OBO namespace: human_phenotype
id: HP:0000771
in subset: hposlim core
type: Class
subclass of: HP_0031093
notation: HP:0000771

Abnormality of the ribs
tree view: Abnormality of the rib cage
IAO_0000115: An anomaly of the rib.
has alternative id: HP:0006618
has db xref: UMLS:C1842083
has exact synonym: Abnormality of the ribs
has exact synonym: Rib abnormalities
has exact synonym: Rib anomalies
has OBO namespace: human_phenotype
id: HP:0000772
in subset: hposlim core
type: Class
subclass of: Abnormality of the rib cage
notation: HP:0000772

Short ribs
tree view: HP_0006712
IAO_0000115: Reduced rib length.
has alternative id: HP:0000899
has alternative id: HP:0000908
has alternative id: HP:0009750
has db xref: SNOMEDCT_US:249696007
has db xref: UMLS:C0426817
has exact synonym: Hypoplastic ribs
has exact synonym: Rib hypoplasia
has exact synonym: Short ribs
has OBO namespace: human_phenotype
id: HP:0000773
type: Class
subclass of: HP_0006712
notation: HP:0000773

Narrow chest
tree view: HP_0005257
IAO_0000115: Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder.
has alternative id: HP:0000909
has alternative id: HP:0005252
has alternative id: HP:0006588
has db xref: SNOMEDCT_US:249671009
has db xref: UMLS:C0426790
has exact synonym: Low chest circumference
has exact synonym: Narrow chest
has exact synonym: Narrow shoulders
has exact synonym: Narrow thorax
has exact synonym: Reduced anterior-posterior chest diameter
has OBO namespace: human_phenotype
id: HP:0000774
type: Class
subclass of: HP_0005257
notation: HP:0000774

Abnormality of the diaphragm
tree view: Abnormality of the musculature
IAO_0000115: Any abnormality of the diaphragm, the sheet of skeletal muscle that separates the thoracic cavity from the abdominal cavity.
has alternative id: HP:0005204
has db xref: UMLS:C1848873
has exact synonym: Abnormality of the diaphragm
has exact synonym: Diaphragm issues
has exact synonym: Diaphragmatic defect
has OBO namespace: human_phenotype
id: HP:0000775
type: Class
subclass of: Abnormality of the musculature
notation: HP:0000775

Congenital diaphragmatic hernia
tree view: Abnormality of the diaphragm
tree view: HP_0100790
IAO_0000115: The presence of a hernia of the diaphragm present at birth.
has alternative id: HP:0006604
has db xref: MSH:D065630
has db xref: SNOMEDCT_US:17190001
has db xref: UMLS:C0235833
has exact synonym: Diaphragmatic hernia
has OBO namespace: human_phenotype
id: HP:0000776
type: Class
comment: Diaphragmatic hernia is the result of a developmental defect causing an abnormal opening in the diaphragm, through which abdominal organs (stomach, spleen, liver, and intestines) can protrude into the thoracic cavity. This usually causes respiratory distress in the newborn period.
subclass of: Abnormality of the diaphragm
subclass of: HP_0100790
notation: HP:0000776

Abnormality of the thymus
tree view: Abnormality of the endocrine system
tree view: HP_0100763
IAO_0000115: Abnormality of the thymus, an organ located in the upper anterior portion of the chest cavity just behind the sternum and whose main function is to provide an environment for T lymphocyte maturation.
has db xref: SNOMEDCT_US:93297002
has db xref: UMLS:C0262650
has db xref: UMLS:C0685891
has exact synonym: Abnormality of the thymus
has exact synonym: Thymic hypoplasia
has OBO namespace: human_phenotype
id: HP:0000777
type: Class
subclass of: Abnormality of the endocrine system
subclass of: HP_0100763
notation: HP:0000777

Hypoplasia of the thymus
tree view: HP_0010515
IAO_0000115: Underdevelopment of the thymus.
has db xref: SNOMEDCT_US:93297002
has db xref: UMLS:C0685891
has db xref: UMLS:C4228227
has exact synonym: Small thymus
has exact synonym: Thymus hypoplasia
has OBO namespace: human_phenotype
id: HP:0000778
type: Class
subclass of: HP_0010515
notation: HP:0000778

HP_0000779
IAO_0000231: IAO_0000227
IAO_0100001: HP_0006610
type: Class
deprecated: true
notation: HP:0000779

HP_0000780
IAO_0000231: IAO_0000227
IAO_0100001: Abnormality of the sternum
type: Class
deprecated: true
notation: HP:0000780

HP_0000781
IAO_0000231: IAO_0000227
IAO_0100001: Barrel-shaped chest
type: Class
deprecated: true
notation: HP:0000781

Abnormality of the scapula
tree view: Abnormality of the thorax
IAO_0000115: Any abnormality of the scapula, also known as the shoulder blade.
has db xref: UMLS:C4025828
has exact synonym: Abnormality of the shoulder blade
has OBO namespace: human_phenotype
id: HP:0000782
in subset: hposlim core
type: Class
subclass of: Abnormality of the thorax
notation: HP:0000782

HP_0000783
IAO_0000231: IAO_0000227
IAO_0100001: Scapular winging
type: Class
deprecated: true
notation: HP:0000783

HP_0000784
IAO_0000231: IAO_0000227
IAO_0100001: Breast hypoplasia
type: Class
deprecated: true
notation: HP:0000784

HP_0000785
IAO_0000231: IAO_0000227
IAO_0100001: Renal agenesis
type: Class
deprecated: true
notation: HP:0000785

Primary amenorrhea
tree view: Amenorrhea
has db xref: SNOMEDCT_US:8913004
has db xref: UMLS:C0232939
has OBO namespace: human_phenotype
id: HP:0000786
type: Class
subclass of: Amenorrhea
notation: HP:0000786

Nephrolithiasis
tree view: HP_0012210
IAO_0000115: The presence of calculi (stones) in the kidneys.
has alternative id: HP:0000102
has db xref: MSH:D053040
has db xref: UMLS:C0392525
has exact synonym: Kidney stones
has exact synonym: Renal calculi
has exact synonym: Renal stones
has OBO namespace: human_phenotype
id: HP:0000787
type: Class
comment: Urinary stone disease is caused by supersaturation of the urine by stone forming substances including calcium, oxalate, and uric acid. Crystals or foreign bodies can act as a nidus for further stone formation. THe resulting kidney stones (calculi) lead to symptoms if they become impacted in the ureter.
subclass of: HP_0012210
notation: HP:0000787

HP_0000788
IAO_0000231: IAO_0000227
IAO_0100001: External genital hypoplasia
type: Class
deprecated: true
notation: HP:0000788

Infertility
tree view: Decreased fertility
has db xref: MSH:D007246
has db xref: SNOMEDCT_US:15296000
has db xref: SNOMEDCT_US:8619003
has db xref: UMLS:C0021359
has exact synonym: Infertility
has OBO namespace: human_phenotype
id: HP:0000789
type: Class
subclass of: Decreased fertility
notation: HP:0000789

Hematuria
tree view: HP_0012211
tree view: HP_0012614
IAO_0000115: The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine).
has broad synonym: High urine occult blood
has db xref: MSH:D006417
has db xref: SNOMEDCT_US:34436003
has db xref: SNOMEDCT_US:53298000
has db xref: UMLS:C0018965
has exact synonym: Blood in urine
has OBO namespace: human_phenotype
id: HP:0000790
type: Class
subclass of: HP_0012211
subclass of: HP_0012614
notation: HP:0000790

Uric acid nephrolithiasis
tree view: Nephrolithiasis
IAO_0000115: The presence of uric acid-containing calculi (stones) in the kidneys.
has db xref: SNOMEDCT_US:267441009
has db xref: UMLS:C0403719
has exact synonym: Uric acid stones
has exact synonym: Uric acid urolithiasis
has OBO namespace: human_phenotype
id: HP:0000791
type: Class
subclass of: Nephrolithiasis
notation: HP:0000791

HP_0000792
IAO_0000231: IAO_0000227
IAO_0100001: HP_0012210
type: Class
deprecated: true
notation: HP:0000792

Membranoproliferative glomerulonephritis
tree view: Glomerulonephritis
IAO_0000115: A type of glomerulonephritis characterized by diffuse mesangial cell proliferation and the thickening of capillary walls due to subendothelial extension of the mesangium. The term membranoproliferative glomerulonephritis is often employed to denote a general pattern of glomerular injury seen in a variety of disease processes that share a common pathogenetic mechanism, rather than to describe a single disease entity
has db xref: MSH:D015432
has db xref: SNOMEDCT_US:80321008
has db xref: UMLS:C0017662
has exact synonym: MPGN
has exact synonym: Mesangiocapillary glomerulonephritis
has OBO namespace: human_phenotype
id: HP:0000793
type: Class
subclass of: Glomerulonephritis
notation: HP:0000793

IgA deposition in the glomerulus
tree view: HP_0030949
IAO_0000115: The presence of immunoglobulin A deposits in the glomerulus.
has db xref: MSH:D005922
has db xref: SNOMEDCT_US:236407003
has db xref: SNOMEDCT_US:68779003
has db xref: UMLS:C0017661
has db xref: UMLS:C4025827
has OBO namespace: human_phenotype
has related synonym: IgA nephropathy
id: HP:0000794
type: Class
subclass of: HP_0030949
notation: HP:0000794

Abnormality of the urethra
tree view: Abnormality of male external genitalia
tree view: HP_0010936
IAO_0000115: An abnormality of the urethra, i.e., of the tube which connects the urinary bladder to the outside of the body.
has db xref: UMLS:C4025826
has exact synonym: Urethra issue
has OBO namespace: human_phenotype
id: HP:0000795
type: Class
subclass of: Abnormality of male external genitalia
subclass of: HP_0010936
notation: HP:0000795

Urethral obstruction
tree view: Abnormality of the urethra
IAO_0000115: Obstruction of the flow of urine through the urethra.
has db xref: MSH:D014524
has db xref: SNOMEDCT_US:95588004
has db xref: UMLS:C0041972
has OBO namespace: human_phenotype
id: HP:0000796
type: Class
subclass of: Abnormality of the urethra
notation: HP:0000796

HP_0000797
IAO_0000231: IAO_0000227
IAO_0100001: Cryptorchidism
type: Class
deprecated: true
notation: HP:0000797

Oligospermia
tree view: HP_0008669
IAO_0000115: Reduced count of spermatozoa in the semen, defined as a sperm count below 20 million per milliliter semen.
has db xref: MSH:D009845
has db xref: UMLS:C0028960
has exact synonym: Low sperm count
has OBO namespace: human_phenotype
id: HP:0000798
type: Class
subclass of: HP_0008669
notation: HP:0000798

Renal steatosis
tree view: HP_0012210
IAO_0000115: Abnormal fat accumulation in the kidneys.
has db xref: UMLS:C4021796
has exact synonym: Fatty kidney
has OBO namespace: human_phenotype
id: HP:0000799
type: Class
subclass of: HP_0012210
notation: HP:0000799

Cystic renal dysplasia
tree view: Renal cyst
has alternative id: HP:0008737
has db xref: UMLS:C1834931
has exact synonym: Bilateral cystic dysplasia
has exact synonym: Renal cystic dysplasia
has exact synonym: Renal dysplasia, cystic
has OBO namespace: human_phenotype
id: HP:0000800
type: Class
subclass of: Renal cyst
notation: HP:0000800

HP_0000801
IAO_0000231: IAO_0000227
IAO_0100001: Nephrotic syndrome
type: Class
deprecated: true
notation: HP:0000801

Impotence
tree view: HP_0012874
tree view: HP_0100639
IAO_0000115: Inability to develop or maintain an erection of the penis.
has db xref: MSH:D007172
has db xref: SNOMEDCT_US:397803000
has db xref: UMLS:C0242350
has exact synonym: Difficulty getting a full erection
has exact synonym: Difficulty getting an erection
has exact synonym: Erectile dysfunction
has OBO namespace: human_phenotype
id: HP:0000802
type: Class
subclass of: HP_0012874
subclass of: HP_0100639
notation: HP:0000802

Renal cortical cysts
tree view: Renal cyst
tree view: HP_0011035
IAO_0000115: Cysts of the cortex of the kidney.
has db xref: UMLS:C1969144
has exact synonym: Cortical cysts
has OBO namespace: human_phenotype
id: HP:0000803
type: Class
subclass of: Renal cyst
subclass of: HP_0011035
notation: HP:0000803

Xanthine nephrolithiasis
tree view: Nephrolithiasis
IAO_0000115: The presence of xanthine-containing calculi (stones) in the kidneys.
has db xref: UMLS:C1848431
has exact synonym: Urinary xanthine stones
has exact synonym: Xanthine stones
has OBO namespace: human_phenotype
id: HP:0000804
type: Class
subclass of: Nephrolithiasis
notation: HP:0000804

Enuresis
tree view: Functional abnormality of the bladder
IAO_0000115: Lack of the ability to control the urinary bladder leading to involuntary urination at an age where control of the bladder should already be possible.
has db xref: MSH:D004775
has db xref: SNOMEDCT_US:8009008
has db xref: UMLS:C0014394
has OBO namespace: human_phenotype
id: HP:0000805
type: Class
subclass of: Functional abnormality of the bladder
notation: HP:0000805

HP_0000806
IAO_0000231: IAO_0000227
IAO_0100001: Proximal tubulopathy
type: Class
deprecated: true
notation: HP:0000806

Glandular hypospadias
tree view: Hypospadias
has db xref: SNOMEDCT_US:204891000
has db xref: SNOMEDCT_US:429631000124104
has db xref: UMLS:C0452168
has OBO namespace: human_phenotype
id: HP:0000807
type: Class
subclass of: Hypospadias
notation: HP:0000807

Penoscrotal hypospadias
tree view: Hypospadias
IAO_0000115: A severe form of hypospadias in which the urethral opening is located at the junction of the penis and scrotum.
has db xref: SNOMEDCT_US:204889008
has db xref: UMLS:C0452147
has OBO namespace: human_phenotype
id: HP:0000808
type: Class
subclass of: Hypospadias
notation: HP:0000808

Urinary tract atresia
tree view: Abnormality of the urinary system
IAO_0000115: Congenital absence of the normal opening of a structure of the urinary tract.
created by: peter
creation date: 2008-02-27T04:07:00Z
has db xref: UMLS:C1389003
has OBO namespace: human_phenotype
id: HP:0000809
type: Class
subclass of: Abnormality of the urinary system
notation: HP:0000809

HP_0000810
IAO_0000231: IAO_0000227
IAO_0100001: Oroticaciduria
type: Class
deprecated: true
notation: HP:0000810

Abnormal external genitalia
tree view: HP_0012243
has db xref: UMLS:C4025825
has exact synonym: Abnormal external genitalia
has OBO namespace: human_phenotype
id: HP:0000811
type: Class
subclass of: HP_0012243
notation: HP:0000811

Abnormal internal genitalia
tree view: HP_0012243
IAO_0000115: An anomaly of the adnexa, uterus, and vagina (in female) or seminal tract and prostate (in male).
has db xref: UMLS:C4025824
has exact synonym: Abnormal internal genitalia
has OBO namespace: human_phenotype
id: HP:0000812
type: Class
subclass of: HP_0012243
notation: HP:0000812

Bicornuate uterus
tree view: HP_0031105
IAO_0000115: The presence of a bicornuate uterus.
has alternative id: HP:0008735
has db xref: SNOMEDCT_US:31401003
has db xref: UMLS:C0266387
has exact synonym: Heart shaped uterus
has exact synonym: Heart-shaped uterus
has exact synonym: Uterus bicornis
has OBO namespace: human_phenotype
id: HP:0000813
type: Class
comment: Uterus with two horn-shaped branches.
subclass of: HP_0031105
notation: HP:0000813

HP_0000814
IAO_0000231: IAO_0000227
IAO_0100001: Renal cortical microcysts
type: Class
deprecated: true
notation: HP:0000814

Hypergonadotropic hypogonadism
tree view: Hypogonadism
IAO_0000115: Reduced function of the gonads (testes in males or ovaries in females) associated with excess pituitary gonadotropin secretion and resulting in delayed sexual development and growth delay.
has alternative id: HP:0008679
has db xref: MSH:D007006
has db xref: SNOMEDCT_US:370999003
has db xref: UMLS:C0948896
has exact synonym: Hypergonadotrophic hypogonadism
has exact synonym: Primary hypogonadism
has OBO namespace: human_phenotype
id: HP:0000815
type: Class
subclass of: Hypogonadism
notation: HP:0000815

Abnormality of Krebs cycle metabolism
tree view: HP_0012379
IAO_0000115: An abnormality of the tricarboxylic acid cycle.
created by: peter
creation date: 2008-03-17T12:58:00Z
has db xref: UMLS:C4021795
has exact synonym: Abnormality of citric acid cycle
has exact synonym: Abnormality of the tricarboxylic cycle
has OBO namespace: human_phenotype
id: HP:0000816
type: Class
subclass of: HP_0012379
notation: HP:0000816

Poor eye contact
tree view: Impaired social interactions
IAO_0000115: Difficulty in looking at another person in the eye.
has db xref: SNOMEDCT_US:412786000
has db xref: UMLS:C1445953
has exact synonym: Poor eye contact
has OBO namespace: human_phenotype
id: HP:0000817
type: Class
comment: Eye contact, define as the meeting of the gaze between two people during a conversation, is an important form of nonverbal communication.
subclass of: Impaired social interactions
notation: HP:0000817

Abnormality of the endocrine system
tree view: Phenotypic abnormality
IAO_0000115: An abnormality of the endocrine system.
has db xref: MSH:D004700
has db xref: SNOMEDCT_US:362969004
has db xref: UMLS:C0014130
has db xref: UMLS:C4025823
has OBO namespace: human_phenotype
has related synonym: Endocrine system disease
id: HP:0000818
type: Class
comment: The endocrine system is composed of glands that secrete hormones directly into the bloodstream and includes the following glands: thyroid, parathyroids, adrenals, pancreas, gonads (testicles and ovaries), and pituitary. Many other organs, such as the kidney, liver, and heart, have secondary endocrine functions.
subclass of: Phenotypic abnormality
notation: HP:0000818

Diabetes mellitus
tree view: Abnormality of the endocrine system
tree view: Glucose intolerance
IAO_0000115: A group of abnormalities characterized by hyperglycemia and glucose intolerance.
has alternative id: HP:0004908
has alternative id: HP:0008217
has alternative id: HP:0008234
has alternative id: HP:0008260
has db xref: MSH:D003920
has db xref: SNOMEDCT_US:73211009
has db xref: UMLS:C0011849
has OBO namespace: human_phenotype
id: HP:0000819
type: Class
subclass of: Abnormality of the endocrine system
subclass of: Glucose intolerance
notation: HP:0000819

Abnormality of the thyroid gland
tree view: Abnormality of the endocrine system
IAO_0000115: An abnormality of the thyroid gland.
has db xref: MSH:D013959
has db xref: SNOMEDCT_US:14304000
has db xref: UMLS:C0040128
has exact synonym: Abnormality of the thyroid gland
has exact synonym: Thyroid abnormality
has OBO namespace: human_phenotype
has related synonym: Thyroid disease
id: HP:0000820
type: Class
subclass of: Abnormality of the endocrine system
notation: HP:0000820

Hypothyroidism
tree view: Abnormality of thyroid physiology
IAO_0000115: Deficiency of thyroid hormone.
has alternative id: HP:0003222
has alternative id: HP:0008203
has db xref: MSH:D007037
has db xref: SNOMEDCT_US:40930008
has db xref: UMLS:C0020676
has exact synonym: Low T4
has exact synonym: Underactive thyroid
has OBO namespace: human_phenotype
id: HP:0000821
type: Class
subclass of: Abnormality of thyroid physiology
notation: HP:0000821

Hypertension
tree view: HP_0032263
IAO_0000115: The presence of chronic increased pressure in the systemic arterial system.
has alternative id: HP:0004949
has alternative id: HP:0005126
has db xref: MSH:D006973
has db xref: SNOMEDCT_US:24184005
has db xref: SNOMEDCT_US:38341003
has db xref: UMLS:C0020538
has db xref: UMLS:C0497247
has exact synonym: Systemic hypertension
has OBO namespace: human_phenotype
has related synonym: High blood pressure
id: HP:0000822
type: Class
comment: Hypertension is sustained elevation of resting systolic BP (140 mm Hg or higher), diastolic BP (90 mm Hg or higher), or both.
subclass of: HP_0032263
notation: HP:0000822

Delayed puberty
tree view: Growth delay
tree view: HP_0008373
IAO_0000115: Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty.
has alternative id: HP:0008859
has alternative id: HP:0010466
has alternative id: HP:0010467
has db xref: MSH:D011628
has db xref: SNOMEDCT_US:123526007
has db xref: SNOMEDCT_US:400003000
has db xref: UMLS:C0034012
has exact synonym: Delayed pubertal development
has exact synonym: Delayed pubertal growth
has exact synonym: Delayed puberty
has exact synonym: Pubertal delay
has OBO namespace: human_phenotype
id: HP:0000823
type: Class
comment: The age at which delayed puberty may be diagnosed in a person without signs of secondary sexual development is 13 years in a girl or 14 years in a boy.
subclass of: Growth delay
subclass of: HP_0008373
notation: HP:0000823

Growth hormone deficiency
tree view: Anterior hypopituitarism
tree view: HP_0032367
IAO_0000115: Insufficient production of growth hormone, which is produced by the anterior pituitary gland. Growth hormone is a major participant in control of growth and metabolism.
has alternative id: HP:0000861
has alternative id: HP:0008195
has alternative id: HP:0008206
has db xref: SNOMEDCT_US:2109003
has db xref: UMLS:C3714796
has exact synonym: Growth hormone deficiency
has exact synonym: Somatotropin deficiency
has OBO namespace: human_phenotype
id: HP:0000824
type: Class
comment: The effects of growth hormone are mediated almost exclusively by insulin-like growth factor 1(IGF-1), which is produced primarily in the liver. Growth hormone deficiency refers to inadequate levels of GH (and therefore IGF-1), resulting in growth retardation in children and metabolic disturbances in adults.
subclass of: Anterior hypopituitarism
subclass of: HP_0032367
notation: HP:0000824

Hyperinsulinemic hypoglycemia
tree view: Hyperinsulinemia
IAO_0000115: An increased concentration of insulin combined with a decreased concentration of glucose in the blood.
has db xref: UMLS:C1864903
has exact synonym: Hyperinsulinaemic hypoglycaemia
has exact synonym: Hyperinsulinemia hypoglycemia
has OBO namespace: human_phenotype
id: HP:0000825
type: Class
comment: Hyperinsulinemic hypoglycemia describes a situation in which the level of insulin is inappropriate for the low level of blood sugar.
subclass of: Hyperinsulinemia
notation: HP:0000825

Precocious puberty
tree view: HP_0100000
IAO_0000115: The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys.
has db xref: MSH:D011629
has db xref: SNOMEDCT_US:123527003
has db xref: SNOMEDCT_US:400179000
has db xref: UMLS:C0034013
has exact synonym: Early onset of puberty
has exact synonym: Early puberty
has OBO namespace: human_phenotype
id: HP:0000826
type: Class
subclass of: HP_0100000
notation: HP:0000826

HP_0000827
IAO_0000231: IAO_0000227
IAO_0100001: HP_0008373
type: Class
deprecated: true
notation: HP:0000827

Abnormality of the parathyroid gland
tree view: Abnormality of the endocrine system
IAO_0000115: An abnormality of the parathyroid gland.
has db xref: MSH:D010279
has db xref: SNOMEDCT_US:73132005
has db xref: UMLS:C0030517
has db xref: UMLS:C4025822
has OBO namespace: human_phenotype
has related synonym: Parathyroid disease
id: HP:0000828
type: Class
comment: There are four parathyroid glands, which are small endocrine glands located in the neck behind the thyroid gland that produce parathyroid hormone.
subclass of: Abnormality of the endocrine system
notation: HP:0000828

Hypoparathyroidism
tree view: HP_0011767
IAO_0000115: A condition caused by a deficiency of parathyroid hormone characterized by hypocalcemia and hyperphosphatemia.
has alternative id: HP:0000856
has alternative id: HP:0008292
has db xref: MSH:D007011
has db xref: SNOMEDCT_US:36976004
has db xref: UMLS:C0020626
has exact synonym: Decreased parathyroid hormone secretion
has exact synonym: Low parathyroid hormone
has OBO namespace: human_phenotype
id: HP:0000829
type: Class
subclass of: HP_0011767
notation: HP:0000829

Anterior hypopituitarism
tree view: HP_0040075
IAO_0000115: A condition of reduced function of the anterior pituitary gland characterized by decreased secretion of one or more of the pituitary hormones growth hormone, thyroid-stimulating hormone, adrenocorticotropic hormone, prolactin, luteinizing hormone, and follicle-stimulating hormone.
has db xref: UMLS:C4025821
has OBO namespace: human_phenotype
id: HP:0000830
type: Class
subclass of: HP_0040075
notation: HP:0000830

Insulin-resistant diabetes mellitus
tree view: Diabetes mellitus
tree view: Insulin resistance
IAO_0000115: A type of diabetes mellitus related not to lack of insulin but rather to lack of response to insulin on the part of the target tissues of insulin such as muscle, fat, and liver cells. This type of diabetes is typically associated with increases both in blood glucose concentrations as will as in fasting and postprandial serum insulin levels.
has db xref: UMLS:C0854110
has exact synonym: Insulin resistant diabetes
has exact synonym: Insulin resistant diabetes mellitus
has exact synonym: Insulin-resistant diabetes
has OBO namespace: human_phenotype
id: HP:0000831
type: Class
subclass of: Diabetes mellitus
subclass of: Insulin resistance
notation: HP:0000831

Primary hypothyroidism
tree view: Hypothyroidism
IAO_0000115: A type of hypothyroidism that results from a defect in the thyroid gland.
has db xref: SNOMEDCT_US:111566002
has db xref: UMLS:C0700502
has OBO namespace: human_phenotype
id: HP:0000832
type: Class
subclass of: Hypothyroidism
notation: HP:0000832

obsolete Glucose intolerance
IAO_0000231: IAO_0000227
IAO_0100001: Glucose intolerance
IAO_0100001: HP:0001952
has OBO namespace: human_phenotype
id: HP:0000833
type: Class
deprecated: true
notation: HP:0000833

Abnormality of the adrenal glands
tree view: Abnormality of the endocrine system
IAO_0000115: Abnormality of the adrenal glands, i.e., of the endocrine glands located at the top of the kindneys.
has db xref: MSH:D000307
has db xref: SNOMEDCT_US:30171000
has db xref: UMLS:C0001621
has db xref: UMLS:C4021794
has exact synonym: Adrenal abnormalities
has OBO namespace: human_phenotype
has related synonym: Adrenal gland disease
id: HP:0000834
type: Class
subclass of: Abnormality of the endocrine system
notation: HP:0000834

Adrenal hypoplasia
tree view: HP_0011732
IAO_0000115: Developmental hypoplasia of the adrenal glands.
has db xref: MSH:C538429
has db xref: SNOMEDCT_US:237774001
has db xref: UMLS:C0342491
has db xref: UMLS:C1846223
has exact synonym: Adrenal gland hypoplasia
has exact synonym: Hypoplastic adrenal glands
has exact synonym: Small adrenal glands
has OBO namespace: human_phenotype
id: HP:0000835
type: Class
subclass of: HP_0011732
notation: HP:0000835

Hyperthyroidism
tree view: Abnormality of thyroid physiology
IAO_0000115: An abnormality of thyroid physiology characterized by excessive secretion of the thyroid hormones thyroxine (i.e., T4) and/or 3,3',5-triiodo-L-thyronine zwitterion (i.e., triiodothyronine or T3).
has alternative id: HP:0008241
has db xref: MSH:D006980
has db xref: SNOMEDCT_US:34486009
has db xref: UMLS:C0020550
has exact synonym: Overactive thyroid
has OBO namespace: human_phenotype
id: HP:0000836
type: Class
subclass of: Abnormality of thyroid physiology
notation: HP:0000836

Increased circulating gonadotropin level
tree view: HP_0010514
tree view: HP_0030338
IAO_0000115: Overproduction of gonadotropins (FSH, LH) by the anterior pituitary gland.
has alternative id: HP:0030340
has db xref: UMLS:C1862265
has exact synonym: Elevated gonadotropins
has exact synonym: Elevated serum gonadotropins
has exact synonym: Gonadotropin excess
has exact synonym: Increased circulating gonadotropin level
has OBO namespace: human_phenotype
id: HP:0000837
type: Class
subclass of: HP_0010514
subclass of: HP_0030338
notation: HP:0000837

HP_0000838
IAO_0000231: IAO_0000227
IAO_0100001: Abnormality of the hypothalamus-pituitary axis
type: Class
deprecated: true
notation: HP:0000838

Pituitary dwarfism
tree view: Growth hormone deficiency
tree view: Short stature
IAO_0000115: A type of reduced stature with normal proportions related to dysfunction of the pituitary gland related to either an isolated defect in the secretion of growth hormone or to panhypopituitarism, i.e., a deficit of all the anterior pituitary hormones.
has db xref: MSH:D004393
has db xref: SNOMEDCT_US:367460001
has db xref: SNOMEDCT_US:7530009
has db xref: UMLS:C0013338
has OBO namespace: human_phenotype
id: HP:0000839
type: Class
subclass of: Growth hormone deficiency
subclass of: Short stature
notation: HP:0000839

Adrenogenital syndrome
tree view: HP_0008373
IAO_0000115: Adrenogenital syndrome is also known as congenital adrenal hyperplasia, which results from disorders of steroid hormone production in the adrenal glands leading to a deficiency of cortisol. The pituitary gland reacts by increased secretion of corticotropin, which in turn causes the adrenal glands to overproduce certain intermediary hormones which have testosterone-like effects.
has alternative id: HP:0001921
has db xref: MSH:D047808
has db xref: SNOMEDCT_US:237751000
has db xref: SNOMEDCT_US:267395000
has db xref: SNOMEDCT_US:271077003
has db xref: UMLS:C0302280
has OBO namespace: human_phenotype
id: HP:0000840
type: Class
subclass of: HP_0008373
notation: HP:0000840

Hyperactive renin-angiotensin system
tree view: Abnormality of renin-angiotensin system
IAO_0000115: An abnormally increased activity of the renin-angiotensin system, causing hypertension by a combination of volume excess and vasoconstrictor mechanisms.
has db xref: UMLS:C1846345
has db xref: UMLS:C3150267
has OBO namespace: human_phenotype
has related synonym: Increased plasma renin activity
id: HP:0000841
type: Class
comment: If the kidneys sense reduced renal blood flow, as can happen with reduced blood pressure, they secrete renin into the blood, where it reacts with angiotensinogen to produce angiotensin I, which is converted to angiotensin II by angiotensin converting enzyme (ACE). Both angiotensin I and II are vasoconstrictors. Angiotensin II additionally leads to the production of aldosterone by the adrenal cortex, which in turn leads to an increase in blood volume.
subclass of: Abnormality of renin-angiotensin system
notation: HP:0000841

Hyperinsulinemia
tree view: HP_0011014
tree view: HP_0040215
IAO_0000115: An increased concentration of insulin in the blood.
has db xref: MSH:D006946
has db xref: SNOMEDCT_US:83469008
has db xref: UMLS:C0020459
has exact synonym: Elevated insulin level
has OBO namespace: human_phenotype
id: HP:0000842
type: Class
subclass of: HP_0011014
subclass of: HP_0040215
notation: HP:0000842

Hyperparathyroidism
tree view: HP_0011767
IAO_0000115: Excessive production of parathyroid hormone (PTH) by the parathyroid glands.
has db xref: MSH:D006961
has db xref: SNOMEDCT_US:66999008
has db xref: UMLS:C0020502
has exact synonym: Elevated blood parathyroid hormone level
has OBO namespace: human_phenotype
id: HP:0000843
type: Class
subclass of: HP_0011767
notation: HP:0000843

HP_0000844
IAO_0000231: IAO_0000227
IAO_0100001: Abnormality of the hypothalamus-pituitary axis
type: Class
deprecated: true
notation: HP:0000844

Growth hormone excess
tree view: HP_0010514
tree view: HP_0032367
IAO_0000115: Acromegaly is a condition resulting from overproduction of growth hormone by the pituitary gland in persons with closed epiphyses, and consists chiefly in the enlargement of the distal parts of the body. The circumference of the skull increases, the nose becomes broad, the tongue becomes enlarged, the facial features become coarsened, the mandible grows excessively, and the teeth become separated. The fingers and toes grow chiefly in thickness.
has alternative id: HP:0008856
has db xref: MSH:C531600
has db xref: MSH:D000172
has db xref: SNOMEDCT_US:74107003
has db xref: UMLS:C0001206
has db xref: UMLS:C0235986
has exact synonym: Acral hypertrophy
has exact synonym: Acromegalic growth
has exact synonym: Acromegaly
has exact synonym: Growth hormone excess
has exact synonym: Somatotropin excess
has OBO namespace: human_phenotype
id: HP:0000845
type: Class
comment: Disorder resulting from excess pituitary gland production of growth hormone (hGH).
subclass of: HP_0010514
subclass of: HP_0032367
notation: HP:0000845

Adrenal insufficiency
tree view: HP_0011733
IAO_0000115: Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands.
has alternative id: HP:0000865
has alternative id: HP:0008218
has db xref: MSH:D000309
has db xref: SNOMEDCT_US:111563005
has db xref: SNOMEDCT_US:237785004
has db xref: SNOMEDCT_US:386584007
has db xref: UMLS:C0001623
has exact synonym: Hypoadrenalism
has OBO namespace: human_phenotype
id: HP:0000846
type: Class
comment: Adrenal insufficiency may cause persistent vomiting, anorexia, hypoglycemia, poor weight gain in a child, or unexplained weight loss in an adult, malaise, fatigue, muscular weakness, unexplained isotonic or hyponatremic dehydration, hyperkalemia, hypotension, hypoglycemia and especially generalized hyperpigmentation.
subclass of: HP_0011733
notation: HP:0000846

Abnormality of renin-angiotensin system
tree view: Abnormality of the endocrine system
IAO_0000115: An abnormality of the renin-angiotensin system.
has alternative id: HP:0003350
has db xref: UMLS:C4021793
has exact synonym: Abnormality of the renin-aldosterone axis
has OBO namespace: human_phenotype
id: HP:0000847
type: Class
comment: The renin-angiotensin system is a hormone system that regulates blood pressure and water (fluid) balance.
subclass of: Abnormality of the endocrine system
notation: HP:0000847

Increased circulating renin level
tree view: HP_0040084
IAO_0000115: An increased level of renin (PRO:000013883) in the blood.
has alternative id: HP:0003615
has db xref: UMLS:C0240783
has exact synonym: Elevated blood renin level
has exact synonym: Elevated plasma renin
has exact synonym: Hyperreninemia
has exact synonym: Increased plasma renin
has exact synonym: Increased serum renin
has OBO namespace: human_phenotype
id: HP:0000848
type: Class
subclass of: HP_0040084
notation: HP:0000848

Adrenocortical abnormality
tree view: HP_0011732
has db xref: UMLS:C4025820
has OBO namespace: human_phenotype
id: HP:0000849
type: Class
subclass of: HP_0011732
notation: HP:0000849

HP_0000850
IAO_0000231: IAO_0000227
IAO_0100001: Increased circulating cortisol level
type: Class
deprecated: true
notation: HP:0000850

Congenital hypothyroidism
tree view: Hypothyroidism
IAO_0000115: A type of hypothyroidism with congenital onset.
has db xref: MSH:D003409
has db xref: SNOMEDCT_US:190268003
has db xref: SNOMEDCT_US:217710005
has db xref: UMLS:C0010308
has exact synonym: Hypothyroidism, congenital
has exact synonym: Underactive thyroid gland from birth
has OBO namespace: human_phenotype
id: HP:0000851
type: Class
subclass of: Hypothyroidism
notation: HP:0000851

Pseudohypoparathyroidism
tree view: HP_0011767
IAO_0000115: A condition characterized by resistance to the action of parathyroid hormone, in which there is hypocalcemia, hyperphosphatemia, and (appropriately) high levels of parathyroid hormone.
has db xref: MSH:D011547
has db xref: SNOMEDCT_US:58976002
has db xref: UMLS:C0033806
has OBO namespace: human_phenotype
id: HP:0000852
type: Class
subclass of: HP_0011767
notation: HP:0000852

Goiter
tree view: HP_0011772
IAO_0000115: An enlargement of the thyroid gland.
has db xref: MSH:D006042
has db xref: SNOMEDCT_US:3716002
has db xref: UMLS:C0018021
has exact synonym: Enlarged thyroid gland in neck
has exact synonym: Goitre
has exact synonym: Thyroid goiter
has OBO namespace: human_phenotype
id: HP:0000853
type: Class
subclass of: HP_0011772
notation: HP:0000853

Thyroid adenoma
tree view: HP_0100031
IAO_0000115: The presence of a adenoma of the thyroid gland.
has db xref: MSH:D013964
has db xref: NCIT:C2855
has db xref: SNOMEDCT_US:255033000
has db xref: SNOMEDCT_US:255034006
has db xref: UMLS:C0151468
has OBO namespace: human_phenotype
id: HP:0000854
type: Class
subclass of: HP_0100031
notation: HP:0000854

Insulin resistance
tree view: HP_0011014
IAO_0000115: Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood glucose levels.
has db xref: MSH:D007333
has db xref: SNOMEDCT_US:48606007
has db xref: UMLS:C0021655
has exact synonym: Body fails to respond to insulin
has OBO namespace: human_phenotype
id: HP:0000855
type: Class
subclass of: HP_0011014
notation: HP:0000855

HP_0000856
IAO_0000231: IAO_0000227
IAO_0100001: Hypoparathyroidism
type: Class
deprecated: true
notation: HP:0000856

Neonatal insulin-dependent diabetes mellitus
tree view: Insulin-resistant diabetes mellitus
has db xref: UMLS:C3278636
has OBO namespace: human_phenotype
id: HP:0000857
type: Class
subclass of: Insulin-resistant diabetes mellitus
notation: HP:0000857

Menstrual irregularities
tree view: HP_0008373
has db xref: SNOMEDCT_US:80182007
has db xref: UMLS:C0156404
has exact synonym: Menstrual irregularity
has OBO namespace: human_phenotype
id: HP:0000858
type: Class
subclass of: HP_0008373
notation: HP:0000858

Hyperaldosteronism
tree view: Adrenal overactivity
IAO_0000115: Overproduction of the mineralocorticoid aldosterone by the adrenal cortex.
has alternative id: HP:0004318
has alternative id: HP:0005975
has db xref: MSH:D006929
has db xref: SNOMEDCT_US:88213004
has db xref: UMLS:C0020428
has exact synonym: Elevated plasma aldosterone
has exact synonym: Increased aldosterone
has exact synonym: Increased aldosterone production
has exact synonym: Mineralocorticoid excess
has OBO namespace: human_phenotype
id: HP:0000859
type: Class
subclass of: Adrenal overactivity
notation: HP:0000859

Parathyroid hypoplasia
tree view: HP_0011768
IAO_0000115: Developmental hypoplasia of the parathyroid gland.
has db xref: UMLS:C1389851
has exact synonym: Small parathyroid glands
has exact synonym: Underdeveloped parathyroid glands
has OBO namespace: human_phenotype
id: HP:0000860
type: Class
subclass of: HP_0011768
notation: HP:0000860

HP_0000861
IAO_0000231: IAO_0000227
IAO_0100001: Growth hormone deficiency
type: Class
deprecated: true
notation: HP:0000861

HP_0000862
IAO_0000231: IAO_0000227
IAO_0100001: HP_0008207
type: Class
deprecated: true
notation: HP:0000862

Central diabetes insipidus
tree view: Diabetes insipidus
tree view: HP_0011751
IAO_0000115: A form of diabetes insipidus related to a failure of vasopressin (AVP) release from the hypothalamus.
has alternative id: HP:0008210
has db xref: MSH:D020790
has db xref: SNOMEDCT_US:45369008
has db xref: UMLS:C0687720
has exact synonym: Neurohypophyseal diabetes insipidus
has OBO namespace: human_phenotype
id: HP:0000863
type: Class
subclass of: Diabetes insipidus
subclass of: HP_0011751
notation: HP:0000863

Abnormality of the hypothalamus-pituitary axis
tree view: Abnormality of the endocrine system
IAO_0000115: Abnormality of the pituitary gland (also known as hypophysis), which is an endocrine gland that protrudes from the bottom of the hypothalamus at the base of the brain. The pituitary gland secretes the hormones ACTH, TSH, PRL, GH, endorphins, FSH, LH, oxytocin, and antidiuretic hormone. The secretion of hormones from the anterior pituitary is under the strict control of hypothalamic hormones, and the posterior pituitary is essentially an extension of the hypothalamus, so that hypothalamus and pituitary gland may be regarded as a functional unit.
has alternative id: HP:0000838
has alternative id: HP:0000844
has db xref: UMLS:C4025819
has OBO namespace: human_phenotype
id: HP:0000864
type: Class
subclass of: Abnormality of the endocrine system
notation: HP:0000864

HP_0000865
IAO_0000231: IAO_0000227
IAO_0100001: Adrenal insufficiency
type: Class
deprecated: true
notation: HP:0000865

Euthyroid multinodular goiter
tree view: HP_0009798
has db xref: UMLS:C1846034
has OBO namespace: human_phenotype
id: HP:0000866
type: Class
subclass of: HP_0009798
notation: HP:0000866

Secondary hyperparathyroidism
tree view: Hyperparathyroidism
IAO_0000115: Secondary hyperparathyroidism refers to the production of higher than normal levels of parathyroid hormone in the presence of hypocalcemia.
has db xref: MSH:D006962
has db xref: SNOMEDCT_US:91478007
has db xref: UMLS:C0020503
has OBO namespace: human_phenotype
id: HP:0000867
type: Class
comment: Secondary hyperparathyroidism occurs most commonly secondary to chronic renal failure. Other causes of secondary hyperparathyroidism include osteomalacia, rickets, and malabsorption. The pathophysiology of secondary hyperparathyroidism results from abnormalities in the renal tubular absorption of phosphate with reduced phosphate excretion and hyperphosphatemia, as well as impaired renal conversion of 25-hydroxycholecalciferal to 1,25-dihydroxycholecalciferol, which in turn leads to a decrease in the intestinal absorption of calcium. In combination, elevated serum phosphate levels and reduced vitamin D production result in decreases in serum calcium levels or hypocalcemia, leading to hyperparathyroidism.
subclass of: Hyperparathyroidism
notation: HP:0000867

Decreased fertility in females
tree view: Decreased fertility
has db xref: UMLS:C0151639
has exact synonym: Decreased fertility in females
has exact synonym: Reduced fertility in females
has OBO namespace: human_phenotype
id: HP:0000868
type: Class
subclass of: Decreased fertility
notation: HP:0000868

Secondary amenorrhea
tree view: Amenorrhea
has db xref: SNOMEDCT_US:86030004
has db xref: UMLS:C0232940
has exact synonym: Previous menstrual periods stop
has OBO namespace: human_phenotype
id: HP:0000869
type: Class
subclass of: Amenorrhea
notation: HP:0000869

Prolactin excess
tree view: HP_0010514
IAO_0000115: The presence of abnormally increased levels of prolactin in the blood. Prolactin is a peptide hormone produced by the anterior pituitary gland that plays a role in breast development and lactation during pregnancy.
has db xref: MSH:D006966
has db xref: SNOMEDCT_US:237662005
has db xref: UMLS:C0020514
has exact synonym: Hyperprolactinaemia
has exact synonym: Hyperprolactinemia
has OBO namespace: human_phenotype
id: HP:0000870
type: Class
subclass of: HP_0010514
notation: HP:0000870

Panhypopituitarism
tree view: Anterior hypopituitarism
IAO_0000115: A pituitary functional deficit affecting all the anterior pituitary hormones (growth hormone, thyroid-stimulating hormone, follicle-stimulating hormone, luteinizing hormone, adrenocorticotropic hormone, and prolactin).
has db xref: MSH:C580003
has db xref: SNOMEDCT_US:32390006
has db xref: UMLS:C0242343
has OBO namespace: human_phenotype
id: HP:0000871
type: Class
subclass of: Anterior hypopituitarism
notation: HP:0000871

Hashimoto thyroiditis
tree view: Autoimmunity
tree view: HP_0100646
IAO_0000115: A chronic, autoimmune type of thyroiditis associated with hypothyroidism.
has db xref: MSH:D050031
has db xref: SNOMEDCT_US:21983002
has db xref: UMLS:C0677607
has exact synonym: Chronic lymphocytic thyroiditis
has exact synonym: Hashimoto's thyroiditis
has OBO namespace: human_phenotype
id: HP:0000872
type: Class
subclass of: Autoimmunity
subclass of: HP_0100646
notation: HP:0000872

Diabetes insipidus
tree view: Abnormality of the endocrine system
IAO_0000115: A state of excessive water intake and hypotonic (dilute) polyuria. Diabetes insipidus may be due to failure of vasopressin (AVP) release (central or neurogenic diabetes insipidus) or to a failure of the kidney to respond to AVP (nephrogenic diabetes insipidus).
has db xref: MSH:D003919
has db xref: SNOMEDCT_US:15771004
has db xref: UMLS:C0011848
has OBO namespace: human_phenotype
id: HP:0000873
type: Class
subclass of: Abnormality of the endocrine system
notation: HP:0000873

HP_0000874
IAO_0000231: IAO_0000227
IAO_0100001: HP_0008163
type: Class
deprecated: true
notation: HP:0000874

Episodic hypertension
tree view: Hypertension
has db xref: UMLS:C1857175
has exact synonym: Intermittent high blood pressure
has OBO namespace: human_phenotype
id: HP:0000875
type: Class
subclass of: Hypertension
notation: HP:0000875

Oligomenorrhea
tree view: Abnormality of the menstrual cycle
IAO_0000115: Infrequent menses (less than 6 per year or more than 35 days between cycles).
has db xref: MSH:D009839
has db xref: SNOMEDCT_US:52073004
has db xref: UMLS:C0028949
has exact synonym: Light or infrequent menstrual periods
has OBO namespace: human_phenotype
id: HP:0000876
type: Class
subclass of: Abnormality of the menstrual cycle
notation: HP:0000876

Insulin-resistant diabetes mellitus at puberty
tree view: Insulin-resistant diabetes mellitus
has db xref: UMLS:C1837792
has exact synonym: Insulin-resistant diabetes mellitus at puberty
has OBO namespace: human_phenotype
id: HP:0000877
type: Class
subclass of: Insulin-resistant diabetes mellitus
notation: HP:0000877

11 pairs of ribs
tree view: Missing ribs
IAO_0000115: Presence of only 11 pairs of ribs.
has db xref: UMLS:C1839731
has exact synonym: 11 pairs of ribs
has OBO namespace: human_phenotype
id: HP:0000878
in subset: hposlim core
type: Class
comment: Normally, there are 12 pairs of ribs.
subclass of: Missing ribs
notation: HP:0000878

Short sternum
tree view: HP_0006714
IAO_0000115: Decreased inferosuperior length of the sternum.
has db xref: SNOMEDCT_US:298724002
has db xref: UMLS:C0575497
has db xref: UMLS:C4020883
has exact synonym: Short sternum
has OBO namespace: human_phenotype
has related synonym: Hypoplastic sternum
id: HP:0000879
in subset: hposlim core
type: Class
subclass of: HP_0006714
notation: HP:0000879

HP_0000880
IAO_0000231: IAO_0000227
IAO_0100001: Rib fusion
type: Class
deprecated: true
notation: HP:0000880

HP_0000881
IAO_0000231: IAO_0000227
IAO_0100001: Missing ribs
type: Class
deprecated: true
notation: HP:0000881

Hypoplastic scapulae
tree view: HP_0006713
IAO_0000115: Underdeveloped scapula.
has alternative id: HP:0000906
has alternative id: HP:0006616
has db xref: UMLS:C1846434
has exact synonym: Hypoplastic scapula
has exact synonym: Scapular hypoplasia
has exact synonym: Short scapulae
has exact synonym: Small scapula
has exact synonym: Small scapulae
has exact synonym: Small shoulder blade
has OBO namespace: human_phenotype
id: HP:0000882
in subset: hposlim core
type: Class
subclass of: HP_0006713
notation: HP:0000882

Thin ribs
tree view: Abnormality of the ribs
IAO_0000115: Ribs with a reduced diameter.
has db xref: SNOMEDCT_US:249697003
has db xref: UMLS:C0426818
has exact synonym: Slender ribs
has exact synonym: Thin ribs
has OBO namespace: human_phenotype
id: HP:0000883
in subset: hposlim core
type: Class
subclass of: Abnormality of the ribs
notation: HP:0000883

Prominent sternum
tree view: Abnormality of the sternum
has db xref: UMLS:C1846433
has exact synonym: Prominent sternum
has exact synonym: Sternal protrusion
has OBO namespace: human_phenotype
id: HP:0000884
type: Class
subclass of: Abnormality of the sternum
notation: HP:0000884

Broad ribs
tree view: Abnormality of the ribs
IAO_0000115: Increased width of ribs
has alternative id: HP:0000903
has alternative id: HP:0000950
has alternative id: HP:0006667
has db xref: UMLS:C1848654
has exact synonym: Broad ribs
has exact synonym: Wide ribs
has OBO namespace: human_phenotype
id: HP:0000885
in subset: hposlim core
type: Class
subclass of: Abnormality of the ribs
notation: HP:0000885

Deformed rib cage
tree view: Abnormality of the rib cage
IAO_0000115: Malformation of the rib cage.
has db xref: UMLS:C1838659
has exact synonym: Deformed rib cage
has OBO namespace: human_phenotype
id: HP:0000886
type: Class
subclass of: Abnormality of the rib cage
notation: HP:0000886

Cupped ribs
tree view: Abnormality of the ribs
IAO_0000115: Wide, concave rib end.
has alternative id: HP:0006635
has db xref: SNOMEDCT_US:249704008
has db xref: UMLS:C0426826
has db xref: UMLS:C1865039
has exact synonym: Cupped ribs
has exact synonym: Rib cupping
has OBO namespace: human_phenotype
has related synonym: Rib flaring
id: HP:0000887
in subset: hposlim core
type: Class
subclass of: Abnormality of the ribs
notation: HP:0000887

Horizontal ribs
tree view: Abnormality of the ribs
IAO_0000115: A horizontal (flat) conformation of the ribs, the long curved bones that form the rib cage and normally progressively oblique (slanted) from ribs 1 through 9, then less slanted through rib 12.
has db xref: UMLS:C3806510
has exact synonym: Horizontal ribs
has OBO namespace: human_phenotype
id: HP:0000888
type: Class
subclass of: Abnormality of the ribs
notation: HP:0000888

Abnormality of the clavicle
tree view: Abnormality of the thorax
IAO_0000115: Any abnormality of the clavicles (collar bones).
has db xref: UMLS:C4021792
has exact synonym: Abnormal clavicles
has exact synonym: Abnormal collarbone
has OBO namespace: human_phenotype
id: HP:0000889
in subset: hposlim core
type: Class
subclass of: Abnormality of the thorax
notation: HP:0000889

Long clavicles
tree view: Abnormality of the clavicle
IAO_0000115: Increased length of the clavicles.
has alternative id: HP:0006592
has db xref: SNOMEDCT_US:249687007
has db xref: UMLS:C0426808
has exact synonym: Elongated clavicles
has exact synonym: Long collarbone
has OBO namespace: human_phenotype
id: HP:0000890
type: Class
subclass of: Abnormality of the clavicle
notation: HP:0000890

Cervical ribs
tree view: HP_0005815
has db xref: MSH:D057070
has db xref: SNOMEDCT_US:72535009
has db xref: UMLS:C0158779
has OBO namespace: human_phenotype
id: HP:0000891
in subset: hposlim core
type: Class
subclass of: HP_0005815
notation: HP:0000891

Bifid ribs
tree view: Abnormality of the ribs
IAO_0000115: A bifid rib refers to cleavage of the sternal end of a rib, usually unilateral. Bifid ribs are usually asymptomatic, and are often discovered incidentally by chest x-ray.
has db xref: SNOMEDCT_US:66102006
has db xref: UMLS:C0265695
has exact synonym: Cleft ribs
has exact synonym: Split ribs
has OBO namespace: human_phenotype
id: HP:0000892
type: Class
subclass of: Abnormality of the ribs
notation: HP:0000892

Bulging of the costochondral junction
tree view: Abnormality of the sternum
tree view: Abnormality of the costochondral junction
IAO_0000115: Abnormal outward curving (protuberance) of the junction of ribs and costal cartilage.
has db xref: UMLS:C1848538
has OBO namespace: human_phenotype
id: HP:0000893
type: Class
comment: The costochondral junction is the structure where the ribs articulate with the sternum.
subclass of: Abnormality of the sternum
subclass of: Abnormality of the costochondral junction
notation: HP:0000893

Short clavicles
tree view: HP_0006710
IAO_0000115: Reduced length of the clavicles.
has alternative id: HP:0000898
has alternative id: HP:0005698
has alternative id: HP:0005902
has db xref: SNOMEDCT_US:93250003
has db xref: UMLS:C0426799
has exact synonym: Clavicular hypoplasia
has exact synonym: Hypoplastic clavicles
has exact synonym: Short collarbone
has exact synonym: Underdeveloped clavicles
has OBO namespace: human_phenotype
id: HP:0000894
in subset: hposlim core
type: Class
subclass of: HP_0006710
notation: HP:0000894

Lateral clavicle hook
tree view: Abnormality of the clavicle
IAO_0000115: An excessive upward convexity of the lateral clavicle.
has db xref: SNOMEDCT_US:249684000
has db xref: UMLS:C0426805
has exact synonym: Handlebar clavicle
has exact synonym: Hook-shaped clavicle
has exact synonym: Hook-shaped collarbone
has exact synonym: Hooked clavicle
has OBO namespace: human_phenotype
id: HP:0000895
type: Class
subclass of: Abnormality of the clavicle
notation: HP:0000895

Rib exostoses
tree view: Abnormality of the ribs
tree view: HP_0100777
IAO_0000115: Multiple circumscribed bony excrescences located in the ribs.
has db xref: UMLS:C1835579
has OBO namespace: human_phenotype
id: HP:0000896
type: Class
subclass of: Abnormality of the ribs
subclass of: HP_0100777
notation: HP:0000896

Rachitic rosary
tree view: Abnormality of the sternum
tree view: Abnormality of the costochondral junction
IAO_0000115: A row of beadlike prominences at the junction of a rib and its cartilage (i.e., enlarged costochondral joints), resembling a rosary.
has db xref: SNOMEDCT_US:15214001
has db xref: SNOMEDCT_US:249702007
has db xref: UMLS:C0426824
has OBO namespace: human_phenotype
id: HP:0000897
type: Class
comment: Nutritional rickets (NR), secondary to vitamin D deficiency and/or dietary calcium deficiency, is characterized by a range of features including 1) hypocalcemic seizures and tetanic spasms; 2) life-threatening hypocalcemic cardiomyopathy; 3) bone pain and muscle weakness; 4) limb and pelvic deformities; 5) failure to thrive; 6) developmental delay; and 7) dental anomalies. Rickets can additionally be caused by genetic defects such as a defect in the vitamin D receptor gene.
subclass of: Abnormality of the sternum
subclass of: Abnormality of the costochondral junction
notation: HP:0000897

HP_0000898
IAO_0000231: IAO_0000227
IAO_0100001: Short clavicles
type: Class
deprecated: true
notation: HP:0000898

HP_0000899
IAO_0000231: IAO_0000227
IAO_0100001: Short ribs
type: Class
deprecated: true
notation: HP:0000899

Thickened ribs
tree view: Abnormality of the ribs
IAO_0000115: Increased thickness (diameter) of ribs.
has db xref: SNOMEDCT_US:249699000
has db xref: UMLS:C0426820
has OBO namespace: human_phenotype
id: HP:0000900
in subset: hposlim core
type: Class
subclass of: Abnormality of the ribs
notation: HP:0000900

HP_0000901
IAO_0000231: IAO_0000227
IAO_0100001: HP_0005815
type: Class
deprecated: true
notation: HP:0000901

Rib fusion
tree view: Abnormality of the ribs
IAO_0000115: Complete or partial merging of adjacent ribs.
has alternative id: HP:0000880
has db xref: UMLS:C1844749
has exact synonym: Fused ribs
has exact synonym: Rib fusion
has OBO namespace: human_phenotype
id: HP:0000902
type: Class
subclass of: Abnormality of the ribs
notation: HP:0000902

HP_0000903
IAO_0000231: IAO_0000227
IAO_0100001: Broad ribs
type: Class
deprecated: true
notation: HP:0000903

Flaring of rib cage
tree view: Abnormality of the ribs
IAO_0000115: The presence of wide, concave anterior rib ends.
has alternative id: HP:0006656
has db xref: UMLS:C1854780
has exact synonym: Anterior flaring of ribs
has exact synonym: Flaring of rib cage
has OBO namespace: human_phenotype
id: HP:0000904
type: Class
subclass of: Abnormality of the ribs
notation: HP:0000904

Progressive clavicular acroosteolysis
tree view: Abnormality of the clavicle
tree view: Osteolysis
IAO_0000115: Progressive bone resorption in the distal part of the clavicle.
has db xref: UMLS:C1837757
has exact synonym: Progressive acroosteolysis of the clavicle
has OBO namespace: human_phenotype
id: HP:0000905
type: Class
subclass of: Abnormality of the clavicle
subclass of: Osteolysis
notation: HP:0000905

HP_0000906
IAO_0000231: IAO_0000227
IAO_0100001: Hypoplastic scapulae
type: Class
deprecated: true
notation: HP:0000906

Anterior rib cupping
tree view: Cupped ribs
IAO_0000115: Wide, concave anterior rib end.
has alternative id: HP:0006601
has db xref: UMLS:C1846154
has exact synonym: Anterior cupping of ribs
has exact synonym: Anteriorly splayed ribs
has OBO namespace: human_phenotype
id: HP:0000907
type: Class
subclass of: Cupped ribs
notation: HP:0000907

HP_0000908
IAO_0000231: IAO_0000227
IAO_0100001: Short ribs
type: Class
deprecated: true
notation: HP:0000908

HP_0000909
IAO_0000231: IAO_0000227
IAO_0100001: Narrow chest
type: Class
deprecated: true
notation: HP:0000909

Wide-cupped costochondral junctions
tree view: Abnormality of the costochondral junction
has db xref: UMLS:C1861213
has OBO namespace: human_phenotype
id: HP:0000910
type: Class
subclass of: Abnormality of the costochondral junction
notation: HP:0000910

Flat glenoid fossa
tree view: HP_0011912
IAO_0000115: Abnormally flat configuration of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus.
has db xref: UMLS:C1855177
has OBO namespace: human_phenotype
id: HP:0000911
type: Class
comment: See pmid:15163819, figure 2, for the arthrographic appearance of a flat glenoid fossa.
subclass of: HP_0011912
notation: HP:0000911

Sprengel anomaly
tree view: Abnormality of the scapula
IAO_0000115: A congenital skeletal deformity characterized by the elevation of one scapula (thus, one scapula is located superior to the other).
has alternative id: HP:0006621
has db xref: MEDDRA:10010455
has db xref: MSH:C535802
has db xref: SNOMEDCT_US:79120002
has db xref: UMLS:C0152438
has exact synonym: Congenital, upward displacement of the scapula
has exact synonym: High scapula
has exact synonym: High shoulder blade
has exact synonym: Sprengel deformity
has OBO namespace: human_phenotype
id: HP:0000912
in subset: hposlim core
type: Class
comment: Sprengel deformity is associated with malposition and dysplasia of the scapula and also involves regional muscle hypoplasia or atrophy, which causes disfigurement and limitation of shoulder movement. Sprengel deformity may be unilateral or bilateral and occur in isolation or as a syndromic component. Abduction of shoulder beyond 90 degrees is impossible.
subclass of: Abnormality of the scapula
notation: HP:0000912

Posterior rib fusion
tree view: Rib fusion
IAO_0000115: Complete or partial merging of the posterior part of adjacent ribs.
has db xref: UMLS:C1842084
has OBO namespace: human_phenotype
id: HP:0000913
type: Class
subclass of: Rib fusion
notation: HP:0000913

Shield chest
tree view: HP_0100625
IAO_0000115: A broad chest.
has db xref: UMLS:C1834124
has db xref: UMLS:C1839248
has exact synonym: Shield chest
has OBO namespace: human_phenotype
has related synonym: Broad chest
id: HP:0000914
type: Class
comment: Stretching of the thoracic cage as a result of fetal edema may contribute to the shield chest with widely spaced nipples that can be obsered in persons with Turner syndrome.
subclass of: HP_0100625
notation: HP:0000914

Pectus excavatum of inferior sternum
tree view: Pectus excavatum
IAO_0000115: Pectus excavatum (defect of the chest wall characterized by depression of the sternum) affecting primarily the inferior region of the sternum.
has db xref: UMLS:C1864796
has exact synonym: Pectus excavatum inferiorly
has OBO namespace: human_phenotype
id: HP:0000915
type: Class
subclass of: Pectus excavatum
notation: HP:0000915

Broad clavicles
tree view: Abnormality of the clavicle
IAO_0000115: Increased width (cross-sectional diameter) of the clavicles.
has alternative id: HP:0006651
has db xref: SNOMEDCT_US:249680009
has db xref: UMLS:C0426801
has exact synonym: Broad collarbone
has OBO namespace: human_phenotype
id: HP:0000916
in subset: hposlim core
type: Class
subclass of: Abnormality of the clavicle
notation: HP:0000916

Superior pectus carinatum
tree view: Pectus carinatum
IAO_0000115: Pectus carinatum affecting primarily the superior part of the sternum.
has db xref: UMLS:C1864795
has exact synonym: Pectus carinatum superiorly
has OBO namespace: human_phenotype
id: HP:0000917
type: Class
subclass of: Pectus carinatum
notation: HP:0000917

Scapular exostoses
tree view: Abnormality of the scapula
tree view: HP_0100777
IAO_0000115: The presence of multiple exostoses on the scapula. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage.
has db xref: UMLS:C1851415
has exact synonym: Scapulae exostoses
has exact synonym: Shoulder bone exostoes
has OBO namespace: human_phenotype
id: HP:0000918
type: Class
subclass of: Abnormality of the scapula
subclass of: HP_0100777
notation: HP:0000918

Abnormality of the costochondral junction
tree view: Abnormality of the ribs
IAO_0000115: Any anomaly of the costochondral junction. The costochondral junctions are located between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum.
has db xref: UMLS:C4021791
has exact synonym: Costochondral juctions abnormal
has OBO namespace: human_phenotype
id: HP:0000919
type: Class
comment: The first seven pairs of ribs are connected with the sternum; the next three ribs are each articulated with the lower border of the cartilage of the preceding rib; the last two ribs have pointed extremities, which do not connect with the sternum.
subclass of: Abnormality of the ribs
notation: HP:0000919

Enlargement of the costochondral junction
tree view: Abnormality of the costochondral junction
IAO_0000115: Abnormally increased size of the costochondral junctions, which are located between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum.
has alternative id: HP:0006620
has db xref: UMLS:C1857180
has exact synonym: Costochondral thickening
has exact synonym: Enlarged costochondral junctions
has exact synonym: Prominent costochondral junction
has exact synonym: Wide costochondral junctions
has exact synonym: Widened costochondral junction
has OBO namespace: human_phenotype
id: HP:0000920
in subset: hposlim core
type: Class
subclass of: Abnormality of the costochondral junction
notation: HP:0000920

Missing ribs
tree view: HP_0006712
IAO_0000115: A developmental anomaly with absence of one or more ribs.
has alternative id: HP:0000881
has alternative id: HP:0006627
has db xref: SNOMEDCT_US:249695006
has db xref: UMLS:C0426816
has exact synonym: Absent ribs
has exact synonym: Decreased rib number
has exact synonym: Missing ribs
has OBO namespace: human_phenotype
id: HP:0000921
in subset: hposlim core
type: Class
subclass of: HP_0006712
notation: HP:0000921

Posterior rib cupping
tree view: Cupped ribs
IAO_0000115: Wide, concave posterior rib end.
has alternative id: HP:0006622
has db xref: UMLS:C1837483
has exact synonym: Anterior and posterior rib cupping
has OBO namespace: human_phenotype
id: HP:0000922
type: Class
subclass of: Cupped ribs
notation: HP:0000922

Beaded ribs
tree view: Abnormality of the ribs
IAO_0000115: The presence of a row of multiple rounded expansions (beadlike prominences) at the junction of a rib and its cartilage.
has db xref: SNOMEDCT_US:15214001
has db xref: SNOMEDCT_US:249702007
has db xref: UMLS:C0426824
has OBO namespace: human_phenotype
id: HP:0000923
type: Class
comment: Beaded ribs, sometimes referred to as rachitic rosary, were often seen in rachitic children.
subclass of: Abnormality of the ribs
notation: HP:0000923

Abnormality of the skeletal system
tree view: Phenotypic abnormality
IAO_0000115: An abnormality of the skeletal system.
has db xref: UMLS:C4021790
has exact synonym: Abnormality of the skeletal system
has exact synonym: Skeletal abnormalities
has exact synonym: Skeletal anomalies
has OBO namespace: human_phenotype
id: HP:0000924
type: Class
subclass of: Phenotypic abnormality
notation: HP:0000924

Abnormality of the vertebral column
tree view: HP_0009121
IAO_0000115: Any abnormality of the vertebral column.
has db xref: UMLS:C4020882
has db xref: UMLS:C4021789
has exact synonym: Abnormal spine
has exact synonym: Abnormal vertebral column
has exact synonym: Abnormality of the spine
has exact synonym: Abnormality of the vertebral column
has OBO namespace: human_phenotype
has related synonym: Abnormality of the backbone
id: HP:0000925
in subset: hposlim core
type: Class
subclass of: HP_0009121
notation: HP:0000925

Platyspondyly
tree view: Abnormal form of the vertebral bodies
IAO_0000115: A flattened vertebral body shape with reduced distance between the vertebral endplates.
has alternative id: HP:0002940
has alternative id: HP:0003421
has alternative id: HP:0004595
has alternative id: HP:0004623
has alternative id: HP:0004627
has alternative id: HP:0005123
has alternative id: HP:0005644
has alternative id: HP:0008466
has db xref: UMLS:C1844704
has exact synonym: Flat vertebral bodies
has exact synonym: Flattened vertebrae
has exact synonym: Flattened vertebral bodies
has OBO namespace: human_phenotype
id: HP:0000926
in subset: hposlim core
type: Class
subclass of: Abnormal form of the vertebral bodies
notation: HP:0000926

Abnormality of skeletal maturation
tree view: HP_0011843
IAO_0000115: The bones of the skeleton undergo a series of characteristic changes in size, shape, and calcification from fetal life until puberty. An abnormality of this process can include delayed or accelerated skeletal maturation, or deviation of some, but not all bones from the expected patterns of maturation.
has db xref: UMLS:C4025818
has exact synonym: Abnormality of skeletal maturation
has OBO namespace: human_phenotype
id: HP:0000927
type: Class
subclass of: HP_0011843
notation: HP:0000927

HP_0000928
IAO_0000231: IAO_0000227
IAO_0100001: Delayed skeletal maturation
type: Class
deprecated: true
notation: HP:0000928

Abnormality of the skull
tree view: Abnormality of the head
tree view: HP_0009121
IAO_0000115: An abnormality of the skull, the bony framework of the head which is comprised of eight cranial and fourteen facial bones.
has db xref: UMLS:C0235942
has exact synonym: Abnormality of the skull
has narrow synonym: Abnormality of the skull bones
has OBO namespace: human_phenotype
id: HP:0000929
type: Class
subclass of: Abnormality of the head
subclass of: HP_0009121
notation: HP:0000929

Elevated imprint of the transverse sinuses
tree view: Abnormality of the skull base
has db xref: UMLS:C4025817
has exact synonym: Elevated imprint of occipital bone over the transverse sinuses
has exact synonym: Elevated imprint of posterior skull bones over the transverse sinuses
has exact synonym: Thinning and bulging of occipital bone over the transverse sinuses
has exact synonym: Thinning and bulging of posterior skull bones over the transverse sinuses
has OBO namespace: human_phenotype
id: HP:0000930
type: Class
subclass of: Abnormality of the skull base
notation: HP:0000930

Thinning and bulging of the posterior fossa bones
tree view: Abnormality of the posterior cranial fossa
has db xref: UMLS:C4021788
has db xref: UMLS:C4280608
has exact synonym: Thinning and bulging of posterior fossa bones
has exact synonym: Thinning and bulging of posterior skull bones
has narrow synonym: Thinning and bulging of occipital bone of skull
has OBO namespace: human_phenotype
id: HP:0000931
type: Class
subclass of: Abnormality of the posterior cranial fossa
notation: HP:0000931

Abnormality of the posterior cranial fossa
tree view: Abnormality of the skull base
IAO_0000115: An abnormality of the fossa cranii posterior (the posterior fossa), which is made up primarily of the occipital bone and which surrounds to the foramen magnum.
has alternative id: HP:0007306
has db xref: UMLS:C3280768
has exact synonym: Abnormality of the posterior fossa
has exact synonym: Posterior fossa anomaly
has OBO namespace: human_phenotype
id: HP:0000932
type: Class
comment: This finding can be demonstrated by cerebral magnetic resonance imaging or computer tomography.
subclass of: Abnormality of the skull base
notation: HP:0000932

Posterior fossa cyst at the fourth ventricle
tree view: HP_0007109
tree view: HP_0007291
has db xref: UMLS:C4025816
has OBO namespace: human_phenotype
id: HP:0000933
type: Class
subclass of: HP_0007109
subclass of: HP_0007291
notation: HP:0000933

Chondrocalcinosis
tree view: Abnormal joint morphology
tree view: HP_0010766
tree view: HP_0100685
IAO_0000115: Radiographic evidence of articular calcification that represent calcium pyrophosphate depositions in soft tissue surrounding joints and at the insertions of tendons near joints (Entheses/Sharpey fibers) .
has db xref: MSH:D002805
has db xref: SNOMEDCT_US:201637001
has db xref: SNOMEDCT_US:239832006
has db xref: SNOMEDCT_US:239838005
has db xref: UMLS:C0553730
has exact synonym: Calcium deposits in joints
has OBO namespace: human_phenotype
id: HP:0000934
type: Class
subclass of: Abnormal joint morphology
subclass of: HP_0010766
subclass of: HP_0100685
notation: HP:0000934

Thickened cortex of long bones
tree view: HP_0011314
tree view: HP_0100039
IAO_0000115: Abnormal thickening of the cortex of long bones.
has db xref: UMLS:C1840418
has exact synonym: Broad cortex of long bones
has exact synonym: Cortical thickening of the long bones
has exact synonym: Thickened cortices of long bones
has OBO namespace: human_phenotype
id: HP:0000935
type: Class
subclass of: HP_0011314
subclass of: HP_0100039
notation: HP:0000935

HP_0000936
IAO_0000231: IAO_0000227
IAO_0100001: HP_0005930
type: Class
deprecated: true
notation: HP:0000936

HP_0000937
IAO_0000231: IAO_0000227
IAO_0100001: HP_0010579
type: Class
deprecated: true
notation: HP:0000937

Osteopenia
tree view: Reduced bone mineral density
IAO_0000115: Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.
has alternative id: HP:0002768
has alternative id: HP:0002799
has alternative id: HP:0002800
has db xref: MSH:D001851
has db xref: SNOMEDCT_US:312894000
has db xref: SNOMEDCT_US:78441005
has db xref: UMLS:C0029453
has db xref: UMLS:C0747078
has exact synonym: Generalized osteopenia
has OBO namespace: human_phenotype
id: HP:0000938
type: Class
subclass of: Reduced bone mineral density
notation: HP:0000938

Osteoporosis
tree view: Reduced bone mineral density
IAO_0000115: Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD).
has alternative id: HP:0002774
has db xref: MSH:D010024
has db xref: SNOMEDCT_US:64859006
has db xref: UMLS:C0029456
has OBO namespace: human_phenotype
id: HP:0000939
type: Class
comment: Osteoporosis is a disease that is characterized by low bone mass, deterioration of bone tissue, and disruption of bone microarchitecture: it can lead to compromised bone strength and an increase in the risk of fractures.
subclass of: Reduced bone mineral density
notation: HP:0000939

Abnormal diaphysis morphology
tree view: HP_0011314
IAO_0000115: An abnormality of the structure or form of the diaphysis, i.e., of the main or mid-section (shaft) of a long bone.
has db xref: UMLS:C4021787
has exact synonym: Abnormal shape of shaft of long bone
has exact synonym: Abnormality of the diaphyses
has OBO namespace: human_phenotype
id: HP:0000940
type: Class
subclass of: HP_0011314
notation: HP:0000940

Short diaphyses
tree view: Abnormal diaphysis morphology
has db xref: UMLS:C4025815
has exact synonym: Short shaft of long bone
has OBO namespace: human_phenotype
id: HP:0000941
type: Class
subclass of: Abnormal diaphysis morphology
notation: HP:0000941

HP_0000942
IAO_0000231: IAO_0000227
IAO_0100001: HP_0008428
type: Class
deprecated: true
notation: HP:0000942

Dysostosis multiplex
tree view: HP_0011842
has alternative id: HP:0002760
has db xref: MSH:D008059
has db xref: SNOMEDCT_US:254069004
has db xref: SNOMEDCT_US:65327002
has db xref: UMLS:C0086795
has OBO namespace: human_phenotype
id: HP:0000943
type: Class
subclass of: HP_0011842
notation: HP:0000943

Abnormality of the metaphysis
tree view: Abnormality of limb bone morphology
tree view: HP_0011314
IAO_0000115: An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood.
has alternative id: HP:0006506
has db xref: UMLS:C4025814
has exact synonym: Abnormality of the wide portion of a long bone
has OBO namespace: human_phenotype
id: HP:0000944
type: Class
subclass of: Abnormality of limb bone morphology
subclass of: HP_0011314
notation: HP:0000944

HP_0000945
IAO_0000231: IAO_0000227
IAO_0100001: Flared metaphysis
type: Class
deprecated: true
notation: HP:0000945

Hypoplastic ilia
tree view: Abnormality of the ilium
IAO_0000115: Underdevelopment of the ilium.
has alternative id: HP:0003176
has alternative id: HP:0003178
has broad synonym: Small wings of the pelvic girdle
has db xref: UMLS:C1861218
has db xref: UMLS:C4280607
has exact synonym: Short and small iliac bones
has exact synonym: Small iliac bones
has OBO namespace: human_phenotype
id: HP:0000946
type: Class
subclass of: Abnormality of the ilium
notation: HP:0000946

Dumbbell-shaped long bone
tree view: Metaphyseal widening
IAO_0000115: An abnormal appearance of the long bones with resemblance to a dumbbell, a short bar with a weight at each end. That is, the long bone is shortened and displays flaring (widening) of the metaphyses.
has alternative id: HP:0005061
has alternative id: HP:0005071
has alternative id: HP:0005075
has db xref: UMLS:C2749582
has exact synonym: Dumbbell widening of long bone metaphyses
has exact synonym: Dumbbell-shaped long bone
has OBO namespace: human_phenotype
id: HP:0000947
type: Class
subclass of: Metaphyseal widening
notation: HP:0000947

HP_0000948
IAO_0000231: IAO_0000227
IAO_0100001: HP_0100255
type: Class
deprecated: true
notation: HP:0000948

HP_0000949
IAO_0000231: IAO_0000227
IAO_0100001: Short long bone
type: Class
deprecated: true
notation: HP:0000949

HP_0000950
IAO_0000231: IAO_0000227
IAO_0100001: Broad ribs
type: Class
deprecated: true
notation: HP:0000950

Abnormality of the skin
tree view: Abnormality of the integument
IAO_0000115: An abnormality of the skin.
has alternative id: HP:0001478
has alternative id: HP:0001479
has alternative id: HP:0005591
has alternative id: HP:0006736
has alternative id: HP:0007415
has alternative id: HP:0007580
has db xref: MSH:D012868
has db xref: MSH:D012871
has db xref: SNOMEDCT_US:199879009
has db xref: SNOMEDCT_US:95320005
has db xref: UMLS:C0037268
has db xref: UMLS:C0037274
has exact synonym: Abnormality of the skin
has exact synonym: dermatopathy
has exact synonym: dermopathy
has OBO namespace: human_phenotype
has related synonym: Skin abnormality
id: HP:0000951
in subset: hposlim core
type: Class
subclass of: Abnormality of the integument
notation: HP:0000951

Jaundice
tree view: Dermatological manifestations of systemic disorders
tree view: Cholestasis
IAO_0000115: Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.
has db xref: MSH:D007565
has db xref: SNOMEDCT_US:18165001
has db xref: UMLS:C0022346
has exact synonym: Icterus
has exact synonym: Jaundice
has exact synonym: Yellow skin
has exact synonym: Yellowing of the skin
has OBO namespace: human_phenotype
id: HP:0000952
type: Class
subclass of: Dermatological manifestations of systemic disorders
subclass of: Cholestasis
notation: HP:0000952

Hyperpigmentation of the skin
tree view: Abnormality of skin pigmentation
IAO_0000115: A darkening of the skin related to an increase in melanin production and deposition.
has alternative id: HP:0007527
has db xref: MSH:D017495
has db xref: SNOMEDCT_US:4830009
has db xref: SNOMEDCT_US:49765009
has db xref: UMLS:C0162834
has exact synonym: Cutaneous hyperpigmentation
has exact synonym: Hyperpigmented lesion
has exact synonym: Increased skin pigmentation
has exact synonym: Patchy darkened skin
has exact synonym: Skin hyperpigmentation
has OBO namespace: human_phenotype
has related synonym: Melanoderma
has related synonym: Melanodermia
id: HP:0000953
type: Class
subclass of: Abnormality of skin pigmentation
notation: HP:0000953

Single transverse palmar crease
tree view: HP_0010490
IAO_0000115: The distal and proximal transverse palmar creases are merged into a single transverse palmar crease.
has alternative id: HP:0006214
has db xref: SNOMEDCT_US:248409006
has db xref: UMLS:C0424731
has exact synonym: Simian crease
has exact synonym: Simian creases
has exact synonym: Simian line
has exact synonym: Single flexion crease
has exact synonym: Single palmar crease
has exact synonym: Single palmar creases
has exact synonym: Single transverse palmar creases
has exact synonym: Transverse palmar crease
has OBO namespace: human_phenotype
id: HP:0000954
in subset: hposlim core
type: Class
comment: The presence of a single palmar crease (instead of the two palmar creases that are typically present).
subclass of: HP_0010490
notation: HP:0000954

HP_0000955
IAO_0000231: IAO_0000227
IAO_0100001: HP_0008064
type: Class
deprecated: true
notation: HP:0000955

Acanthosis nigricans
tree view: HP_0011368
IAO_0000115: A dermatosis characterized by thickened, hyperpigmented plaques, typically on the intertriginous surfaces and neck.
has alternative id: HP:0007498
has alternative id: HP:0007518
has alternative id: HP:0007591
has db xref: MSH:D000052
has db xref: SNOMEDCT_US:402599005
has db xref: SNOMEDCT_US:72129000
has db xref: UMLS:C0000889
has exact synonym: Darkened and thickened skin
has exact synonym: Keratosis nigricans
has OBO namespace: human_phenotype
id: HP:0000956
in subset: secondary consequence
type: Class
comment: Acanthosis nigricans is seen in a variety of syndromes including those characterized by insulin resistance or fibroblast growth factor receptor (FGFR) mutations, and may also occur as an adverse effect of several medications that promote hyperinsulinemia.
subclass of: HP_0011368
notation: HP:0000956

Cafe-au-lait spot
tree view: HP_0011355
IAO_0000115: Cafe-au-lait spots are hyperpigmented lesions that can vary in color from light brown to dark brown with smooth borders and having a size of 1.5 cm or more in adults and 0.5 cm or more in children.
has alternative id: HP:0005601
has alternative id: HP:0007454
has broad synonym: Birthmark
has broad synonym: Flat light-brown mark on skin
has db xref: MSH:D019080
has db xref: SNOMEDCT_US:201281002
has db xref: SNOMEDCT_US:51089004
has db xref: UMLS:C0221263
has db xref: UMLS:C0265974
has exact synonym: Cafe au lait spots
has exact synonym: Cafe-au-lait macule
has exact synonym: Cafe-au-lait macules
has OBO namespace: human_phenotype
has related synonym: Cafe-au-lait spots
id: HP:0000957
type: Class
comment: The phrase cafe-au-lait comes from the French word for milk-coffee. A single cafe-au-lait spot can be an isolated finding in otherwise normal individuals. Multiple cafe-au-lait spots often indicate the presence of neurofibromatosis type 1 but may also be seen in other diseases including McCune-Albright syndrome, tuberous sclerosis, and Fanconi anemia.
subclass of: HP_0011355
notation: HP:0000957

Dry skin
tree view: HP_0011121
IAO_0000115: Skin characterized by the lack of natural or normal moisture.
has db xref: MEDDRA:10048222
has db xref: SNOMEDCT_US:16386004
has db xref: UMLS:C0151908
has db xref: UMLS:C0259817
has exact synonym: Dry skin
has exact synonym: Xerosis
has OBO namespace: human_phenotype
id: HP:0000958
in subset: hposlim core
type: Class
subclass of: HP_0011121
notation: HP:0000958

HP_0000959
IAO_0000231: IAO_0000227
IAO_0100001: Bruising susceptibility
type: Class
deprecated: true
notation: HP:0000959

Sacral dimple
tree view: HP_0010767
tree view: HP_0010781
IAO_0000115: A subtype of skin dimples presenting as an indentation in the skin of the intergluteal cleft .
has db xref: SNOMEDCT_US:249729002
has db xref: SNOMEDCT_US:311897005
has db xref: UMLS:C0426848
has exact synonym: Pilonidal dimple
has exact synonym: Spinal dimple
has OBO namespace: human_phenotype
id: HP:0000960
in subset: hposlim core
type: Class
subclass of: HP_0010767
subclass of: HP_0010781
notation: HP:0000960

Cyanosis
tree view: Dermatological manifestations of systemic disorders
tree view: Functional respiratory abnormality
IAO_0000115: Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood.
has db xref: MSH:D003490
has db xref: SNOMEDCT_US:119419001
has db xref: SNOMEDCT_US:3415004
has db xref: UMLS:C0010520
has exact synonym: Blue discoloration of the skin
has OBO namespace: human_phenotype
id: HP:0000961
type: Class
subclass of: Dermatological manifestations of systemic disorders
subclass of: Functional respiratory abnormality
notation: HP:0000961

Hyperkeratosis
tree view: HP_0011368
IAO_0000115: Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum.
has alternative id: HP:0007523
has db xref: MEDDRA:10020649
has db xref: SNOMEDCT_US:26996000
has db xref: SNOMEDCT_US:396228006
has db xref: SNOMEDCT_US:399955009
has db xref: UMLS:C0870082
has OBO namespace: human_phenotype
id: HP:0000962
in subset: hposlim core
type: Class
subclass of: HP_0011368
notation: HP:0000962

Thin skin
tree view: HP_0008065
IAO_0000115: Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin.
has alternative id: HP:0001020
has db xref: SNOMEDCT_US:277797007
has db xref: UMLS:C0423757
has exact synonym: Thin skin
has OBO namespace: human_phenotype
id: HP:0000963
in subset: hposlim core
type: Class
subclass of: HP_0008065
notation: HP:0000963

Eczema
tree view: HP_0011123
IAO_0000115: Eczema is a form of dermatitis. The term eczema is broadly applied to a range of persistent skin conditions and can be related to a number of underlying conditions. Manifestations of eczema can include dryness and recurring skin rashes with redness, skin edema, itching and dryness, crusting, flaking, blistering, cracking, oozing, or bleeding.
has alternative id: HP:0001481
has db xref: MSH:D004485
has db xref: SNOMEDCT_US:281104002
has db xref: SNOMEDCT_US:43116000
has db xref: UMLS:C0013595
has exact synonym: Eczema
has OBO namespace: human_phenotype
id: HP:0000964
type: Class
comment: Eczema has several forms including atopic dermatitis, contact dermatitis, dyshidrotic eczema, nummular eczema, seborrheic dermatitis, and stasis dermatitis.
subclass of: HP_0011123
notation: HP:0000964

Cutis marmorata
tree view: HP_0011276
IAO_0000115: A reticular discoloration of the skin with cyanotic (reddish-blue appearing) areas surrounding pale central areas due to dilation of capillary blood vessels and stagnation of blood within the vessels. Cutis marmorata, also called livedo reticularis, generally occurs on the legs, arms and trunk and is often more severe in cold weather.
has alternative id: HP:0001037
has db xref: SNOMEDCT_US:26825009
has db xref: UMLS:C0263401
has exact synonym: Livedo reticularis
has OBO namespace: human_phenotype
id: HP:0000965
in subset: hposlim core
type: Class
subclass of: HP_0011276
notation: HP:0000965

Hypohidrosis
tree view: HP_0007550
IAO_0000115: Abnormally diminished capacity to sweat.
has alternative id: HP:0007551
has alternative id: HP:0007571
has db xref: MEDDRA:10021013
has db xref: MSH:D007007
has db xref: SNOMEDCT_US:45004005
has db xref: UMLS:C0020620
has exact synonym: Decreased ability to sweat
has exact synonym: Decreased sweating
has exact synonym: Inadequate sweating
has exact synonym: Oligohidrosis
has exact synonym: Sweating, decreased
has OBO namespace: human_phenotype
id: HP:0000966
in subset: hposlim core
type: Class
subclass of: HP_0007550
notation: HP:0000966

Petechiae
tree view: HP_0031365
IAO_0000115: Petechiae are pinpoint-sized reddish/purple spots, resembling a rash, that appear just under the skin or a mucous membrane when capillaries have ruptured and some superficial bleeding into the skin has happened. This term refers to an abnormally increased susceptibility to developing petechiae.
has db xref: MEDDRA:10034754
has db xref: MSH:D011693
has db xref: SNOMEDCT_US:271813007
has db xref: SNOMEDCT_US:50091001
has db xref: UMLS:C0031256
has OBO namespace: human_phenotype
id: HP:0000967
in subset: hposlim core
type: Class
subclass of: HP_0031365
notation: HP:0000967

Ectodermal dysplasia
tree view: HP_0011354
IAO_0000115: Ectodermal dysplasia is a group of conditions in which there is abnormal development of the skin, hair, nails, teeth, or sweat glands.
has alternative id: HP:0007615
has db xref: MSH:D004476
has db xref: SNOMEDCT_US:254154003
has db xref: SNOMEDCT_US:8654005
has db xref: UMLS:C0013575
has OBO namespace: human_phenotype
id: HP:0000968
type: Class
comment: This term is kept in the HPO for now as 'ectodermal dysplasia' has been recorded as a phenotypic of other disorders such as DEAFNESS WITH ANHIDROTIC ECTODERMAL DYSPLASIA (MIM125050). Nevertheless it is preferable to use precise descriptions of the phenotypic abnormalities and this term should not be used for new annotations. It will be made obsolete in the future.
subclass of: HP_0011354
notation: HP:0000968

Edema
tree view: HP_0011032
IAO_0000115: An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.
has alternative id: HP:0000990
has db xref: MSH:D004487
has db xref: SNOMEDCT_US:20741006
has db xref: SNOMEDCT_US:267038008
has db xref: SNOMEDCT_US:423666004
has db xref: SNOMEDCT_US:79654002
has db xref: UMLS:C0013604
has exact synonym: Dropsy
has exact synonym: Fluid retention
has exact synonym: Hydrops
has exact synonym: Oedema
has exact synonym: Water retention
has OBO namespace: human_phenotype
id: HP:0000969
type: Class
comment: Edema may be related to one or more of the following factors: 1) increased capillary hydrostatic pressure, 2) decreased osmotic pressure of plasma, 3) decreased tissue tension and lymphatic drainage, 4) increased osmotic pressure of tissue fluids, and 5) increased capillary permeability.
subclass of: HP_0011032
notation: HP:0000969

Anhidrosis
tree view: HP_0025276
IAO_0000115: Inability to sweat.
has db xref: MEDDRA:10002512
has db xref: MSH:D007007
has db xref: SNOMEDCT_US:14662005
has db xref: SNOMEDCT_US:39659002
has db xref: UMLS:C0003028
has exact synonym: Lack of sweating
has exact synonym: Sudomotor dysfunction
has exact synonym: Sweating dysfunction
has OBO namespace: human_phenotype
id: HP:0000970
in subset: hposlim core
type: Class
subclass of: HP_0025276
notation: HP:0000970

Abnormal sweat gland morphology
tree view: HP_0011138
IAO_0000115: Any structural abnormality of the sweat gland.
has db xref: MSH:D013543
has db xref: SNOMEDCT_US:88232005
has db xref: UMLS:C0038986
has db xref: UMLS:C0262643
has db xref: UMLS:C4020881
has exact synonym: Abnormality of the sweat gland
has OBO namespace: human_phenotype
has related synonym: Abnormalities of sweating
has related synonym: Sweat gland disease
id: HP:0000971
type: Class
subclass of: HP_0011138
notation: HP:0000971

Palmoplantar hyperkeratosis
tree view: HP_0007556
tree view: HP_0010765
IAO_0000115: Hyperkeratosis affecting the palm of the hand and the sole of the foot.
has db xref: MSH:D007645
has db xref: SNOMEDCT_US:706885006
has db xref: UMLS:C0022596
has exact synonym: Hyperkeratosis of palms and soles
has exact synonym: Hyperkeratosis of the palms and soles
has exact synonym: Palmoplantar keratoses
has exact synonym: Palmoplantar keratosis
has exact synonym: Thick palms and soles
has exact synonym: Thickened palms and soles
has exact synonym: Thickening of the outer layer of the skin of the palms and soles
has OBO namespace: human_phenotype
id: HP:0000972
in subset: hposlim core
type: Class
subclass of: HP_0007556
subclass of: HP_0010765
notation: HP:0000972

Cutis laxa
tree view: HP_0008067
IAO_0000115: Wrinkled, redundant, inelastic and sagging skin.
has broad synonym: Hanging skin
has db xref: MSH:C531660
has db xref: MSH:D003483
has db xref: SNOMEDCT_US:58588007
has db xref: UMLS:C0010495
has db xref: UMLS:C2930812
has db xref: UMLS:C4280606
has exact synonym: Chalazoderma
has exact synonym: Cutaneous laxity
has exact synonym: Dermatochalasia
has exact synonym: Dermatomegaly
has exact synonym: Elastolysis
has exact synonym: Generalized elastolysis
has exact synonym: Hypoelastic skin
has exact synonym: Inelastic skin
has exact synonym: Lax skin
has exact synonym: Loose and inelastic skin
has exact synonym: Loose skin
has exact synonym: Skin laxity
has OBO namespace: human_phenotype
id: HP:0000973
type: Class
subclass of: HP_0008067
notation: HP:0000973

Hyperextensible skin
tree view: HP_0008067
IAO_0000115: A condition in which the skin can be stretched beyond normal, and then returns to its initial position.
has alternative id: HP:0007389
has alternative id: HP:0007493
has alternative id: HP:0007578
has db xref: UMLS:C0241074
has exact synonym: Hyperelastic skin
has exact synonym: Skin hyperelasticity
has exact synonym: Skin hyperextensibility
has exact synonym: Stretchable skin
has OBO namespace: human_phenotype
id: HP:0000974
in subset: hposlim core
type: Class
comment: Skin hyperelasticity is to be distinguished from cutis laxa, which refers to extra, redundant skin which tends to hang in folds.
subclass of: HP_0008067
notation: HP:0000974

Hyperhidrosis
tree view: HP_0007550
IAO_0000115: Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather.
has alternative id: HP:0001011
has alternative id: HP:0001064
has alternative id: HP:0007424
has db xref: MEDDRA:10020642
has db xref: MSH:D006945
has db xref: MSH:D013546
has db xref: SNOMEDCT_US:161857006
has db xref: SNOMEDCT_US:312230002
has db xref: SNOMEDCT_US:364538006
has db xref: SNOMEDCT_US:415690000
has db xref: SNOMEDCT_US:415691001
has db xref: SNOMEDCT_US:52613005
has db xref: UMLS:C0020458
has db xref: UMLS:C0038990
has db xref: UMLS:C0700590
has exact synonym: Diaphoresis
has exact synonym: Excessive sweating
has exact synonym: Increased sweating
has exact synonym: Profuse sweating
has exact synonym: Sweating
has exact synonym: Sweating profusely
has exact synonym: Sweating, increased
has OBO namespace: human_phenotype
id: HP:0000975
in subset: hposlim core
type: Class
comment: Ther terms hyperhidrosis and diaphoresis are often used interchangeably to describe excessive perspiration. Diaphoresis can be used to refer to excessive sweating that occurs with certain diseases (secondary hyperhidrosis). Since the HPO does not intend to provide coess for etiologies or diseases, we will use these terms interchangeably to refer to excessive perspiration without an appropriate cause such as hot and humid weather.
subclass of: HP_0007550
notation: HP:0000975

Eczematoid dermatitis
tree view: Eczema
has db xref: MSH:D004485
has db xref: SNOMEDCT_US:281104002
has db xref: SNOMEDCT_US:43116000
has db xref: UMLS:C0013595
has OBO namespace: human_phenotype
id: HP:0000976
type: Class
subclass of: Eczema
notation: HP:0000976

Soft skin
tree view: HP_0010647
IAO_0000115: Subjective impression of increased softness upon palpitation of the skin.
has db xref: UMLS:C0241178
has db xref: UMLS:C1844592
has exact synonym: Soft skin
has OBO namespace: human_phenotype
has related synonym: Velvety skin
has related synonym: Velvety skin texture
id: HP:0000977
in subset: hposlim core
type: Class
subclass of: HP_0010647
notation: HP:0000977

Bruising susceptibility
tree view: Subcutaneous hemorrhage
IAO_0000115: An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.
has alternative id: HP:0000959
has alternative id: HP:0007433
has alternative id: HP:0007472
has db xref: MSH:D004438
has db xref: SNOMEDCT_US:302227002
has db xref: SNOMEDCT_US:424131007
has db xref: SNOMEDCT_US:425075004
has db xref: SNOMEDCT_US:77643000
has db xref: UMLS:C0013491
has db xref: UMLS:C0423798
has exact synonym: Bruisability
has exact synonym: Bruise easily
has exact synonym: Bruising susceptibility
has exact synonym: Easy bruisability
has exact synonym: Easy bruising
has OBO namespace: human_phenotype
id: HP:0000978
type: Class
comment: An ecchymosis is defined as being larger than 1 cm in size.
subclass of: Subcutaneous hemorrhage
notation: HP:0000978

Purpura
tree view: Subcutaneous hemorrhage
IAO_0000115: Purpura (from Latin: purpura, meaning "purple") is the appearance of red or purple discolorations on the skin that do not blanch on applying pressure. They are caused by bleeding underneath the skin. This term refers to an abnormally increased susceptibility to developing purpura. Purpura are larger than petechiae.
has broad synonym: Blood spots
has db xref: MSH:D011693
has db xref: SNOMEDCT_US:12393003
has db xref: SNOMEDCT_US:387778001
has db xref: SNOMEDCT_US:423902002
has db xref: UMLS:C0034150
has exact synonym: Red or purple spots on the skin
has OBO namespace: human_phenotype
id: HP:0000979
in subset: hposlim core
type: Class
comment: Depending on their size, purpuric lesions are traditionally classified as petechiae (pinpoint hemorrhages less than 2 mm in greatest diameter), purpura (2 mm to 1 cm) or ecchymoses (more than 1 cm).
subclass of: Subcutaneous hemorrhage
notation: HP:0000979

Pallor
tree view: HP_0011121
IAO_0000115: Abnormally pale skin.
has db xref: MSH:D010167
has db xref: SNOMEDCT_US:398979000
has db xref: UMLS:C0030232
has OBO namespace: human_phenotype
has related synonym: Paleness
has related synonym: Skin paleness
id: HP:0000980
type: Class
subclass of: HP_0011121
notation: HP:0000980

HP_0000981
IAO_0000231: IAO_0000227
IAO_0100001: HP_0007417
type: Class
deprecated: true
notation: HP:0000981

Palmoplantar keratoderma
tree view: Hyperkeratosis
IAO_0000115: Abnormal thickening of the skin of the palms of the hands and the soles of the feet.
has db xref: MSH:D007645
has db xref: SNOMEDCT_US:706885006
has db xref: UMLS:C0022596
has exact synonym: Palmar and plantar keratoderma
has exact synonym: Thickening of palms and soles
has OBO namespace: human_phenotype
id: HP:0000982
type: Class
subclass of: Hyperkeratosis
notation: HP:0000982

HP_0000983
IAO_0000231: IAO_0000227
IAO_0100001: HP_0005406
type: Class
deprecated: true
notation: HP:0000983

HP_0000984
IAO_0000231: IAO_0000227
IAO_0100001: HP_0007513
type: Class
deprecated: true
notation: HP:0000984

HP_0000985
IAO_0000231: IAO_0000227
IAO_0100001: Dermal atrophy
type: Class
deprecated: true
notation: HP:0000985

HP_0000986
IAO_0000231: IAO_0000227
IAO_0100001: HP_0006579
type: Class
deprecated: true
notation: HP:0000986

Atypical scarring of skin
tree view: HP_0011355
tree view: HP_0100699
IAO_0000115: Atypically scarred skin .
has db xref: UMLS:C4021786
has exact synonym: Atypical scarring
has exact synonym: Atypical scarring of skin
has OBO namespace: human_phenotype
id: HP:0000987
type: Class
subclass of: HP_0011355
subclass of: HP_0100699
notation: HP:0000987

Skin rash
tree view: HP_0011123
IAO_0000115: A red eruption of the skin.
has broad synonym: Rash
has db xref: MEDDRA:10037844
has db xref: MSH:D005076
has db xref: SNOMEDCT_US:112625008
has db xref: SNOMEDCT_US:271807003
has db xref: UMLS:C0015230
has exact synonym: Exanthem
has exact synonym: Skin rash
has OBO namespace: human_phenotype
id: HP:0000988
type: Class
subclass of: HP_0011123
notation: HP:0000988

Pruritus
tree view: HP_0011122
IAO_0000115: Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus.
has db xref: MSH:D011537
has db xref: SNOMEDCT_US:279333002
has db xref: SNOMEDCT_US:418290006
has db xref: SNOMEDCT_US:418363000
has db xref: SNOMEDCT_US:424492005
has db xref: UMLS:C0033774
has exact synonym: Itching
has exact synonym: Itchy skin
has exact synonym: Skin itching
has exact synonym: pruritis
has OBO namespace: human_phenotype
id: HP:0000989
in subset: hposlim core
type: Class
subclass of: HP_0011122
notation: HP:0000989

HP_0000990
IAO_0000231: IAO_0000227
IAO_0100001: Edema
type: Class
deprecated: true
notation: HP:0000990

Xanthomatosis
tree view: HP_0011355
IAO_0000115: The presence of multiple xanthomas (xanthomata) in the skin. Xanthomas are yellowish, firm, lipid-laden nodules in the skin.
has db xref: MSH:D014973
has db xref: SNOMEDCT_US:63103006
has db xref: UMLS:C0043325
has exact synonym: Xanthomata
has exact synonym: Yellow bumps of fatty deposits on skin
has OBO namespace: human_phenotype
id: HP:0000991
type: Class
subclass of: HP_0011355
notation: HP:0000991

Cutaneous photosensitivity
tree view: HP_0011354
IAO_0000115: An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin.
has alternative id: HP:0005594
has alternative id: HP:0006831
has alternative id: HP:0007538
has db xref: MSH:D010787
has db xref: SNOMEDCT_US:90128006
has db xref: UMLS:C0349506
has exact synonym: Photosensitive skin
has exact synonym: Photosensitive skin rashes
has exact synonym: Photosensitivity
has exact synonym: Sensitivity to sunlight
has exact synonym: Skin photosensitivity
has exact synonym: Sun sensitivity
has OBO namespace: human_phenotype
id: HP:0000992
in subset: hposlim core
type: Class
subclass of: HP_0011354
notation: HP:0000992

Molluscoid pseudotumors
tree view: HP_0011355
IAO_0000115: Bluish-grey, spongy nodules associated with scars over pressure points and easily traumatized areas like the elbows and knees.
has db xref: UMLS:C1844597
has exact synonym: Molluscoid pseudotumor
has OBO namespace: human_phenotype
id: HP:0000993
type: Class
subclass of: HP_0011355
notation: HP:0000993

HP_0000994
IAO_0000231: IAO_0000227
IAO_0100001: HP_0007385
type: Class
deprecated: true
notation: HP:0000994

Melanocytic nevus
tree view: Abnormality of skin pigmentation
tree view: Nevus
IAO_0000115: A oval and round, colored (usually medium-to dark brown, reddish brown, or flesh colored) lesion. Typically, a melanocytic nevus is less than 6 mm in diameter, but may be much smaller or larger.
has broad synonym: Noncancerous mole
has db xref: MSH:D009508
has db xref: SNOMEDCT_US:21119008
has db xref: SNOMEDCT_US:400096001
has db xref: UMLS:C0027962
has db xref: UMLS:C4280269
has exact synonym: Beauty mark
has exact synonym: Melanocytic naevus
has exact synonym: Melanocytic nevi
has exact synonym: Nevocellular nevi
has exact synonym: Pigmented naevi
has exact synonym: Pigmented nevi
has OBO namespace: human_phenotype
id: HP:0000995
type: Class
comment: Melanocytic nevi are commonly known as moles. The majority of moles appear during the first 20 to 30 years of a person's life, however, some may be present when the baby is born. The average human has from 10 to 14 moles. Moles can develop on the scalp, under the nails, armpits, virtually anywhere on the body. The total number of moles a person can have usually varies during his or her lifetime.
subclass of: Abnormality of skin pigmentation
subclass of: Nevus
notation: HP:0000995

Facial capillary hemangioma
tree view: Facial hemangioma
tree view: HP_0005306
IAO_0000115: Hemangioma, a benign tumor of the vascular endothelial cells with small endothelial spaces, occurring in the face.
has db xref: UMLS:C1858545
has OBO namespace: human_phenotype
id: HP:0000996
type: Class
subclass of: Facial hemangioma
subclass of: HP_0005306
notation: HP:0000996

Axillary freckling
tree view: Freckling
IAO_0000115: The presence in the axillary region (armpit) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin.
has db xref: UMLS:C1860335
has OBO namespace: human_phenotype
id: HP:0000997
in subset: hposlim core
type: Class
subclass of: Freckling
notation: HP:0000997

Hypertrichosis
tree view: HP_0011362
IAO_0000115: Hypertrichosis is increased hair growth that is abnormal in quantity or location.
has broad synonym: Excessive hair growth
has broad synonym: Increased hair growth on body
has db xref: MSH:D006983
has db xref: SNOMEDCT_US:271607001
has db xref: SNOMEDCT_US:29966009
has db xref: UMLS:C0020555
has OBO namespace: human_phenotype
id: HP:0000998
type: Class
subclass of: HP_0011362
notation: HP:0000998

Pyoderma
tree view: HP_0005406
IAO_0000115: Any manifestation of a skin disease associated with the production of pus.
has db xref: MSH:D011711
has db xref: SNOMEDCT_US:70759006
has db xref: UMLS:C0034212
has exact synonym: Pus-filled lesion
has OBO namespace: human_phenotype
id: HP:0000999
type: Class
comment: Pyoderma is mainly seen with bacterial skin infections but can also be observed in autoimmune conditions.
subclass of: HP_0005406
notation: HP:0000999

Abnormality of skin pigmentation
tree view: HP_0011121
IAO_0000115: An abnormality of the pigmentation of the skin.
has alternative id: HP:0007582
has alternative id: HP:0200045
has db xref: UMLS:C1260926
has exact synonym: Abnormal pigmentation
has exact synonym: Abnormal skin color
has exact synonym: Abnormal skin pigmentation
has exact synonym: Abnormality of pigmentation
has exact synonym: Abnormality of skin pigmentation
has exact synonym: Pigmentary changes
has exact synonym: Pigmentary skin changes
has exact synonym: Pigmentation anomaly
has OBO namespace: human_phenotype
id: HP:0001000
in subset: hposlim core
type: Class
subclass of: HP_0011121
notation: HP:0001000

Abnormality of subcutaneous fat tissue
tree view: HP_0009124
tree view: HP_0011354
has db xref: UMLS:C4025813
has exact synonym: Abnormality of fatty tissue below the skin
has OBO namespace: human_phenotype
id: HP:0001001
type: Class
subclass of: HP_0009124
subclass of: HP_0011354
notation: HP:0001001

obsolete Decreased subcutaneous fat
IAO_0000231: IAO_0000227
IAO_0100001: Reduced subcutaneous adipose tissue
IAO_0100001: HP:0003758
has OBO namespace: human_phenotype
id: HP:0001002
type: Class
deprecated: true
notation: HP:0001002

Multiple lentigines
tree view: Hypermelanotic macule
IAO_0000115: Presence of an unusually high number of lentigines (singular: lentigo), which are flat, tan to brown oval spots.
has db xref: SNOMEDCT_US:72100002
has db xref: UMLS:C0036651
has db xref: UMLS:C1328931
has narrow synonym: Liver spots
has OBO namespace: human_phenotype
id: HP:0001003
in subset: hposlim core
type: Class
comment: Lentigines are commonly (but not always) due to chronic sun exposure (solar lentigines; sometimes called liver spots) and occur most frequently on the face and back of the hands.
subclass of: Hypermelanotic macule
notation: HP:0001003

Lymphedema
tree view: Edema
IAO_0000115: Localized fluid retention and tissue swelling caused by a compromised lymphatic system.
has alternative id: HP:0003605
has db xref: MSH:D008209
has db xref: SNOMEDCT_US:234097001
has db xref: SNOMEDCT_US:30213001
has db xref: UMLS:C0024236
has db xref: UMLS:C0240278
has db xref: UMLS:C1835229
has exact synonym: Lymphatic obstruction
has exact synonym: Lymphoedema
has exact synonym: Onset of lymphedema around puberty
has exact synonym: Swelling caused by excess lymph fluid under skin
has OBO namespace: human_phenotype
id: HP:0001004
type: Class
subclass of: Edema
notation: HP:0001004

Dermatological manifestations of systemic disorders
tree view: HP_0011354
has db xref: UMLS:C4025812
has OBO namespace: human_phenotype
id: HP:0001005
in subset: secondary consequence
type: Class
subclass of: HP_0011354
notation: HP:0001005

Hypotrichosis
tree view: HP_0011362
IAO_0000115: Congenital lack of hair growth.
has alternative id: HP:0002551
has alternative id: HP:0004525
has alternative id: HP:0004874
has broad synonym: Decreased hair growth on body
has db xref: MEDDRA:10021126
has db xref: MSH:D007039
has db xref: SNOMEDCT_US:53602002
has db xref: SNOMEDCT_US:56558005
has db xref: UMLS:C0020678
has exact synonym: Congenital hypotrichosis
has exact synonym: Hypotrichosis, infantile
has exact synonym: Marked hypotrichosis
has exact synonym: Sparse hair since birth
has OBO namespace: human_phenotype
id: HP:0001006
in subset: hposlim core
type: Class
comment: Unlike alopecia, which describes hair loss where formerly there was hair growth, hypotrichosis describes a situation where there wasn't any hair growth in the first place.
subclass of: HP_0011362
notation: HP:0001006

Hirsutism
tree view: HP_0011362
IAO_0000115: Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair).
has db xref: MSH:D006628
has db xref: SNOMEDCT_US:399939002
has db xref: UMLS:C0019572
has exact synonym: Excessive hairiness
has OBO namespace: human_phenotype
id: HP:0001007
type: Class
subclass of: HP_0011362
notation: HP:0001007

Accumulation of melanosomes in melanocytes
tree view: HP_0011125
has db xref: UMLS:C1843389
has OBO namespace: human_phenotype
id: HP:0001008
type: Class
subclass of: HP_0011125
notation: HP:0001008

Telangiectasia
tree view: HP_0011276
IAO_0000115: Telangiectasias refer to small dilated blood vessels located near the surface of the skin or mucous membranes, measuring between 0.5 and 1 millimeter in diameter. Telangiectasia are located especially on the tongue, lips, palate, fingers, face, conjunctiva, trunk, nail beds, and fingertips.
has alternative id: HP:0001079
has db xref: MSH:D013684
has db xref: SNOMEDCT_US:112641009
has db xref: SNOMEDCT_US:247479008
has db xref: UMLS:C0039446
has db xref: UMLS:C1138421
has exact synonym: Cutaneous telangiectasia
has exact synonym: Telangiectases
has OBO namespace: human_phenotype
has related synonym: Spider veins
id: HP:0001009
type: Class
subclass of: HP_0011276
notation: HP:0001009

Hypopigmentation of the skin
tree view: Abnormality of skin pigmentation
IAO_0000115: A reduction of skin color related to a decrease in melanin production and deposition.
has alternative id: HP:0005589
has alternative id: HP:0007604
has alternative id: HP:0007622
has db xref: MSH:D017496
has db xref: SNOMEDCT_US:18655006
has db xref: SNOMEDCT_US:201284005
has db xref: SNOMEDCT_US:23006000
has db xref: SNOMEDCT_US:89031001
has db xref: UMLS:C0162835
has exact synonym: Hypopigmentation
has exact synonym: Hypopigmented skin
has exact synonym: Patchy lightened skin
has OBO namespace: human_phenotype
has related synonym: Skin hypopigmentation
id: HP:0001010
type: Class
subclass of: Abnormality of skin pigmentation
notation: HP:0001010

obsolete Diaphoresis (with pheochromocytoma)
IAO_0000231: IAO_0000227
IAO_0100001: Hyperhidrosis
IAO_0100001: HP:0000975
has OBO namespace: human_phenotype
id: HP:0001011
type: Class
deprecated: true
notation: HP:0001011

Multiple lipomas
tree view: HP_0012031
IAO_0000115: The presence of multiple lipomas (a type of benign tissue made of fatty tissue).
has db xref: MSH:D008067
has db xref: NCIT:C3192
has db xref: SNOMEDCT_US:404062002
has db xref: SNOMEDCT_US:46720004
has db xref: SNOMEDCT_US:93163002
has db xref: UMLS:C0023798
has db xref: UMLS:C0745730
has exact synonym: Multiple fatty lumps
has OBO namespace: human_phenotype
has related synonym: Lipomas
has related synonym: Lipomatosis
id: HP:0001012
type: Class
comment: A lipoma is a benign tumor composed of fatty tissue. They are the most common form of soft tissue tumor and are usually soft to the touch, movable, and generally painless (but there is a separate entity of painful multiple lipomas which is a hereditary disease called Dercum disease or adiposis dolorosa). Many lipomas are small (under one centimeter diameter) but can enlarge to sizes greater than six centimeters. Lipomas are commonly found in adults from 40 to 60 years of age, but can also be found in children.
subclass of: HP_0012031
notation: HP:0001012

Eruptive xanthomas
tree view: Xanthomatosis
IAO_0000115: Eruptive xanthomas are yellow-orange-to-red-brown papules that are often surrounded by an erythematous halo. They appear in crops on the buttocks, extensor surfaces of the extremities, and flexural creases. Acutely, variable amounts of pruritus and pain occur.
has db xref: SNOMEDCT_US:238952003
has db xref: UMLS:C0221252
has OBO namespace: human_phenotype
id: HP:0001013
type: Class
comment: Eruptive xanthomas occur in the setting of chylomicronemia and hypertriglyceridemia.
subclass of: Xanthomatosis
notation: HP:0001013

Angiokeratoma
tree view: HP_0011276
IAO_0000115: A vascular lesion defined histologically as one or more dilated blood vessels lying directly subepidermal and showing an epidermal proliferative reaction. Clinically, angiokeratoma presents as a small, raised, dark-red spot.
has db xref: MSH:D000794
has db xref: SNOMEDCT_US:26810009
has db xref: UMLS:C0002985
has exact synonym: Angiokeratomas
has OBO namespace: human_phenotype
id: HP:0001014
type: Class
subclass of: HP_0011276
notation: HP:0001014

Prominent superficial veins
tree view: Abnormal venous morphology
tree view: HP_0007394
IAO_0000115: A condition in which superficial veins (i.e., veins just under the skin) are more conspicuous or noticable than normal.
has db xref: UMLS:C1837785
has exact synonym: Prominent veins
has OBO namespace: human_phenotype
id: HP:0001015
type: Class
comment: See Figure 4 of PMID:24456199
subclass of: Abnormal venous morphology
subclass of: HP_0007394
notation: HP:0001015

HP_0001016
IAO_0000231: IAO_0000227
IAO_0100001: HP_0007517
type: Class
deprecated: true
notation: HP:0001016

Anemic pallor
tree view: Pallor
IAO_0000115: A type of pallor that is secondary to the presence of anemia.
has db xref: UMLS:C4025811
has OBO namespace: human_phenotype
id: HP:0001017
type: Class
subclass of: Pallor
notation: HP:0001017

Abnormal palmar dermatoglyphics
tree view: HP_0007477
tree view: HP_0040211
IAO_0000115: An abnormality of the dermatoglyphs, i.e., an abnormality of the patterns of ridges of the skin of palm of hand.
has db xref: UMLS:C4025810
has OBO namespace: human_phenotype
id: HP:0001018
type: Class
subclass of: HP_0007477
subclass of: HP_0040211
notation: HP:0001018

Erythroderma
tree view: HP_0011123
IAO_0000115: An inflammatory exfoliative dermatosis involving nearly all of the surface of the skin. Erythroderma develops suddenly. A patchy erythema may generalize and spread to affect most of the skin. Scaling may appear in 2-6 days and be accompanied by hot, red, dry skin, malaise, and fever.
has broad synonym: Red scaly skin caused by inflammatory skin disease
has db xref: MSH:D003873
has db xref: SNOMEDCT_US:200948000
has db xref: SNOMEDCT_US:396349005
has db xref: SNOMEDCT_US:396350005
has db xref: SNOMEDCT_US:399992009
has db xref: SNOMEDCT_US:400005007
has db xref: UMLS:C0011606
has exact synonym: Exfoliative dermititis
has exact synonym: Generalized erythroderma
has exact synonym: Generalized erythrodermia
has OBO namespace: human_phenotype
id: HP:0001019
type: Class
subclass of: HP_0011123
notation: HP:0001019

HP_0001020
IAO_0000231: IAO_0000227
IAO_0100001: Thin skin
type: Class
deprecated: true
notation: HP:0001020

HP_0001021
IAO_0000231: IAO_0000227
IAO_0100001: HP_0007479
type: Class
deprecated: true
notation: HP:0001021

Albinism
tree view: HP_0005599
tree view: HP_0007513
IAO_0000115: An abnormal reduction in the amount of pigmentation (reduced or absent) of skin, hair and eye (iris and retina).
has db xref: MSH:D000417
has db xref: SNOMEDCT_US:15890002
has db xref: SNOMEDCT_US:18064000
has db xref: UMLS:C0001916
has db xref: UMLS:C0333913
has exact synonym: Achromasia
has exact synonym: Albinism
has OBO namespace: human_phenotype
id: HP:0001022
type: Class
subclass of: HP_0005599
subclass of: HP_0007513
notation: HP:0001022

HP_0001023
IAO_0000231: IAO_0000227
IAO_0100001: Striae distensae
type: Class
deprecated: true
notation: HP:0001023

Skin dimple over apex of long bone angulation
tree view: HP_0010781
has db xref: UMLS:C1855815
has OBO namespace: human_phenotype
id: HP:0001024
type: Class
subclass of: HP_0010781
notation: HP:0001024

Urticaria
tree view: HP_0011276
IAO_0000115: Raised, well-circumscribed areas of erythema and edema involving the dermis and epidermis. Urticaria is intensely pruritic, and blanches completely with pressure.
has db xref: MEDDRA:10046735
has db xref: MSH:D014581
has db xref: SNOMEDCT_US:126485001
has db xref: SNOMEDCT_US:247472004
has db xref: SNOMEDCT_US:64305001
has db xref: UMLS:C0042109
has exact synonym: Hives
has OBO namespace: human_phenotype
id: HP:0001025
in subset: hposlim core
type: Class
subclass of: HP_0011276
notation: HP:0001025

Penetrating foot ulcers
tree view: HP_0200042
has db xref: UMLS:C4025809
has exact synonym: Penetrating foot ulcers
has OBO namespace: human_phenotype
id: HP:0001026
type: Class
subclass of: HP_0200042
notation: HP:0001026

Soft, doughy skin
tree view: Soft skin
IAO_0000115: A skin texture that is unusually soft (and may feel silky), and has a malleable consistency resembling that of dough.
has db xref: UMLS:C1849043
has exact synonym: Soft, doughy skin
has OBO namespace: human_phenotype
id: HP:0001027
type: Class
subclass of: Soft skin
notation: HP:0001027

Hemangioma
tree view: HP_0100742
IAO_0000115: A hemangioma is a benign tumor characterized by blood-filled spaces lined by benign endothelial cells. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma (in contrast to a hemangioma with small endothelial spaces, which is called capillary hemangioma).
has alternative id: HP:0007444
has db xref: MSH:D006391
has db xref: NCIT:C3085
has db xref: SNOMEDCT_US:2099007
has db xref: SNOMEDCT_US:253053003
has db xref: SNOMEDCT_US:400210000
has db xref: UMLS:C0018916
has exact synonym: Strawberry mark
has OBO namespace: human_phenotype
has related synonym: Hemangiomata
id: HP:0001028
type: Class
subclass of: HP_0100742
notation: HP:0001028

Poikiloderma
tree view: HP_0011121
IAO_0000115: Poikiloderma refers to a patch of skin with (1) reticulated hypopigmentation and hyperpigmentation, (2) wrinkling secondary to epidermal atrophy, and (3) telangiectasias.
has db xref: MEDDRA:10057041
has db xref: SNOMEDCT_US:402685001
has db xref: SNOMEDCT_US:70114006
has db xref: UMLS:C0392777
has OBO namespace: human_phenotype
id: HP:0001029
in subset: hposlim core
type: Class
comment: Poikiloderma does not refer to a specific disease entity, but can be seen owing to a number of different causes.
subclass of: HP_0011121
notation: HP:0001029

Fragile skin
tree view: HP_0011354
IAO_0000115: Skin that splits easily with minimal injury.
has db xref: MEDDRA:10040851
has db xref: SNOMEDCT_US:247427007
has db xref: UMLS:C0241181
has exact synonym: Fragile skin
has exact synonym: Skin fragility
has OBO namespace: human_phenotype
id: HP:0001030
in subset: hposlim core
type: Class
subclass of: HP_0011354
notation: HP:0001030

Subcutaneous lipoma
tree view: Abnormality of subcutaneous fat tissue
tree view: Multiple lipomas
tree view: HP_0008069
IAO_0000115: The presence of subcutaneous lipoma.
has db xref: NCIT:C3192
has db xref: UMLS:C1403035
has OBO namespace: human_phenotype
id: HP:0001031
type: Class
subclass of: Abnormality of subcutaneous fat tissue
subclass of: Multiple lipomas
subclass of: HP_0008069
notation: HP:0001031

Absent distal interphalangeal creases
tree view: HP_0006109
IAO_0000115: Absence of the distal interphalangeal flexion creases of the fingers.
has db xref: UMLS:C1861349
has exact synonym: Absence of skin creases over distal interphalangeal joints
has exact synonym: Aplasia of the distal interphalangeal creases
has exact synonym: Distal finger flexion creases absent
has OBO namespace: human_phenotype
id: HP:0001032
type: Class
subclass of: HP_0006109
notation: HP:0001032

Facial flushing after alcohol intake
tree view: HP_0031284
has db xref: UMLS:C4025808
has exact synonym: Facial flushing after alcohol intake
has OBO namespace: human_phenotype
id: HP:0001033
in subset: secondary consequence
type: Class
subclass of: HP_0031284
notation: HP:0001033

Hypermelanotic macule
tree view: HP_0007400
tree view: HP_0012733
IAO_0000115: A hyperpigmented circumscribed area of change in normal skin color without elevation or depression of any size.
has alternative id: HP:0007442
has alternative id: HP:0007491
has alternative id: HP:0007492
has alternative id: HP:0100815
has alternative id: HP:0200031
has alternative id: HP:0200033
has db xref: UMLS:C1842774
has exact synonym: Hyperpigmented macules
has exact synonym: Hyperpigmented spots
has OBO namespace: human_phenotype
has related synonym: Hyperpigmented skin patches
id: HP:0001034
type: Class
subclass of: HP_0007400
subclass of: HP_0012733
notation: HP:0001034

HP_0001035
IAO_0000231: IAO_0000227
IAO_0100001: HP_0011368
type: Class
deprecated: true
notation: HP:0001035

Parakeratosis
tree view: HP_0011368
IAO_0000115: Abnormal formation of the keratinocytes of the epidermis characterized by persistence of nuclei, incomplete formation of keratin, and moistness and swelling of the keratinocytes.
has db xref: MSH:D010241
has db xref: SNOMEDCT_US:200766001
has db xref: SNOMEDCT_US:65068000
has db xref: UMLS:C0030436
has OBO namespace: human_phenotype
id: HP:0001036
type: Class
comment: Persistence of the nuclei of keratinocytes as they rise into the stratum corneum of the epidermis. Parakeratosis is observed as scaling in many conditions such as psoriasis.
subclass of: HP_0011368
notation: HP:0001036

HP_0001037
IAO_0000231: IAO_0000227
IAO_0100001: Cutis marmorata
type: Class
deprecated: true
notation: HP:0001037

Warfarin-induced skin necrosis
tree view: Dermatological manifestations of systemic disorders
has db xref: UMLS:C1867638
has OBO namespace: human_phenotype
id: HP:0001038
in subset: secondary consequence
type: Class
subclass of: Dermatological manifestations of systemic disorders
notation: HP:0001038

Atheroeruptive xanthoma
tree view: Xanthomatosis
has db xref: UMLS:C4025807
has OBO namespace: human_phenotype
id: HP:0001039
type: Class
subclass of: Xanthomatosis
notation: HP:0001039

Multiple pterygia
tree view: Pterygium
has db xref: UMLS:C1867448
has OBO namespace: human_phenotype
id: HP:0001040
type: Class
subclass of: Pterygium
notation: HP:0001040

Facial erythema
tree view: HP_0010783
IAO_0000115: Redness of the skin of the face, caused by hyperemia of the capillaries in the lower layers of the skin.
has alternative id: HP:0001068
has db xref: MSH:D001821
has db xref: MSH:D012393
has db xref: SNOMEDCT_US:20255002
has db xref: SNOMEDCT_US:271811009
has db xref: SNOMEDCT_US:398909004
has db xref: UMLS:C0005874
has db xref: UMLS:C0035854
has db xref: UMLS:C0239488
has db xref: UMLS:C4020880
has exact synonym: Blushed cheeks
has exact synonym: Blushing
has exact synonym: Red face
has exact synonym: Red in the face
has narrow synonym: Rosacea
has OBO namespace: human_phenotype
has related synonym: Ruddy face
id: HP:0001041
type: Class
subclass of: HP_0010783
notation: HP:0001041

High axial triradius
tree view: Abnormal palmar dermatoglyphics
has db xref: UMLS:C4025806
has OBO namespace: human_phenotype
id: HP:0001042
type: Class
subclass of: Abnormal palmar dermatoglyphics
notation: HP:0001042

Prominent scalp veins
tree view: Prominent superficial veins
tree view: Abnormality of the scalp
tree view: HP_3000036
has db xref: UMLS:C1856542
has exact synonym: Prominent scalp veins
has OBO namespace: human_phenotype
id: HP:0001043
type: Class
subclass of: Prominent superficial veins
subclass of: Abnormality of the scalp
subclass of: HP_3000036
notation: HP:0001043

HP_0001044
IAO_0000231: IAO_0000227
IAO_0100001: HP_0007443
type: Class
deprecated: true
notation: HP:0001044

Vitiligo
tree view: Abnormality of skin pigmentation
has db xref: MSH:D014820
has db xref: SNOMEDCT_US:56727007
has db xref: UMLS:C0042900
has exact synonym: Blotchy loss of skin color
has OBO namespace: human_phenotype
id: HP:0001045
type: Class
subclass of: Abnormality of skin pigmentation
notation: HP:0001045

Intermittent jaundice
tree view: Jaundice
IAO_0000115: Jaundice that is sometimes present, sometimes not.
has db xref: UMLS:C4025805
has exact synonym: Intermittent icterus
has exact synonym: Intermittent yellow skin
has exact synonym: Intermittent yellowing of skin
has OBO namespace: human_phenotype
id: HP:0001046
in subset: secondary consequence
type: Class
subclass of: Jaundice
notation: HP:0001046

Atopic dermatitis
tree view: Eczema
IAO_0000115: Atopic dermatitis (AD) or atopic eczema is an itchy, inflammatory skin condition with a predilection for the skin flexures. It is characterized by poorly defined erythema with edema, vesicles, and weeping in the acute stage and skin thickening (lichenification) in the chronic stage.
has alternative id: HP:0007533
has alternative id: HP:0007564
has db xref: MSH:D003876
has db xref: SNOMEDCT_US:200775004
has db xref: SNOMEDCT_US:24079001
has db xref: UMLS:C0011615
has db xref: UMLS:C4280605
has exact synonym: Atopic dermatitis, chronic
has exact synonym: Dermatitis, Atopic
has OBO namespace: human_phenotype
has related synonym: Baby eczema
id: HP:0001047
type: Class
comment: In infants, atopic dermatitis is known as infantile eczema.
subclass of: Eczema
notation: HP:0001047

Cavernous hemangioma
tree view: Hemangioma
IAO_0000115: The presence of a cavernous hemangioma. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma.
has db xref: MEDDRA:10055899
has db xref: MSH:D006392
has db xref: NCIT:C3086
has db xref: SNOMEDCT_US:33377007
has db xref: SNOMEDCT_US:416824008
has db xref: SNOMEDCT_US:56975005
has db xref: UMLS:C0018920
has exact synonym: Cavernous angioma
has exact synonym: Cavernous haemangioma
has exact synonym: Collection of dilated blood vessels that forms mass
has OBO namespace: human_phenotype
id: HP:0001048
in subset: hposlim core
type: Class
subclass of: Hemangioma
notation: HP:0001048

Absent dorsal skin creases over affected joints
tree view: HP_0006143
has db xref: UMLS:C1861400
has OBO namespace: human_phenotype
id: HP:0001049
type: Class
subclass of: HP_0006143
notation: HP:0001049

Plethora
tree view: Dermatological manifestations of systemic disorders
has db xref: SNOMEDCT_US:75246004
has db xref: UMLS:C0232370
has OBO namespace: human_phenotype
id: HP:0001050
type: Class
comment: Related to polycythemia.
subclass of: Dermatological manifestations of systemic disorders
notation: HP:0001050

Seborrheic dermatitis
tree view: Eczema
IAO_0000115: Seborrheic dermatitis is a form of eczema which is closely related to dandruff. It causes dry or greasy peeling of the scalp, eyebrows, and face, and sometimes trunk.
has alternative id: HP:0007562
has db xref: MSH:D012628
has db xref: SNOMEDCT_US:50563003
has db xref: SNOMEDCT_US:86708008
has db xref: UMLS:C0036508
has db xref: UMLS:C3806554
has exact synonym: Seborrhea
has exact synonym: Seborrheic eczema
has OBO namespace: human_phenotype
has related synonym: Dysseborrheic dermatitis
id: HP:0001051
type: Class
comment: Dandruff.
subclass of: Eczema
notation: HP:0001051

Nevus flammeus
tree view: Nevus
tree view: HP_0025104
IAO_0000115: A congenital vascular malformation consisting of superficial and deep dilated capillaries in the skin which produce a reddish to purplish discolouration of the skin.
has db xref: MEDDRA:10067193
has db xref: MSH:D019339
has db xref: SNOMEDCT_US:254211001
has db xref: SNOMEDCT_US:416377005
has db xref: UMLS:C0235752
has exact synonym: Nevus simplex
has exact synonym: port-wine stain
has OBO namespace: human_phenotype
id: HP:0001052
in subset: hposlim core
type: Class
comment: Port-wine stains generally become deeper, thicker, and darker in color over time, mainly as a result of progressive vascular dilatation. As a result of these changes, which are generally much more evident on the face, patients often develop hypertrophy and nodularity after the third or fourth decade of life. The fact that nodules are only found on the face and do not occur in childhood has led some authors to suggest that port-wine stains might actually be hamartomatous lesions.
subclass of: Nevus
subclass of: HP_0025104
notation: HP:0001052

Hypopigmented skin patches
tree view: Hypopigmentation of the skin
tree view: HP_0011355
has db xref: UMLS:C1836735
has exact synonym: Patchy loss of skin color
has OBO namespace: human_phenotype
id: HP:0001053
type: Class
subclass of: Hypopigmentation of the skin
subclass of: HP_0011355
notation: HP:0001053

Numerous nevi
tree view: Nevus
tree view: HP_0010566
has db xref: UMLS:C1849677
has exact synonym: Multiple pigmented nevi
has exact synonym: Numerous moles
has OBO namespace: human_phenotype
id: HP:0001054
type: Class
subclass of: Nevus
subclass of: HP_0010566
notation: HP:0001054

Erysipelas
tree view: HP_0011123
IAO_0000115: Increased susceptibility to erysipelas, as manifested by a medical history of repeated episodes of erysipelas, which is a superficial infection of the skin, typically involving the lymphatic system.
has db xref: MEDDRA:10015145
has db xref: MSH:D004881
has db xref: MSH:D004886
has db xref: SNOMEDCT_US:44653001
has db xref: SNOMEDCT_US:51510002
has db xref: UMLS:C0014714
has db xref: UMLS:C0014733
has OBO namespace: human_phenotype
has related synonym: St. Anthony's Fire
id: HP:0001055
in subset: hposlim core
type: Class
subclass of: HP_0011123
notation: HP:0001055

Milia
tree view: HP_0011355
IAO_0000115: Presence of multiple small cysts containing keratin (skin protein) and presenting as tiny pearly-white bumps just under the surface of the skin.
has db xref: SNOMEDCT_US:254679001
has db xref: SNOMEDCT_US:254683001
has db xref: SNOMEDCT_US:37719003
has db xref: UMLS:C0345996
has exact synonym: Milk spot
has exact synonym: Millium cyst
has OBO namespace: human_phenotype
id: HP:0001056
in subset: hposlim core
type: Class
comment: Milia are a normal finding in newborn babies (40-50%), often occurring around the nose.
subclass of: HP_0011355
notation: HP:0001056

Aplasia cutis congenita
tree view: HP_0008065
IAO_0000115: A developmental defect resulting in the congenital absence of skin in multiple or solitary non-inflammatory, well-demarcated, oval or circular ulcers with a diameter of about 1 to 2 cm. Aplasia cutis congenita most commonly occurs on the scalp, but may present in the face, trunk, or limbs.
has broad synonym: Congenital scars
has db xref: MEDDRA:10002963
has db xref: MSH:D004476
has db xref: SNOMEDCT_US:254237003
has db xref: SNOMEDCT_US:35484002
has db xref: SNOMEDCT_US:74223008
has db xref: UMLS:C0265989
has db xref: UMLS:C0282160
has exact synonym: Absence of part of skin at birth
has exact synonym: Congenital absence of skin
has exact synonym: Cutis aplasia
has OBO namespace: human_phenotype
id: HP:0001057
in subset: hposlim core
type: Class
subclass of: HP_0008065
notation: HP:0001057

Poor wound healing
tree view: HP_0011354
IAO_0000115: A reduced ability to heal cutaneous wounds.
has db xref: UMLS:C1851789
has exact synonym: Poor wound healing
has OBO namespace: human_phenotype
id: HP:0001058
in subset: hposlim core
type: Class
subclass of: HP_0011354
notation: HP:0001058

Pterygium
tree view: Abnormal joint morphology
tree view: HP_0011356
IAO_0000115: Pterygia are 'winglike' triangular membranes occurring in the neck, eyes, knees, elbows, ankles or digits.
has db xref: MSH:D011625
has db xref: SNOMEDCT_US:77489003
has db xref: UMLS:C0033999
has narrow synonym: Surfer's eye
has OBO namespace: human_phenotype
has related synonym: Pterygia
id: HP:0001059
type: Class
subclass of: Abnormal joint morphology
subclass of: HP_0011356
notation: HP:0001059

Axillary pterygium
tree view: Pterygium
IAO_0000115: Presence of a cutaneous membrane (flap) in the armpit.
has db xref: UMLS:C1844738
has exact synonym: Axillary pterygia
has OBO namespace: human_phenotype
id: HP:0001060
type: Class
subclass of: Pterygium
notation: HP:0001060

Acne
tree view: HP_0011123
IAO_0000115: A skin condition in which there is an increase in sebum secretion by the pilosebaceous apparatus associated with open comedones (blackheads), closed comedones (whiteheads), and pustular nodules (papules, pustules, and cysts).
has alternative id: HP:0005596
has broad synonym: Breaking out
has db xref: MEDDRA:10000496
has db xref: SNOMEDCT_US:11381005
has db xref: UMLS:C0702166
has exact synonym: Acne
has OBO namespace: human_phenotype
id: HP:0001061
in subset: hposlim core
type: Class
comment: Acne can be a consequence of increased sebum production as a result of increased testosterone production (in males and females) during puberty. Blockage of hair follicles canresult from accumulating keratin and sebum, resulting in plug formation called microcomedone, which can enlarge just beneath the surface of the skin in the pore itself. It may become visible as a closed comedone (whitehead), a firm white papule. Further enlargement leads to an open comedone (blackhead). The comedones are not themselves inflammatory. Proprionibacterium acnes can induce inflammation, leding to an inflammed, red papule.
subclass of: HP_0011123
notation: HP:0001061

Atypical nevus
tree view: Nevus
IAO_0000115: A large pigmented lesion measuring 5-15 mm in diameter with irregular, notched, and ill defined border and with color that may range from tan to dark brown to pink.
has db xref: MSH:D004416
has db xref: SNOMEDCT_US:254818000
has db xref: SNOMEDCT_US:61814002
has db xref: UMLS:C0205748
has exact synonym: Atypical mole
has OBO namespace: human_phenotype
has related synonym: Dysplastic Nevus
id: HP:0001062
type: Class
comment: Macular and papular areas may be present within a single lesion (also described as a fried egg appearance). The terms atypical moles and dysplastic nevi are used interchangeably, regardless of clinical or histologic appearance.
subclass of: Nevus
notation: HP:0001062

Acrocyanosis
tree view: Cyanosis
has db xref: SNOMEDCT_US:25003006
has db xref: UMLS:C0221347
has exact synonym: Persistent blue color of hands, feet, or parts of face
has OBO namespace: human_phenotype
id: HP:0001063
type: Class
subclass of: Cyanosis
notation: HP:0001063

HP_0001064
IAO_0000231: IAO_0000227
IAO_0100001: Hyperhidrosis
type: Class
deprecated: true
notation: HP:0001064

Striae distensae
tree view: Dermal atrophy
tree view: HP_0100679
IAO_0000115: Thinned, erythematous, depressed bands of atrophic skin. Initially, striae appear as flattened and thinned, pinkish linear regions of the skin. Striae tend to enlarge in length and become reddish or purplish. Later, striae tend to appear as white, depressed bands that are parallel to the lines of skin tension. Striae distensae occur most often in areas that have been subject to distension such as the lower back, buttocks, thighs, breast, abdomen, and shoulders.
has alternative id: HP:0001023
has alternative id: HP:0001066
has alternative id: HP:0100680
has db xref: MEDDRA:10040925
has db xref: MSH:D057896
has db xref: SNOMEDCT_US:201066002
has db xref: SNOMEDCT_US:201067006
has db xref: SNOMEDCT_US:47212006
has db xref: UMLS:C0152459
has exact synonym: Purplish striae
has exact synonym: Stretch marks
has exact synonym: Striae
has exact synonym: Striae atrophicae
has exact synonym: Striae cutis distensae
has OBO namespace: human_phenotype
id: HP:0001065
in subset: hposlim core
type: Class
subclass of: Dermal atrophy
subclass of: HP_0100679
notation: HP:0001065

HP_0001066
IAO_0000231: IAO_0000227
IAO_0100001: Striae distensae
type: Class
deprecated: true
notation: HP:0001066

Neurofibromas
tree view: HP_0008069
tree view: HP_0010614
tree view: HP_0100007
IAO_0000115: The presence of multiple cutaneous neurofibromas.
has alternative id: HP:0006746
has alternative id: HP:0007386
has alternative id: HP:0007612
has db xref: MSH:D017253
has db xref: NCIT:C3272
has db xref: SNOMEDCT_US:19133005
has db xref: SNOMEDCT_US:81669005
has db xref: UMLS:C0162678
has exact synonym: Neurofibromata
has exact synonym: Neurofibromatosis
has OBO namespace: human_phenotype
has related synonym: multiple neurofibromas
id: HP:0001067
type: Class
subclass of: HP_0008069
subclass of: HP_0010614
subclass of: HP_0100007
notation: HP:0001067

HP_0001068
IAO_0000231: IAO_0000227
IAO_0100001: Facial erythema
type: Class
deprecated: true
notation: HP:0001068

Episodic hyperhidrosis
tree view: Hyperhidrosis
IAO_0000115: Intermittent episodes of abnormally increased perspiration.
has db xref: UMLS:C1857171
has exact synonym: Hyperhidrosis, episodic
has exact synonym: Sporadic excessive sweating
has OBO namespace: human_phenotype
id: HP:0001069
type: Class
subclass of: Hyperhidrosis
notation: HP:0001069

Mottled pigmentation
tree view: Abnormality of skin pigmentation
IAO_0000115: Patchy and irregular skin pigmentation.
has alternative id: HP:0007584
has db xref: UMLS:C0860439
has db xref: UMLS:C4020879
has exact synonym: Mottled skin coloring
has OBO namespace: human_phenotype
has related synonym: Stippled pigmentation
id: HP:0001070
type: Class
subclass of: Abnormality of skin pigmentation
notation: HP:0001070

Angiokeratoma corporis diffusum
tree view: Angiokeratoma
has db xref: MSH:D000795
has db xref: SNOMEDCT_US:124464003
has db xref: SNOMEDCT_US:16652001
has db xref: UMLS:C0002986
has exact synonym: Fabry syndrome
has OBO namespace: human_phenotype
id: HP:0001071
type: Class
subclass of: Angiokeratoma
notation: HP:0001071

Thickened skin
tree view: HP_0011121
IAO_0000115: Laminar thickening of skin.
has alternative id: HP:0007393
has db xref: MEDDRA:10040936
has db xref: SNOMEDCT_US:17417006
has db xref: SNOMEDCT_US:69943009
has db xref: UMLS:C0334008
has db xref: UMLS:C4020878
has exact synonym: Pachydermia
has exact synonym: Thick skin
has exact synonym: Thickened skin
has OBO namespace: human_phenotype
has related synonym: Diffusely thickened skin
id: HP:0001072
in subset: hposlim core
type: Class
subclass of: HP_0011121
notation: HP:0001072

Cigarette-paper scars
tree view: Atrophic scars
IAO_0000115: Thin (atrophic) and wide scars.
has db xref: UMLS:C1851828
has exact synonym: 'cigarette paper scarring'
has exact synonym: Cigarette paper scarring
has exact synonym: Cigarette-paper scars
has OBO namespace: human_phenotype
id: HP:0001073
in subset: hposlim core
type: Class
comment: Cigarette-paper scars are atrophic scars in the skin at sites of minor lacerations over the knees, shins, and elbows.
subclass of: Atrophic scars
notation: HP:0001073

Atypical nevi in non-sun exposed areas
tree view: Nevus
has db xref: UMLS:C4021837
has OBO namespace: human_phenotype
id: HP:0001074
type: Class
subclass of: Nevus
notation: HP:0001074

Atrophic scars
tree view: Atypical scarring of skin
tree view: Dermal atrophy
IAO_0000115: Scars that form a depression compared to the level of the surrounding skin because of damage to the collagen, fat or other tissues below the skin.
has alternative id: HP:0007567
has db xref: SNOMEDCT_US:239172000
has db xref: SNOMEDCT_US:409766009
has db xref: UMLS:C0162154
has exact synonym: Sunken or indented skin due to damage
has exact synonym: Thin, atrophic scars
has OBO namespace: human_phenotype
id: HP:0001075
in subset: hposlim core
type: Class
subclass of: Atypical scarring of skin
subclass of: Dermal atrophy
notation: HP:0001075

Glabellar hemangioma
tree view: Hemangioma
has db xref: UMLS:C1854408
has exact synonym: Glabellar capillary hemangioma
has OBO namespace: human_phenotype
id: HP:0001076
type: Class
subclass of: Hemangioma
notation: HP:0001076

HP_0001077
IAO_0000231: IAO_0000227
IAO_0100001: Dermal atrophy
type: Class
deprecated: true
notation: HP:0001077

HP_0001078
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009775
type: Class
deprecated: true
notation: HP:0001078

HP_0001079
IAO_0000231: IAO_0000227
IAO_0100001: Telangiectasia
type: Class
deprecated: true
notation: HP:0001079

Biliary tract abnormality
tree view: Abnormality of the biliary system
IAO_0000115: An abnormality of the biliary tree.
has db xref: MSH:D001660
has db xref: SNOMEDCT_US:105997008
has db xref: UMLS:C0005424
has db xref: UMLS:C0549613
has OBO namespace: human_phenotype
has related synonym: Biliary tract disease
id: HP:0001080
type: Class
subclass of: Abnormality of the biliary system
notation: HP:0001080

Cholelithiasis
tree view: HP_0012437
IAO_0000115: Hard, pebble-like deposits that form within the gallbladder.
has db xref: MSH:D002769
has db xref: SNOMEDCT_US:266474003
has db xref: UMLS:C0008350
has exact synonym: Gallstones
has OBO namespace: human_phenotype
id: HP:0001081
type: Class
comment: Gallstones range in size from as small as a grain of sand to as large as a golf ball. Cholesterol gallstones are the most common type of gallstone. Gallstones resulting from too much bilirubin in the bile are referred to as pigment stones.
subclass of: HP_0012437
notation: HP:0001081

Cholecystitis
tree view: HP_0012438
IAO_0000115: The presence of inflammatory changes in the gallbladder.
has db xref: MSH:D002764
has db xref: SNOMEDCT_US:76581006
has db xref: UMLS:C0008325
has exact synonym: Gallbladder inflammation
has OBO namespace: human_phenotype
id: HP:0001082
type: Class
subclass of: HP_0012438
notation: HP:0001082

Ectopia lentis
tree view: Abnormality of the lens
IAO_0000115: Dislocation or malposition of the crystalline lens of the eye. A partial displacement (or dislocation) of the lens is described as a subluxation of the lens, while a complete displacement is termed luxation of the lens. A complete displacement occurs if the lens is completely outside the patellar fossa of the lens, either in the anterior chamber, in the vitreous, or directly on the retina. If the lens is partially displaced but still contained within the lens space, then it is termed subluxation.
has alternative id: HP:0000665
has alternative id: HP:0007637
has alternative id: HP:0007882
has alternative id: HP:0008016
has db xref: MSH:D004479
has db xref: MSH:D007906
has db xref: SNOMEDCT_US:74969002
has db xref: UMLS:C0013581
has db xref: UMLS:C0023309
has exact synonym: Abnormality of lens position
has exact synonym: Lens dislocation
has OBO namespace: human_phenotype
id: HP:0001083
in subset: hposlim core
type: Class
subclass of: Abnormality of the lens
notation: HP:0001083

Corneal arcus
tree view: HP_0008011
IAO_0000115: A hazy, grayish-white ring about 2 mm in width located close to but separated from the limbus (the corneoscleral junction). Corneal arcus generally occurs bilaterally, and is related to lipid deposition in the cornea. Corneal arcus can occur in elderly persons as a part of the aging process but may be associated with hypercholesterolemia in people under the age of 50 years.
has alternative id: HP:0100741
has db xref: MSH:D001112
has db xref: SNOMEDCT_US:111522004
has db xref: SNOMEDCT_US:231924000
has db xref: SNOMEDCT_US:231925004
has db xref: UMLS:C0003742
has db xref: UMLS:C0339268
has exact synonym: Anterior embryotoxon
has exact synonym: Arcus lipoidis
has exact synonym: Arcus senilis
has exact synonym: Corneal annulus
has exact synonym: Gerontoxon
has OBO namespace: human_phenotype
has related synonym: Arcus juvenilis
id: HP:0001084
type: Class
comment: A grey opaque line which surrounds the margin of the cornea caused by lipid deposits.
subclass of: HP_0008011
notation: HP:0001084

Papilledema
tree view: HP_0012795
IAO_0000115: Papilledema refers to edema (swelling) of the optic disc secondary to any factor which increases cerebral spinal fluid pressure.
has alternative id: HP:0001130
has db xref: MSH:D010211
has db xref: SNOMEDCT_US:248487006
has db xref: SNOMEDCT_US:423341008
has db xref: SNOMEDCT_US:73221001
has db xref: UMLS:C0030353
has OBO namespace: human_phenotype
id: HP:0001085
in subset: hposlim core
type: Class
comment: The borders of the optic disc are normally clear and well defined upon fundoscopic examination. Papilledema is optic disc swelling that can lead to the blurring of optic margins and elevation of optic disc.
subclass of: HP_0012795
notation: HP:0001085

HP_0001086
IAO_0000231: IAO_0000227
IAO_0100001: Leber optic atrophy
type: Class
deprecated: true
notation: HP:0001086

Developmental glaucoma
tree view: Glaucoma
tree view: HP_0007700
IAO_0000115: Glaucoma which forms during the early years of a child's life is called developmental or congenital glaucoma.
has db xref: MSH:D006871
has db xref: SNOMEDCT_US:204113001
has db xref: SNOMEDCT_US:413728006
has db xref: UMLS:C0020302
has exact synonym: Childhood glaucoma
has exact synonym: Infantile glaucoma
has exact synonym: Pediatric glaucoma
has OBO namespace: human_phenotype
id: HP:0001087
type: Class
subclass of: Glaucoma
subclass of: HP_0007700
notation: HP:0001087

Brushfield spots
tree view: HP_0008034
IAO_0000115: The presence of whitish spots in a ring-like arrangement at the periphery of the iris.
has db xref: SNOMEDCT_US:400960002
has db xref: UMLS:C1303007
has db xref: UMLS:C4280604
has exact synonym: Iris brushfield spots
has OBO namespace: human_phenotype
has related synonym: Speckled iris
id: HP:0001088
in subset: hposlim core
type: Class
comment: Brushfield spots are relatively common in the general population but opccur more frequently in persons with certain disorders (especially Down syndrome).
subclass of: HP_0008034
notation: HP:0001088

Iris atrophy
tree view: Abnormality iris morphology
IAO_0000115: Loss of iris tissue (atrophy)
has db xref: SNOMEDCT_US:95709007
has db xref: UMLS:C0423319
has exact synonym: Iris degeneration
has OBO namespace: human_phenotype
id: HP:0001089
type: Class
subclass of: Abnormality iris morphology
notation: HP:0001089

Abnormally large globe
tree view: HP_0100887
IAO_0000115: Diffusely large eye (with megalocornea) without glaucoma.
has alternative id: HP:0200093
has db xref: SNOMEDCT_US:246920008
has db xref: UMLS:C0423221
has db xref: UMLS:C1855852
has db xref: UMLS:C4280603
has exact synonym: Increased size of eyes
has exact synonym: Large eyes
has exact synonym: Megalophthalmos
has OBO namespace: human_phenotype
has related synonym: Increased size of palpebral fissures
has related synonym: Large eyeballs
has related synonym: Large of palpebral fissures
id: HP:0001090
type: Class
comment: Note that Increased size of palpebral fissues is not a synonym of this term.
subclass of: HP_0100887
notation: HP:0001090

HP_0001091
IAO_0000231: IAO_0000227
IAO_0100001: HP_0007663
type: Class
deprecated: true
notation: HP:0001091

Absent lacrimal punctum
tree view: HP_0011479
IAO_0000115: No identifiable superior and/or inferior lacrimal punctum.
has alternative id: HP:0007977
has db xref: MSH:C566703
has db xref: SNOMEDCT_US:204208005
has db xref: SNOMEDCT_US:253217007
has db xref: UMLS:C0344509
has db xref: UMLS:C1867060
has exact synonym: Absent lacrimal gland puncta
has exact synonym: Absent lacrimal openings
has exact synonym: Absent lacrimal puncta
has exact synonym: Aplasia of lacrimal puncta
has exact synonym: Lacrimal puncta aplasia
has exact synonym: Lacrimal punctum, absence
has OBO namespace: human_phenotype
has related synonym: Agenesis of the lacrimal punctum
id: HP:0001092
in subset: hposlim core
type: Class
comment: The lacrimal puncta (openings of the tear ducts) are normally located at the medial margin of each eyelid. The opening on the lower eyelid border is more visible than the opening on the upper eyelid border.
subclass of: HP_0011479
notation: HP:0001092

Optic nerve dysplasia
tree view: Abnormality of the optic nerve
IAO_0000115: The presence of developmental dysplasia of the optic nerve.
has db xref: UMLS:C2676026
has OBO namespace: human_phenotype
id: HP:0001093
type: Class
subclass of: Abnormality of the optic nerve
notation: HP:0001093

Iridocyclitis
tree view: HP_0012122
IAO_0000115: A type of anterior uveitis, in which there is Inflammation of the iris and the ciliary body.
has db xref: MSH:D015863
has db xref: SNOMEDCT_US:77971008
has db xref: UMLS:C0022073
has OBO namespace: human_phenotype
id: HP:0001094
type: Class
subclass of: HP_0012122
notation: HP:0001094

Hypertensive retinopathy
tree view: HP_0008046
has db xref: MSH:D058437
has db xref: SNOMEDCT_US:6962006
has db xref: UMLS:C0152132
has OBO namespace: human_phenotype
id: HP:0001095
in subset: secondary consequence
type: Class
subclass of: HP_0008046
notation: HP:0001095

Keratoconjunctivitis
tree view: Keratitis
tree view: Conjunctivitis
IAO_0000115: Inflammation of the cornea and conjunctiva.
has db xref: MSH:D007637
has db xref: SNOMEDCT_US:88151007
has db xref: UMLS:C0022573
has OBO namespace: human_phenotype
id: HP:0001096
in subset: hposlim core
type: Class
subclass of: Keratitis
subclass of: Conjunctivitis
notation: HP:0001096

Keratoconjunctivitis sicca
tree view: Keratoconjunctivitis
IAO_0000115: Dryness of the eye related to deficiency of the tear film components (aqueous, mucin, or lipid), lid surface abnormalities, or epithelial abnormalities. Keratoconjunctivitis sicca often results in a scratchy or sandy sensation (foreign body sensation) in the eyes, and may also be associated with itching, inability to produce tears, photosensitivity, redness, pain, and difficulty in moving the eyelids.
has db xref: MSH:C531719
has db xref: MSH:D007638
has db xref: MSH:D014985
has db xref: MSH:D015352
has db xref: SNOMEDCT_US:302896008
has db xref: SNOMEDCT_US:363677007
has db xref: SNOMEDCT_US:46152009
has db xref: UMLS:C0013238
has db xref: UMLS:C0022575
has db xref: UMLS:C0043349
has db xref: UMLS:C2930821
has exact synonym: Dry eyes
has exact synonym: Keratitis sicca
has exact synonym: Xerophthalmia
has OBO namespace: human_phenotype
has related synonym: Dry eye syndrome
id: HP:0001097
in subset: hposlim core
type: Class
subclass of: Keratoconjunctivitis
notation: HP:0001097

Abnormal fundus morphology
tree view: Abnormal posterior eye segment morphology
IAO_0000115: Any structural abnormality of the fundus of the eye.
has db xref: UMLS:C4025804
has exact synonym: Abnormality of the fundus
has OBO namespace: human_phenotype
id: HP:0001098
type: Class
subclass of: Abnormal posterior eye segment morphology
notation: HP:0001098

Fundus atrophy
tree view: Abnormal fundus morphology
has db xref: UMLS:C2673929
has OBO namespace: human_phenotype
id: HP:0001099
type: Class
subclass of: Abnormal fundus morphology
notation: HP:0001099

Heterochromia iridis
tree view: HP_0200064
IAO_0000115: Heterochromia iridis is a difference in the color of the iris in the two eyes.
has db xref: MSH:C538115
has db xref: SNOMEDCT_US:247033008
has db xref: UMLS:C0423318
has exact synonym: Different colored eyes
has exact synonym: Heterochromia irides
has OBO namespace: human_phenotype
id: HP:0001100
in subset: hposlim core
type: Class
subclass of: HP_0200064
notation: HP:0001100

Iritis
tree view: Abnormality iris morphology
IAO_0000115: Inflammation of the iris.
has db xref: MSH:D007500
has db xref: SNOMEDCT_US:65074000
has db xref: UMLS:C0022081
has exact synonym: Inflammation of iris
has OBO namespace: human_phenotype
id: HP:0001101
type: Class
subclass of: Abnormality iris morphology
notation: HP:0001101

Angioid streaks of the fundus
tree view: Abnormal retinal morphology
IAO_0000115: Irregular lines in the deep retina that are typically configured in a radiating fashion and emanate from the optic disc. Angioid streaks are crack-like dehiscences in abnormally thickened and calcified Bruch's membrane, resulting in atrophy of the overlying retinal pigment epithelium. They may be associated with a number of endocrine, metabolic, and connective tissue abnormalities but are frequently idiopathic.
has db xref: MSH:D000793
has db xref: UMLS:C0002982
has exact synonym: Angioid streaks
has exact synonym: Angioid streaks of the retina
has exact synonym: Angioid streaks, retina
has exact synonym: Laquer cracks of the retina
has OBO namespace: human_phenotype
id: HP:0001102
type: Class
comment: Angioid streaks result from breaks in a weakened Bruch's membrane.
subclass of: Abnormal retinal morphology
notation: HP:0001102

Abnormal macular morphology
tree view: Abnormal retinal morphology
IAO_0000115: A structural abnormality of the macula lutea, which is an oval-shaped highly pigmented yellow spot near the center of the retina.
has db xref: SNOMEDCT_US:312999006
has db xref: UMLS:C0730362
has exact synonym: Abnormality of the macula
has exact synonym: Macula abnormality
has exact synonym: Macular abnormality
has OBO namespace: human_phenotype
id: HP:0001103
in subset: hposlim core
type: Class
comment: The term macula derives from the presence of the xanthophyll pigments, lutein and zeaxanthin, in a region five to six millimetres in diameter at the posterior pole of the eye, appearing as a yellow spot (macula lutea), when viewed in red-free light.
subclass of: Abnormal retinal morphology
notation: HP:0001103

Macular hypoplasia
tree view: HP_0008059
IAO_0000115: Underdevelopment of the macula lutea.
has db xref: UMLS:C1849412
has OBO namespace: human_phenotype
id: HP:0001104
in subset: hposlim core
type: Class
subclass of: HP_0008059
notation: HP:0001104

Retinal atrophy
tree view: Retinal degeneration
IAO_0000115: Well-demarcated area(s) of partial or complete depigmentation in the fundus, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss.
has db xref: MSH:D012162
has db xref: SNOMEDCT_US:405722004
has db xref: SNOMEDCT_US:95695004
has db xref: UMLS:C0035304
has db xref: UMLS:C0521694
has OBO namespace: human_phenotype
id: HP:0001105
type: Class
subclass of: Retinal degeneration
notation: HP:0001105

Periorbital hyperpigmentation
tree view: Abnormality of the periorbital region
tree view: Abnormality of skin pigmentation
IAO_0000115: Increased pigmentation of the skin in the region surrounding the orbit of the eye.
has db xref: UMLS:C1844606
has exact synonym: Dark circles around the eyes
has exact synonym: Dark circles under the eyes
has exact synonym: Darkening around the eyes
has exact synonym: Idiopathic cutaneous hyperchromia at the orbital region
has exact synonym: Infraorbital pigmentation
has exact synonym: Periorbital melanosis
has exact synonym: Pigmentation around the eyes
has OBO namespace: human_phenotype
id: HP:0001106
type: Class
subclass of: Abnormality of the periorbital region
subclass of: Abnormality of skin pigmentation
notation: HP:0001106

Ocular albinism
tree view: Abnormal fundus morphology
tree view: HP_0007730
IAO_0000115: An abnormal reduction in the amount of pigmentation (reduced or absent) of the iris and retina.
has alternative id: HP:0007745
has alternative id: HP:0007837
has db xref: MSH:D016117
has db xref: SNOMEDCT_US:26399002
has db xref: UMLS:C0078917
has exact synonym: Absent pigmentation in the eye
has exact synonym: Albinism, Ocular
has OBO namespace: human_phenotype
id: HP:0001107
type: Class
comment: Ocular pigmentation is essential for normal vision, and persons with ocular albinism tend to have severely reduced visual acuity often associated with nystagmus, strabismus, and photophobia.
subclass of: Abnormal fundus morphology
subclass of: HP_0007730
notation: HP:0001107

HP_0001108
IAO_0000231: IAO_0000227
IAO_0100001: Developmental cataract
type: Class
deprecated: true
notation: HP:0001108

HP_0001109
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009921
type: Class
deprecated: true
notation: HP:0001109

HP_0001110
IAO_0000231: IAO_0000227
IAO_0100001: Myopia
type: Class
deprecated: true
notation: HP:0001110

HP_0001111
IAO_0000231: IAO_0000227
IAO_0100001: HP_0007894
type: Class
deprecated: true
notation: HP:0001111

Leber optic atrophy
tree view: Abnormality of the optic nerve
IAO_0000115: Degeneration of retinal ganglion cells and their axons.
has alternative id: HP:0001086
has db xref: MSH:D029242
has db xref: SNOMEDCT_US:58610003
has db xref: UMLS:C0917796
has exact synonym: Leber optic atrophy features
has exact synonym: Leber optic degeneration
has OBO namespace: human_phenotype
id: HP:0001112
type: Class
subclass of: Abnormality of the optic nerve
notation: HP:0001112

obsolete Early cataracts
IAO_0000231: IAO_0000227
IAO_0100001: Cataract
IAO_0100001: HP:0000518
has OBO namespace: human_phenotype
id: HP:0001113
type: Class
deprecated: true
notation: HP:0001113

Xanthelasma
tree view: Xanthomatosis
tree view: HP_0010732
IAO_0000115: The presence of xanthomata in the skin of the eyelid.
has db xref: MSH:D014973
has db xref: SNOMEDCT_US:63103006
has db xref: SNOMEDCT_US:6400008
has db xref: SNOMEDCT_US:75594004
has db xref: UMLS:C0155210
has db xref: UMLS:C0302314
has db xref: UMLS:C4280601
has db xref: UMLS:C4280602
has exact synonym: Fatty deposits in skin around the eyes
has exact synonym: Fatty deposits on eyelids
has exact synonym: Xanthelasma palpebrarum
has exact synonym: Xanthoma
has narrow synonym: Xanthelasma of eyelid
has narrow synonym: Xanthelasma of periocular region
has narrow synonym: Xanthoma of eyelid
has narrow synonym: Xanthoma of periocular region
has OBO namespace: human_phenotype
id: HP:0001114
type: Class
subclass of: Xanthomatosis
subclass of: HP_0010732
notation: HP:0001114

Posterior polar cataract
tree view: HP_0010696
IAO_0000115: A polar cataract that affects the posterior pole of the lens.
has db xref: UMLS:C1850191
has OBO namespace: human_phenotype
id: HP:0001115
type: Class
subclass of: HP_0010696
notation: HP:0001115

Macular coloboma
tree view: Retinal coloboma
tree view: Abnormal macular morphology
IAO_0000115: A congenital defect of the macula distinct from coloboma associated with optic fissure closure defects. Macular coloboma is characterized by a sharply defined, rather large defect in the central area of the fundus that is oval or round, and coarsely pigmented.
has db xref: MSH:C535968
has db xref: UMLS:C1852767
has OBO namespace: human_phenotype
id: HP:0001116
type: Class
subclass of: Retinal coloboma
subclass of: Abnormal macular morphology
notation: HP:0001116

Sudden loss of visual acuity
tree view: HP_0007663
IAO_0000115: Severe loss of visual acuity within hours or days. This is characteristic of Leber hereditary optic neuropathy.
has broad synonym: Sudden decrease in vision
has db xref: UMLS:C4025803
has db xref: UMLS:C4072828
has db xref: UMLS:C4280600
has OBO namespace: human_phenotype
has related synonym: Sudden central visual loss
id: HP:0001117
type: Class
subclass of: HP_0007663
notation: HP:0001117

Juvenile cataract
tree view: Cataract
IAO_0000115: A type of cataract that is not apparent at birth but that arises in childhood or adolescence.
has db xref: SNOMEDCT_US:399336001
has db xref: UMLS:C0302254
has OBO namespace: human_phenotype
id: HP:0001118
type: Class
comment: Juvenile cataracts are generally either hereditary (especially if bilateral) or due to trauma (especially if unilateral).
subclass of: Cataract
notation: HP:0001118

Keratoglobus
tree view: HP_0007700
tree view: HP_0100689
tree view: HP_0100692
IAO_0000115: Limbus-to-limbus corneal thinning, often greatest in the periphery, with globular protrusion of the cornea.
has db xref: UMLS:C3887531
has OBO namespace: human_phenotype
id: HP:0001119
in subset: hposlim core
type: Class
subclass of: HP_0007700
subclass of: HP_0100689
subclass of: HP_0100692
notation: HP:0001119

Abnormality of corneal size
tree view: Abnormal cornea morphology
IAO_0000115: Any abnormality of the size or morphology of the cornea.
has db xref: UMLS:C4025802
has OBO namespace: human_phenotype
id: HP:0001120
type: Class
subclass of: Abnormal cornea morphology
notation: HP:0001120

HP_0001121
IAO_0000231: IAO_0000227
IAO_0100001: Plagiocephaly
type: Class
deprecated: true
notation: HP:0001121

obsolete Aplasia/Hypoplasia of the choroid
IAO_0000231: IAO_0000227
IAO_0100001: Abnormal choroid morphology
consider: HP:0000610
has OBO namespace: human_phenotype
id: HP:0001122
type: Class
deprecated: true
notation: HP:0001122

Visual field defect
tree view: Visual impairment
has db xref: SNOMEDCT_US:12184005
has db xref: UMLS:C3887875
has exact synonym: Partial loss of field of vision
has exact synonym: Visual field defects
has OBO namespace: human_phenotype
id: HP:0001123
type: Class
subclass of: Visual impairment
notation: HP:0001123

HP_0001124
IAO_0000231: IAO_0000227
IAO_0100001: HP_0007814
type: Class
deprecated: true
notation: HP:0001124

Transient unilateral blurring of vision
tree view: Blurred vision
IAO_0000115: Transient blurring of vision associated with the aura phase of migraine.
has alternative id: HP:0000583
has db xref: UMLS:C1865332
has exact synonym: Hemianoptic blurring of vision
has exact synonym: Transient unilateral blurred vision
has OBO namespace: human_phenotype
has related synonym: Hemianopic blurring
id: HP:0001125
type: Class
comment: The anterior segment comprises the structures in front of the vitreous humour: the cornea, iris, ciliary body, and lens.
subclass of: Blurred vision
notation: HP:0001125

Cryptophthalmos
tree view: HP_0011226
IAO_0000115: Cryptophthalmos is a condition of total absence of eyelids and the skin of forehead is continuous with that of cheek, in which the eyeball is completely concealed by the skin, which is stretched over the orbital cavity.
has alternative id: HP:0008032
has db xref: SNOMEDCT_US:400951005
has db xref: UMLS:C0311249
has OBO namespace: human_phenotype
id: HP:0001126
in subset: hposlim core
type: Class
comment: Failure of eyelid formation. Crypopthalmos is typically associated with a rudimentary or small globe. Frequently, a tuft of hair accompanies the aberrant skin.
subclass of: HP_0011226
notation: HP:0001126

HP_0001127
IAO_0000231: IAO_0000227
IAO_0100001: Rod-cone dystrophy
type: Class
deprecated: true
notation: HP:0001127

Trichiasis
tree view: Abnormal eyelash morphology
IAO_0000115: Inversion and rubbing of the eyelashes against the globe of the eye.
has db xref: MSH:D058457
has db xref: SNOMEDCT_US:60332004
has db xref: UMLS:C0221259
has exact synonym: Ingrown eyelashes
has exact synonym: Introversion of eyelashes
has exact synonym: Trichiasis of eyelid eyelashes
has OBO namespace: human_phenotype
id: HP:0001128
type: Class
comment: Eyelash inversion.
subclass of: Abnormal eyelash morphology
notation: HP:0001128

Large central visual field defect
tree view: Visual field defect
has db xref: UMLS:C4025800
has exact synonym: Large central loss of field of vision
has OBO namespace: human_phenotype
id: HP:0001129
type: Class
subclass of: Visual field defect
notation: HP:0001129

HP_0001130
IAO_0000231: IAO_0000227
IAO_0100001: Papilledema
type: Class
deprecated: true
notation: HP:0001130

Corneal dystrophy
tree view: Abnormal cornea morphology
IAO_0000115: An abnormality of the cornea that is characterized by opacity of one or parts of the cornea.
has alternative id: HP:0007775
has db xref: SNOMEDCT_US:5587004
has db xref: UMLS:C0010036
has OBO namespace: human_phenotype
id: HP:0001131
in subset: hposlim core
type: Class
subclass of: Abnormal cornea morphology
notation: HP:0001131

Lens subluxation
tree view: Ectopia lentis
IAO_0000115: Partial dislocation of the lens of the eye.
has db xref: MSH:D007906
has db xref: SNOMEDCT_US:65814009
has db xref: UMLS:C0023316
has exact synonym: Partially dislocated lens
has OBO namespace: human_phenotype
id: HP:0001132
type: Class
comment: Partial dislocation of the lens of the eye can be recognized by trembling of the iris (iridodonesis).
subclass of: Ectopia lentis
notation: HP:0001132

Constriction of peripheral visual field
tree view: Visual field defect
IAO_0000115: An absolute or relative decrease in retinal sensitivity extending from edge (periphery) of the visual field in a concentric pattern. The visual field is the area that is perceived simultaneously by a fixating eye.
has alternative id: HP:0007887
has alternative id: HP:0007981
has db xref: SNOMEDCT_US:1151008
has db xref: SNOMEDCT_US:267628004
has db xref: UMLS:C0235095
has exact synonym: Concentric narrowing of visual field
has exact synonym: Constricted visual field
has exact synonym: Constricted visual fields
has exact synonym: Limited peripheral vision
has exact synonym: Visual field constriction
has OBO namespace: human_phenotype
id: HP:0001133
type: Class
subclass of: Visual field defect
notation: HP:0001133

Anterior polar cataract
tree view: HP_0010696
IAO_0000115: A polar cataract that affects the anterior pole of the lens.
has db xref: MSH:C538282
has db xref: UMLS:C1855179
has OBO namespace: human_phenotype
id: HP:0001134
type: Class
subclass of: HP_0010696
notation: HP:0001134

Chorioretinal dystrophy
tree view: Abnormal chorioretinal morphology
tree view: Retinal dystrophy
has alternative id: HP:0007712
has alternative id: HP:0007920
has db xref: UMLS:C1857627
has OBO namespace: human_phenotype
id: HP:0001135
type: Class
subclass of: Abnormal chorioretinal morphology
subclass of: Retinal dystrophy
notation: HP:0001135

Retinal arteriolar tortuosity
tree view: Abnormal retinal artery morphology
tree view: HP_0012841
IAO_0000115: The presence of an increased number of twists and turns of the retinal arterioles.
has db xref: UMLS:C1843517
has exact synonym: Tortuous retinal arterioles
has OBO namespace: human_phenotype
id: HP:0001136
type: Class
subclass of: Abnormal retinal artery morphology
subclass of: HP_0012841
notation: HP:0001136

Alternating esotropia
tree view: Esotropia
IAO_0000115: Esotropia in which either eye may be used for fixation.
has db xref: SNOMEDCT_US:39837002
has db xref: UMLS:C0152205
has exact synonym: Alternating cross eyes
has OBO namespace: human_phenotype
id: HP:0001137
type: Class
comment: Alternating suggests that the patient may be using either eye to fixate (which means that you do not have the same one eye squinting all the time).
subclass of: Esotropia
notation: HP:0001137

Optic neuropathy
tree view: Abnormality of the optic nerve
has alternative id: HP:0007806
has db xref: SNOMEDCT_US:82108004
has db xref: UMLS:C3887709
has exact synonym: Damaged optic nerve
has OBO namespace: human_phenotype
id: HP:0001138
type: Class
subclass of: Abnormality of the optic nerve
notation: HP:0001138

Choroideremia
tree view: Abnormal choroid morphology
has db xref: MSH:D015794
has db xref: SNOMEDCT_US:75241009
has db xref: UMLS:C0008525
has OBO namespace: human_phenotype
id: HP:0001139
type: Class
subclass of: Abnormal choroid morphology
notation: HP:0001139

Limbal dermoid
tree view: Abnormal cornea morphology
tree view: Abnormal conjunctiva morphology
tree view: Abnormal sclera morphology
IAO_0000115: A benign tumor typically found at the junction of the cornea and sclera (limbal epibullar dermoid).
has broad synonym: Benign eye tumor
has db xref: SNOMEDCT_US:5131000119107
has db xref: SNOMEDCT_US:92097004
has db xref: UMLS:C0496897
has db xref: UMLS:C1867616
has exact synonym: Epibulbar dermoid
has exact synonym: Epibulbar dermoids
has OBO namespace: human_phenotype
id: HP:0001140
in subset: hposlim core
type: Class
subclass of: Abnormal cornea morphology
subclass of: Abnormal conjunctiva morphology
subclass of: Abnormal sclera morphology
notation: HP:0001140

Severely reduced visual acuity
tree view: HP_0007663
IAO_0000115: Severe reduction of the ability to see defined as visual acuity less than 6/60 (20/200 in US notation; 0.1 in decimal notation) but at least 3/60 (20/400 in US notation; 0.05 in decimal notation).
has alternative id: HP:0007640
has alternative id: HP:0007842
has alternative id: HP:0007951
has alternative id: HP:0008023
has db xref: SNOMEDCT_US:397541004
has db xref: UMLS:C1301509
has exact synonym: Marked vision impairment
has exact synonym: Severe reduction in visual acuity
has exact synonym: Severe vision loss
has exact synonym: Severe visual impairment
has exact synonym: Severe visual loss
has exact synonym: Severely impaired vision
has OBO namespace: human_phenotype
id: HP:0001141
type: Class
subclass of: HP_0007663
notation: HP:0001141

Lenticonus
tree view: HP_0011526
IAO_0000115: A conical projection of the anterior or posterior surface of the lens, occurring as a developmental anomaly.
has db xref: SNOMEDCT_US:253221000
has db xref: UMLS:C0239119
has OBO namespace: human_phenotype
id: HP:0001142
in subset: hposlim core
type: Class
comment: A conical projection of the anterior or posterior surface of the lens.
subclass of: HP_0011526
notation: HP:0001142

HP_0001143
IAO_0000231: IAO_0000227
IAO_0100001: HP_0007633
type: Class
deprecated: true
notation: HP:0001143

Orbital cyst
tree view: Abnormality of the orbital region
IAO_0000115: Presence of a cyst in the region of the periorbital tissues. Orbital cysts can be derived from epithelial or glandular tissue within or surrounding the orbit (lacrimal glands, salivary glands, conjunctival, oral, nasal, or sinus epithelium).
has db xref: SNOMEDCT_US:31021007
has db xref: UMLS:C0155285
has exact synonym: Cyst of eye socket
has exact synonym: Orbital cysts
has OBO namespace: human_phenotype
id: HP:0001144
type: Class
subclass of: Abnormality of the orbital region
notation: HP:0001144

obsolete Chorioretinopathy
IAO_0000231: IAO_0000227
IAO_0100001: Abnormal chorioretinal morphology
consider: HP:0000532
has OBO namespace: human_phenotype
id: HP:0001145
type: Class
deprecated: true
notation: HP:0001145

obsolete Pigmentary retinal degeneration
IAO_0000231: IAO_0000227
IAO_0100001: Pigmentary retinopathy
IAO_0100001: HP:0000580
has OBO namespace: human_phenotype
id: HP:0001146
type: Class
deprecated: true
notation: HP:0001146

Retinal exudate
tree view: HP_0030506
IAO_0000115: Fluid which has escaped from retinal blood vessels with a high concentration of lipid, protein, and cellular debris with a typically bright, reflective, white or cream colored appearance on the surface of the retina.
has db xref: SNOMEDCT_US:39832008
has db xref: UMLS:C0240897
has exact synonym: Retinal exudates
has OBO namespace: human_phenotype
id: HP:0001147
type: Class
comment: Retinal exudates indicate increased vessel permeability and an associated risk of retinal edema.
subclass of: HP_0030506
notation: HP:0001147

HP_0001148
IAO_0000231: IAO_0000227
IAO_0100001: Optic disc pallor
type: Class
deprecated: true
notation: HP:0001148

Lattice corneal dystrophy
tree view: Corneal dystrophy
IAO_0000115: The presence of fine, branching linear opacities in Bowman's layer in the central area that may spread to the periphery in the clinical course. The deep corneal stroma may be involved but the process does not reach Descemet's membrane. Recurrent corneal erosion may occur. Histologic examination reveals amyloid deposits in the collagen fibers of the cornea.
has db xref: MSH:D028227
has db xref: SNOMEDCT_US:1192004
has db xref: SNOMEDCT_US:361199007
has db xref: UMLS:C0155127
has exact synonym: Biber haab dimmer dystrophy
has OBO namespace: human_phenotype
id: HP:0001149
type: Class
subclass of: Corneal dystrophy
notation: HP:0001149

obsolete Choroidal sclerosis
IAO_0000231: IAO_0000227
IAO_0100001: Chorioretinal atrophy
consider: HP:0000532
has OBO namespace: human_phenotype
id: HP:0001150
type: Class
deprecated: true
notation: HP:0001150

Impaired horizontal smooth pursuit
tree view: HP_0007772
IAO_0000115: An abnormality of ocular smooth pursuit characterized by an impairment of the ability to track horizontally moving objects.
has db xref: UMLS:C1866753
has exact synonym: Abnormal horizontal ocular pursuit
has exact synonym: Impaired horizontal visual pursuit
has OBO namespace: human_phenotype
id: HP:0001151
type: Class
subclass of: HP_0007772
notation: HP:0001151

Saccadic smooth pursuit
tree view: Abnormality of ocular smooth pursuit
IAO_0000115: An abnormality of tracking eye movements in which smooth pursuit is interrupted by an abnormally high number of saccadic movements.
has alternative id: HP:0000530
has db xref: UMLS:C1836479
has exact synonym: Saccadic pursuit movements
has exact synonym: Saccadic slow pursuit
has OBO namespace: human_phenotype
id: HP:0001152
type: Class
comment: Tracking eye movements consist of two different components, namely, smooth pursuit and saccades. Smooth pursuit, or just pursuit, is a class of rather slow eye movements that minimizes retinal target motion. Saccades are rapid eye movements that align the fovea with the target.
subclass of: Abnormality of ocular smooth pursuit
notation: HP:0001152

Septate vagina
tree view: Abnormal vagina morphology
IAO_0000115: The presence of a vaginal septum, thereby creating a vaginal duplication. The septum is longitudinal in the majority of cases.
has db xref: SNOMEDCT_US:47054003
has db xref: UMLS:C0266411
has exact synonym: Double vagina
has OBO namespace: human_phenotype
id: HP:0001153
type: Class
subclass of: Abnormal vagina morphology
notation: HP:0001153

HP_0001154
IAO_0000231: IAO_0000227
IAO_0100001: Hypoplasia of the uterus
type: Class
deprecated: true
notation: HP:0001154

Abnormality of the hand
tree view: Abnormality of the upper limb
IAO_0000115: An abnormality affecting one or both hands.
has alternative id: HP:0005858
has db xref: MSH:D006226
has db xref: SNOMEDCT_US:299033004
has db xref: UMLS:C0018564
has exact synonym: Abnormal hands
has exact synonym: Abnormality of the hand
has exact synonym: Hand anomalies
has exact synonym: Hand deformities
has OBO namespace: human_phenotype
id: HP:0001155
in subset: hposlim core
type: Class
subclass of: Abnormality of the upper limb
notation: HP:0001155

Brachydactyly
tree view: HP_0011927
IAO_0000115: Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.
has alternative id: HP:0001189
has alternative id: HP:0001201
has alternative id: HP:0005630
has alternative id: HP:0005657
has alternative id: HP:0005727
has alternative id: HP:0006017
has alternative id: HP:0006128
has alternative id: HP:0100667
has db xref: MSH:D059327
has db xref: SNOMEDCT_US:43476002
has db xref: UMLS:C0221357
has exact synonym: Brachydactyly syndrome
has exact synonym: Short fingers or toes
has OBO namespace: human_phenotype
id: HP:0001156
type: Class
subclass of: HP_0011927
notation: HP:0001156

HP_0001157
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009466
type: Class
deprecated: true
notation: HP:0001157

HP_0001158
IAO_0000231: IAO_0000227
IAO_0100001: Clinodactyly of the 5th finger
type: Class
deprecated: true
notation: HP:0001158

Syndactyly
tree view: HP_0011297
IAO_0000115: Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are referred to as "symphalangism".
has alternative id: HP:0001206
has alternative id: HP:0001236
has db xref: Fyler:4174
has db xref: MSH:D013576
has db xref: SNOMEDCT_US:373413006
has db xref: UMLS:C0039075
has exact synonym: Webbed fingers or toes
has OBO namespace: human_phenotype
id: HP:0001159
type: Class
comment: Syndactyly may be partial or complete. In complete syndactyly, the skin is joined all the way to the fingertip. In partial (incomplete) syndactyly, the skin is only joined part of the distance to the fingertip.
subclass of: HP_0011297
notation: HP:0001159

HP_0001160
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009473
type: Class
deprecated: true
notation: HP:0001160

Hand polydactyly
tree view: HP_0009997
tree view: HP_0010442
IAO_0000115: A kind of polydactyly characterized by the presence of a supernumerary finger or fingers.
has db xref: MEDDRA:10036064
has db xref: SNOMEDCT_US:81793007
has db xref: UMLS:C0158733
has exact synonym: Extra finger
has exact synonym: Finger polydactyly
has exact synonym: Polydactyly of the hand
has exact synonym: Supernumerary finger
has OBO namespace: human_phenotype
id: HP:0001161
in subset: hposlim core
type: Class
subclass of: HP_0009997
subclass of: HP_0010442
notation: HP:0001161

Postaxial hand polydactyly
tree view: Hand polydactyly
tree view: Abnormal 5th finger morphology
tree view: HP_0100259
IAO_0000115: Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger).
has alternative id: HP:0004698
has alternative id: HP:0005763
has alternative id: HP:0009984
has db xref: SNOMEDCT_US:205131007
has db xref: UMLS:C0431904
has exact synonym: Extra little finger
has exact synonym: Extra pinkie finger
has exact synonym: Extra pinky finger
has exact synonym: Polydactyly affecting the 5th finger
has exact synonym: Polydactyly, postaxial
has exact synonym: Postaxial polydactyly of fingers
has exact synonym: Postaxial polydactyly of hand
has exact synonym: Postaxial polydactyly of hands
has OBO namespace: human_phenotype
id: HP:0001162
in subset: hposlim core
type: Class
subclass of: Hand polydactyly
subclass of: Abnormal 5th finger morphology
subclass of: HP_0100259
notation: HP:0001162

Abnormality of the metacarpal bones
tree view: Abnormality of the hand
tree view: HP_0040070
IAO_0000115: An abnormality of the metacarpal bones.
has db xref: UMLS:C4021785
has exact synonym: Abnormality of the long bone of hand
has exact synonym: Anomaly of the metacarpal bones
has OBO namespace: human_phenotype
id: HP:0001163
type: Class
subclass of: Abnormality of the hand
subclass of: HP_0040070
notation: HP:0001163

HP_0001164
IAO_0000231: IAO_0000227
IAO_0100001: HP_0010049
type: Class
deprecated: true
notation: HP:0001164

HP_0001165
IAO_0000231: IAO_0000227
IAO_0100001: Short palm
type: Class
deprecated: true
notation: HP:0001165

Arachnodactyly
tree view: Slender finger
tree view: HP_0100807
IAO_0000115: Abnormally long and slender fingers ("spider fingers").
has alternative id: HP:0001505
has db xref: MSH:D054119
has db xref: SNOMEDCT_US:62250003
has db xref: UMLS:C0003706
has exact synonym: Long slender fingers
has exact synonym: Long, slender fingers
has exact synonym: Spider fingers
has OBO namespace: human_phenotype
id: HP:0001166
type: Class
subclass of: Slender finger
subclass of: HP_0100807
notation: HP:0001166

Abnormality of finger
tree view: Abnormality of the hand
tree view: HP_0011297
IAO_0000115: An anomaly of a finger.
has alternative id: HP:0003035
has db xref: UMLS:C2674737
has exact synonym: Abnormalities of the fingers
has exact synonym: Abnormality of finger
has OBO namespace: human_phenotype
id: HP:0001167
type: Class
subclass of: Abnormality of the hand
subclass of: HP_0011297
notation: HP:0001167

HP_0001168
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009803
type: Class
deprecated: true
notation: HP:0001168

Broad palm
tree view: HP_0100871
IAO_0000115: For children from birth to 4 years of age the palm width is more than 2 SD above the mean; for children from 4 to 16 years of age the palm width is above the 95th centile; or, the width of the palm appears disproportionately wide for the length.
has alternative id: HP:0001174
has db xref: SNOMEDCT_US:48251003
has db xref: UMLS:C0264142
has exact synonym: Broad hand
has exact synonym: Broad hands
has exact synonym: Broad palm
has exact synonym: Wide palm
has OBO namespace: human_phenotype
id: HP:0001169
type: Class
comment: Hand width is measured across the palm at the level of the MCPJ (radial aspect of the second MCPJ to the ulnar aspect of the fifth MCPJ) [Hall et al., 2007]. Caution is advised with the subjective assessment as short metacarpals can mimic a broad palm. In persons with polydactyly that includes a supernumerary metacarpal, that should be separately coded and the measurement technique from Hall et al, [2007] would need to be modified to account for the supernumerary digit (i.e., with postaxial polydactyly, measure to the sixth MCPJ).
subclass of: HP_0100871
notation: HP:0001169

HP_0001170
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009623
type: Class
deprecated: true
notation: HP:0001170

Split hand
tree view: Abnormality of the hand
tree view: HP_0100257
IAO_0000115: A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middel fingers as far as oligo- or monodactyl hands.
has alternative id: HP:0001247
has alternative id: HP:0003050
has db xref: SNOMEDCT_US:299034005
has db xref: UMLS:C0221373
has exact synonym: Claw hand
has exact synonym: Claw hand deformities
has exact synonym: Claw hands
has exact synonym: Claw-hand deformities
has exact synonym: Ectrodactyly of the hand
has exact synonym: Hand ectrodactyly
has exact synonym: Split hand
has exact synonym: Split-hand
has OBO namespace: human_phenotype
id: HP:0001171
type: Class
subclass of: Abnormality of the hand
subclass of: HP_0100257
notation: HP:0001171

Abnormal thumb morphology
tree view: Abnormality of finger
IAO_0000115: An abnormal structure of the first digit of the hand.
has db xref: MSH:C536903
has db xref: SNOMEDCT_US:299130003
has db xref: UMLS:C0575897
has exact synonym: Abnormality of the thumb
has exact synonym: Abnormality of the thumbs
has exact synonym: Thumb deformity
has OBO namespace: human_phenotype
id: HP:0001172
type: Class
subclass of: Abnormality of finger
notation: HP:0001172

HP_0001173
IAO_0000231: IAO_0000227
IAO_0100001: HP_0011304
type: Class
deprecated: true
notation: HP:0001173

HP_0001174
IAO_0000231: IAO_0000227
IAO_0100001: Broad palm
type: Class
deprecated: true
notation: HP:0001174

HP_0001175
IAO_0000231: IAO_0000227
IAO_0100001: HP_0010230
type: Class
deprecated: true
notation: HP:0001175

Large hands
tree view: HP_0005922
has alternative id: HP:0002820
has alternative id: HP:0006044
has alternative id: HP:0006219
has db xref: SNOMEDCT_US:249752003
has db xref: UMLS:C0426870
has exact synonym: Disproportionately large hands
has exact synonym: Large hands
has exact synonym: large hand
has OBO namespace: human_phenotype
id: HP:0001176
type: Class
subclass of: HP_0005922
notation: HP:0001176

Preaxial hand polydactyly
tree view: Hand polydactyly
tree view: Abnormal thumb morphology
tree view: HP_0100258
IAO_0000115: Supernumerary digits located at the radial side of the hand. Polydactyly (supernumerary digits) involving the thumb occurs in many distinct forms of high variability and severity. Ranging from fleshy nubbins over varying degrees of partial duplication/splitting to completely duplicated or even triplicated thumbs or preaxial (on the radial side of the hand) supernumerary digits.
has alternative id: HP:0005629
has alternative id: HP:0005634
has alternative id: HP:0006182
has alternative id: HP:0009604
has db xref: MSH:C536332
has db xref: SNOMEDCT_US:205135003
has db xref: SNOMEDCT_US:445216006
has db xref: UMLS:C1395852
has exact synonym: Extra thumb
has exact synonym: Polydactyly affecting the thumb
has exact synonym: Preaxial polydactyly of hands
has exact synonym: Supernumerary thumb
has exact synonym: thumb polydactyly
has OBO namespace: human_phenotype
id: HP:0001177
type: Class
subclass of: Hand polydactyly
subclass of: Abnormal thumb morphology
subclass of: HP_0100258
notation: HP:0001177

Ulnar claw
tree view: Abnormality of the hand
IAO_0000115: An abnormal hand position characterized by hyperextension of the fourth and fifth fingers at the metacarpophalangeal joints and flexion of the interphalangeal joints of the same fingers such that they are curled towards the palm.
has db xref: UMLS:C4025799
has OBO namespace: human_phenotype
id: HP:0001178
type: Class
comment: An ulnar claw, also known as claw hand, is an abnormal hand position that is associated with lesions of the ulnar nerve. Note that ulnar claw is to be distinguished from ectrodactyly, which also can be referred to as claw hand.
subclass of: Abnormality of the hand
notation: HP:0001178

HP_0001179
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009771
type: Class
deprecated: true
notation: HP:0001179

Hand oligodactyly
tree view: HP_0009380
tree view: HP_0012165
IAO_0000115: A developmental defect resulting in the presence of fewer than the normal number of fingers.
has db xref: SNOMEDCT_US:71358006
has db xref: UMLS:C0728895
has exact synonym: Hand has less than 5 fingers
has OBO namespace: human_phenotype
id: HP:0001180
type: Class
subclass of: HP_0009380
subclass of: HP_0012165
notation: HP:0001180

Adducted thumb
tree view: Abnormal thumb morphology
IAO_0000115: In the resting position, the tip of the thumb is on, or near, the palm, close to the base of the fourth or fifth finger.
has alternative id: HP:0005646
has db xref: UMLS:C3554617
has exact synonym: Adducted thumbs
has exact synonym: Inward turned thumb
has OBO namespace: human_phenotype
id: HP:0001181
type: Class
comment: The thumb is both flexed and adducted. Lesser degrees of adduction than that specified here may warrant the use of this term, for example, when the tip of the thumb lies near the base of F2 or F3.
subclass of: Abnormal thumb morphology
notation: HP:0001181

Tapered finger
tree view: HP_0100807
IAO_0000115: The gradual reduction in girth of the finger from proximal to distal.
has alternative id: HP:0005795
has alternative id: HP:0005800
has alternative id: HP:0006032
has alternative id: HP:0006080
has alternative id: HP:0006098
has alternative id: HP:0006111
has alternative id: HP:0006125
has alternative id: HP:0006244
has alternative id: HP:0007532
has db xref: SNOMEDCT_US:249768009
has db xref: UMLS:C0426886
has exact synonym: Distally tapering fingers
has exact synonym: Tapered finger
has exact synonym: Tapered fingertips
has exact synonym: Tapering fingers
has OBO namespace: human_phenotype
has related synonym: Tapered fingers
id: HP:0001182
in subset: hposlim core
type: Class
subclass of: HP_0100807
notation: HP:0001182

HP_0001183
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009778
type: Class
deprecated: true
notation: HP:0001183

HP_0001184
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009183
type: Class
deprecated: true
notation: HP:0001184

HP_0001185
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009777
type: Class
deprecated: true
notation: HP:0001185

HP_0001186
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009778
type: Class
deprecated: true
notation: HP:0001186

Hyperextensibility of the finger joints
tree view: HP_0006094
IAO_0000115: The ability of the finger joints to move beyond their normal range of motion.
has alternative id: HP:0006158
has db xref: UMLS:C1844577
has exact synonym: Finger joint hyperextensibility
has exact synonym: Hyperextensible digits
has exact synonym: Hyperextensible finger
has OBO namespace: human_phenotype
has related synonym: Hyperextensible fingers
id: HP:0001187
type: Class
subclass of: HP_0006094
notation: HP:0001187

Hand clenching
tree view: HP_0005922
IAO_0000115: An abnormal hand posture in which the hands are clenched to fists. All digits held completely flexed at the metacarpophalangeal and interphalangeal joints.
has db xref: UMLS:C0239815
has exact synonym: Clenched hands
has exact synonym: Hand clenching
has OBO namespace: human_phenotype
id: HP:0001188
in subset: hposlim core
type: Class
comment: Hand clenching is commonly characterized by malpositioning of the fingers characterized by radial deviation of the 4th and 5th digits and ulnar deviation of the 2nd digit over the 3rd finger. Hand clenching is distinguished from Camptodactyly, as that term may describe fewer than five digits of a eudactylous hand and does not involve the MCPJ. The digits may overlap when they lie flexed in the palm. It is not necessary to specify the overlapping fingers finding separately.
subclass of: HP_0005922
notation: HP:0001188

HP_0001189
IAO_0000231: IAO_0000227
IAO_0100001: Brachydactyly
type: Class
deprecated: true
notation: HP:0001189

HP_0001190
IAO_0000231: IAO_0000227
IAO_0100001: HP_0010034
type: Class
deprecated: true
notation: HP:0001190

Abnormality of the carpal bones
tree view: Abnormality of the hand
tree view: Abnormality of the wrist
IAO_0000115: An abnormality affecting the carpal bones of the wrist (scaphoid, lunate, triquetral, pisiform, trapezium, trapezoid, capitate, hamate).
has broad synonym: Abnormal wrist bones
has db xref: UMLS:C1840535
has exact synonym: Abnormal carpal bones
has exact synonym: Anomalous carpal bones
has exact synonym: Carpal bone anomalies
has OBO namespace: human_phenotype
id: HP:0001191
in subset: hposlim core
type: Class
subclass of: Abnormality of the hand
subclass of: Abnormality of the wrist
notation: HP:0001191

HP_0001192
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009702
type: Class
deprecated: true
notation: HP:0001192

Ulnar deviation of the hand or of fingers of the hand
tree view: HP_0009484
has db xref: UMLS:C4048199
has OBO namespace: human_phenotype
id: HP:0001193
type: Class
subclass of: HP_0009484
notation: HP:0001193

Abnormalities of placenta or umbilical cord
tree view: Abnormality of prenatal development or birth
IAO_0000115: An abnormality of the placenta (the organ that connects the developing fetus to the uterine wall) or of the umbilical cord (the cord that connects the fetus to the placenta).
has db xref: UMLS:C4025798
has exact synonym: Abnormalities of placenta or umbilical cord
has OBO namespace: human_phenotype
id: HP:0001194
type: Class
subclass of: Abnormality of prenatal development or birth
notation: HP:0001194

Single umbilical artery
tree view: HP_0010948
tree view: HP_0011403
tree view: HP_0011425
IAO_0000115: Single umbilical artery (SUA) is the absence of one of the two umbilical arteries surrounding the fetal bladder and in the fetal umbilical cord.
has db xref: MSH:D058529
has db xref: SNOMEDCT_US:204470001
has db xref: UMLS:C1384670
has exact synonym: 2 vessel cord
has exact synonym: 2 vessel umbilical cord
has exact synonym: Only one artery in umbilical cord instead of two
has exact synonym: Two vessel cord
has exact synonym: Two vessel umbilical cord
has OBO namespace: human_phenotype
id: HP:0001195
type: Class
comment: The umbilical cord normally has two arteries and one vein.
subclass of: HP_0010948
subclass of: HP_0011403
subclass of: HP_0011425
notation: HP:0001195

Short umbilical cord
tree view: HP_0010881
IAO_0000115: Decreased length of the umbilical cord.
has db xref: SNOMEDCT_US:59795007
has db xref: UMLS:C0266786
has exact synonym: Short umbilical cord
has OBO namespace: human_phenotype
id: HP:0001196
type: Class
subclass of: HP_0010881
notation: HP:0001196

Abnormality of prenatal development or birth
tree view: Phenotypic abnormality
IAO_0000115: An abnormality of the fetus or the birth of the fetus, excluding structural abnormalities.
has db xref: UMLS:C4025797
has exact synonym: Abnormality of prenatal development or birth
has OBO namespace: human_phenotype
id: HP:0001197
type: Class
comment: Because of the close link between prenatal developmental abnormalities and abnormalities of the birth process, a single term is chosen to subsume both classes of abnormality.
subclass of: Phenotypic abnormality
notation: HP:0001197

HP_0001198
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009882
type: Class
deprecated: true
notation: HP:0001198

Triphalangeal thumb
tree view: HP_0009602
IAO_0000115: A thumb with three phalanges in a single, proximo-distal axis. Thus, this term applies if the thumb has an accessory phalanx, leading to a digit like appearance of the thumb.
has alternative id: HP:0005846
has alternative id: HP:0006194
has alternative id: HP:0009610
has alternative id: HP:0009619
has db xref: MSH:C573898
has db xref: SNOMEDCT_US:205308004
has db xref: UMLS:C0241397
has exact synonym: Accessory phalanx of the thumb
has exact synonym: Digitalized thumb
has exact synonym: Finger-like thumb
has exact synonym: Triphalangeal thumbs
has exact synonym: Triphalangy of thumb
has OBO namespace: human_phenotype
id: HP:0001199
in subset: hposlim core
type: Class
comment: The requirement for a single PD axis relates to the issue that partial forms of Preaxial polydactyly may comprise a partially duplicated thumb with two distal phalanges and a single proximal phalanx. That finding is instead coded as a mild form of thumb polydactyly. Note that this finding can be readily assessed by examination and/or physical manipulation of the thumb.
subclass of: HP_0009602
notation: HP:0001199

HP_0001200
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009465
type: Class
deprecated: true
notation: HP:0001200

HP_0001201
IAO_0000231: IAO_0000227
IAO_0100001: Brachydactyly
type: Class
deprecated: true
notation: HP:0001201

HP_0001202
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009882
type: Class
deprecated: true
notation: HP:0001202

HP_0001203
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009486
type: Class
deprecated: true
notation: HP:0001203

Distal symphalangism of hands
tree view: HP_0009700
tree view: HP_0009773
tree view: HP_0009832
tree view: HP_0100263
IAO_0000115: The term distal symphalangism refers to a bony fusion of the distal and middle phalanges of the digits of the hand, in other words the distal interphalangeal joint (DIJ) is missing which can be seen either on x-rays or as an absence of the distal interphalangeal finger creases.
has alternative id: HP:0006079
has alternative id: HP:0006116
has alternative id: HP:0009841
has alternative id: HP:0009871
has db xref: UMLS:C1862158
has exact synonym: Fused outermost bones of hand
has exact synonym: Symphalangism affecting the distal phalanges of the hand
has exact synonym: Symphalangism, distal
has exact synonym: Synostosis of distal phalanges
has exact synonym: Terminal symphalangism
has OBO namespace: human_phenotype
id: HP:0001204
type: Class
subclass of: HP_0009700
subclass of: HP_0009773
subclass of: HP_0009832
subclass of: HP_0100263
notation: HP:0001204

HP_0001205
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009237
type: Class
deprecated: true
notation: HP:0001205

HP_0001206
IAO_0000231: IAO_0000227
IAO_0100001: Syndactyly
type: Class
deprecated: true
notation: HP:0001206

HP_0001207
IAO_0000231: IAO_0000227
IAO_0100001: HP_0010230
type: Class
deprecated: true
notation: HP:0001207

HP_0001208
IAO_0000231: IAO_0000227
IAO_0100001: HP_0005819
type: Class
deprecated: true
notation: HP:0001208

HP_0001209
IAO_0000231: IAO_0000227
IAO_0100001: Carpal bone hypoplasia
type: Class
deprecated: true
notation: HP:0001209

HP_0001210
IAO_0000231: IAO_0000227
IAO_0100001: HP_0010234
type: Class
deprecated: true
notation: HP:0001210

Abnormal fingertip morphology
tree view: Abnormality of finger
IAO_0000115: An abnormal structure of the tip (end) of a finger.
has db xref: UMLS:C4025796
has exact synonym: Abnormality of the fingertips
has OBO namespace: human_phenotype
id: HP:0001211
type: Class
subclass of: Abnormality of finger
notation: HP:0001211

Prominent fingertip pads
tree view: Abnormal fingertip morphology
tree view: HP_0011298
IAO_0000115: A soft tissue prominence of the ventral aspects of the fingertips. The term "persistent fetal fingertip pads" is often used as a synonym, but should better not be used because it implies knowledge of history of the patient which often does not exist.
has alternative id: HP:0001235
has db xref: UMLS:C1835807
has exact synonym: Persistence of fingerpads
has exact synonym: Persistent fetal fingertip pads
has exact synonym: Prominent finger pads
has exact synonym: Prominent fingertip pads
has OBO namespace: human_phenotype
id: HP:0001212
in subset: hposlim core
type: Class
subclass of: Abnormal fingertip morphology
subclass of: HP_0011298
notation: HP:0001212

HP_0001213
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009466
type: Class
deprecated: true
notation: HP:0001213

HP_0001214
IAO_0000231: IAO_0000227
IAO_0100001: HP_0010554
type: Class
deprecated: true
notation: HP:0001214

Camptodactyly of 2nd-5th fingers
tree view: HP_0100490
IAO_0000115: The distal interphalangeal joint and/or the proximal interphalangeal joint of the second to fifth fingers cannot be extended to 180 degrees by either active or passive extension.
has db xref: UMLS:C1859368
has OBO namespace: human_phenotype
id: HP:0001215
type: Class
subclass of: HP_0100490
notation: HP:0001215

Delayed ossification of carpal bones
tree view: HP_0006257
IAO_0000115: Ossification of carpal bones occurs later than age-adjusted norms.
has db xref: UMLS:C1841684
has db xref: UMLS:C4280599
has exact synonym: Carpal delayed ossification
has exact synonym: Delayed carpal bone age
has exact synonym: Delayed carpal ossification
has exact synonym: Delayed maturation of carpal bones
has OBO namespace: human_phenotype
has related synonym: Delayed maturation of wrist bone
id: HP:0001216
in subset: hposlim core
type: Class
subclass of: HP_0006257
notation: HP:0001216

Clubbing
tree view: HP_0011297
IAO_0000115: Broadening of the soft tissues (non-edematous swelling of soft tissues) of the digital tips in all dimensions associated with an increased longitudinal and lateral curvature of the nails.
has alternative id: HP:0003036
has alternative id: HP:0005874
has db xref: SNOMEDCT_US:367004
has db xref: UMLS:C0149651
has exact synonym: Clubbing of fingers and toes
has exact synonym: Digital clubbing
has OBO namespace: human_phenotype
id: HP:0001217
type: Class
comment: Non-edematous swelling/broadening of the soft tissue of the fingertips in all dimensions (distal phalanges of the fingers).
subclass of: HP_0011297
notation: HP:0001217

Autoamputation
tree view: HP_0040064
IAO_0000115: Spontaneous detachment (amputation) of an appendage from the body.
has db xref: UMLS:C1833222
has OBO namespace: human_phenotype
id: HP:0001218
type: Class
subclass of: HP_0040064
notation: HP:0001218

HP_0001219
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009839
type: Class
deprecated: true
notation: HP:0001219

Interphalangeal joint contracture of finger
tree view: HP_0012785
IAO_0000115: Chronic loss of joint motion in an interphalangeal joint of a finger due to structural changes in non-bony tissue.
has db xref: UMLS:C4021784
has exact synonym: Interphalangeal joint flexion contractures
has OBO namespace: human_phenotype
id: HP:0001220
type: Class
subclass of: HP_0012785
notation: HP:0001220

HP_0001221
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009882
type: Class
deprecated: true
notation: HP:0001221

Spatulate thumbs
tree view: HP_0011304
IAO_0000115: Spoon-shaped, broad thumbs.
has db xref: UMLS:C0241395
has exact synonym: Spoon shaped thumbs
has OBO namespace: human_phenotype
id: HP:0001222
type: Class
subclass of: HP_0011304
notation: HP:0001222

Pointed proximal second through fifth metacarpals
tree view: HP_0006119
IAO_0000115: All of the metacarpal bones of the hand have a pointed proximal appearance.
has db xref: UMLS:C1854787
has OBO namespace: human_phenotype
id: HP:0001223
type: Class
subclass of: HP_0006119
notation: HP:0001223

HP_0001224
IAO_0000231: IAO_0000227
IAO_0100001: Abnormality of the wrist
type: Class
deprecated: true
notation: HP:0001224

Wrist swelling
tree view: Abnormality of the wrist
has db xref: UMLS:C0241760
has exact synonym: Wrist swelling
has OBO namespace: human_phenotype
id: HP:0001225
type: Class
subclass of: Abnormality of the wrist
notation: HP:0001225

obsolete Acral ulceration and osteomyelitis leading to autoamputation of digits
IAO_0000231: IAO_0000227
IAO_0100001: HP_0006121
IAO_0100001: HP:0006121
has OBO namespace: human_phenotype
id: HP:0001226
type: Class
deprecated: true
notation: HP:0001226

Abnormality of the thenar eminence
tree view: Abnormality of the musculature of the hand
IAO_0000115: An abnormality of the thenar eminence, i.e., of the muscle on the palm of the human hand just beneath the thumb.
has db xref: UMLS:C4021783
has exact synonym: Thenar abnormality
has OBO namespace: human_phenotype
id: HP:0001227
type: Class
subclass of: Abnormality of the musculature of the hand
notation: HP:0001227

HP_0001228
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009883
type: Class
deprecated: true
notation: HP:0001228

HP_0001229
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009882
type: Class
deprecated: true
notation: HP:0001229

Broad metacarpals
tree view: HP_0005916
IAO_0000115: Abnormally broad metacarpal bones.
has alternative id: HP:0006024
has alternative id: HP:0006065
has db xref: UMLS:C1842229
has exact synonym: Wide long bones of hand
has exact synonym: Wide metacarpals
has OBO namespace: human_phenotype
id: HP:0001230
in subset: hposlim core
type: Class
subclass of: HP_0005916
notation: HP:0001230

Abnormal fingernail morphology
tree view: Abnormality of the nail
IAO_0000115: An abnormality of the fingernails.
has db xref: UMLS:C4021782
has exact synonym: Abnormal fingernails
has exact synonym: Abnormality of the fingernails
has OBO namespace: human_phenotype
id: HP:0001231
type: Class
subclass of: Abnormality of the nail
notation: HP:0001231

Nail bed telangiectasia
tree view: Telangiectasia
tree view: Abnormality of the nail
IAO_0000115: Telangiectases in the area of the nails.
has db xref: UMLS:C1838167
has exact synonym: Nail bed telangiectases
has OBO namespace: human_phenotype
id: HP:0001232
type: Class
subclass of: Telangiectasia
subclass of: Abnormality of the nail
notation: HP:0001232

2-3 finger syndactyly
tree view: HP_0006101
IAO_0000115: Syndactyly with fusion of fingers two and three.
has alternative id: HP:0006039
has alternative id: HP:0006122
has db xref: SNOMEDCT_US:205139009
has db xref: UMLS:C0432055
has exact synonym: Syndactyly 2nd-3rd fingers
has exact synonym: Syndactyly, 2-3 finger
has exact synonym: Webbed 2nd-3rd fingers
has OBO namespace: human_phenotype
id: HP:0001233
type: Class
subclass of: HP_0006101
notation: HP:0001233

Hitchhiker thumb
tree view: HP_0009466
tree view: HP_0009603
tree view: HP_0009617
IAO_0000115: With the hand relaxed and the thumb in the plane of the palm, the axis of the thumb forms an angle of at least 90 degrees with the long axis of the hand.
has db xref: UMLS:C1857269
has exact synonym: Abducted thumb
has exact synonym: Hitchhiker thumb
has OBO namespace: human_phenotype
id: HP:0001234
in subset: hposlim core
type: Class
comment: The condition known as "hitchhiker's thumb" means, that the distal phalanx of the thumb, when the thumb is extended (as in a "thumbs-up"), can extend backwards toward the nail and outwards at an angle of up to, or more than, 90 degrees from the thumb, whereas normally it will extend straight out with little backward bending.
subclass of: HP_0009466
subclass of: HP_0009603
subclass of: HP_0009617
notation: HP:0001234

HP_0001235
IAO_0000231: IAO_0000227
IAO_0100001: Prominent fingertip pads
type: Class
deprecated: true
notation: HP:0001235

HP_0001236
IAO_0000231: IAO_0000227
IAO_0100001: Syndactyly
type: Class
deprecated: true
notation: HP:0001236

HP_0001237
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009473
type: Class
deprecated: true
notation: HP:0001237

Slender finger
tree view: Abnormality of finger
IAO_0000115: Fingers that are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual.
has db xref: UMLS:C1857482
has exact synonym: Narrow fingers
has exact synonym: Slender finger
has exact synonym: Slender fingers
has exact synonym: thin fingers
has OBO namespace: human_phenotype
id: HP:0001238
in subset: hposlim core
type: Class
subclass of: Abnormality of finger
notation: HP:0001238

Wrist flexion contracture
tree view: Abnormality of the wrist
tree view: HP_0100360
IAO_0000115: A chronic loss of wrist joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the wrist.
has alternative id: HP:0006049
has alternative id: HP:0006137
has db xref: SNOMEDCT_US:202275008
has db xref: UMLS:C0409345
has exact synonym: Wrist contracture
has exact synonym: Wrist flexion deformity
has OBO namespace: human_phenotype
id: HP:0001239
type: Class
subclass of: Abnormality of the wrist
subclass of: HP_0100360
notation: HP:0001239

HP_0001240
IAO_0000231: IAO_0000227
IAO_0100001: HP_0011304
type: Class
deprecated: true
notation: HP:0001240

Capitate-hamate fusion
tree view: Abnormality of the hamate bone
tree view: Abnormality of the capitate bone
tree view: HP_0009702
has db xref: UMLS:C1857002
has exact synonym: Capitate-hamate fusions
has exact synonym: Fused capitate and hamate
has exact synonym: Fusion of capitate and hamate
has exact synonym: Fusion of hamate and capitate
has OBO namespace: human_phenotype
id: HP:0001241
type: Class
subclass of: Abnormality of the hamate bone
subclass of: Abnormality of the capitate bone
subclass of: HP_0009702
notation: HP:0001241

HP_0001242
IAO_0000231: IAO_0000227
IAO_0100001: HP_0010230
type: Class
deprecated: true
notation: HP:0001242

HP_0001243
IAO_0000231: IAO_0000227
IAO_0100001: Short middle phalanx of the 5th finger
type: Class
deprecated: true
notation: HP:0001243

HP_0001244
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009944
type: Class
deprecated: true
notation: HP:0001244

Small thenar eminence
tree view: Abnormality of the thenar eminence
IAO_0000115: Underdevelopment of the thenar eminence with reduced palmar soft tissue mass surrounding the base of the thumb.
has alternative id: HP:0006188
has db xref: UMLS:C1846474
has exact synonym: Decreased thenar eminence
has exact synonym: Hypoplastic thenar eminences
has exact synonym: Thenar hypoplasia
has exact synonym: Thenar muscle hypoplasia
has OBO namespace: human_phenotype
id: HP:0001245
in subset: hposlim core
type: Class
comment: The reduced soft tissue is typically abductor pollicis brevis and flexor pollicis brevis muscle bulk. Detection of this abnormality entails clinical judgment, especially in mild cases. The bulk of the muscle mass around the base of the thumb is diminished, and there may be a mild concavity over the volar aspect of the first metacarpal. When the deficiency is unilateral, comparison between the two hands will point up the often-subtle change in contour of the thenar muscles. If the degree of involvement is severe, the palm may taper in width proximally.
subclass of: Abnormality of the thenar eminence
notation: HP:0001245

HP_0001246
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009768
type: Class
deprecated: true
notation: HP:0001246

HP_0001247
IAO_0000231: IAO_0000227
IAO_0100001: Split hand
type: Class
deprecated: true
notation: HP:0001247

Short tubular bones of the hand
tree view: Abnormality of the hand
tree view: Short long bone
IAO_0000115: Decreased length of the tubular bones of the hand, that is, the phalanges and metacarpals.
has db xref: UMLS:C4025795
has exact synonym: Shortened short tubular bones of the hand
has OBO namespace: human_phenotype
id: HP:0001248
type: Class
subclass of: Abnormality of the hand
subclass of: Short long bone
notation: HP:0001248

Intellectual disability
tree view: HP_0012759
IAO_0000115: Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.
has alternative id: HP:0000730
has alternative id: HP:0001267
has alternative id: HP:0001286
has alternative id: HP:0002122
has alternative id: HP:0002192
has alternative id: HP:0002316
has alternative id: HP:0002382
has alternative id: HP:0002386
has alternative id: HP:0002402
has alternative id: HP:0002458
has alternative id: HP:0002482
has alternative id: HP:0002499
has alternative id: HP:0002543
has alternative id: HP:0003767
has alternative id: HP:0006833
has alternative id: HP:0006877
has alternative id: HP:0007154
has alternative id: HP:0007176
has alternative id: HP:0007180
has db xref: MSH:D008607
has db xref: SNOMEDCT_US:228156007
has db xref: SNOMEDCT_US:247578003
has db xref: SNOMEDCT_US:91138005
has db xref: UMLS:C0025362
has db xref: UMLS:C0423903
has db xref: UMLS:C0917816
has db xref: UMLS:C1843367
has db xref: UMLS:C3714756
has db xref: UMLS:C4020876
has exact synonym: Intellectual disability
has exact synonym: Mental deficiency
has exact synonym: Mental retardation
has exact synonym: Mental retardation, nonspecific
has exact synonym: Mental-retardation
has exact synonym: Nonprogressive intellectual disability
has exact synonym: Nonprogressive mental retardation
has OBO namespace: human_phenotype
has related synonym: Dull intelligence
has related synonym: Low intelligence
has related synonym: Poor school performance
id: HP:0001249
type: Class
comment: This term should be used for children at least five years old. For younger children, consider the term Global developmental delay (HP:0001263).
subclass of: HP_0012759
notation: HP:0001249

Seizures
tree view: HP_0012638
IAO_0000115: Seizures are an intermittent abnormality of the central nervous system due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements. The term epilepsy is used to describe chronic, recurrent seizures.
has alternative id: HP:0001275
has alternative id: HP:0001303
has alternative id: HP:0002125
has alternative id: HP:0002182
has alternative id: HP:0002279
has alternative id: HP:0002306
has alternative id: HP:0002348
has alternative id: HP:0002391
has alternative id: HP:0002417
has alternative id: HP:0002430
has alternative id: HP:0002431
has alternative id: HP:0002432
has alternative id: HP:0002434
has alternative id: HP:0002437
has alternative id: HP:0002466
has alternative id: HP:0002479
has alternative id: HP:0002794
has alternative id: HP:0006997
has alternative id: HP:0010520
has db xref: MSH:D004827
has db xref: MSH:D012640
has db xref: SNOMEDCT_US:128613002
has db xref: SNOMEDCT_US:246545002
has db xref: SNOMEDCT_US:313307000
has db xref: SNOMEDCT_US:84757009
has db xref: SNOMEDCT_US:91175000
has db xref: UMLS:C0014544
has db xref: UMLS:C0036572
has exact synonym: Seizure
has exact synonym: Seizures
has OBO namespace: human_phenotype
has related synonym: Epilepsy
id: HP:0001250
type: Class
comment: The term epilepsy is not used to describe recurrent febrile seizures. Epilepsy presumably reflects an abnormally reduced seizure threshold.
subclass of: HP_0012638
notation: HP:0001250

Ataxia
tree view: HP_0011443
IAO_0000115: Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- oder overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
has alternative id: HP:0001253
has alternative id: HP:0002513
has alternative id: HP:0007050
has alternative id: HP:0007157
has db xref: MSH:D002524
has db xref: SNOMEDCT_US:85102008
has db xref: UMLS:C0007758
has exact synonym: Cerebellar ataxia
has OBO namespace: human_phenotype
id: HP:0001251
type: Class
comment: Ataxia can be differentiated into dyssynergy, asynergy, dysmetria (hypometria, hypermetria), dysdiadochokinesis, gait ataxia, truncal ataxia, limb ataxia, and dysarthria). Note: This term does not include sensory ataxia.
subclass of: HP_0011443
notation: HP:0001251

Muscular hypotonia
tree view: Abnormal muscle tone
IAO_0000115: Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching.
has alternative id: HP:0001318
has db xref: MSH:D009123
has db xref: SNOMEDCT_US:398151007
has db xref: SNOMEDCT_US:398152000
has db xref: UMLS:C0026827
has exact synonym: Low or weak muscle tone
has exact synonym: Muscle hypotonia
has OBO namespace: human_phenotype
id: HP:0001252
type: Class
subclass of: Abnormal muscle tone
notation: HP:0001252

HP_0001253
IAO_0000231: IAO_0000227
IAO_0100001: Ataxia
type: Class
deprecated: true
notation: HP:0001253

Lethargy
tree view: Reduced consciousness/confusion
IAO_0000115: A state of disinterestedness, listlessness, and indifference, resulting in difficulty performing simple tasks or concentrating.
has db xref: MSH:D053609
has db xref: SNOMEDCT_US:214264003
has db xref: UMLS:C0023380
has exact synonym: Lethargy
has OBO namespace: human_phenotype
id: HP:0001254
type: Class
subclass of: Reduced consciousness/confusion
notation: HP:0001254

HP_0001255
IAO_0000231: IAO_0000227
IAO_0100001: Global developmental delay
type: Class
deprecated: true
notation: HP:0001255

Intellectual disability, mild
tree view: Intellectual disability
IAO_0000115: Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69.
has alternative id: HP:0006908
has alternative id: HP:0007119
has db xref: SNOMEDCT_US:86765009
has db xref: UMLS:C0026106
has exact synonym: Intellectual disability, mild
has exact synonym: Mental retardation, borderline-mild
has exact synonym: Mild and nonprogressive mental retardation
has exact synonym: Mild mental retardation
has OBO namespace: human_phenotype
has related synonym: Mental retardation, mild
id: HP:0001256
type: Class
subclass of: Intellectual disability
notation: HP:0001256

Spasticity
tree view: Hypertonia
IAO_0000115: A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.
has db xref: MSH:D009128
has db xref: SNOMEDCT_US:221360009
has db xref: SNOMEDCT_US:397790002
has db xref: UMLS:C0026838
has exact synonym: Involuntary muscle stiffness, contraction, or spasm
has exact synonym: Muscle spasticity
has exact synonym: Muscular spasticity
has OBO namespace: human_phenotype
id: HP:0001257
type: Class
subclass of: Hypertonia
notation: HP:0001257

Spastic paraplegia
tree view: Lower limb spasticity
tree view: HP_0010550
IAO_0000115: Spasticity and weakness of the leg and hip muscles.
has alternative id: HP:0007062
has alternative id: HP:0007124
has alternative id: HP:0007216
has db xref: MSH:D010264
has db xref: SNOMEDCT_US:192967009
has db xref: UMLS:C0037772
has exact synonym: Spastic paraplegia, lower limb
has OBO namespace: human_phenotype
id: HP:0001258
type: Class
comment: This phenotypic feature is a major component of the disease hereditary spastic paraplegia, which has multiple distinct genetic etiologies.
subclass of: Lower limb spasticity
subclass of: HP_0010550
notation: HP:0001258

Coma
tree view: Reduced consciousness/confusion
IAO_0000115: Complete absence of wakefulness and content of conscience, which manifests itself as a lack of response to any kind of external stimuli.
has db xref: ICD-10:R40.2
has db xref: MSH:D003128
has db xref: SNOMEDCT_US:371632003
has db xref: UMLS:C0009421
has exact synonym: Coma
has OBO namespace: human_phenotype
id: HP:0001259
type: Class
comment: Coma is generally a result of diffuse or extensive involvement of both hemispheres of the brain or lesions in the brainstem.
subclass of: Reduced consciousness/confusion
notation: HP:0001259

Dysarthria
tree view: Neurological speech impairment
IAO_0000115: Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.
has alternative id: HP:0002327
has db xref: MSH:D004401
has db xref: SNOMEDCT_US:8011004
has db xref: UMLS:C0013362
has exact synonym: Difficulty articulating speech
has exact synonym: Dysarthric speech
has OBO namespace: human_phenotype
id: HP:0001260
type: Class
subclass of: Neurological speech impairment
notation: HP:0001260

HP_0001261
IAO_0000231: IAO_0000227
IAO_0100001: HP_0006887
type: Class
deprecated: true
notation: HP:0001261

Excessive daytime somnolence
tree view: Sleep disturbance
tree view: Reduced consciousness/confusion
IAO_0000115: A state of abnormally strong desire for sleep during the daytime.
has db xref: SNOMEDCT_US:271782001
has db xref: SNOMEDCT_US:79519003
has db xref: UMLS:C2830004
has exact synonym: More than typical sleepiness during day
has OBO namespace: human_phenotype
id: HP:0001262
type: Class
subclass of: Sleep disturbance
subclass of: Reduced consciousness/confusion
notation: HP:0001262

Global developmental delay
tree view: HP_0012758
IAO_0000115: A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
has alternative id: HP:0000754
has alternative id: HP:0001255
has alternative id: HP:0001277
has alternative id: HP:0001292
has alternative id: HP:0002433
has alternative id: HP:0002473
has alternative id: HP:0002532
has alternative id: HP:0006793
has alternative id: HP:0006867
has alternative id: HP:0006885
has alternative id: HP:0006935
has alternative id: HP:0007005
has alternative id: HP:0007094
has alternative id: HP:0007106
has alternative id: HP:0007174
has alternative id: HP:0007224
has alternative id: HP:0007228
has alternative id: HP:0007342
has db xref: SNOMEDCT_US:224958001
has db xref: UMLS:C0557874
has db xref: UMLS:C1864897
has db xref: UMLS:C4020875
has exact synonym: Delayed cognitive development
has exact synonym: Delayed development
has exact synonym: Delayed developmental milestones
has exact synonym: Delayed intellectual development
has exact synonym: Delayed milestones
has exact synonym: Delayed psychomotor development
has exact synonym: Developmental delay
has exact synonym: Developmental delay in early childhood
has exact synonym: Developmental delay, global
has exact synonym: Developmental retardation
has exact synonym: Lack of psychomotor development
has exact synonym: Motor and developmental delay
has exact synonym: Psychomotor delay
has exact synonym: Psychomotor development deficiency
has exact synonym: Psychomotor development failure
has exact synonym: Psychomotor developmental delay
has exact synonym: Retarded development
has exact synonym: Retarded mental development
has exact synonym: Retarded psychomotor development
has OBO namespace: human_phenotype
has related synonym: Cognitive delay
has related synonym: Mental and motor retardation
id: HP:0001263
type: Class
comment: Developmental retardation is any significant lag in development in the any or all of the physical, cognitive, behavioral, emotional, or social spheres. Note that the term intellectual disability (mental retardation) refers to not merely a delay in development but rather a permanent limitation. Note that the term 'psychomotor retardation' is also used in some contexts to refer to a slowing of thought and physical movements as a result of major depression or intoxication.
subclass of: HP_0012758
notation: HP:0001263

Spastic diplegia
tree view: Spasticity
IAO_0000115: Spasticity (neuromuscular hypertonia) primarily in the muscles of the legs, hips, and pelvis.
has db xref: MSH:D002547
has db xref: SNOMEDCT_US:281411007
has db xref: UMLS:C0023882
has OBO namespace: human_phenotype
id: HP:0001264
type: Class
subclass of: Spasticity
notation: HP:0001264

Hyporeflexia
tree view: Reduced tendon reflexes
IAO_0000115: Reduction of neurologic reflexes such as the knee-jerk reaction.
has alternative id: HP:0002467
has db xref: SNOMEDCT_US:405946002
has db xref: UMLS:C0700078
has exact synonym: Decreased reflex response
has exact synonym: Decreased reflexes
has OBO namespace: human_phenotype
id: HP:0001265
type: Class
subclass of: Reduced tendon reflexes
notation: HP:0001265

Choreoathetosis
tree view: Chorea
IAO_0000115: Involuntary movements characterized by both athetosis (inability to sustain muscles in a fixed position) and chorea (widespread jerky arrhythmic movements).
has alternative id: HP:0002469
has alternative id: HP:0006811
has alternative id: HP:0007028
has alternative id: HP:0007337
has db xref: SNOMEDCT_US:43105007
has db xref: UMLS:C0085583
has db xref: UMLS:C0234967
has exact synonym: Choreoathetoid movements
has OBO namespace: human_phenotype
id: HP:0001266
type: Class
subclass of: Chorea
notation: HP:0001266

HP_0001267
IAO_0000231: IAO_0000227
IAO_0100001: Intellectual disability
type: Class
deprecated: true
notation: HP:0001267

Mental deterioration
tree view: HP_0100543
IAO_0000115: Loss of previously present mental abilities, generally in adults.
has alternative id: HP:0002303
has alternative id: HP:0006822
has alternative id: HP:0007155
has alternative id: HP:0007253
has alternative id: HP:0007264
has alternative id: HP:0007298
has db xref: MSH:D060825
has db xref: UMLS:C0234985
has exact synonym: Cognitive decline
has exact synonym: Cognitive decline, progressive
has exact synonym: Intellectual deterioration
has exact synonym: Mental deterioration
has exact synonym: Progressive cognitive decline
has OBO namespace: human_phenotype
id: HP:0001268
type: Class
subclass of: HP_0100543
notation: HP:0001268

Hemiparesis
tree view: Hemiplegia/hemiparesis
IAO_0000115: Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a complete loss of strength, whereas hemiparesis refers to an incomplete loss of strength.
has db xref: MSH:D010291
has db xref: SNOMEDCT_US:127377003
has db xref: SNOMEDCT_US:20022000
has db xref: UMLS:C0018989
has exact synonym: Weakness of one side of body
has OBO namespace: human_phenotype
id: HP:0001269
type: Class
subclass of: Hemiplegia/hemiparesis
notation: HP:0001269

Motor delay
tree view: HP_0012758
IAO_0000115: A type of Developmental delay characterized by a delay in acquiring motor skills.
has alternative id: HP:0001307
has alternative id: HP:0002130
has alternative id: HP:0006788
has alternative id: HP:0006826
has alternative id: HP:0006909
has alternative id: HP:0006950
has alternative id: HP:0006968
has alternative id: HP:0007219
has alternative id: HP:0007251
has db xref: UMLS:C1854301
has db xref: UMLS:C4020874
has exact synonym: Delay in motor development
has exact synonym: Delayed early motor milestones
has exact synonym: Delayed motor development
has exact synonym: Delayed motor milestones
has exact synonym: Locomotor delay
has exact synonym: Motor developmental delay
has exact synonym: Motor developmental milestones not achieved
has exact synonym: Motor retardation
has exact synonym: Retarded motor development
has OBO namespace: human_phenotype
has related synonym: No development of motor milestones
id: HP:0001270
type: Class
subclass of: HP_0012758
notation: HP:0001270

Polyneuropathy
tree view: HP_0009830
IAO_0000115: A generalized disorder of peripheral nerves.
has alternative id: HP:0006941
has alternative id: HP:0007287
has db xref: MSH:D010523
has db xref: MSH:D011115
has db xref: SNOMEDCT_US:302226006
has db xref: SNOMEDCT_US:42345000
has db xref: SNOMEDCT_US:42658009
has db xref: UMLS:C0031117
has db xref: UMLS:C0152025
has exact synonym: Peripheral nerve disease
has OBO namespace: human_phenotype
id: HP:0001271
type: Class
subclass of: HP_0009830
notation: HP:0001271

Cerebellar atrophy
tree view: Abnormal cerebellum morphology
IAO_0000115: Atrophy (wasting) of the cerebellum.
has alternative id: HP:0002364
has alternative id: HP:0006839
has alternative id: HP:0007072
has alternative id: HP:0007203
has db xref: SNOMEDCT_US:95646004
has db xref: UMLS:C0262404
has db xref: UMLS:C0740279
has db xref: UMLS:C4020873
has exact synonym: Degeneration of cerebellum
has OBO namespace: human_phenotype
has related synonym: Infratentorial atrophy
id: HP:0001272
type: Class
comment: Cerebellar atrophy can be diagnosed if the cerebellum is small with shrunken folia and large cerebellar fissures or if it has been shown to undergo progressive volume loss.
subclass of: Abnormal cerebellum morphology
notation: HP:0001272

Abnormal corpus callosum morphology
tree view: Abnormality of the cerebral white matter
IAO_0000115: Abnormality of the corpus callosum.
has alternative id: HP:0007323
has db xref: UMLS:C1842581
has exact synonym: Abnormal corpus callosum
has exact synonym: Abnormality of the corpus callosum
has exact synonym: Corpus callosum abnormality
has OBO namespace: human_phenotype
id: HP:0001273
type: Class
comment: The corpus callosum, a broad thick band of nerve fibers that connects the right and left cerebral hemispheres, is the largest white matter structure in the brain. This finding can be demonstrated by cerebral magenetic resonance tomography. The corpus callosum structurally consists of 4 major anatomic features including the rostrum, genu, corpus, and splenium.
subclass of: Abnormality of the cerebral white matter
notation: HP:0001273

Agenesis of corpus callosum
tree view: HP_0007370
IAO_0000115: Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline.
has alternative id: HP:0006800
has db xref: Fyler:4321
has db xref: MSH:D061085
has db xref: SNOMEDCT_US:5102002
has db xref: UMLS:C0175754
has exact synonym: Absence of corpus callosum
has exact synonym: Absent corpus callosum
has exact synonym: Agenesis of the corpus callosum
has exact synonym: Callosal agenesis
has exact synonym: Corpus callosum agenesis
has exact synonym: Dysplastic or absent corpus callosum
has OBO namespace: human_phenotype
id: HP:0001274
type: Class
subclass of: HP_0007370
notation: HP:0001274

HP_0001275
IAO_0000231: IAO_0000227
IAO_0100001: Seizures
type: Class
deprecated: true
notation: HP:0001275

Hypertonia
tree view: Upper motor neuron dysfunction
tree view: Abnormal muscle tone
IAO_0000115: A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.
has alternative id: HP:0002388
has db xref: MSH:D009122
has db xref: SNOMEDCT_US:41581000
has db xref: SNOMEDCT_US:56731001
has db xref: UMLS:C0026826
has exact synonym: Hypertonicity
has exact synonym: Increased muscle tone
has narrow synonym: Spasticity and rigidity of muscles
has OBO namespace: human_phenotype
has related synonym: Muscle hypertonia
id: HP:0001276
type: Class
comment: Spasticity is a term that is often used interchangeably with hypertonia. Spasticity, however, is a particular type of hypertonia in which the muscles' spasms are increased by movement. In this type, patients usually have exaggerated reflex responses.
subclass of: Upper motor neuron dysfunction
subclass of: Abnormal muscle tone
notation: HP:0001276

HP_0001277
IAO_0000231: IAO_0000227
IAO_0100001: Global developmental delay
type: Class
deprecated: true
notation: HP:0001277

Orthostatic hypotension
tree view: Hypotension
tree view: HP_0012332
IAO_0000115: A form of hypotension characterized by a sudden fall in blood pressure that occurs when a person assumes a standing position.
has alternative id: HP:0004932
has alternative id: HP:0006700
has db xref: MSH:D007024
has db xref: SNOMEDCT_US:28651003
has db xref: UMLS:C0020651
has exact synonym: Decrease in blood pressure upon standing up
has exact synonym: Postural hypotension
has OBO namespace: human_phenotype
id: HP:0001278
type: Class
subclass of: Hypotension
subclass of: HP_0012332
notation: HP:0001278

Syncope
tree view: HP_0011025
IAO_0000115: Syncope refers to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow.
created by: peter
creation date: 2008-02-25T10:37:00Z
has db xref: MSH:D013575
has db xref: SNOMEDCT_US:271594007
has db xref: SNOMEDCT_US:272030005
has db xref: SNOMEDCT_US:309585006
has db xref: UMLS:C0039070
has exact synonym: Fainting spell
has OBO namespace: human_phenotype
id: HP:0001279
type: Class
subclass of: HP_0011025
notation: HP:0001279

HP_0001280
IAO_0000231: IAO_0000227
IAO_0100001: Spastic tetraplegia
type: Class
deprecated: true
notation: HP:0001280

Tetany
tree view: HP_0011804
IAO_0000115: A condition characterized by intermittent involuntary contraction of muscles (spasms) related to hypocalcemia or occasionally magneisum deficiency.
has db xref: MSH:D013746
has db xref: SNOMEDCT_US:10629009
has db xref: UMLS:C0039621
has exact synonym: Intermittent involuntary muscle spasm
has OBO namespace: human_phenotype
id: HP:0001281
type: Class
subclass of: HP_0011804
notation: HP:0001281

HP_0001282
IAO_0000231: IAO_0000227
IAO_0100001: Hyperreflexia
type: Class
deprecated: true
notation: HP:0001282

Bulbar palsy
tree view: Muscle weakness
tree view: HP_0012638
IAO_0000115: Bulbar weakness (or bulbar palsy) refers to bilateral impairment of function of the lower cranial nerves IX, X, XI and XII, which occurs due to lower motor neuron lesion either at nuclear or fascicular level in the medulla or from bilateral lesions of the lower cranial nerves outside the brain-stem. Bulbar weakness is often associated with difficulty in chewing, weakness of the facial muscles, dysarthria, palatal weakness and regurgitation of fluids, dysphagia, and dysphonia.
has alternative id: HP:0003441
has alternative id: HP:0003709
has db xref: MSH:D010244
has db xref: SNOMEDCT_US:398432008
has db xref: UMLS:C1301959
has db xref: UMLS:C4082299
has exact synonym: Bulbar muscle weakness
has exact synonym: Bulbar palsies
has exact synonym: Bulbar weakness
has OBO namespace: human_phenotype
id: HP:0001283
type: Class
subclass of: Muscle weakness
subclass of: HP_0012638
notation: HP:0001283

Areflexia
tree view: Reduced tendon reflexes
IAO_0000115: Absence of neurologic reflexes such as the knee-jerk reaction.
has alternative id: HP:0001314
has broad synonym: Absent reflexes
has db xref: MSH:D012021
has db xref: SNOMEDCT_US:349006
has db xref: SNOMEDCT_US:37280007
has db xref: UMLS:C0234146
has db xref: UMLS:C0241772
has db xref: UMLS:C0278124
has exact synonym: Absent deep tendon reflexes
has exact synonym: Absent tendon reflexes
has exact synonym: Deep tendon reflexes absent
has exact synonym: Loss of deep tendon reflexes
has OBO namespace: human_phenotype
id: HP:0001284
type: Class
comment: The strectch reflexes (also called deep tendon relfexes) include the knee-jerk reflex (patellar reflex, the biceps reflex, the triceps reflex, and the ankle jerk reflex or Achilles tendon reflex).
subclass of: Reduced tendon reflexes
notation: HP:0001284

Spastic tetraparesis
tree view: Spasticity
IAO_0000115: Spastic weakness affecting all four limbs.
has alternative id: HP:0002393
has db xref: SNOMEDCT_US:298282001
has db xref: UMLS:C0575059
has exact synonym: Spastic quadriparesis
has OBO namespace: human_phenotype
id: HP:0001285
type: Class
subclass of: Spasticity
notation: HP:0001285

HP_0001286
IAO_0000231: IAO_0000227
IAO_0100001: Intellectual disability
type: Class
deprecated: true
notation: HP:0001286

Meningitis
tree view: HP_0011450
IAO_0000115: Inflammation of the meninges.
has db xref: MSH:D008581
has db xref: SNOMEDCT_US:7180009
has db xref: UMLS:C0025289
has OBO namespace: human_phenotype
id: HP:0001287
type: Class
subclass of: HP_0011450
notation: HP:0001287

Gait disturbance
tree view: HP_0100022
IAO_0000115: The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease.
has alternative id: HP:0006953
has db xref: SNOMEDCT_US:22325002
has db xref: UMLS:C0575081
has exact synonym: Abnormal gait
has exact synonym: Abnormal walk
has exact synonym: Gait abnormalities
has exact synonym: Gait difficulties
has exact synonym: Gait disturbances
has exact synonym: Impaired gait
has OBO namespace: human_phenotype
id: HP:0001288
type: Class
comment: If possible, this term should not be used for new annotations. Rather, a more specific term should be sought.
subclass of: HP_0100022
notation: HP:0001288

Confusion
tree view: Reduced consciousness/confusion
IAO_0000115: Lack of clarity and coherence of thought, perception, understanding, or action.
has alternative id: HP:0000731
has db xref: MSH:D003221
has db xref: SNOMEDCT_US:286933003
has db xref: UMLS:C0009676
has exact synonym: Confusion
has exact synonym: Disorientation
has exact synonym: Easily confused
has exact synonym: Mental disorientation
has OBO namespace: human_phenotype
id: HP:0001289
type: Class
subclass of: Reduced consciousness/confusion
notation: HP:0001289

Generalized hypotonia
tree view: Muscular hypotonia
IAO_0000115: Generalized muscular hypotonia (abnormally low muscle tone).
has broad synonym: Hypotonia
has db xref: UMLS:C1858120
has exact synonym: Decreased muscle tone
has exact synonym: Generalized muscular hypotonia
has exact synonym: Hypotonia, generalized
has exact synonym: Low muscle tone
has OBO namespace: human_phenotype
id: HP:0001290
type: Class
subclass of: Muscular hypotonia
notation: HP:0001290

Abnormal cranial nerve morphology
tree view: Abnormal peripheral nervous system morphology
IAO_0000115: Structural abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem.
has alternative id: HP:0003480
has db xref: UMLS:C1854510
has db xref: UMLS:C4020872
has exact synonym: Abnormality of cranial nerve
has exact synonym: Abnormality of the cranial nerves
has exact synonym: Cranial nerve disease
has exact synonym: Cranial nerve involvement
has OBO namespace: human_phenotype
has related synonym: Cranial nerve abnormality
id: HP:0001291
type: Class
subclass of: Abnormal peripheral nervous system morphology
notation: HP:0001291

HP_0001292
IAO_0000231: IAO_0000227
IAO_0100001: Global developmental delay
type: Class
deprecated: true
notation: HP:0001292

Cranial nerve compression
tree view: Abnormal cranial nerve morphology
has db xref: SNOMEDCT_US:95664006
has db xref: UMLS:C0521670
has OBO namespace: human_phenotype
id: HP:0001293
type: Class
subclass of: Abnormal cranial nerve morphology
notation: HP:0001293

HP_0001294
IAO_0000231: IAO_0000227
IAO_0100001: HP_0100022
type: Class
deprecated: true
notation: HP:0001294

HP_0001295
IAO_0000231: IAO_0000227
IAO_0100001: Tremor
type: Class
deprecated: true
notation: HP:0001295

HP_0001296
IAO_0000231: IAO_0000227
IAO_0100001: HP_0100852
type: Class
deprecated: true
notation: HP:0001296

Stroke
tree view: HP_0100659
IAO_0000115: Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain.
has alternative id: HP:0002452
has db xref: MSH:D020521
has db xref: SNOMEDCT_US:230690007
has db xref: UMLS:C0038454
has exact synonym: Cerebral vascular events
has exact synonym: Cerebrovascular accident
has exact synonym: Stroke
has OBO namespace: human_phenotype
has related synonym: Cerebrovascular accidents
id: HP:0001297
type: Class
subclass of: HP_0100659
notation: HP:0001297

Encephalopathy
tree view: HP_0012638
IAO_0000115: Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state.
has db xref: MSH:D001927
has db xref: SNOMEDCT_US:81308009
has db xref: UMLS:C0085584
has OBO namespace: human_phenotype
id: HP:0001298
type: Class
comment: This term and its children are general and bundled terms that are kept for convenience. For new annotations, it is recommended that the specific phenotypic abnormalities be noted.
subclass of: HP_0012638
notation: HP:0001298

HP_0001299
IAO_0000231: IAO_0000227
IAO_0100001: Skeletal muscle atrophy
type: Class
deprecated: true
notation: HP:0001299

Parkinsonism
tree view: Abnormality of extrapyramidal motor function
IAO_0000115: Characteristic neurologic anomaly resulting form degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait.
has db xref: MSH:D020734
has db xref: SNOMEDCT_US:32798002
has db xref: UMLS:C0242422
has OBO namespace: human_phenotype
has related synonym: Parkinsonian disease
id: HP:0001300
type: Class
subclass of: Abnormality of extrapyramidal motor function
notation: HP:0001300

Chronic sensorineural polyneuropathy
tree view: HP_0009830
has db xref: UMLS:C4025794
has OBO namespace: human_phenotype
id: HP:0001301
type: Class
subclass of: HP_0009830
notation: HP:0001301

Pachygyria
tree view: Lissencephaly
IAO_0000115: Pachygyria is a malformation of cortical development with abnormally wide gyri with sulci 1,5-3 cm apart and abnormally thick cortex measuring more than 5 mm (radiological definition). See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly.
has db xref: MSH:D054082
has db xref: SNOMEDCT_US:23024003
has db xref: UMLS:C0266483
has exact synonym: Cerebral pachygyria
has exact synonym: Fewer and broader ridges in brain
has OBO namespace: human_phenotype
id: HP:0001302
type: Class
subclass of: Lissencephaly
notation: HP:0001302

HP_0001303
IAO_0000231: IAO_0000227
IAO_0100001: Seizures
type: Class
deprecated: true
notation: HP:0001303

Torsion dystonia
tree view: Dystonia
IAO_0000115: Sustained involuntary muscle contractions that produce twisting and repetitive movements of the body.
has db xref: MSH:D004422
has db xref: SNOMEDCT_US:22451001
has db xref: SNOMEDCT_US:431034009
has db xref: UMLS:C0013423
has exact synonym: Dystonia musculorum deformans
has OBO namespace: human_phenotype
id: HP:0001304
type: Class
subclass of: Dystonia
notation: HP:0001304

Dandy-Walker malformation
tree view: Cerebellar vermis hypoplasia
tree view: Dilated fourth ventricle
tree view: Cerebellar cyst
tree view: HP_0005445
IAO_0000115: A congenital brain malformation typically characterized by incomplete formation of the cerebellar vermis, dilation of the fourth ventricle, and enlargement of the posterior fossa. In layman's terms, Dandy Walker malformation is a cyst in the cerebellum (typically symmetrical) that is involved with the fourth ventricle. This may interfere with the ability to drain cerebrospinal fluid from the brain, resulting in hydrocephalus. Dandy Walker cysts are formed during early embryonic development, while the brain forms. The cyst in the cerebellum typically has several blood vessels running through it connecting to the brain, thereby prohibiting surgical removal.
has alternative id: HP:0001313
has alternative id: HP:0006809
has db xref: MSH:D003616
has db xref: SNOMEDCT_US:14447001
has db xref: UMLS:C0010964
has exact synonym: Dandy-Walker cyst
has exact synonym: Dandy-walker anomaly
has OBO namespace: human_phenotype
id: HP:0001305
type: Class
subclass of: Cerebellar vermis hypoplasia
subclass of: Dilated fourth ventricle
subclass of: Cerebellar cyst
subclass of: HP_0005445
notation: HP:0001305

HP_0001306
IAO_0000231: IAO_0000227
IAO_0100001: Generalized tonic-clonic seizures
type: Class
deprecated: true
notation: HP:0001306

HP_0001307
IAO_0000231: IAO_0000227
IAO_0100001: Motor delay
type: Class
deprecated: true
notation: HP:0001307

Tongue fasciculations
tree view: Fasciculations
tree view: HP_0010546
tree view: HP_0030810
IAO_0000115: Fasciculations or fibrillation affecting the tongue muscle.
has alternative id: HP:0003727
has db xref: MSH:D005207
has db xref: SNOMEDCT_US:249878001
has db xref: UMLS:C0239548
has exact synonym: Lingual fasciculations
has exact synonym: Lingual fibrillations
has exact synonym: Lingual twitching
has exact synonym: Tongue fasciculation
has exact synonym: Tongue fasciculations/fibrillations
has exact synonym: Tongue twitching
has exact synonym: Twitching of the tongue
has OBO namespace: human_phenotype
id: HP:0001308
type: Class
subclass of: Fasciculations
subclass of: HP_0010546
subclass of: HP_0030810
notation: HP:0001308

HP_0001309
IAO_0000231: IAO_0000227
IAO_0100001: Tremor
type: Class
deprecated: true
notation: HP:0001309

Dysmetria
tree view: Ataxia
IAO_0000115: A type of ataxia characterized by the inability to carry out movements with the correct range and motion across the plane of more than one joint related to incorrect estimation of the distances required for targeted movements.
has db xref: MSH:D002524
has db xref: SNOMEDCT_US:32566006
has db xref: UMLS:C0234162
has exact synonym: Lack of coordination of movement
has OBO namespace: human_phenotype
has related synonym: Abnormal finger chase test
has related synonym: Abnormal finger-nose-finger test
id: HP:0001310
type: Class
comment: Dysmetria can result in moving beyond the target (hypermetria) or failing to reach the target (hypometria) during a voluntary movement. Dysmetria can be assessed clinically by the finger chase test, whereby the examiner and the proband are sitting, and the examiner suddenly moves his or her finger five times in an unpredictable direction in a frontal plane, with movements having an amplitude of about 30 cm and a frequency of once every two seconds. The proband is asked to follow the movements with his or her index finger. The test is abnormal if the proband substantially under- or overshoots or cannot perform pointing movements at all. The finger-nose-finger test is similar, and the proband is asked to alternately touch his or her own nose and then to point to the finger of the examiner.
subclass of: Ataxia
notation: HP:0001310

Abnormal nervous system electrophysiology
tree view: HP_0012638
IAO_0000115: An abnormality of the function of the electrical signals with which nerve cells communicate with each other or with muscles as measured by electrophysiological investigations.
has alternative id: HP:0002531
has alternative id: HP:0003129
has db xref: UMLS:C4021781
has exact synonym: Neurophysiologic abnormalities
has exact synonym: Neurophysiologic abnormality
has OBO namespace: human_phenotype
id: HP:0001311
type: Class
subclass of: HP_0012638
notation: HP:0001311

Giant somatosensory evoked potentials
tree view: HP_0007377
IAO_0000115: An abnormal enlargement (i.e. increase in measured voltage) of somatosensory evoked potentials.
has db xref: UMLS:C3806961
has exact synonym: Giant SEPS
has OBO namespace: human_phenotype
id: HP:0001312
type: Class
subclass of: HP_0007377
notation: HP:0001312

HP_0001313
IAO_0000231: IAO_0000227
IAO_0100001: Dandy-Walker malformation
type: Class
deprecated: true
notation: HP:0001313

HP_0001314
IAO_0000231: IAO_0000227
IAO_0100001: Areflexia
type: Class
deprecated: true
notation: HP:0001314

Reduced tendon reflexes
tree view: HP_0031826
IAO_0000115: Diminution of tendon reflexes, which is an invariable sign of peripheral nerve disease.
has alternative id: HP:0001316
has db xref: UMLS:C1866934
has exact synonym: Absent or decreased deep tendon reflexes
has exact synonym: Decreased deep tendon reflexes
has exact synonym: Decreased tendon reflexes
has exact synonym: Decreased to absent deep tendon reflexes
has exact synonym: Decreased/absent deep tendon reflexes
has exact synonym: Depressed tendon reflexes
has exact synonym: Diminished deep tendon reflexes
has exact synonym: Diminished or absent deep tendon reflexes
has exact synonym: Diminished or absent tendon reflexes
has exact synonym: Hypoactive to absent deep tendon reflexes
has exact synonym: Impaired tendon reflexes
has exact synonym: Reduced/absent deep tendon reflexes
has exact synonym: Weak or absent deep tendon reflexes
has OBO namespace: human_phenotype
id: HP:0001315
type: Class
comment: The deep tendon reflex is a monosynaptic reflex arc with sensory and motor nerve components, but the arc is much more vulnerable to sensory nerve damage. Ankle plantar flexion is retained in all but the most severe peripheral neuropathies, and thus loss of the Achilles tendon reflex in an objective indication of a substantial sensory nerve defect.
subclass of: HP_0031826
notation: HP:0001315

HP_0001316
IAO_0000231: IAO_0000227
IAO_0100001: Reduced tendon reflexes
type: Class
deprecated: true
notation: HP:0001316

Abnormal cerebellum morphology
tree view: HP_0011283
IAO_0000115: Any structural abnormality of the cerebellum.
has db xref: UMLS:C0742038
has db xref: UMLS:C1866129
has exact synonym: Abnormality of the cerebellum
has exact synonym: Cerebellar abnormalities
has exact synonym: Cerebellar abnormality
has exact synonym: Cerebellar anomaly
has exact synonym: Cerebellar signs
has OBO namespace: human_phenotype
id: HP:0001317
type: Class
subclass of: HP_0011283
notation: HP:0001317

HP_0001318
IAO_0000231: IAO_0000227
IAO_0100001: Muscular hypotonia
type: Class
deprecated: true
notation: HP:0001318

Neonatal hypotonia
tree view: Muscular hypotonia
IAO_0000115: Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period.
has alternative id: HP:0006830
has alternative id: HP:0008976
has db xref: MSH:D009123
has db xref: SNOMEDCT_US:205294008
has db xref: UMLS:C2267233
has exact synonym: Hypotonia, in neonatal onset
has exact synonym: Hypotonia, neonatal
has exact synonym: Low muscle tone, in neonatal onset
has OBO namespace: human_phenotype
has related synonym: Congenital hypotonia
id: HP:0001319
type: Class
subclass of: Muscular hypotonia
notation: HP:0001319

Cerebellar vermis hypoplasia
tree view: HP_0006817
IAO_0000115: Underdevelopment of the vermis of cerebellum.
has db xref: UMLS:C1840379
has exact synonym: Cerebellar vermal hypoplasia
has exact synonym: Hypoplasia of the cerebellar vermis
has exact synonym: Hypoplastic cerebellar vermis
has OBO namespace: human_phenotype
id: HP:0001320
type: Class
subclass of: HP_0006817
notation: HP:0001320

Cerebellar hypoplasia
tree view: HP_0007360
IAO_0000115: Underdevelopment of the cerebellum.
has alternative id: HP:0006806
has alternative id: HP:0006910
has alternative id: HP:0007038
has alternative id: HP:0007053
has db xref: MSH:C562568
has db xref: SNOMEDCT_US:16026008
has db xref: UMLS:C0266470
has exact synonym: Congenital cerebellar hypoplasia
has exact synonym: Hypoplasia of cerebellum
has exact synonym: Hypoplastic cerebellum
has exact synonym: Small cerebellum
has exact synonym: Underdeveloped cerebellum
has OBO namespace: human_phenotype
id: HP:0001321
type: Class
comment: By prenatal ultrasound, cerebellar hypoplasia is diagnosed if the cerebellum measures more than two standard deviations below the mean. In adults, cerebellar hypoplasia is typically diagnosed by computer tomography or magnetic resonance imaging. Cerebellar hypoplasia can be diagnosed if there is a small cerebellum with fissures of normal size compared with the folia (this is a distinguishing characteristic compared with cerebellar atrophy).
subclass of: HP_0007360
notation: HP:0001321

obsolete Brain very small
IAO_0000231: IAO_0000227
IAO_0100001: HP_0006872
IAO_0100001: HP:0006872
has OBO namespace: human_phenotype
id: HP:0001322
type: Class
deprecated: true
notation: HP:0001322

HP_0001323
IAO_0000231: IAO_0000227
IAO_0100001: Aplasia/Hypoplasia involving the central nervous system
type: Class
deprecated: true
notation: HP:0001323

Muscle weakness
tree view: HP_0011804
IAO_0000115: Reduced strength of muscles.
has alternative id: HP:0002309
has alternative id: HP:0008979
has alternative id: HP:0009012
has alternative id: HP:0009061
has db xref: MSH:D018908
has db xref: SNOMEDCT_US:26544005
has db xref: UMLS:C0151786
has exact synonym: Muscle weakness
has exact synonym: Muscular weakness
has OBO namespace: human_phenotype
id: HP:0001324
type: Class
comment: It is important clinical to distinguish between muscle weakness, fatigue, and asthenia. Fatigue describes the inability to continue performing a task after multiple repetitions; in contrast, a patient with primary weakness is unable to perform the first repetition of the task. Asthenia is a sense of weariness or exhaustion in the absence of muscle weakness. Conditions that result in intrinsic muscle weakness can be divided into several main categories: infectious, neurologic, endocrine, inflammatory, rheumatologic, genetic, metabolic, electrolyte-induced, or drug-induced.
subclass of: HP_0011804
notation: HP:0001324

Hypoglycemic coma
tree view: Coma
has db xref: SNOMEDCT_US:267384006
has db xref: UMLS:C0020617
has exact synonym: Coma caused by low blood sugar
has exact synonym: Coma, hypoglycemic
has exact synonym: Hypoglycaemic coma
has exact synonym: Loss of consciousness due to hypoglycemia
has OBO namespace: human_phenotype
id: HP:0001325
type: Class
subclass of: Coma
notation: HP:0001325

EEG with irregular generalized spike and wave complexes
tree view: HP_0010850
IAO_0000115: EEG shows spikes (<80 ms) and waves, which are recorded over the entire scalp and do not have a specific frequency.
has db xref: UMLS:C4025792
has OBO namespace: human_phenotype
id: HP:0001326
type: Class
subclass of: HP_0010850
notation: HP:0001326

Photomyoclonic seizures
tree view: Generalized myoclonic seizures
has db xref: UMLS:C4025791
has OBO namespace: human_phenotype
id: HP:0001327
type: Class
subclass of: Generalized myoclonic seizures
notation: HP:0001327

Specific learning disability
tree view: HP_0012759
IAO_0000115: Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence.
has alternative id: HP:0007234
has db xref: UMLS:C4025790
has OBO namespace: human_phenotype
id: HP:0001328
type: Class
comment: The term learning disability is used with different meanings in different contexts. Significant impairments of mental functioning with a reduction in IQ below 70 should be coded as mental retardation.
subclass of: HP_0012759
notation: HP:0001328

HP_0001329
IAO_0000231: IAO_0000227
IAO_0100001: Progressive cerebellar ataxia
type: Class
deprecated: true
notation: HP:0001329

HP_0001330
IAO_0000231: IAO_0000227
IAO_0100001: HP_0010852
type: Class
deprecated: true
notation: HP:0001330

Absent septum pellucidum
tree view: HP_0007375
IAO_0000115: Absence of the septum pellucidum.
has alternative id: HP:0006969
has db xref: MSH:C535562
has db xref: SNOMEDCT_US:253143001
has db xref: UMLS:C0431371
has exact synonym: Absence of septum pellucidum
has exact synonym: Absence of the septum pellucidum
has exact synonym: Agenesis of the septum pellucidum
has exact synonym: Missing septum pellucidum
has OBO namespace: human_phenotype
id: HP:0001331
type: Class
comment: TODO: Bundled term. Revise annotations and split this term.
subclass of: HP_0007375
notation: HP:0001331

Dystonia
tree view: HP_0100022
IAO_0000115: An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.
has alternative id: HP:0002328
has db xref: MSH:D004421
has db xref: UMLS:C0013421
has db xref: UMLS:C4020871
has exact synonym: Dystonic movements
has OBO namespace: human_phenotype
has related synonym: Dystonic disease
id: HP:0001332
type: Class
subclass of: HP_0100022
notation: HP:0001332

HP_0001333
IAO_0000231: IAO_0000227
IAO_0100001: Abnormality of the nervous system
type: Class
deprecated: true
notation: HP:0001333

Communicating hydrocephalus
tree view: Hydrocephalus
IAO_0000115: A form of hydrocephalus in which there is no visible obstruction to the flow of the cerebrospinal fluid between the ventricles and subarachnoid space.
has db xref: MSH:D006849
has db xref: SNOMEDCT_US:271569006
has db xref: UMLS:C0009451
has OBO namespace: human_phenotype
id: HP:0001334
type: Class
comment: Communicating hydrocephalus may be caused by overproduction of CSF, defective absorption of CSF (the most common cause) or venous drainage insufficiency.
subclass of: Hydrocephalus
notation: HP:0001334

Bimanual synkinesia
tree view: HP_0100022
IAO_0000115: Mirror hand movements.
has db xref: SNOMEDCT_US:229247004
has db xref: UMLS:C0454455
has exact synonym: Hand mirror movements
has exact synonym: Mirror hand movements
has exact synonym: Mirror movements
has OBO namespace: human_phenotype
id: HP:0001335
type: Class
subclass of: HP_0100022
notation: HP:0001335

Myoclonus
tree view: Involuntary movements
IAO_0000115: Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.
has alternative id: HP:0002535
has alternative id: HP:0007087
has broad synonym: Jerking
has db xref: MSH:D009207
has db xref: SNOMEDCT_US:127324008
has db xref: SNOMEDCT_US:17450006
has db xref: UMLS:C0027066
has db xref: UMLS:C1854302
has exact synonym: Myoclonic jerks
has OBO namespace: human_phenotype
has related synonym: Involuntary jerking movements
id: HP:0001336
type: Class
comment: Myoclonus may be synchronous (several muscle contracting simultaneously), spreading (several muscles contracting in sequence), or asynchronous (several muscles contracting with varying and unpredictable relative timing). Myoclonus is characterized by sudden unidirectional movement due to muscle contraction (positive myoclonus) or due to sudden brief muscle relaxtion (negative myoclonus).
subclass of: Involuntary movements
notation: HP:0001336

Tremor
tree view: Involuntary movements
IAO_0000115: An unintentional, oscillating to-and-fro muscle movement about a joint axis.
has alternative id: HP:0001295
has alternative id: HP:0001309
has db xref: MSH:D014202
has db xref: SNOMEDCT_US:26079004
has db xref: UMLS:C0040822
has exact synonym: Tremor
has exact synonym: Tremors
has OBO namespace: human_phenotype
id: HP:0001337
type: Class
comment: Tremor is differentiated from other involuntary movement disorders, such as chorea, athetosis, ballism, tics, and myoclonus, by its repetitive, stereotyped movements of a regular amplitude and frequency. Clonus, unlike tremor, represents a rhythmic movement, which is increased by muscle stretching.
subclass of: Involuntary movements
notation: HP:0001337

Partial agenesis of the corpus callosum
tree view: Agenesis of corpus callosum
IAO_0000115: A partial failure of the development of the corpus callosum.
has alternative id: HP:0006982
has alternative id: HP:0007090
has alternative id: HP:0007128
has db xref: MSH:C536111
has db xref: SNOMEDCT_US:253140003
has db xref: UMLS:C0431368
has db xref: UMLS:C1857278
has exact synonym: Corpus callosum agenesis, partial
has exact synonym: Partial agenesis of corpus callosum
has exact synonym: Partial corpus callosum agenesis
has exact synonym: Partial or complete agenesis of corpus callosum
has exact synonym: Partial to complete agenesis of corpus callosum
has exact synonym: Partial-total agenesis of corpus callosum
has OBO namespace: human_phenotype
has related synonym: Partial or complete agenesis of the corpus callosum
id: HP:0001338
type: Class
subclass of: Agenesis of corpus callosum
notation: HP:0001338

Lissencephaly
tree view: Abnormal cortical gyration
IAO_0000115: A spectrum of malformations of cortical development caused by insufficient neuronal migration that subsumes the terms agyria, pachygyria and subcortical band heterotopia. See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly.
has alternative id: HP:0002537
has db xref: MSH:D054082
has db xref: SNOMEDCT_US:204036008
has db xref: UMLS:C0266463
has db xref: UMLS:C1879312
has exact synonym: Fewer or absent grooves in brain
has OBO namespace: human_phenotype
id: HP:0001339
type: Class
comment: Lissencephaly (LIS, which subsumes the terms agyria and pachygyria), together with subcortical-band heterotopia (SBH) comprises a spectrum of malformations of cortical development caused by insufficient neuronal migration. The key features of LIS are an abnormally thick cortex with reduced or absent formation of the cerebral convolutions, while SBH consists of abnormal bands of neurons beneath a normal cortex, although the cerebral gyri may be separated by unusually shallow sulci.
subclass of: Abnormal cortical gyration
notation: HP:0001339

Enhancement of the C-reflex
tree view: HP_0007377
IAO_0000115: Increase in amplitude of a long-loop response upon somatosensory evoked potential testing, representing an electrically evoked myoclonic response.
has db xref: UMLS:C3552824
has OBO namespace: human_phenotype
id: HP:0001340
type: Class
subclass of: HP_0007377
notation: HP:0001340

Olfactory lobe agenesis
tree view: HP_0025057
has db xref: UMLS:C1855331
has exact synonym: Olfactory lobe absence
has OBO namespace: human_phenotype
id: HP:0001341
type: Class
subclass of: HP_0025057
notation: HP:0001341

Cerebral hemorrhage
tree view: Intracranial hemorrhage
IAO_0000115: Hemorrhage into the parenchyma of the brain.
has alternative id: HP:0002137
has db xref: MSH:D002543
has db xref: MSH:D020300
has db xref: SNOMEDCT_US:230706003
has db xref: SNOMEDCT_US:274100004
has db xref: UMLS:C0553692
has db xref: UMLS:C2937358
has exact synonym: Bleeding in brain
has exact synonym: Intracerebral hemorrhage
has OBO namespace: human_phenotype
has related synonym: Hemorrhagic stroke
id: HP:0001342
type: Class
comment: A cerebral hemorrhage (or intracerebral hemorrhage, ICH), is a type of intracranial hemorrhage that occurs within the brain tissue itself.
subclass of: Intracranial hemorrhage
notation: HP:0001342

Kernicterus
tree view: HP_0012443
IAO_0000115: Damage to cerebral nuclei caused in infants by highly increased levels of unconjugated bilirubin. The basal ganglia and brainstem nuclei could be shown to have a yellow staining historically in infants who died of kernicterus, that is, kernicterus is strictly speaking a pathological diagnosis. The presence of kernicterus may be inferred in infants with characteristic acute or chronic bilirubin-induced neurological dysfunction.
has db xref: MSH:D007647
has db xref: SNOMEDCT_US:50143004
has db xref: SNOMEDCT_US:74925009
has db xref: UMLS:C0022610
has OBO namespace: human_phenotype
id: HP:0001343
type: Class
subclass of: HP_0012443
notation: HP:0001343

Absent speech
tree view: Delayed speech and language development
tree view: Neurological speech impairment
IAO_0000115: Complete lack of development of speech and language abilities.
has alternative id: HP:0001617
has alternative id: HP:0006798
has db xref: UMLS:C0746940
has db xref: UMLS:C1854882
has exact synonym: Absent speech development
has exact synonym: Lack of language development
has exact synonym: Lack of speech
has exact synonym: No speech development
has exact synonym: No speech or language development
has exact synonym: Nonverbal
has OBO namespace: human_phenotype
id: HP:0001344
type: Class
comment: This term should not be used in very young children.
subclass of: Delayed speech and language development
subclass of: Neurological speech impairment
notation: HP:0001344

Psychotic mentation
tree view: Psychosis
has db xref: UMLS:C4025789
has OBO namespace: human_phenotype
id: HP:0001345
type: Class
subclass of: Psychosis
notation: HP:0001345

HP_0001346
IAO_0000231: IAO_0000227
IAO_0100001: EEG abnormality
type: Class
deprecated: true
notation: HP:0001346

Hyperreflexia
tree view: HP_0031826
IAO_0000115: Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.
has alternative id: HP:0001282
has alternative id: HP:0006820
has alternative id: HP:0007184
has alternative id: HP:0007318
has db xref: MSH:D012021
has db xref: SNOMEDCT_US:86854008
has db xref: UMLS:C0151889
has exact synonym: Increased deep tendon reflexes
has exact synonym: Increased reflexes
has OBO namespace: human_phenotype
id: HP:0001347
type: Class
comment: Reflexes are graded according to the following scale: 0=absent; 1=present but diminished; 2=normoactive; 3=exaggerated; and 4=clonus. Clonus is always abnormal, and a grade 3 reflex may be abnormal if it is asymmetric or if it was previously grade 2 or less.
subclass of: HP_0031826
notation: HP:0001347

Brisk reflexes
tree view: Hyperreflexia
IAO_0000115: Tendon reflexes that are noticably more active than usual (conventionally denoted 3+ on clinical examnation). Brisk reflexes may or may not indicate a neurological lesion. They are distinguished from hyperreflexia by the fact that hyerreflexia is characterized by hyperactive repeating (clonic) reflexes, which are considered to be always abnormal.
has db xref: UMLS:C2673700
has OBO namespace: human_phenotype
id: HP:0001348
type: Class
subclass of: Hyperreflexia
notation: HP:0001348

Facial diplegia
tree view: HP_0010628
IAO_0000115: Facial diplegia refers to bilateral facial palsy (bilateral facial palsy is much rarer than unilateral facial palsy).
has alternative id: HP:0005334
has alternative id: HP:0007085
has db xref: UMLS:C1836003
has exact synonym: Bilateral facial weakness
has exact synonym: Facial paresis, bilateral
has OBO namespace: human_phenotype
id: HP:0001349
in subset: hposlim core
type: Class
subclass of: HP_0010628
notation: HP:0001349

Slurred speech
tree view: HP_0011443
IAO_0000115: Abnormal coordination of muscles involved in speech.
has db xref: SNOMEDCT_US:289195008
has db xref: UMLS:C0234518
has exact synonym: Slurred speech
has OBO namespace: human_phenotype
id: HP:0001350
type: Class
subclass of: HP_0011443
notation: HP:0001350

Jerk-locked premyoclonus spikes
tree view: HP_0030178
IAO_0000115: Jerk-locked averaging (JLA) is used to record the timing and distribution of brain activity preceding brisk involuntary movements such as those observed in patients with myoclonus. JLA is capable of revealing a premyoclonus spike in the absence of paroxysmal activity in the routine EEG.
has db xref: UMLS:C3552825
has OBO namespace: human_phenotype
id: HP:0001351
type: Class
subclass of: HP_0030178
notation: HP:0001351

HP_0001352
IAO_0000231: IAO_0000227
IAO_0100001: Babinski sign
type: Class
deprecated: true
notation: HP:0001352

HP_0001353
IAO_0000231: IAO_0000227
IAO_0100001: HP_0006824
type: Class
deprecated: true
notation: HP:0001353

HP_0001354
IAO_0000231: IAO_0000227
IAO_0100001: Headache
type: Class
deprecated: true
notation: HP:0001354

Megalencephaly
tree view: Abnormality of the cerebrum
IAO_0000115: Diffuse enlargement of the entire cerebral hemispheres leading to macrocephaly (with or without overlying cortical dysplasia).
has broad synonym: Enlarged brain
has db xref: MSH:D058627
has db xref: SNOMEDCT_US:19410003
has db xref: UMLS:C0221355
has exact synonym: Macrencephaly
has OBO namespace: human_phenotype
id: HP:0001355
type: Class
subclass of: Abnormality of the cerebrum
notation: HP:0001355

HP_0001356
IAO_0000231: IAO_0000227
IAO_0100001: Turricephaly
type: Class
deprecated: true
notation: HP:0001356

Plagiocephaly
tree view: Abnormality of calvarial morphology
IAO_0000115: Asymmetric head shape, which is usually a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to rhomboid cranial shape.
has alternative id: HP:0001121
has broad synonym: Asymmetry of the posterior cranium
has broad synonym: Asymmetry of the posterior head
has broad synonym: Asymmetry of the posterior skull
has broad synonym: Flat head
has broad synonym: Rhomboid shaped head
has db xref: MSH:D049068
has db xref: MSH:D059041
has db xref: SNOMEDCT_US:21850008
has db xref: SNOMEDCT_US:254024005
has db xref: UMLS:C0265529
has db xref: UMLS:C1450010
has db xref: UMLS:C4072830
has db xref: UMLS:C4280597
has db xref: UMLS:C4280598
has db xref: UMLS:C4280807
has exact synonym: Flat head syndrome
has exact synonym: Flattening of cranial vault
has exact synonym: Flattening of cranium
has exact synonym: Flattening of skull
has exact synonym: Rhomboid shaped cranium
has exact synonym: Rhomboid shaped skull
has narrow synonym: Deformational plagiocephaly
has narrow synonym: Flattening of head
has narrow synonym: Positional plagiocephaly
has OBO namespace: human_phenotype
id: HP:0001357
in subset: hposlim core
type: Class
comment: Plagiocephaly may affect the posterior skull alone. With plagiocephaly, one can see a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to rhomboid cranial shape or asymmetry of the posterior skull alone.
subclass of: Abnormality of calvarial morphology
notation: HP:0001357

HP_0001358
IAO_0000231: IAO_0000227
IAO_0100001: Frontal bossing
type: Class
deprecated: true
notation: HP:0001358

HP_0001359
IAO_0000231: IAO_0000227
IAO_0100001: Frontal bossing
type: Class
deprecated: true
notation: HP:0001359

Holoprosencephaly
tree view: HP_0012443
IAO_0000115: Holoprosencephaly is a structural anomaly of the brain in which the developing forebrain fails to divide into two separate hemispheres and ventricles.
has alternative id: HP:0009807
has db xref: Fyler:4338
has db xref: MSH:D016142
has db xref: SNOMEDCT_US:30915001
has db xref: UMLS:C0079541
has exact synonym: Single brain ventricle
has OBO namespace: human_phenotype
id: HP:0001360
type: Class
comment: The presence of a single cerebral ventricle (instead of the usual four) may be seen as part of holoprosencephaly.
subclass of: HP_0012443
notation: HP:0001360

Nystagmus-induced head nodding
tree view: Nystagmus
IAO_0000115: Head movements associated with nystagmus, that may represent an attempt to compensate for the involuntary eye movements and to improve vision.
has db xref: UMLS:C4025788
has OBO namespace: human_phenotype
id: HP:0001361
type: Class
subclass of: Nystagmus
notation: HP:0001361

Calvarial skull defect
tree view: Abnormality of calvarial morphology
IAO_0000115: A localized defect in the bone of the skull resulting from abnormal embryological development. The defect is covered by normal skin. In some cases, skull x-rays have shown underlying lytic bone lesions which have closed before the age of one year.
has db xref: UMLS:C4025787
has db xref: UMLS:C4280595
has db xref: UMLS:C4280596
has exact synonym: Cranial defect
has exact synonym: Skull defect
has narrow synonym: Calvarial defect
has OBO namespace: human_phenotype
id: HP:0001362
type: Class
subclass of: Abnormality of calvarial morphology
notation: HP:0001362

Craniosynostosis
tree view: Abnormality of calvarial morphology
tree view: HP_0011329
IAO_0000115: Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth.
has alternative id: HP:0001365
has alternative id: HP:0004494
has alternative id: HP:0005448
has alternative id: HP:0005457
has alternative id: HP:0005467
has alternative id: HP:0008492
has broad synonym: Deformity of the skull
has db xref: Fyler:4336
has db xref: MSH:D003398
has db xref: SNOMEDCT_US:57219006
has db xref: UMLS:C0010278
has db xref: UMLS:C0235942
has exact synonym: Cranial suture synostosis
has exact synonym: Craniosyostosis
has exact synonym: Early fusion of cranial sutures
has exact synonym: Premature closure of cranial sutures
has exact synonym: Premature fontanel closure
has exact synonym: Premature suture closure
has OBO namespace: human_phenotype
has related synonym: Craniostenosis
id: HP:0001363
in subset: hposlim core
type: Class
comment: Skull deformity caused by the premature closure of the cranial sutures. Craniostenosis is a deformity of the skull caused by craniosynostosis, with consequent cessation of skull growth.
subclass of: Abnormality of calvarial morphology
subclass of: HP_0011329
notation: HP:0001363

HP_0001364
IAO_0000231: IAO_0000227
IAO_0100001: Relative macrocephaly
type: Class
deprecated: true
notation: HP:0001364

HP_0001365
IAO_0000231: IAO_0000227
IAO_0100001: Craniosynostosis
type: Class
deprecated: true
notation: HP:0001365

HP_0001366
IAO_0000231: IAO_0000227
IAO_0100001: Microcephaly
type: Class
deprecated: true
notation: HP:0001366

Abnormal joint morphology
tree view: HP_0011842
IAO_0000115: An abnormal structure or form of the joints, i.e., one or more of the articulations where two bones join.
has db xref: MSH:D007592
has db xref: SNOMEDCT_US:399269003
has db xref: UMLS:C0022408
has db xref: UMLS:C0240083
has exact synonym: Abnormal shape of joints
has exact synonym: Abnormality of the joints
has exact synonym: Anomaly of the joints
has OBO namespace: human_phenotype
has related synonym: Joint disease
id: HP:0001367
type: Class
subclass of: HP_0011842
notation: HP:0001367

HP_0001368
IAO_0000231: IAO_0000227
IAO_0100001: Gout
type: Class
deprecated: true
notation: HP:0001368

Arthritis
tree view: Abnormal joint morphology
IAO_0000115: Inflammation of a joint.
has db xref: MSH:D001168
has db xref: SNOMEDCT_US:3723001
has db xref: UMLS:C0003864
has exact synonym: Arthritis
has exact synonym: Joint inflammation
has OBO namespace: human_phenotype
id: HP:0001369
type: Class
subclass of: Abnormal joint morphology
notation: HP:0001369

Rheumatoid arthritis
tree view: Arthritis
IAO_0000115: Inflammatory changes in the synovial membranes and articular structures with widespread fibrinoid degeneration of the collagen fibers in mesenchymal tissues, as well as atrophy and rarefaction of bony structures.
has db xref: MSH:D001172
has db xref: SNOMEDCT_US:69896004
has db xref: UMLS:C0003873
has exact synonym: RA
has exact synonym: Rheumatoid arthritis
has OBO namespace: human_phenotype
id: HP:0001370
type: Class
subclass of: Arthritis
notation: HP:0001370

Flexion contracture
tree view: Abnormality of connective tissue
tree view: HP_0011729
tree view: HP_0011805
tree view: HP_0100261
IAO_0000115: A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.
has alternative id: HP:0001372
has alternative id: HP:0001381
has alternative id: HP:0005053
has alternative id: HP:0005189
has alternative id: HP:0005660
has db xref: MSH:D003286
has db xref: SNOMEDCT_US:203598005
has db xref: SNOMEDCT_US:385522000
has db xref: SNOMEDCT_US:55033002
has db xref: SNOMEDCT_US:57048009
has db xref: SNOMEDCT_US:7890003
has db xref: SNOMEDCT_US:88565003
has db xref: UMLS:C0009917
has db xref: UMLS:C0009918
has db xref: UMLS:C0333068
has db xref: UMLS:C1850530
has exact synonym: Contracture
has exact synonym: Flexed joint that cannot be straightened
has exact synonym: Flexion contractures
has exact synonym: Flexion contractures of joints
has exact synonym: Joint contracture
has exact synonym: Joint contractures
has OBO namespace: human_phenotype
has related synonym: Contractures
id: HP:0001371
type: Class
subclass of: Abnormality of connective tissue
subclass of: HP_0011729
subclass of: HP_0011805
subclass of: HP_0100261
notation: HP:0001371

HP_0001372
IAO_0000231: IAO_0000227
IAO_0100001: Flexion contracture
type: Class
deprecated: true
notation: HP:0001372

Joint dislocation
tree view: Abnormal joint morphology
IAO_0000115: Displacement or malalignment of joints.
has alternative id: HP:0002772
has alternative id: HP:0005837
has db xref: MSH:D004204
has db xref: SNOMEDCT_US:108367008
has db xref: SNOMEDCT_US:87642003
has db xref: UMLS:C0012691
has exact synonym: Joint dislocation
has exact synonym: Joint dislocations
has exact synonym: Recurrent joint dislocations
has OBO namespace: human_phenotype
id: HP:0001373
type: Class
comment: Dislocation is defined as a complete disruption of the joint and subluxation is defined as a partial dislocation followed by relocation.
subclass of: Abnormal joint morphology
notation: HP:0001373

Congenital hip dislocation
tree view: Hip dislocation
has db xref: MSH:D006618
has db xref: SNOMEDCT_US:48334007
has db xref: SNOMEDCT_US:52781008
has db xref: UMLS:C0019555
has exact synonym: Congenital dislocation of the hip
has exact synonym: Congenital dislocation of the hips
has exact synonym: Congenital hip anomaly
has exact synonym: Congenital hip dislocations
has exact synonym: Dislocated hip since birth
has OBO namespace: human_phenotype
id: HP:0001374
type: Class
subclass of: Hip dislocation
notation: HP:0001374

HP_0001375
IAO_0000231: IAO_0000227
IAO_0100001: Hip dislocation
type: Class
deprecated: true
notation: HP:0001375

Limitation of joint mobility
tree view: HP_0011729
IAO_0000115: A reduction in the freedom of movement of one or more joints.
has alternative id: HP:0003101
has db xref: UMLS:C1857108
has exact synonym: Decreased joint mobility
has exact synonym: Decreased mobility of joints
has exact synonym: Limitation of joint mobility
has exact synonym: Limited joint mobility
has exact synonym: Limited joint motion
has OBO namespace: human_phenotype
id: HP:0001376
type: Class
subclass of: HP_0011729
notation: HP:0001376

Limited elbow extension
tree view: Limited elbow movement
IAO_0000115: Limited ability to straighten the arm at the elbow joint.
has alternative id: HP:0005073
has db xref: UMLS:C1867103
has exact synonym: Decreased elbow extension
has exact synonym: Elbow limited extension
has exact synonym: Limitation of elbow extension
has exact synonym: Limited elbow extension
has exact synonym: Limited extension at elbows
has exact synonym: Limited forearm extension
has exact synonym: Restricted elbow extension
has OBO namespace: human_phenotype
id: HP:0001377
in subset: hposlim core
type: Class
subclass of: Limited elbow movement
notation: HP:0001377

HP_0001378
IAO_0000231: IAO_0000227
IAO_0100001: Joint hypermobility
type: Class
deprecated: true
notation: HP:0001378

obsolete Degenerative joint disease
IAO_0000231: IAO_0000227
IAO_0100001: Osteoarthritis
IAO_0100001: HP:0002758
has OBO namespace: human_phenotype
id: HP:0001379
type: Class
deprecated: true
notation: HP:0001379

obsolete Ligamentous laxity
IAO_0000231: IAO_0000227
IAO_0100001: Joint laxity
IAO_0100001: HP:0001388
has OBO namespace: human_phenotype
id: HP:0001380
type: Class
deprecated: true
notation: HP:0001380

HP_0001381
IAO_0000231: IAO_0000227
IAO_0100001: Flexion contracture
type: Class
deprecated: true
notation: HP:0001381

Joint hypermobility
tree view: HP_0011729
IAO_0000115: The ability of a joint to move beyond its normal range of motion.
has alternative id: HP:0001378
has alternative id: HP:0005034
has db xref: SNOMEDCT_US:298181000
has db xref: UMLS:C1844820
has exact synonym: Double-Jointed
has exact synonym: Extensible joints
has exact synonym: Flexible joints
has exact synonym: Hyperextensible joints
has exact synonym: Increased mobility of joints
has exact synonym: Joint hyperextensibility
has OBO namespace: human_phenotype
id: HP:0001382
type: Class
subclass of: HP_0011729
notation: HP:0001382

HP_0001383
IAO_0000231: IAO_0000227
IAO_0100001: Joint laxity
type: Class
deprecated: true
notation: HP:0001383

Abnormality of the hip joint
tree view: Abnormality of the hip bone
tree view: HP_0005262
tree view: HP_0100491
IAO_0000115: An abnormality of the hip joint.
has db xref: UMLS:C4020870
has exact synonym: Abnormality of the hip joint
has OBO namespace: human_phenotype
has related synonym: Abnormality of the hip joints
id: HP:0001384
type: Class
subclass of: Abnormality of the hip bone
subclass of: HP_0005262
subclass of: HP_0100491
notation: HP:0001384

Hip dysplasia
tree view: Abnormality of the hip bone
IAO_0000115: The presence of developmental dysplasia of the hip.
has alternative id: HP:0008787
has broad synonym: Abnormal formation of the hip
has db xref: MSH:D006618
has db xref: SNOMEDCT_US:48334007
has db xref: SNOMEDCT_US:52781008
has db xref: UMLS:C0019555
has exact synonym: Congenital hip dysplasia
has OBO namespace: human_phenotype
id: HP:0001385
type: Class
subclass of: Abnormality of the hip bone
notation: HP:0001385

Joint swelling
tree view: Edema
tree view: Abnormal joint morphology
has db xref: SNOMEDCT_US:271771009
has db xref: UMLS:C0152031
has exact synonym: Joint swelling
has OBO namespace: human_phenotype
id: HP:0001386
type: Class
subclass of: Edema
subclass of: Abnormal joint morphology
notation: HP:0001386

Joint stiffness
tree view: Limitation of joint mobility
IAO_0000115: Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time.
has alternative id: HP:0002775
has alternative id: HP:0003033
has db xref: SNOMEDCT_US:84445001
has db xref: UMLS:C0162298
has exact synonym: Joint stiffness
has exact synonym: Stiff joint
has exact synonym: Stiff joints
has OBO namespace: human_phenotype
id: HP:0001387
type: Class
subclass of: Limitation of joint mobility
notation: HP:0001387

Joint laxity
tree view: HP_0011729
IAO_0000115: Lack of stability of a joint.
has alternative id: HP:0001380
has alternative id: HP:0001383
has alternative id: HP:0002771
has db xref: MSH:D007593
has db xref: SNOMEDCT_US:27911000
has db xref: SNOMEDCT_US:298203008
has db xref: UMLS:C0086437
has db xref: UMLS:C0158359
has exact synonym: Hyperlaxity
has exact synonym: Joint instability
has exact synonym: Joint ligamentous laxity
has exact synonym: Lax joints
has exact synonym: Ligamentous laxity
has exact synonym: Loose-jointedness
has exact synonym: Loosejointedness
has OBO namespace: human_phenotype
id: HP:0001388
type: Class
comment: Joint laxity may be caused by a number of factors including intraarticular disease and injury or slacking of extraarticular structures such as joint capsules, ligaments, and muscles.
subclass of: HP_0011729
notation: HP:0001388

HP_0001389
IAO_0000231: IAO_0000227
IAO_0100001: Arthrogryposis multiplex congenita
type: Class
deprecated: true
notation: HP:0001389

HP_0001390
IAO_0000231: IAO_0000227
IAO_0100001: Arthrogryposis multiplex congenita
type: Class
deprecated: true
notation: HP:0001390

HP_0001391
IAO_0000231: IAO_0000227
IAO_0100001: HP_0005261
type: Class
deprecated: true
notation: HP:0001391

Abnormality of the liver
tree view: Abnormality of the abdominal organs
IAO_0000115: An abnormality of the liver.
has db xref: MSH:D008107
has db xref: SNOMEDCT_US:235856003
has db xref: UMLS:C0023895
has db xref: UMLS:C4021780
has exact synonym: Abnormal liver
has exact synonym: Abnormality of the liver
has exact synonym: Liver abnormality
has OBO namespace: human_phenotype
has related synonym: Liver disease
id: HP:0001392
type: Class
subclass of: Abnormality of the abdominal organs
notation: HP:0001392

HP_0001393
IAO_0000231: IAO_0000227
IAO_0100001: Hepatomegaly
type: Class
deprecated: true
notation: HP:0001393

Cirrhosis
tree view: HP_0410042
IAO_0000115: A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function.
has db xref: MSH:D008103
has db xref: SNOMEDCT_US:19943007
has db xref: UMLS:C0023890
has exact synonym: Hepatic cirrhosis
has exact synonym: Scar tissue replaces healthy tissue in the liver
has OBO namespace: human_phenotype
has related synonym: Liver cirrhosis
id: HP:0001394
type: Class
comment: Cirrhosis is caused by chronic liver disease as a result of viral infections (hepatitis), alcohol abuse, certain medications, certain metabolic disorders of iron and copper, and many others. Cirrhosis may lead to a number of abnormalities including hepatomegaly, jaundice, abnormal liver function tests, ascites, dilatation of veins in the abdominal wall, anemia, and clotting deficiencies.
subclass of: HP_0410042
notation: HP:0001394

Hepatic fibrosis
tree view: HP_0410042
IAO_0000115: The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process.
has db xref: MSH:D008103
has db xref: SNOMEDCT_US:62484002
has db xref: UMLS:C0239946
has OBO namespace: human_phenotype
id: HP:0001395
type: Class
subclass of: HP_0410042
notation: HP:0001395

Cholestasis
tree view: Abnormality of the biliary system
IAO_0000115: Impairment of bile flow due to obstruction in bile ducts.
has db xref: MSH:D002779
has db xref: SNOMEDCT_US:197446008
has db xref: SNOMEDCT_US:30144000
has db xref: SNOMEDCT_US:33688009
has db xref: UMLS:C0008370
has exact synonym: Slowed or blocked flow of bile from liver
has OBO namespace: human_phenotype
id: HP:0001396
type: Class
subclass of: Abnormality of the biliary system
notation: HP:0001396

Hepatic steatosis
tree view: HP_0006561
IAO_0000115: The presence of steatosis in the liver.
has alternative id: HP:0002252
has alternative id: HP:0200121
has db xref: MSH:D005234
has db xref: SNOMEDCT_US:197321007
has db xref: SNOMEDCT_US:442191002
has db xref: UMLS:C2711227
has exact synonym: Fatty infiltration of liver
has exact synonym: Fatty liver
has exact synonym: Liver steatosis
has exact synonym: Steatosis
has OBO namespace: human_phenotype
id: HP:0001397
type: Class
comment: Steatosis refers to an abnormal accumulation of lipids within a cell or tissue.
subclass of: HP_0006561
notation: HP:0001397

HP_0001398
IAO_0000231: IAO_0000227
IAO_0100001: Hepatomegaly
type: Class
deprecated: true
notation: HP:0001398

Hepatic failure
tree view: Decreased liver function
has db xref: MSH:D017093
has db xref: SNOMEDCT_US:59927004
has db xref: UMLS:C0085605
has exact synonym: Liver failure
has OBO namespace: human_phenotype
id: HP:0001399
type: Class
subclass of: Decreased liver function
notation: HP:0001399

obsolete Hepatic abscesses due to immunodeficiency
IAO_0000231: IAO_0000227
IAO_0100001: HP_0100523
IAO_0100001: HP:0100523
has OBO namespace: human_phenotype
id: HP:0001400
type: Class
deprecated: true
notation: HP:0001400

Intrahepatic biliary dysgenesis
tree view: HP_0011040
has db xref: UMLS:C1859235
has OBO namespace: human_phenotype
id: HP:0001401
type: Class
subclass of: HP_0011040
notation: HP:0001401

Hepatocellular carcinoma
tree view: Neoplasm of the liver
IAO_0000115: A kind of neoplasm of the liver that originates in hepatocytes and presents macroscopically as a soft and hemorrhagic tan mass in the liver.
has alternative id: HP:0002899
has alternative id: HP:0003007
has alternative id: HP:0006750
has db xref: MSH:D006528
has db xref: NCIT:C3099
has db xref: SNOMEDCT_US:109841003
has db xref: SNOMEDCT_US:187769009
has db xref: SNOMEDCT_US:25370001
has db xref: UMLS:C1862761
has db xref: UMLS:C1867955
has db xref: UMLS:C2239176
has OBO namespace: human_phenotype
has related synonym: Increased hepatocellular carcinoma risk
has related synonym: Increased incidence of hepatocellular carcinoma
id: HP:0001402
type: Class
comment: Hepatocellular carcinoma may be associated with hepatitis B virus infection and cirrhosis or alcoholic cirrhosis.
subclass of: Neoplasm of the liver
notation: HP:0001402

Macrovesicular hepatic steatosis
tree view: Hepatic steatosis
IAO_0000115: A form of hepatic steatosis characterized by the presence of large, lipid-laden vesicles in the affected hepatocytes.
has db xref: UMLS:C1837256
has exact synonym: Macrovesicular steatosis
has OBO namespace: human_phenotype
id: HP:0001403
type: Class
subclass of: Hepatic steatosis
notation: HP:0001403

Hepatocellular necrosis
tree view: Hepatic necrosis
has db xref: UMLS:C1855038
has exact synonym: Death of liver cells
has exact synonym: Hepatocellular loss
has OBO namespace: human_phenotype
id: HP:0001404
type: Class
subclass of: Hepatic necrosis
notation: HP:0001404

Periportal fibrosis
tree view: Hepatic fibrosis
IAO_0000115: The presence of fibrosis affecting the interlobular stroma of liver.
has db xref: UMLS:C1849766
has OBO namespace: human_phenotype
id: HP:0001405
type: Class
comment: Liver fibrosis is not only the result of necrosis, collapse and scar formation but also the result of derangements in the synthesis and degradation of matrix by injured mesenchymal cells.
subclass of: Hepatic fibrosis
notation: HP:0001405

Intrahepatic cholestasis
tree view: Cholestasis
tree view: HP_0031865
IAO_0000115: Impairment of bile flow due to obstruction in the small bile ducts within the liver.
has broad synonym: Impaired release of bile from liver
has db xref: MSH:D002780
has db xref: SNOMEDCT_US:4637005
has db xref: UMLS:C0008372
has OBO namespace: human_phenotype
id: HP:0001406
type: Class
subclass of: Cholestasis
subclass of: HP_0031865
notation: HP:0001406

Hepatic cysts
tree view: HP_0006706
has db xref: SNOMEDCT_US:85057007
has db xref: UMLS:C0267834
has exact synonym: Liver cysts
has OBO namespace: human_phenotype
id: HP:0001407
type: Class
subclass of: HP_0006706
notation: HP:0001407

Bile duct proliferation
tree view: HP_0012440
IAO_0000115: Proliferative changes of the bile ducts.
has db xref: SNOMEDCT_US:20239009
has db xref: UMLS:C0267818
has exact synonym: Proliferation of bile canaliculi
has OBO namespace: human_phenotype
id: HP:0001408
type: Class
subclass of: HP_0012440
notation: HP:0001408

Portal hypertension
tree view: HP_0006707
tree view: HP_0032263
IAO_0000115: Increased pressure in the portal vein.
has db xref: MSH:D006975
has db xref: SNOMEDCT_US:34742003
has db xref: UMLS:C0020541
has OBO namespace: human_phenotype
id: HP:0001409
type: Class
comment: Portal hypertension is defined as portal vein pressures exceeding 5 mm Hg or portal vein to hepatic vein gradient of greater than 10 mm Hg.
subclass of: HP_0006707
subclass of: HP_0032263
notation: HP:0001409

Decreased liver function
tree view: HP_0025155
IAO_0000115: Reduced ability of the liver to perform its functions.
has alternative id: HP:0004393
has alternative id: HP:0005228
has alternative id: HP:0006570
has db xref: MSH:D008107
has db xref: SNOMEDCT_US:75183008
has db xref: SNOMEDCT_US:77981007
has db xref: UMLS:C0086565
has db xref: UMLS:C0232744
has db xref: UMLS:C3279149
has exact synonym: Decreased liver function
has exact synonym: Liver dysfunction
has OBO namespace: human_phenotype
has related synonym: Liver dysfunction, mild
id: HP:0001410
type: Class
subclass of: HP_0025155
notation: HP:0001410

HP_0001411
IAO_0000231: IAO_0000227
IAO_0100001: Elevated hepatic transaminase
type: Class
deprecated: true
notation: HP:0001411

Enteroviral hepatitis
tree view: HP_0006562
IAO_0000115: Inflammation of the liver due to infection with enterovirus.
has db xref: UMLS:C1843995
has OBO namespace: human_phenotype
id: HP:0001412
type: Class
subclass of: HP_0006562
notation: HP:0001412

Micronodular cirrhosis
tree view: Cirrhosis
IAO_0000115: A type of cirrhosis characterized by the presence of small regenerative nodules.
has db xref: SNOMEDCT_US:21861000
has db xref: UMLS:C0267812
has OBO namespace: human_phenotype
id: HP:0001413
type: Class
comment: In micronodular cirrhosis (Laennec's cirrhosis or portal cirrhosis) regenerating nodules are under 3 mm. This finding can be demonstrated by liver biopsy.
subclass of: Cirrhosis
notation: HP:0001413

Microvesicular hepatic steatosis
tree view: Hepatic steatosis
IAO_0000115: A form of hepatic steatosis characterized by the presence of small, lipid-laden vesicles in the affected hepatocytes.
has db xref: UMLS:C1850415
has exact synonym: Microvesicular steatosis
has OBO namespace: human_phenotype
id: HP:0001414
type: Class
comment: This finding can be demonstrated by liver biopsy.
subclass of: Hepatic steatosis
notation: HP:0001414

HP_0001415
IAO_0000231: IAO_0000227
IAO_0100001: Autosomal dominant inheritance
type: Class
deprecated: true
notation: HP:0001415

HP_0001416
IAO_0000231: IAO_0000227
IAO_0100001: Autosomal recessive inheritance
type: Class
deprecated: true
notation: HP:0001416

X-linked inheritance
tree view: HP_0010985
IAO_0000115: A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome.
has alternative id: HP:0001418
has db xref: MSH:D050172
has db xref: SNOMEDCT_US:263934009
has db xref: UMLS:C0241764
has exact synonym: X-linked
has OBO namespace: human_phenotype
has related synonym: X-linked form
id: HP:0001417
type: Class
subclass of: HP_0010985
notation: HP:0001417

HP_0001418
IAO_0000231: IAO_0000227
IAO_0100001: X-linked inheritance
type: Class
deprecated: true
notation: HP:0001418

X-linked recessive inheritance
tree view: X-linked inheritance
IAO_0000115: A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
has db xref: UMLS:C1845977
has exact synonym: X-linked recessive
has OBO namespace: human_phenotype
id: HP:0001419
type: Class
subclass of: X-linked inheritance
notation: HP:0001419

HP_0001420
IAO_0000231: IAO_0000227
IAO_0100001: Sporadic
type: Class
deprecated: true
notation: HP:0001420

Abnormality of the musculature of the hand
tree view: Abnormality of the hand
tree view: Abnormality of the musculature of the upper limbs
created by: peter
creation date: 2008-04-07T10:59:00Z
has db xref: UMLS:C4025786
has exact synonym: Abnormal hand muscles
has OBO namespace: human_phenotype
id: HP:0001421
type: Class
subclass of: Abnormality of the hand
subclass of: Abnormality of the musculature of the upper limbs
notation: HP:0001421

HP_0001422
IAO_0000231: IAO_0000227
IAO_0100001: Small for gestational age
type: Class
deprecated: true
notation: HP:0001422

X-linked dominant inheritance
tree view: X-linked inheritance
IAO_0000115: A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation.
has db xref: UMLS:C1847879
has exact synonym: X-linked dominant
has OBO namespace: human_phenotype
id: HP:0001423
type: Class
subclass of: X-linked inheritance
notation: HP:0001423

HP_0001424
IAO_0000231: IAO_0000227
IAO_0100001: Severe short stature
type: Class
deprecated: true
notation: HP:0001424

Heterogeneous
tree view: Mode of inheritance
has db xref: MSH:D018740
has db xref: UMLS:C0242960
has exact synonym: Genetic heterogeneity
has exact synonym: Heterogeneity
has OBO namespace: human_phenotype
id: HP:0001425
type: Class
subclass of: Mode of inheritance
notation: HP:0001425

Multifactorial inheritance
tree view: Mode of inheritance
IAO_0000115: A mode of inheritance that depends on a mixture of major and minor genetic determinants possibly together with environmental factors. Diseases inherited in this manner are termed complex diseases.
has alternative id: HP:0001429
has alternative id: HP:0001472
has db xref: MSH:D020412
has db xref: UMLS:C0600599
has OBO namespace: human_phenotype
has related synonym: Familial predisposition
id: HP:0001426
type: Class
comment: The observed inheritance for a multifactorial genetic trait or disorder may have a higher frequency within the same family, whether the etiology is genetic or environmental, or a combination of the two.
subclass of: Mode of inheritance
notation: HP:0001426

Mitochondrial inheritance
tree view: Mode of inheritance
IAO_0000115: A mode of inheritance that is observed for traits related to a gene encoded on the mitochondrial genome. Because the mitochondrial genome is essentially always maternally inherited, a mitochondrial condition can only be transmitted by females, although the condition can affect both sexes. The proportion of mutant mitochondria can vary (heteroplasmy).
has alternative id: HP:0001431
has alternative id: HP:0001458
has alternative id: HP:0001506
has db xref: MSH:D050259
has db xref: UMLS:C0887941
has exact synonym: Mitochondrial
has OBO namespace: human_phenotype
id: HP:0001427
type: Class
subclass of: Mode of inheritance
notation: HP:0001427

Somatic mutation
tree view: Mode of inheritance
IAO_0000115: A mode of inheritance in which a trait or disorder results from a de novo mutation occurring after conception, rather than being inherited from a preceding generation.
has db xref: SNOMEDCT_US:124975008
has db xref: UMLS:C0544886
has OBO namespace: human_phenotype
id: HP:0001428
type: Class
comment: This term applies to a disease whose etiology is related to an alteration in DNA that occurs after conception. Somatic mutations occur in all body tissues throughout life and are not present in the germline from which the individual developed (The Greek word soma means body.) The majority of somatic mutations have no phenotypic effect. However, occasionally they may have functional consequences that confer a selective advantage on the cell owing to preferential growth or survival. These so-called driver mutations may ultimately lead to cancer or other diseases.
subclass of: Mode of inheritance
notation: HP:0001428

HP_0001429
IAO_0000231: IAO_0000227
IAO_0100001: Multifactorial inheritance
type: Class
deprecated: true
notation: HP:0001429

Abnormality of the calf musculature
tree view: Abnormality of the musculature of the lower limbs
created by: peter
creation date: 2008-04-07T10:18:00Z
has alternative id: HP:0004300
has db xref: UMLS:C4021779
has exact synonym: Abnormal calf muscles
has exact synonym: Abnormality of calf musculature
has OBO namespace: human_phenotype
id: HP:0001430
type: Class
subclass of: Abnormality of the musculature of the lower limbs
notation: HP:0001430

HP_0001431
IAO_0000231: IAO_0000227
IAO_0100001: Mitochondrial inheritance
type: Class
deprecated: true
notation: HP:0001431

HP_0001432
IAO_0000231: IAO_0000227
IAO_0100001: Death in childhood
type: Class
deprecated: true
notation: HP:0001432

Hepatosplenomegaly
tree view: Visceromegaly
tree view: HP_0025408
tree view: HP_0410042
IAO_0000115: Simultaneous enlargement of the liver and spleen.
created by: peter
creation date: 2008-02-20T10:51:00Z
has db xref: SNOMEDCT_US:36760000
has db xref: UMLS:C0019214
has exact synonym: Enlarged liver and spleen
has OBO namespace: human_phenotype
id: HP:0001433
type: Class
subclass of: Visceromegaly
subclass of: HP_0025408
subclass of: HP_0410042
notation: HP:0001433

HP_0001434
IAO_0000231: IAO_0000227
IAO_0100001: Growth delay
type: Class
deprecated: true
notation: HP:0001434

Abnormality of the shoulder girdle musculature
tree view: Abnormality of the musculature of the upper limbs
created by: peter
creation date: 2008-04-07T10:19:00Z
has alternative id: HP:0004301
has db xref: UMLS:C4021778
has exact synonym: Abnormality of shoulder musculature
has OBO namespace: human_phenotype
id: HP:0001435
type: Class
subclass of: Abnormality of the musculature of the upper limbs
notation: HP:0001435

Abnormality of the foot musculature
tree view: Abnormality of the musculature of the lower limbs
IAO_0000115: An anomaly of the musculature of foot.
created by: peter
creation date: 2008-04-07T10:21:00Z
has db xref: UMLS:C4025785
has exact synonym: Abnormal foot muscles
has OBO namespace: human_phenotype
id: HP:0001436
type: Class
subclass of: Abnormality of the musculature of the lower limbs
notation: HP:0001436

Abnormality of the musculature of the lower limbs
tree view: Abnormality of the lower limb
tree view: HP_0009127
created by: peter
creation date: 2008-04-07T10:21:00Z
has db xref: UMLS:C4025784
has OBO namespace: human_phenotype
id: HP:0001437
type: Class
subclass of: Abnormality of the lower limb
subclass of: HP_0009127
notation: HP:0001437

Abnormality of abdomen morphology
tree view: HP_0025031
IAO_0000115: A structural abnormality of the abdomen ('belly'), that is, the part of the body between the pelvis and the thorax.
has db xref: UMLS:C4020869
has exact synonym: Abnormality of abdomen morphology
has exact synonym: Abnormality of the abdomen
has OBO namespace: human_phenotype
has related synonym: Abdomen abnormality
id: HP:0001438
type: Class
subclass of: HP_0025031
notation: HP:0001438

HP_0001439
IAO_0000231: IAO_0000227
IAO_0100001: Abnormality of femur morphology
type: Class
deprecated: true
notation: HP:0001439

Metatarsal synostosis
tree view: Abnormal metatarsal morphology
tree view: HP_0009140
tree view: HP_0100265
created by: peter
creation date: 2008-04-17T02:36:00Z
has alternative id: HP:0004705
has alternative id: HP:0008098
has db xref: UMLS:C1862697
has exact synonym: Fusion of metatarsals
has exact synonym: Fusion of the long bones of the feet
has exact synonym: Synostosis involving metatarsal bones
has OBO namespace: human_phenotype
id: HP:0001440
type: Class
subclass of: Abnormal metatarsal morphology
subclass of: HP_0009140
subclass of: HP_0100265
notation: HP:0001440

Abnormality of the musculature of the thigh
tree view: Abnormality of the musculature of the lower limbs
created by: peter
creation date: 2008-04-07T10:27:00Z
has db xref: UMLS:C4025783
has exact synonym: Abnormal thigh muscles
has OBO namespace: human_phenotype
id: HP:0001441
type: Class
subclass of: Abnormality of the musculature of the lower limbs
notation: HP:0001441

Somatic mosaicism
tree view: Somatic mutation
IAO_0000115: The presence of genetically distinct populations of somatic cells in a given organism caused by DNA mutations, epigenetic alterations of DNA, chromosomal abnormalities or the spontaneous reversion of inherited mutations.
has db xref: UMLS:C1866227
has OBO namespace: human_phenotype
id: HP:0001442
type: Class
subclass of: Somatic mutation
notation: HP:0001442

Abnormality of the gluteal musculature
tree view: Abnormality of the musculature of the pelvis
created by: peter
creation date: 2008-04-07T10:31:00Z
has db xref: UMLS:C4025782
has exact synonym: Abnormality of glutes
has OBO namespace: human_phenotype
id: HP:0001443
type: Class
subclass of: Abnormality of the musculature of the pelvis
notation: HP:0001443

Autosomal dominant somatic cell mutation
tree view: Autosomal dominant inheritance
IAO_0000115: Being related to a de novo variant that occurs in a single cell in developing somatic tissue. The cell is the progenitor of a population of identical mutant cells, all of which have descended from the cell that mutated. Clinical manifestations depend on the identity and proportion of affected cells in the body.
has db xref: UMLS:C4025781
has OBO namespace: human_phenotype
id: HP:0001444
type: Class
subclass of: Autosomal dominant inheritance
notation: HP:0001444

Abnormality of the hip-girdle musculature
tree view: Abnormality of the musculature of the pelvis
created by: peter
creation date: 2008-04-07T10:31:00Z
has db xref: UMLS:C4025780
has OBO namespace: human_phenotype
id: HP:0001445
type: Class
subclass of: Abnormality of the musculature of the pelvis
notation: HP:0001445

Abnormality of the musculature of the upper limbs
tree view: Abnormality of the upper limb
tree view: HP_0009127
created by: peter
creation date: 2008-04-07T10:40:00Z
has db xref: UMLS:C4025779
has exact synonym: Abnormal upper limb muscles
has OBO namespace: human_phenotype
id: HP:0001446
type: Class
subclass of: Abnormality of the upper limb
subclass of: HP_0009127
notation: HP:0001446

HP_0001447
IAO_0000231: IAO_0000227
IAO_0100001: Autosomal dominant inheritance
type: Class
deprecated: true
notation: HP:0001447

HP_0001448
IAO_0000231: IAO_0000227
IAO_0100001: Autosomal dominant inheritance
type: Class
deprecated: true
notation: HP:0001448

Duplication of metatarsal bones
tree view: Abnormal metatarsal morphology
tree view: HP_0009136
created by: peter
creation date: 2008-04-17T02:37:00Z
has db xref: UMLS:C4025778
has exact synonym: Duplication of long bones of foot
has OBO namespace: human_phenotype
id: HP:0001449
type: Class
subclass of: Abnormal metatarsal morphology
subclass of: HP_0009136
notation: HP:0001449

Y-linked inheritance
tree view: HP_0010985
IAO_0000115: A mode of inheritance that is observed for traits related to a gene encoded on the Y chromosome.
has db xref: MSH:D050173
has db xref: UMLS:C0814045
has OBO namespace: human_phenotype
id: HP:0001450
type: Class
subclass of: HP_0010985
notation: HP:0001450

HP_0001451
IAO_0000231: IAO_0000227
IAO_0100001: Autosomal dominant inheritance
type: Class
deprecated: true
notation: HP:0001451

Autosomal dominant contiguous gene syndrome
tree view: Autosomal dominant inheritance
tree view: Contiguous gene syndrome
has db xref: UMLS:C4025777
has OBO namespace: human_phenotype
id: HP:0001452
type: Class
subclass of: Autosomal dominant inheritance
subclass of: Contiguous gene syndrome
notation: HP:0001452

HP_0001453
IAO_0000231: IAO_0000227
IAO_0100001: Mode of inheritance
type: Class
deprecated: true
notation: HP:0001453

Abnormality of the upper arm
tree view: Abnormality of the upper limb
created by: peter
creation date: 2008-04-07T10:41:00Z
has db xref: UMLS:C4025776
has OBO namespace: human_phenotype
id: HP:0001454
type: Class
subclass of: Abnormality of the upper limb
notation: HP:0001454

HP_0001455
IAO_0000231: IAO_0000227
IAO_0100001: Autosomal dominant inheritance
type: Class
deprecated: true
notation: HP:0001455

HP_0001456
IAO_0000231: IAO_0000227
IAO_0100001: Autosomal dominant inheritance
type: Class
deprecated: true
notation: HP:0001456

Abnormality of the musculature of the upper arm
tree view: Abnormality of the musculature of the upper limbs
tree view: Abnormality of the upper arm
created by: peter
creation date: 2008-04-07T10:42:00Z
has db xref: UMLS:C4025775
has OBO namespace: human_phenotype
id: HP:0001457
type: Class
subclass of: Abnormality of the musculature of the upper limbs
subclass of: Abnormality of the upper arm
notation: HP:0001457

HP_0001458
IAO_0000231: IAO_0000227
IAO_0100001: Mitochondrial inheritance
type: Class
deprecated: true
notation: HP:0001458

1-3 toe syndactyly
tree view: Toe syndactyly
IAO_0000115: Syndactyly with fusion of toes one to three.
has db xref: UMLS:C4025774
has exact synonym: Webbed 1st-3rd toes
has OBO namespace: human_phenotype
id: HP:0001459
type: Class
subclass of: Toe syndactyly
notation: HP:0001459

Aplasia/Hypoplasia involving the skeletal musculature
tree view: HP_0030236
IAO_0000115: Absence or underdevelopment of the musculature.
created by: peter
creation date: 2008-04-07T10:46:00Z
has db xref: UMLS:C4025773
has exact synonym: Absent/small skeletal muscles
has exact synonym: Absent/underdeveloped skeletal muscles
has OBO namespace: human_phenotype
id: HP:0001460
type: Class
subclass of: HP_0030236
notation: HP:0001460

HP_0001461
IAO_0000231: IAO_0000227
IAO_0100001: Mode of inheritance
type: Class
deprecated: true
notation: HP:0001461

HP_0001462
IAO_0000231: IAO_0000227
IAO_0100001: Abnormality of the abdominal wall
type: Class
deprecated: true
notation: HP:0001462

HP_0001463
IAO_0000231: IAO_0000227
IAO_0100001: Autosomal dominant inheritance
type: Class
deprecated: true
notation: HP:0001463

Aplasia/Hypoplasia involving the shoulder musculature
tree view: Abnormality of the shoulder girdle musculature
tree view: Aplasia/Hypoplasia involving the musculature of the upper limbs
IAO_0000115: Absence or underdevelopment of the muscles of the shoulder.
created by: peter
creation date: 2008-04-07T10:49:00Z
has db xref: UMLS:C4025772
has exact synonym: Absent/small shoulder muscles
has exact synonym: Absent/underdeveloped shoulder muscles
has OBO namespace: human_phenotype
id: HP:0001464
type: Class
subclass of: Abnormality of the shoulder girdle musculature
subclass of: Aplasia/Hypoplasia involving the musculature of the upper limbs
notation: HP:0001464

Amyotrophy involving the shoulder musculature
tree view: Abnormality of the shoulder girdle musculature
created by: peter
creation date: 2008-04-07T10:50:00Z
has db xref: UMLS:C4025771
has exact synonym: Shoulder muscle degeneration
has exact synonym: Wasting of shoulder muscles
has OBO namespace: human_phenotype
id: HP:0001465
type: Class
subclass of: Abnormality of the shoulder girdle musculature
notation: HP:0001465

Contiguous gene syndrome
tree view: Mode of inheritance
has db xref: UMLS:C1855496
has OBO namespace: human_phenotype
id: HP:0001466
type: Class
subclass of: Mode of inheritance
notation: HP:0001466

Aplasia/Hypoplasia involving the musculature of the upper limbs
tree view: Abnormality of the musculature of the upper limbs
tree view: HP_0009128
IAO_0000115: Absence or underdevelopment of the musculature of the upper limbs.
created by: peter
creation date: 2008-04-07T10:51:00Z
has db xref: UMLS:C4025770
has exact synonym: Absent/small upper limb muscles
has exact synonym: Absent/underdeveloped upper limb muscles
has OBO namespace: human_phenotype
id: HP:0001467
type: Class
subclass of: Abnormality of the musculature of the upper limbs
subclass of: HP_0009128
notation: HP:0001467

Aplasia/Hypoplasia involving the musculature of the upper arm
tree view: Abnormality of the musculature of the upper arm
tree view: Aplasia/Hypoplasia involving the musculature of the upper limbs
IAO_0000115: Absence or underdevelopment of the muscles of the upper arm.
created by: peter
creation date: 2008-04-07T10:52:00Z
has db xref: UMLS:C4025769
has exact synonym: Absent/small upper arm muscles
has exact synonym: Absent/underdeveloped upper arm muscles
has OBO namespace: human_phenotype
id: HP:0001468
type: Class
subclass of: Abnormality of the musculature of the upper arm
subclass of: Aplasia/Hypoplasia involving the musculature of the upper limbs
notation: HP:0001468

Abnormality of the musculature of the pelvis
tree view: Abnormality of the musculature
created by: peter
creation date: 2008-04-07T10:55:00Z
has db xref: UMLS:C4025768
has OBO namespace: human_phenotype
id: HP:0001469
type: Class
subclass of: Abnormality of the musculature
notation: HP:0001469

Sex-limited autosomal dominant
tree view: Autosomal dominant inheritance
has db xref: UMLS:C4025767
has OBO namespace: human_phenotype
id: HP:0001470
type: Class
subclass of: Autosomal dominant inheritance
notation: HP:0001470

Aplasia/Hypoplasia of the musculature of the pelvis
tree view: Abnormality of the musculature of the pelvis
created by: peter
creation date: 2008-04-07T10:56:00Z
has db xref: UMLS:C4025766
has exact synonym: Absent/small pelvis muscles
has exact synonym: Absent/underdeveloped pelvis muscles
has OBO namespace: human_phenotype
id: HP:0001471
type: Class
subclass of: Abnormality of the musculature of the pelvis
notation: HP:0001471

obsolete Familial predisposition
IAO_0000231: IAO_0000227
IAO_0100001: Multifactorial inheritance
IAO_0100001: HP:0001426
has OBO namespace: human_phenotype
id: HP:0001472
type: Class
deprecated: true
notation: HP:0001472

Metatarsal osteolysis
tree view: Abnormal metatarsal morphology
tree view: HP_0009134
IAO_0000115: Osteolysis involving metatarsal bones.
created by: peter
creation date: 2008-04-17T02:38:00Z
has alternative id: HP:0001866
has db xref: UMLS:C1854614
has exact synonym: Osteolysis involving metatarsal bones
has OBO namespace: human_phenotype
id: HP:0001473
type: Class
subclass of: Abnormal metatarsal morphology
subclass of: HP_0009134
notation: HP:0001473

Sclerotic scapulae
tree view: Abnormality of the scapula
tree view: HP_0011001
IAO_0000115: Increased density of the bony tissue of the scapula.
has db xref: UMLS:C1849263
has OBO namespace: human_phenotype
id: HP:0001474
in subset: hposlim core
type: Class
subclass of: Abnormality of the scapula
subclass of: HP_0011001
notation: HP:0001474

Male-limited autosomal dominant
tree view: Sex-limited autosomal dominant
has db xref: UMLS:C4025764
has OBO namespace: human_phenotype
id: HP:0001475
type: Class
subclass of: Sex-limited autosomal dominant
notation: HP:0001475

Delayed closure of the anterior fontanelle
tree view: Abnormality of the anterior fontanelle
tree view: Delayed cranial suture closure
IAO_0000115: A delay in closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life.
has broad synonym: Delayed closure of the soft spot on the skull
has broad synonym: Late closure of soft spot on the skull
has db xref: SNOMEDCT_US:295091000119100
has db xref: UMLS:C3840083
has db xref: UMLS:C4072831
has exact synonym: Delayed closure anterior fontanel
has exact synonym: Delayed closure of anterior fontanelle
has exact synonym: Delayed closure of the bregma sutures
has exact synonym: Late closure of anterior fontanelle
has exact synonym: Late closure of large anterior fontanel
has exact synonym: Late closure of the bregma sutures
has exact synonym: Later than typical closing of soft spot of skull
has exact synonym: Persistent anterior fontanelle
has OBO namespace: human_phenotype
id: HP:0001476
type: Class
subclass of: Abnormality of the anterior fontanelle
subclass of: Delayed cranial suture closure
notation: HP:0001476

Compensatory chin elevation
tree view: HP_0031705
IAO_0000115: A tendency to hold the chin elevated by about 20 to 30 degrees to compensate for a limitation of eye movement.
has db xref: UMLS:C1846911
has exact synonym: Compensatory head tilt/chin elevation
has OBO namespace: human_phenotype
id: HP:0001477
type: Class
subclass of: HP_0031705
notation: HP:0001477

HP_0001478
IAO_0000231: IAO_0000227
IAO_0100001: Abnormality of the skin
type: Class
deprecated: true
notation: HP:0001478

HP_0001479
IAO_0000231: IAO_0000227
IAO_0100001: Abnormality of the skin
type: Class
deprecated: true
notation: HP:0001479

Freckling
tree view: Abnormality of skin pigmentation
IAO_0000115: The presence of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin.
has db xref: MSH:D008548
has db xref: SNOMEDCT_US:403536009
has db xref: SNOMEDCT_US:699225003
has db xref: UMLS:C0016689
has exact synonym: Freckling
has OBO namespace: human_phenotype
id: HP:0001480
type: Class
subclass of: Abnormality of skin pigmentation
notation: HP:0001480

HP_0001481
IAO_0000231: IAO_0000227
IAO_0100001: Eczema
type: Class
deprecated: true
notation: HP:0001481

Subcutaneous nodule
tree view: HP_0200036
IAO_0000115: Slightly elevated lesions on or in the skin with a diameter of over 5 mm.
has alternative id: HP:0005903
has broad synonym: Nodule below the skin
has db xref: SNOMEDCT_US:95325000
has db xref: UMLS:C0151811
has db xref: UMLS:C0746926
has exact synonym: Firm lump under the skin
has exact synonym: Growth of abnormal tissue under the skin
has OBO namespace: human_phenotype
has related synonym: Multiple, subcutaneous nodules
has related synonym: Subcutaneous nodules
id: HP:0001482
in subset: hposlim core
type: Class
comment: Subcutaneous nodules may move freely within the dermis or may be fixed to skin above or subcutaneous tissue below.
subclass of: HP_0200036
notation: HP:0001482

Eye poking
tree view: Stereotypy
IAO_0000115: Repetitive pressing, poking, and/or rubbing in the eyes.
has db xref: SNOMEDCT_US:78894008
has db xref: UMLS:C0233593
has OBO namespace: human_phenotype
id: HP:0001483
type: Class
comment: Eye poking is usually observed in children with an intellectual and visual handicap.
subclass of: Stereotypy
notation: HP:0001483

HP_0001484
IAO_0000231: IAO_0000227
IAO_0100001: Optic disc pallor
type: Class
deprecated: true
notation: HP:0001484

HP_0001485
IAO_0000231: IAO_0000227
IAO_0100001: Anophthalmia
type: Class
deprecated: true
notation: HP:0001485

HP_0001486
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009926
type: Class
deprecated: true
notation: HP:0001486

obsolete Hypopigmented fundi
IAO_0000231: IAO_0000227
IAO_0100001: HP_0007894
IAO_0100001: HP:0007894
has OBO namespace: human_phenotype
id: HP:0001487
type: Class
deprecated: true
notation: HP:0001487

Bilateral ptosis
tree view: Ptosis
has db xref: UMLS:C1865916
has exact synonym: Drooping of both upper eyelids
has OBO namespace: human_phenotype
id: HP:0001488
type: Class
subclass of: Ptosis
notation: HP:0001488

Posterior vitreous detachment
tree view: Abnormal vitreous humor morphology
IAO_0000115: Separation of the vitreous humor from the retina.
has db xref: MSH:D020255
has db xref: SNOMEDCT_US:247081001
has db xref: UMLS:C0423361
has exact synonym: Vitreous detachment
has OBO namespace: human_phenotype
id: HP:0001489
type: Class
comment: The vitreous humour is a transparent and colorless gel located between the retina and the lens. In posterior vitreous detachment (PVD), the vitreous membrane (which surrounds the vitreous humor) separates from the retina. This condition is common in individuals over 65 years of age but may occur in younger persons. PVD is often characterized by flashes of light and floaters, and may be complicated by retinal detachment.
subclass of: Abnormal vitreous humor morphology
notation: HP:0001489

HP_0001490
IAO_0000231: IAO_0000227
IAO_0100001: Subcapsular cataract
type: Class
deprecated: true
notation: HP:0001490

Congenital fibrosis of extraocular muscles
tree view: HP_0008049
IAO_0000115: Congenital non-progressive ophthalmoplegia with multiple extraocular muscle restrictions. Typically, there is ptosis and variable degrees of restriction of horizontal and vertical eye movements.
has db xref: MSH:C580012
has db xref: SNOMEDCT_US:400946004
has db xref: UMLS:C1302995
has exact synonym: CFEOM
has exact synonym: Congenital fibrosis of the extraocular muscles
has exact synonym: Congenital ophthalmoplegia
has OBO namespace: human_phenotype
id: HP:0001491
in subset: hposlim core
type: Class
subclass of: HP_0008049
notation: HP:0001491

Axenfeld anomaly
tree view: HP_0007700
IAO_0000115: Axenfeld's anomaly is a bilateral disorder characterized by a prominent, anteriorly displaced Schwalbe's line (posterior embryotoxon) and peripheral iris strands which span the anterior chamber angle to attach to Schwalbe's line.
has db xref: MSH:C535679
has db xref: SNOMEDCT_US:204152008
has db xref: UMLS:C0266548
has OBO namespace: human_phenotype
id: HP:0001492
in subset: hposlim core
type: Class
subclass of: HP_0007700
notation: HP:0001492

Falciform retinal fold
tree view: HP_0008052
IAO_0000115: An area of the retina that is buckled so that a sector-shaped sheet of retina lies in front of the normal retina. This feature is of congenital onset.
has alternative id: HP:0008013
has db xref: SNOMEDCT_US:204181009
has db xref: UMLS:C0344550
has exact synonym: Congenital retinal fold
has OBO namespace: human_phenotype
id: HP:0001493
type: Class
subclass of: HP_0008052
notation: HP:0001493

HP_0001494
IAO_0000231: IAO_0000227
IAO_0100001: HP_0012048
type: Class
deprecated: true
notation: HP:0001494

Carpal osteolysis
tree view: Abnormality of the carpal bones
tree view: HP_0045039
IAO_0000115: Osteolysis affecting carpal bones.
has db xref: UMLS:C1833734
has exact synonym: Carpal bone osteolysis
has OBO namespace: human_phenotype
id: HP:0001495
in subset: hposlim core
type: Class
subclass of: Abnormality of the carpal bones
subclass of: HP_0045039
notation: HP:0001495

HP_0001496
IAO_0000231: IAO_0000227
IAO_0100001: HP_0006159
type: Class
deprecated: true
notation: HP:0001496

HP_0001497
IAO_0000231: IAO_0000227
IAO_0100001: Broad finger
type: Class
deprecated: true
notation: HP:0001497

Carpal bone hypoplasia
tree view: HP_0006502
IAO_0000115: Underdevelopment of one or more carpal bones.
has alternative id: HP:0001209
has alternative id: HP:0006029
has alternative id: HP:0006072
has alternative id: HP:0006117
has alternative id: HP:0006130
has alternative id: HP:0006227
has broad synonym: Small wrist bones
has db xref: UMLS:C1863749
has db xref: UMLS:C4280594
has exact synonym: Hypoplasia of carpal bones
has exact synonym: Hypoplastic carpal bones
has exact synonym: Small carpal bones
has exact synonym: Small carpals
has OBO namespace: human_phenotype
id: HP:0001498
in subset: hposlim core
type: Class
subclass of: HP_0006502
notation: HP:0001498

HP_0001499
IAO_0000231: IAO_0000227
IAO_0100001: HP_0010034
type: Class
deprecated: true
notation: HP:0001499

Broad finger
tree view: Abnormality of finger
IAO_0000115: Increased width of a non-thumb digit of the hand.
has alternative id: HP:0001497
has db xref: UMLS:C1844906
has exact synonym: Broad finger
has exact synonym: Broad fingers
has exact synonym: Wide fingers
has OBO namespace: human_phenotype
id: HP:0001500
in subset: hposlim core
type: Class
comment: Note that the girth may be increased in a broad finger, but this must be distinguished from Macrodactyly, because there the length is also increased. This distinction can be subtle. This term should not be used when the increased width is limited to the distal phalanges, instead use Broad fingertips. The affected digit should be specified by the numbering scheme in the introduction. This term is not used for the first digit, see Broad thumbs. When a thumb and one or more fingers are affected, it may be more economical to specify "Broad fingers, F1-5" instead of separately specifying "Broad thumb" and "Broad fingers F2-5".
subclass of: Abnormality of finger
notation: HP:0001500

6 metacarpals
tree view: HP_0005917
has db xref: UMLS:C1861360
has exact synonym: 6 long bones of hand
has OBO namespace: human_phenotype
id: HP:0001501
type: Class
subclass of: HP_0005917
notation: HP:0001501

HP_0001502
IAO_0000231: IAO_0000227
IAO_0100001: HP_0011302
type: Class
deprecated: true
notation: HP:0001502

HP_0001503
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009466
type: Class
deprecated: true
notation: HP:0001503

Metacarpal osteolysis
tree view: Abnormality of the metacarpal bones
tree view: HP_0045039
has db xref: UMLS:C1854610
has exact synonym: Metacarpals osteolysis
has OBO namespace: human_phenotype
id: HP:0001504
type: Class
subclass of: Abnormality of the metacarpal bones
subclass of: HP_0045039
notation: HP:0001504

HP_0001505
IAO_0000231: IAO_0000227
IAO_0100001: Arachnodactyly
type: Class
deprecated: true
notation: HP:0001505

HP_0001506
IAO_0000231: IAO_0000227
IAO_0100001: Mitochondrial inheritance
type: Class
deprecated: true
notation: HP:0001506

Growth abnormality
tree view: Phenotypic abnormality
has alternative id: HP:0008904
has db xref: UMLS:C0262361
has exact synonym: Abnormal growth
has exact synonym: Growth abnormality
has exact synonym: Growth issue
has OBO namespace: human_phenotype
id: HP:0001507
type: Class
subclass of: Phenotypic abnormality
notation: HP:0001507

Failure to thrive
tree view: Decreased body weight
IAO_0000115: Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
has alternative id: HP:0001535
has alternative id: HP:0008853
has alternative id: HP:0008878
has alternative id: HP:0008916
has broad synonym: Undergrowth
has db xref: SNOMEDCT_US:36440009
has db xref: SNOMEDCT_US:432788009
has db xref: UMLS:C0231246
has db xref: UMLS:C2315100
has exact synonym: Faltering weight
has exact synonym: Postnatal failure to thrive
has exact synonym: Weight faltering
has OBO namespace: human_phenotype
has related synonym: Poor weight gain
id: HP:0001508
type: Class
comment: Although there is no clear consensus on the exact definition of FTT, it is usually diagnoses in a child growing below the 3rd percentile or in a child whose decreased growth has cross two major growth percentiles (for example, from above the 75th percentile to below the 25th percentile).
subclass of: Decreased body weight
notation: HP:0001508

HP_0001509
IAO_0000231: IAO_0000227
IAO_0100001: Short stature
type: Class
deprecated: true
notation: HP:0001509

Growth delay
tree view: Growth abnormality
IAO_0000115: A deficiency or slowing down of growth pre- and postnatally.
has alternative id: HP:0001434
has alternative id: HP:0001512
has alternative id: HP:0001514
has alternative id: HP:0001517
has alternative id: HP:0001532
has alternative id: HP:0008847
has alternative id: HP:0008870
has alternative id: HP:0008886
has alternative id: HP:0008893
has alternative id: HP:0008926
has db xref: SNOMEDCT_US:276617005
has db xref: SNOMEDCT_US:444896005
has db xref: SNOMEDCT_US:59576002
has db xref: UMLS:C0151686
has db xref: UMLS:C0456070
has db xref: UMLS:C0878787
has db xref: UMLS:C1837385
has db xref: UMLS:C3552463
has exact synonym: Delayed growth
has exact synonym: Growth deficiency
has exact synonym: Growth delay
has exact synonym: Growth failure
has exact synonym: Growth retardation
has exact synonym: Poor growth
has exact synonym: Retarded growth
has OBO namespace: human_phenotype
has related synonym: Very poor growth
id: HP:0001510
type: Class
comment: Poor or abnormally slow gains in weight or height in a child.
subclass of: Growth abnormality
notation: HP:0001510

Intrauterine growth retardation
tree view: Growth delay
IAO_0000115: An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.
has alternative id: HP:0001515
has alternative id: HP:0008862
has alternative id: HP:0008892
has alternative id: HP:0008931
has db xref: MSH:D005317
has db xref: MSH:D007236
has db xref: SNOMEDCT_US:199612005
has db xref: SNOMEDCT_US:22033007
has db xref: UMLS:C0015934
has db xref: UMLS:C0021296
has db xref: UMLS:C1386048
has exact synonym: IUGR
has exact synonym: In utero growth retardation
has exact synonym: Intrauterine growth failure
has exact synonym: Intrauterine growth restriction
has exact synonym: Intrauterine growth retardation, IUGR
has exact synonym: Intrauterine retardation
has exact synonym: Prenatal growth deficiency
has exact synonym: Prenatal growth failure
has exact synonym: Prenatal growth retardation
has exact synonym: Prenatal onset growth retardation
has exact synonym: Prenatal-onset growth retardation
has exact synonym: Small for gestational age infant
has OBO namespace: human_phenotype
id: HP:0001511
type: Class
comment: Intrauterine growth restriction is a newer term that is preferred over Intrauterine growth retardation. The causes of IUGR include maternal abnormalities (chronic hypertension, cyanotic heart disease, smoking, drug abuse), placental or umbilical cord abnormalities (including placenta previa and cord anomalies), maternal medicationas, and genetic disorders of the fetus.
subclass of: Growth delay
notation: HP:0001511

HP_0001512
IAO_0000231: IAO_0000227
IAO_0100001: Growth delay
type: Class
deprecated: true
notation: HP:0001512

Obesity
tree view: Increased body weight
IAO_0000115: Accumulation of substantial excess body fat.
has db xref: MSH:D009765
has db xref: SNOMEDCT_US:414915002
has db xref: SNOMEDCT_US:414916001
has db xref: UMLS:C0028754
has exact synonym: Having too much body fat
has exact synonym: Obesity
has OBO namespace: human_phenotype
id: HP:0001513
type: Class
subclass of: Increased body weight
notation: HP:0001513

HP_0001514
IAO_0000231: IAO_0000227
IAO_0100001: Growth delay
type: Class
deprecated: true
notation: HP:0001514

HP_0001515
IAO_0000231: IAO_0000227
IAO_0100001: Intrauterine growth retardation
type: Class
deprecated: true
notation: HP:0001515

HP_0001516
IAO_0000231: IAO_0000227
IAO_0100001: Severe short stature
type: Class
deprecated: true
notation: HP:0001516

HP_0001517
IAO_0000231: IAO_0000227
IAO_0100001: Growth delay
type: Class
deprecated: true
notation: HP:0001517

Small for gestational age
tree view: Decreased body weight
IAO_0000115: Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age.
has alternative id: HP:0001422
has alternative id: HP:0008849
has alternative id: HP:0008919
has alternative id: HP:0008927
has db xref: MSH:D007230
has db xref: SNOMEDCT_US:267258002
has db xref: SNOMEDCT_US:276610007
has db xref: UMLS:C0024032
has db xref: UMLS:C0235991
has exact synonym: Birth weight less than 10th percentile
has exact synonym: Low birth weight
has exact synonym: Small for gestational age
has OBO namespace: human_phenotype
id: HP:0001518
type: Class
subclass of: Decreased body weight
notation: HP:0001518

Disproportionate tall stature
tree view: Tall stature
IAO_0000115: A tall and slim body build with increased arm span to height ratio (>1.05) and a reduced upper-to-lower segment ratio (<0.85), i.e., unusually long arms and legs. The extremities as well as the hands and feet are unusually slim.
has alternative id: HP:0003511
has alternative id: HP:0008864
has db xref: MSH:D054119
has db xref: SNOMEDCT_US:62250003
has db xref: UMLS:C0003706
has db xref: UMLS:C1836996
has exact synonym: Dolichostenomelia
has exact synonym: Marfanoid body habitus
has exact synonym: Marfanoid habitus
has exact synonym: Reduced upper-lower segment ratio
has OBO namespace: human_phenotype
id: HP:0001519
type: Class
subclass of: Tall stature
notation: HP:0001519

Large for gestational age
tree view: Increased body weight
IAO_0000115: The term large for gestational age applies to babies whose birth weight lies above the 90th percentile for that gestational age.
has alternative id: HP:0001825
has db xref: UMLS:C1848395
has exact synonym: Birth weight > 90th percentile
has exact synonym: Birthweight > 90th percentile
has exact synonym: Fetal macrosomia
has exact synonym: Macrosomia
has exact synonym: Macrosomia, neonatal
has OBO namespace: human_phenotype
id: HP:0001520
type: Class
comment: Fetal macrosomia has been defined in several different ways, including birth weight of 4000-4500 g (8 lb 13 oz to 9 lb 15 oz) or greater than 90% for gestational age after correcting for neonatal sex and ethnicity. Based on these definitions, macrosomia affects 1-10% of all pregnancies. A diagnosis of fetal macrosomia can be made only by measuring birth weight after delivery; therefore, the condition is confirmed only retrospectively, ie, after delivery of the neonate.
subclass of: Increased body weight
notation: HP:0001520

HP_0001521
IAO_0000231: IAO_0000227
IAO_0100001: HP_0008850
type: Class
deprecated: true
notation: HP:0001521

Death in infancy
tree view: HP_0011420
IAO_0000115: Death within the first 24 months of life.
has alternative id: HP:0003816
has alternative id: HP:0003817
has alternative id: HP:0003818
has alternative id: HP:0003823
has alternative id: HP:0003827
has db xref: UMLS:C1844947
has db xref: UMLS:C1858430
has exact synonym: Death in infancy
has exact synonym: Infantile death
has exact synonym: Lethal in infancy
has OBO namespace: human_phenotype
has related synonym: Death in early childhood
id: HP:0001522
type: Class
subclass of: HP_0011420
notation: HP:0001522

HP_0001523
IAO_0000231: IAO_0000227
IAO_0100001: HP_0008873
type: Class
deprecated: true
notation: HP:0001523

HP_0001524
IAO_0000231: IAO_0000227
IAO_0100001: Disproportionate short-trunk short stature
type: Class
deprecated: true
notation: HP:0001524

Severe failure to thrive
tree view: Failure to thrive
has alternative id: HP:0008876
has db xref: UMLS:C1855514
has exact synonym: Marked failure to thrive
has exact synonym: Severe faltering weight
has exact synonym: Severe postnatal failure to thrive
has exact synonym: Severe weight faltering
has OBO namespace: human_phenotype
id: HP:0001525
type: Class
subclass of: Failure to thrive
notation: HP:0001525

HP_0001526
IAO_0000231: IAO_0000227
IAO_0100001: Autosomal recessive inheritance
type: Class
deprecated: true
notation: HP:0001526

HP_0001527
IAO_0000231: IAO_0000227
IAO_0100001: Tall stature
type: Class
deprecated: true
notation: HP:0001527

Hemihypertrophy
tree view: HP_0040064
tree view: HP_0100555
IAO_0000115: Overgrowth of only one side of the body.
has alternative id: HP:0006416
has db xref: SNOMEDCT_US:205838004
has db xref: SNOMEDCT_US:56007004
has db xref: UMLS:C0332890
has exact synonym: Asymmetric limb hypertrophy
has exact synonym: Asymmetric overgrowth
has OBO namespace: human_phenotype
id: HP:0001528
type: Class
subclass of: HP_0040064
subclass of: HP_0100555
notation: HP:0001528

HP_0001529
IAO_0000231: IAO_0000227
IAO_0100001: Slender build
type: Class
deprecated: true
notation: HP:0001529

Mild postnatal growth retardation
tree view: HP_0008897
IAO_0000115: A mild degree of slow or limited growth after birth, being between two and three standard deviations below age- and sex-related norms.
has alternative id: HP:0008860
has alternative id: HP:0008917
has db xref: UMLS:C1835580
has db xref: UMLS:C3550204
has exact synonym: Postnatal onset of mild growth retardation
has OBO namespace: human_phenotype
has related synonym: Mild growth deficiency
id: HP:0001530
type: Class
subclass of: HP_0008897
notation: HP:0001530

Failure to thrive in infancy
tree view: Failure to thrive
has alternative id: HP:0008863
has alternative id: HP:0008925
has db xref: UMLS:C1867873
has exact synonym: Failure to thrive in first year of life
has exact synonym: Faltering weight in infancy
has exact synonym: Weight faltering in infancy
has OBO namespace: human_phenotype
id: HP:0001531
type: Class
subclass of: Failure to thrive
notation: HP:0001531

HP_0001532
IAO_0000231: IAO_0000227
IAO_0100001: Growth delay
type: Class
deprecated: true
notation: HP:0001532

Slender build
tree view: Tall stature
tree view: Decreased body weight
IAO_0000115: Asthenic habitus refers to a slender build with long limbs, an angular profile, and prominent muscles or bones.
has alternative id: HP:0001529
has db xref: UMLS:C1850573
has exact synonym: Asthenic habitus
has exact synonym: Slender build
has exact synonym: Thin body habitus
has exact synonym: Thin build
has OBO namespace: human_phenotype
id: HP:0001533
type: Class
comment: Slender, long-limbed habitus.
subclass of: Tall stature
subclass of: Decreased body weight
notation: HP:0001533

HP_0001534
IAO_0000231: IAO_0000227
IAO_0100001: Genital tract atresia
type: Class
deprecated: true
notation: HP:0001534

HP_0001535
IAO_0000231: IAO_0000227
IAO_0100001: Failure to thrive
type: Class
deprecated: true
notation: HP:0001535

HP_0001536
IAO_0000231: IAO_0000227
IAO_0100001: HP_0008921
type: Class
deprecated: true
notation: HP:0001536

Umbilical hernia
tree view: Abnormal umbilicus morphology
tree view: Hernia of the abdominal wall
IAO_0000115: Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.
has db xref: Fyler:4445
has db xref: SNOMEDCT_US:396347007
has db xref: UMLS:C0019322
has exact synonym: Umbilical hernias
has OBO namespace: human_phenotype
id: HP:0001537
in subset: hposlim core
type: Class
subclass of: Abnormal umbilicus morphology
subclass of: Hernia of the abdominal wall
notation: HP:0001537

Protuberant abdomen
tree view: Abdominal distention
IAO_0000115: A thrusting or bulging out of the abdomen.
has db xref: UMLS:C1854928
has exact synonym: Abdominal protuberance
has exact synonym: Belly sticks out
has exact synonym: Extended belly
has OBO namespace: human_phenotype
id: HP:0001538
type: Class
subclass of: Abdominal distention
notation: HP:0001538

Omphalocele
tree view: Hernia of the abdominal wall
IAO_0000115: A midline anterior incomplete closure of the abdominal wall in which there is herniation of the abdominal viscera into the base of the abdominal cord.
has db xref: Fyler:4404
has db xref: MEDDRA:10030309
has db xref: MSH:D006554
has db xref: SNOMEDCT_US:18735004
has db xref: UMLS:C0795690
has exact synonym: Omphalocoele
has OBO namespace: human_phenotype
id: HP:0001539
in subset: hposlim core
type: Class
subclass of: Hernia of the abdominal wall
notation: HP:0001539

Diastasis recti
tree view: HP_0010991
IAO_0000115: A separation of the rectus abdominis muscle into right and left halves (which are normally joined at the midline at the linea alba).
has db xref: SNOMEDCT_US:62629000
has db xref: UMLS:C0221766
has exact synonym: Gap between large left and right abdominal muscles
has OBO namespace: human_phenotype
id: HP:0001540
in subset: hposlim core
type: Class
comment: Diastasis recti looks like a ridge, which runs down the middle of the abdomen and increases with muscle straining. Diastasis recti is not uncommon in pregnant women and is common and normal in newborns.
subclass of: HP_0010991
notation: HP:0001540

Ascites
tree view: Abnormality of abdomen morphology
IAO_0000115: Accumulation of fluid in the peritoneal cavity.
has db xref: MSH:D001201
has db xref: SNOMEDCT_US:389026000
has db xref: UMLS:C0003962
has exact synonym: Accumulation of fluid in the abdomen
has OBO namespace: human_phenotype
id: HP:0001541
in subset: hposlim core
type: Class
comment: Ascites is commonly associated with liver disease that has resulted in portal hypertension and low serum albumin levels.
subclass of: Abnormality of abdomen morphology
notation: HP:0001541

HP_0001542
IAO_0000231: IAO_0000227
IAO_0100001: Abdominal distention
type: Class
deprecated: true
notation: HP:0001542

Gastroschisis
tree view: HP_0010866
IAO_0000115: A type of congenital ventral incomplete closure of the abdominal wall in which the intestines and sometimes other organs extend freely into the amniotic fluid space through a small opening in the abdomen, usually to the right of the umbilicus.
has db xref: MEDDRA:10018046
has db xref: MSH:D020139
has db xref: SNOMEDCT_US:72951007
has db xref: UMLS:C0265706
has OBO namespace: human_phenotype
id: HP:0001543
in subset: hposlim core
type: Class
subclass of: HP_0010866
notation: HP:0001543

Prominent umbilicus
tree view: Abnormal umbilicus morphology
IAO_0000115: Abnormally prominent umbilicus (belly button).
has db xref: UMLS:C1837795
has exact synonym: Prominent belly button
has exact synonym: Prominent navel
has OBO namespace: human_phenotype
id: HP:0001544
type: Class
subclass of: Abnormal umbilicus morphology
notation: HP:0001544

Anteriorly placed anus
tree view: Ectopic anus
IAO_0000115: Anterior malposition of the anus.
has db xref: UMLS:C1838705
has exact synonym: Anteriorly displaced anus
has exact synonym: Anus anteposition
has OBO namespace: human_phenotype
id: HP:0001545
in subset: hposlim core
type: Class
subclass of: Ectopic anus
notation: HP:0001545

HP_0001546
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009023
type: Class
deprecated: true
notation: HP:0001546

Abnormality of the rib cage
tree view: Abnormality of the thorax
IAO_0000115: A morphological anomaly of the rib cage.
has db xref: UMLS:C4025763
has exact synonym: Abnormality of the rib cage
has OBO namespace: human_phenotype
id: HP:0001547
type: Class
subclass of: Abnormality of the thorax
notation: HP:0001547

Overgrowth
tree view: Tall stature
IAO_0000115: Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference.
has db xref: UMLS:C1849265
has db xref: UMLS:C1851731
has db xref: UMLS:C3150281
has exact synonym: General overgrowth
has OBO namespace: human_phenotype
has related synonym: Fetal overgrowth
has related synonym: Generalized overgrowth
id: HP:0001548
type: Class
subclass of: Tall stature
notation: HP:0001548

Abnormal ileum morphology
tree view: Abnormality of the small intestine
created by: peter
creation date: 2008-02-20T11:05:00Z
has db xref: UMLS:C4025762
has exact synonym: Abnormality of the ileum
has OBO namespace: human_phenotype
id: HP:0001549
type: Class
subclass of: Abnormality of the small intestine
notation: HP:0001549

HP_0001550
IAO_0000231: IAO_0000227
IAO_0100001: Anal atresia
type: Class
deprecated: true
notation: HP:0001550

Abnormal umbilicus morphology
tree view: Abnormality of the abdominal wall
IAO_0000115: An abnormality of the structure or appearance of the umbilicus.
has db xref: UMLS:C1849338
has exact synonym: Abnormal belly button
has exact synonym: Abnormal navel
has exact synonym: Abnormal umbilicus
has OBO namespace: human_phenotype
id: HP:0001551
type: Class
comment: The umbilicus is also known as the belly button or the navel.
subclass of: Abnormality of the abdominal wall
notation: HP:0001551

Barrel-shaped chest
tree view: HP_0100625
IAO_0000115: A rounded, bulging chest that resembles the shape of a barrel. That is, there is an increased anteroposterior diameter and usually some degree of kyphosis.
has alternative id: HP:0000781
has alternative id: HP:0001553
has db xref: SNOMEDCT_US:24228002
has db xref: UMLS:C0264172
has exact synonym: Barrel chest
has exact synonym: Barrel-shaped chest
has OBO namespace: human_phenotype
id: HP:0001552
in subset: hposlim core
type: Class
comment: Barrel chest is often seen in persons with pulmonary emphysema or chronic obstructive pulmonary disease.
subclass of: HP_0100625
notation: HP:0001552

HP_0001553
IAO_0000231: IAO_0000227
IAO_0100001: Barrel-shaped chest
type: Class
deprecated: true
notation: HP:0001553

HP_0001554
IAO_0000231: IAO_0000227
IAO_0100001: HP_0006610
type: Class
deprecated: true
notation: HP:0001554

Asymmetry of the thorax
tree view: Abnormality of the rib cage
IAO_0000115: Lack of symmetry between the left and right halves of the thorax.
has db xref: UMLS:C1858033
has exact synonym: Asymmetric chest
has OBO namespace: human_phenotype
id: HP:0001555
in subset: hposlim core
type: Class
subclass of: Abnormality of the rib cage
notation: HP:0001555

HP_0001556
IAO_0000231: IAO_0000227
IAO_0100001: HP_0200021
type: Class
deprecated: true
notation: HP:0001556

Prenatal movement abnormality
tree view: Abnormality of prenatal development or birth
IAO_0000115: An abnormality of fetal movement.
has alternative id: HP:0007629
has db xref: UMLS:C1849510
has exact synonym: Abnormal intrauterine movements
has OBO namespace: human_phenotype
id: HP:0001557
type: Class
comment: Fetal movements generally become apparent during the second trimester of pregnancy around the 20th week but occasionally up to the 25th week. The initiation of perceptible fetal movements is referred to as 'quickening'.
subclass of: Abnormality of prenatal development or birth
notation: HP:0001557

Decreased fetal movement
tree view: Prenatal movement abnormality
IAO_0000115: An abnormal reduction in quantity or strength of fetal movements.
has alternative id: HP:0001559
has alternative id: HP:0006840
has alternative id: HP:0007630
has alternative id: HP:0007631
has db xref: SNOMEDCT_US:276369006
has db xref: UMLS:C0235659
has exact synonym: Decreased fetal activity
has exact synonym: Decreased fetal movements
has exact synonym: Decreased movement in utero
has exact synonym: Fetal hypokinesia
has exact synonym: Less than 10 fetal movements in 12 hours
has exact synonym: Reduced fetal movement
has exact synonym: Reduced fetal movements
has OBO namespace: human_phenotype
id: HP:0001558
type: Class
subclass of: Prenatal movement abnormality
notation: HP:0001558

HP_0001559
IAO_0000231: IAO_0000227
IAO_0100001: Decreased fetal movement
type: Class
deprecated: true
notation: HP:0001559

Abnormality of the amniotic fluid
tree view: Abnormality of prenatal development or birth
IAO_0000115: Abnormality of the amniotic fluid, which is the fluid contained in the amniotic sac surrounding the developing fetus.
has db xref: SNOMEDCT_US:42170009
has db xref: UMLS:C0266781
has exact synonym: Abnormal amniotic fluid
has OBO namespace: human_phenotype
id: HP:0001560
type: Class
subclass of: Abnormality of prenatal development or birth
notation: HP:0001560

Polyhydramnios
tree view: Abnormality of the amniotic fluid
IAO_0000115: The presence of excess amniotic fluid in the uterus during pregnancy.
has alternative id: HP:0005098
has db xref: MSH:D006831
has db xref: SNOMEDCT_US:86203003
has db xref: UMLS:C0020224
has exact synonym: High levels of amniotic fluid
has exact synonym: Hydramnios
has OBO namespace: human_phenotype
id: HP:0001561
type: Class
comment: Polyhydramnios is diagnosed if the deepest vertical pool of amniotic fluid is more than 8 cm or amniotic fluid index is more than 95th percentile for the corresponding gestational age.
subclass of: Abnormality of the amniotic fluid
notation: HP:0001561

Oligohydramnios
tree view: Abnormality of the amniotic fluid
IAO_0000115: Diminished amniotic fluid volume in pregnancy.
has alternative id: HP:0004638
has db xref: MSH:D016104
has db xref: SNOMEDCT_US:59566000
has db xref: UMLS:C0079924
has db xref: UMLS:C3550658
has exact synonym: Low levels of amniotic fluid
has exact synonym: Maternal oligohydramnios
has OBO namespace: human_phenotype
id: HP:0001562
type: Class
comment: Oligohydramnios is the opposite of polyhydramnios. In normal pregnancy the amniotic fluid volume increases by about 10 ml/day until the 34th, after which it slowly diminishes. A normal amniotic fluid volume at term is about 500-2,000 ml. Oligohydramnios is defined as an AFI (amniotic fluid index) less than 5 cm or smallest vertical pocket of fluid less than 2 cm.
subclass of: Abnormality of the amniotic fluid
notation: HP:0001562

Fetal polyuria
tree view: Abnormality of the amniotic fluid
IAO_0000115: Abnormally increased production of urine by the fetus resulting in polyhydramnios.
has db xref: UMLS:C1865279
has OBO namespace: human_phenotype
id: HP:0001563
type: Class
comment: The fetal urine production rate can be measured by ultrasonography.
subclass of: Abnormality of the amniotic fluid
notation: HP:0001563

HP_0001564
IAO_0000231: IAO_0000227
IAO_0100001: HP_0006480
type: Class
deprecated: true
notation: HP:0001564

HP_0001565
IAO_0000231: IAO_0000227
IAO_0100001: HP_0006297
type: Class
deprecated: true
notation: HP:0001565

Widely-spaced maxillary central incisors
tree view: HP_0006304
IAO_0000115: Increased distance between the maxillary central permanent incisor tooth.
has alternative id: HP:0000669
has alternative id: HP:0001570
has alternative id: HP:0006300
has alternative id: HP:0006324
has broad synonym: Central incisor gap
has db xref: UMLS:C1835762
has db xref: UMLS:C1845110
has db xref: UMLS:C4280252
has exact synonym: Diastasis of the central incisors
has exact synonym: Gap between upper front teeth
has exact synonym: Separated superior central incisors
has exact synonym: Wide gap between upper central incisors
has exact synonym: Wide upper central incisors
has exact synonym: Widely spaced upper incisors
has narrow synonym: Diastema between maxillary central incisors
has narrow synonym: Diastema between upper front teeth
has narrow synonym: Diastema between upper incisors
has OBO namespace: human_phenotype
id: HP:0001566
type: Class
subclass of: HP_0006304
notation: HP:0001566

HP_0001567
IAO_0000231: IAO_0000227
IAO_0100001: Abnormality of the dentition
type: Class
deprecated: true
notation: HP:0001567

HP_0001568
IAO_0000231: IAO_0000227
IAO_0100001: HP_0006315
type: Class
deprecated: true
notation: HP:0001568

HP_0001569
IAO_0000231: IAO_0000227
IAO_0100001: Misalignment of teeth
type: Class
deprecated: true
notation: HP:0001569

HP_0001570
IAO_0000231: IAO_0000227
IAO_0100001: Widely-spaced maxillary central incisors
type: Class
deprecated: true
notation: HP:0001570

Multiple impacted teeth
tree view: HP_0011079
IAO_0000115: The presence of multiple impacted teeth.
has broad synonym: Multiple buried teeth
has broad synonym: Multiple retained teeth
has db xref: UMLS:C1839965
has db xref: UMLS:C4280593
has exact synonym: Impacted teeth
has exact synonym: Multiple impacted teeth
has OBO namespace: human_phenotype
id: HP:0001571
type: Class
subclass of: HP_0011079
notation: HP:0001571

Macrodontia
tree view: HP_0006482
IAO_0000115: Increased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD above mean for age. Alternatively, an apparently increased maximum width of the tooth.
has broad synonym: Hyperplasia of tooth
has broad synonym: Hypertrophy of tooth
has broad synonym: Increased size of tooth
has broad synonym: Large tooth
has db xref: SNOMEDCT_US:71485000
has db xref: UMLS:C0266036
has db xref: UMLS:C4280590
has db xref: UMLS:C4280591
has db xref: UMLS:C4280592
has exact synonym: Increased width of tooth
has exact synonym: Large teeth
has OBO namespace: human_phenotype
has related synonym: Tooth mass excess
id: HP:0001572
in subset: hposlim core
type: Class
comment: The standard reference has means and standard deviations by gender [Moyers et al, 1976]. Although it is easy to measure the width of teeth, and the definition is made with reference to the width of teeth, macrodontia actually means that the overall size of the tooth is increased.
subclass of: HP_0006482
notation: HP:0001572

HP_0001573
IAO_0000231: IAO_0000227
IAO_0100001: HP_0006315
type: Class
deprecated: true
notation: HP:0001573

Abnormality of the integument
tree view: Phenotypic abnormality
IAO_0000115: An abnormality of the integument, which consists of the skin and the superficial fascia.
has db xref: UMLS:C4025761
has OBO namespace: human_phenotype
id: HP:0001574
type: Class
comment: Abnormality of skin, hair, or nails.
subclass of: Phenotypic abnormality
notation: HP:0001574

Mood changes
tree view: HP_0100851
has db xref: SNOMEDCT_US:18963009
has db xref: UMLS:C0085633
has exact synonym: Mood alterations
has exact synonym: Moody
has OBO namespace: human_phenotype
id: HP:0001575
type: Class
subclass of: HP_0100851
notation: HP:0001575

HP_0001576
IAO_0000231: IAO_0000227
IAO_0100001: HP_0007018
type: Class
deprecated: true
notation: HP:0001576

HP_0001577
IAO_0000231: IAO_0000227
IAO_0100001: HP_0007018
type: Class
deprecated: true
notation: HP:0001577

HP_0001578
IAO_0000231: IAO_0000227
IAO_0100001: Increased circulating cortisol level
type: Class
deprecated: true
notation: HP:0001578

Primary hypercortisolism
tree view: Increased circulating cortisol level
IAO_0000115: Hypercortisolemia associated with a primary defect of the adrenal gland leading to overproduction of cortisol.
has db xref: UMLS:C1968852
has db xref: UMLS:C4025760
has OBO namespace: human_phenotype
has related synonym: ACTH-independent hypercortisolemia
id: HP:0001579
type: Class
subclass of: Increased circulating cortisol level
notation: HP:0001579

Pigmented micronodular adrenocortical disease
tree view: Adrenocortical abnormality
has db xref: UMLS:C1968851
has OBO namespace: human_phenotype
id: HP:0001580
type: Class
subclass of: Adrenocortical abnormality
notation: HP:0001580

Recurrent skin infections
tree view: HP_0011123
IAO_0000115: Infections of the skin that happen multiple times.
has alternative id: HP:0007563
has db xref: UMLS:C1853193
has exact synonym: Cutaneous infections
has exact synonym: Recurrent skin infections
has exact synonym: Skin infections
has exact synonym: Skin infections, recurrent
has OBO namespace: human_phenotype
id: HP:0001581
type: Class
subclass of: HP_0011123
notation: HP:0001581

Redundant skin
tree view: Cutis laxa
IAO_0000115: Loose and sagging skin often associated with loss of skin elasticity.
has alternative id: HP:0007391
has db xref: SNOMEDCT_US:201093004
has db xref: UMLS:C0581342
has exact synonym: Loose redundant skin
has exact synonym: Redundant skin folds
has exact synonym: Sagging, redundant skin
has OBO namespace: human_phenotype
id: HP:0001582
type: Class
subclass of: Cutis laxa
notation: HP:0001582

Rotary nystagmus
tree view: Nystagmus
IAO_0000115: A form of nystagmus in which the eyeball makes rotary motions around the axis.
has db xref: MSH:D009759
has db xref: SNOMEDCT_US:44526006
has db xref: SNOMEDCT_US:95783006
has db xref: UMLS:C0240595
has exact synonym: Rotatory Nystagmus
has OBO namespace: human_phenotype
id: HP:0001583
in subset: hposlim core
type: Class
subclass of: Nystagmus
notation: HP:0001583

HP_0001584
IAO_0000231: IAO_0000227
IAO_0100001: Highly arched eyebrow
type: Class
deprecated: true
notation: HP:0001584

HP_0001585
IAO_0000231: IAO_0000227
IAO_0100001: HP_0007633
type: Class
deprecated: true
notation: HP:0001585

Vesicovaginal fistula
tree view: Vaginal fistula
tree view: Bladder fistula
IAO_0000115: The presence of a fistula connecting the urinary bladder to the vagina.
has db xref: MSH:D014719
has db xref: SNOMEDCT_US:89405008
has db xref: UMLS:C0042582
has OBO namespace: human_phenotype
id: HP:0001586
type: Class
subclass of: Vaginal fistula
subclass of: Bladder fistula
notation: HP:0001586

obsolete Primary ovarian failure
IAO_0000231: IAO_0000227
IAO_0100001: HP_0008209
has OBO namespace: human_phenotype
id: HP:0001587
type: Class
deprecated: true
notation: HP:0001587

HP_0001588
IAO_0000231: IAO_0000227
IAO_0100001: Clinodactyly of the 5th finger
type: Class
deprecated: true
notation: HP:0001588

HP_0001589
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009778
type: Class
deprecated: true
notation: HP:0001589

HP_0001590
IAO_0000231: IAO_0000227
IAO_0100001: HP_0005257
type: Class
deprecated: true
notation: HP:0001590

Bell-shaped thorax
tree view: Abnormality of the rib cage
IAO_0000115: The rib cage has the shape of a wide mouthed bell. That is, the superior portion of the rib cage is constricted, followed by a convex region, and the inferior portion of the rib cage expands again to have a large diameter.
has alternative id: HP:0006626
has alternative id: HP:0006664
has db xref: UMLS:C1865186
has exact synonym: Bell-shaped chest
has exact synonym: Constricted, bell-shaped thorax
has exact synonym: Narrow, bell-shaped thorax
has OBO namespace: human_phenotype
id: HP:0001591
in subset: hposlim core
type: Class
comment: A bell-shaped thorax is a non-specific finding. In newborns, bell-spahed thorax can indicate a history of intrauterine neuromuscular abnormalities.
subclass of: Abnormality of the rib cage
notation: HP:0001591

Selective tooth agenesis
tree view: HP_0009804
IAO_0000115: Agenesis specifically affecting one of the classes incisor, premolar, or molar.
has db xref: UMLS:C1970308
has db xref: UMLS:C4280251
has exact synonym: Agenesis of a tooth
has exact synonym: Failure of development of a tooth
has OBO namespace: human_phenotype
has related synonym: Absence of a tooth
has related synonym: Missing a tooth
id: HP:0001592
type: Class
subclass of: HP_0009804
notation: HP:0001592

Maxillary lateral incisor microdontia
tree view: Microdontia
tree view: HP_0011063
IAO_0000115: Decreased size of the maxillary permanent incisor.
has broad synonym: Decreased size of maxillary lateral incisor
has broad synonym: Decreased size of upper lateral incisor
has broad synonym: Hypotrophic maxillary lateral incisor
has broad synonym: Hypotrophic upper lateral incisor
has broad synonym: Small maxillary lateral incisor
has broad synonym: Small upper lateral incisor
has db xref: UMLS:C1845111
has db xref: UMLS:C4280588
has db xref: UMLS:C4280589
has exact synonym: Decreased width of upper lateral incisor
has OBO namespace: human_phenotype
id: HP:0001593
type: Class
subclass of: Microdontia
subclass of: HP_0011063
notation: HP:0001593

HP_0001594
IAO_0000231: IAO_0000227
IAO_0100001: HP_0100324
type: Class
deprecated: true
notation: HP:0001594

Abnormal hair morphology
tree view: HP_0011138
IAO_0000115: An abnormality of the hair.
has db xref: UMLS:C0157733
has db xref: UMLS:C2677869
has exact synonym: Abnormality of the hair
has exact synonym: Hair abnormality
has narrow synonym: Abnormality of the hair shaft
has OBO namespace: human_phenotype
id: HP:0001595
in subset: hposlim core
type: Class
subclass of: HP_0011138
notation: HP:0001595

Alopecia
tree view: HP_0011362
IAO_0000115: Loss of hair from the head or body.
has alternative id: HP:0002238
has alternative id: HP:0008068
has db xref: MEDDRA:10001760
has db xref: MSH:D000505
has db xref: SNOMEDCT_US:278040002
has db xref: SNOMEDCT_US:56317004
has db xref: UMLS:C0002170
has exact synonym: Hair loss
has OBO namespace: human_phenotype
id: HP:0001596
in subset: hposlim core
type: Class
subclass of: HP_0011362
notation: HP:0001596

Abnormality of the nail
tree view: HP_0011138
IAO_0000115: Abnormality of the nail.
has db xref: MSH:D009260
has db xref: MSH:D009264
has db xref: SNOMEDCT_US:17790008
has db xref: UMLS:C0027339
has db xref: UMLS:C0853087
has exact synonym: Abnormality of the nail
has OBO namespace: human_phenotype
has related synonym: Nail disease
id: HP:0001597
type: Class
comment: Abnormality of the fingernails and/or toenails.
subclass of: HP_0011138
notation: HP:0001597

Concave nail
tree view: Nail dysplasia
IAO_0000115: The natural longitudinal (posterodistal) convex arch is not present or is inverted.
has alternative id: HP:0001815
has db xref: SNOMEDCT_US:66270006
has db xref: UMLS:C0221261
has exact synonym: Koilonychia
has exact synonym: Spoon-shaped nails
has OBO namespace: human_phenotype
id: HP:0001598
in subset: hposlim core
type: Class
comment: Koilonychia literally means spoon nails. This often results in a saucer- or spoon-shaped nail and the free edge of the nail is typically everted. The affected digits should be specified. Note that the bundled term koilonychia is an abnormal shape of the fingernail where the nail has raised ridges and is thin and concave.
subclass of: Nail dysplasia
notation: HP:0001598

HP_0001599
IAO_0000231: IAO_0000227
IAO_0100001: HP_0007495
type: Class
deprecated: true
notation: HP:0001599

Abnormality of the larynx
tree view: Abnormality of the upper respiratory tract
IAO_0000115: An abnormality of the larynx.
has db xref: UMLS:C4021777
has exact synonym: Laryngeal abnormalities
has exact synonym: Laryngeal anomalies
has OBO namespace: human_phenotype
id: HP:0001600
type: Class
subclass of: Abnormality of the upper respiratory tract
notation: HP:0001600

Laryngomalacia
tree view: HP_0025423
IAO_0000115: Laryngomalacia is a congenital abnormality of the laryngeal cartilage in which the cartilage is floppy and prolapses over the larynx during inspiration.
has db xref: MSH:D055092
has db xref: SNOMEDCT_US:38086007
has db xref: UMLS:C0264303
has exact synonym: Softening of voice box tissue
has OBO namespace: human_phenotype
id: HP:0001601
type: Class
comment: Laryngomalacia may affect the epiglottis, the arytenoid cartilages, or both. It is the most common cause of congenital stridor.
subclass of: HP_0025423
notation: HP:0001601

Laryngeal stenosis
tree view: HP_0025423
IAO_0000115: Stricture or narrowing of the larynx that may be associated with symptoms of respiratory difficulty depending on the degree of laryngeal narrowing.
has db xref: MSH:D007829
has db xref: SNOMEDCT_US:75547007
has db xref: UMLS:C0023075
has OBO namespace: human_phenotype
id: HP:0001602
type: Class
subclass of: HP_0025423
notation: HP:0001602

HP_0001603
IAO_0000231: IAO_0000227
IAO_0100001: Vocal cord paresis
type: Class
deprecated: true
notation: HP:0001603

Vocal cord paresis
tree view: Vocal cord paralysis
IAO_0000115: Decreased strength of the vocal folds.
has alternative id: HP:0001603
has alternative id: HP:0001616
has alternative id: HP:0008745
has db xref: MSH:D014826
has db xref: SNOMEDCT_US:302912005
has db xref: SNOMEDCT_US:445424004
has db xref: UMLS:C0751576
has db xref: UMLS:C1832690
has db xref: UMLS:C1843187
has db xref: UMLS:C1853729
has exact synonym: Hoarse voice due to vocal cord paresis
has exact synonym: Vocal cord paresis in severe cases
has exact synonym: Weakness of the vocal cords
has OBO namespace: human_phenotype
id: HP:0001604
type: Class
comment: Vocal cord paresis can be characterized by a hoarseness, reduced volume of speech, aspiration and pain in the throat.
subclass of: Vocal cord paralysis
notation: HP:0001604

Vocal cord paralysis
tree view: Paralysis
tree view: HP_0031801
IAO_0000115: A loss of the ability to move the vocal folds.
has alternative id: HP:0001606
has alternative id: HP:0006847
has db xref: MSH:D014826
has db xref: SNOMEDCT_US:302912005
has db xref: UMLS:C0042928
has db xref: UMLS:C1854345
has exact synonym: Inability to move vocal cords
has exact synonym: Laryngeal paralysis
has OBO namespace: human_phenotype
id: HP:0001605
type: Class
comment: Vocal cord paralysis may lead to signs and symptoms such as hoarseness, inability to speak loudly, choking or coughing while eating with the risk of aspiration pneumonia. Affected patients may also experience breathing difficulties.
subclass of: Paralysis
subclass of: HP_0031801
notation: HP:0001605

obsolete Vocal cord paralysis (caused by tumor impingement)
IAO_0000231: IAO_0000227
IAO_0100001: Vocal cord paralysis
IAO_0100001: HP:0001605
has OBO namespace: human_phenotype
id: HP:0001606
type: Class
deprecated: true
notation: HP:0001606

Subglottic stenosis
tree view: HP_0025423
has db xref: SNOMEDCT_US:22668006
has db xref: UMLS:C0238441
has OBO namespace: human_phenotype
id: HP:0001607
type: Class
subclass of: HP_0025423
notation: HP:0001607

Abnormality of the voice
tree view: Phenotypic abnormality
has db xref: UMLS:C4021776
has exact synonym: Abnormality of the voice
has exact synonym: Voice abnormality
has OBO namespace: human_phenotype
id: HP:0001608
type: Class
comment: This term describes any abnormality of the voice, i.e., of the sounds produced by humans by the passage of air through the larynx and over the vocal cords, and then modified by the resonance organs, the nasopharynx, and the mouth.
subclass of: Phenotypic abnormality
notation: HP:0001608

Hoarse voice
tree view: Abnormality of the voice
IAO_0000115: Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky.
has alternative id: HP:0001613
has alternative id: HP:0001619
has db xref: MSH:D006685
has db xref: SNOMEDCT_US:50219008
has db xref: UMLS:C0019825
has db xref: UMLS:C1854348
has exact synonym: Hoarse voice
has exact synonym: Hoarseness
has exact synonym: Husky voice
has OBO namespace: human_phenotype
id: HP:0001609
type: Class
subclass of: Abnormality of the voice
notation: HP:0001609

HP_0001610
IAO_0000231: IAO_0000227
IAO_0100001: High pitched voice
type: Class
deprecated: true
notation: HP:0001610

Nasal speech
tree view: Abnormality of the voice
IAO_0000115: A type of speech characterized by the presence of an abnormally increased nasal airflow during speech.
has alternative id: HP:0001614
has db xref: SNOMEDCT_US:229645001
has db xref: SNOMEDCT_US:289190003
has db xref: UMLS:C0454555
has db xref: UMLS:C0566620
has exact synonym: Hypernasal speech
has exact synonym: Hypernasal voice
has exact synonym: Nasal speech
has exact synonym: Nasal voice
has OBO namespace: human_phenotype
id: HP:0001611
type: Class
comment: May be associated with incomplete or weak closure of the velum. Examination is by nasal endoscopy.
subclass of: Abnormality of the voice
notation: HP:0001611

Weak cry
tree view: HP_0025429
has db xref: SNOMEDCT_US:2120003
has db xref: UMLS:C0234860
has OBO namespace: human_phenotype
id: HP:0001612
type: Class
subclass of: HP_0025429
notation: HP:0001612

obsolete Hoarse voice (caused by tumor impingement)
IAO_0000231: IAO_0000227
IAO_0100001: Hoarse voice
IAO_0100001: HP:0001609
has OBO namespace: human_phenotype
id: HP:0001613
type: Class
deprecated: true
notation: HP:0001613

HP_0001614
IAO_0000231: IAO_0000227
IAO_0100001: Nasal speech
type: Class
deprecated: true
notation: HP:0001614

Hoarse cry
tree view: Hoarse voice
has db xref: UMLS:C2678303
has exact synonym: Hoarse cry
has OBO namespace: human_phenotype
id: HP:0001615
type: Class
subclass of: Hoarse voice
notation: HP:0001615

HP_0001616
IAO_0000231: IAO_0000227
IAO_0100001: Vocal cord paresis
type: Class
deprecated: true
notation: HP:0001616

HP_0001617
IAO_0000231: IAO_0000227
IAO_0100001: Absent speech
type: Class
deprecated: true
notation: HP:0001617

Dysphonia
tree view: Abnormality of the voice
tree view: Neurological speech impairment
IAO_0000115: An impairment in the ability to produce voice sounds.
has db xref: MSH:D055154
has db xref: SNOMEDCT_US:47004009
has db xref: UMLS:C1527344
has exact synonym: Inability to produce voice sounds
has OBO namespace: human_phenotype
id: HP:0001618
type: Class
subclass of: Abnormality of the voice
subclass of: Neurological speech impairment
notation: HP:0001618

HP_0001619
IAO_0000231: IAO_0000227
IAO_0100001: Hoarse voice
type: Class
deprecated: true
notation: HP:0001619

High pitched voice
tree view: Abnormality of the voice
IAO_0000115: An abnormal increase in the pitch (frequency) of the voice.
has alternative id: HP:0001610
has alternative id: HP:0008374
has alternative id: HP:0008377
has alternative id: HP:0008378
has alternative id: HP:0008379
has alternative id: HP:0009146
has db xref: SNOMEDCT_US:51406002
has db xref: UMLS:C0241703
has exact synonym: High pitched voice
has exact synonym: High-pitched voice
has OBO namespace: human_phenotype
id: HP:0001620
type: Class
subclass of: Abnormality of the voice
notation: HP:0001620

Weak voice
tree view: Abnormality of the voice
IAO_0000115: Reduced intensity (volume) of speech.
has db xref: MSH:D014832
has db xref: SNOMEDCT_US:34527004
has db xref: SNOMEDCT_US:8614008
has db xref: UMLS:C0241700
has db xref: UMLS:C0521007
has exact synonym: Soft voice
has exact synonym: Weak voice
has OBO namespace: human_phenotype
has related synonym: Hypophonia
id: HP:0001621
type: Class
comment: Hypophonia refers to an abnormally weak voice due to incoordination of the muscles concerned in vocalization.
subclass of: Abnormality of the voice
notation: HP:0001621

Premature birth
tree view: Abnormality of prenatal development or birth
IAO_0000115: The birth of a baby of less than 37 weeks of gestational age.
has db xref: MSH:D047928
has db xref: SNOMEDCT_US:282020008
has db xref: SNOMEDCT_US:367494004
has db xref: SNOMEDCT_US:49550006
has db xref: UMLS:C0151526
has db xref: UMLS:C0233315
has exact synonym: Premature birth
has exact synonym: Premature delivery
has exact synonym: Premature delivery of affected infants
has exact synonym: Preterm delivery
has exact synonym: Shortened gestation time
has OBO namespace: human_phenotype
id: HP:0001622
type: Class
subclass of: Abnormality of prenatal development or birth
notation: HP:0001622

Breech presentation
tree view: Abnormal delivery
IAO_0000115: A position of the fetus at delivery in which the fetus enters the birth canal with the buttocks or feet first.
has db xref: MSH:D001946
has db xref: SNOMEDCT_US:249101006
has db xref: SNOMEDCT_US:6096002
has db xref: UMLS:C0006157
has exact synonym: Breech presentation at birth
has exact synonym: Feet or buttocks of fetus positioned near opening of uterus
has OBO namespace: human_phenotype
id: HP:0001623
type: Class
subclass of: Abnormal delivery
notation: HP:0001623

HP_0001624
IAO_0000231: IAO_0000227
IAO_0100001: Stillbirth
type: Class
deprecated: true
notation: HP:0001624

HP_0001625
IAO_0000231: IAO_0000227
IAO_0100001: Stillbirth
type: Class
deprecated: true
notation: HP:0001625

Abnormality of the cardiovascular system
tree view: Phenotypic abnormality
IAO_0000115: Any abnormality of the cardiovascular system.
has db xref: MSH:D002318
has db xref: MSH:D018376
has db xref: SNOMEDCT_US:49601007
has db xref: UMLS:C0007222
has db xref: UMLS:C0243050
has exact synonym: Abnormality of the cardiovascular system
has exact synonym: Cardiac anomaly
has exact synonym: Cardiovascular abnormality
has OBO namespace: human_phenotype
has related synonym: Cardiovascular disease
id: HP:0001626
type: Class
comment: The cardiovascular system consists of the heart, vasculature, and the lymphatic system.
subclass of: Phenotypic abnormality
notation: HP:0001626

Abnormal heart morphology
tree view: HP_0030680
IAO_0000115: Any structural anomaly of the heart.
has alternative id: HP:3000001
has db xref: MSH:D006330
has db xref: SNOMEDCT_US:13213009
has db xref: UMLS:C0018798
has db xref: UMLS:C0152021
has exact synonym: Abnormality of cardiac morphology
has exact synonym: Abnormality of the heart
has exact synonym: Abnormally shaped heart
has exact synonym: Cardiac abnormality
has exact synonym: Cardiac anomalies
has exact synonym: Congenital heart defect
has exact synonym: Congenital heart defects
has OBO namespace: human_phenotype
id: HP:0001627
type: Class
subclass of: HP_0030680
notation: HP:0001627

HP_0001628
IAO_0000231: IAO_0000227
IAO_0100001: HP_0010438
type: Class
deprecated: true
notation: HP:0001628

Ventricular septal defect
tree view: HP_0010438
IAO_0000115: A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.
has alternative id: HP:0001652
has db xref: Fyler:1300
has db xref: MSH:D006345
has db xref: SNOMEDCT_US:253549006
has db xref: SNOMEDCT_US:30288003
has db xref: UMLS:C0018818
has exact synonym: Hole in heart wall separating two lower heart chambers
has exact synonym: Ventricular septal defects
has exact synonym: Ventriculoseptal defect
has OBO namespace: human_phenotype
id: HP:0001629
type: Class
subclass of: HP_0010438
notation: HP:0001629

HP_0001630
IAO_0000231: IAO_0000227
IAO_0100001: Atrial septal defect
type: Class
deprecated: true
notation: HP:0001630

Atrial septal defect
tree view: HP_0005120
tree view: HP_0011994
IAO_0000115: Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.
has alternative id: HP:0001630
has db xref: Fyler:2050
has db xref: ICD-10:Q21.1
has db xref: MSH:D006344
has db xref: SNOMEDCT_US:253366007
has db xref: SNOMEDCT_US:405752007
has db xref: SNOMEDCT_US:70142008
has db xref: UMLS:C0018817
has exact synonym: ASD
has exact synonym: An opening in the wall separating the top two chambers of the heart
has exact synonym: Atria septal defect
has exact synonym: Atrial septum defect
has exact synonym: Defect in the atrial septum
has exact synonym: Hole in heart wall separating two upper heart chambers
has OBO namespace: human_phenotype
id: HP:0001631
type: Class
subclass of: HP_0005120
subclass of: HP_0011994
notation: HP:0001631

HP_0001632
IAO_0000231: IAO_0000227
IAO_0100001: HP_0030680
type: Class
deprecated: true
notation: HP:0001632

Abnormal mitral valve morphology
tree view: HP_0006705
IAO_0000115: Any structural anomaly of the mitral valve.
has alternative id: HP:0031477
has db xref: UMLS:C4025759
has exact synonym: Abnormality of the mitral valve
has OBO namespace: human_phenotype
id: HP:0001633
type: Class
subclass of: HP_0006705
notation: HP:0001633

Mitral valve prolapse
tree view: Abnormal mitral valve morphology
IAO_0000115: One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle.
has db xref: Fyler:1533
has db xref: MSH:D008945
has db xref: SNOMEDCT_US:409712001
has db xref: SNOMEDCT_US:8074002
has db xref: UMLS:C0026267
has OBO namespace: human_phenotype
id: HP:0001634
type: Class
comment: Mitral valve prolapse can be associated with mitral regurgitation.
subclass of: Abnormal mitral valve morphology
notation: HP:0001634

Congestive heart failure
tree view: HP_0011025
IAO_0000115: The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction.
has alternative id: HP:0006686
has db xref: MSH:D006333
has db xref: SNOMEDCT_US:42343007
has db xref: SNOMEDCT_US:84114007
has db xref: UMLS:C0018801
has db xref: UMLS:C0018802
has exact synonym: CHF
has exact synonym: Cardiac failure
has exact synonym: Cardiac failures
has exact synonym: Cardiac insufficiency
has exact synonym: Chronic heart failure
has exact synonym: Heart failure
has OBO namespace: human_phenotype
id: HP:0001635
type: Class
subclass of: HP_0011025
notation: HP:0001635

Tetralogy of Fallot
tree view: Conotruncal defect
IAO_0000115: A congenital cardiac malformation comprising pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy. The diagnosis of TOF is made if at least three of the four above mentioned features are present.
has db xref: ICD-10:Q21.3
has db xref: MSH:D013771
has db xref: SNOMEDCT_US:86299006
has db xref: UMLS:C0039685
has exact synonym: Tetrology of fallot
has OBO namespace: human_phenotype
id: HP:0001636
type: Class
subclass of: Conotruncal defect
notation: HP:0001636

Abnormal myocardium morphology
tree view: Abnormal heart morphology
IAO_0000115: A structural anomaly of the muscle layer of the heart wall.
has db xref: UMLS:C4025758
has exact synonym: Abnormality of the myocardium
has OBO namespace: human_phenotype
id: HP:0001637
type: Class
subclass of: Abnormal heart morphology
notation: HP:0001637

Cardiomyopathy
tree view: Abnormal myocardium morphology
IAO_0000115: A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality.
has db xref: Fyler:1840
has db xref: MSH:D009202
has db xref: SNOMEDCT_US:57809008
has db xref: SNOMEDCT_US:85898001
has db xref: UMLS:C0878544
has exact synonym: Disease of the heart muscle
has OBO namespace: human_phenotype
id: HP:0001638
type: Class
subclass of: Abnormal myocardium morphology
notation: HP:0001638

Hypertrophic cardiomyopathy
tree view: Cardiomyopathy
IAO_0000115: Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality.
has db xref: MSH:D002312
has db xref: SNOMEDCT_US:233873004
has db xref: SNOMEDCT_US:45227007
has db xref: UMLS:C0007194
has exact synonym: Cardiomyopathy, hypertrophic
has exact synonym: Enlarged and thickened heart muscle
has OBO namespace: human_phenotype
id: HP:0001639
type: Class
subclass of: Cardiomyopathy
notation: HP:0001639

Cardiomegaly
tree view: Abnormal heart morphology
IAO_0000115: Increased size of the heart.
has db xref: MSH:D006332
has db xref: SNOMEDCT_US:8186001
has db xref: UMLS:C0018800
has exact synonym: Enlarged heart
has exact synonym: Increased heart size
has OBO namespace: human_phenotype
id: HP:0001640
type: Class
subclass of: Abnormal heart morphology
notation: HP:0001640

Abnormal pulmonary valve morphology
tree view: Abnormal heart valve morphology
IAO_0000115: Any structural abnormality of the pulmonary valve.
has db xref: Fyler:1600
has db xref: Fyler:1602
has db xref: SNOMEDCT_US:448643005
has db xref: UMLS:C3164374
has exact synonym: Abnormality of the pulmonary valve
has exact synonym: Anomaly of the pulmonary valve
has OBO namespace: human_phenotype
id: HP:0001641
type: Class
subclass of: Abnormal heart valve morphology
notation: HP:0001641

Pulmonic stenosis
tree view: HP_0031654
IAO_0000115: A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis) or just below the pulmonary valve (infundibular stenosis).
has db xref: Fyler:1611
has db xref: MSH:D011666
has db xref: SNOMEDCT_US:56786000
has db xref: UMLS:C1956257
has exact synonym: Narrowing of pulmonic valve
has exact synonym: Pulmonary stenosis
has exact synonym: Pulmonary valve stenosis
has exact synonym: Pulmonic valve stenosis
has OBO namespace: human_phenotype
id: HP:0001642
type: Class
comment: Infundibular pulmonic stenosis is mostly caused by overgrowth of the heart muscle wall (hypertrophy of the septoparietal trabeculae). Pulmonic stenosis is often seen as a part of Fallot' s tetralogy, in which case the events leading to the formation of the overriding aorta are also believed to be a cause of the pulmonic stenosis. The pulmonic stenosis is the major cause of the malformations seen in patients with Fallot tetralogy, with the other associated malformations acting as compensatory mechanisms to the pulmonic stenosis. The degree of stenosis varies between individuals with TOF, and is the primary determinant of symptoms and severity. This malformation is infrequently described as sub-pulmonary stenosis or subpulmonary obstruction.
subclass of: HP_0031654
notation: HP:0001642

Patent ductus arteriosus
tree view: HP_0011603
IAO_0000115: In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences.
has db xref: Fyler:2100
has db xref: MSH:D004374
has db xref: SNOMEDCT_US:83330001
has db xref: UMLS:C0013274
has exact synonym: Ductus arteriosus
has exact synonym: Persistent arterial duct
has exact synonym: Persistent ductus arteriosus
has OBO namespace: human_phenotype
id: HP:0001643
type: Class
subclass of: HP_0011603
notation: HP:0001643

Dilated cardiomyopathy
tree view: Cardiomyopathy
IAO_0000115: Dilated cardiomyopathy (DCM) is defined by the presence of left ventricular dilatation and left ventricular systolic dysfunction in the absence of abnormal loading conditions (hypertension, valve disease) or coronary artery disease sufficient to cause global systolic impairment. Right ventricular dilation and dysfunction may be present but are not necessary for the diagnosis.
has alternative id: HP:0001725
has alternative id: HP:0005159
has alternative id: HP:0200130
has db xref: Fyler:1843
has db xref: MSH:D002311
has db xref: SNOMEDCT_US:195021004
has db xref: SNOMEDCT_US:399020009
has db xref: UMLS:C0007193
has exact synonym: Cardiomyopathy, dilated
has exact synonym: Congestive cardiomyopathy
has exact synonym: Stretched and thinned heart muscle
has OBO namespace: human_phenotype
id: HP:0001644
type: Class
subclass of: Cardiomyopathy
notation: HP:0001644

Sudden cardiac death
tree view: Cardiac arrest
IAO_0000115: The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset).
has alternative id: HP:0005161
has db xref: MSH:D016757
has db xref: SNOMEDCT_US:95281009
has db xref: UMLS:C0085298
has exact synonym: Premature sudden cardiac death
has exact synonym: Sudden cardiac death
has OBO namespace: human_phenotype
id: HP:0001645
type: Class
subclass of: Cardiac arrest
notation: HP:0001645

Abnormal aortic valve morphology
tree view: Abnormal heart valve morphology
IAO_0000115: Any abnormality of the aortic valve.
has db xref: Fyler:1400
has db xref: Fyler:1408
has db xref: SNOMEDCT_US:448743001
has db xref: UMLS:C3164445
has exact synonym: Abnormality of the aortic valve
has OBO namespace: human_phenotype
id: HP:0001646
type: Class
subclass of: Abnormal heart valve morphology
notation: HP:0001646

Bicuspid aortic valve
tree view: HP_0031567
IAO_0000115: The presence of an aortic valve with two instead of the normal three cusps (flaps). Bicuspid aortic valvue is a malformation of a commissure (small space between the attachment of each cusp to the aortic wall) and the adjacent parts of the two corresponding cusps forming a raphe (the fused area of the two underdeveloped cusps turning into a malformed commissure between both cusps; the raphe is a fibrous ridge that extends from the commissure to the free edge of the two underdeveloped, conjoint cusps).
has db xref: MSH:C562388
has db xref: SNOMEDCT_US:72352009
has db xref: UMLS:C0149630
has exact synonym: Aortic valve has two leaflets rather than three
has OBO namespace: human_phenotype
id: HP:0001647
type: Class
comment: A normal aortic valve is composed of three aortic-valve cusps, each semilunar in appearance. The leaflets are housed within a small dilatation of the proximal aorta associated with each cusp, called the sinuses of Valsalva or aortic sinuses, and their association with the respective coronary ostia identifies them: left, right, and non-coronary sinuses. Each cusp is attached to the wall of the aorta by the outward edges of its semicircular border, and the attachment point between each leaflet is called a commissure [PMID:24827036].
subclass of: HP_0031567
notation: HP:0001647

Cor pulmonale
tree view: Abnormal right ventricle morphology
IAO_0000115: Right-sided heart failure resulting from chronic hypertension in the pulmonary arteries and right ventricle.
has db xref: MSH:D011660
has db xref: SNOMEDCT_US:274096000
has db xref: SNOMEDCT_US:83291003
has db xref: UMLS:C0034072
has OBO namespace: human_phenotype
id: HP:0001648
type: Class
comment: Cor pulmonale refers to a change in structure and function of the right ventricle of the heart as a result of a pulmonary disorder, generally resulting in right ventricular hypertrophy.
subclass of: Abnormal right ventricle morphology
notation: HP:0001648

Tachycardia
tree view: HP_0011675
IAO_0000115: A rapid heartrate that exceeds the range of the normal resting heartrate for age.
has alternative id: HP:0001673
has alternative id: HP:0001720
has db xref: MSH:D013610
has db xref: SNOMEDCT_US:3424008
has db xref: SNOMEDCT_US:86651002
has db xref: UMLS:C0039231
has db xref: UMLS:C4020868
has exact synonym: Fast heart rate
has exact synonym: Heart racing
has exact synonym: Racing heart
has OBO namespace: human_phenotype
has related synonym: Elevated heart rate
has related synonym: Increased heart rate
has related synonym: Rapid heart beat
id: HP:0001649
type: Class
subclass of: HP_0011675
notation: HP:0001649

Aortic valve stenosis
tree view: HP_0031652
IAO_0000115: The presence of a stenosis (narrowing) of the aortic valve.
has alternative id: HP:0005140
has db xref: Fyler:1411
has db xref: MSH:D001024
has db xref: SNOMEDCT_US:60573004
has db xref: UMLS:C0003507
has exact synonym: Aortic stenosis
has exact synonym: Narrowing of aortic valve
has exact synonym: Valvular aortic stenosis
has OBO namespace: human_phenotype
id: HP:0001650
type: Class
comment: Aortic stenosis can lead to a pressure gradient between the left ventricle and the aorta and may result in left ventricular hypertrophy and decreased left ventricular compliance.
subclass of: HP_0031652
notation: HP:0001650

Dextrocardia
tree view: Abnormal anatomic location of the heart
IAO_0000115: The heart is located in the right hand sided hemithorax. That is, there is a left-right reversal (or "mirror reflection") of the anatomical location of the heart in which the heart is locate on the right side instead of the left.
has db xref: EPCC:02.01.02
has db xref: Fyler:0110
has db xref: Fyler:110
has db xref: ICD-10:Q24.0
has db xref: MSH:D003914
has db xref: SNOMEDCT_US:27637000
has db xref: UMLS:C0011813
has exact synonym: Heart tip and four chambers point towards right side of body
has exact synonym: Thoracic situs inversus
has OBO namespace: human_phenotype
id: HP:0001651
type: Class
subclass of: Abnormal anatomic location of the heart
notation: HP:0001651

HP_0001652
IAO_0000231: IAO_0000227
IAO_0100001: Ventricular septal defect
type: Class
deprecated: true
notation: HP:0001652

Mitral regurgitation
tree view: HP_0031481
IAO_0000115: An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction.
has db xref: Fyler:1151
has db xref: MSH:D008944
has db xref: SNOMEDCT_US:48724000
has db xref: UMLS:C0026266
has db xref: UMLS:C3551535
has exact synonym: Mitral incompetence
has exact synonym: Mitral insufficiency
has exact synonym: Mitral valve insufficiency
has exact synonym: Mitral valve regurgitation
has OBO namespace: human_phenotype
has related synonym: Mitral regurgitation, mild
id: HP:0001653
type: Class
subclass of: HP_0031481
notation: HP:0001653

Abnormal heart valve morphology
tree view: Abnormal heart morphology
IAO_0000115: Any structural abnormality of a cardiac valve.
has alternative id: HP:0001703
has db xref: MSH:D006349
has db xref: SNOMEDCT_US:368009
has db xref: UMLS:C0018824
has db xref: UMLS:C0241654
has exact synonym: Abnormality of the heart valves
has exact synonym: Valvular abnormality
has OBO namespace: human_phenotype
has related synonym: Valvular heart disease
id: HP:0001654
type: Class
subclass of: Abnormal heart morphology
notation: HP:0001654

Patent foramen ovale
tree view: Atrial septal defect
IAO_0000115: Failure of the foramen ovale to seal postnatally, leaving a potential conduit between the left and right cardiac atria.
has db xref: Fyler:2020
has db xref: ICD-10:Q21.1
has db xref: MSH:D054092
has db xref: SNOMEDCT_US:204317008
has db xref: UMLS:C0016522
has OBO namespace: human_phenotype
id: HP:0001655
type: Class
comment: The foramen ovale is located in the atrial septum and is essential for proper fetal circulation. With separation from the placenta and with the first few breaths, the left atrium fills with blood returning from the lungs and closes the foramen ovale. Subsequently, during the first years of life, the foramen ovale seals shut.
subclass of: Atrial septal defect
notation: HP:0001655

HP_0001656
IAO_0000231: IAO_0000227
IAO_0100001: HP_0011675
type: Class
deprecated: true
notation: HP:0001656

Prolonged QT interval
tree view: HP_0031547
IAO_0000115: Increased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG).
has db xref: SNOMEDCT_US:111975006
has db xref: UMLS:C0151878
has exact synonym: Long QT syndrome
has exact synonym: Prolong qt interval on ekg
has OBO namespace: human_phenotype
has related synonym: Long Q-T syndrome
id: HP:0001657
type: Class
comment: The QT interval represents electrical depolarization and repolarization of the left and right ventricles.
subclass of: HP_0031547
notation: HP:0001657

Myocardial infarction
tree view: HP_0011025
IAO_0000115: Necrosis of the myocardium caused by an obstruction of the blood supply to the heart and often associated with chest pain, shortness of breath, palpitations, and anxiety as well as characteristic EKG findings and elevation of serum markers including creatine kinase-MB fraction and troponin.
has db xref: MSH:D009203
has db xref: SNOMEDCT_US:22298006
has db xref: UMLS:C0027051
has exact synonym: Heart attack
has exact synonym: MI
has OBO namespace: human_phenotype
id: HP:0001658
type: Class
subclass of: HP_0011025
notation: HP:0001658

Aortic regurgitation
tree view: HP_0031652
IAO_0000115: An insufficiency of the aortic valve, leading to regurgitation (backward flow) of blood from the aorta into the left ventricle.
has db xref: MSH:D001022
has db xref: SNOMEDCT_US:60234000
has db xref: UMLS:C0003504
has exact synonym: Aortic insufficiency
has exact synonym: Aortic valve regurgitation
has OBO namespace: human_phenotype
id: HP:0001659
type: Class
subclass of: HP_0031652
notation: HP:0001659

Truncus arteriosus
tree view: HP_0011603
IAO_0000115: A single arterial trunk arises from the cardiac mass. The pulmonary arteries, aorta and coronary arteries arise from this single trunk with no evidence of another outflow tract.
has db xref: Fyler:0500
has db xref: Fyler:500
has db xref: ICD-10:Q20.0
has db xref: MSH:D014338
has db xref: SNOMEDCT_US:58140002
has db xref: UMLS:C0041206
has db xref: UMLS:C4020867
has exact synonym: Common arterial trunk
has OBO namespace: human_phenotype
has related synonym: Persistant truncus arteriosus
id: HP:0001660
type: Class
subclass of: HP_0011603
notation: HP:0001660

HP_0001661
IAO_0000231: IAO_0000227
IAO_0100001: HP_0011675
type: Class
deprecated: true
notation: HP:0001661

Bradycardia
tree view: HP_0011675
IAO_0000115: A slower than normal heart rate (in adults, slower than 60 beats per minute).
has db xref: MSH:D001919
has db xref: SNOMEDCT_US:48867003
has db xref: UMLS:C0428977
has exact synonym: Brachycardia
has exact synonym: Slow heartbeats
has OBO namespace: human_phenotype
id: HP:0001662
type: Class
subclass of: HP_0011675
notation: HP:0001662

Ventricular fibrillation
tree view: Ventricular arrhythmia
IAO_0000115: Uncontrolled contractions of muscles fibers in the left ventricle not producing contraction of the left ventricle. Ventricular fibrillation usually begins with a ventricular premature contraction and a short run of rapid ventricular tachycardia degenerating into uncoordinating ventricular fibrillations.
has alternative id: HP:0005166
has db xref: MSH:D014693
has db xref: SNOMEDCT_US:71908006
has db xref: UMLS:C0042510
has OBO namespace: human_phenotype
id: HP:0001663
type: Class
subclass of: Ventricular arrhythmia
notation: HP:0001663

Torsade de pointes
tree view: Ventricular arrhythmia
IAO_0000115: A type of ventricular tachycardia characterized by polymorphioc QRS complexes that change in amplitue and cycle length, and thus have the appearance of oscillating around the baseline in the EKG.
has db xref: MSH:D016171
has db xref: SNOMEDCT_US:31722008
has db xref: UMLS:C0040479
has exact synonym: Torsades de pointes
has OBO namespace: human_phenotype
id: HP:0001664
type: Class
subclass of: Ventricular arrhythmia
notation: HP:0001664

HP_0001665
IAO_0000231: IAO_0000227
IAO_0100001: HP_0011675
type: Class
deprecated: true
notation: HP:0001665

HP_0001666
IAO_0000231: IAO_0000227
IAO_0100001: HP_0011675
type: Class
deprecated: true
notation: HP:0001666

Right ventricular hypertrophy
tree view: Abnormal right ventricle morphology
tree view: Ventricular hypertrophy
IAO_0000115: In this case the right ventricle is more muscular than normal, causing a characteristic boot-shaped (coeur-en-sabot) appearance as seen on anterior- posterior chest x-rays. Right ventricular hypertrophy is commonly associated with any form of right ventricular outflow obstruction or pulmonary hypertension, which may in turn owe its origin to left-sided disease. The echocardiographic signs are thickening of the anterior right ventricular wall and the septum. Cavity size is usually normal, or slightly enlarged. In many cases there is associated volume overload present due to tricuspid regurgitation, in the absence of this, septal motion is normal.
has db xref: Fyler:3609
has db xref: MSH:D017380
has db xref: SNOMEDCT_US:89792004
has db xref: UMLS:C0162770
has exact synonym: Heart right ventricle hypertrophy
has OBO namespace: human_phenotype
id: HP:0001667
type: Class
subclass of: Abnormal right ventricle morphology
subclass of: Ventricular hypertrophy
notation: HP:0001667

HP_0001668
IAO_0000231: IAO_0000227
IAO_0100001: Atrioventricular block
type: Class
deprecated: true
notation: HP:0001668

Transposition of the great arteries
tree view: HP_0011563
tree view: HP_0011603
IAO_0000115: A complex congenital heart defect in which the aorta arises from the morphologic right ventricle and the pulmonary artery arises from the morphologic left ventricle.
has db xref: SNOMEDCT_US:204296002
has db xref: SNOMEDCT_US:26146002
has db xref: UMLS:C3536741
has exact synonym: Transposition of great vessels
has OBO namespace: human_phenotype
id: HP:0001669
type: Class
subclass of: HP_0011563
subclass of: HP_0011603
notation: HP:0001669

Asymmetric septal hypertrophy
tree view: Hypertrophic cardiomyopathy
IAO_0000115: Hypertrophic cardiomyopathy with an asymmetrical pattern of hypertrophy, with a predilection for the interventricular septum and myocyte disarray.
has db xref: UMLS:C0205700
has OBO namespace: human_phenotype
id: HP:0001670
type: Class
subclass of: Hypertrophic cardiomyopathy
notation: HP:0001670

Abnormal cardiac septum morphology
tree view: Abnormal heart morphology
IAO_0000115: An anomaly of the intra-atrial or intraventricular septum.
has alternative id: HP:0001690
has alternative id: HP:0004760
has db xref: MSH:D006343
has db xref: SNOMEDCT_US:253273004
has db xref: SNOMEDCT_US:396351009
has db xref: SNOMEDCT_US:59494005
has db xref: UMLS:C0018816
has exact synonym: Abnormality of the cardiac septa
has exact synonym: Heart septal defect
has exact synonym: Septal defects
has OBO namespace: human_phenotype
id: HP:0001671
type: Class
subclass of: Abnormal heart morphology
notation: HP:0001671

HP_0001672
IAO_0000231: IAO_0000227
IAO_0100001: HP_0005157
type: Class
deprecated: true
notation: HP:0001672

obsolete Tachycardia (with pheochromocytoma)
IAO_0000231: IAO_0000227
IAO_0100001: Tachycardia
IAO_0100001: HP:0001649
has OBO namespace: human_phenotype
id: HP:0001673
type: Class
deprecated: true
notation: HP:0001673

Complete atrioventricular canal defect
tree view: HP_0006695
IAO_0000115: A congenital heart defect characteizred by a specific combination of heart defects with a common atrioventricular valve, primum atrial septal defect and inlet ventricular septal defect.
has alternative id: HP:0001689
has alternative id: HP:0006697
has db xref: Fyler:1120
has db xref: MSH:C562831
has db xref: SNOMEDCT_US:253414002
has db xref: UMLS:C1389018
has exact synonym: Atrioventricular canal
has exact synonym: Common atrioventricular canal
has exact synonym: Complete atrioventricular septal defect
has exact synonym: Complete common AV canal
has OBO namespace: human_phenotype
id: HP:0001674
type: Class
comment: The complete form of AVC shows an ostium primum atrial septal defect, a common atrioventricular valve and a variable deficiency of the interventricular septum inlet. CAVC can be classified into types A, B or C according to the morphology of the common atrioventricular valve.
subclass of: HP_0006695
notation: HP:0001674

obsolete Rhythm disturbances associated with pheochromocytoma
IAO_0000231: IAO_0000227
IAO_0100001: HP_0011675
IAO_0100001: HP:0011675
has OBO namespace: human_phenotype
id: HP:0001675
type: Class
deprecated: true
notation: HP:0001675

obsolete Palpitations (with pheochromocytoma)
IAO_0000231: IAO_0000227
IAO_0100001: Palpitations
IAO_0100001: HP:0001962
has OBO namespace: human_phenotype
id: HP:0001676
type: Class
deprecated: true
notation: HP:0001676

Coronary artery atherosclerosis
tree view: Atherosclerosis
tree view: HP_0006704
tree view: HP_0100545
IAO_0000115: Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries, which increases the risk of myocardial ischemia.
has alternative id: HP:0004929
has alternative id: HP:0005138
has db xref: MSH:D003324
has db xref: SNOMEDCT_US:414024009
has db xref: SNOMEDCT_US:53741008
has db xref: UMLS:C1956346
has exact synonym: Coronary atherosclerosis
has exact synonym: Coronary disease
has exact synonym: Plaque build-up in arteries supplying blood to heart
has OBO namespace: human_phenotype
id: HP:0001677
type: Class
comment: Coronary artery disease, also called atherosclerotic heart disease, is the result of atheromatous plaques within the coronary arteries leading to myocardial ischemia and infarction.
subclass of: Atherosclerosis
subclass of: HP_0006704
subclass of: HP_0100545
notation: HP:0001677

Atrioventricular block
tree view: HP_0005150
tree view: HP_0012722
IAO_0000115: Delayed or lack of conduction of atrial depolarizations through the atrioventricular node to the ventricles.
has alternative id: HP:0001668
has alternative id: HP:0005142
has alternative id: HP:0006672
has db xref: MSH:D054537
has db xref: SNOMEDCT_US:233917008
has db xref: UMLS:C0004245
has db xref: UMLS:C1841659
has exact synonym: Interruption of electrical communication between upper and lower chambers of heart
has OBO namespace: human_phenotype
has related synonym: Atrioventricular nodal disease
id: HP:0001678
type: Class
subclass of: HP_0005150
subclass of: HP_0012722
notation: HP:0001678

Abnormal aortic morphology
tree view: HP_0011004
tree view: HP_0030962
IAO_0000115: An abnormality of the aorta.
has alternative id: HP:0030963
has db xref: Fyler:1453
has db xref: UMLS:C4025756
has exact synonym: Abnormal aorta morphology
has exact synonym: Abnormality of the aorta
has OBO namespace: human_phenotype
id: HP:0001679
type: Class
subclass of: HP_0011004
subclass of: HP_0030962
notation: HP:0001679

Coarctation of aorta
tree view: Abnormal aortic morphology
IAO_0000115: Coarctation of the aorta is a narrowing or constriction of a segment of the aorta.
has db xref: MSH:D001017
has db xref: SNOMEDCT_US:7305005
has db xref: UMLS:C0003492
has exact synonym: Aortic coarctation
has exact synonym: Coarctation of the aorta
has exact synonym: Narrowing of aorta
has exact synonym: Narrowing of the aorta
has OBO namespace: human_phenotype
id: HP:0001680
type: Class
comment: Coarctation refers to a narrowing of the lumen of a vessel producing an obstruction to flow. Coarctation can occur in any region of the aorta. Coarctation of the aorta is often a discrete obstruction commonly located in the descending thoracic aorta. More specifically, it is usually located in the juxtaductal position immediately distal to the left-subclavian artery in a left-sided arch. The hallmark clinical finding in coarctation of the aorta is hypertension proximal to the lesion, with diminished blood pressure distal to the obstruction. Consequently, clinical diagnosis can be made by the presence of diminished lower extremity pulses, differences in timing between upper extremity central pulses (often brachial) and lower extremity central pulses (often femoral), or the presence of a supine arm-leg blood pressure gradient.
subclass of: Abnormal aortic morphology
notation: HP:0001680

Angina pectoris
tree view: HP_0011025
IAO_0000115: Paroxysmal chest pain that occurs with exertion or stress and is related to myocardial ischemia.
has db xref: MSH:D000787
has db xref: SNOMEDCT_US:194828000
has db xref: SNOMEDCT_US:225566008
has db xref: UMLS:C0002962
has OBO namespace: human_phenotype
id: HP:0001681
type: Class
subclass of: HP_0011025
notation: HP:0001681

Subvalvular aortic stenosis
tree view: HP_0011103
IAO_0000115: A fixed form of obstruction to blood flow across the left-ventricular outflow tract related to stenosis (narrowing) below the level of the aortic valve.
has db xref: MSH:D001020
has db xref: SNOMEDCT_US:204368006
has db xref: UMLS:C0340375
has exact synonym: Narrowing of blood vessel below aortic heart valve
has exact synonym: Subaortic stenosis
has OBO namespace: human_phenotype
id: HP:0001682
type: Class
comment: Narrowing of the left ventricle of the heart just below the aortic valve through which blood must pass on its way up into the aorta.
subclass of: HP_0011103
notation: HP:0001682

Ectopia cordis
tree view: Abnormal anatomic location of the heart
IAO_0000115: Congenital malformation of the ventral wall with partial or total evisceration of the heart outside the thoracic cavity and through the defect in the ventral wall.
has db xref: Fyler:0170
has db xref: Fyler:170
has db xref: MSH:D054083
has db xref: SNOMEDCT_US:78250005
has db xref: UMLS:C0013580
has OBO namespace: human_phenotype
id: HP:0001683
type: Class
comment: See Moss and Adams 'Heart Disease in Infants, Children and Adolescents' p1168. Ectopia cordis has a very poor prognosis. Ectopia cordis is generally divided into five types: cervical, cervicothoracic, thoracic, abdominal, and thoracicoabdominal. Ectopia cordis is rare (5-8 per million live births), but the two most common forms are thoracic (59%) and thoracicoabdominal (38%).
subclass of: Abnormal anatomic location of the heart
notation: HP:0001683

Secundum atrial septal defect
tree view: Atrial septal defect
IAO_0000115: A kind of atrial septum defect arising from an enlarged foramen ovale, inadequate growth of the septum secundum, or excessive absorption of the septum primum.
has alternative id: HP:0200131
has db xref: Fyler:2000
has db xref: ICD-10:Q21.1
has db xref: MSH:D006344
has db xref: SNOMEDCT_US:204315000
has db xref: UMLS:C0344724
has exact synonym: Atrial septal defect, ostium secundum type
has exact synonym: Ostium secundum atrial septal defect
has exact synonym: Patent ostium secundum
has OBO namespace: human_phenotype
id: HP:0001684
type: Class
subclass of: Atrial septal defect
notation: HP:0001684

Myocardial fibrosis
tree view: Abnormal myocardium morphology
IAO_0000115: Myocardial fibrosis is characterized by dysregulated collagen turnover (increased synthesis predominates over unchanged or decreased degradation) and excessive diffuse collagen accumulation in the interstitial and perivascular spaces as well as by phenotypically transformed fibroblasts, termed myofibroblasts.
has db xref: UMLS:C0151654
has OBO namespace: human_phenotype
id: HP:0001685
type: Class
comment: Myocardial fibrosis disrupts the myocardial architecture, contributes to myocardial disarray, and determines mechanical, electrical, and vasomotor dysfunction, thus promoting the progression of cardiac diseases to heart failure.
subclass of: Abnormal myocardium morphology
notation: HP:0001685

Loss of voice
tree view: Abnormality of the voice
has db xref: MSH:D001044
has db xref: SNOMEDCT_US:441913003
has db xref: SNOMEDCT_US:44564008
has db xref: UMLS:C0003564
has exact synonym: Aphonia
has OBO namespace: human_phenotype
id: HP:0001686
type: Class
subclass of: Abnormality of the voice
notation: HP:0001686

HP_0001687
IAO_0000231: IAO_0000227
IAO_0100001: HP_0011675
type: Class
deprecated: true
notation: HP:0001687

Sinus bradycardia
tree view: Bradycardia
tree view: HP_0011702
IAO_0000115: Bradycardia related to a mean resting sinus rate of less than 50 beats per minute.
has alternative id: HP:0005137
has db xref: Fyler:7013
has db xref: SNOMEDCT_US:49710005
has db xref: UMLS:C0085610
has OBO namespace: human_phenotype
id: HP:0001688
type: Class
subclass of: Bradycardia
subclass of: HP_0011702
notation: HP:0001688

HP_0001689
IAO_0000231: IAO_0000227
IAO_0100001: Complete atrioventricular canal defect
type: Class
deprecated: true
notation: HP:0001689

HP_0001690
IAO_0000231: IAO_0000227
IAO_0100001: Abnormal cardiac septum morphology
type: Class
deprecated: true
notation: HP:0001690

Muscular subvalvular aortic stenosis
tree view: Subvalvular aortic stenosis
IAO_0000115: A type of subvalvular aortic stenosis resulting from thickening of the musculature of the interventricular septum, which results in obstruction to blood flow through the left-ventricular outflow tract.
has db xref: UMLS:C3887554
has exact synonym: Muscular subaortic stenosis
has OBO namespace: human_phenotype
id: HP:0001691
type: Class
subclass of: Subvalvular aortic stenosis
notation: HP:0001691

Atrial arrhythmia
tree view: HP_0005115
IAO_0000115: A type of supraventricular tachycardia in which the atria are the principal site of electrophysiologic disturbance.
has db xref: SNOMEDCT_US:17366009
has db xref: UMLS:C0085611
has db xref: UMLS:C4025755
has OBO namespace: human_phenotype
has related synonym: Primary atrial arrhythmia
id: HP:0001692
type: Class
subclass of: HP_0005115
notation: HP:0001692

Cardiac shunt
tree view: HP_0011028
IAO_0000115: Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system.
has db xref: SNOMEDCT_US:442119001
has db xref: UMLS:C0232180
has OBO namespace: human_phenotype
id: HP:0001693
type: Class
subclass of: HP_0011028
notation: HP:0001693

Right-to-left shunt
tree view: Cardiac shunt
IAO_0000115: Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from the right side of the heart to the left.
has db xref: SNOMEDCT_US:79692001
has db xref: UMLS:C0428871
has OBO namespace: human_phenotype
id: HP:0001694
type: Class
subclass of: Cardiac shunt
notation: HP:0001694

Cardiac arrest
tree view: HP_0011675
IAO_0000115: An abrupt loss of heart function.
has db xref: MSH:D006323
has db xref: SNOMEDCT_US:397829000
has db xref: SNOMEDCT_US:410429000
has db xref: UMLS:C0018790
has exact synonym: Heart stops beating
has OBO namespace: human_phenotype
id: HP:0001695
type: Class
subclass of: HP_0011675
notation: HP:0001695

Situs inversus totalis
tree view: Dextrocardia
tree view: HP_0011534
IAO_0000115: A left-right reversal (or "mirror reflection") of the anatomical location of the major thoracic and abdominal organs.
has db xref: Fyler:0100
has db xref: Fyler:100
has db xref: MSH:D012857
has db xref: MSH:D059446
has db xref: SNOMEDCT_US:14821001
has db xref: SNOMEDCT_US:24614000
has db xref: SNOMEDCT_US:27317008
has db xref: SNOMEDCT_US:43876007
has db xref: UMLS:C0037221
has db xref: UMLS:C0266642
has exact synonym: All organs on wrong side of body
has exact synonym: situs oppositus
has exact synonym: situs transversus
has OBO namespace: human_phenotype
has related synonym: Situs inversus
id: HP:0001696
type: Class
subclass of: Dextrocardia
subclass of: HP_0011534
notation: HP:0001696

Abnormal pericardium morphology
tree view: Abnormal heart morphology
IAO_0000115: An abnormality of the pericardium, i.e., of the fluid filled sac that surrounds the heart and the proximal ends of the aorta, vena cava, and the pulmonary artery.
has db xref: Fyler:1900
has db xref: UMLS:C4025754
has exact synonym: Abnormality of the pericardium
has OBO namespace: human_phenotype
id: HP:0001697
type: Class
subclass of: Abnormal heart morphology
notation: HP:0001697

Pericardial effusion
tree view: Abnormal pericardium morphology
IAO_0000115: Accumulation of fluid within the pericardium.
has db xref: Fyler:1940
has db xref: MSH:D010490
has db xref: SNOMEDCT_US:373945007
has db xref: UMLS:C0031039
has exact synonym: Fluid around heart
has exact synonym: Pericardial effusions
has OBO namespace: human_phenotype
id: HP:0001698
type: Class
subclass of: Abnormal pericardium morphology
notation: HP:0001698

Sudden death
tree view: HP_0011420
IAO_0000115: Rapid and unexpected death.
has db xref: MSH:D003645
has db xref: SNOMEDCT_US:26636000
has db xref: UMLS:C0011071
has OBO namespace: human_phenotype
id: HP:0001699
type: Class
subclass of: HP_0011420
notation: HP:0001699

Myocardial necrosis
tree view: Abnormal myocardium morphology
IAO_0000115: Irreversible damage to heart tissue (myocardium) due to lack of oxygen after a heart attack (myocardial infarction).
has db xref: SNOMEDCT_US:251061000
has db xref: UMLS:C1442837
has OBO namespace: human_phenotype
id: HP:0001700
type: Class
subclass of: Abnormal myocardium morphology
notation: HP:0001700

Pericarditis
tree view: Abnormal pericardium morphology
tree view: HP_0045073
IAO_0000115: Inflammation of the sac-like covering around the heart (pericardium).
has db xref: MSH:D010493
has db xref: SNOMEDCT_US:3238004
has db xref: UMLS:C0031046
has exact synonym: Swelling or irritation of membrane around heart
has OBO namespace: human_phenotype
id: HP:0001701
type: Class
subclass of: Abnormal pericardium morphology
subclass of: HP_0045073
notation: HP:0001701

Abnormal tricuspid valve morphology
tree view: HP_0006705
IAO_0000115: Any structural anomaly of the tricuspid valve.
has alternative id: HP:0031440
has db xref: EPCC:06.01.00
has db xref: UMLS:C4025753
has exact synonym: Abnormality of the tricuspid valve
has OBO namespace: human_phenotype
id: HP:0001702
type: Class
subclass of: HP_0006705
notation: HP:0001702

HP_0001703
IAO_0000231: IAO_0000227
IAO_0100001: Abnormal heart valve morphology
type: Class
deprecated: true
notation: HP:0001703

Tricuspid valve prolapse
tree view: Abnormal tricuspid valve morphology
IAO_0000115: One or more of the leaflets (cusps) of the tricuspid valve bulges back into the right atrium upon contraction of the right ventricle.
has db xref: Fyler:1733
has db xref: MSH:D014263
has db xref: SNOMEDCT_US:253383003
has db xref: UMLS:C0040962
has OBO namespace: human_phenotype
id: HP:0001704
type: Class
subclass of: Abnormal tricuspid valve morphology
notation: HP:0001704

Right ventricular outlet tract obstruction
tree view: HP_0030872
IAO_0000115: An obstruction to the forward flow of blood in the outflow tract of the right ventricle.
has db xref: MSH:D014694
has db xref: UMLS:C0035619
has exact synonym: Right ventricular outlet obstruction
has OBO namespace: human_phenotype
id: HP:0001705
type: Class
subclass of: HP_0030872
notation: HP:0001705

Endocardial fibroelastosis
tree view: Abnormal endocardium morphology
IAO_0000115: Diffuse thickening of the ventricular endocardium and by associated myocardial dysfunction
has db xref: MSH:D004695
has db xref: SNOMEDCT_US:65457005
has db xref: UMLS:C0014117
has OBO namespace: human_phenotype
id: HP:0001706
type: Class
subclass of: Abnormal endocardium morphology
notation: HP:0001706

Abnormal right ventricle morphology
tree view: Abnormal cardiac ventricle morphology
IAO_0000115: An abnormality of the right ventricle of the heart.
has db xref: Fyler:1820
has db xref: SNOMEDCT_US:253516002
has db xref: UMLS:C0344887
has exact synonym: Abnormality of the right ventricle
has exact synonym: Right ventricular abnormality
has OBO namespace: human_phenotype
id: HP:0001707
type: Class
comment: The function of the right ventricle is to receive blood from the right atrium and to eject blood into the pulmonary artery.
subclass of: Abnormal cardiac ventricle morphology
notation: HP:0001707

Right ventricular failure
tree view: HP_0030872
IAO_0000115: Reduced ability of the right ventricle to perform its function (to receive blood from the right atrium and to eject blood into the pulmonary artery), often leading to pitting peripheral edema, ascites, and hepatomegaly.
has db xref: MSH:D006333
has db xref: SNOMEDCT_US:128404006
has db xref: SNOMEDCT_US:367363000
has db xref: UMLS:C0235527
has db xref: UMLS:C2939447
has exact synonym: Impaired right ventricular function
has exact synonym: Right ventricular impairment
has exact synonym: Right-sided heart failure
has OBO namespace: human_phenotype
id: HP:0001708
type: Class
subclass of: HP_0030872
notation: HP:0001708

Third degree atrioventricular block
tree view: Atrioventricular block
IAO_0000115: Third-degree atrioventricular (AV) block (also referred to as complete heart block) is the complete dissociation of the atria and the ventricles. Third-degree AV block exists when more P waves than QRS complexes exist and no relationship (no conduction) exists between them.
has db xref: SNOMEDCT_US:27885002
has db xref: UMLS:C0151517
has exact synonym: Complete heart block
has OBO namespace: human_phenotype
has related synonym: Third-degree heart block
id: HP:0001709
type: Class
subclass of: Atrioventricular block
notation: HP:0001709

Conotruncal defect
tree view: HP_0011563
tree view: HP_0011603
IAO_0000115: A congenital malformation of the outflow tract of the heart. Conotruncal defects are thought to result from a disturbance of the outflow tract of the embryonic heart, and comprise truncus arteriosus, tetralogy of Fallot, interrupted aortic arch, transposition of the great arteries, and double outlet right ventricle.
has db xref: UMLS:C1853238
has exact synonym: Conotruncal heart defects
has OBO namespace: human_phenotype
id: HP:0001710
type: Class
subclass of: HP_0011563
subclass of: HP_0011603
notation: HP:0001710

Abnormal left ventricle morphology
tree view: Abnormal cardiac ventricle morphology
IAO_0000115: Any structural abnormality of the left ventricle of the heart.
has db xref: Fyler:1810
has db xref: SNOMEDCT_US:253535002
has db xref: UMLS:C0344905
has exact synonym: Abnormal heart left ventricle morphology
has exact synonym: Abnormality of the left ventricle
has exact synonym: Left ventricular abnormality
has OBO namespace: human_phenotype
id: HP:0001711
type: Class
subclass of: Abnormal cardiac ventricle morphology
notation: HP:0001711

Left ventricular hypertrophy
tree view: Abnormal left ventricle morphology
tree view: Ventricular hypertrophy
IAO_0000115: Enlargement or increased size of the heart left ventricle.
has alternative id: HP:0005171
has db xref: Fyler:3608
has db xref: MSH:D017379
has db xref: SNOMEDCT_US:55827005
has db xref: UMLS:C0149721
has exact synonym: Heart left ventricle hypertrophy
has exact synonym: Left ventricular wall hypertrophy
has OBO namespace: human_phenotype
id: HP:0001712
type: Class
subclass of: Abnormal left ventricle morphology
subclass of: Ventricular hypertrophy
notation: HP:0001712

Abnormal cardiac ventricle morphology
tree view: Abnormal heart morphology
IAO_0000115: An abnormality of a cardiac ventricle.
has db xref: UMLS:C4025752
has exact synonym: Abnormality of cardiac ventricle
has OBO namespace: human_phenotype
id: HP:0001713
type: Class
subclass of: Abnormal heart morphology
notation: HP:0001713

Ventricular hypertrophy
tree view: Abnormal cardiac ventricle morphology
IAO_0000115: Enlargement of the cardiac ventricular muscle tissue with increase in the width of the wall of the ventricle and loss of elasticity. Ventricular hypertrophy is clinically differentiated into left and right ventricular hypertrophy.
has alternative id: HP:0005167
has db xref: SNOMEDCT_US:266249003
has db xref: UMLS:C0340279
has OBO namespace: human_phenotype
id: HP:0001714
type: Class
subclass of: Abnormal cardiac ventricle morphology
notation: HP:0001714

HP_0001715
IAO_0000231: IAO_0000227
IAO_0100001: HP_0005110
type: Class
deprecated: true
notation: HP:0001715

Wolff-Parkinson-White syndrome
tree view: Ventricular preexcitation
IAO_0000115: A disorder of the cardiac conduction system of the heart characterized by ventricular preexcitation due to the presence of an abnormal accessory atrioventricular electrical conduction pathway.
has db xref: MSH:D014927
has db xref: SNOMEDCT_US:74390002
has db xref: UMLS:C0043202
has OBO namespace: human_phenotype
id: HP:0001716
type: Class
subclass of: Ventricular preexcitation
notation: HP:0001716

Coronary artery calcification
tree view: Arterial calcification
tree view: HP_0006704
IAO_0000115: An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in a coronary artery.
has db xref: SNOMEDCT_US:445512009
has db xref: UMLS:C1611184
has OBO namespace: human_phenotype
id: HP:0001717
type: Class
subclass of: Arterial calcification
subclass of: HP_0006704
notation: HP:0001717

Mitral stenosis
tree view: HP_0031481
IAO_0000115: An abnormal narrowing of the orifice of the mitral valve.
has alternative id: HP:0005163
has db xref: EPCC:06.02.92
has db xref: Fyler:1511
has db xref: ICD-10:Q23.2
has db xref: MSH:D008946
has db xref: SNOMEDCT_US:79619009
has db xref: UMLS:C0026269
has exact synonym: Mitral valve stenosis
has OBO namespace: human_phenotype
id: HP:0001718
type: Class
subclass of: HP_0031481
notation: HP:0001718

Double outlet right ventricle
tree view: Conotruncal defect
tree view: HP_0011723
IAO_0000115: Double outlet right ventricle (DORV) is a type of ventriculoarterial connection in which both great vessels arise entirely or predominantly from the right ventricle.
has db xref: Fyler:600
has db xref: Fyler:606
has db xref: MSH:D004310
has db xref: SNOMEDCT_US:7484005
has db xref: UMLS:C0013069
has exact synonym: DORV
has exact synonym: Double-outlet right ventricle
has OBO namespace: human_phenotype
id: HP:0001719
type: Class
comment: During the development of the heart, the outflow tract initially connects exclusively with the primitive right ventricle and must undergo extensive remodelling to divide into a separate pulmonary artery and aorta; subsequently, there is continued remodelling to establish direct continuity from the left ventricle to the aorta. DORV encompasses a wide spectrum of anatomic arrangements and pathophysiologic disturbances. At one end of the spectrum, it mimics tetralogy of Fallot in the presence of pulmonary stenosis, or a large ventricular septal defect (VSD) in the absence of such stenosis. At the other end of the spectrum, it behaves like transposition of the great arteries with a VSD.
subclass of: Conotruncal defect
subclass of: HP_0011723
notation: HP:0001719

HP_0001720
IAO_0000231: IAO_0000227
IAO_0100001: Tachycardia
type: Class
deprecated: true
notation: HP:0001720

HP_0001721
IAO_0000231: IAO_0000227
IAO_0100001: HP_0011675
type: Class
deprecated: true
notation: HP:0001721

High-output congestive heart failure
tree view: Congestive heart failure
IAO_0000115: A form of heart failure characterized by elevated cardiac output. This may be seen in patients with heart failure and hyperthyroidism, anemia, pregnancy, arteriovenous fistulae, and others.
has db xref: UMLS:C0742747
has OBO namespace: human_phenotype
id: HP:0001722
type: Class
subclass of: Congestive heart failure
notation: HP:0001722

Restrictive cardiomyopathy
tree view: Cardiomyopathy
IAO_0000115: Restrictive left ventricular physiology is characterized by a pattern of ventricular filling in which increased stiffness of the myocardium causes ventricular pressure to rise precipitously with only small increases in volume, defined as restrictive ventricular physiology in the presence of normal or reduced diastolic volumes (of one or both ventricles), normal or reduced systolic volumes, and normal ventricular wall thickness.
has alternative id: HP:0005130
has db xref: MSH:D002313
has db xref: SNOMEDCT_US:415295002
has db xref: SNOMEDCT_US:90828009
has db xref: UMLS:C0007196
has OBO namespace: human_phenotype
id: HP:0001723
type: Class
comment: Historically, systolic function was said to be preserved in RCM, but is rare for contractility to be truly normal. Restrictive physiology can occur in patients with end-stage hypertrophic and DCM.
subclass of: Cardiomyopathy
notation: HP:0001723

obsolete Aortic dilatation
IAO_0000231: IAO_0000227
IAO_0100001: Aortic aneurysm
IAO_0100001: HP:0004942
has OBO namespace: human_phenotype
id: HP:0001724
type: Class
deprecated: true
notation: HP:0001724

HP_0001725
IAO_0000231: IAO_0000227
IAO_0100001: Dilated cardiomyopathy
type: Class
deprecated: true
notation: HP:0001725

obsolete Increased prevalence of valvular disease
consider: HP:0001654
has OBO namespace: human_phenotype
id: HP:0001726
type: Class
deprecated: true
notation: HP:0001726

Thromboembolic stroke
tree view: Thromboembolism
IAO_0000115: A cerebrovascular accident (stroke) that occurs because of thromboembolism.
has db xref: UMLS:C1112433
has OBO namespace: human_phenotype
id: HP:0001727
type: Class
subclass of: Thromboembolism
notation: HP:0001727

HP_0001728
IAO_0000231: IAO_0000227
IAO_0100001: Hearing impairment
type: Class
deprecated: true
notation: HP:0001728

HP_0001729
IAO_0000231: IAO_0000227
IAO_0100001: Hearing impairment
type: Class
deprecated: true
notation: HP:0001729

Progressive hearing impairment
tree view: Hearing impairment
IAO_0000115: A progressive form of hearing impairment.
has alternative id: HP:0008590
has db xref: UMLS:C1842138
has exact synonym: Progressive hearing loss
has OBO namespace: human_phenotype
id: HP:0001730
type: Class
subclass of: Hearing impairment
notation: HP:0001730

HP_0001731
IAO_0000231: IAO_0000227
IAO_0100001: Prelingual sensorineural hearing impairment
type: Class
deprecated: true
notation: HP:0001731

Abnormality of the pancreas
tree view: Abnormality of the abdominal organs
IAO_0000115: An abnormality of the pancreas.
has db xref: MSH:D010182
has db xref: SNOMEDCT_US:3855007
has db xref: UMLS:C0030286
has db xref: UMLS:C4025751
has exact synonym: Abnormality of the pancreas
has OBO namespace: human_phenotype
has related synonym: Pancreatic disease
id: HP:0001732
type: Class
subclass of: Abnormality of the abdominal organs
notation: HP:0001732

Pancreatitis
tree view: HP_0012091
tree view: HP_0012649
IAO_0000115: The presence of inflammation in the pancreas.
has db xref: MSH:D010195
has db xref: SNOMEDCT_US:75694006
has db xref: UMLS:C0030305
has exact synonym: Pancreatic inflammation
has OBO namespace: human_phenotype
id: HP:0001733
type: Class
subclass of: HP_0012091
subclass of: HP_0012649
notation: HP:0001733

Annular pancreas
tree view: HP_0012090
IAO_0000115: A congenital anomaly in which the pancreas completely (or sometimes incompletely) encircles the second portion of duodenum and occasionally obstructs the more proximal duodenum.
has db xref: MSH:C536376
has db xref: SNOMEDCT_US:40315008
has db xref: UMLS:C0149955
has OBO namespace: human_phenotype
id: HP:0001734
type: Class
subclass of: HP_0012090
notation: HP:0001734

Acute pancreatitis
tree view: Pancreatitis
IAO_0000115: A acute form of pancreatitis.
has alternative id: HP:0004512
has db xref: SNOMEDCT_US:197456007
has db xref: UMLS:C0001339
has exact synonym: Acute pancreatic inflammation
has exact synonym: Pancreatitis, acute
has OBO namespace: human_phenotype
id: HP:0001735
type: Class
subclass of: Pancreatitis
notation: HP:0001735

HP_0001736
IAO_0000231: IAO_0000227
IAO_0100001: Pancreatic islet-cell hyperplasia
type: Class
deprecated: true
notation: HP:0001736

Pancreatic cysts
tree view: HP_0012090
IAO_0000115: A cyst of the pancreas that possess a lining of mucous epithelium.
has db xref: MSH:D010181
has db xref: SNOMEDCT_US:31258000
has db xref: UMLS:C0030283
has db xref: UMLS:C1860394
has exact synonym: Pancreatic cysts
has OBO namespace: human_phenotype
has related synonym: Multiple pancreatic cysts
has related synonym: Pancreatic cyst
id: HP:0001737
type: Class
comment: Pancreatic cysts are to be distinguished from pancreatic pseudocysts that do not possess a lining of mucous epithelium.
subclass of: HP_0012090
notation: HP:0001737

Exocrine pancreatic insufficiency
tree view: HP_0012092
IAO_0000115: Impaired function of the exocrine pancreas associated with a reduced ability to digest foods because of lack of digestive enzymes.
has alternative id: HP:0002581
has alternative id: HP:0004508
has alternative id: HP:0004509
has db xref: MSH:D010188
has db xref: SNOMEDCT_US:37992001
has db xref: SNOMEDCT_US:47367009
has db xref: UMLS:C0030293
has db xref: UMLS:C0267963
has exact synonym: Inability to properly digest food due to lack of pancreatic digestive enzymes
has OBO namespace: human_phenotype
has related synonym: Pancreatic insufficiency
id: HP:0001738
type: Class
subclass of: HP_0012092
notation: HP:0001738

Abnormality of the nasopharynx
tree view: Abnormality of the nose
tree view: Abnormality of the pharynx
has db xref: UMLS:C4025750
has OBO namespace: human_phenotype
id: HP:0001739
type: Class
comment: The nasopharynx (nasal part of the pharynx) lies behind the nose and above the level of the soft palate.
subclass of: Abnormality of the nose
subclass of: Abnormality of the pharynx
notation: HP:0001739

HP_0001740
IAO_0000231: IAO_0000227
IAO_0100001: Recurrent upper respiratory tract infections
type: Class
deprecated: true
notation: HP:0001740

Phimosis
tree view: HP_0100587
IAO_0000115: The male foreskin cannot be fully retracted from the head of the penis.
has db xref: SNOMEDCT_US:253854008
has db xref: UMLS:C0345326
has OBO namespace: human_phenotype
id: HP:0001741
type: Class
subclass of: HP_0100587
notation: HP:0001741

Nasal obstruction
tree view: Abnormality of the nose
IAO_0000115: Reduced ability to pass air through the nasal cavity often leading to mouth breathing.
has db xref: MSH:D015508
has db xref: SNOMEDCT_US:232209000
has db xref: SNOMEDCT_US:267100006
has db xref: SNOMEDCT_US:68235000
has db xref: UMLS:C0027424
has db xref: UMLS:C0027429
has exact synonym: Blockage of nose
has exact synonym: Nasal blockage
has exact synonym: Nasal obstruction
has exact synonym: Obstruction of nose
has exact synonym: Stuffy nose
has narrow synonym: Congestion of nose
has narrow synonym: Nasal congestion
has OBO namespace: human_phenotype
id: HP:0001742
type: Class
subclass of: Abnormality of the nose
notation: HP:0001742

Abnormality of the spleen
tree view: Abnormality of the abdominal organs
tree view: HP_0100763
IAO_0000115: An abnormality of the spleen.
has db xref: UMLS:C4025749
has exact synonym: Abnormality of the spleen
has OBO namespace: human_phenotype
id: HP:0001743
type: Class
comment: The spleen is an abdominal organ that functions as a member of the hematopoietic system and of the immune system.
subclass of: Abnormality of the abdominal organs
subclass of: HP_0100763
notation: HP:0001743

Splenomegaly
tree view: Visceromegaly
tree view: HP_0025408
IAO_0000115: Abnormal increased size of the spleen.
has alternative id: HP:0001745
has alternative id: HP:0006269
has db xref: MSH:D013163
has db xref: SNOMEDCT_US:16294009
has db xref: UMLS:C0038002
has exact synonym: Increased spleen size
has OBO namespace: human_phenotype
id: HP:0001744
type: Class
subclass of: Visceromegaly
subclass of: HP_0025408
notation: HP:0001744

HP_0001745
IAO_0000231: IAO_0000227
IAO_0100001: Splenomegaly
type: Class
deprecated: true
notation: HP:0001745

Asplenia
tree view: HP_0010451
IAO_0000115: Absence (aplasia) of the spleen.
has db xref: Fyler:4771
has db xref: SNOMEDCT_US:702624008
has db xref: SNOMEDCT_US:707147002
has db xref: SNOMEDCT_US:93030006
has db xref: UMLS:C0600031
has exact synonym: Absent spleen
has OBO namespace: human_phenotype
id: HP:0001746
type: Class
subclass of: HP_0010451
notation: HP:0001746

Accessory spleen
tree view: HP_0009799
IAO_0000115: An accessory spleen is a round, iso-echogenic, homogenic and smooth structure and is seen as a normal variant mostly on the medial contour of the spleen, near the hilus or around the lower pole. This has no pathogenic relevance.
has db xref: Fyler:4772
has db xref: SNOMEDCT_US:10362008
has db xref: UMLS:C0266631
has OBO namespace: human_phenotype
id: HP:0001747
type: Class
subclass of: HP_0009799
notation: HP:0001747

Polysplenia
tree view: HP_0009799
IAO_0000115: Polysplenia is a congenital disease manifested by multiple small accessory spleens.
has alternative id: HP:0001749
has alternative id: HP:0006271
has alternative id: HP:0006272
has db xref: UMLS:C1856659
has exact synonym: Accessory spleens
has exact synonym: Multiple accessory spleens
has exact synonym: Multiple small spleens
has OBO namespace: human_phenotype
id: HP:0001748
type: Class
subclass of: HP_0009799
notation: HP:0001748

HP_0001749
IAO_0000231: IAO_0000227
IAO_0100001: Polysplenia
type: Class
deprecated: true
notation: HP:0001749

Single ventricle
tree view: Abnormal cardiac ventricle morphology
IAO_0000115: The presence of only one working lower chamber in the heart, usually with a virtual absence of the ventricular septum and usually present in conjunction with double inlet left or right ventricle.
has db xref: Fyler:0200
has db xref: Fyler:200
has db xref: SNOMEDCT_US:45503006
has db xref: UMLS:C0152424
has exact synonym: Common ventricle
has OBO namespace: human_phenotype
id: HP:0001750
type: Class
subclass of: Abnormal cardiac ventricle morphology
notation: HP:0001750

Vestibular dysfunction
tree view: HP_0011389
IAO_0000115: An abnormality of the functioning of the vestibular apparatus.
has alternative id: HP:0006917
has alternative id: HP:0007921
has db xref: UMLS:C1843865
has exact synonym: Impaired vestibular function
has exact synonym: Interictal vestibular dysfunction
has exact synonym: Vestibular function defect
has OBO namespace: human_phenotype
id: HP:0001751
type: Class
comment: The vestibular apparatus is the nonauditory portion of the inner ear that mediates the subjective sensation of motion and spatial orientation of the head, adjusts muscular activity and body position to maintain posture, and stabilizes in space the fixation point of the eyes when the head moves, in order to provide a stable image upon the retina. The functioning of the vestibular system is often checked clinically by means of the caloric test, in which the head is tilted backward by about 60 degrees and either warm or cold water is introduced into the external auditory meatus on one side. The immediate results are usually vertigo, nausea, nystagmus, and twisting of the head and body.
subclass of: HP_0011389
notation: HP:0001751

HP_0001752
IAO_0000231: IAO_0000227
IAO_0100001: Abnormality of the outer ear
type: Class
deprecated: true
notation: HP:0001752

HP_0001753
IAO_0000231: IAO_0000227
IAO_0100001: Sensorineural hearing impairment
type: Class
deprecated: true
notation: HP:0001753

HP_0001754
IAO_0000231: IAO_0000227
IAO_0100001: Hearing impairment
type: Class
deprecated: true
notation: HP:0001754

HP_0001755
IAO_0000231: IAO_0000227
IAO_0100001: Macrotia
type: Class
deprecated: true
notation: HP:0001755

Vestibular hypofunction
tree view: Vestibular dysfunction
IAO_0000115: Reduced functioning of the vestibular apparatus.
has db xref: UMLS:C1848606
has OBO namespace: human_phenotype
id: HP:0001756
type: Class
subclass of: Vestibular dysfunction
notation: HP:0001756

High-frequency sensorineural hearing impairment
tree view: Sensorineural hearing impairment
IAO_0000115: A form of sensorineural hearing impairment that affects primarily the higher frequencies.
has db xref: UMLS:C4021775
has exact synonym: High frequency sensorineural hearing impairment
has exact synonym: High-tone sensorineural deafness
has exact synonym: High-tone sensorineural hearing impairment
has OBO namespace: human_phenotype
id: HP:0001757
type: Class
subclass of: Sensorineural hearing impairment
notation: HP:0001757

HP_0001758
IAO_0000231: IAO_0000227
IAO_0100001: Overfolded helix
type: Class
deprecated: true
notation: HP:0001758

HP_0001759
IAO_0000231: IAO_0000227
IAO_0100001: Abnormality of the middle ear ossicles
type: Class
deprecated: true
notation: HP:0001759

Abnormality of the foot
tree view: Abnormality of the lower limb
IAO_0000115: An abnormality of the skeleton of foot.
has alternative id: HP:0010216
has alternative id: HP:0010611
has db xref: MSH:D005530
has db xref: SNOMEDCT_US:229844004
has db xref: UMLS:C0016506
has exact synonym: Abnormal feet morphology
has exact synonym: Abnormality of the feet
has exact synonym: Abnormality of the foot
has exact synonym: Foot deformities
has exact synonym: Foot deformity
has OBO namespace: human_phenotype
id: HP:0001760
type: Class
comment: A disorder of the foot that can either be congenital or acquired. Such deformities can include hammer toe, club foot deformity, flat feet, pes cavus, congenital vertical talus (rocker bottom foot), and many others.
subclass of: Abnormality of the lower limb
notation: HP:0001760

Pes cavus
tree view: Abnormality of the foot
IAO_0000115: The presence of an unusually high plantar arch. Also called high instep, pes cavus refers to a distinctly hollow form of the sole of the foot when it is bearing weight.
has db xref: MEDDRA:10034743
has db xref: SNOMEDCT_US:205091006
has db xref: UMLS:C0728829
has exact synonym: High-arched foot
has OBO namespace: human_phenotype
id: HP:0001761
in subset: hposlim core
type: Class
subclass of: Abnormality of the foot
notation: HP:0001761

Talipes equinovarus
tree view: Talipes
IAO_0000115: Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg.
has db xref: Fyler:4171
has db xref: MEDDRA:10043106
has db xref: MSH:D003025
has db xref: SNOMEDCT_US:249808002
has db xref: SNOMEDCT_US:397932003
has db xref: UMLS:C0009081
has exact synonym: Club feet
has exact synonym: Club foot
has exact synonym: Clubfeet
has exact synonym: Clubfoot
has exact synonym: Equinovarus
has exact synonym: Foot, talipes equinovarus
has exact synonym: Pes equinovarus
has exact synonym: Pes equinus
has exact synonym: Talipes varus
has OBO namespace: human_phenotype
id: HP:0001762
in subset: hposlim core
type: Class
comment: Clubfoot is a complex, multifactorial deformity with genetic and intrauterine factors. One popular theory postulates that a clubfoot is a result of intrauterine maldevelopment of the talus that leads to adduction and plantarflexion of the foot. On radiographic projection a clubfoot can be noted as parallel axes of talus and calcaneus.
subclass of: Talipes
notation: HP:0001762

Pes planus
tree view: Abnormality of the foot
IAO_0000115: A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced.
has db xref: MSH:D005413
has db xref: SNOMEDCT_US:203534009
has db xref: SNOMEDCT_US:53226007
has db xref: UMLS:C0016202
has db xref: UMLS:C0264133
has exact synonym: Flat feet
has exact synonym: Flat foot
has OBO namespace: human_phenotype
has related synonym: Dropped arches
has related synonym: Fallen arches
id: HP:0001763
in subset: hposlim core
type: Class
comment: 'has part' some (flat and ('inheres in' some 'Longitudinal arch of foot (adult human)') and ('has modifier' some abnormal))
subclass of: Abnormality of the foot
notation: HP:0001763

HP_0001764
IAO_0000231: IAO_0000227
IAO_0100001: Short foot
type: Class
deprecated: true
notation: HP:0001764

Hammertoe
tree view: Abnormality of toe
IAO_0000115: Hyperextension of the metatarsal-phalangeal joint with hyperflexion of the proximal interphalangeal (PIP) joint.
has db xref: MSH:D037801
has db xref: SNOMEDCT_US:122481008
has db xref: UMLS:C1136179
has exact synonym: Hammer toe
has exact synonym: Hammertoe
has exact synonym: Hammertoes
has OBO namespace: human_phenotype
id: HP:0001765
in subset: hposlim core
type: Class
subclass of: Abnormality of toe
notation: HP:0001765

HP_0001766
IAO_0000231: IAO_0000227
IAO_0100001: Short foot
type: Class
deprecated: true
notation: HP:0001766

HP_0001767
IAO_0000231: IAO_0000227
IAO_0100001: Short toe
type: Class
deprecated: true
notation: HP:0001767

HP_0001768
IAO_0000231: IAO_0000227
IAO_0100001: Metatarsus adductus
type: Class
deprecated: true
notation: HP:0001768

Broad foot
tree view: Abnormality of the foot
IAO_0000115: A foot for which the measured width is above the 95th centile for age; or, a foot that appears disproportionately wide for its length.
has db xref: UMLS:C1866241
has exact synonym: Broad feet
has exact synonym: Broad foot
has exact synonym: Wide foot
has OBO namespace: human_phenotype
id: HP:0001769
in subset: hposlim core
type: Class
subclass of: Abnormality of the foot
notation: HP:0001769

Toe syndactyly
tree view: Syndactyly
tree view: Abnormality of toe
IAO_0000115: Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are referred to as "Symphalangism".
has alternative id: HP:0001828
has alternative id: HP:0005677
has db xref: SNOMEDCT_US:32113001
has db xref: UMLS:C0265660
has exact synonym: Foot syndactyly
has exact synonym: Fused toes
has exact synonym: Syndactyly of feet
has exact synonym: Syndactyly of toes
has exact synonym: Webbed toes
has OBO namespace: human_phenotype
id: HP:0001770
type: Class
subclass of: Syndactyly
subclass of: Abnormality of toe
notation: HP:0001770

Achilles tendon contracture
tree view: HP_0005109
tree view: HP_0008366
IAO_0000115: A contracture of the Achilles tendon.
has alternative id: HP:0004711
has alternative id: HP:0005031
has alternative id: HP:0006430
has db xref: SNOMEDCT_US:203076007
has db xref: UMLS:C0410264
has exact synonym: Achilles tendon contractures
has exact synonym: Contractures of the Achilles tendon
has exact synonym: Shortening of the achilles tendon
has exact synonym: Tight achilles tendon
has OBO namespace: human_phenotype
id: HP:0001771
type: Class
subclass of: HP_0005109
subclass of: HP_0008366
notation: HP:0001771

Talipes equinovalgus
tree view: Talipes
IAO_0000115: A deformity of foot and ankle in which the foot is bent down and outwards.
has db xref: MSH:D004863
has db xref: SNOMEDCT_US:68284008
has db xref: UMLS:C0265642
has db xref: UMLS:C4020866
has OBO namespace: human_phenotype
has related synonym: Equinovalgus deformity
id: HP:0001772
type: Class
subclass of: Talipes
notation: HP:0001772

Short foot
tree view: HP_0006494
IAO_0000115: A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective).
has alternative id: HP:0001764
has alternative id: HP:0001766
has alternative id: HP:0001778
has alternative id: HP:0008135
has db xref: UMLS:C1848673
has exact synonym: Hypoplastic feet
has exact synonym: Short feet
has exact synonym: Short foot
has exact synonym: Small feet
has OBO namespace: human_phenotype
id: HP:0001773
type: Class
subclass of: HP_0006494
notation: HP:0001773

HP_0001774
IAO_0000231: IAO_0000227
IAO_0100001: Calcaneovalgus deformity
type: Class
deprecated: true
notation: HP:0001774

Tarsal osteovalgus
tree view: HP_0008365
has db xref: UMLS:C4025748
has OBO namespace: human_phenotype
id: HP:0001775
type: Class
subclass of: HP_0008365
notation: HP:0001775

Bilateral talipes equinovarus
tree view: Talipes equinovarus
IAO_0000115: Bilateral clubfoot deformity (see HP:0001762).
has db xref: UMLS:C1837835
has exact synonym: Bilateral clubfeet
has exact synonym: Bilateral clubfoot
has exact synonym: Club foot on both sides
has OBO namespace: human_phenotype
id: HP:0001776
type: Class
subclass of: Talipes equinovarus
notation: HP:0001776

HP_0001777
IAO_0000231: IAO_0000227
IAO_0100001: Foot oligodactyly
type: Class
deprecated: true
notation: HP:0001777

HP_0001778
IAO_0000231: IAO_0000227
IAO_0100001: Short foot
type: Class
deprecated: true
notation: HP:0001778

HP_0001779
IAO_0000231: IAO_0000227
IAO_0100001: HP_0010743
type: Class
deprecated: true
notation: HP:0001779

Abnormality of toe
tree view: Abnormality of the foot
tree view: HP_0011297
IAO_0000115: An anomaly of a toe.
has db xref: UMLS:C2674738
has exact synonym: Abnormalities of the toes
has exact synonym: Abnormality of toe
has OBO namespace: human_phenotype
id: HP:0001780
in subset: hposlim core
type: Class
subclass of: Abnormality of the foot
subclass of: HP_0011297
notation: HP:0001780

HP_0001781
IAO_0000231: IAO_0000227
IAO_0100001: Short toe
type: Class
deprecated: true
notation: HP:0001781

Bulbous tips of toes
tree view: Abnormality of toe
IAO_0000115: An abnormality of the morphology of the toes, such that the tips of the toes are prominent and bulbous.
has db xref: UMLS:C4025747
has OBO namespace: human_phenotype
id: HP:0001782
type: Class
subclass of: Abnormality of toe
notation: HP:0001782

Broad metatarsal
tree view: Abnormal metatarsal morphology
IAO_0000115: Increased side-to-side width of a metatarsal bone.
has alternative id: HP:0005907
has alternative id: HP:0008106
has db xref: UMLS:C1842231
has db xref: UMLS:C1850161
has exact synonym: Wide long bone of foot
has OBO namespace: human_phenotype
has related synonym: Broad metatarsals
has related synonym: Widened metatarsal shaft
id: HP:0001783
type: Class
subclass of: Abnormal metatarsal morphology
notation: HP:0001783

HP_0001784
IAO_0000231: IAO_0000227
IAO_0100001: HP_0010066
type: Class
deprecated: true
notation: HP:0001784

Ankle swelling
tree view: Abnormality of the ankles
has db xref: SNOMEDCT_US:26237000
has db xref: SNOMEDCT_US:267039000
has db xref: UMLS:C0235439
has exact synonym: Ankle swelling
has OBO namespace: human_phenotype
id: HP:0001785
type: Class
subclass of: Abnormality of the ankles
notation: HP:0001785

Narrow foot
tree view: Abnormality of the foot
IAO_0000115: A foot for which the measured width is below the 5th centile for age; or, a foot that appears disproportionately narrow for its length.
has db xref: SNOMEDCT_US:299464006
has db xref: UMLS:C0576227
has exact synonym: Narrow foot
has exact synonym: Slender feet
has OBO namespace: human_phenotype
id: HP:0001786
in subset: hposlim core
type: Class
subclass of: Abnormality of the foot
notation: HP:0001786

Abnormal delivery
tree view: Abnormality of prenatal development or birth
IAO_0000115: An abnormality of the birth process.
has db xref: SNOMEDCT_US:274127000
has db xref: UMLS:C0549629
has exact synonym: Abnormal delivery
has exact synonym: Delivery complication
has OBO namespace: human_phenotype
id: HP:0001787
type: Class
subclass of: Abnormality of prenatal development or birth
notation: HP:0001787

Premature rupture of membranes
tree view: Abnormal delivery
IAO_0000115: Premature rupture of membranes (PROM) is a condition which occurs in pregnancy when the amniotic sac ruptures more than an hour before the onset of labor.
has alternative id: HP:0002163
has db xref: MSH:D005322
has db xref: SNOMEDCT_US:237266003
has db xref: SNOMEDCT_US:44223004
has db xref: UMLS:C0015944
has OBO namespace: human_phenotype
id: HP:0001788
type: Class
subclass of: Abnormal delivery
notation: HP:0001788

Hydrops fetalis
tree view: Edema
tree view: Abnormality of prenatal development or birth
IAO_0000115: The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema.
has db xref: MSH:D015160
has db xref: SNOMEDCT_US:276508000
has db xref: UMLS:C0020305
has OBO namespace: human_phenotype
id: HP:0001789
type: Class
comment: The most common causes of hydrops fetalis are hematologic (inclusing isoimmunization because of Rhesus incompatibility and other causes), hereditary hemolytic disorders, fetal hemorrhage, disorders of red cell production), cardiovascular disorders, infections, certain intrathoracic malformations, and idiopathic forms.
subclass of: Edema
subclass of: Abnormality of prenatal development or birth
notation: HP:0001789

Nonimmune hydrops fetalis
tree view: Hydrops fetalis
IAO_0000115: A type of hydrops fetalis in which there is no identifiable circulating antibody to red blood cell antigens .
has db xref: MSH:D015160
has db xref: SNOMEDCT_US:206538000
has db xref: SNOMEDCT_US:276509008
has db xref: UMLS:C0455988
has exact synonym: Hydrops fetalis, non-immune
has exact synonym: Hydrops fetalis, nonimmune
has exact synonym: Non-immune fetal hydrops
has exact synonym: Nonimmune hydrops
has OBO namespace: human_phenotype
id: HP:0001790
type: Class
subclass of: Hydrops fetalis
notation: HP:0001790

Fetal ascites
tree view: Abnormality of prenatal development or birth
tree view: Ascites
IAO_0000115: Accumulation of fluid in the peritoneal cavity during the fetal period.
has db xref: SNOMEDCT_US:363125002
has db xref: UMLS:C1285291
has OBO namespace: human_phenotype
id: HP:0001791
type: Class
subclass of: Abnormality of prenatal development or birth
subclass of: Ascites
notation: HP:0001791

Small nail
tree view: HP_0008386
IAO_0000115: A nail that is diminished in length and width, i.e., underdeveloped nail.
has alternative id: HP:0001813
has db xref: SNOMEDCT_US:11375002
has db xref: UMLS:C0263523
has exact synonym: Hypoplastic nail
has exact synonym: Hypoplastic nails
has exact synonym: Nail hypoplasia
has exact synonym: Small nail
has exact synonym: Small nails
has OBO namespace: human_phenotype
id: HP:0001792
type: Class
subclass of: HP_0008386
notation: HP:0001792

HP_0001793
IAO_0000231: IAO_0000227
IAO_0100001: Nail dysplasia
type: Class
deprecated: true
notation: HP:0001793

HP_0001794
IAO_0000231: IAO_0000227
IAO_0100001: Nail dysplasia
type: Class
deprecated: true
notation: HP:0001794

Hyperconvex nail
tree view: Nail dysplasia
IAO_0000115: When viewed on end (with the digit tip pointing toward the examiner's eye) the curve of the nail forms a tighter curve of convexity.
has alternative id: HP:0008413
has db xref: SNOMEDCT_US:247487009
has db xref: UMLS:C0423807
has exact synonym: Increased nail curvature
has exact synonym: Nail overcurvature
has OBO namespace: human_phenotype
id: HP:0001795
in subset: hposlim core
type: Class
comment: No objective standards were identified for this finding. Another way to describe this finding is to say that the observed curve has a smaller radius than does the typical nail. The affected digits should be specified.
subclass of: Nail dysplasia
notation: HP:0001795

HP_0001796
IAO_0000231: IAO_0000227
IAO_0100001: Fragile nails
type: Class
deprecated: true
notation: HP:0001796

HP_0001797
IAO_0000231: IAO_0000227
IAO_0100001: Nail dysplasia
type: Class
deprecated: true
notation: HP:0001797

Anonychia
tree view: HP_0008386
IAO_0000115: Aplasia of the nail.
has alternative id: HP:0007593
has alternative id: HP:0008384
has db xref: MSH:C536377
has db xref: SNOMEDCT_US:23610003
has db xref: UMLS:C0265998
has exact synonym: Absent nails
has exact synonym: Aplastic nails
has OBO namespace: human_phenotype
id: HP:0001798
in subset: hposlim core
type: Class
comment: Total absence of nails.
subclass of: HP_0008386
notation: HP:0001798

Short nail
tree view: HP_0008386
IAO_0000115: Decreased length of nail.
has alternative id: HP:0200075
has db xref: SNOMEDCT_US:247488004
has db xref: UMLS:C0423808
has exact synonym: Short nail
has exact synonym: Short nails
has OBO namespace: human_phenotype
id: HP:0001799
in subset: hposlim core
type: Class
comment: Use this designation when the length is reduced but the width is normal.
subclass of: HP_0008386
notation: HP:0001799

Hypoplastic toenails
tree view: Small nail
tree view: HP_0010624
IAO_0000115: Underdevelopment of the toenail.
has db xref: UMLS:C1837279
has exact synonym: Underdeveloped toenails
has OBO namespace: human_phenotype
id: HP:0001800
type: Class
subclass of: Small nail
subclass of: HP_0010624
notation: HP:0001800

HP_0001801
IAO_0000231: IAO_0000227
IAO_0100001: Ridged nail
type: Class
deprecated: true
notation: HP:0001801

Absent toenail
tree view: Anonychia
tree view: HP_0010624
IAO_0000115: Congenital absence of the toenail.
has db xref: UMLS:C1844555
has exact synonym: Absent toenail
has OBO namespace: human_phenotype
has related synonym: Absent toenails
has related synonym: Absent toenails (anonychia)
has related synonym: Anonychia of toenails
id: HP:0001802
in subset: hposlim core
type: Class
subclass of: Anonychia
subclass of: HP_0010624
notation: HP:0001802

Nail pits
tree view: Nail dysplasia
IAO_0000115: Small (typically about 1 mm or less in size) depressions on the dorsal nail surface.
has db xref: MEDDRA:10028702
has db xref: SNOMEDCT_US:89704006
has db xref: UMLS:C0150993
has exact synonym: Nail pits
has exact synonym: Nail pitting
has exact synonym: Pitted nails
has OBO namespace: human_phenotype
id: HP:0001803
in subset: secondary consequence
type: Class
subclass of: Nail dysplasia
notation: HP:0001803

Hypoplastic fingernail
tree view: Abnormal fingernail morphology
tree view: Small nail
IAO_0000115: Underdevelopment of a fingernail.
has db xref: UMLS:C1856786
has exact synonym: Small fingernail
has exact synonym: Underdeveloped fingernail
has OBO namespace: human_phenotype
id: HP:0001804
type: Class
subclass of: Abnormal fingernail morphology
subclass of: Small nail
notation: HP:0001804

Onychogryposis
tree view: Abnormality of the nail
IAO_0000115: Nail that appears thick when viewed on end.
has alternative id: HP:0001819
has alternative id: HP:0200088
has db xref: SNOMEDCT_US:52897009
has db xref: UMLS:C0263537
has exact synonym: Dystrophic thickened nails
has exact synonym: Thick nail
has exact synonym: Thickened nails
has OBO namespace: human_phenotype
id: HP:0001805
type: Class
comment: There is a build up of keratin causing the nail plate to lift away from the nail bed. The thickened nail plate is usually very hard. Onychauxis and onychogryposis are dystrophic diseases of the nail in which the nail plate becomes decidedly hypertrophied. The differentiation of the two entities is only one of degree of severity.
subclass of: Abnormality of the nail
notation: HP:0001805

Onycholysis
tree view: Abnormality of the nail
IAO_0000115: Detachment of the nail from the nail bed.
has db xref: MEDDRA:10030337
has db xref: MSH:D054039
has db xref: SNOMEDCT_US:75789001
has db xref: UMLS:C0085661
has exact synonym: Detachment of nail
has exact synonym: Oncholysis
has OBO namespace: human_phenotype
id: HP:0001806
in subset: hposlim core
type: Class
subclass of: Abnormality of the nail
notation: HP:0001806

Ridged nail
tree view: Nail dysplasia
IAO_0000115: Longitudinal, linear prominences in the nail plate.
has alternative id: HP:0001801
has alternative id: HP:0001811
has db xref: SNOMEDCT_US:271768001
has db xref: UMLS:C0423820
has exact synonym: Grooved nails
has exact synonym: Longitudinal ridging
has exact synonym: Nail ridging
has OBO namespace: human_phenotype
has related synonym: Ridged nails
id: HP:0001807
in subset: hposlim core
type: Class
comment: There may be only one, or several ridges. The affected digits should be specified.
subclass of: Nail dysplasia
notation: HP:0001807

Fragile nails
tree view: Abnormality of the nail
IAO_0000115: Nails that easily break.
has alternative id: HP:0001796
has db xref: UMLS:C1856963
has exact synonym: Brittle nails
has OBO namespace: human_phenotype
id: HP:0001808
type: Class
subclass of: Abnormality of the nail
notation: HP:0001808

Split nail
tree view: Nail dysplasia
IAO_0000115: A nail plate that has a longitudinal separation and the two sections of the nail share the same lateral radius of curvature.
has db xref: SNOMEDCT_US:85136002
has db xref: UMLS:C0263530
has exact synonym: Longitudinal splitting of nail
has OBO namespace: human_phenotype
id: HP:0001809
type: Class
comment: This is distinct from Fused nail, where the two parts of the nail have a separate radius of curvature. The affected digits should be specified as described in the introductory comments.
subclass of: Nail dysplasia
notation: HP:0001809

Dystrophic toenail
tree view: HP_0008388
tree view: HP_0008404
IAO_0000115: Toenail changes apart from changes of the color of the toenail (nail dyschromia) that involve partial or complete disruption of the various keratinous layers of the nail plate.
has alternative id: HP:0007558
has db xref: UMLS:C1833225
has exact synonym: Dystrophic toenail changes
has exact synonym: Poor toenail formation
has OBO namespace: human_phenotype
has related synonym: Dystrophic toenails
id: HP:0001810
type: Class
subclass of: HP_0008388
subclass of: HP_0008404
notation: HP:0001810

HP_0001811
IAO_0000231: IAO_0000227
IAO_0100001: Ridged nail
type: Class
deprecated: true
notation: HP:0001811

Hyperconvex fingernails
tree view: Hyperconvex nail
IAO_0000115: When viewed on end (with the finger tip pointing toward the examiner's eye) the curve of the fingernail forms a tighter curve of convexity.
has alternative id: HP:0008380
has db xref: UMLS:C1844825
has exact synonym: Tubular fingernails
has OBO namespace: human_phenotype
id: HP:0001812
type: Class
subclass of: Hyperconvex nail
notation: HP:0001812

HP_0001813
IAO_0000231: IAO_0000227
IAO_0100001: Small nail
type: Class
deprecated: true
notation: HP:0001813

Deep-set nails
tree view: Nail dysplasia
IAO_0000115: Deeply placed nails.
has db xref: UMLS:C3277753
has exact synonym: Deep-set nails
has OBO namespace: human_phenotype
id: HP:0001814
type: Class
subclass of: Nail dysplasia
notation: HP:0001814

HP_0001815
IAO_0000231: IAO_0000227
IAO_0100001: Concave nail
type: Class
deprecated: true
notation: HP:0001815

Thin nail
tree view: Abnormality of the nail
IAO_0000115: Nail that appears thin when viewed on end.
has db xref: SNOMEDCT_US:63829008
has db xref: UMLS:C0423823
has exact synonym: Thin nail
has exact synonym: Thin nails
has OBO namespace: human_phenotype
id: HP:0001816
in subset: hposlim core
type: Class
comment: No objective standard for nail thickness could be identified. An unsupported claim suggests that nails are 0.5 mm in females and 0.6 mm in males. Thin nails are usually brittle, may easily fray, or break at the free edge. Thin nails usually grow slowly but this definition does not require slow growth of the nail. Note that the term koilonychia is an abnormal shape of the fingernail where the nail has raised ridges and is thin and concave. Since it indicates also other characteristics than thin nails, it should not be used to indicate this. The affected digits should be specified.
subclass of: Abnormality of the nail
notation: HP:0001816

Absent fingernail
tree view: Anonychia
IAO_0000115: Absence of a fingernail.
has db xref: UMLS:C1844554
has exact synonym: Absent fingernail
has exact synonym: Aplasia of the fingernail
has OBO namespace: human_phenotype
has related synonym: Anonychia of fingernails
id: HP:0001817
in subset: hposlim core
type: Class
subclass of: Anonychia
notation: HP:0001817

Paronychia
tree view: HP_0100803
IAO_0000115: The nail disease paronychia is an often-tender bacterial or fungal hand infection or foot infection where the nail and skin meet at the side or the base of a finger or toenail. The infection can start suddenly (acute paronychia) or gradually (chronic paronychia).
has db xref: MEDDRA:10034016
has db xref: MSH:D010304
has db xref: SNOMEDCT_US:71906005
has db xref: UMLS:C0030578
has OBO namespace: human_phenotype
id: HP:0001818
in subset: hposlim core
type: Class
subclass of: HP_0100803
notation: HP:0001818

HP_0001819
IAO_0000231: IAO_0000227
IAO_0100001: Onychogryposis
type: Class
deprecated: true
notation: HP:0001819

Leukonychia
tree view: HP_0100643
IAO_0000115: White discoloration of the nails.
has db xref: MEDDRA:10050658
has db xref: SNOMEDCT_US:111202002
has db xref: UMLS:C0240182
has exact synonym: White discoloration of nails
has OBO namespace: human_phenotype
id: HP:0001820
type: Class
subclass of: HP_0100643
notation: HP:0001820

Broad nail
tree view: Nail dysplasia
IAO_0000115: Increased width of nail.
has alternative id: HP:0008406
has db xref: UMLS:C1843112
has exact synonym: Broad fingernails
has exact synonym: Broad nail
has exact synonym: Wide fingernails
has OBO namespace: human_phenotype
id: HP:0001821
type: Class
subclass of: Nail dysplasia
notation: HP:0001821

Hallux valgus
tree view: HP_0010051
IAO_0000115: Lateral deviation of the great toe (i.e., in the direction of the little toe).
has alternative id: HP:0004682
has db xref: MSH:D000071378
has db xref: MSH:D006215
has db xref: SNOMEDCT_US:122480009
has db xref: SNOMEDCT_US:415692008
has db xref: UMLS:C0006386
has db xref: UMLS:C0018536
has exact synonym: Bunion
has exact synonym: Lateral deviation of great toe
has exact synonym: Lateral deviation of halluces
has OBO namespace: human_phenotype
id: HP:0001822
type: Class
subclass of: HP_0010051
notation: HP:0001822

HP_0001823
IAO_0000231: IAO_0000227
IAO_0100001: Decreased body weight
type: Class
deprecated: true
notation: HP:0001823

Weight loss
tree view: Decreased body weight
IAO_0000115: Reduction inexisting body weight.
has db xref: MSH:D015431
has db xref: SNOMEDCT_US:161832001
has db xref: SNOMEDCT_US:262285001
has db xref: SNOMEDCT_US:89362005
has db xref: UMLS:C1262477
has OBO namespace: human_phenotype
id: HP:0001824
type: Class
subclass of: Decreased body weight
notation: HP:0001824

HP_0001825
IAO_0000231: IAO_0000227
IAO_0100001: Large for gestational age
type: Class
deprecated: true
notation: HP:0001825

HP_0001826
IAO_0000231: IAO_0000227
IAO_0100001: Decreased body weight
type: Class
deprecated: true
notation: HP:0001826

Genital tract atresia
tree view: HP_0012243
IAO_0000115: Congenital occlusion of a tube in the genital tract.
created by: peter
creation date: 2008-02-27T04:08:00Z
has alternative id: HP:0001534
has db xref: UMLS:C4025746
has OBO namespace: human_phenotype
id: HP:0001827
type: Class
subclass of: HP_0012243
notation: HP:0001827

HP_0001828
IAO_0000231: IAO_0000227
IAO_0100001: Toe syndactyly
type: Class
deprecated: true
notation: HP:0001828

Foot polydactyly
tree view: Abnormality of toe
tree view: HP_0009136
tree view: HP_0010442
IAO_0000115: A kind of polydactyly characterized by the presence of a supernumerary toe or toes.
has alternative id: HP:0009135
has db xref: SNOMEDCT_US:62218008
has db xref: UMLS:C0158734
has exact synonym: Duplication of bones of the toes
has exact synonym: Polydactyly of feet
has exact synonym: Polydactyly of the foot
has OBO namespace: human_phenotype
id: HP:0001829
in subset: hposlim core
type: Class
subclass of: Abnormality of toe
subclass of: HP_0009136
subclass of: HP_0010442
notation: HP:0001829

Postaxial foot polydactyly
tree view: Foot polydactyly
tree view: HP_0010322
tree view: HP_0100259
IAO_0000115: Polydactyly of the foot most commonly refers to the presence of six toes on one foot. Postaxial polydactyly affects the lateral ray and the duplication may range from a well-formed articulated digit to a rudimentary digit.
has alternative id: HP:0010346
has db xref: UMLS:C2112129
has db xref: UMLS:C4020865
has exact synonym: Extra toe attached near the little toe
has exact synonym: Polydactyly affecting the 5th toe
has exact synonym: Postaxial polydactyly of feet
has exact synonym: Postaxial polydactyly of foot
has exact synonym: Posterior polydactyly of foot
has OBO namespace: human_phenotype
has related synonym: Fibular polydactyly
id: HP:0001830
type: Class
comment: The modifier postaxial means that the supernumerary digit is not a hallux.
subclass of: Foot polydactyly
subclass of: HP_0010322
subclass of: HP_0100259
notation: HP:0001830

Short toe
tree view: Aplasia/Hypoplasia of toe
tree view: HP_0011927
IAO_0000115: A toe that appears disproportionately short compared to the foot.
has alternative id: HP:0001767
has alternative id: HP:0001781
has alternative id: HP:0001855
has alternative id: HP:0004701
has alternative id: HP:0005889
has alternative id: HP:0008099
has db xref: UMLS:C1836195
has exact synonym: Brachydactyly of the foot
has exact synonym: Hypoplasia of the toe
has exact synonym: Hypoplastic toes
has exact synonym: Short foot phalanges
has exact synonym: Short toe
has exact synonym: Short toes
has exact synonym: Stubby toes
has OBO namespace: human_phenotype
id: HP:0001831
in subset: hposlim core
type: Class
comment: This finding must be distinguished from digits that are of increased girth but of normal length and that of a long mid- and hind foot with normal digit lengths. The affected digits should be specified as described in the introductory comments. Note that we designate brachydactyly as a synonym, but this use of the term is distinct from the use of the same word in Bell's classification of brachdactyly.
subclass of: Aplasia/Hypoplasia of toe
subclass of: HP_0011927
notation: HP:0001831

Abnormal metatarsal morphology
tree view: Abnormality of the foot
tree view: HP_0040069
IAO_0000115: Abnormalities of the metatarsal bones (i.e. of five tubular bones located between the tarsal bones of the hind- and mid-foot and the phalanges of the toes).
has db xref: UMLS:C4025745
has exact synonym: Abnormality of the long bone of foot
has OBO namespace: human_phenotype
id: HP:0001832
type: Class
subclass of: Abnormality of the foot
subclass of: HP_0040069
notation: HP:0001832

Long foot
tree view: Abnormality of the foot
IAO_0000115: Increased back to front length of the foot.
has alternative id: HP:0008136
has alternative id: HP:0008143
has db xref: SNOMEDCT_US:299462005
has db xref: UMLS:C0576225
has exact synonym: Disproportionately large feet
has exact synonym: Long foot
has exact synonym: large feet
has exact synonym: long feet
has OBO namespace: human_phenotype
id: HP:0001833
in subset: hposlim core
type: Class
subclass of: Abnormality of the foot
notation: HP:0001833

HP_0001834
IAO_0000231: IAO_0000227
IAO_0100001: HP_0010055
type: Class
deprecated: true
notation: HP:0001834

HP_0001835
IAO_0000231: IAO_0000227
IAO_0100001: Rocker bottom foot
type: Class
deprecated: true
notation: HP:0001835

Camptodactyly of toe
tree view: HP_0005830
tree view: HP_0012385
IAO_0000115: Camptodactyly is a painless flexion contracture of the proximal interphalangeal (PIP) joint that is usually gradually progressive. This term refers to camptodactyly of one or more toes.
has db xref: UMLS:C4021774
has exact synonym: Camptodactyly of feet
has OBO namespace: human_phenotype
id: HP:0001836
type: Class
subclass of: HP_0005830
subclass of: HP_0012385
notation: HP:0001836

Broad toe
tree view: Abnormality of toe
IAO_0000115: Visible increase in width of the non-hallux digit without an increase in the dorso-ventral dimension.
has db xref: UMLS:C1865038
has exact synonym: Broad toe
has exact synonym: Wide toe
has OBO namespace: human_phenotype
id: HP:0001837
in subset: hposlim core
type: Class
comment: Note that the girth may be increased in a broad toe, but this must be distinguished from Macrodactyly because in Macrodactyly the length is increased as well. The affected digit should be specified. Note that this assessment may be difficult when the toes are short. This term is not used for the first digit, see Broad hallux. If all five digits are broad, both terms should be used for that patient.
subclass of: Abnormality of toe
notation: HP:0001837

Rocker bottom foot
tree view: HP_0008365
IAO_0000115: The presence of both a prominent heel and a convex contour of the sole.
has alternative id: HP:0001835
has alternative id: HP:0004693
has alternative id: HP:0010218
has db xref: MEDDRA:10066242
has db xref: MSH:C536345
has db xref: MSH:D005413
has db xref: SNOMEDCT_US:205082007
has db xref: SNOMEDCT_US:205359003
has db xref: UMLS:C0240912
has exact synonym: Congenital vertical talus
has exact synonym: Rocker bottom feet
has exact synonym: Rocker bottom foot
has exact synonym: Rocker-bottom feet
has exact synonym: Rockerbottom feet
has OBO namespace: human_phenotype
id: HP:0001838
in subset: hposlim core
type: Class
comment: Congenital vertical talus is characterized by pes valgus, a rigid flatfoot deformity (as opposed to a flexible calcaneovalgus foot) caused by a malpositioned navicular bone at the neck of the talus; the ankle is in severe equinus and the forefoot in dorsiflexion, rocker bottom-like, accompanied by contraction of the talonavicular, deltoid and calcaneal cuboidal ligaments. The foot examination usually reveals a rigid foot with a "reversed" arch, a convex plantar surface, and a deep crease on the lateral dorsal side of the foot. The ankle joint is plantarflexed, while the midfoot and forefoot are extended upward. Lateral foot radiographs are helpful in confirming the diagnosis.
subclass of: HP_0008365
notation: HP:0001838

Split foot
tree view: Abnormality of the foot
tree view: HP_0100257
IAO_0000115: A condition in which middle parts of the foot (toes and metatarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe over absent 2nd or 3rd toes as far as oligo- or monodactyl feet.
has alternative id: HP:0003062
has alternative id: HP:0005904
has db xref: SNOMEDCT_US:205358006
has db xref: UMLS:C0432028
has exact synonym: Foot ectrodactyly
has exact synonym: Lobster-claw foot deformity
has exact synonym: Split foot
has exact synonym: Split-foot
has OBO namespace: human_phenotype
id: HP:0001839
in subset: hposlim core
type: Class
subclass of: Abnormality of the foot
subclass of: HP_0100257
notation: HP:0001839

Metatarsus adductus
tree view: Abnormal metatarsal morphology
IAO_0000115: The metatarsals are deviated medially (tibially), that is, the bones in the front half of the foot bend or turn in toward the body.
has alternative id: HP:0001768
has alternative id: HP:0010217
has db xref: MSH:D000070592
has db xref: SNOMEDCT_US:77599005
has db xref: UMLS:C0231791
has db xref: UMLS:C4082169
has exact synonym: Forefoot varus
has exact synonym: Front half of foot turns inward
has exact synonym: Metatarsus adductovarsus
has exact synonym: Metatarsus varus
has OBO namespace: human_phenotype
has related synonym: Intoe
id: HP:0001840
in subset: hposlim core
type: Class
comment: Metatarsus varus (adductus) is one of the most common foot deformities, that is defined as a transverse plane deformity in Lisfranc's (tarsometatarsal) joints in which the metatarsals are deviated medially. The relationship between talus and calcaneus is normal. On inspection the toes angle abruptly towards the midline, creating a C-shaped lateral foot border with a prominent styloid process of the 5th metatarsal. The result is that the forefoot is twisted inwards relative to the heel, so that the sole faces the midline.
subclass of: Abnormal metatarsal morphology
notation: HP:0001840

Preaxial foot polydactyly
tree view: Foot polydactyly
tree view: Abnormality of the hallux
tree view: HP_0100258
IAO_0000115: Duplication of all or part of the first ray.
has alternative id: HP:0009607
has alternative id: HP:0010050
has db xref: MSH:C566632
has db xref: UMLS:C1866339
has db xref: UMLS:C2112942
has exact synonym: Partial/complete duplication of the phalanges of the big toe
has exact synonym: Polydactyly affecting the hallux
has exact synonym: Preaxial hallucal polydactyly
has exact synonym: Preaxial polydactyly of feet
has exact synonym: Preaxial polydactyly of foot
has exact synonym: Preaxial polydactyly of the feet
has exact synonym: Preaxial polydactyly, feet
has OBO namespace: human_phenotype
id: HP:0001841
type: Class
comment: This term applies for a wide variety of partial and/or complete duplications of the phalanges of the big toe (sometimes including the 1st metatarsal). A partial duplication can present itself on x-rays as a notched phalanx, bifid phalanx or a broadened phalanx. Polydactyly affecting the big toe is called preaxial or hallucal polydactyly of the feet.
subclass of: Foot polydactyly
subclass of: Abnormality of the hallux
subclass of: HP_0100258
notation: HP:0001841

Foot acroosteolysis
tree view: HP_0010177
has db xref: UMLS:C4025744
has exact synonym: Acroosteolysis of feet
has OBO namespace: human_phenotype
id: HP:0001842
type: Class
subclass of: HP_0010177
notation: HP:0001842

HP_0001843
IAO_0000231: IAO_0000227
IAO_0100001: HP_0010109
type: Class
deprecated: true
notation: HP:0001843

Abnormality of the hallux
tree view: Abnormality of toe
IAO_0000115: This term applies for all abnormalities of the big toe, also called hallux.
has db xref: UMLS:C4021773
has exact synonym: Abnormalities of the hallux
has exact synonym: Abnormality of the big toe
has OBO namespace: human_phenotype
id: HP:0001844
in subset: hposlim core
type: Class
subclass of: Abnormality of toe
notation: HP:0001844

Overlapping toe
tree view: Abnormality of toe
IAO_0000115: Describes a foot digit resting on the dorsal surface of an adjacent digit when the foot is at rest.
has db xref: SNOMEDCT_US:203541003
has db xref: UMLS:C0920299
has exact synonym: Overlapping toe
has exact synonym: Overlapping toes
has exact synonym: Overriding toes
has OBO namespace: human_phenotype
has related synonym: Crossover toe
id: HP:0001845
in subset: hposlim core
type: Class
comment: This descriptor is ordered depending on which toes are involved. The overriding toe is labeled, as specified in the introduction (item 3): e.g., T3,4. The ordering of the numbers specifies which toe is dorsal, i.e., with dorsum of the foot facing upward the toe on top is/are recorded first separated by a comma from the digit that is/are overlapped. Toes that are laterally deviated, but do not rest on top of adjacent toes should be coded as Clinodactyly.
subclass of: Abnormality of toe
notation: HP:0001845

HP_0001846
IAO_0000231: IAO_0000227
IAO_0100001: 2-3 toe syndactyly
type: Class
deprecated: true
notation: HP:0001846

Long hallux
tree view: Abnormality of the hallux
tree view: HP_0010511
IAO_0000115: Increased length of the big toe.
has alternative id: HP:0001867
has db xref: UMLS:C1864375
has exact synonym: Increased length of the hallux
has exact synonym: Large halluces
has exact synonym: Long big toe
has exact synonym: Long halluces
has OBO namespace: human_phenotype
id: HP:0001847
in subset: hposlim core
type: Class
subclass of: Abnormality of the hallux
subclass of: HP_0010511
notation: HP:0001847

Calcaneovalgus deformity
tree view: HP_0008119
tree view: HP_0008364
IAO_0000115: This is a postural deformity in which the foot is positioned up against the tibia. The heel (calcaneus) is positioned downward (that is, the ankle is flexed upward), and the heel is turned outward (valgus).
has alternative id: HP:0001774
has alternative id: HP:0008120
has broad synonym: Foot and ankle bend up toward shin of leg
has db xref: UMLS:C1860450
has exact synonym: Calcaneovalgus
has exact synonym: Calcaneovalgus Foot
has exact synonym: Valgus position of the calcaneus
has OBO namespace: human_phenotype
id: HP:0001848
type: Class
comment: Calcaneovalgus deformity may be related to abnormal positioning of the foot in utero and can resolve spontaneously after birth.
subclass of: HP_0008119
subclass of: HP_0008364
notation: HP:0001848

Foot oligodactyly
tree view: HP_0010760
tree view: HP_0012165
IAO_0000115: A developmental defect resulting in the presence of fewer than the normal number of toes.
has alternative id: HP:0001777
has db xref: SNOMEDCT_US:249820005
has db xref: UMLS:C0426934
has exact synonym: Missing toes
has exact synonym: Oligodactyly of feet
has OBO namespace: human_phenotype
id: HP:0001849
in subset: hposlim core
type: Class
subclass of: HP_0010760
subclass of: HP_0012165
notation: HP:0001849

Abnormality of the tarsal bones
tree view: Abnormality of the foot
tree view: HP_0040069
IAO_0000115: An abnormality of the tarsus are the cluster of seven bones in the foot between the tibia and fibula and the metatarsus, including the calcaneus (heel) bone and the talus (ankle) bone.
has db xref: UMLS:C1862136
has exact synonym: Abnormal ankle bones
has exact synonym: Abnormal tarsals
has OBO namespace: human_phenotype
id: HP:0001850
type: Class
subclass of: Abnormality of the foot
subclass of: HP_0040069
notation: HP:0001850

HP_0001851
IAO_0000231: IAO_0000227
IAO_0100001: HP_0008368
type: Class
deprecated: true
notation: HP:0001851

Sandal gap
tree view: Abnormality of toe
IAO_0000115: A widely spaced gap between the first toe (the great toe) and the second toe.
has db xref: UMLS:C1840069
has exact synonym: Gap between 1st and 2nd toes
has exact synonym: Gap between first and second toe
has exact synonym: Increased space between first and second toes
has exact synonym: Sandal gap between first and second toes
has exact synonym: Space between great toe and second toe
has exact synonym: Wide space between 1st, 2nd toes
has exact synonym: Wide space between first and second toes
has exact synonym: Wide-spaced big toe
has exact synonym: Widely spaced 1st-2nd toes
has exact synonym: Widely spaced first and second toes
has exact synonym: Widened gap 1st-2nd toes
has exact synonym: Widened gap first and second toe
has OBO namespace: human_phenotype
id: HP:0001852
in subset: hposlim core
type: Class
subclass of: Abnormality of toe
notation: HP:0001852

Bifid distal phalanx of toe
tree view: HP_0009136
has alternative id: HP:0005615
has db xref: UMLS:C4021772
has exact synonym: Bifid distal phalanges of toes
has exact synonym: Bifid terminal phalanx of toe
has exact synonym: Notched outermost bones of toes
has OBO namespace: human_phenotype
id: HP:0001853
type: Class
subclass of: HP_0009136
notation: HP:0001853

Podagra
tree view: Abnormality of the foot
tree view: Gout
IAO_0000115: Gout affecting the Metatarsophalangeal joint of big toe.
has db xref: SNOMEDCT_US:67148009
has db xref: UMLS:C0221168
has exact synonym: Gout of big toe
has OBO namespace: human_phenotype
id: HP:0001854
type: Class
subclass of: Abnormality of the foot
subclass of: Gout
notation: HP:0001854

HP_0001855
IAO_0000231: IAO_0000227
IAO_0100001: Short toe
type: Class
deprecated: true
notation: HP:0001855

HP_0001856
IAO_0000231: IAO_0000227
IAO_0100001: 2-3 toe syndactyly
type: Class
deprecated: true
notation: HP:0001856

Short distal phalanx of toe
tree view: HP_0005035
tree view: HP_0010185
IAO_0000115: Short distance from the end of the toe to the most distal interphalangeal crease or distal interphalangeal joint flexion point, i.e., abnormally short distal phalanx of toe.
has db xref: UMLS:C4021771
has exact synonym: Hypoplastic distal phalanges of feet
has exact synonym: Short outermost bone of toe
has OBO namespace: human_phenotype
id: HP:0001857
type: Class
comment: This term differs from Partial absence of the toe because in that term the phalanx must be missing, whereas here it may be small, but present. Relative shortening of the distal phalanges of the toes can be harder to assess than in the fingers, as they are normally quite short. Distal phalangeal lengths can be assessed subjectively by comparing that digit segment to the rest of the digit, to other normal digits in that patient, or to typical patients of that age or build.
subclass of: HP_0005035
subclass of: HP_0010185
notation: HP:0001857

HP_0001858
IAO_0000231: IAO_0000227
IAO_0100001: HP_0006234
type: Class
deprecated: true
notation: HP:0001858

Distal foot symphalangism
tree view: HP_0010179
tree view: HP_0100235
tree view: HP_0100263
has alternative id: HP:0100236
has db xref: UMLS:C4025743
has OBO namespace: human_phenotype
id: HP:0001859
type: Class
subclass of: HP_0010179
subclass of: HP_0100235
subclass of: HP_0100263
notation: HP:0001859

HP_0001860
IAO_0000231: IAO_0000227
IAO_0100001: HP_0005830
type: Class
deprecated: true
notation: HP:0001860

HP_0001861
IAO_0000231: IAO_0000227
IAO_0100001: HP_0010109
type: Class
deprecated: true
notation: HP:0001861

obsolete Acral ulceration and osteomyelitis leading to autoamputation of the digits (feet)
IAO_0000231: IAO_0000227
IAO_0100001: HP_0006121
IAO_0100001: HP:0006121
has OBO namespace: human_phenotype
id: HP:0001862
type: Class
deprecated: true
notation: HP:0001862

Toe clinodactyly
tree view: HP_0030084
tree view: HP_0100498
IAO_0000115: Bending or curvature of a toe in the tibial direction (i.e., towards the big toe).
has broad synonym: Toe curvature
has db xref: UMLS:C4021770
has db xref: UMLS:C4280587
has exact synonym: Clinodactyly of feet
has OBO namespace: human_phenotype
id: HP:0001863
type: Class
subclass of: HP_0030084
subclass of: HP_0100498
notation: HP:0001863

Clinodactyly of the 5th toe
tree view: Toe clinodactyly
tree view: HP_0010344
IAO_0000115: Bending or curvature of a fifth toe in the tibial direction (i.e., towards the big toe).
has broad synonym: Curvature of the little toe
has broad synonym: Curvature of the pinkie toe
has broad synonym: Curvature of the pinky toe
has db xref: UMLS:C4025741
has db xref: UMLS:C4280586
has OBO namespace: human_phenotype
id: HP:0001864
type: Class
subclass of: Toe clinodactyly
subclass of: HP_0010344
notation: HP:0001864

HP_0001865
IAO_0000231: IAO_0000227
IAO_0100001: HP_0010743
type: Class
deprecated: true
notation: HP:0001865

HP_0001866
IAO_0000231: IAO_0000227
IAO_0100001: Metatarsal osteolysis
type: Class
deprecated: true
notation: HP:0001866

HP_0001867
IAO_0000231: IAO_0000227
IAO_0100001: Long hallux
type: Class
deprecated: true
notation: HP:0001867

Autoamputation of foot
tree view: Autoamputation
tree view: Abnormality of the foot
IAO_0000115: Spontaneous detachment of a foot from the body.
has db xref: UMLS:C4025740
has OBO namespace: human_phenotype
id: HP:0001868
type: Class
subclass of: Autoamputation
subclass of: Abnormality of the foot
notation: HP:0001868

Deep plantar creases
tree view: HP_0100872
IAO_0000115: The presence of unusually deep creases (ridges/wrinkles) on the skin of sole of foot.
has db xref: UMLS:C1857953
has exact synonym: Deep wrinkles in soles of feet
has OBO namespace: human_phenotype
id: HP:0001869
type: Class
subclass of: HP_0100872
notation: HP:0001869

Acroosteolysis of distal phalanges (feet)
tree view: Foot acroosteolysis
tree view: HP_0010189
has db xref: UMLS:C4025739
has exact synonym: Acroosteolysis of distal phalanges of feet
has OBO namespace: human_phenotype
id: HP:0001870
type: Class
subclass of: Foot acroosteolysis
subclass of: HP_0010189
notation: HP:0001870

Abnormality of blood and blood-forming tissues
tree view: Phenotypic abnormality
IAO_0000115: An abnormality of the hematopoietic system.
has alternative id: HP:0003135
has db xref: MSH:D006402
has db xref: SNOMEDCT_US:191124002
has db xref: SNOMEDCT_US:34093004
has db xref: UMLS:C0018939
has db xref: UMLS:C0850715
has db xref: UMLS:C4020864
has exact synonym: Abnormality of blood and blood-forming tissues
has exact synonym: Abnormality of the hematopoietic system
has exact synonym: Hematological abnormality
has OBO namespace: human_phenotype
has related synonym: Abnormality of the haematopoietic system
has related synonym: Hematologic disease
id: HP:0001871
type: Class
comment: The hematopoietic system comprises the organs that are involved in the production of blood, primarily the bone marrow, spleen, tonsils, and lymph nodes.
subclass of: Phenotypic abnormality
notation: HP:0001871

Abnormal thrombocyte morphology
tree view: Abnormality of blood and blood-forming tissues
IAO_0000115: An abnormality of platelets.
has alternative id: HP:0004807
has alternative id: HP:0005554
has db xref: MSH:D013915
has db xref: SNOMEDCT_US:127566005
has db xref: SNOMEDCT_US:32942005
has db xref: UMLS:C0040015
has db xref: UMLS:C0151854
has db xref: UMLS:C4020863
has exact synonym: Platelet abnormalities
has OBO namespace: human_phenotype
has related synonym: Blood platelet disease
has related synonym: Thrombasthenia
id: HP:0001872
type: Class
comment: Platelets, also known as thrombocytes, are non-nucleated disk-shaped cells mainly involved in blood coagulation.
subclass of: Abnormality of blood and blood-forming tissues
notation: HP:0001872

Thrombocytopenia
tree view: HP_0011873
IAO_0000115: A reduction in the number of circulating thrombocytes.
has alternative id: HP:0001906
has alternative id: HP:0004838
has alternative id: HP:0008175
has alternative id: HP:0008268
has alternative id: HP:0008302
has db xref: MSH:D013921
has db xref: SNOMEDCT_US:302215000
has db xref: SNOMEDCT_US:415116008
has db xref: UMLS:C0040034
has db xref: UMLS:C0392386
has exact synonym: Low platelet count
has OBO namespace: human_phenotype
id: HP:0001873
type: Class
comment: Thrombocytopenia can be divided into three major causes; 1) low production of platelets in the bone marrow; 2) intravascular breakdown of thrombocytes; and 3) increased turnover of platelets in spleen or liver (extravascular).
subclass of: HP_0011873
notation: HP:0001873

Abnormality of neutrophils
tree view: Abnormal granulocyte morphology
IAO_0000115: A neutrophil abnormality.
has db xref: SNOMEDCT_US:250274006
has db xref: UMLS:C0427515
has exact synonym: Abnormality of neutrophils
has exact synonym: Abnormality of polymorphonuclear neutrophils
has OBO namespace: human_phenotype
id: HP:0001874
type: Class
comment: Neutrophils are the most abundant leukocytes in blood and are considered to be the first line of defense during inflammation and infections. They are myeloid granulocytes and their names is derived from the fact that their cytoplasm contains granules that stain with acidic dye as well as granules that stain with basic dye. Their nuclei consist of three to five lobes connected by slender threads of chromatin. Mature neutrophils live for approximately one day.
subclass of: Abnormal granulocyte morphology
notation: HP:0001874

Neutropenia
tree view: HP_0011991
IAO_0000115: An abnormally low number of neutrophils in the peripheral blood.
has alternative id: HP:0005515
has alternative id: HP:0005533
has db xref: SNOMEDCT_US:165517008
has db xref: UMLS:C0853697
has exact synonym: Low blood neutrophil count
has exact synonym: Low neutrophil count
has exact synonym: Peripheral neutropenia
has OBO namespace: human_phenotype
id: HP:0001875
type: Class
comment: Mild neutropenia is defined as an absolute neutrophil count of less than 1500 cells per microliter of blood, moderate less than 1000 cells per microliter of blood and, and severe is less than 500 cells per microliter of blood.
subclass of: HP_0011991
notation: HP:0001875

Pancytopenia
tree view: HP_0012145
IAO_0000115: An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets).
has db xref: MSH:D010198
has db xref: SNOMEDCT_US:127034005
has db xref: UMLS:C0030312
has exact synonym: Low blood cell count
has OBO namespace: human_phenotype
id: HP:0001876
type: Class
subclass of: HP_0012145
notation: HP:0001876

Abnormal erythrocyte morphology
tree view: Abnormality of blood and blood-forming tissues
IAO_0000115: Any structural abnormality of erythrocytes (red-blood cells).
has alternative id: HP:0010973
has db xref: SNOMEDCT_US:12222001
has db xref: UMLS:C0391870
has db xref: UMLS:C4020862
has exact synonym: Abnormality of erythrocytes
has exact synonym: Abnormality of red blood cells
has OBO namespace: human_phenotype
has related synonym: Abnormality of erythroid lineage cell
id: HP:0001877
type: Class
subclass of: Abnormality of blood and blood-forming tissues
notation: HP:0001877

Hemolytic anemia
tree view: HP_0011895
IAO_0000115: A type of anemia caused by premature destruction of red blood cells (hemolysis).
has alternative id: HP:0001910
has alternative id: HP:0004827
has alternative id: HP:0004853
has alternative id: HP:0004868
has alternative id: HP:0005503
has db xref: MSH:D000743
has db xref: SNOMEDCT_US:61261009
has db xref: UMLS:C0002878
has exact synonym: Haemolytic anaemia
has exact synonym: Increased hemolysis
has OBO namespace: human_phenotype
id: HP:0001878
type: Class
comment: Normally, erythrocytes survive on average about 110-120 days. With hemolysis, the erythrocyte survival is shortened, and generally increased marrow activity results in a reticulocyte count.
subclass of: HP_0011895
notation: HP:0001878

Abnormal eosinophil morphology
tree view: Abnormal granulocyte morphology
IAO_0000115: An abnormal count or structure of eosinophils.
has db xref: UMLS:C4025738
has exact synonym: Abnormality of eosinophils
has OBO namespace: human_phenotype
id: HP:0001879
type: Class
comment: Eosinophils stain with acidophilic dyes including eosin red. They have a bilobed nucleus, are weakly phagocytic, and are involved in the immune defense against worms. Eosinophils are released into the peripheral blood in a phenotypically mature state, and are capable of undergoing activation and recruitment into tissues in response to appropriate stimuli, most notably cytokines interleukin-5 and the eotaxins. Eosinophils spend only a brief time in the peripheral blood (half-life of about 18 hours) before they migrate to the thymus or gastrointestinal tract, where they reside under homeostatic conditions. In response to inflammatory stimuli, eosinophils develop from committed bone marrow progenitors, after which they exit, migrate into the blood and subsequently accumulate in peripheral tissues where survival is prolonged.
subclass of: Abnormal granulocyte morphology
notation: HP:0001879

Eosinophilia
tree view: Leukocytosis
tree view: HP_0020064
IAO_0000115: Increased count of eosinophils in the blood.
has db xref: MSH:D004802
has db xref: UMLS:C0014457
has exact synonym: High blood eosinophil count
has OBO namespace: human_phenotype
id: HP:0001880
type: Class
subclass of: Leukocytosis
subclass of: HP_0020064
notation: HP:0001880

Abnormal leukocyte morphology
tree view: Abnormality of blood and blood-forming tissues
tree view: HP_0010987
IAO_0000115: An abnormality of leukocytes.
has db xref: SNOMEDCT_US:134199001
has db xref: SNOMEDCT_US:24827003
has db xref: UMLS:C0152009
has exact synonym: Abnormal leukocyte function
has exact synonym: Abnormality of leukocytes
has OBO namespace: human_phenotype
id: HP:0001881
type: Class
comment: Leukocytes are nucleated cells of the myeloid or lymphoid lineages, found in blood or other tissue.
subclass of: Abnormality of blood and blood-forming tissues
subclass of: HP_0010987
notation: HP:0001881

Leukopenia
tree view: HP_0011893
IAO_0000115: An abnormal decreased number of leukocytes in the blood.
has db xref: MSH:D007970
has db xref: SNOMEDCT_US:84828003
has db xref: UMLS:C0023530
has exact synonym: Decreased blood leukocyte number
has exact synonym: Low white blood cell count
has OBO namespace: human_phenotype
id: HP:0001882
type: Class
subclass of: HP_0011893
notation: HP:0001882

Talipes
tree view: HP_0005656
IAO_0000115: A deformity of foot and ankle that has different subtypes that are talipes equinovarus, talipes equinovalgus, talipes calcaneovarus and talipes calcaneovalgus.
has db xref: MSH:D000070558
has db xref: SNOMEDCT_US:398309008
has db xref: UMLS:C1301937
has db xref: UMLS:C3552713
has OBO namespace: human_phenotype
has related synonym: Talipes foot deformities
id: HP:0001883
type: Class
comment: Talipes means (a deformity of) foot and ankle. There are four types of talipes. 1) Talipes equinovarus - the foot is pointing inwards and down (the most common form) 2) Talipes equinovalgus - where the foot points outwards and down 3) Talipes calcaneovarus - where the foot points inwards and up 4) Talipes calcaneovalgus - where the foot points inwards and down.
subclass of: HP_0005656
notation: HP:0001883

Talipes calcaneovalgus
tree view: Talipes
IAO_0000115: Talipes calcaneovalgus is a flexible foot deformity (as opposed to a rigid congenital vertical talus foot deformity) that can either present as a positional or structural foot deformity depending on severity and/or causality. The axis of calcaneovalgus deformity is in the tibiotalar joint, where the foot is positioned in extreme hyperextension. On inspection, the foot has an "up and out" appearance, with the dorsal forefoot practically touching the anterior aspect of the ankle and lower leg.
has db xref: MSH:D005413
has db xref: SNOMEDCT_US:205083002
has db xref: SNOMEDCT_US:31668003
has db xref: UMLS:C0152237
has exact synonym: Pes calcaneovarus
has OBO namespace: human_phenotype
id: HP:0001884
type: Class
subclass of: Talipes
notation: HP:0001884

Short 2nd toe
tree view: Short toe
IAO_0000115: Underdevelopment (hypoplasia) of the second toe.
has db xref: UMLS:C4021769
has exact synonym: Short second toe
has OBO namespace: human_phenotype
id: HP:0001885
type: Class
subclass of: Short toe
notation: HP:0001885

Foot osteomyelitis
tree view: Abnormality of the foot
tree view: Osteomyelitis
IAO_0000115: An infection of bone of the foot.
has db xref: UMLS:C4025737
has exact synonym: Foot bone infection
has OBO namespace: human_phenotype
id: HP:0001886
type: Class
subclass of: Abnormality of the foot
subclass of: Osteomyelitis
notation: HP:0001886

HP_0001887
IAO_0000231: IAO_0000227
IAO_0100001: Abnormal lymphocyte morphology
type: Class
deprecated: true
notation: HP:0001887

Lymphopenia
tree view: Leukopenia
tree view: HP_0040088
IAO_0000115: A reduced number of lymphocytes in the blood.
has db xref: MSH:D008231
has db xref: SNOMEDCT_US:48813009
has db xref: UMLS:C0024312
has exact synonym: Absolute lymphocyte count decrease
has exact synonym: Decreased blood lymphocyte number
has exact synonym: Low lymphocyte number
has exact synonym: Lymphocytopenia
has OBO namespace: human_phenotype
id: HP:0001888
type: Class
subclass of: Leukopenia
subclass of: HP_0040088
notation: HP:0001888

Megaloblastic anemia
tree view: Macrocytic anemia
IAO_0000115: Anemia characterized by the presence of erythroblasts that are larger than normal (megaloblasts).
has alternative id: HP:0004858
has db xref: MSH:D000749
has db xref: SNOMEDCT_US:53165003
has db xref: UMLS:C0002888
has OBO namespace: human_phenotype
id: HP:0001889
type: Class
comment: Megaloblastic anemia can result from folic acid deficiency or vitamin B12 deficiency. Folate deficiency leads to an impairment of DNA synthesis such that the cell cycle cannot progress from the G2 growth stage to the mitosis stage, in turn leading to continuing cell growth without division, which presents as macrocytosis.
subclass of: Macrocytic anemia
notation: HP:0001889

Autoimmune hemolytic anemia
tree view: Hemolytic anemia
tree view: Autoimmunity
IAO_0000115: An autoimmune form of hemolytic anemia.
has db xref: MSH:D000744
has db xref: SNOMEDCT_US:413603009
has db xref: UMLS:C0002880
has exact synonym: Autoimmune haemolytic anaemia
has exact synonym: Hemolytic anemia, autoimmune
has OBO namespace: human_phenotype
id: HP:0001890
type: Class
subclass of: Hemolytic anemia
subclass of: Autoimmunity
notation: HP:0001890

Iron deficiency anemia
tree view: Hypochromic anemia
has db xref: MSH:D018798
has db xref: SNOMEDCT_US:87522002
has db xref: UMLS:C0162316
has exact synonym: Ferropenic
has exact synonym: Iron-deficiency anemia
has OBO namespace: human_phenotype
id: HP:0001891
type: Class
subclass of: Hypochromic anemia
notation: HP:0001891

Abnormal bleeding
tree view: Abnormality of blood and blood-forming tissues
IAO_0000115: An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects.
has alternative id: HP:0004830
has alternative id: HP:0004834
has alternative id: HP:0004849
has alternative id: HP:0004862
has alternative id: HP:0004865
has alternative id: HP:0008183
has db xref: SNOMEDCT_US:248250000
has db xref: SNOMEDCT_US:64779008
has db xref: UMLS:C1458140
has exact synonym: Bleeding diathesis
has exact synonym: Bleeding tendency
has exact synonym: Hemorrhagic diathesis
has OBO namespace: human_phenotype
id: HP:0001892
type: Class
comment: This term is kept for historical reasons. If possible, a more exact description of the phenotype (i.e., whether there is a vascular, platelet and coagulation defect) should be attempted.
subclass of: Abnormality of blood and blood-forming tissues
notation: HP:0001892

HP_0001893
IAO_0000231: IAO_0000227
IAO_0100001: Polycythemia
type: Class
deprecated: true
notation: HP:0001893

Thrombocytosis
tree view: HP_0011873
IAO_0000115: Increased numbers of platelets in the peripheral blood.
has db xref: MSH:D013922
has db xref: SNOMEDCT_US:415115007
has db xref: SNOMEDCT_US:6631009
has db xref: UMLS:C0836924
has db xref: UMLS:C0857460
has exact synonym: Increased number of platelets in blood
has exact synonym: Increased platelet count
has OBO namespace: human_phenotype
has related synonym: Thrombocythaemia
has related synonym: Thrombocythemia
id: HP:0001894
type: Class
comment: Thrombocythemia and thrombocytosis are conditions with a higher than normal number of platelets. The term "thrombocythemia" is preferred when the cause of a high platelet count isn't known. The condition sometimes is called primary or essential thrombocythemia.
subclass of: HP_0011873
notation: HP:0001894

Normochromic anemia
tree view: HP_0010972
has db xref: UMLS:C0235983
has OBO namespace: human_phenotype
id: HP:0001895
type: Class
subclass of: HP_0010972
notation: HP:0001895

Reticulocytopenia
tree view: Abnormality of reticulocytes
IAO_0000115: A reduced number of reticulocytes in the peripheral blood.
has db xref: SNOMEDCT_US:124961001
has db xref: UMLS:C0858867
has OBO namespace: human_phenotype
id: HP:0001896
type: Class
subclass of: Abnormality of reticulocytes
notation: HP:0001896

Normocytic anemia
tree view: HP_0010972
IAO_0000115: A kind of anemia in which the volume of the red blood cells is normal.
has db xref: SNOMEDCT_US:300980002
has db xref: UMLS:C0085577
has OBO namespace: human_phenotype
id: HP:0001897
type: Class
comment: In normocytic anemia, the mean corpuscular volume (MCV) is within normal limits (80-100 fl in adults).
subclass of: HP_0010972
notation: HP:0001897

Increased red blood cell mass
tree view: Polycythemia
IAO_0000115: The presence of an increased mass of red blood cells in the circulation.
has db xref: UMLS:C1853288
has exact synonym: Increased RBC mass
has OBO namespace: human_phenotype
id: HP:0001898
type: Class
subclass of: Polycythemia
notation: HP:0001898

Increased hematocrit
tree view: HP_0031850
IAO_0000115: An elevation above the normal ratio of the volume of red blood cells to the total volume of blood.
has db xref: UMLS:C0239935
has exact synonym: Increased Hct
has OBO namespace: human_phenotype
id: HP:0001899
type: Class
subclass of: HP_0031850
notation: HP:0001899

Increased hemoglobin
tree view: Polycythemia
has db xref: SNOMEDCT_US:131141003
has db xref: UMLS:C0549448
has exact synonym: Increased Hb
has OBO namespace: human_phenotype
id: HP:0001900
type: Class
subclass of: Polycythemia
notation: HP:0001900

Polycythemia
tree view: Abnormal erythrocyte morphology
IAO_0000115: Polycythemia is diagnosed if the red blood cell count, the hemoglobin level, and the red blood cell volume all exceed the upper limits of normal.
has alternative id: HP:0001893
has db xref: MSH:D011086
has db xref: SNOMEDCT_US:109992005
has db xref: SNOMEDCT_US:127062003
has db xref: UMLS:C0032461
has db xref: UMLS:C1527405
has exact synonym: Abnormally shaped erythrocytes
has exact synonym: Erythrocytosis
has exact synonym: Increased red blood cells
has exact synonym: Polyglobulia
has OBO namespace: human_phenotype
id: HP:0001901
type: Class
subclass of: Abnormal erythrocyte morphology
notation: HP:0001901

Giant platelets
tree view: HP_0011877
IAO_0000115: Giant platelets are larger than 7 micrometers and usually 10 to 20 micrometers. The term giant platelet is used when the platelet is larger than the size of the average red cell in the field. (Description adapted from College of American Pathologists, Hematology Manual, 1998).
has db xref: SNOMEDCT_US:44687006
has db xref: UMLS:C0333864
has OBO namespace: human_phenotype
id: HP:0001902
type: Class
comment: This phenotype may be present in myelodysplastic or myeloproliferative diseases and autoimmune thrombocytopenia (associated with severe leukemoid reactions). It may also be present in inherited diseases such as Bernard-Soulier syndrome or May-Hegglin anomaly.
subclass of: HP_0011877
notation: HP:0001902

Anemia
tree view: Abnormal erythrocyte morphology
IAO_0000115: A reduction in erythrocytes volume or hemoglobin concentration.
has alternative id: HP:0001926
has alternative id: HP:0003136
has alternative id: HP:0005509
has db xref: MSH:D000740
has db xref: SNOMEDCT_US:165397008
has db xref: SNOMEDCT_US:271737000
has db xref: UMLS:C0002871
has db xref: UMLS:C0162119
has exact synonym: Anaemia
has exact synonym: Low number of red blood cells or hemoglobin
has OBO namespace: human_phenotype
has related synonym: Decreased hemoglobin
id: HP:0001903
type: Class
comment: Anemia is not a specific entity but can result from many underlying pathologic processes. The three main causes of anemia are blood loss, decreased or faulty red blood cell production, and increased destruction of red blood cells. Various classifications are in clinical use including a classification according to the mean corpuscular volume (MCV) of the erythrocytes: microcytic, macrocytic, or normocytic. Anemias can also be classified according to variations in cell size and shape, as reflected by the red-cell distribution width (RDW). Additionally, anemias can be classified into those of inadequate production and hemolytic anemias.
subclass of: Abnormal erythrocyte morphology
notation: HP:0001903

Neutropenia in presence of anti-neutropil antibodies
tree view: Neutropenia
tree view: Autoimmunity
IAO_0000115: A type of neutropenia that is observed in the presence of granulocyte-specific antibodies.
has db xref: SNOMEDCT_US:234425008
has db xref: UMLS:C0340971
has exact synonym: Autoimmune neutropenia
has OBO namespace: human_phenotype
id: HP:0001904
type: Class
comment: The antibodies are directed against the cell surface membrane and have no relationship with antineutrophil cytoplasmic antibodies (ANCAs) in the vast majority of cases. It is important to highlight that there are frequent difficulties in the detection of autoantibodies causing AIN due to the labile nature of granulocytes (not storable without activation and consequent autolysis). This type of neutropenia is commonly seen with autoimmune neutropenia of infancy (AIN), also called primary autoimmune neutropenia, is a disease in which antibodies recognize membrane antigens of neutrophils, mostly located on immunoglobulin G (IgG) Fc receptor type 3b (Fc-gamma-IIIb receptor), causing their peripheral destruction.
subclass of: Neutropenia
subclass of: Autoimmunity
notation: HP:0001904

Congenital thrombocytopenia
tree view: Thrombocytopenia
IAO_0000115: Thrombocytopenia with congenital onset.
has alternative id: HP:0004869
has db xref: UMLS:C0272278
has exact synonym: thrombocytopenia, congenital
has OBO namespace: human_phenotype
id: HP:0001905
type: Class
subclass of: Thrombocytopenia
notation: HP:0001905

HP_0001906
IAO_0000231: IAO_0000227
IAO_0100001: Thrombocytopenia
type: Class
deprecated: true
notation: HP:0001906

Thromboembolism
tree view: Abnormal thrombosis
IAO_0000115: The formation of a blood clot inside a blood vessel that subsequently travels through the blood stream from the site where it formed to another location in the body, generally leading to vascular occlusion at the distant site.
has db xref: MSH:D013923
has db xref: MSH:D016769
has db xref: SNOMEDCT_US:13713005
has db xref: SNOMEDCT_US:371039008
has db xref: UMLS:C0040038
has db xref: UMLS:C0085307
has exact synonym: Blood clot in blood vessel
has exact synonym: Thromboembolic disease
has exact synonym: Thromboembolic events
has OBO namespace: human_phenotype
has related synonym: Embolism and thrombosis
id: HP:0001907
type: Class
subclass of: Abnormal thrombosis
notation: HP:0001907

Hypoplastic anemia
tree view: HP_0010972
IAO_0000115: Anemia with varying degrees of erythrocytic hypoplasia without leukopenia or thrombocytopenia.
has db xref: MSH:D000741
has db xref: SNOMEDCT_US:167923006
has db xref: SNOMEDCT_US:41614006
has db xref: UMLS:C0178416
has OBO namespace: human_phenotype
id: HP:0001908
type: Class
subclass of: HP_0010972
notation: HP:0001908

Leukemia
tree view: Abnormal leukocyte morphology
tree view: Hematological neoplasm
IAO_0000115: A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes.
has alternative id: HP:0005519
has alternative id: HP:0006726
has broad synonym: Blood cancer
has db xref: MSH:D007938
has db xref: MSH:D019337
has db xref: SNOMEDCT_US:129154003
has db xref: SNOMEDCT_US:269475001
has db xref: SNOMEDCT_US:87163000
has db xref: SNOMEDCT_US:93143009
has db xref: UMLS:C0023418
has db xref: UMLS:C0376545
has OBO namespace: human_phenotype
id: HP:0001909
type: Class
subclass of: Abnormal leukocyte morphology
subclass of: Hematological neoplasm
notation: HP:0001909

HP_0001910
IAO_0000231: IAO_0000227
IAO_0100001: Hemolytic anemia
type: Class
deprecated: true
notation: HP:0001910

Abnormal granulocyte morphology
tree view: HP_0010974
IAO_0000115: Any structural abnormality or abnormal count of granulocytes.
has alternative id: HP:0005438
has db xref: SNOMEDCT_US:250274006
has db xref: UMLS:C0427515
has exact synonym: Abnormality of granulocytes
has exact synonym: Abnormality of neutrophil
has OBO namespace: human_phenotype
id: HP:0001911
type: Class
subclass of: HP_0010974
notation: HP:0001911

Abnormal basophil morphology
tree view: Abnormal granulocyte morphology
IAO_0000115: Any structural abnormality or abnormal count of basophils.
has db xref: UMLS:C4025736
has exact synonym: Abnormality of basophils
has OBO namespace: human_phenotype
id: HP:0001912
type: Class
comment: Basophils are myeoloid granulocytes and part of the innate immune system. They represent the least abundant granulocyte population in mammals. They have a complex, almost C-shaped nucleus. Their granules stain blue with basic dye. They are not phagacytic. They are involved in the immune response to worms. Their cell surface has Fc receptors which may be attached to class E antibodies.
subclass of: Abnormal granulocyte morphology
notation: HP:0001912

Granulocytopenia
tree view: HP_0032309
IAO_0000115: An abnormally reduced number of granulocytes in the blood.
has db xref: MSH:D000380
has db xref: SNOMEDCT_US:17182001
has db xref: SNOMEDCT_US:417672002
has db xref: UMLS:C0001824
has OBO namespace: human_phenotype
id: HP:0001913
type: Class
subclass of: HP_0032309
notation: HP:0001913

HP_0001914
IAO_0000231: IAO_0000227
IAO_0100001: Acute myeloid leukemia
type: Class
deprecated: true
notation: HP:0001914

Aplastic anemia
tree view: Pancytopenia
IAO_0000115: Aplastic anemia is defined as pancytopenia with a hypocellular marrow.
has db xref: MSH:D000741
has db xref: SNOMEDCT_US:304132006
has db xref: SNOMEDCT_US:306058006
has db xref: UMLS:C0002874
has OBO namespace: human_phenotype
id: HP:0001915
type: Class
comment: Aplastic anemia is characterized by reduced numbers of all blood cell types (red blood cells, white blood cells, and platelets) owing to reduced production.
subclass of: Pancytopenia
notation: HP:0001915

HP_0001916
IAO_0000231: IAO_0000227
IAO_0100001: Sensorineural hearing impairment
type: Class
deprecated: true
notation: HP:0001916

Renal amyloidosis
tree view: HP_0011034
tree view: HP_0012210
IAO_0000115: A form of amyloidosis that affects the kidney.
has db xref: SNOMEDCT_US:48713002
has db xref: UMLS:C0268382
has OBO namespace: human_phenotype
id: HP:0001917
type: Class
subclass of: HP_0011034
subclass of: HP_0012210
notation: HP:0001917

HP_0001918
IAO_0000231: IAO_0000227
IAO_0100001: HP_0012622
type: Class
deprecated: true
notation: HP:0001918

Acute kidney injury
tree view: Renal insufficiency
IAO_0000115: Sudden loss of renal function, as manifested by decreased urine production, and a rise in serum creatinine or blood urea nitrogen concentration (azotemia).
has db xref: MSH:D058186
has db xref: SNOMEDCT_US:14350001000004108
has db xref: SNOMEDCT_US:14669001
has db xref: UMLS:C0022660
has db xref: UMLS:C2609414
has exact synonym: Acute kidney failure
has exact synonym: Acute renal failure
has OBO namespace: human_phenotype
id: HP:0001919
type: Class
comment: Acute renal failure is usually classified into prerenal (response to severe volume depletion), intrinsic (response to acute cytotoxic, ischemic, or inflammatory insults) and postrenal (response to obstruction of the passage of urine) etiologies.
subclass of: Renal insufficiency
notation: HP:0001919

Renal artery stenosis
tree view: HP_0008776
tree view: HP_0100545
IAO_0000115: The presence of stenosis of the renal artery.
has db xref: Fyler:2634
has db xref: MSH:D012078
has db xref: SNOMEDCT_US:282664001
has db xref: SNOMEDCT_US:302233006
has db xref: UMLS:C0035067
has exact synonym: Narrowing of kidney artery
has OBO namespace: human_phenotype
id: HP:0001920
type: Class
subclass of: HP_0008776
subclass of: HP_0100545
notation: HP:0001920

HP_0001921
IAO_0000231: IAO_0000227
IAO_0100001: Adrenogenital syndrome
type: Class
deprecated: true
notation: HP:0001921

Vacuolated lymphocytes
tree view: Abnormal lymphocyte morphology
IAO_0000115: The presence of clear, sharply defined vacuoles in the lymphocyte cytoplasm.
has alternative id: HP:0008147
has alternative id: HP:0008329
has db xref: UMLS:C1836855
has exact synonym: Enlarged lysosomal vacuoles in lymphocytes
has exact synonym: Vacuolated blood lymphocytes
has OBO namespace: human_phenotype
id: HP:0001922
type: Class
comment: Vacuolated lymphocytes occur most commonly as the peripheral blood manifestation of inherited metabolic disorders, including Niemann-Pick disease Type A, infantile sialic acid storage disorder, Wolman's disease, Mucolipidoses II and III, Salla disease, mannosidosis, Batten disease, GM1 gangliosidosis, neuraminidase deficiency, galactosidosis, fucosidosis, Pompe's disease, aspartylglycosaminuria and rarely, multiple sulfatase deficiency. The metabolic product, which causes vacuolation, depends on the specific enzyme deficiency.
subclass of: Abnormal lymphocyte morphology
notation: HP:0001922

Reticulocytosis
tree view: Abnormality of reticulocytes
IAO_0000115: An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation.
has db xref: MSH:D045262
has db xref: SNOMEDCT_US:46049004
has db xref: UMLS:C0206160
has exact synonym: Increased immature red blood cells
has exact synonym: Increased number of immature red blood cells
has exact synonym: Increased reticulocyte count
has exact synonym: Increased reticulocytes
has OBO namespace: human_phenotype
id: HP:0001923
type: Class
subclass of: Abnormality of reticulocytes
notation: HP:0001923

Sideroblastic anemia
tree view: HP_0010972
IAO_0000115: Sideroblastic anemia results from a defect in the incorporation of iron into the heme molecule. A sideroblast is an erythroblast that has stainable deposits of iron in cytoplasm (this can be demonstrated by Prussian blue staining).
has alternative id: HP:0100791
has db xref: MSH:D000756
has db xref: SNOMEDCT_US:41841004
has db xref: UMLS:C0002896
has exact synonym: Hypersideremic anemia
has OBO namespace: human_phenotype
id: HP:0001924
type: Class
comment: Sideroblastic anemia may be either congenital or acquired. In sideroblastic anemia, the hematocrit tends to be around 20 to 30 percent, and the mean corpuscular volume is normal or low.
subclass of: HP_0010972
notation: HP:0001924

HP_0001925
IAO_0000231: IAO_0000227
IAO_0100001: Abnormality of the coagulation cascade
type: Class
deprecated: true
notation: HP:0001925

HP_0001926
IAO_0000231: IAO_0000227
IAO_0100001: Anemia
type: Class
deprecated: true
notation: HP:0001926

Acanthocytosis
tree view: Poikilocytosis
IAO_0000115: Acanthocytosis is a type of poikilocytosis characterized by the presence of spikes on the cell surface. The cells have an irregular shape resembling many-pointed stars.
has alternative id: HP:0005552
has db xref: SNOMEDCT_US:250249008
has db xref: UMLS:C0687751
has exact synonym: Acanthocytes
has exact synonym: Red cell acanthocytosis
has OBO namespace: human_phenotype
id: HP:0001927
in subset: hposlim core
type: Class
subclass of: Poikilocytosis
notation: HP:0001927

Abnormality of coagulation
tree view: Abnormality of blood and blood-forming tissues
IAO_0000115: An abnormality of the process of blood coagulation. That is, altered ability or inability of the blood to clot.
has db xref: MSH:D001778
has db xref: MSH:D006474
has db xref: SNOMEDCT_US:362970003
has db xref: SNOMEDCT_US:64779008
has db xref: UMLS:C0005779
has db xref: UMLS:C0019087
has db xref: UMLS:C1846821
has exact synonym: Abnormal blood clotting
has exact synonym: Abnormal blood coagulation studies
has exact synonym: Coagulation abnormalities
has exact synonym: Coagulation abnormality
has exact synonym: Haemorrhagic disorders
has OBO namespace: human_phenotype
has related synonym: Blood coagulation disorder
id: HP:0001928
type: Class
subclass of: Abnormality of blood and blood-forming tissues
notation: HP:0001928

Reduced factor XI activity
tree view: HP_0010989
IAO_0000115: Decreased activity of coagulation factor XI. Factor XI, also known as plasma thromboplastin antecedent, is a serine proteinase that activates factor IX.
has db xref: MSH:D005173
has db xref: SNOMEDCT_US:49762007
has db xref: UMLS:C0015523
has exact synonym: Low factor XI activity
has OBO namespace: human_phenotype
has related synonym: Factor XI deficiency
id: HP:0001929
type: Class
subclass of: HP_0010989
notation: HP:0001929

Nonspherocytic hemolytic anemia
tree view: Hemolytic anemia
has db xref: UMLS:C4025735
has OBO namespace: human_phenotype
id: HP:0001930
type: Class
subclass of: Hemolytic anemia
notation: HP:0001930

Hypochromic anemia
tree view: HP_0010972
IAO_0000115: A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes.
has db xref: MSH:D000747
has db xref: SNOMEDCT_US:44452003
has db xref: UMLS:C0002884
has exact synonym: Hypochromic anaemia
has OBO namespace: human_phenotype
id: HP:0001931
type: Class
comment: The low concentration of hemoglobin in the erythrocytes causes them to be abnormally pale, i.e., to have less color (be hypochromic).
subclass of: HP_0010972
notation: HP:0001931

HP_0001932
IAO_0000231: IAO_0000227
IAO_0100001: HP_0008264
type: Class
deprecated: true
notation: HP:0001932

Subcutaneous hemorrhage
tree view: Abnormal bleeding
tree view: HP_0011276
IAO_0000115: This term refers to an abnormally increased susceptibility to bruising (purpura, petechiae, or ecchymoses).
created by: peter
creation date: 2008-02-28T07:14:00Z
has db xref: UMLS:C0854107
has exact synonym: Bleeding below the skin
has OBO namespace: human_phenotype
id: HP:0001933
type: Class
comment: Purpura measure 0.3-1 cm (3-10 mm), whereas petechiae measure less than 3 mm, and ecchymoses greater than 1 cm.
subclass of: Abnormal bleeding
subclass of: HP_0011276
notation: HP:0001933

Persistent bleeding after trauma
tree view: Abnormal bleeding
has alternative id: HP:0007463
has db xref: UMLS:C1844374
has exact synonym: Excessive bleeding after minor trauma
has exact synonym: Frequent bleeding with trauma
has exact synonym: Prolonged bleeding after minor trauma
has OBO namespace: human_phenotype
id: HP:0001934
type: Class
subclass of: Abnormal bleeding
notation: HP:0001934

Microcytic anemia
tree view: HP_0010972
IAO_0000115: A kind of anemia in which the volume of the red blood cells is reduced.
has db xref: MSH:C562385
has db xref: SNOMEDCT_US:234349007
has db xref: UMLS:C0085576
has OBO namespace: human_phenotype
id: HP:0001935
type: Class
comment: In normocytic anemia, the mean corpuscular volume (MCV) is below normal limits (>80 fl in adults).
subclass of: HP_0010972
notation: HP:0001935

HP_0001936
IAO_0000231: IAO_0000227
IAO_0100001: Autoimmune thrombocytopenia
type: Class
deprecated: true
notation: HP:0001936

Microangiopathic hemolytic anemia
tree view: Hemolytic anemia
has db xref: MSH:D000743
has db xref: SNOMEDCT_US:51071000
has db xref: UMLS:C0221021
has OBO namespace: human_phenotype
id: HP:0001937
type: Class
subclass of: Hemolytic anemia
notation: HP:0001937

HP_0001938
IAO_0000231: IAO_0000227
IAO_0100001: HP_0005537
type: Class
deprecated: true
notation: HP:0001938

Abnormality of metabolism/homeostasis
tree view: Phenotypic abnormality
has alternative id: HP:0002146
has alternative id: HP:0004355
has alternative id: HP:0004367
has db xref: UMLS:C4021768
has exact synonym: Laboratory abnormality
has exact synonym: Metabolism abnormality
has OBO namespace: human_phenotype
id: HP:0001939
type: Class
subclass of: Phenotypic abnormality
notation: HP:0001939

HP_0001940
IAO_0000231: IAO_0000227
IAO_0100001: Acidosis
type: Class
deprecated: true
notation: HP:0001940

Acidosis
tree view: Abnormality of acid-base homeostasis
IAO_0000115: Abnormal acid accumulation or depletion of base.
has alternative id: HP:0001940
has db xref: MSH:D000138
has db xref: SNOMEDCT_US:51387008
has db xref: UMLS:C0001122
has OBO namespace: human_phenotype
id: HP:0001941
type: Class
comment: When describing acid-base abnormalities, acidosis and alkalosis refer to physiological processes that lower or raise the pH, respectively, while acidemia and alkalemia simply describe the state of an abnormal blood pH. This distinction is important: a patient with acidemia could have both a respiratory and metabolic acidosis as well as a concurrent metabolic alkalosis.
subclass of: Abnormality of acid-base homeostasis
notation: HP:0001941

Metabolic acidosis
tree view: Acidosis
IAO_0000115: Acid accumulation or depletion of base in the body due to buildup of metabolic acids.
has alternative id: HP:0004895
has alternative id: HP:0004907
has db xref: MSH:D000138
has db xref: SNOMEDCT_US:59455009
has db xref: UMLS:C0220981
has OBO namespace: human_phenotype
id: HP:0001942
type: Class
subclass of: Acidosis
notation: HP:0001942

Hypoglycemia
tree view: HP_0011015
IAO_0000115: A decreased concentration of glucose in the blood.
has alternative id: HP:0003356
has db xref: MSH:D007003
has db xref: SNOMEDCT_US:237630007
has db xref: SNOMEDCT_US:271327008
has db xref: SNOMEDCT_US:302866003
has db xref: UMLS:C0020615
has exact synonym: Hypoglycaemia
has exact synonym: Low blood sugar
has OBO namespace: human_phenotype
id: HP:0001943
type: Class
subclass of: HP_0011015
notation: HP:0001943

Dehydration
tree view: HP_0011032
has db xref: MSH:D003681
has db xref: SNOMEDCT_US:34095006
has db xref: UMLS:C0011175
has exact synonym: Dehydration
has OBO namespace: human_phenotype
id: HP:0001944
type: Class
subclass of: HP_0011032
notation: HP:0001944

Fever
tree view: Abnormality of temperature regulation
IAO_0000115: Elevated body temperature due to failed thermoregulation.
has db xref: MSH:D005334
has db xref: SNOMEDCT_US:386661006
has db xref: SNOMEDCT_US:50177009
has db xref: UMLS:C0015967
has exact synonym: Fever
has exact synonym: Hyperthermia
has exact synonym: Pyrexia
has OBO namespace: human_phenotype
id: HP:0001945
type: Class
comment: Hyperthermia is defined as a temperature greater than 37.5-38.3 degree celsius (100-101 degree Fahrenheit).
subclass of: Abnormality of temperature regulation
notation: HP:0001945

Ketosis
tree view: Abnormality of metabolism/homeostasis
IAO_0000115: Presence of elevated levels of ketone bodies in the body.
has alternative id: HP:0003543
has db xref: MSH:D007662
has db xref: SNOMEDCT_US:213281004
has db xref: SNOMEDCT_US:2538008
has db xref: UMLS:C0022638
has db xref: UMLS:C0235430
has exact synonym: High levels of ketone bodies
has exact synonym: Hyperketosis
has OBO namespace: human_phenotype
id: HP:0001946
type: Class
comment: Ketone bodies are formed from acetyl-CoA in the liver by ketogenesis when the liver glycogen stores are depleted. Ketone bodies are acidic, and ketoacidosis ensues if the compensatory mechanisms are overloaded.
subclass of: Abnormality of metabolism/homeostasis
notation: HP:0001946

Renal tubular acidosis
tree view: Renal tubular dysfunction
tree view: Acidosis
IAO_0000115: Acidosis owing to malfunction of the kidney tubules with accumulation of metabolic acids and hyperchloremia, potentially leading to complications including hypokalemia, hypercalcinuria, nephrolithiasis and nephrocalcinosis.
has db xref: MSH:D000141
has db xref: SNOMEDCT_US:1776003
has db xref: UMLS:C0001126
has exact synonym: Accumulation of acid in body due to kidney problem
has OBO namespace: human_phenotype
id: HP:0001947
type: Class
subclass of: Renal tubular dysfunction
subclass of: Acidosis
notation: HP:0001947

Alkalosis
tree view: Abnormality of acid-base homeostasis
IAO_0000115: Depletion of acid or accumulation base in the body fluids.
has db xref: MSH:D000471
has db xref: SNOMEDCT_US:21420006
has db xref: UMLS:C0002063
has OBO namespace: human_phenotype
id: HP:0001948
type: Class
comment: When describing acid-base abnormalities, acidosis and alkalosis refer to physiological processes that lower or raise the pH, respectively, while acidemia and alkalemia simply describe the state of an abnormal blood pH. This distinction is important: a patient with acidemia could have both a respiratory and metabolic acidosis as well as a concurrent metabolic alkalosis.
subclass of: Abnormality of acid-base homeostasis
notation: HP:0001948

Hypokalemic alkalosis
tree view: Alkalosis
has db xref: SNOMEDCT_US:22774003
has db xref: UMLS:C0085570
has OBO namespace: human_phenotype
id: HP:0001949
type: Class
subclass of: Alkalosis
notation: HP:0001949

Respiratory alkalosis
tree view: Alkalosis
IAO_0000115: Alkalosis due to excess loss of carbon dioxide from the body.
has db xref: MSH:D000472
has db xref: SNOMEDCT_US:111378004
has db xref: UMLS:C0002064
has OBO namespace: human_phenotype
id: HP:0001950
type: Class
subclass of: Alkalosis
notation: HP:0001950

Episodic ammonia intoxication
tree view: Abnormal circulating nitrogen compound concentration
has db xref: UMLS:C1839541
has OBO namespace: human_phenotype
id: HP:0001951
type: Class
subclass of: Abnormal circulating nitrogen compound concentration
notation: HP:0001951

Glucose intolerance
tree view: HP_0011014
IAO_0000115: Glucose intolerance (GI) can be defined as dysglycemia that comprises both prediabetes and diabetes. It includes the conditions of impaired fasting glucose (IFG) and impaired glucose tolerance (IGT) and diabetes mellitus (DM).
has alternative id: HP:0000833
has db xref: UMLS:C0235401
has exact synonym: Abnormal glucose tolerance
has exact synonym: Glucose intolerance
has exact synonym: HP:0000833
has OBO namespace: human_phenotype
id: HP:0001952
type: Class
subclass of: HP_0011014
notation: HP:0001952

Diabetic ketoacidosis
tree view: Diabetes mellitus
tree view: Ketoacidosis
IAO_0000115: A type of diabetic metabolic abnormality with an accumulation of ketone bodies.
has alternative id: HP:0008253
has db xref: MSH:D016883
has db xref: SNOMEDCT_US:420422005
has db xref: UMLS:C0011880
has exact synonym: Diabetic ketosis
has OBO namespace: human_phenotype
id: HP:0001953
type: Class
subclass of: Diabetes mellitus
subclass of: Ketoacidosis
notation: HP:0001953

Recurrent fever
tree view: Fever
IAO_0000115: Periodic (episodic or recurrent) bouts of fever.
has alternative id: HP:0004903
has alternative id: HP:0005962
has alternative id: HP:0005966
has alternative id: HP:0005980
has db xref: SNOMEDCT_US:77957000
has db xref: UMLS:C0277799
has exact synonym: Episodic fever
has exact synonym: Hyperthermia, episodic
has exact synonym: Increased body temperature, episodic
has exact synonym: Intermittent fever
has OBO namespace: human_phenotype
id: HP:0001954
type: Class
subclass of: Fever
notation: HP:0001954

Unexplained fevers
tree view: Fever
IAO_0000115: Episodes of fever for which no infectious cause can be identified.
has db xref: UMLS:C1844662
has exact synonym: Unexplained fevers
has OBO namespace: human_phenotype
id: HP:0001955
type: Class
subclass of: Fever
notation: HP:0001955

Truncal obesity
tree view: Obesity
IAO_0000115: Obesity located preferentially in the trunk of the body as opposed to the extremities.
has alternative id: HP:0008885
has db xref: MSH:D056128
has db xref: SNOMEDCT_US:248311001
has db xref: UMLS:C0311277
has exact synonym: Centripetal obesity
has exact synonym: Truncal obesity
has OBO namespace: human_phenotype
id: HP:0001956
type: Class
subclass of: Obesity
notation: HP:0001956

HP_0001957
IAO_0000231: IAO_0000227
IAO_0100001: HP_0008368
type: Class
deprecated: true
notation: HP:0001957

Nonketotic hypoglycemia
tree view: Hypoglycemia
has db xref: UMLS:C1865292
has OBO namespace: human_phenotype
id: HP:0001958
type: Class
subclass of: Hypoglycemia
notation: HP:0001958

Polydipsia
tree view: HP_0030082
IAO_0000115: Excessive thirst manifested by excessive fluid intake.
has db xref: MSH:D059606
has db xref: SNOMEDCT_US:17173007
has db xref: SNOMEDCT_US:267026004
has db xref: UMLS:C0085602
has exact synonym: Extreme thirst
has OBO namespace: human_phenotype
id: HP:0001959
type: Class
subclass of: HP_0030082
notation: HP:0001959

Hypokalemic metabolic alkalosis
tree view: Hypokalemic alkalosis
tree view: HP_0200114
has db xref: UMLS:C0740898
has OBO namespace: human_phenotype
id: HP:0001960
type: Class
subclass of: Hypokalemic alkalosis
subclass of: HP_0200114
notation: HP:0001960

Hypoplastic heart
tree view: Abnormal heart morphology
has db xref: UMLS:C3151525
has exact synonym: Small heart
has exact synonym: Underdeveloped heart
has OBO namespace: human_phenotype
id: HP:0001961
type: Class
subclass of: Abnormal heart morphology
notation: HP:0001961

Palpitations
tree view: HP_0011675
IAO_0000115: A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia.
has alternative id: HP:0001676
has db xref: SNOMEDCT_US:80313002
has db xref: UMLS:C0030252
has exact synonym: Heart palpitations
has exact synonym: Missed heart beat
has exact synonym: Palpitations
has exact synonym: Skipped heart beat
has OBO namespace: human_phenotype
id: HP:0001962
type: Class
subclass of: HP_0011675
notation: HP:0001962

Abnormal speech discrimination
tree view: Hearing abnormality
IAO_0000115: A type of hearing impairment prominently characterized by a difficulty in understanding speech, rather than an inability to hear speech. Poor speech discrimination is a very common symptom of high frequency hearing loss.
has db xref: UMLS:C1836752
has exact synonym: Abnormal speech discrimination
has exact synonym: Poor speech discrimination
has OBO namespace: human_phenotype
id: HP:0001963
type: Class
subclass of: Hearing abnormality
notation: HP:0001963

Aplasia/Hypoplasia of metatarsal bones
tree view: Abnormal metatarsal morphology
tree view: HP_0006494
IAO_0000115: Absence or underdevelopment of the metatarsal bones.
has db xref: UMLS:C1860182
has exact synonym: Absent or hypoplastic metatarsal
has exact synonym: Absent/hypoplastic metacarpals
has exact synonym: Absent/hypoplastic metatarsals
has exact synonym: Absent/small long bone of foot
has exact synonym: Absent/underdeveloped long bone of foot
has exact synonym: Aplastic/hypoplastic metatarsals
has OBO namespace: human_phenotype
id: HP:0001964
type: Class
subclass of: Abnormal metatarsal morphology
subclass of: HP_0006494
notation: HP:0001964

Abnormality of the scalp
tree view: Abnormality of the head
IAO_0000115: Any anomaly of the scalp, the skin an subcutaneous tissue of the head on which head hair grows.
has db xref: UMLS:C4025734
has exact synonym: Abnormality of the scalp
has exact synonym: Anomaly of scalp
has OBO namespace: human_phenotype
id: HP:0001965
type: Class
comment: The scalp of the head has the following five layers: 1) skin and head hair; 2) connective tissue; 3) the aponeurosis (a layer of dense fibrous tissue); 4) loose areolar connective tissue; and 5) the periosteum of the skull bones.
subclass of: Abnormality of the head
notation: HP:0001965

Mesangial abnormality
tree view: Abnormality of renal glomerulus morphology
IAO_0000115: An abnormality of the mesangium, i.e., of the central part of the renal glomerulus between capillaries.
has db xref: UMLS:C4025733
has OBO namespace: human_phenotype
id: HP:0001966
type: Class
subclass of: Abnormality of renal glomerulus morphology
notation: HP:0001966

Diffuse mesangial sclerosis
tree view: Mesangial abnormality
IAO_0000115: Diffuse sclerosis of the mesangium, as manifestated by diffuse mesangial matrix expansion.
has alternative id: HP:0004728
has db xref: MSH:C537346
has db xref: SNOMEDCT_US:111406002
has db xref: UMLS:C0268747
has exact synonym: Diffuse mesangial sclerosis glomerulopathy
has exact synonym: Mesangial sclerosis
has OBO namespace: human_phenotype
id: HP:0001967
type: Class
comment: This finding can be demonstrated by renal biopsy.
subclass of: Mesangial abnormality
notation: HP:0001967

HP_0001968
IAO_0000231: IAO_0000227
IAO_0100001: Renal hypoplasia
type: Class
deprecated: true
notation: HP:0001968

Tubulointerstitial abnormality
tree view: Abnormal renal tubule morphology
IAO_0000115: An abnormality that involves the tubules and interstitial tissue of the kidney.
has alternative id: HP:0008654
has db xref: MSH:D009395
has db xref: SNOMEDCT_US:28689008
has db xref: SNOMEDCT_US:428255004
has db xref: UMLS:C0041349
has db xref: UMLS:C4025732
has OBO namespace: human_phenotype
has related synonym: Tubulointerstitial nephropathy
id: HP:0001969
type: Class
subclass of: Abnormal renal tubule morphology
notation: HP:0001969

Tubulointerstitial nephritis
tree view: Tubulointerstitial abnormality
IAO_0000115: A form of inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules.
has db xref: MSH:D009395
has db xref: SNOMEDCT_US:28689008
has db xref: SNOMEDCT_US:428255004
has db xref: UMLS:C0041349
has exact synonym: Interstitial nephritis
has exact synonym: Nephritis, Tubulointerstitial
has OBO namespace: human_phenotype
id: HP:0001970
type: Class
subclass of: Tubulointerstitial abnormality
notation: HP:0001970

Hypersplenism
tree view: HP_0025409
IAO_0000115: A malfunctioning of the spleen in which it prematurely destroys red blood cells.
has db xref: MSH:D006971
has db xref: SNOMEDCT_US:58381000
has db xref: UMLS:C0020532
has OBO namespace: human_phenotype
id: HP:0001971
type: Class
comment: The spleen normally functions to remove senescent red blood cells (RBCs) from the circulation. Hypersplenism represents a pathological acceleration of this function, resulting in the premature removal from the circulation of RBCs and other cellular components of the blood, often accompanied by an increase in size of the spleen (splenomegaly).
subclass of: HP_0025409
notation: HP:0001971

Macrocytic anemia
tree view: HP_0010972
IAO_0000115: A type of anemia characterized by increased size of erythrocytes with increased mean corpuscular volume (MCV) and increased mean corpuscular hemoglobin (MCH).
has db xref: MSH:D000748
has db xref: SNOMEDCT_US:83414005
has db xref: UMLS:C0002886
has OBO namespace: human_phenotype
id: HP:0001972
type: Class
comment: The causes of macrocytosis can be broadly classified as megaloblastic and nonmegaloblastic. Megaloblastic processes are characterized on the peripheral smear by macroovalocytes and hypersegmented neutrophils, which are absent in nonmegaloblastic macrocytic processes. Nonmegaloblastic processes have round macrocytes or macroreticulocytes.
subclass of: HP_0010972
notation: HP:0001972

Autoimmune thrombocytopenia
tree view: Thrombocytopenia
tree view: Autoimmunity
IAO_0000115: The presence of thrombocytopenia in combination with detection of antiplatelet antibodies.
has alternative id: HP:0001936
has alternative id: HP:0004806
has alternative id: HP:0004829
has db xref: MSH:D016553
has db xref: SNOMEDCT_US:128091003
has db xref: SNOMEDCT_US:13172003
has db xref: SNOMEDCT_US:234490009
has db xref: SNOMEDCT_US:32273002
has db xref: UMLS:C0242584
has db xref: UMLS:C0398650
has db xref: UMLS:C0920163
has exact synonym: Idiopathic thrombocytopenia
has exact synonym: Immune thrombocytopenia
has OBO namespace: human_phenotype
has related synonym: Idiopathic thrombocytopenic purpura
id: HP:0001973
type: Class
comment: Autoimmune thrombocytopenia is causes by accelerated destruction of auto-antibody sensitized platelets in the reticular-endothelial system. Common etiologies include idiopathic thrombocytopenic purpura (ITP), Drug-induced autoimmune thrombocytopenia, and autoimmune thrombocytopenia following viral infection.
subclass of: Thrombocytopenia
subclass of: Autoimmunity
notation: HP:0001973

Leukocytosis
tree view: HP_0011893
IAO_0000115: An abnormal increase in the number of leukocytes in the blood.
has db xref: MSH:D007964
has db xref: SNOMEDCT_US:111583006
has db xref: UMLS:C0023518
has exact synonym: Elevated white blood count
has exact synonym: High white blood count
has exact synonym: Increased blood leukocyte number
has OBO namespace: human_phenotype
id: HP:0001974
type: Class
subclass of: HP_0011893
notation: HP:0001974

Decreased platelet glycoprotein IIb-IIIa
tree view: HP_0011878
IAO_0000115: Decreased cell membrane concentration of glycoprotein IIb-IIIa.
has db xref: MSH:D013915
has db xref: SNOMEDCT_US:32942005
has db xref: UMLS:C0040015
has db xref: UMLS:C4021767
has exact synonym: Reduced level of platelet glycoprotein IIb/IIIa complex
has OBO namespace: human_phenotype
has related synonym: Glanzmann thrombasthenia
id: HP:0001975
type: Class
comment: The glycoprotein IIb-IIIa is an integrin complex found on platelets that acts a receptor for fibrinogen and aids in platelet activation.
subclass of: HP_0011878
notation: HP:0001975

Reduced antithrombin III activity
tree view: HP_0010988
tree view: HP_0010989
IAO_0000115: An abnormality of coagulation related to a decreased concentration of antithrombin-III.
has db xref: MSH:D020152
has db xref: SNOMEDCT_US:36351005
has db xref: UMLS:C0272375
has exact synonym: Anti-thrombin III deficiency
has exact synonym: Antithrombin III deficiency
has exact synonym: Decreased antithrombin III
has OBO namespace: human_phenotype
id: HP:0001976
type: Class
comment: Antithrombin III (ATIII) inhibits the coagulation cascade by lysing thrombin and factor Xa. The defective inhibition of the coagulation cascade is associated with an increased risk of venous and arterial thrombosis. The physiological target proteases of antithrombin are those of the intrinsic pathway, namely the activated forms of Factor X, Factor IX, Factor XI, Factor XII, and, to a greater extent, Factor II (thrombin), and also the activated form of Factor VII (VIIa) from the the extrinsic pathway.
subclass of: HP_0010988
subclass of: HP_0010989
notation: HP:0001976

Abnormal thrombosis
tree view: Abnormality of blood and blood-forming tissues
IAO_0000115: Venous or arterial thrombosis (formation of blood clots) of spontaneous nature and which cannot be fully explained by acquired risk (e.g. atherosclerosis).
has db xref: UMLS:C4025731
has exact synonym: Abnormal blood clot
has OBO namespace: human_phenotype
id: HP:0001977
type: Class
subclass of: Abnormality of blood and blood-forming tissues
notation: HP:0001977

Extramedullary hematopoiesis
tree view: Abnormality of blood and blood-forming tissues
IAO_0000115: The process of hematopoiesis occurring outside of the bone marrow (in the liver, thymus, and spleen) in the postnatal organisms.
has alternative id: HP:0004847
has db xref: SNOMEDCT_US:124958002
has db xref: SNOMEDCT_US:42952007
has db xref: UMLS:C1292120
has db xref: UMLS:C2613439
has OBO namespace: human_phenotype
has related synonym: Extramedullary erythropoiesis
id: HP:0001978
type: Class
comment: During fetal life, the formation of cellular blood components occurs mainly in the liver, shifting to the bone marrow postnatally. SOme pathological conditions associated with a severe reduction of marrow hematopoiesis are associated with extramedullary hematopoiesis.
subclass of: Abnormality of blood and blood-forming tissues
notation: HP:0001978

HP_0001979
IAO_0000231: IAO_0000227
IAO_0100001: Bone-marrow foam cells
type: Class
deprecated: true
notation: HP:0001979

Megaloblastic bone marrow
tree view: HP_0012145
IAO_0000115: Abnormal increased number of megaloblasts in the bone marrow.
has db xref: SNOMEDCT_US:167921008
has db xref: UMLS:C0238801
has OBO namespace: human_phenotype
id: HP:0001980
type: Class
comment: A megaloblast is an abnormally large nucleated red blood cell found especially in people with pernicious anemia. Megaloblasts, like their normal counterparts, normoblasts, are immature red cell precursors in the bone marrow. Megaloblasts display both a larger size than normoblasts as well as a fine reticular nuclear structure.
subclass of: HP_0012145
notation: HP:0001980

Schistocytosis
tree view: Poikilocytosis
IAO_0000115: The presence of an abnormal number of fragmented red blood cells (schistocytes) in the blood.
has db xref: SNOMEDCT_US:385472000
has db xref: UMLS:C0344386
has exact synonym: Schistocytes
has OBO namespace: human_phenotype
id: HP:0001981
type: Class
subclass of: Poikilocytosis
notation: HP:0001981

Sea-blue histiocytosis
tree view: Abnormal macrophage morphology
IAO_0000115: An abnormality of histiocytes, in which the cells take on a sea blue appearance due to abnormally increased lipid content. Histiocytes are a type of macrophage. Sea-blue histiocytes are typically large macrophages from 20 to 60 micrometers in diameter with a single eccentric nucleus whose cytoplasm if packed with sea-blue or blue-green granules when stained with Wright-Giemsa.
has db xref: MSH:D012618
has db xref: SNOMEDCT_US:37821003
has db xref: UMLS:C0036489
has exact synonym: 'Sea blue' histiocytes
has exact synonym: Sea-blue histiocyte
has OBO namespace: human_phenotype
id: HP:0001982
type: Class
subclass of: Abnormal macrophage morphology
notation: HP:0001982

Reduced lymphocyte surface expression of CD43
tree view: HP_0031383
IAO_0000115: A reduction in the expression of CD43 on the cell surface of lymphocytes.
has db xref: UMLS:C4021766
has exact synonym: Cd43 defectively expressed on surface of blood cells
has exact synonym: Reduced lymphocyte surface expression of sialophorin
has OBO namespace: human_phenotype
id: HP:0001983
type: Class
comment: CD43 is a cell-surface sialoglycoprotein that is expressed, typically at high levels, on all leukocytes except most resting B lymphocytes.
subclass of: HP_0031383
notation: HP:0001983

Intolerance to protein
tree view: HP_0012537
has db xref: UMLS:C1396243
has OBO namespace: human_phenotype
id: HP:0001984
type: Class
subclass of: HP_0012537
notation: HP:0001984

Hypoketotic hypoglycemia
tree view: Hypoglycemia
IAO_0000115: A decreased concentration of glucose in the blood associated with a reduced concentration of ketone bodies.
has alternative id: HP:0005969
has db xref: UMLS:C1856438
has exact synonym: Hypoglycemia, hypoketotic
has OBO namespace: human_phenotype
id: HP:0001985
type: Class
comment: Normally, decreased glucose production leads to increased mitochondrial fatty acid beta-oxidation and the production of ketones. Thus, ketones provide an indication of whether the hypoglycemia is a result of inadequate production or overutilization of glucose (which tends to be associated with low plasma ketone levels). Hypoketotic hypoglycemia developing within several minutes of feeding is typical of hyperinsulinism. A good starting point for evaluating hypoglycemia is to divide patients into ketotic or non-ketotic. Normal physiologic response to decreased glucose production is increased mitochondrial fatty acid beta-oxidation and the production of ketones. Ketones provide an indirect indication of whether hypoglycemia is the result of inadequate production or of over-utilization of glucose (insulin-induced over-utilization, associated with low urine or plasma ketones). The history of the relationship of the hypoglycemia to feeding is often helpful. Hypoketotic hypoglycemia developing within several minutes of feeding is typical of hyperinsulinism. Patients with defects in glycogen breakdown, gluconeogenesis, or fatty acid oxidation tend to tolerate short-term fasting much better.
subclass of: Hypoglycemia
notation: HP:0001985

Hypertonic dehydration
tree view: Dehydration
has db xref: UMLS:C1112601
has exact synonym: Hyperosmolar dehydration
has OBO namespace: human_phenotype
id: HP:0001986
type: Class
subclass of: Dehydration
notation: HP:0001986

Hyperammonemia
tree view: Azotemia
IAO_0000115: An increased concentration of ammonia in the blood.
has alternative id: HP:0008308
has alternative id: HP:0008334
has db xref: MSH:D022124
has db xref: SNOMEDCT_US:9360008
has db xref: UMLS:C0220994
has exact synonym: High blood ammonia levels
has OBO namespace: human_phenotype
id: HP:0001987
type: Class
subclass of: Azotemia
notation: HP:0001987

Recurrent hypoglycemia
tree view: Hypoglycemia
IAO_0000115: Recurrent episodes of decreased concentration of glucose in the blood.
has db xref: UMLS:C1846288
has exact synonym: Hypoglycemic episodes
has exact synonym: Recurrent hypoglycaemia
has exact synonym: Recurrent hypoglycemic episodes
has exact synonym: Recurrent low blood sugar levels
has exact synonym: hypoglycaemia, recurrent
has exact synonym: hypoglycemia, recurrent
has OBO namespace: human_phenotype
id: HP:0001988
type: Class
subclass of: Hypoglycemia
notation: HP:0001988

Fetal akinesia sequence
tree view: Decreased fetal movement
IAO_0000115: Decreased fetal activity associated with multiple joint contractures, facial anomalies and pulmonary hypoplasia. Ultrasound examination may reveal polyhydramnios, ankylosis, scalp edema, and decreased chest movements (reflecting pulmonary hypoplasia).
has db xref: MSH:C536647
has db xref: SNOMEDCT_US:401138005
has db xref: UMLS:C1276035
has db xref: UMLS:C3151520
has OBO namespace: human_phenotype
has related synonym: Early severe fetal akinesia sequence
has related synonym: Fetal akinesia
id: HP:0001989
in subset: hposlim core
type: Class
subclass of: Decreased fetal movement
notation: HP:0001989

HP_0001990
IAO_0000231: IAO_0000227
IAO_0100001: HP_0010621
type: Class
deprecated: true
notation: HP:0001990

Aplasia/Hypoplasia of toe
tree view: Abnormality of toe
tree view: HP_0006494
IAO_0000115: Absence or hypoplasia of toes.
has db xref: UMLS:C3551148
has exact synonym: Absent/small toe
has exact synonym: Absent/underdeveloped toe
has exact synonym: Aplastic/hypoplastic toe phalanges
has OBO namespace: human_phenotype
has related synonym: Absent/hypoplastic toes
id: HP:0001991
type: Class
subclass of: Abnormality of toe
subclass of: HP_0006494
notation: HP:0001991

Organic aciduria
tree view: HP_0012072
IAO_0000115: Excretion of non-amino organic acids in urine.
has db xref: UMLS:C0241775
has OBO namespace: human_phenotype
id: HP:0001992
type: Class
subclass of: HP_0012072
notation: HP:0001992

Ketoacidosis
tree view: Acidosis
tree view: Ketosis
IAO_0000115: Acidosis resulting from accumulation of ketone bodies.
has db xref: SNOMEDCT_US:56051008
has db xref: UMLS:C0220982
has OBO namespace: human_phenotype
id: HP:0001993
type: Class
comment: Ketoacidosis can result from diabetes, alcoholic ketoacidosis, prolonged fasting, as well as several hereditary diseases of metabolism.
subclass of: Acidosis
subclass of: Ketosis
notation: HP:0001993

Renal Fanconi syndrome
tree view: HP_0011038
IAO_0000115: An inability of the tubules in the kidney to reabsorb small molecules, causing increased urinary loss of electrolytes (sodium, potassium, bicarbonate), minerals, glucose, amino acids, and water.
has db xref: MSH:D005198
has db xref: SNOMEDCT_US:236468006
has db xref: SNOMEDCT_US:44673006
has db xref: UMLS:C0341703
has exact synonym: 'de toni-fanconi-debre' syndrome
has exact synonym: Renal tubular fanconi syndrome
has OBO namespace: human_phenotype
id: HP:0001994
type: Class
subclass of: HP_0011038
notation: HP:0001994

Hyperchloremic acidosis
tree view: Acidosis
has db xref: SNOMEDCT_US:18104000
has db xref: UMLS:C0085569
has OBO namespace: human_phenotype
id: HP:0001995
type: Class
subclass of: Acidosis
notation: HP:0001995

Chronic metabolic acidosis
tree view: Metabolic acidosis
tree view: HP_0012468
IAO_0000115: Longstanding metabolic acidosis.
has db xref: UMLS:C0740749
has OBO namespace: human_phenotype
id: HP:0001996
type: Class
comment: Severe chronic metabolic acidosis has two well-recognized major systemic consequences. First, metabolic acidosis, or acidemia, induces increased protein catabolism, decreased protein synthesis, and negative nitrogen and total body protein balance, which improve upon bicarbonate supplementation. Second, metabolic acidosis causes physicochemical dissolution of bone and cell-mediated bone resorption by inhibition of osteoblast and stimulation of osteoclast function.
subclass of: Metabolic acidosis
subclass of: HP_0012468
notation: HP:0001996

Gout
tree view: Arthritis
IAO_0000115: Recurrent attacks of acute inflammatory arthritis of a joint or set of joints caused by elevated levels of uric acid in the blood which crystallize and are deposited in joints, tendons, and surrounding tissues.
has alternative id: HP:0001368
has db xref: MSH:D006073
has db xref: MSH:D015210
has db xref: SNOMEDCT_US:170733007
has db xref: SNOMEDCT_US:190828008
has db xref: SNOMEDCT_US:48440001
has db xref: SNOMEDCT_US:90560007
has db xref: UMLS:C0003868
has db xref: UMLS:C0018099
has exact synonym: Gouty arthritis
has OBO namespace: human_phenotype
id: HP:0001997
type: Class
subclass of: Arthritis
notation: HP:0001997

Neonatal hypoglycemia
tree view: Hypoglycemia
has db xref: SNOMEDCT_US:52767006
has db xref: UMLS:C0158986
has exact synonym: Low blood sugar in newborn
has OBO namespace: human_phenotype
id: HP:0001998
type: Class
subclass of: Hypoglycemia
notation: HP:0001998

Abnormal facial shape
tree view: Abnormality of the face
IAO_0000115: An abnormal morphology (form) of the face or its components.
has alternative id: HP:0002004
has alternative id: HP:0002260
has alternative id: HP:0004643
has alternative id: HP:0004649
has alternative id: HP:0004652
has alternative id: HP:0004655
has alternative id: HP:0004675
has alternative id: HP:0005124
has broad synonym: Deformity of face
has broad synonym: Malformation of face
has db xref: SNOMEDCT_US:248200007
has db xref: SNOMEDCT_US:32003007
has db xref: SNOMEDCT_US:398206004
has db xref: SNOMEDCT_US:398302004
has db xref: UMLS:C0266617
has db xref: UMLS:C0424503
has db xref: UMLS:C1385263
has db xref: UMLS:C4072832
has db xref: UMLS:C4072833
has exact synonym: Abnormal facial shape
has exact synonym: Abnormal morphology of the face
has exact synonym: Distinctive facies
has exact synonym: Dysmorphic facial features
has exact synonym: Dysmorphic facies
has exact synonym: Facial dysmorphism
has exact synonym: Unusual facial appearance
has exact synonym: Unusual facies
has OBO namespace: human_phenotype
has related synonym: Distortion of face
has related synonym: Funny looking face
id: HP:0001999
in subset: hposlim core
type: Class
comment: This term now covers many of the historical inexact descriptions such as Bird-like facies that probably should be avoided in modern genetics. This portion of the Ontology should be revised.
subclass of: Abnormality of the face
notation: HP:0001999

Short columella
tree view: HP_0009929
IAO_0000115: Reduced distance from the anterior border of the naris to the subnasale.
has db xref: UMLS:C1857479
has db xref: UMLS:C4280585
has exact synonym: Columella, short
has exact synonym: Decreased length of columella
has OBO namespace: human_phenotype
has related synonym: Hypoplasia of columella
id: HP:0002000
in subset: hposlim core
type: Class
comment: This is often accompanied by a Depressed nasal tip but this should be assessed and coded separately. The term Absent columella has been deleted because a columella is thought to always be present, except in Single naris and Proboscis.
subclass of: HP_0009929
notation: HP:0002000

HP_0002001
IAO_0000231: IAO_0000227
IAO_0100001: Hypertelorism
type: Class
deprecated: true
notation: HP:0002001

Deep philtrum
tree view: Abnormality of the philtrum
IAO_0000115: Accentuated, prominent philtral ridges giving rise to an exaggerated groove in the midline between the nasal base and upper vermillion border.
has alternative id: HP:0000305
has alternative id: HP:0004654
has db xref: UMLS:C1839797
has db xref: UMLS:C4020861
has exact synonym: Increased depth of philtrum
has exact synonym: Philtrum, deep
has exact synonym: Prominent philtrum
has exact synonym: Pronounced philtrum
has OBO namespace: human_phenotype
has related synonym: Depressed philtrum
id: HP:0002002
in subset: hposlim core
type: Class
comment: Some have used the term depressed philtrum, suggesting the presence of normal philtral ridges with a deeper groove, while admitting the difficulty in distinguishing this from prominent ridges with a normal philtral groove. We are unaware of a truly deepened philtral groove with normal height of the ridges.
subclass of: Abnormality of the philtrum
notation: HP:0002002

Large forehead
tree view: Abnormality of the forehead
has db xref: UMLS:C1839783
has db xref: UMLS:C4280583
has db xref: UMLS:C4280584
has exact synonym: Increased size of forehead
has exact synonym: Increased size of frontal region of face
has exact synonym: Large forehead
has narrow synonym: Hyperplasia of forehead
has narrow synonym: Hypertrophy of forehead
has OBO namespace: human_phenotype
id: HP:0002003
type: Class
subclass of: Abnormality of the forehead
notation: HP:0002003

HP_0002004
IAO_0000231: IAO_0000227
IAO_0100001: Abnormal facial shape
type: Class
deprecated: true
notation: HP:0002004

HP_0002005
IAO_0000231: IAO_0000227
IAO_0100001: Micrognathia
type: Class
deprecated: true
notation: HP:0002005

Facial cleft
tree view: Abnormality of the face
IAO_0000115: A congenital malformation with a cleft (gap or opening) in the face.
has db xref: SNOMEDCT_US:92821006
has db xref: UMLS:C0685787
has exact synonym: Cleft of the face
has exact synonym: Facial cleft
has exact synonym: Tessier facial cleft
has OBO namespace: human_phenotype
has related synonym: Facial clefts
id: HP:0002006
in subset: hposlim core
type: Class
comment: The categories of facial cleft (subterms) correspond to Tessier, P (1976) Classification of rare craniofacial clefts, Journal of Maxillofacial Surgery; 4:69-92. There exists a competing classification system by Van der Meulen that divides different types of clefts based on where the development arrest occurs in the embryogenesis. The HPO uses the Tessier classification because it is based on phenotype rather than pathophysiological considerations.
subclass of: Abnormality of the face
notation: HP:0002006

Frontal bossing
tree view: Abnormality of the forehead
tree view: HP_0011218
IAO_0000115: Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
has alternative id: HP:0000254
has alternative id: HP:0000333
has alternative id: HP:0001358
has alternative id: HP:0001359
has db xref: SNOMEDCT_US:90145001
has db xref: UMLS:C0221354
has exact synonym: Frontal protruberance
has exact synonym: Skull bossing
has OBO namespace: human_phenotype
id: HP:0002007
in subset: hposlim core
type: Class
comment: This is not the same as prominent forehead.
subclass of: Abnormality of the forehead
subclass of: HP_0011218
notation: HP:0002007

HP_0002008
IAO_0000231: IAO_0000227
IAO_0100001: HP_0010628
type: Class
deprecated: true
notation: HP:0002008

Potter facies
tree view: HP_0011334
IAO_0000115: A facial appearance characteristic of a fetus or neonate due to oligohydramnios experienced in the womb, comprising ocular hypertelorism, low-set ears, receding chin, and flattening of the nose.
has db xref: SNOMEDCT_US:24814002
has db xref: UMLS:C0266619
has OBO namespace: human_phenotype
id: HP:0002009
type: Class
comment: Potter sequence is a sequence of events resulting from oligohydramnios due to any of a number of causes such as bilateral renal agenesis. Affected fetuses often have a characteristic facial appearance.
subclass of: HP_0011334
notation: HP:0002009

Narrow maxilla
tree view: Abnormality of the maxilla
has db xref: UMLS:C1851835
has exact synonym: Decreased breadth of upper jaw bones
has exact synonym: Decreased transverse dimension of maxilla
has exact synonym: Decreased width of maxilla
has exact synonym: Decreased width of upper jaw bones
has exact synonym: Narrow upper jaw bones
has exact synonym: Transverse hypoplasia of maxilla
has exact synonym: Transverse maxillary deficiency
has exact synonym: Transverse maxillary insufficiency
has OBO namespace: human_phenotype
id: HP:0002010
type: Class
subclass of: Abnormality of the maxilla
notation: HP:0002010

Morphological abnormality of the central nervous system
tree view: HP_0012639
IAO_0000115: A structural abnormality of the central nervous system.
has alternative id: HP:0002405
has alternative id: HP:0002413
has alternative id: HP:0002481
has alternative id: HP:0007319
has db xref: MSH:D002493
has db xref: SNOMEDCT_US:23853001
has db xref: UMLS:C0007682
has db xref: UMLS:C4021765
has exact synonym: Abnormality of the central nervous system
has exact synonym: Morphological abnormality of the CNS
has OBO namespace: human_phenotype
has related synonym: Central nervous system disease
id: HP:0002011
type: Class
subclass of: HP_0012639
notation: HP:0002011

Abnormality of the abdominal organs
tree view: HP_0025031
IAO_0000115: An abnormality of the viscera of the abdomen.
has db xref: UMLS:C4021764
has exact synonym: Abnormality of the abdominal organs
has exact synonym: Gastrointestinal tract defects
has OBO namespace: human_phenotype
id: HP:0002012
type: Class
comment: The abdominal organs comprise the stomach, small and large intestines, liver, pancreas, bile tract, and spleen.
subclass of: HP_0025031
notation: HP:0002012

Vomiting
tree view: Nausea and vomiting
IAO_0000115: Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.
has db xref: MEDDRA:10047700
has db xref: MSH:D014839
has db xref: SNOMEDCT_US:249497008
has db xref: SNOMEDCT_US:300359004
has db xref: SNOMEDCT_US:422400008
has db xref: UMLS:C0042963
has exact synonym: Emesis
has exact synonym: Throwing up
has exact synonym: Vomiting
has OBO namespace: human_phenotype
id: HP:0002013
in subset: hposlim core
type: Class
subclass of: Nausea and vomiting
notation: HP:0002013

Diarrhea
tree view: HP_0011458
IAO_0000115: Abnormally increased frequency of loose or watery bowel movements.
has db xref: MSH:D003967
has db xref: SNOMEDCT_US:267060006
has db xref: SNOMEDCT_US:62315008
has db xref: UMLS:C0011991
has exact synonym: Diarrhea
has exact synonym: Diarrhoea
has exact synonym: Watery stool
has OBO namespace: human_phenotype
id: HP:0002014
type: Class
subclass of: HP_0011458
notation: HP:0002014

Dysphagia
tree view: HP_0012638
tree view: HP_0025270
IAO_0000115: Difficulty in swallowing.
has alternative id: HP:0002569
has db xref: MEDDRA:10013950
has db xref: MSH:D003680
has db xref: SNOMEDCT_US:288939007
has db xref: SNOMEDCT_US:40739000
has db xref: UMLS:C0011168
has exact synonym: Poor swallowing
has exact synonym: Swallowing difficulties
has exact synonym: Swallowing difficulty
has OBO namespace: human_phenotype
has related synonym: Deglutition disorder
id: HP:0002015
in subset: hposlim core
type: Class
subclass of: HP_0012638
subclass of: HP_0025270
notation: HP:0002015

HP_0002016
IAO_0000231: IAO_0000227
IAO_0100001: HP_0008872
type: Class
deprecated: true
notation: HP:0002016

Nausea and vomiting
tree view: HP_0011458
has db xref: SNOMEDCT_US:16932000
has db xref: UMLS:C0027498
has exact synonym: Nausea and vomiting
has OBO namespace: human_phenotype
id: HP:0002017
type: Class
subclass of: HP_0011458
notation: HP:0002017

Nausea
tree view: Nausea and vomiting
IAO_0000115: A sensation of unease in the stomach together with an urge to vomit.
has db xref: MEDDRA:10028813
has db xref: MSH:D009325
has db xref: SNOMEDCT_US:422587007
has db xref: UMLS:C0027497
has exact synonym: Nausea
has OBO namespace: human_phenotype
id: HP:0002018
in subset: hposlim core
type: Class
subclass of: Nausea and vomiting
notation: HP:0002018

Constipation
tree view: HP_0011458
IAO_0000115: Infrequent or difficult evacuation of feces.
has alternative id: HP:0002241
has alternative id: HP:0003786
has db xref: MSH:D003248
has db xref: SNOMEDCT_US:14760008
has db xref: SNOMEDCT_US:225595004
has db xref: UMLS:C0009806
has db xref: UMLS:C0237326
has exact synonym: Constipation
has exact synonym: Costiveness
has exact synonym: Dyschezia
has OBO namespace: human_phenotype
id: HP:0002019
type: Class
subclass of: HP_0011458
notation: HP:0002019

Gastroesophageal reflux
tree view: Abnormality of the stomach
tree view: HP_0025270
IAO_0000115: A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter.
has alternative id: HP:0004793
has db xref: MSH:D005764
has db xref: MSH:D006356
has db xref: SNOMEDCT_US:16331000
has db xref: SNOMEDCT_US:235595009
has db xref: SNOMEDCT_US:698065002
has db xref: UMLS:C0017168
has db xref: UMLS:C0018834
has exact synonym: Acid reflux
has exact synonym: Acid reflux disease
has exact synonym: GERD
has exact synonym: Gastroesophageal reflux disease
has exact synonym: Heartburn
has OBO namespace: human_phenotype
id: HP:0002020
in subset: hposlim core
type: Class
subclass of: Abnormality of the stomach
subclass of: HP_0025270
notation: HP:0002020

Pyloric stenosis
tree view: Abnormality of the pylorus
IAO_0000115: An abnormal narrowing of the pylorus.
has db xref: Fyler:4444
has db xref: MEDDRA:10037621
has db xref: MSH:D011707
has db xref: SNOMEDCT_US:367403001
has db xref: UMLS:C0034194
has OBO namespace: human_phenotype
id: HP:0002021
in subset: hposlim core
type: Class
comment: Pyloric stenosis occurs in the first few months of life.
subclass of: Abnormality of the pylorus
notation: HP:0002021

HP_0002022
IAO_0000231: IAO_0000227
IAO_0100001: HP_0008872
type: Class
deprecated: true
notation: HP:0002022

Anal atresia
tree view: Abnormality of the anus
IAO_0000115: Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract.
has alternative id: HP:0001550
has db xref: Fyler:4402
has db xref: Fyler:4443
has db xref: MEDDRA:10002120
has db xref: MSH:D001006
has db xref: SNOMEDCT_US:204712000
has db xref: SNOMEDCT_US:204731006
has db xref: UMLS:C0003466
has exact synonym: Absent anus
has OBO namespace: human_phenotype
has related synonym: Imperforate anus
id: HP:0002023
in subset: hposlim core
type: Class
subclass of: Abnormality of the anus
notation: HP:0002023

Malabsorption
tree view: Abnormal intestine morphology
IAO_0000115: Impaired ability to absorb one or more nutrients from the intestine.
has alternative id: HP:0008270
has db xref: UMLS:C3714745
has exact synonym: Intestinal malabsorption
has exact synonym: Malabsorption
has OBO namespace: human_phenotype
id: HP:0002024
type: Class
subclass of: Abnormal intestine morphology
notation: HP:0002024

Anal stenosis
tree view: Abnormality of the anus
IAO_0000115: Abnormal narrowing of the anal opening.
has db xref: MEDDRA:10002176
has db xref: SNOMEDCT_US:250037002
has db xref: SNOMEDCT_US:69914001
has db xref: UMLS:C0262374
has exact synonym: Narrowing of anal opening
has OBO namespace: human_phenotype
id: HP:0002025
in subset: hposlim core
type: Class
subclass of: Abnormality of the anus
notation: HP:0002025

HP_0002026
IAO_0000231: IAO_0000227
IAO_0100001: Intestinal malrotation
type: Class
deprecated: true
notation: HP:0002026

Abdominal pain
tree view: HP_0011458
tree view: HP_0012531
IAO_0000115: An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.
has broad synonym: Gastro pain
has broad synonym: Gastrointestinal pain
has db xref: MEDDRA:10000081
has db xref: MSH:D015746
has db xref: SNOMEDCT_US:21522001
has db xref: UMLS:C0000737
has exact synonym: Abdominal pain
has exact synonym: Pain in stomach
has exact synonym: Stomach pain
has OBO namespace: human_phenotype
has related synonym: Abdominal discomfort
has related synonym: Upset stomach
id: HP:0002027
in subset: hposlim core
type: Class
comment: Abdominal pain can be crampy, achy, dull, intermittent or sharp. The terms stomach ache and stomach cramps are nonmedical terms often used to describe pain in the mid- or upper abdominal area, even though it is not the case that the (smooth) muscles of the stomach or the abdomen have cramps. Stomach pain is another layperson term commonly used to refer to abdominal pain.
subclass of: HP_0011458
subclass of: HP_0012531
notation: HP:0002027

Chronic diarrhea
tree view: Diarrhea
IAO_0000115: The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks.
has db xref: SNOMEDCT_US:236071009
has db xref: UMLS:C0401151
has exact synonym: Chronic diarrhea
has OBO namespace: human_phenotype
has related synonym: Diarrhea, recurrent
has related synonym: Recurrent diarrhea
id: HP:0002028
type: Class
subclass of: Diarrhea
notation: HP:0002028

HP_0002029
IAO_0000231: IAO_0000227
IAO_0100001: Aganglionic megacolon
type: Class
deprecated: true
notation: HP:0002029

HP_0002030
IAO_0000231: IAO_0000227
IAO_0100001: Aganglionic megacolon
type: Class
deprecated: true
notation: HP:0002030

Abnormal esophagus morphology
tree view: HP_0012718
IAO_0000115: A structural abnormality of the esophagus.
has db xref: SNOMEDCT_US:69771008
has db xref: UMLS:C0266126
has exact synonym: Abnormality of esophagus morphology
has exact synonym: Anomaly of the esophagus
has OBO namespace: human_phenotype
id: HP:0002031
type: Class
subclass of: HP_0012718
notation: HP:0002031

Esophageal atresia
tree view: Abnormal esophagus morphology
tree view: Gastrointestinal atresia
IAO_0000115: A developmental defect resulting in complete obliteration of the lumen of the esophagus such that the esophagus ends in a blind pouch rather than connecting to the stomach.
has db xref: Fyler:4412
has db xref: MSH:D004933
has db xref: SNOMEDCT_US:26179002
has db xref: UMLS:C0014850
has exact synonym: Birth defect in which part of esophagus did not develop
has OBO namespace: human_phenotype
id: HP:0002032
type: Class
subclass of: Abnormal esophagus morphology
subclass of: Gastrointestinal atresia
notation: HP:0002032

Poor suck
tree view: HP_0008872
IAO_0000115: An inadequate sucking reflex, resulting in the difficult of newborns to be breast-fed.
has db xref: UMLS:C1837142
has exact synonym: Poor suck
has exact synonym: Poor sucking
has OBO namespace: human_phenotype
id: HP:0002033
type: Class
subclass of: HP_0008872
notation: HP:0002033

Abnormality of the rectum
tree view: Abnormal large intestine morphology
tree view: HP_0012732
IAO_0000115: An abnormaltiy of the rectum, the final segment of the large intestine that stores solid waste until it passes through the anus.
has db xref: SNOMEDCT_US:86993003
has db xref: UMLS:C0266210
has exact synonym: Abnormality of the rectum
has exact synonym: Anomaly of the rectum
has OBO namespace: human_phenotype
id: HP:0002034
type: Class
subclass of: Abnormal large intestine morphology
subclass of: HP_0012732
notation: HP:0002034

Rectal prolapse
tree view: Abnormality of the rectum
IAO_0000115: Protrusion of the rectal mucous membrane through the anus.
has db xref: MEDDRA:10038077
has db xref: MSH:D012005
has db xref: SNOMEDCT_US:57773001
has db xref: UMLS:C0034888
has exact synonym: Rectum protrudes through anus
has OBO namespace: human_phenotype
has related synonym: Rectal prolapsed
id: HP:0002035
in subset: hposlim core
type: Class
subclass of: Abnormality of the rectum
notation: HP:0002035

Hiatus hernia
tree view: Abnormality of the stomach
tree view: HP_0100790
IAO_0000115: The presence of a hernia in which the upper part of the stomach, i.e., mainly the gastric cardia protrudes through the diaphragmatic esophageal hiatus.
created by: peter
creation date: 2008-02-20T11:28:00Z
has db xref: MEDDRA:10020028
has db xref: MSH:D006551
has db xref: SNOMEDCT_US:84089009
has db xref: UMLS:C3489393
has exact synonym: Hiatal hernia
has exact synonym: Stomach hernia
has OBO namespace: human_phenotype
id: HP:0002036
in subset: hposlim core
type: Class
comment: A tendency for the upper part of the stomach to herniate into the thorax because of a weakness of the esophageal hiatus, which is the hole in the diaphragm through which the esophagus passes. Hiatus hernia can be asymptomatic or can lead to acid reflux symptoms (heartburn).
subclass of: Abnormality of the stomach
subclass of: HP_0100790
notation: HP:0002036

Inflammation of the large intestine
tree view: Abnormal large intestine morphology
tree view: Gastrointestinal inflammation
IAO_0000115: Inflammation, or an inflammatory state in the large intestine.
has db xref: MSH:D015212
has db xref: SNOMEDCT_US:24526004
has db xref: SNOMEDCT_US:302168000
has db xref: UMLS:C0021390
has db xref: UMLS:C0578878
has exact synonym: Inflammation of the large intestine
has OBO namespace: human_phenotype
has related synonym: Inflammatory bowel disease
id: HP:0002037
type: Class
subclass of: Abnormal large intestine morphology
subclass of: Gastrointestinal inflammation
notation: HP:0002037

Protein avoidance
tree view: HP_0011458
has db xref: UMLS:C1839531
has OBO namespace: human_phenotype
id: HP:0002038
type: Class
subclass of: HP_0011458
notation: HP:0002038

Anorexia
tree view: HP_0011458
IAO_0000115: A lack or loss of appetite for food (as a medical condition).
has db xref: MSH:D000855
has db xref: SNOMEDCT_US:79890006
has db xref: UMLS:C0003123
has exact synonym: Anorexia
has OBO namespace: human_phenotype
id: HP:0002039
type: Class
comment: Note that this term does not refer to the condition anorexia nervosa (A disorder characterized by an obsessive desire to lose weight by refusing to eat).
subclass of: HP_0011458
notation: HP:0002039

Esophageal varix
tree view: Abnormal esophagus morphology
IAO_0000115: Extreme dilation of the submucusoal veins in the lower portion of the esophagus.
has db xref: MEDDRA:10056091
has db xref: MSH:D004932
has db xref: SNOMEDCT_US:28670008
has db xref: UMLS:C0014867
has exact synonym: Enlarged vein in esophagus
has OBO namespace: human_phenotype
has related synonym: Esophageal varices
id: HP:0002040
in subset: hposlim core
type: Class
comment: Esophageal varices are most often a consequence of portal hypertension.
subclass of: Abnormal esophagus morphology
notation: HP:0002040

Intractable diarrhea
tree view: Diarrhea
has db xref: UMLS:C0743178
has OBO namespace: human_phenotype
id: HP:0002041
type: Class
subclass of: Diarrhea
notation: HP:0002041

HP_0002042
IAO_0000231: IAO_0000227
IAO_0100001: Polyphagia
type: Class
deprecated: true
notation: HP:0002042

Esophageal stricture
tree view: HP_0010450
IAO_0000115: A pathological narrowing of the esophagus that is caused by the development of a ring of scar tissue that constricts the esophageal lumen.
has db xref: MSH:D004940
has db xref: SNOMEDCT_US:63305008
has db xref: UMLS:C0014866
has exact synonym: Narrowing of esophagus due to inflammation and scar tissue
has OBO namespace: human_phenotype
id: HP:0002043
type: Class
comment: Gastroesophageal reflux is a common cause of esophageal stricture.
subclass of: HP_0010450
notation: HP:0002043

Zollinger-Ellison syndrome
tree view: HP_0007378
IAO_0000115: A condition in which there is increased production of gastrin by a gastrin-secreting tumor (usually located in the pancreas, duodenum, or abdominal lymph nodes) that stimulates the gastric mucosa to maximal activity, with consequent gastrointestinal mucosal ulceration.
has db xref: MEDDRA:10048281
has db xref: MSH:D015043
has db xref: SNOMEDCT_US:53132006
has db xref: UMLS:C0043515
has OBO namespace: human_phenotype
id: HP:0002044
in subset: hposlim core
type: Class
comment: Zollinger-Ellison syndrome may occur as a manifestation of multiple endocrine neoplasia type 1.
subclass of: HP_0007378
notation: HP:0002044

Hypothermia
tree view: Abnormality of temperature regulation
IAO_0000115: Reduced body temperature due to failed thermoregulation.
has db xref: MSH:D007035
has db xref: SNOMEDCT_US:386689009
has db xref: UMLS:C0020672
has exact synonym: Abnormally low body temperature
has exact synonym: Hypothermia
has OBO namespace: human_phenotype
id: HP:0002045
type: Class
comment: A condition in which core temperature drops below that required for normal metabolism and body functions which is defined as 35.0 degrees C (95.0 degrees F).
subclass of: Abnormality of temperature regulation
notation: HP:0002045

Heat intolerance
tree view: Abnormality of temperature regulation
IAO_0000115: The inability to maintain a comfortably body temperature in warm or hot weather.
has db xref: SNOMEDCT_US:69215007
has db xref: UMLS:C0231274
has exact synonym: Heat intolerance
has exact synonym: Intolerance to heat and fevers
has OBO namespace: human_phenotype
id: HP:0002046
in subset: hposlim core
type: Class
comment: Heat intolerance tends to produce a feeling of being overheated and profuse diaphoresis (sweating). Many, but not all, cases of heat intolerance are related to thyrotoxicosis.
subclass of: Abnormality of temperature regulation
notation: HP:0002046

Malignant hyperthermia
tree view: Abnormality of temperature regulation
IAO_0000115: Malignant hyperthermia is characterized by a rapid increase in temperature to 39-42 degrees C in response to inhalational anesthetics such as halothane or to muscle relaxants such as succinylcholine.
has alternative id: HP:0004896
has db xref: MSH:D008305
has db xref: SNOMEDCT_US:213026003
has db xref: SNOMEDCT_US:405501007
has db xref: UMLS:C0024591
has exact synonym: Malignant hyperthermia with anesthesia
has OBO namespace: human_phenotype
id: HP:0002047
type: Class
subclass of: Abnormality of temperature regulation
notation: HP:0002047

Renal cortical atrophy
tree view: HP_0011035
tree view: HP_0012585
IAO_0000115: Atrophy of the cortex of the kidney.
has db xref: UMLS:C4025730
has OBO namespace: human_phenotype
id: HP:0002048
type: Class
subclass of: HP_0011035
subclass of: HP_0012585
notation: HP:0002048

Proximal renal tubular acidosis
tree view: Renal tubular acidosis
IAO_0000115: A type of renal tubular acidosis characterized by a failure of the proximal tubular cells to reabsorb bicarbonate, leading to urinary bicarbonate wasting and subsequent acidemia.
has db xref: MSH:D000141
has db xref: SNOMEDCT_US:24790002
has db xref: UMLS:C0268435
has exact synonym: Proximal tubular acidosis
has exact synonym: Renal tubular acidosis, proximal
has exact synonym: Renal tubular acidosis, type II
has OBO namespace: human_phenotype
id: HP:0002049
type: Class
subclass of: Renal tubular acidosis
notation: HP:0002049

Macroorchidism, postpubertal
tree view: Macroorchidism
has db xref: UMLS:C1839782
has OBO namespace: human_phenotype
id: HP:0002050
type: Class
subclass of: Macroorchidism
notation: HP:0002050

HP_0002051
IAO_0000231: IAO_0000227
IAO_0100001: Mandibular prognathia
type: Class
deprecated: true
notation: HP:0002051

HP_0002052
IAO_0000231: IAO_0000227
IAO_0100001: Wide mouth
type: Class
deprecated: true
notation: HP:0002052

HP_0002053
IAO_0000231: IAO_0000227
IAO_0100001: Retrognathia
type: Class
deprecated: true
notation: HP:0002053

Heavy supraorbital ridges
tree view: Prominent supraorbital ridges
has db xref: UMLS:C1845107
has exact synonym: Heavy brow of the face
has exact synonym: Heavy supraorbital ridge
has OBO namespace: human_phenotype
id: HP:0002054
type: Class
subclass of: Prominent supraorbital ridges
notation: HP:0002054

Curved linear dimple below the lower lip
tree view: Abnormality of lower lip
has db xref: UMLS:C1844572
has OBO namespace: human_phenotype
id: HP:0002055
type: Class
subclass of: Abnormality of lower lip
notation: HP:0002055

Abnormality of the glabella
tree view: Abnormality of the forehead
IAO_0000115: An abnormality of the glabella.
has db xref: UMLS:C4021763
has exact synonym: Abnormality of the area between the eyebrows
has exact synonym: Glabellar abnormality
has narrow synonym: Deformity of the area between the eyebrows
has narrow synonym: Malformation of the area between the eyebrows
has OBO namespace: human_phenotype
id: HP:0002056
type: Class
subclass of: Abnormality of the forehead
notation: HP:0002056

Prominent glabella
tree view: Abnormality of the glabella
IAO_0000115: Forward protrusion of the glabella.
has db xref: UMLS:C1860247
has exact synonym: Convex glabella
has exact synonym: Hyperplasia of glabella
has exact synonym: Prominent area between the eyebrows
has exact synonym: Protruding area between the eyebrows
has OBO namespace: human_phenotype
id: HP:0002057
in subset: hposlim core
type: Class
comment: The glabella is the area of the forehead in the midline between the supraorbital ridges, just above the nasal root.
subclass of: Abnormality of the glabella
notation: HP:0002057

Myopathic facies
tree view: Decreased facial expression
IAO_0000115: A facial appearance characteristic of myopathic conditions. The face appears expressionless with sunken cheeks, bilateral ptosis, and inability to elevate the corners of the mouth, due to muscle weakness.
has alternative id: HP:0004647
has db xref: SNOMEDCT_US:26432009
has db xref: UMLS:C0332615
has exact synonym: Myopathic face
has exact synonym: Myopathic facial appearance
has OBO namespace: human_phenotype
id: HP:0002058
type: Class
subclass of: Decreased facial expression
notation: HP:0002058

Cerebral atrophy
tree view: HP_0007369
IAO_0000115: Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum.
has alternative id: HP:0002422
has alternative id: HP:0006890
has db xref: SNOMEDCT_US:278849000
has db xref: SNOMEDCT_US:418143002
has db xref: SNOMEDCT_US:52522001
has db xref: UMLS:C0154671
has db xref: UMLS:C0235946
has db xref: UMLS:C4020860
has exact synonym: Degeneration of cerebrum
has OBO namespace: human_phenotype
has related synonym: Supratentorial atrophy
id: HP:0002059
type: Class
comment: Atrophy may be progressive over time.
subclass of: HP_0007369
notation: HP:0002059

Abnormality of the cerebrum
tree view: HP_0100547
IAO_0000115: An abnormality of the telencephalon, which is also known as the cerebrum.
has db xref: UMLS:C4021762
has exact synonym: Abnormality of the telencephalon
has OBO namespace: human_phenotype
id: HP:0002060
type: Class
subclass of: HP_0100547
notation: HP:0002060

Lower limb spasticity
tree view: Spasticity
IAO_0000115: Spasticity (velocity-dependent increase in tonic stretch reflexes with increased muscle tone and hyperexcitable tendon reflexes) in the muscles of the lower limbs, hips, and pelvis
has db xref: SNOMEDCT_US:394679006
has db xref: UMLS:C1271100
has OBO namespace: human_phenotype
id: HP:0002061
type: Class
subclass of: Spasticity
notation: HP:0002061

Morphological abnormality of the pyramidal tract
tree view: Morphological abnormality of the central nervous system
IAO_0000115: Any structural abnormality of the pyramidal tract, whose chief element, the corticospinal tract, is the only direct connection between the brain and the spinal cord. In addition to the corticospinal tract, the pyramidal system includes the corticobulbar, corticomesencephalic, and corticopontine tracts.
has alternative id: HP:0012445
has db xref: UMLS:C4020859
has db xref: UMLS:C4021761
has exact synonym: Abnormality of the pyramidal tracts
has OBO namespace: human_phenotype
has related synonym: Pyramidal tract disease
id: HP:0002062
type: Class
comment: The pyramidal tracts comprise both the corticospinal and corticobulbar tracts.
subclass of: Morphological abnormality of the central nervous system
notation: HP:0002062

Rigidity
tree view: HP_0011442
IAO_0000115: Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity.
has db xref: MSH:D009127
has db xref: SNOMEDCT_US:16046003
has db xref: UMLS:C0026837
has exact synonym: Muscle rigidity
has exact synonym: Rigidity
has OBO namespace: human_phenotype
id: HP:0002063
type: Class
comment: Rigidity is often a manifestation of basal ganglia diseases.
subclass of: HP_0011442
notation: HP:0002063

Spastic gait
tree view: Spasticity
tree view: Gait disturbance
IAO_0000115: Spasticity is manifested by increased stretch reflex which is intensified with movement velocity. This results in excessive and inappropriate muscle activation which can contribute to muscle hypertonia. Spastic gait is characterized by manifestations such as muscle hypertonia, stiff knee, and circumduction of the leg.
has db xref: MSH:D020233
has db xref: SNOMEDCT_US:9447003
has db xref: UMLS:C0231687
has exact synonym: Spastic walk
has OBO namespace: human_phenotype
id: HP:0002064
type: Class
subclass of: Spasticity
subclass of: Gait disturbance
notation: HP:0002064

HP_0002065
IAO_0000231: IAO_0000227
IAO_0100001: HP_0007340
type: Class
deprecated: true
notation: HP:0002065

Gait ataxia
tree view: Ataxia
tree view: Gait disturbance
IAO_0000115: A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall.
has alternative id: HP:0002379
has db xref: MSH:D020234
has db xref: SNOMEDCT_US:25136009
has db xref: UMLS:C0751837
has exact synonym: Ataxia of gait
has exact synonym: Ataxic gait
has exact synonym: Inability to coordinate movements when walking
has OBO namespace: human_phenotype
id: HP:0002066
type: Class
subclass of: Ataxia
subclass of: Gait disturbance
notation: HP:0002066

Bradykinesia
tree view: Abnormality of extrapyramidal motor function
IAO_0000115: Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement).
has db xref: MSH:D018476
has db xref: SNOMEDCT_US:399317006
has db xref: UMLS:C0233565
has exact synonym: Slow movements
has exact synonym: Slowness of movements
has OBO namespace: human_phenotype
id: HP:0002067
type: Class
subclass of: Abnormality of extrapyramidal motor function
notation: HP:0002067

Neuromuscular dysphagia
tree view: Dysphagia
has db xref: UMLS:C4025729
has OBO namespace: human_phenotype
id: HP:0002068
type: Class
subclass of: Dysphagia
notation: HP:0002068

Generalized tonic-clonic seizures
tree view: Generalized-onset seizure
IAO_0000115: Generalized tonic-clonic seizures are generalized seizures with bilateral symmetrical tonic contraction then bilateral clonic contractions of somatic muscles usually associated with autonomic phenomena.
has alternative id: HP:0001306
has alternative id: HP:0002407
has alternative id: HP:0007252
has db xref: MSH:D012640
has db xref: SNOMEDCT_US:54200006
has db xref: UMLS:C0494475
has exact synonym: Generalised tonic-clonic seizures
has exact synonym: Generalized clonic-tonic seizures
has exact synonym: Generalized tonic clonic seizures
has exact synonym: Grand mal seizures
has exact synonym: Seizures, generalized tonic-clonic
has exact synonym: Seizures, generalized, tonic-clonic
has exact synonym: Seizures, tonic-clonic
has exact synonym: Tonic-clonic convulsion
has exact synonym: Tonic-clonic convulsions
has OBO namespace: human_phenotype
id: HP:0002069
type: Class
comment: In a generalized tonic-clonic seizure, the patient suddenly loses conciousness, the eyes roll back, and the entire body musculature undergoes tonic contractions. In the clonic phase of the seizure, there are rhythmic contractions of the musculature alternating with relaxation of all muscle groups. Loss of sphincter control during the seizure is common. This form of seizure was formerly commonly called grand mal seizure.
subclass of: Generalized-onset seizure
notation: HP:0002069

Limb ataxia
tree view: Ataxia
IAO_0000115: A kind of ataxia that affects movements of the extremities.
has db xref: MSH:D001259
has db xref: UMLS:C0750937
has exact synonym: Appendicular ataxia
has OBO namespace: human_phenotype
id: HP:0002070
type: Class
comment: Limb ataxia is generally caused by lesions of the cerebellar hemispheres and associated pathways.
subclass of: Ataxia
notation: HP:0002070

Abnormality of extrapyramidal motor function
tree view: HP_0011442
IAO_0000115: A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless).
has alternative id: HP:0006810
has alternative id: HP:0007113
has db xref: MSH:D001480
has db xref: SNOMEDCT_US:43378000
has db xref: SNOMEDCT_US:76349003
has db xref: UMLS:C0015371
has db xref: UMLS:C0234133
has exact synonym: Extrapyramidal dysfunction
has exact synonym: Extrapyramidal signs
has exact synonym: Extrapyramidal symptoms
has exact synonym: Extrapyramidal syndrome
has exact synonym: Extrapyramidal tract signs
has OBO namespace: human_phenotype
id: HP:0002071
type: Class
comment: The basal ganglia, paired subcortical masses of grey matter that form distinct nuclei, subserve motor functions that are distinct from those of the pyramidal (i.e., corticospinal) tract. This is a bundled term that is kept for historical reasons, but it is preferable to annotate the precise abnormalities observed.
subclass of: HP_0011442
notation: HP:0002071

Chorea
tree view: Involuntary movements
IAO_0000115: Chorea (Greek for 'dance') refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion. It is a random-appearing sequence of one or more discrete involuntary movements or movement fragments. Movements appear random because of variability in timing, duration or location. Each movement may have a distinct start and end. However, movements may be strung together and thus may appear to flow randomly from one muscle group to another. Chorea can involve the trunk, neck, face, tongue, and extremities.
has alternative id: HP:0002397
has db xref: MSH:D002819
has db xref: SNOMEDCT_US:271700006
has db xref: UMLS:C0008489
has db xref: UMLS:C4020858
has exact synonym: Choreic movements
has exact synonym: Choreiform movements
has OBO namespace: human_phenotype
has related synonym: Choreatic disease
id: HP:0002072
type: Class
subclass of: Involuntary movements
notation: HP:0002072

Progressive cerebellar ataxia
tree view: Ataxia
has alternative id: HP:0001329
has alternative id: HP:0002496
has alternative id: HP:0007331
has db xref: SNOMEDCT_US:230233000
has db xref: UMLS:C0393525
has exact synonym: Cerebellar ataxia, progressive
has exact synonym: Progressive ataxia
has OBO namespace: human_phenotype
id: HP:0002073
type: Class
subclass of: Ataxia
notation: HP:0002073

Increased neuronal autofluorescent lipopigment
tree view: HP_0011813
IAO_0000115: Lipofuscin, a generic term applied to autofluorescent lipopigment, is a mixture of protein and lipid that accumulates in most aging cells, particularly those involved in high lipid turnover (e.g., the adrenal medulla) or phagocytosis of other cell types (e g., the retinal pigment epithelium or RPE; macrophage). This term pertains if there is an increase in the neuronal accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient.
has db xref: UMLS:C4020857
has db xref: UMLS:C4025728
has OBO namespace: human_phenotype
has related synonym: Neuronal lipopigments
id: HP:0002074
type: Class
subclass of: HP_0011813
notation: HP:0002074

Dysdiadochokinesis
tree view: Ataxia
IAO_0000115: A type of ataxia characterized by the impairment of the ability to perform rapidly alternating movements, such as pronating and supinating his or her hand on the dorsum of the other hand as rapidly as possible.
has alternative id: HP:0002426
has db xref: SNOMEDCT_US:23133003
has db xref: UMLS:C0234979
has exact synonym: Difficulty performing quick and alternating movements
has exact synonym: Dysdiadochokinesia
has OBO namespace: human_phenotype
id: HP:0002075
type: Class
comment: Inability to perform rapid, alternating movements. Dysdiadochokinesis is generally related to a cerebellar lesion.
subclass of: Ataxia
notation: HP:0002075

Migraine
tree view: Headache
IAO_0000115: Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms.
has alternative id: HP:0007194
has db xref: MSH:D008881
has db xref: SNOMEDCT_US:37796009
has db xref: UMLS:C0149931
has db xref: UMLS:C0744641
has exact synonym: Intermittent migraine headaches
has exact synonym: Migraine
has exact synonym: Migraine headache
has exact synonym: Migraine headaches
has OBO namespace: human_phenotype
id: HP:0002076
type: Class
subclass of: Headache
notation: HP:0002076

Migraine with aura
tree view: Migraine
IAO_0000115: A type of migraine in which there is an aura characterized by focal neurological phenomena that usually proceed, but may accompany or occur in the absence of, the headache. The symptoms of an aura may include fully reversible visual, sensory, and speech symptoms but not motor weakness. Visual symptoms may include flickering lights, spots and lines and/or loss of vision and/or unilateral sensory symptoms such as paresthesias or numbness. At least one of the symptoms of an aura develops gradually over 5 or more minutes and/or different symptoms occur in succession.
has db xref: MSH:D020325
has db xref: SNOMEDCT_US:4473006
has db xref: UMLS:C0154723
has OBO namespace: human_phenotype
id: HP:0002077
type: Class
subclass of: Migraine
notation: HP:0002077

Truncal ataxia
tree view: Ataxia
IAO_0000115: Truncal ataxia is a sign of ataxia characterized by instability of the trunk. It usually occurs during sitting.
has alternative id: HP:0007014
has db xref: MSH:D001259
has db xref: SNOMEDCT_US:250067008
has db xref: UMLS:C0427190
has exact synonym: Instability or lack of coordination of central trunk muscles
has exact synonym: Trunk ataxia
has OBO namespace: human_phenotype
id: HP:0002078
type: Class
comment: Truncal ataxia is generally caused by midline damage to the cerebellar vermis and associated pathways. Patients with truncal ataxia may not be able to sit or stand without support.
subclass of: Ataxia
notation: HP:0002078

Hypoplasia of the corpus callosum
tree view: HP_0007370
IAO_0000115: Underdevelopment of the corpus callosum.
has alternative id: HP:0002319
has alternative id: HP:0007026
has db xref: SNOMEDCT_US:204043002
has db xref: UMLS:C0344482
has exact synonym: Corpus callosum hypoplasia
has exact synonym: Hypoplasia of corpus callosum
has exact synonym: Hypoplastic corpus callosum
has exact synonym: Small corpus callosum
has exact synonym: Thin corpus callosum
has exact synonym: Thinning of the corpus callosum
has exact synonym: Underdevelopment of part of brain called corpus callosum
has OBO namespace: human_phenotype
id: HP:0002079
type: Class
comment: The corpus callosum appears thin in midline views of the brain in neuroradiological images.
subclass of: HP_0007370
notation: HP:0002079

Intention tremor
tree view: HP_0030186
IAO_0000115: A type of kinetic tremor that occurs during target directed movement is called intention tremor. That is, an oscillatory cerebellar ataxia that tends to be absent when the limbs are inactive and during the first part of voluntary movement but worsening as the movement continues and greater precision is required (e.g., in touching a target such as the patient's nose or a physician's finger).
has db xref: MSH:D014202
has db xref: SNOMEDCT_US:30721006
has db xref: UMLS:C0234376
has db xref: UMLS:C4020856
has OBO namespace: human_phenotype
has related synonym: Cerebellar tremor
has related synonym: Terminal tremor
id: HP:0002080
type: Class
subclass of: HP_0030186
notation: HP:0002080

HP_0002081
IAO_0000231: IAO_0000227
IAO_0100001: Memory impairment
type: Class
deprecated: true
notation: HP:0002081

HP_0002082
IAO_0000231: IAO_0000227
IAO_0100001: Paresthesia
type: Class
deprecated: true
notation: HP:0002082

Migraine without aura
tree view: Migraine
IAO_0000115: Repeated headache attacks lasting 4-72 h fulfilling at least two of the following criteria: 1) unilateral location, 2) pulsating quality, 3) moderate or severe pain intensity, and 4) aggravation by or causing avoidance of routine physical activity such as climbing stairs. Headache attacks are commonly accompanied by nausea, vomiting, photophobia, or phonophobia.
has db xref: MSH:D020326
has db xref: SNOMEDCT_US:56097005
has db xref: UMLS:C0338480
has OBO namespace: human_phenotype
id: HP:0002083
type: Class
comment: The definition of this term is based on the definition in the International Classification of Headache Disorders by the International Headache Society (pmid:15304572), which additionally stipulate that such headaches must have occurred at least five times and not other secondary cause must be apparent in order to make the diagnosis.
subclass of: Migraine
notation: HP:0002083

Encephalocele
tree view: Morphological abnormality of the central nervous system
tree view: HP_0011815
IAO_0000115: A neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull.
has alternative id: HP:0002736
has alternative id: HP:0100664
has db xref: MSH:D004677
has db xref: SNOMEDCT_US:253101008
has db xref: SNOMEDCT_US:48777005
has db xref: SNOMEDCT_US:55999004
has db xref: UMLS:C0014065
has exact synonym: Bifid skull
has exact synonym: Cranium bifidum
has OBO namespace: human_phenotype
id: HP:0002084
type: Class
comment: A congenital gap in the skull that usually results in a protrusion of brain material.
subclass of: Morphological abnormality of the central nervous system
subclass of: HP_0011815
notation: HP:0002084

Occipital encephalocele
tree view: Encephalocele
IAO_0000115: A type of encephalocele (that is, a a protrusion of part of the cranial contents including brain tissue through a congenital opening in the cranium, typically covered with skin or mucous membrane) in the occipital region of the skull. Occipital encephalocele presents as a midline swelling over the occipital bone. It is usually covered with normal full-thickness scalp.
has alternative id: HP:0007051
has alternative id: HP:0007357
has db xref: MSH:D004677
has db xref: SNOMEDCT_US:42376006
has db xref: UMLS:C0014067
has exact synonym: Brain tissue sticks out through back of skull
has exact synonym: Occipital meningoencephalocele
has exact synonym: Posterior encephalocele
has OBO namespace: human_phenotype
id: HP:0002085
type: Class
subclass of: Encephalocele
notation: HP:0002085

Abnormality of the respiratory system
tree view: Phenotypic abnormality
IAO_0000115: An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles.
has db xref: UMLS:C4018871
has exact synonym: Respiratory abnormality
has OBO namespace: human_phenotype
id: HP:0002086
type: Class
subclass of: Phenotypic abnormality
notation: HP:0002086

Abnormality of the upper respiratory tract
tree view: HP_0012252
IAO_0000115: An abnormality of the upper respiratory tract.
has db xref: UMLS:C4025727
has exact synonym: Abnormality of the upper respiratory tract
has exact synonym: Upper respiratory tract issues
has OBO namespace: human_phenotype
id: HP:0002087
type: Class
subclass of: HP_0012252
notation: HP:0002087

Abnormal lung morphology
tree view: HP_0012252
IAO_0000115: Any structural anomaly of the lung.
has db xref: MSH:D008171
has db xref: SNOMEDCT_US:19829001
has db xref: UMLS:C0024115
has db xref: UMLS:C4021760
has exact synonym: Abnormality of lung morphology
has exact synonym: Abnormality of the lungs
has exact synonym: Abnormally shaped lung
has exact synonym: Unusal lung shape
has OBO namespace: human_phenotype
has related synonym: Lung disease
id: HP:0002088
type: Class
subclass of: HP_0012252
notation: HP:0002088

Pulmonary hypoplasia
tree view: HP_0006703
has db xref: SNOMEDCT_US:80825009
has db xref: UMLS:C0265783
has exact synonym: Hypoplastic lung
has exact synonym: Hypoplastic lungs
has exact synonym: Lung hypoplasia
has exact synonym: Small lung
has exact synonym: Underdeveloped lung
has OBO namespace: human_phenotype
id: HP:0002089
type: Class
subclass of: HP_0006703
notation: HP:0002089

Pneumonia
tree view: HP_0011947
tree view: HP_0012649
IAO_0000115: Inflammation of any part of the lung parenchyma.
has db xref: MSH:D011014
has db xref: SNOMEDCT_US:233604007
has db xref: UMLS:C0032285
has exact synonym: Pneumonia
has OBO namespace: human_phenotype
id: HP:0002090
type: Class
subclass of: HP_0011947
subclass of: HP_0012649
notation: HP:0002090

Restrictive ventilatory defect
tree view: Functional respiratory abnormality
IAO_0000115: A functional defect characterized by reduced total lung capacity (TLC) not associated with abnormalities of expiratory airflow or airway resistance. Restrictive lung disease may be caused by alterations in lung parenchyma or because of a disease of the pleura, chest wall, or neuromuscular apparatus.
has db xref: SNOMEDCT_US:36485005
has db xref: UMLS:C0085581
has db xref: UMLS:C3277226
has exact synonym: Stiff lung or chest wall causing decreased lung volume
has OBO namespace: human_phenotype
has related synonym: Restrictive lung disease
id: HP:0002091
type: Class
comment: The most commonly used term for this feature is restrictive lung disease, but we choose the term Restrictive ventilatory defect to emphasize that this term refers to a phenotypic feature rather than a disease entity.
subclass of: Functional respiratory abnormality
notation: HP:0002091

Pulmonary arterial hypertension
tree view: Elevated pulmonary artery pressure
IAO_0000115: Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position.
has alternative id: HP:0006546
has db xref: MSH:D006976
has db xref: MSH:D065627
has db xref: SNOMEDCT_US:11399002
has db xref: SNOMEDCT_US:697898008
has db xref: SNOMEDCT_US:70995007
has db xref: UMLS:C0020542
has db xref: UMLS:C2973725
has db xref: UMLS:C3203102
has exact synonym: Increased blood pressure in blood vessels of lungs
has exact synonym: Pulmonary artery hypertension
has OBO namespace: human_phenotype
has related synonym: Primary pulmonary hypertension
id: HP:0002092
type: Class
comment: Pulmonary hypertension can be secondary to known cardiac, pulmonary, or hepatic disease. If no cause is identifiable, the term primary pulmonary hypertension is used.
subclass of: Elevated pulmonary artery pressure
notation: HP:0002092

Respiratory insufficiency
tree view: Functional respiratory abnormality
has alternative id: HP:0004893
has alternative id: HP:0005937
has alternative id: HP:0006542
has db xref: MSH:D012131
has db xref: SNOMEDCT_US:409623005
has db xref: UMLS:C0035229
has db xref: UMLS:C4020855
has exact synonym: Respiratory impairment
has exact synonym: progressive respiratory failure
has OBO namespace: human_phenotype
has related synonym: Respiratory function loss
id: HP:0002093
type: Class
subclass of: Functional respiratory abnormality
notation: HP:0002093

Dyspnea
tree view: Functional respiratory abnormality
IAO_0000115: Difficult or labored breathing.
has db xref: MSH:D004417
has db xref: SNOMEDCT_US:230145002
has db xref: SNOMEDCT_US:267036007
has db xref: UMLS:C0013404
has exact synonym: Trouble breathing
has OBO namespace: human_phenotype
id: HP:0002094
type: Class
subclass of: Functional respiratory abnormality
notation: HP:0002094

HP_0002095
IAO_0000231: IAO_0000227
IAO_0100001: HP_0006532
type: Class
deprecated: true
notation: HP:0002095

HP_0002096
IAO_0000231: IAO_0000227
IAO_0100001: HP_0006532
type: Class
deprecated: true
notation: HP:0002096

Emphysema
tree view: Abnormal lung morphology
has alternative id: HP:0006534
has db xref: MSH:D011656
has db xref: SNOMEDCT_US:87433001
has db xref: UMLS:C0034067
has exact synonym: Pulmonary emphysema
has OBO namespace: human_phenotype
id: HP:0002097
type: Class
subclass of: Abnormal lung morphology
notation: HP:0002097

Respiratory distress
tree view: Dyspnea
IAO_0000115: Difficulty in breathing. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea.
has alternative id: HP:0002880
has db xref: MSH:D004417
has db xref: SNOMEDCT_US:230145002
has db xref: SNOMEDCT_US:267036007
has db xref: SNOMEDCT_US:271825005
has db xref: UMLS:C0013404
has db xref: UMLS:C0476273
has exact synonym: Breathing difficulties
has exact synonym: Difficulty breathing
has exact synonym: Respiratory difficulties
has OBO namespace: human_phenotype
has related synonym: Short of breath
has related synonym: Shortness of breath
id: HP:0002098
type: Class
subclass of: Dyspnea
notation: HP:0002098

Asthma
tree view: Functional respiratory abnormality
tree view: HP_0100326
IAO_0000115: Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing.
has alternative id: HP:0002112
has db xref: MSH:D001249
has db xref: SNOMEDCT_US:195967001
has db xref: SNOMEDCT_US:991000119106
has db xref: UMLS:C0004096
has db xref: UMLS:C3714497
has exact synonym: Asthma
has exact synonym: Bronchial asthma
has OBO namespace: human_phenotype
has related synonym: Reactive airway disease
id: HP:0002099
type: Class
subclass of: Functional respiratory abnormality
subclass of: HP_0100326
notation: HP:0002099

Recurrent aspiration pneumonia
tree view: HP_0011951
IAO_0000115: Increased susceptibility to aspiration pneumonia, defined as pneumonia due to breathing in foreign material, as manifested by a medical history of repeated episodes of aspiration pneumonia.
has alternative id: HP:0002106
has db xref: SNOMEDCT_US:430969000
has db xref: UMLS:C0747651
has OBO namespace: human_phenotype
id: HP:0002100
type: Class
subclass of: HP_0011951
notation: HP:0002100

Abnormal lung lobation
tree view: Abnormal lung morphology
IAO_0000115: Defects in the formation of pulmonary lobules.
has alternative id: HP:0006525
has alternative id: HP:0009753
has db xref: SNOMEDCT_US:91842005
has db xref: UMLS:C0685695
has exact synonym: Defective lung lobation
has exact synonym: Lung segmentation defects
has OBO namespace: human_phenotype
id: HP:0002101
type: Class
subclass of: Abnormal lung morphology
notation: HP:0002101

Pleuritis
tree view: Abnormality of the pleura
IAO_0000115: Inflammation of the pleura.
has db xref: MSH:D010998
has db xref: SNOMEDCT_US:196075003
has db xref: UMLS:C0032231
has exact synonym: Inflammation of tissues lining lungs and chest
has exact synonym: Pleurisy
has OBO namespace: human_phenotype
id: HP:0002102
type: Class
subclass of: Abnormality of the pleura
notation: HP:0002102

Abnormality of the pleura
tree view: Abnormal lung morphology
IAO_0000115: An abnormality of the pulmonary pleura, the thin, transparent membrane which covers the lungs and lines the inside of the chest walls.
has db xref: UMLS:C4025726
has OBO namespace: human_phenotype
id: HP:0002103
type: Class
subclass of: Abnormal lung morphology
notation: HP:0002103

Apnea
tree view: Abnormal pattern of respiration
IAO_0000115: Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event.
has alternative id: HP:0005936
has alternative id: HP:0005958
has db xref: MSH:D001049
has db xref: SNOMEDCT_US:1023001
has db xref: SNOMEDCT_US:248583008
has db xref: UMLS:C0003578
has exact synonym: Absence of spontaneous respiration
has exact synonym: Apneic episodes
has exact synonym: Apnoea
has OBO namespace: human_phenotype
id: HP:0002104
type: Class
subclass of: Abnormal pattern of respiration
notation: HP:0002104

Hemoptysis
tree view: HP_0032016
IAO_0000115: Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs.
has db xref: MSH:D006469
has db xref: SNOMEDCT_US:66857006
has db xref: SNOMEDCT_US:6686005
has db xref: UMLS:C0019079
has exact synonym: Coughing up blood
has exact synonym: Haemoptysis
has OBO namespace: human_phenotype
has related synonym: Coughing up blood or blood-stained mucus
id: HP:0002105
type: Class
subclass of: HP_0032016
notation: HP:0002105

HP_0002106
IAO_0000231: IAO_0000227
IAO_0100001: Recurrent aspiration pneumonia
type: Class
deprecated: true
notation: HP:0002106

Pneumothorax
tree view: Abnormal lung morphology
IAO_0000115: Accumulation of air in the pleural cavity leading to a partially or completely collapsed lung.
has db xref: MSH:D011030
has db xref: SNOMEDCT_US:36118008
has db xref: UMLS:C0032326
has exact synonym: Collapsed lung
has OBO namespace: human_phenotype
id: HP:0002107
type: Class
subclass of: Abnormal lung morphology
notation: HP:0002107

Spontaneous pneumothorax
tree view: Pneumothorax
IAO_0000115: Pneumothorax occurring without traumatic injury to the chest or lung.
has db xref: MSH:D011030
has db xref: SNOMEDCT_US:80423007
has db xref: UMLS:C0149781
has exact synonym: Spontaneous collapsed lung
has OBO namespace: human_phenotype
id: HP:0002108
type: Class
subclass of: Pneumothorax
notation: HP:0002108

obsolete Abnormality of the bronchi
IAO_0000231: IAO_0000227
IAO_0100001: HP_0025426
IAO_0100001: HP:0025426
has OBO namespace: human_phenotype
id: HP:0002109
type: Class
deprecated: true
notation: HP:0002109

Bronchiectasis
tree view: HP_0025426
IAO_0000115: Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways.
has db xref: MSH:D001987
has db xref: SNOMEDCT_US:12295008
has db xref: UMLS:C0006267
has exact synonym: Permanent enlargement of the airways of the lungs
has OBO namespace: human_phenotype
id: HP:0002110
type: Class
subclass of: HP_0025426
notation: HP:0002110

Restrictive deficit on pulmonary function testing
tree view: Restrictive ventilatory defect
tree view: Respiratory insufficiency
tree view: HP_0032340
IAO_0000115: FEV1 (forced expiratory volume in 1 second) and FVC (forced vital capacity) less than 80 per cent.
has db xref: UMLS:C1609528
has exact synonym: Restrictive deficit on pulmonary function tests
has exact synonym: Restrictive respiratory disease
has exact synonym: Restrictive respiratory insufficiency'
has exact synonym: Restrictive respiratory syndrome
has OBO namespace: human_phenotype
id: HP:0002111
type: Class
subclass of: Restrictive ventilatory defect
subclass of: Respiratory insufficiency
subclass of: HP_0032340
notation: HP:0002111

HP_0002112
IAO_0000231: IAO_0000227
IAO_0100001: Asthma
type: Class
deprecated: true
notation: HP:0002112

Pulmonary infiltrates
tree view: Abnormal lung morphology
has db xref: UMLS:C0235896
has exact synonym: Lung infiltrates
has exact synonym: Pulmonic infiltration
has OBO namespace: human_phenotype
id: HP:0002113
type: Class
subclass of: Abnormal lung morphology
notation: HP:0002113

HP_0002114
IAO_0000231: IAO_0000227
IAO_0100001: HP_0006548
type: Class
deprecated: true
notation: HP:0002114

HP_0002115
IAO_0000231: IAO_0000227
IAO_0100001: HP_0011362
type: Class
deprecated: true
notation: HP:0002115

HP_0002116
IAO_0000231: IAO_0000227
IAO_0100001: Delayed speech and language development
type: Class
deprecated: true
notation: HP:0002116

HP_0002117
IAO_0000231: IAO_0000227
IAO_0100001: Delayed speech and language development
type: Class
deprecated: true
notation: HP:0002117

Abnormality of the cerebral ventricles
tree view: HP_0012443
IAO_0000115: Abnormality of the cerebral ventricles.
has db xref: UMLS:C4025724
has OBO namespace: human_phenotype
id: HP:0002118
type: Class
subclass of: HP_0012443
notation: HP:0002118

Ventriculomegaly
tree view: Abnormality of the cerebral ventricles
IAO_0000115: An increase in size of the ventricular system of the brain.
has alternative id: HP:0002447
has alternative id: HP:0005691
has alternative id: HP:0007071
has db xref: UMLS:C3278923
has exact synonym: Cerebral ventricular dilatation
has exact synonym: Dilated cerebral ventricle
has exact synonym: Dilated cerebral ventricles
has exact synonym: Dilated ventricles
has exact synonym: Enlarged cerebral ventricles
has exact synonym: Enlarged ventricles
has exact synonym: Enlarged ventricular system
has exact synonym: Large cerebral ventricles and cisternae
has exact synonym: Ventricular dilatation
has OBO namespace: human_phenotype
id: HP:0002119
type: Class
subclass of: Abnormality of the cerebral ventricles
notation: HP:0002119

Cerebral cortical atrophy
tree view: Cerebral atrophy
IAO_0000115: Atrophy of the cortex of the cerebrum.
has alternative id: HP:0006823
has alternative id: HP:0006835
has db xref: SNOMEDCT_US:278849000
has db xref: UMLS:C0235946
has exact synonym: Cerebral cortex atrophy
has exact synonym: Cortical atrophy
has exact synonym: Decrease in size of the outer layer of the brain due to loss of brain cells
has OBO namespace: human_phenotype
id: HP:0002120
type: Class
comment: Cortical atrophy is a finding that can be demonstrated by computer tomography or magnetic resonance imaging.
subclass of: Cerebral atrophy
notation: HP:0002120

Absence seizure
tree view: Generalized-onset seizure
IAO_0000115: Absence seizures present with a sudden cessation of activity and awareness. Absence seizures tend to occur in younger age groups, have more sudden start and termination, and they usually display less complex automatisms than do focal seizures with impaired awareness, but the distinctions are not absolute.
has alternative id: HP:0007143
has alternative id: HP:0011148
has db xref: MSH:D004832
has db xref: SNOMEDCT_US:230413002
has db xref: SNOMEDCT_US:432241000124101
has db xref: SNOMEDCT_US:50866000
has db xref: SNOMEDCT_US:79631006
has db xref: UMLS:C0014553
has exact synonym: Absence seizures
has exact synonym: Brief seizures with staring spells
has exact synonym: Petit mal seizure
has exact synonym: Petit mal seizures
has OBO namespace: human_phenotype
id: HP:0002121
type: Class
subclass of: Generalized-onset seizure
notation: HP:0002121

HP_0002122
IAO_0000231: IAO_0000227
IAO_0100001: Intellectual disability
type: Class
deprecated: true
notation: HP:0002122

Generalized myoclonic seizures
tree view: Generalized-onset seizure
IAO_0000115: Seizures with sudden, brief (< 100 msec) involuntary single or multiple contraction(s) of muscles(s) or muscle groups of variable topography (axial, proximal limb, distal).
has alternative id: HP:0006869
has alternative id: HP:0006902
has alternative id: HP:0007075
has alternative id: HP:0007202
has alternative id: HP:0007284
has alternative id: HP:0007294
has broad synonym: Myoclonic seizures
has db xref: MSH:D004831
has db xref: MSH:D020191
has db xref: SNOMEDCT_US:192992007
has db xref: SNOMEDCT_US:267581004
has db xref: SNOMEDCT_US:37356005
has db xref: UMLS:C0014550
has db xref: UMLS:C0751778
has db xref: UMLS:C4021759
has exact synonym: Myoclonus seizures
has OBO namespace: human_phenotype
has related synonym: Myoclonic epilepsy, progressive
id: HP:0002123
type: Class
subclass of: Generalized-onset seizure
notation: HP:0002123

HP_0002124
IAO_0000231: IAO_0000227
IAO_0100001: HP_0010819
type: Class
deprecated: true
notation: HP:0002124

HP_0002125
IAO_0000231: IAO_0000227
IAO_0100001: Seizures
type: Class
deprecated: true
notation: HP:0002125

Polymicrogyria
tree view: Abnormal cortical gyration
IAO_0000115: Polymicrogyria is a congenital malformation of the cerebral cortex characterized by abnormal cortical layering (lamination) and an excessive number of small gyri (folds).
has db xref: MSH:D065706
has db xref: SNOMEDCT_US:4945003
has db xref: UMLS:C0266464
has exact synonym: More grooves in brain
has OBO namespace: human_phenotype
id: HP:0002126
type: Class
comment: Polymicrogyria, one of the most common malformations of cortical development, is characterized histologically by the appearance of an excessive number of small cortical folds, often fused together, with disordered cortical lamination.
subclass of: Abnormal cortical gyration
notation: HP:0002126

Abnormal upper motor neuron morphology
tree view: Abnormal motor neuron morphology
IAO_0000115: Any structural anomaly that affects the upper motor neuron.
has db xref: UMLS:C4025723
has exact synonym: Abnormal shape of upper motor neuron
has OBO namespace: human_phenotype
id: HP:0002127
type: Class
comment: previous def: 'has part' some (quality and ('inheres in' some 'Upper motor neuron (adult human)') and ('has modifier' some abnormal))
subclass of: Abnormal motor neuron morphology
notation: HP:0002127

HP_0002128
IAO_0000231: IAO_0000227
IAO_0100001: HP_0100543
type: Class
deprecated: true
notation: HP:0002128

HP_0002129
IAO_0000231: IAO_0000227
IAO_0100001: HP_0100543
type: Class
deprecated: true
notation: HP:0002129

HP_0002130
IAO_0000231: IAO_0000227
IAO_0100001: Motor delay
type: Class
deprecated: true
notation: HP:0002130

Episodic ataxia
tree view: Ataxia
IAO_0000115: Periodic spells of incoordination and imbalance, that is, episodes of ataxia typically lasting from 10 minutes to several hours or days.
has alternative id: HP:0006862
has alternative id: HP:0007152
has alternative id: HP:0007214
has db xref: MSH:C580065
has db xref: SNOMEDCT_US:421455009
has db xref: UMLS:C1720189
has exact synonym: Intermittent cerebellar ataxia
has exact synonym: Paroxysmal ataxia
has OBO namespace: human_phenotype
id: HP:0002131
type: Class
subclass of: Ataxia
notation: HP:0002131

Porencephalic cyst
tree view: Abnormality of the cerebrum
IAO_0000115: A cavity within the cerebral hemisphere, filled with cerebrospinal fluid, that communicates directly with the ventricular system.
has db xref: MSH:D065708
has db xref: UMLS:C4082173
has exact synonym: Cavity within brain
has OBO namespace: human_phenotype
id: HP:0002132
type: Class
comment: Porencephaly is usually the result of damage from stroke or infection after birth, but may also be the result of a developmental defect. Porencephaly is often associated with various ophthalmic and neurologic signs, including visual-field defects, abnormal pupillary responses, optic nerve hypoplasia, decreased vision, nystagmus, strabismus, hemi-inattention, seizures, and mental deficiencies.
subclass of: Abnormality of the cerebrum
notation: HP:0002132

Status epilepticus
tree view: Seizures
IAO_0000115: Seizures lasting for more than 30 minutes or longer or multiple seizures repeated frequently without regaining consciousness between seizures.
has db xref: MSH:D013226
has db xref: SNOMEDCT_US:230456007
has db xref: UMLS:C0038220
has exact synonym: Repeated seizures without recovery between them
has OBO namespace: human_phenotype
id: HP:0002133
type: Class
subclass of: Seizures
notation: HP:0002133

Abnormality of the basal ganglia
tree view: HP_0010993
IAO_0000115: Abnormality of the basal ganglia.
has alternative id: HP:0006952
has alternative id: HP:0007257
has db xref: MSH:D001480
has db xref: SNOMEDCT_US:70835005
has db xref: UMLS:C0004782
has exact synonym: Anomaly of the basal ganglia
has exact synonym: Basal ganglia disease
has OBO namespace: human_phenotype
id: HP:0002134
type: Class
comment: The basal ganglia are a group of nuclei (striatum, pallidum substantia nigra, and the subthalamic nucleus) at the base of the forebrain that are connected to the cerebral cortex, the thalamus, and other areas. The basal ganglia subserve motor functions that are distinct from those of the pyramidal (corticospinal) tract, for which reason neurologic abnormalities caused by lesions to the basal ganglia are often referred to as extrapyramidal.
subclass of: HP_0010993
notation: HP:0002134

Basal ganglia calcification
tree view: Abnormality of the basal ganglia
tree view: Cerebral calcification
IAO_0000115: The presence of calcium deposition affecting one or more structures of the basal ganglia.
has alternative id: HP:0002485
has db xref: UMLS:C1389280
has exact synonym: Basal ganglia calcifications
has exact synonym: Basal ganglion calcification
has exact synonym: Calcification of the basal ganglia
has OBO namespace: human_phenotype
id: HP:0002135
type: Class
subclass of: Abnormality of the basal ganglia
subclass of: Cerebral calcification
notation: HP:0002135

Broad-based gait
tree view: Gait disturbance
IAO_0000115: An abnormal gait pattern in which persons stand and walk with their feet spaced widely apart. This is often a component of cerebellar ataxia.
has db xref: UMLS:C0856863
has exact synonym: Broad based gait
has exact synonym: Wide based gait
has exact synonym: Wide based walk
has exact synonym: Wide-based gait
has OBO namespace: human_phenotype
id: HP:0002136
type: Class
subclass of: Gait disturbance
notation: HP:0002136

HP_0002137
IAO_0000231: IAO_0000227
IAO_0100001: Cerebral hemorrhage
type: Class
deprecated: true
notation: HP:0002137

Subarachnoid hemorrhage
tree view: Intracranial hemorrhage
tree view: HP_0012703
IAO_0000115: Hemorrhage occurring between the arachnoid mater and the pia mater.
has db xref: MSH:D013345
has db xref: SNOMEDCT_US:21454007
has db xref: UMLS:C0038525
has exact synonym: Subarachnoid haemorrhage
has OBO namespace: human_phenotype
id: HP:0002138
type: Class
comment: Bleeding into the subarachnoid space the area between the arachnoid membrane and the pia mater surrounding the brain. Subarachnoid hemorrhage may occur spontaneously, usually from a ruptured cerebral aneurysm, or may result from head injury.
subclass of: Intracranial hemorrhage
subclass of: HP_0012703
notation: HP:0002138

Arrhinencephaly
tree view: Anencephaly
has db xref: MSH:D016142
has db xref: UMLS:C0078982
has OBO namespace: human_phenotype
id: HP:0002139
type: Class
subclass of: Anencephaly
notation: HP:0002139

Ischemic stroke
tree view: Stroke
tree view: Cerebral ischemia
has db xref: SNOMEDCT_US:422504002
has db xref: UMLS:C0948008
has OBO namespace: human_phenotype
id: HP:0002140
type: Class
subclass of: Stroke
subclass of: Cerebral ischemia
notation: HP:0002140

Gait imbalance
tree view: Gait disturbance
has alternative id: HP:0100683
has db xref: UMLS:C1836150
has exact synonym: Abnormality of balance
has exact synonym: Abnormality of equilibrium
has exact synonym: Imbalanced walk
has OBO namespace: human_phenotype
id: HP:0002141
type: Class
subclass of: Gait disturbance
notation: HP:0002141

HP_0002142
IAO_0000231: IAO_0000227
IAO_0100001: HP_0007240
type: Class
deprecated: true
notation: HP:0002142

Abnormality of the spinal cord
tree view: Morphological abnormality of the central nervous system
IAO_0000115: An abnormality of the spinal cord (myelon).
has db xref: MSH:D013118
has db xref: SNOMEDCT_US:48522003
has db xref: UMLS:C0037928
has db xref: UMLS:C4025722
has exact synonym: Abnormality of the spinal cord
has OBO namespace: human_phenotype
has related synonym: Spinal cord disease
has related synonym: Spinal cord pathology
id: HP:0002143
type: Class
subclass of: Morphological abnormality of the central nervous system
notation: HP:0002143

Tethered cord
tree view: HP_0031938
IAO_0000115: During normal embryological development, the spinal cord first occupies the entire length of the vertebral column but goes on to assume a position at the level of L1 due to differential growth of the conus medullaris and the vertebral column. The filum terminale is a slender, threadlike structure that remains after the normal regression of the distal embryonic spinal cord and attaches the spinal cord to the coccyx. A tethered cord results if there is a thickened rope-like filum terminale which anchors the cord at the level of L2 or below, potentially causing neurologic signs owing to abnormal tension on the spinal cord.
has db xref: MSH:D009436
has db xref: SNOMEDCT_US:70534000
has db xref: UMLS:C0080218
has exact synonym: Occult spinal dysraphism
has OBO namespace: human_phenotype
id: HP:0002144
type: Class
subclass of: HP_0031938
notation: HP:0002144

Frontotemporal dementia
tree view: Dementia
IAO_0000115: A dementia associated with degeneration of the frontotemporal lobe and clinically associated with personality and behavioral changes such as disinhibition, apathy, and lack of insight. The hallmark feature of frontotemporal dementia is the presentation with focal syndromes such as progressive language dysfunction, or aphasia, or behavioral changes characteristic of frontal lobe disorders.
has db xref: MSH:D057180
has db xref: SNOMEDCT_US:230270009
has db xref: UMLS:C0338451
has OBO namespace: human_phenotype
id: HP:0002145
type: Class
subclass of: Dementia
notation: HP:0002145

HP_0002146
IAO_0000231: IAO_0000227
IAO_0100001: Abnormality of metabolism/homeostasis
type: Class
deprecated: true
notation: HP:0002146

HP_0002147
IAO_0000231: IAO_0000227
IAO_0100001: Elevated serum creatine kinase
type: Class
deprecated: true
notation: HP:0002147

Hypophosphatemia
tree view: HP_0100529
IAO_0000115: An abnormally decreased phosphate concentration in the blood.
has db xref: MSH:D017674
has db xref: SNOMEDCT_US:4996001
has db xref: UMLS:C0085682
has exact synonym: Hypophosphataemia
has exact synonym: Low blood phosphate level
has OBO namespace: human_phenotype
id: HP:0002148
type: Class
subclass of: HP_0100529
notation: HP:0002148

Hyperuricemia
tree view: Azotemia
tree view: Increased purine level
IAO_0000115: An abnormally high level of uric acid in the blood.
has db xref: MSH:D033461
has db xref: SNOMEDCT_US:35885006
has db xref: UMLS:C0740394
has exact synonym: High blood uric acid level
has exact synonym: Hyperuricaemia
has OBO namespace: human_phenotype
id: HP:0002149
type: Class
subclass of: Azotemia
subclass of: Increased purine level
notation: HP:0002149

Hypercalciuria
tree view: HP_0011280
has db xref: MSH:D053565
has db xref: SNOMEDCT_US:71938000
has db xref: UMLS:C0020438
has exact synonym: Elevated urine calcium levels
has exact synonym: Hypercalcinuria
has OBO namespace: human_phenotype
id: HP:0002150
type: Class
subclass of: HP_0011280
notation: HP:0002150

Increased serum lactate
tree view: Acidosis
IAO_0000115: Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism. The terms lactate and lactic acid are often used interchangeably but lactate (the component measured in blood) is strictly a weak base whereas lactic acid is the corresponding acid. Lactic acidosis is often used clinically to describe elevated lactate but should be reserved for cases where there is a corresponding acidosis (pH below 7.35).
has alternative id: HP:0003638
has broad synonym: Higher than normal levels of lactate in blood
has db xref: UMLS:C1836440
has exact synonym: Increased blood lactate
has OBO namespace: human_phenotype
id: HP:0002151
type: Class
subclass of: Acidosis
notation: HP:0002151

Hyperproteinemia
tree view: HP_0010876
IAO_0000115: An increased concentration of proteins in the blood.
has db xref: SNOMEDCT_US:37064009
has db xref: UMLS:C0267988
has OBO namespace: human_phenotype
id: HP:0002152
type: Class
subclass of: HP_0010876
notation: HP:0002152

Hyperkalemia
tree view: HP_0011042
IAO_0000115: An abnormally increased potassium concentration in the blood.
has db xref: MSH:D006947
has db xref: SNOMEDCT_US:14140009
has db xref: SNOMEDCT_US:166689004
has db xref: SNOMEDCT_US:238142003
has db xref: UMLS:C0020461
has exact synonym: Elevated serum potassium levels
has OBO namespace: human_phenotype
id: HP:0002153
type: Class
subclass of: HP_0011042
notation: HP:0002153

Hyperglycinemia
tree view: HP_0010895
IAO_0000115: An elevated concentration of glycine in the blood.
has db xref: SNOMEDCT_US:64654004
has db xref: UMLS:C0268559
has exact synonym: Elevated blood glycine levels
has exact synonym: Hyperglycinaemia
has OBO namespace: human_phenotype
id: HP:0002154
type: Class
comment: Normal blood glycine levels are around 200-250 micromole per liter.
subclass of: HP_0010895
notation: HP:0002154

Hypertriglyceridemia
tree view: Hyperlipidemia
IAO_0000115: An abnormal increase in the level of triglycerides in the blood.
has alternative id: HP:0003082
has alternative id: HP:0008174
has alternative id: HP:0008332
has db xref: UMLS:C1522137
has exact synonym: Increased circulating Tg levels
has exact synonym: Increased plasma Tg levels
has exact synonym: Increased plasma triglycerides
has exact synonym: Increased serum triglycerides
has exact synonym: Increased triglycerides
has OBO namespace: human_phenotype
id: HP:0002155
type: Class
subclass of: Hyperlipidemia
notation: HP:0002155

Homocystinuria
tree view: Aminoaciduria
IAO_0000115: An increased concentration of homocystine in the urine.
has db xref: MSH:D006712
has db xref: SNOMEDCT_US:11282001
has db xref: UMLS:C0019880
has exact synonym: High urine homocystine levels
has OBO namespace: human_phenotype
id: HP:0002156
type: Class
comment: Homocystine is a disulfide derivate of homocysteine (a precursor of cysteine). Patients with homocystinuria have a clinical phenotype similar to that of patients affected by Marfan syndrome (pectus excavatum, dislocated lenses, etc). This term does not describe the disease entity, but rather the finding of an increased concentration of homocystine in urine, which can be easily detected by a sensitive test for disulphide compounds (the cyanide-nitroprusside reaction) and using chromatographic techniques. Homocystinuria can be caused by biochemical defects including cystathionine B-synthase deficiency, N5-methyltetrahydrofolate:homocystine methyltransferase deficiency, N5,10-methylentetrahydrofolate reductase deficiency, and methhylcobalamin deficiency.
subclass of: Aminoaciduria
notation: HP:0002156

Azotemia
tree view: Abnormal circulating nitrogen compound concentration
IAO_0000115: An increased concentration of nitrogen compounds in the blood.
has db xref: MSH:D053099
has db xref: SNOMEDCT_US:445009001
has db xref: UMLS:C0242528
has exact synonym: Azotaemia
has OBO namespace: human_phenotype
id: HP:0002157
type: Class
comment: Abnormal levels of nitrogen-containing compounds, such as urea and creatinine.
subclass of: Abnormal circulating nitrogen compound concentration
notation: HP:0002157

HP_0002158
IAO_0000231: IAO_0000227
IAO_0100001: Hyperlysinuria
type: Class
deprecated: true
notation: HP:0002158

Heparan sulfate excretion in urine
tree view: HP_0008155
IAO_0000115: An increased concentration of heparan sulfates in the urine.
has db xref: UMLS:C1854827
has OBO namespace: human_phenotype
id: HP:0002159
type: Class
subclass of: HP_0008155
notation: HP:0002159

Hyperhomocystinemia
tree view: HP_0010919
IAO_0000115: An increased concentration of homocystine in the blood.
has db xref: UMLS:C3806347
has exact synonym: Elevated blood homocystine
has exact synonym: Homocystinemia
has OBO namespace: human_phenotype
id: HP:0002160
type: Class
comment: Homocystine is a disulfide derivative of homocysteine (a precursor of cysteine). Hyperhomocystinemic patients show blood homocystine levels in the range of 50-200 micromolar.
subclass of: HP_0010919
notation: HP:0002160

Hyperlysinemia
tree view: HP_0010908
IAO_0000115: An increased concentration of lysine in the blood.
has db xref: MSH:D020167
has db xref: SNOMEDCT_US:58558003
has db xref: UMLS:C0268553
has exact synonym: Elevated blood lysine
has OBO namespace: human_phenotype
id: HP:0002161
type: Class
comment: Normal blood lysine levels are around 180-200 micromole per liter.
subclass of: HP_0010908
notation: HP:0002161

Low posterior hairline
tree view: Abnormality of the neck
tree view: HP_0030141
IAO_0000115: Hair on the neck extends more inferiorly than usual.
has db xref: UMLS:C1855728
has exact synonym: Low hairline at back of neck
has exact synonym: Low posterior hair line
has OBO namespace: human_phenotype
id: HP:0002162
in subset: hposlim core
type: Class
comment: This feature is often seen in later childhood, as the neck lengthens, in an individual who was born with redundant nuchal skin, which should be assessed and coded separately.
subclass of: Abnormality of the neck
subclass of: HP_0030141
notation: HP:0002162

HP_0002163
IAO_0000231: IAO_0000227
IAO_0100001: Premature rupture of membranes
type: Class
deprecated: true
notation: HP:0002163

Nail dysplasia
tree view: Abnormality of the nail
IAO_0000115: The presence of developmental dysplasia of the nail.
has alternative id: HP:0001793
has alternative id: HP:0001794
has alternative id: HP:0001797
has alternative id: HP:0008387
has alternative id: HP:0008403
has alternative id: HP:0008409
has alternative id: HP:0008412
has db xref: UMLS:C1834405
has exact synonym: Atypical nail growth
has exact synonym: Dysplastic nails
has exact synonym: Onychodysplasia
has OBO namespace: human_phenotype
id: HP:0002164
type: Class
subclass of: Abnormality of the nail
notation: HP:0002164

Pterygium of nails
tree view: Abnormality of the nail
IAO_0000115: Inward advance of skin over the nail plate.
has db xref: SNOMEDCT_US:110987009
has db xref: UMLS:C0406438
has OBO namespace: human_phenotype
id: HP:0002165
type: Class
subclass of: Abnormality of the nail
notation: HP:0002165

Impaired vibration sensation in the lower limbs
tree view: Impaired vibratory sensation
IAO_0000115: A decrease in the ability to perceive vibration in the legs.
has db xref: UMLS:C1849134
has exact synonym: Decreased lower limb vibratory sense
has exact synonym: Decreased vibratory sense in lower limbs
has exact synonym: Decreased vibratory sense in the lower extremities
has exact synonym: Decreased vibratory sense in the lower limbs
has exact synonym: Diminished vibratory sensation in the legs
has exact synonym: Distal sensory loss, especially vibratory sense
has exact synonym: Distal vibratory impairment of the lower limbs
has exact synonym: Impaired vibration sensation in the lower limbs
has OBO namespace: human_phenotype
id: HP:0002166
type: Class
subclass of: Impaired vibratory sensation
notation: HP:0002166

Neurological speech impairment
tree view: HP_0011446
has db xref: MSH:D013064
has db xref: UMLS:C0037822
has exact synonym: Speech disorder
has exact synonym: Speech impairment
has exact synonym: Speech impediment
has OBO namespace: human_phenotype
id: HP:0002167
type: Class
subclass of: HP_0011446
notation: HP:0002167

Scanning speech
tree view: Neurological speech impairment
has db xref: SNOMEDCT_US:102935005
has db xref: SNOMEDCT_US:77420001
has db xref: UMLS:C0278184
has db xref: UMLS:C0522198
has exact synonym: Explosive speech
has OBO namespace: human_phenotype
id: HP:0002168
type: Class
subclass of: Neurological speech impairment
notation: HP:0002168

Clonus
tree view: Hyperreflexia
tree view: Involuntary movements
IAO_0000115: A series of rhythmic and involuntary muscle contractions (at a frequency of about 5 to 7 Hz) that occur in response to an abruptly applied and sustained stretch.
has db xref: SNOMEDCT_US:36649002
has db xref: UMLS:C0009024
has exact synonym: Involuntary rhythmic muscular contractions and relaxations
has OBO namespace: human_phenotype
id: HP:0002169
type: Class
comment: Clonus is a manifestation of spasticity that can occur with lesions of the corticospinal tract. Only sustained clonus (5 beats or more) is considered abnormal.
subclass of: Hyperreflexia
subclass of: Involuntary movements
notation: HP:0002169

Intracranial hemorrhage
tree view: HP_0011029
tree view: HP_0100659
IAO_0000115: Hemorrhage occurring within the skull.
has db xref: MSH:D020300
has db xref: SNOMEDCT_US:1386000
has db xref: UMLS:C0151699
has exact synonym: Bleeding within the skull
has OBO namespace: human_phenotype
id: HP:0002170
type: Class
subclass of: HP_0011029
subclass of: HP_0100659
notation: HP:0002170

Gliosis
tree view: HP_0100705
IAO_0000115: Gliosis is the focal proliferation of glial cells in the central nervous system.
has db xref: MSH:D005911
has db xref: SNOMEDCT_US:359580009
has db xref: SNOMEDCT_US:81415000
has db xref: UMLS:C0017639
has exact synonym: Cerebral gliosis
has exact synonym: Excess astrocytes in brain
has OBO namespace: human_phenotype
id: HP:0002171
type: Class
comment: Gliosis generally occurs as a response to tissue damage. Gliosis appears bright on T2 scans upon magnetic resonance imaging, unlike encephalomalacia which follows CSF signal on all sequences. Glial cells, the non-neuronal component of the central nervous system, are divided into microglia and macroglia. The latter are in turn divided into astrocytes, oligodendrocytes, and ependymal cells. The astrocytes and the microglia are the glial cells predominantly responsible for tissue response to injury.
subclass of: HP_0100705
notation: HP:0002171

Postural instability
tree view: HP_0100022
IAO_0000115: A tendency to fall or the inability to keep oneself from falling; imbalance. The retropulsion test is widely regarded as the gold standard to evaluate postural instability, Use of the retropulsion test includes a rapid balance perturbation in the backward direction, and the number of balance correcting steps (or total absence thereof) is used to rate the degree of postural instability. Healthy subjects correct such perturbations with either one or two large steps, or without taking any steps, hinging rapidly at the hips while swinging the arms forward as a counterweight. In patients with balance impairment, balance correcting steps are often too small, forcing patients to take more than two steps. Taking three or more steps is generally considered to be abnormal, and taking more than five steps is regarded as being clearly abnormal. Markedly affected patients continue to step backward without ever regaining their balance and must be caught by the examiner (this would be called true retropulsion). Even more severely affected patients fail to correct entirely, and fall backward like a pushed toy soldier, without taking any corrective steps.
has db xref: UMLS:C1843921
has exact synonym: Balance impairment
has OBO namespace: human_phenotype
has related synonym: Abnormal retropulsion test
has related synonym: Imbalance
id: HP:0002172
type: Class
subclass of: HP_0100022
notation: HP:0002172

Hypoglycemic seizures
tree view: Hypoglycemia
tree view: HP_0011145
has db xref: UMLS:C0877056
has OBO namespace: human_phenotype
id: HP:0002173
type: Class
subclass of: Hypoglycemia
subclass of: HP_0011145
notation: HP:0002173

Postural tremor
tree view: Action tremor
IAO_0000115: A type of tremors that is triggered by holding a limb in a fixed position.
has alternative id: HP:0006925
has alternative id: HP:0007197
has db xref: MSH:D014202
has db xref: SNOMEDCT_US:56610005
has db xref: UMLS:C0234378
has OBO namespace: human_phenotype
has related synonym: Tremor, postural
id: HP:0002174
type: Class
subclass of: Action tremor
notation: HP:0002174

HP_0002175
IAO_0000231: IAO_0000227
IAO_0100001: Febrile seizures
type: Class
deprecated: true
notation: HP:0002175

Spinal cord compression
tree view: Abnormality of the spinal cord
IAO_0000115: External mechanical compression of the spinal cord.
has db xref: MSH:D013117
has db xref: SNOMEDCT_US:71286001
has db xref: UMLS:C0037926
has exact synonym: Pressure on spinal cord
has OBO namespace: human_phenotype
id: HP:0002176
type: Class
comment: Clinical abnormalities vary according to the site of the compression any may comprise pain, weakness, sensory loss, incontinence, and impotence. The compression may be caused by fractures of the spine, neoplasms, abscesses, and other factors.
subclass of: Abnormality of the spinal cord
notation: HP:0002176

HP_0002177
IAO_0000231: IAO_0000227
IAO_0100001: EMG abnormality
type: Class
deprecated: true
notation: HP:0002177

HP_0002178
IAO_0000231: IAO_0000227
IAO_0100001: EMG: neuropathic changes
type: Class
deprecated: true
notation: HP:0002178

Opisthotonus
tree view: Spasticity
has db xref: SNOMEDCT_US:8652009
has db xref: UMLS:C0151818
has exact synonym: Opisthotonos
has OBO namespace: human_phenotype
id: HP:0002179
type: Class
comment: Severe hyperextension and spasticity in which an individual's head, neck and spinal column arch posteriorly.
subclass of: Spasticity
notation: HP:0002179

Neurodegeneration
tree view: HP_0007367
IAO_0000115: Progressive loss of neural cells and tissue.
has db xref: MSH:D009410
has db xref: MSH:D019636
has db xref: UMLS:C0027746
has db xref: UMLS:C0524851
has db xref: UMLS:C4020854
has exact synonym: Ongoing loss of nerve cells
has OBO namespace: human_phenotype
has related synonym: Neuro-degenerative disease
has related synonym: Neurodegenerative disease
has related synonym: Progressive neurodegenerative disorder
id: HP:0002180
type: Class
subclass of: HP_0007367
notation: HP:0002180

Cerebral edema
tree view: Edema
tree view: Abnormality of the cerebrum
IAO_0000115: Abnormal accumulation of fluid in the brain.
has broad synonym: Brain swelling
has db xref: MSH:D001929
has db xref: SNOMEDCT_US:2032001
has db xref: UMLS:C0006114
has db xref: UMLS:C1527311
has exact synonym: Brain edema
has exact synonym: Brain oedema
has exact synonym: Swelling of brain
has OBO namespace: human_phenotype
id: HP:0002181
type: Class
comment: Cerebral edema refers to swelling within brain tissue due to the accumulation of fluid, and can occur as in response to almost any insulting agent. Edema canbe observed in and around regions of dead or dying brain, around metastases and abscesses, after traumatic injury, following hypoxic ischemic injury, and around primary brain tumors. There are at least five different types of edema: vasogenic, cytotoxic, hydrostatic, interstitial, and hypoosmotic. Three effects of edema are visible on imaging: (i) loss of gray-white matter differentiation; (ii) swelling of sulci (shrinking of gyri); and (iii) mass effects. On CT scanning, extensive low density may represent vasogenic edema. As the brain swells, not only do the sulci decrease, but all of the CSF spaces of the hemispheres (including the ventricles) decrease as well. Magnetic resonance tomography may show abnormalities of diffusion-weighted imaging (DWI), and Fluid attenuation inversion recovery (FLAIR) sequences. Phenotype terms involving cerebral edema thus reflect inference about the underlying processes responsible for these abnormalities on brain imaging.
subclass of: Edema
subclass of: Abnormality of the cerebrum
notation: HP:0002181

HP_0002182
IAO_0000231: IAO_0000227
IAO_0100001: Seizures
type: Class
deprecated: true
notation: HP:0002182

Phonophobia
tree view: HP_0025112
IAO_0000115: An abnormally heightened sensitivity to loud sounds.
has db xref: MSH:D012001
has db xref: SNOMEDCT_US:313387002
has db xref: UMLS:C0751466
has exact synonym: Fear of loud sounds
has OBO namespace: human_phenotype
id: HP:0002183
type: Class
comment: Hyperacusis refers to a general hypersensitivity to sound of any frequency, and phonophobia to an anxious sensitivity towards specific sound largely independent of its volume. Hyperacusis and phonophobia represent disturbances of central auditory processing without peripheral pathology, often combined with psychosomatic reactions. Phonophobia is generally used to refer to discomfort caused by loud sounds rather than 'fear' of sounds as the etymology of the word might suggest.
subclass of: HP_0025112
notation: HP:0002183

HP_0002184
IAO_0000231: IAO_0000227
IAO_0100001: HP_0010818
type: Class
deprecated: true
notation: HP:0002184

Neurofibrillary tangles
tree view: HP_0100314
IAO_0000115: Pathological protein aggregates formed by hyperphosphorylation of a microtubule-associated protein known as tau, causing it to aggregate in an insoluble form.
has alternative id: HP:0003132
has alternative id: HP:0007070
has db xref: MSH:D016874
has db xref: SNOMEDCT_US:85775002
has db xref: UMLS:C0085400
has exact synonym: Neurofibrillary tangles composed of disordered microtubules in neurons
has exact synonym: Paired helical filaments
has OBO namespace: human_phenotype
id: HP:0002185
type: Class
subclass of: HP_0100314
notation: HP:0002185

Apraxia
tree view: HP_0011442
tree view: HP_0011446
IAO_0000115: A defect in the understanding of complex motor commands and in the execution of certain learned movements, i.e., deficits in the cognitive components of learned movements.
has db xref: MSH:D001072
has db xref: SNOMEDCT_US:68345001
has db xref: SNOMEDCT_US:6950007
has db xref: UMLS:C0003635
has OBO namespace: human_phenotype
has related synonym: Apraxias
id: HP:0002186
type: Class
subclass of: HP_0011442
subclass of: HP_0011446
notation: HP:0002186

Intellectual disability, profound
tree view: Intellectual disability
IAO_0000115: Profound mental retardation is defined as an intelligence quotient (IQ) below 20.
has db xref: MSH:D008607
has db xref: SNOMEDCT_US:31216003
has db xref: UMLS:C0020796
has db xref: UMLS:C3161330
has exact synonym: IQ less than 20
has exact synonym: Mental retardation, profound
has exact synonym: Profound mental retardation
has OBO namespace: human_phenotype
id: HP:0002187
type: Class
comment: Persons with profound mental retardation generally require constant care.
subclass of: Intellectual disability
notation: HP:0002187

Delayed CNS myelination
tree view: HP_0011400
tree view: HP_0012448
IAO_0000115: Delayed myelination in the central nervous system.
has alternative id: HP:0005770
has alternative id: HP:0006974
has alternative id: HP:0007300
has db xref: UMLS:C4021758
has exact synonym: Delay in central nervous system myelination
has OBO namespace: human_phenotype
id: HP:0002188
type: Class
comment: A delay in the process of myelination, which normally begins in the fifth fetal month and is about 90 percent complete at the age of two years. Myelination continues into early adulthood.
subclass of: HP_0011400
subclass of: HP_0012448
notation: HP:0002188

Excessive daytime sleepiness
tree view: Sleep disturbance
tree view: Reduced consciousness/confusion
has db xref: UMLS:C0694563
has exact synonym: Excessive daytime sleepiness
has OBO namespace: human_phenotype
id: HP:0002189
type: Class
subclass of: Sleep disturbance
subclass of: Reduced consciousness/confusion
notation: HP:0002189

Choroid plexus cyst
tree view: HP_0007376
IAO_0000115: A cyst occurring within the choroid plexus within a cerebral ventricle.
has db xref: SNOMEDCT_US:230790004
has db xref: UMLS:C0338597
has OBO namespace: human_phenotype
id: HP:0002190
type: Class
comment: Choroid plexus cysts can be observed on prenatal ultrasound examinations and are associated with a weakly increased risk for fetal chromosome abnormalities such as trisomy 18.
subclass of: HP_0007376
notation: HP:0002190

Progressive spasticity
tree view: Spasticity
IAO_0000115: Spasticity that increases in degree with time.
has db xref: UMLS:C1859520
has exact synonym: Spasticity, progressive
has OBO namespace: human_phenotype
id: HP:0002191
type: Class
subclass of: Spasticity
notation: HP:0002191

HP_0002192
IAO_0000231: IAO_0000227
IAO_0100001: Intellectual disability
type: Class
deprecated: true
notation: HP:0002192

Pseudobulbar behavioral symptoms
tree view: Behavioral abnormality
tree view: Pseudobulbar signs
IAO_0000115: Individuals with Pseudobulbar signs often also demonstrate abnormal behavioral symptoms such as inappropriate emotional outbursts of uncontrolled laughter or weeping etc.
has db xref: UMLS:C4025720
has OBO namespace: human_phenotype
id: HP:0002193
type: Class
subclass of: Behavioral abnormality
subclass of: Pseudobulbar signs
notation: HP:0002193

Delayed gross motor development
tree view: Motor delay
IAO_0000115: A type of motor delay characterized by a delay in acquiring the ability to control the large muscles of the body for walking, running, sitting, and crawling.
has alternative id: HP:0006905
has alternative id: HP:0007046
has alternative id: HP:0008973
has db xref: SNOMEDCT_US:430099007
has db xref: UMLS:C1837658
has exact synonym: Delayed gross motor skills
has exact synonym: Delayed motor skills
has exact synonym: Developmental delay, gross motor
has exact synonym: Gross motor delay
has exact synonym: Limited gross motor development
has OBO namespace: human_phenotype
id: HP:0002194
type: Class
subclass of: Motor delay
notation: HP:0002194

Dysgenesis of the cerebellar vermis
tree view: Abnormality of the cerebellar vermis
IAO_0000115: Defective development of the vermis of cerebellum.
has db xref: UMLS:C4025719
has OBO namespace: human_phenotype
id: HP:0002195
type: Class
comment: Note that the term cerebellar dysgenesis is generally used to refer to a morphological abnormality of the cerebellum that is of presumed developmental (rather than acquired) origin,and is often diagnosed by means of magnetic resonance tomography.
subclass of: Abnormality of the cerebellar vermis
notation: HP:0002195

Myelopathy
tree view: Abnormality of the spinal cord
has db xref: MSH:D013118
has db xref: SNOMEDCT_US:48522003
has db xref: UMLS:C0037928
has OBO namespace: human_phenotype
id: HP:0002196
type: Class
subclass of: Abnormality of the spinal cord
notation: HP:0002196

Generalized-onset seizure
tree view: Seizures
IAO_0000115: Seizures of with initial involvement of both cerebral hemispheres.
has alternative id: HP:0002409
has alternative id: HP:0007114
has alternative id: HP:0007339
has db xref: MSH:D012640
has db xref: SNOMEDCT_US:246545002
has db xref: UMLS:C0234533
has db xref: UMLS:C1833488
has exact synonym: Generalized seizures
has exact synonym: Generalized-onset seizures
has OBO namespace: human_phenotype
id: HP:0002197
type: Class
comment: Generalized seizures are sub-categorized into several major types: generalized tonic clonic; myoclonic; absence; and atonic.
subclass of: Seizures
notation: HP:0002197

Dilated fourth ventricle
tree view: Ventriculomegaly
tree view: HP_0010950
IAO_0000115: An abnormal dilatation of the fourth cerebral ventricle.
has alternative id: HP:0007223
has db xref: UMLS:C1847117
has exact synonym: Enlarged fourth ventricle
has OBO namespace: human_phenotype
id: HP:0002198
type: Class
subclass of: Ventriculomegaly
subclass of: HP_0010950
notation: HP:0002198

Hypocalcemic seizures
tree view: Hypocalcemia
tree view: HP_0011145
has db xref: UMLS:C1855841
has exact synonym: Low calcium seizures
has exact synonym: Seizures due to hypocalcemia
has OBO namespace: human_phenotype
id: HP:0002199
type: Class
subclass of: Hypocalcemia
subclass of: HP_0011145
notation: HP:0002199

Pseudobulbar signs
tree view: HP_0012638
IAO_0000115: Pseudobulbar signs result from injury to an upper motor neuron lesion to the corticobulbar pathways in the pyramidal tract. Patients have difficulty chewing, swallowing and demonstrate slurred speech (often initial presentation) as well as abnormal behavioral symptoms such as inappropriate emotional outbursts of uncontrolled laughter or weeping etc.
has db xref: UMLS:C1838579
has exact synonym: Pseudobulbar symptoms
has OBO namespace: human_phenotype
id: HP:0002200
type: Class
subclass of: HP_0012638
notation: HP:0002200

HP_0002201
IAO_0000231: IAO_0000227
IAO_0100001: HP_0007024
type: Class
deprecated: true
notation: HP:0002201

Pleural effusion
tree view: Edema
tree view: Abnormality of the pleura
IAO_0000115: The presence of an excessive amount of fluid in the pleural cavity.
has db xref: MSH:D010996
has db xref: SNOMEDCT_US:60046008
has db xref: UMLS:C0032227
has exact synonym: Fluid around lungs
has OBO namespace: human_phenotype
id: HP:0002202
type: Class
subclass of: Edema
subclass of: Abnormality of the pleura
notation: HP:0002202

Respiratory paralysis
tree view: Paralysis
tree view: Weakness of muscles of respiration
IAO_0000115: Inability to move the muscles of respiration.
has db xref: MSH:D012133
has db xref: SNOMEDCT_US:64228003
has db xref: UMLS:C0035232
has OBO namespace: human_phenotype
id: HP:0002203
type: Class
subclass of: Paralysis
subclass of: Weakness of muscles of respiration
notation: HP:0002203

Pulmonary embolism
tree view: HP_0030875
IAO_0000115: An embolus (that is, an abnormal particle circulating in the blood) located in the pulmonary artery and thereby blocking blood circulation to the lung. Usually the embolus is a blood clot that has developed in an extremity (for instance, a deep venous thrombosis), detached, and traveled through the circulation before becoming trapped in the pulmonary artery.
has db xref: MSH:D011655
has db xref: SNOMEDCT_US:59282003
has db xref: UMLS:C0034065
has exact synonym: Blood clot in artery of lung
has OBO namespace: human_phenotype
id: HP:0002204
type: Class
subclass of: HP_0030875
notation: HP:0002204

Recurrent respiratory infections
tree view: Recurrent infections
tree view: HP_0011947
IAO_0000115: An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.
has alternative id: HP:0002782
has alternative id: HP:0002873
has db xref: UMLS:C3806482
has exact synonym: Frequent respiratory infections
has exact synonym: Multiple respiratory infections
has exact synonym: Recurrent respiratory infections
has exact synonym: Susceptibility to respiratory infections
has exact synonym: respiratory infections, recurrent
has OBO namespace: human_phenotype
id: HP:0002205
type: Class
subclass of: Recurrent infections
subclass of: HP_0011947
notation: HP:0002205

Pulmonary fibrosis
tree view: Abnormal lung morphology
IAO_0000115: Replacement of normal lung tissues by fibroblasts and collagen.
has alternative id: HP:0006523
has db xref: MSH:D011658
has db xref: SNOMEDCT_US:51615001
has db xref: UMLS:C0034069
has OBO namespace: human_phenotype
id: HP:0002206
type: Class
comment: Pulmonary fibrosis leads to an irreversible impairment of alveolar oxygen transfer.
subclass of: Abnormal lung morphology
notation: HP:0002206

Diffuse reticular or finely nodular infiltrations
tree view: Pulmonary infiltrates
has db xref: UMLS:C1843428
has OBO namespace: human_phenotype
id: HP:0002207
type: Class
subclass of: Pulmonary infiltrates
notation: HP:0002207

Coarse hair
tree view: HP_0010719
IAO_0000115: Hair shafts are rough in texture.
has alternative id: HP:0200078
has broad synonym: Rough hair texture
has db xref: SNOMEDCT_US:48610005
has db xref: UMLS:C0277959
has db xref: UMLS:C4072834
has exact synonym: Coarse hair
has exact synonym: Coarse hair texture
has OBO namespace: human_phenotype
id: HP:0002208
in subset: hposlim core
type: Class
subclass of: HP_0010719
notation: HP:0002208

Sparse scalp hair
tree view: HP_0008070
tree view: HP_0100037
IAO_0000115: Decreased number of head hairs per unit area.
has alternative id: HP:0002233
has alternative id: HP:0002556
has alternative id: HP:0004534
has alternative id: HP:0004541
has alternative id: HP:0004542
has alternative id: HP:0004772
has alternative id: HP:0004774
has alternative id: HP:0004775
has db xref: UMLS:C1857042
has exact synonym: Scalp hair, thinning
has exact synonym: Sparse scalp hair
has exact synonym: Sparse, thin scalp hair
has exact synonym: sparse-absent scalp hair
has OBO namespace: human_phenotype
has related synonym: Thin scalp hair
id: HP:0002209
type: Class
comment: Hypotrichosis should not be used as a synonym as, formally, it means underdevelopment of the hair. No normal values for number of hairs per unit area exist.
subclass of: HP_0008070
subclass of: HP_0100037
notation: HP:0002209

HP_0002210
IAO_0000231: IAO_0000227
IAO_0100001: Synophrys
type: Class
deprecated: true
notation: HP:0002210

White forelock
tree view: HP_0011365
IAO_0000115: A triangular depigmented region of white hairs located in the anterior midline of the scalp.
has db xref: SNOMEDCT_US:247564004
has db xref: UMLS:C0344312
has exact synonym: Poliosis of anterior hair
has exact synonym: Poliosis of forelock hair
has exact synonym: White part of hair above forehead
has OBO namespace: human_phenotype
id: HP:0002211
in subset: hposlim core
type: Class
subclass of: HP_0011365
notation: HP:0002211

Curly hair
tree view: HP_0010719
has db xref: SNOMEDCT_US:225570000
has db xref: UMLS:C0558165
has exact synonym: Curly hair
has OBO namespace: human_phenotype
id: HP:0002212
type: Class
subclass of: HP_0010719
notation: HP:0002212

Fine hair
tree view: HP_0010719
IAO_0000115: Hair that is fine or thin to the touch.
has alternative id: HP:0200132
has db xref: SNOMEDCT_US:247546006
has db xref: UMLS:C0423867
has exact synonym: Fine hair
has exact synonym: Fine hair shaft
has exact synonym: Fine hair texture
has exact synonym: Thin hair
has exact synonym: Thin hair shaft
has exact synonym: Thin hair texture
has exact synonym: Thinned hair
has OBO namespace: human_phenotype
id: HP:0002213
in subset: hposlim core
type: Class
subclass of: HP_0010719
notation: HP:0002213

HP_0002214
IAO_0000231: IAO_0000227
IAO_0100001: Fair hair
type: Class
deprecated: true
notation: HP:0002214

Sparse axillary hair
tree view: HP_0008070
tree view: HP_0100134
IAO_0000115: Reduced number or density of axillary hair.
has alternative id: HP:0004514
has alternative id: HP:0004518
has alternative id: HP:0004545
has db xref: UMLS:C1858574
has exact synonym: Limited armpit hair
has exact synonym: Little underarm hair
has exact synonym: Sparse axillary and pubic hair
has exact synonym: Sparse scalp, axillary, and pubic hair
has exact synonym: sparse to absent axillary hair
has OBO namespace: human_phenotype
id: HP:0002215
type: Class
subclass of: HP_0008070
subclass of: HP_0100134
notation: HP:0002215

Premature graying of hair
tree view: HP_0007495
tree view: HP_0009887
IAO_0000115: Development of gray hair at a younger than normal age.
has db xref: SNOMEDCT_US:387833009
has db xref: UMLS:C0263498
has exact synonym: Early graying
has exact synonym: Premature graying
has exact synonym: Premature graying of hair
has exact synonym: Premature greying
has exact synonym: Premature hair graying
has OBO namespace: human_phenotype
has related synonym: Premature graying of the hair
id: HP:0002216
in subset: hposlim core
type: Class
subclass of: HP_0007495
subclass of: HP_0009887
notation: HP:0002216

Slow-growing hair
tree view: HP_0011363
IAO_0000115: Hair whose growth is slower than normal.
has alternative id: HP:0004767
has alternative id: HP:0004770
has alternative id: HP:0004781
has db xref: UMLS:C1832348
has exact synonym: Slow growing hair
has exact synonym: Slow rate of hair growth
has exact synonym: Slow speed of hair growth
has exact synonym: Slow-growing hair
has OBO namespace: human_phenotype
id: HP:0002217
in subset: hposlim core
type: Class
subclass of: HP_0011363
notation: HP:0002217

Silver-gray hair
tree view: HP_0011358
IAO_0000115: Hypopigmented hair that appears silver-gray.
has db xref: UMLS:C1836576
has exact synonym: Silver-gray hair
has exact synonym: Silver-gray hair color
has exact synonym: Silvery-gray hair
has OBO namespace: human_phenotype
id: HP:0002218
type: Class
subclass of: HP_0011358
notation: HP:0002218

Facial hypertrichosis
tree view: Hypertrichosis
IAO_0000115: Excessive, increased hair growth located in the facial region.
has db xref: MSH:C565029
has db xref: UMLS:C1851400
has exact synonym: Increased facial hair growth
has OBO namespace: human_phenotype
id: HP:0002219
type: Class
subclass of: Hypertrichosis
notation: HP:0002219

Melanin pigment aggregation in hair shafts
tree view: HP_0009887
has db xref: UMLS:C1843390
has OBO namespace: human_phenotype
id: HP:0002220
type: Class
subclass of: HP_0009887
notation: HP:0002220

Absent axillary hair
tree view: Absent hair
tree view: HP_0100134
IAO_0000115: Absence of axillary hair.
has alternative id: HP:0004549
has db xref: UMLS:C1859392
has OBO namespace: human_phenotype
id: HP:0002221
type: Class
subclass of: Absent hair
subclass of: HP_0100134
notation: HP:0002221

HP_0002222
IAO_0000231: IAO_0000227
IAO_0100001: Sparse and thin eyebrow
type: Class
deprecated: true
notation: HP:0002222

Absent eyebrow
tree view: Absent hair
tree view: HP_0100840
IAO_0000115: Absence of the eyebrow.
has db xref: SNOMEDCT_US:253208007
has db xref: SNOMEDCT_US:422441003
has db xref: UMLS:C0431448
has db xref: UMLS:C0578682
has db xref: UMLS:C4280581
has db xref: UMLS:C4280582
has exact synonym: Absent eyebrow
has exact synonym: Absent eyebrows
has exact synonym: Failure of development of eyebrows
has narrow synonym: Agenesis of eyebrows
has narrow synonym: Aplasia of eyebrows
has narrow synonym: Loss of eyebrows
has narrow synonym: Missing eyebrows
has OBO namespace: human_phenotype
id: HP:0002223
in subset: hposlim core
type: Class
subclass of: Absent hair
subclass of: HP_0100840
notation: HP:0002223

Woolly hair
tree view: HP_0010719
has broad synonym: Nappy hair texture
has db xref: MEDDRA:10048017
has db xref: SNOMEDCT_US:52564001
has db xref: UMLS:C0343073
has db xref: UMLS:C4072835
has db xref: UMLS:C4072836
has db xref: UMLS:C4073292
has exact synonym: Kinked hair
has OBO namespace: human_phenotype
has related synonym: Afro-textured hair
has related synonym: Kinky hair texture
id: HP:0002224
in subset: hposlim core
type: Class
subclass of: HP_0010719
notation: HP:0002224

Sparse pubic hair
tree view: HP_0008070
tree view: HP_0100133
IAO_0000115: Reduced number or density of pubic hair.
has alternative id: HP:0004778
has db xref: UMLS:C1858573
has exact synonym: Decreased sexual hair
has exact synonym: Sparse pubic hair
has exact synonym: sparse to absent pubic hair
has OBO namespace: human_phenotype
id: HP:0002225
in subset: hposlim core
type: Class
subclass of: HP_0008070
subclass of: HP_0100133
notation: HP:0002225

White eyebrow
tree view: Abnormal eyebrow morphology
tree view: HP_0009887
IAO_0000115: White color (lack of pigmentation) of the eyebrow.
has alternative id: HP:0002228
has alternative id: HP:0004536
has db xref: UMLS:C1836737
has db xref: UMLS:C4280579
has db xref: UMLS:C4280580
has exact synonym: Depigmented eyebrow
has exact synonym: Hypopigmented eyebrow
has exact synonym: Pale eyebrow
has exact synonym: White eyebrow
has narrow synonym: Grey eyebrow
has OBO namespace: human_phenotype
has related synonym: Blonde eyebrow
id: HP:0002226
in subset: hposlim core
type: Class
subclass of: Abnormal eyebrow morphology
subclass of: HP_0009887
notation: HP:0002226

White eyelashes
tree view: Abnormal eyelash morphology
tree view: HP_0009887
IAO_0000115: White color (lack of pigmentation) of the eyelashes.
has db xref: UMLS:C1836736
has db xref: UMLS:C4280578
has exact synonym: Blonde eyelashes
has exact synonym: Depigmented eyelashes
has exact synonym: Pale eyelashes
has exact synonym: White eyelashes
has narrow synonym: Grey eyelashes
has OBO namespace: human_phenotype
id: HP:0002227
type: Class
subclass of: Abnormal eyelash morphology
subclass of: HP_0009887
notation: HP:0002227

HP_0002228
IAO_0000231: IAO_0000227
IAO_0100001: White eyebrow
type: Class
deprecated: true
notation: HP:0002228

Alopecia areata
tree view: Alopecia
tree view: HP_0011360
IAO_0000115: Loss of round patches of scalp hair.
has db xref: MSH:D000506
has db xref: SNOMEDCT_US:68225006
has db xref: UMLS:C0002171
has OBO namespace: human_phenotype
id: HP:0002229
type: Class
comment: In alopecia areata, round bald patches can appear suddenly.
subclass of: Alopecia
subclass of: HP_0011360
notation: HP:0002229

Generalized hirsutism
tree view: Hirsutism
IAO_0000115: Abnormally increased hair growth over much of the entire body.
has db xref: UMLS:C1849211
has exact synonym: Excessive hairiness over body
has OBO namespace: human_phenotype
id: HP:0002230
type: Class
subclass of: Hirsutism
notation: HP:0002230

Sparse body hair
tree view: HP_0008070
IAO_0000115: Sparseness of the body hair.
has db xref: UMLS:C1862863
has exact synonym: Sparse body hair
has OBO namespace: human_phenotype
id: HP:0002231
in subset: hposlim core
type: Class
subclass of: HP_0008070
notation: HP:0002231

Patchy alopecia
tree view: Alopecia
has db xref: MSH:C531609
has db xref: UMLS:C1862862
has OBO namespace: human_phenotype
id: HP:0002232
type: Class
subclass of: Alopecia
notation: HP:0002232

HP_0002233
IAO_0000231: IAO_0000227
IAO_0100001: Sparse scalp hair
type: Class
deprecated: true
notation: HP:0002233

Early balding
tree view: HP_0011360
IAO_0000115: Loss of scalp hair at an earlier than normal age.
has db xref: UMLS:C4025718
has exact synonym: Early balding
has OBO namespace: human_phenotype
id: HP:0002234
type: Class
subclass of: HP_0011360
notation: HP:0002234

Pili canaliculi
tree view: Abnormal hair laboratory examination
IAO_0000115: Uncombable hair.
has alternative id: HP:0002285
has db xref: UMLS:C1860608
has OBO namespace: human_phenotype
id: HP:0002235
type: Class
subclass of: Abnormal hair laboratory examination
notation: HP:0002235

Frontal upsweep of hair
tree view: HP_0010721
IAO_0000115: Upward and/or sideward growth of anterior hair.
has db xref: UMLS:C1185616
has db xref: UMLS:C2675540
has db xref: UMLS:C3275754
has exact synonym: Cowlick
has exact synonym: Frontal Cowlick
has exact synonym: Frontal upsweep of hair
has exact synonym: Upswept frontal hair
has OBO namespace: human_phenotype
has related synonym: Upswept frontal hair pattern
has related synonym: Upswept frontal hairline
id: HP:0002236
in subset: hposlim core
type: Class
subclass of: HP_0010721
notation: HP:0002236

HP_0002237
IAO_0000231: IAO_0000227
IAO_0100001: HP_0008070
type: Class
deprecated: true
notation: HP:0002237

HP_0002238
IAO_0000231: IAO_0000227
IAO_0100001: Alopecia
type: Class
deprecated: true
notation: HP:0002238

Gastrointestinal hemorrhage
tree view: HP_0011029
tree view: HP_0012719
IAO_0000115: Hemorrhage affecting the gastrointestinal tract.
has db xref: MSH:D006471
has db xref: SNOMEDCT_US:74474003
has db xref: UMLS:C0017181
has exact synonym: GI hemorrhage
has exact synonym: Gastrointestinal bleeding
has OBO namespace: human_phenotype
id: HP:0002239
type: Class
subclass of: HP_0011029
subclass of: HP_0012719
notation: HP:0002239

Hepatomegaly
tree view: Visceromegaly
tree view: HP_0410042
IAO_0000115: Abnormally increased size of the liver.
has alternative id: HP:0001393
has alternative id: HP:0001398
has db xref: MSH:D006529
has db xref: SNOMEDCT_US:80515008
has db xref: UMLS:C0019209
has exact synonym: Enlarged liver
has OBO namespace: human_phenotype
id: HP:0002240
type: Class
subclass of: Visceromegaly
subclass of: HP_0410042
notation: HP:0002240

HP_0002241
IAO_0000231: IAO_0000227
IAO_0100001: Constipation
type: Class
deprecated: true
notation: HP:0002241

Abnormal intestine morphology
tree view: HP_0012718
IAO_0000115: An abnormality of the intestine. The closely related term enteropathy is used to refer to any disease of the intestine.
has alternative id: HP:0002628
has db xref: MSH:D007410
has db xref: SNOMEDCT_US:85919009
has db xref: UMLS:C0021831
has exact synonym: Abnormality of the intestine
has exact synonym: Enteropathy
has OBO namespace: human_phenotype
id: HP:0002242
type: Class
subclass of: HP_0012718
notation: HP:0002242

Protein-losing enteropathy
tree view: Abnormality of the small intestine
IAO_0000115: Abnormal loss of protein from the digestive tract related to excessive leakage of plasma proteins into the lumen of the gastrointestinal tract.
has db xref: MSH:D011504
has db xref: SNOMEDCT_US:22542007
has db xref: SNOMEDCT_US:66972006
has db xref: UMLS:C0033680
has OBO namespace: human_phenotype
id: HP:0002243
type: Class
comment: Affected individuals may present with peripheral edema, diarrhea with or without bleeding, abdominal pain, and/or weight loss. Protein-losing enteropathy is not a disease but is a manifestation of a number of gastrointestinal diseases and can be related to factors such as lymphatic obstruction, mucosal disease with erosions, ulcerations, or increased mucosal permeability to proteins.
subclass of: Abnormality of the small intestine
notation: HP:0002243

Abnormality of the small intestine
tree view: Abnormal intestine morphology
IAO_0000115: An abnormality of the small intestine.
has db xref: UMLS:C4025717
has OBO namespace: human_phenotype
id: HP:0002244
type: Class
subclass of: Abnormal intestine morphology
notation: HP:0002244

Meckel diverticulum
tree view: Abnormal ileum morphology
IAO_0000115: Meckel's diverticulum is a congenital diverticulum located in the distal ileum.
has db xref: MEDDRA:10027055
has db xref: MSH:D008467
has db xref: SNOMEDCT_US:127962001
has db xref: SNOMEDCT_US:37373007
has db xref: UMLS:C0025037
has OBO namespace: human_phenotype
id: HP:0002245
type: Class
subclass of: Abnormal ileum morphology
notation: HP:0002245

Abnormality of the duodenum
tree view: Abnormality of the small intestine
IAO_0000115: An abnormality of the duodenum, i.e., the first section of the small intestine.
has db xref: UMLS:C4025716
has OBO namespace: human_phenotype
id: HP:0002246
in subset: hposlim core
type: Class
subclass of: Abnormality of the small intestine
notation: HP:0002246

Duodenal atresia
tree view: Abnormality of the duodenum
tree view: HP_0011100
IAO_0000115: A developmental defect resulting in complete obliteration of the duodenal lumen, that is, an abnormal closure of the duodenum.
has db xref: Fyler:4406
has db xref: MEDDRA:10013812
has db xref: MSH:C535720
has db xref: SNOMEDCT_US:51118003
has db xref: UMLS:C0266174
has exact synonym: Absence or narrowing of first part of small bowel
has OBO namespace: human_phenotype
id: HP:0002247
in subset: hposlim core
type: Class
subclass of: Abnormality of the duodenum
subclass of: HP_0011100
notation: HP:0002247

Hematemesis
tree view: Gastrointestinal hemorrhage
IAO_0000115: The vomiting of blood.
has db xref: MSH:D006396
has db xref: SNOMEDCT_US:8765009
has db xref: UMLS:C0018926
has exact synonym: Vomitting blood
has OBO namespace: human_phenotype
id: HP:0002248
type: Class
comment: The source of hematemesis is generally the upper gastrointestinal tract.
subclass of: Gastrointestinal hemorrhage
notation: HP:0002248

Melena
tree view: Gastrointestinal hemorrhage
tree view: HP_0025085
IAO_0000115: The passage of blackish, tarry feces associated with gastrointestinal hemorrhage. Melena occurs if the blood remains in the colon long enough for it to be broken down by colonic bacteria. One degradation product, hematin, imbues the stool with a blackish color. Thus, melena generally occurs with bleeding from the upper gastrointestinal tract (e.g., stomach ulcers or duodenal ulcers), since the blood usually remains in the gut for a longer period of time than with lower gastrointestinal bleeding.
has db xref: MSH:D008551
has db xref: SNOMEDCT_US:249627005
has db xref: SNOMEDCT_US:267055007
has db xref: SNOMEDCT_US:269899009
has db xref: SNOMEDCT_US:2901004
has db xref: SNOMEDCT_US:35064005
has db xref: UMLS:C0025222
has db xref: UMLS:C0474585
has narrow synonym: Black feces
has OBO namespace: human_phenotype
id: HP:0002249
type: Class
subclass of: Gastrointestinal hemorrhage
subclass of: HP_0025085
notation: HP:0002249

Abnormal large intestine morphology
tree view: Abnormal intestine morphology
IAO_0000115: Any abnormality of the large intestine.
has db xref: UMLS:C4025715
has exact synonym: Abnormality of the large intestine
has OBO namespace: human_phenotype
id: HP:0002250
type: Class
comment: The large intestine comprises the cecum and colon.
subclass of: Abnormal intestine morphology
notation: HP:0002250

Aganglionic megacolon
tree view: Abnormality of enteric ganglion morphology
IAO_0000115: An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon.
has alternative id: HP:0002029
has alternative id: HP:0002030
has alternative id: HP:0002606
has alternative id: HP:0004391
has db xref: MEDDRA:10027110
has db xref: MSH:D006627
has db xref: MSH:D008531
has db xref: SNOMEDCT_US:204739008
has db xref: SNOMEDCT_US:33995003
has db xref: SNOMEDCT_US:367495003
has db xref: UMLS:C0019569
has db xref: UMLS:C0025160
has exact synonym: Congenital megacolon
has exact synonym: Enlarged colon lacking nerve cells
has exact synonym: Hirschsprung megacolon
has exact synonym: Megacolon
has OBO namespace: human_phenotype
has related synonym: Hirschsprung disease
id: HP:0002251
in subset: hposlim core
type: Class
comment: Aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract.
subclass of: Abnormality of enteric ganglion morphology
notation: HP:0002251

HP_0002252
IAO_0000231: IAO_0000227
IAO_0100001: Hepatic steatosis
type: Class
deprecated: true
notation: HP:0002252

Colonic diverticula
tree view: Abnormal large intestine morphology
tree view: HP_0005222
IAO_0000115: The presence of multiple diverticula of the colon.
has alternative id: HP:0005860
has db xref: MEDDRA:10009993
has db xref: MSH:D004241
has db xref: MSH:D043963
has db xref: SNOMEDCT_US:398050005
has db xref: UMLS:C0012811
has db xref: UMLS:C0012819
has exact synonym: Colonic diverticulosis
has OBO namespace: human_phenotype
has related synonym: Colon diverticula
id: HP:0002253
in subset: hposlim core
type: Class
subclass of: Abnormal large intestine morphology
subclass of: HP_0005222
notation: HP:0002253

Intermittent diarrhea
tree view: Diarrhea
has db xref: UMLS:C0239181
has OBO namespace: human_phenotype
id: HP:0002254
type: Class
subclass of: Diarrhea
notation: HP:0002254

HP_0002255
IAO_0000231: IAO_0000227
IAO_0100001: Hematochezia
type: Class
deprecated: true
notation: HP:0002255

Small bowel diverticula
tree view: Abnormality of the small intestine
tree view: HP_0005222
has db xref: MEDDRA:10013533
has db xref: SNOMEDCT_US:8114009
has db xref: UMLS:C0267498
has OBO namespace: human_phenotype
id: HP:0002256
in subset: hposlim core
type: Class
subclass of: Abnormality of the small intestine
subclass of: HP_0005222
notation: HP:0002256

Chronic rhinitis
tree view: HP_0012384
IAO_0000115: Chronic inflammation of the nasal mucosa.
has db xref: SNOMEDCT_US:86094006
has db xref: UMLS:C0008711
has OBO namespace: human_phenotype
id: HP:0002257
type: Class
subclass of: HP_0012384
notation: HP:0002257

HP_0002258
IAO_0000231: IAO_0000227
IAO_0100001: Brachycephaly
type: Class
deprecated: true
notation: HP:0002258

HP_0002259
IAO_0000231: IAO_0000227
IAO_0100001: HP_0010628
type: Class
deprecated: true
notation: HP:0002259

HP_0002260
IAO_0000231: IAO_0000227
IAO_0100001: Abnormal facial shape
type: Class
deprecated: true
notation: HP:0002260

HP_0002261
IAO_0000231: IAO_0000227
IAO_0100001: Narrow mouth
type: Class
deprecated: true
notation: HP:0002261

HP_0002262
IAO_0000231: IAO_0000227
IAO_0100001: Full cheeks
type: Class
deprecated: true
notation: HP:0002262

Exaggerated cupid's bow
tree view: HP_0011339
IAO_0000115: More pronounced paramedian peaks and median notch of the Cupid's bow.
has db xref: UMLS:C1850629
has exact synonym: Cupid bow upper lip
has exact synonym: Cupid's bow, accentuated
has exact synonym: Cupid-bow shaped upper lip
has exact synonym: Exaggerated cupid's bow
has exact synonym: Prominent cupid-bow of upper lip
has OBO namespace: human_phenotype
id: HP:0002263
in subset: hposlim core
type: Class
comment: This may be associated with a Deep philtrum, but that finding should be coded separately.
subclass of: HP_0011339
notation: HP:0002263

HP_0002264
IAO_0000231: IAO_0000227
IAO_0100001: Everted lower lip vermilion
type: Class
deprecated: true
notation: HP:0002264

Large fleshy ears
tree view: Macrotia
has db xref: UMLS:C3808403
has exact synonym: Large fleshy ears
has OBO namespace: human_phenotype
id: HP:0002265
type: Class
subclass of: Macrotia
notation: HP:0002265

Focal clonic seizures
tree view: HP_0011153
has db xref: MSH:D020938
has db xref: UMLS:C0752323
has exact synonym: Localized clonic seizure
has exact synonym: Partial clonic seizure
has OBO namespace: human_phenotype
id: HP:0002266
type: Class
subclass of: HP_0011153
notation: HP:0002266

Exaggerated startle response
tree view: Abnormality of extrapyramidal motor function
IAO_0000115: An exaggerated startle reaction in response to a sudden unexpected visual or acoustic stimulus, or a quick movement near the face.
has db xref: MSH:D000071017
has db xref: SNOMEDCT_US:19557000
has db xref: UMLS:C0234166
has db xref: UMLS:C1740801
has db xref: UMLS:C1836014
has db xref: UMLS:C1848918
has exact synonym: Exaggerated acoustic startle response
has exact synonym: Increased startle response
has OBO namespace: human_phenotype
has related synonym: Hyperekplexia
id: HP:0002267
type: Class
subclass of: Abnormality of extrapyramidal motor function
notation: HP:0002267

Paroxysmal dystonia
tree view: Dystonia
IAO_0000115: A form of dystonia characterized by episodes of dystonia (often hemidystonia or generalized) lasting from minutes to hours. There are no dystonic symptoms between episodes.
has alternative id: HP:0002412
has db xref: MSH:D004421
has db xref: SNOMEDCT_US:230310003
has db xref: UMLS:C0393588
has exact synonym: Episodic dystonia
has OBO namespace: human_phenotype
id: HP:0002268
type: Class
subclass of: Dystonia
notation: HP:0002268

Abnormality of neuronal migration
tree view: Morphological abnormality of the central nervous system
IAO_0000115: An abnormality resulting from an anomaly of neuronal migration, i.e., of the process by which neurons travel from their origin to their final position in the brain.
has alternative id: HP:0007317
has db xref: MSH:D054081
has db xref: UMLS:C1837249
has exact synonym: Abnormal neuronal migration
has exact synonym: Heterotopias/abnormal migration
has exact synonym: Migrational brain disorder
has exact synonym: Neuronal migration disorder
has OBO namespace: human_phenotype
id: HP:0002269
type: Class
subclass of: Morphological abnormality of the central nervous system
notation: HP:0002269

Abnormality of the autonomic nervous system
tree view: HP_0410008
IAO_0000115: An abnormality of the autonomic nervous system.
has db xref: UMLS:C4025714
has OBO namespace: human_phenotype
id: HP:0002270
type: Class
comment: The autonomic nervous system is the part of the peripheral nervous system that controls visceral functions such as heart rate and digestion and functions largely below the level of consciousness.
subclass of: HP_0410008
notation: HP:0002270

obsolete Autonomic dysregulation
IAO_0000231: IAO_0000227
IAO_0100001: HP_0012332
IAO_0100001: HP:0012332
has OBO namespace: human_phenotype
id: HP:0002271
type: Class
deprecated: true
notation: HP:0002271

HP_0002272
IAO_0000231: IAO_0000227
IAO_0100001: HP_0007165
type: Class
deprecated: true
notation: HP:0002272

Tetraparesis
tree view: HP_0030182
IAO_0000115: Weakness of all four limbs.
has alternative id: HP:0002338
has db xref: MSH:D011782
has db xref: SNOMEDCT_US:91327001
has db xref: UMLS:C0270790
has exact synonym: Quadriparesis
has OBO namespace: human_phenotype
id: HP:0002273
type: Class
comment: Tetraplegia refers to a complete loss of strength, whereas Tetraparesis refers to an incomplete loss of strength.
subclass of: HP_0030182
notation: HP:0002273

HP_0002274
IAO_0000231: IAO_0000227
IAO_0100001: Dementia
type: Class
deprecated: true
notation: HP:0002274

Poor motor coordination
tree view: HP_0011443
has db xref: UMLS:C1848453
has exact synonym: Poor motor coordination
has OBO namespace: human_phenotype
id: HP:0002275
type: Class
subclass of: HP_0011443
notation: HP:0002275

HP_0002276
IAO_0000231: IAO_0000227
IAO_0100001: Incoordination
type: Class
deprecated: true
notation: HP:0002276

Horner syndrome
tree view: Ptosis
tree view: Miosis
tree view: HP_0012332
IAO_0000115: An abnormality resulting from a lesion of the sympathetic nervous system characterized by a combination of unilateral ptosis, miosis, and often ipsilateral hypohidrosis and conjunctival injection.
has alternative id: HP:0000596
has db xref: MSH:D006732
has db xref: SNOMEDCT_US:12731000
has db xref: SNOMEDCT_US:192915005
has db xref: SNOMEDCT_US:271730003
has db xref: UMLS:C0019937
has exact synonym: Horner's syndrome
has exact synonym: Oculosympathetic palsy
has OBO namespace: human_phenotype
id: HP:0002277
type: Class
comment: Ptosis, miosis, and occasionally apparent enophthalmos and anhidrosis on one side of the face, loss of ciliospinal reflex and blood shot conjunctiva.
subclass of: Ptosis
subclass of: Miosis
subclass of: HP_0012332
notation: HP:0002277

HP_0002278
IAO_0000231: IAO_0000227
IAO_0100001: Focal impaired awareness seizure
type: Class
deprecated: true
notation: HP:0002278

HP_0002279
IAO_0000231: IAO_0000227
IAO_0100001: Seizures
type: Class
deprecated: true
notation: HP:0002279

Enlarged cisterna magna
tree view: Ventriculomegaly
IAO_0000115: Increase in size of the cisterna magna, one of three principal openings in the subarachnoid space between the arachnoid and pia mater, located between the cerebellum and the dorsal surface of the medulla oblongata.
has db xref: UMLS:C1853377
has exact synonym: Large cisterna magna
has OBO namespace: human_phenotype
has related synonym: Mega cisterna magna
id: HP:0002280
type: Class
comment: Cerebrospinal fluid produced in the fourth ventricle drains into the cisterna magna via the lateral apertures and median aperture.
subclass of: Ventriculomegaly
notation: HP:0002280

obsolete Gray matter heterotopias
IAO_0000231: IAO_0000227
IAO_0100001: Gray matter heterotopia
IAO_0100001: HP:0002282
has OBO namespace: human_phenotype
id: HP:0002281
type: Class
deprecated: true
notation: HP:0002281

Gray matter heterotopia
tree view: Abnormality of neuronal migration
IAO_0000115: Heterotopia or neuronal heterotopia are macroscopic clusters of misplaced neurons (gray matter), most often situated along the ventricular walls or within the subcortical white matter.
has alternative id: HP:0002281
has alternative id: HP:0007314
has db xref: MSH:D002828
has db xref: SNOMEDCT_US:128490007
has db xref: SNOMEDCT_US:416286003
has db xref: SNOMEDCT_US:417338002
has db xref: UMLS:C0008519
has exact synonym: Gray matter heterotopias
has exact synonym: Grey matter heterotopia
has exact synonym: Heterotopia
has exact synonym: Heterotopias
has exact synonym: Neuronal heterotopia
has OBO namespace: human_phenotype
id: HP:0002282
type: Class
comment: Gray matter heterotopia is caused by clumps of grey matter being located in the wrong part of the brain. It is characterized as a type of cortical malformation. The neurons in heterotopia may appear to be normal, except for their mislocation; nuclear studies have shown glucose metabolism equal to that of normally positioned gray matter. The condition causes a variety of symptoms, but usually includes some degree of epilepsy or recurring seizures, and often affects the brain's ability to function on higher levels. Symptoms range from nonexistent to profound, in which case heterotopia can result in severe seizure disorder, loss of motor skills, and mental retardation.
comment: Neuronal heterotopia consists of grey matter within the white matter, and the term grey matter heterotopia is more frequently used.
subclass of: Abnormality of neuronal migration
notation: HP:0002282

Global brain atrophy
tree view: Aplasia/Hypoplasia involving the central nervous system
tree view: HP_0012444
IAO_0000115: Unlocalized atrophy of the brain with decreased total brain matter volume and increased ventricular size.
has alternative id: HP:0002369
has alternative id: HP:0002462
has db xref: UMLS:C0241816
has exact synonym: Diffuse brain atrophy
has exact synonym: Generalized brain atrophy
has exact synonym: Generalized brain degeneration
has exact synonym: Generalized cerebral atrophy
has OBO namespace: human_phenotype
id: HP:0002283
type: Class
comment: Global brain atrophy can be visualized and quantified by magnetic resonance imaging.
subclass of: Aplasia/Hypoplasia involving the central nervous system
subclass of: HP_0012444
notation: HP:0002283

HP_0002284
IAO_0000231: IAO_0000227
IAO_0100001: Sparse eyelashes
type: Class
deprecated: true
notation: HP:0002284

HP_0002285
IAO_0000231: IAO_0000227
IAO_0100001: Pili canaliculi
type: Class
deprecated: true
notation: HP:0002285

Fair hair
tree view: HP_0011358
IAO_0000115: A lesser degree of hair pigmentation than would otherwise be expected.
has alternative id: HP:0002214
has alternative id: HP:0002294
has db xref: SNOMEDCT_US:297995004
has db xref: UMLS:C0239801
has db xref: UMLS:C1849221
has exact synonym: Blond hair
has exact synonym: Fair hair
has exact synonym: Fair hair color
has exact synonym: Flaxen hair color
has exact synonym: Light colored hair
has exact synonym: Sandy hair color
has exact synonym: Straw colored hair
has exact synonym: Towhead (hair color)
has OBO namespace: human_phenotype
id: HP:0002286
type: Class
comment: For instance, in Angelman syndrome, reduced expression of the gene OCA2 is associated with light-colored hair and fair skin, such that affected children often have noticeably fairer hair than their unaffected relatives.
subclass of: HP_0011358
notation: HP:0002286

Progressive alopecia
tree view: Alopecia
IAO_0000115: Progressive loss of hair.
has db xref: UMLS:C1851885
has OBO namespace: human_phenotype
id: HP:0002287
type: Class
subclass of: Alopecia
notation: HP:0002287

HP_0002288
IAO_0000231: IAO_0000227
IAO_0100001: Absent eyelashes
type: Class
deprecated: true
notation: HP:0002288

Alopecia universalis
tree view: Alopecia
IAO_0000115: Loss of all hair on the entire body.
has alternative id: HP:0004550
has db xref: MSH:C537055
has db xref: SNOMEDCT_US:86166000
has db xref: UMLS:C0263505
has exact synonym: Alopecia, complete
has OBO namespace: human_phenotype
has related synonym: Universal alopecia
id: HP:0002289
type: Class
subclass of: Alopecia
notation: HP:0002289

Poliosis
tree view: HP_0011365
IAO_0000115: Circumscribed depigmentation of the hair of the head or the eyelashes.
has db xref: SNOMEDCT_US:14240001
has db xref: UMLS:C0221262
has exact synonym: Patch of white hair
has exact synonym: White patch
has OBO namespace: human_phenotype
id: HP:0002290
type: Class
subclass of: HP_0011365
notation: HP:0002290

HP_0002291
IAO_0000231: IAO_0000227
IAO_0100001: HP_0008070
type: Class
deprecated: true
notation: HP:0002291

Frontal balding
tree view: HP_0011360
IAO_0000115: Absence of hair in the anterior midline and/or parietal areas.
has broad synonym: Male pattern baldness
has db xref: MSH:D000505
has db xref: SNOMEDCT_US:87872006
has db xref: UMLS:C1864584
has db xref: UMLS:C4083212
has exact synonym: Frontal balding
has OBO namespace: human_phenotype
id: HP:0002292
in subset: hposlim core
type: Class
subclass of: HP_0011360
notation: HP:0002292

Alopecia of scalp
tree view: Alopecia
tree view: HP_0100037
has alternative id: HP:0200115
has broad synonym: Absence of scalp hair
has broad synonym: Baldness
has broad synonym: Missing scalp hair
has db xref: MSH:D000505
has db xref: SNOMEDCT_US:278040002
has db xref: SNOMEDCT_US:298000004
has db xref: SNOMEDCT_US:56317004
has db xref: UMLS:C0002170
has db xref: UMLS:C0574769
has db xref: UMLS:C1850535
has exact synonym: Pathologic hair loss from scalp
has exact synonym: Scalp hair loss
has OBO namespace: human_phenotype
id: HP:0002293
type: Class
subclass of: Alopecia
subclass of: HP_0100037
notation: HP:0002293

HP_0002294
IAO_0000231: IAO_0000227
IAO_0100001: Fair hair
type: Class
deprecated: true
notation: HP:0002294

HP_0002295
IAO_0000231: IAO_0000227
IAO_0100001: HP_0010719
type: Class
deprecated: true
notation: HP:0002295

Progressive hypotrichosis
tree view: Hypotrichosis
IAO_0000115: Progressively reduced or lacking hair growth.
has db xref: UMLS:C1857048
has OBO namespace: human_phenotype
id: HP:0002296
type: Class
subclass of: Hypotrichosis
notation: HP:0002296

Red hair
tree view: HP_0009887
has broad synonym: Ginger hair color
has db xref: SNOMEDCT_US:297997007
has db xref: UMLS:C0239803
has exact synonym: Red hair
has exact synonym: Red hair color
has exact synonym: Red head (hair color)
has OBO namespace: human_phenotype
id: HP:0002297
type: Class
subclass of: HP_0009887
notation: HP:0002297

Absent hair
tree view: HP_0011362
has alternative id: HP:0004548
has db xref: SNOMEDCT_US:297991008
has db xref: UMLS:C0574763
has exact synonym: Absent hair
has OBO namespace: human_phenotype
id: HP:0002298
type: Class
subclass of: HP_0011362
notation: HP:0002298

Brittle hair
tree view: HP_0010719
IAO_0000115: Fragile, easily breakable hair, i.e., with reduced tensile strength.
has broad synonym: Easily breakable hair
has broad synonym: Fractured hair
has broad synonym: Fragile hair
has broad synonym: Reduced tensile strength of hair
has db xref: SNOMEDCT_US:25159003
has db xref: UMLS:C0263490
has db xref: UMLS:C1851868
has db xref: UMLS:C1970705
has db xref: UMLS:C4072837
has exact synonym: Brittle hair
has OBO namespace: human_phenotype
id: HP:0002299
type: Class
comment: Brittle is used to describe hair which is very short because of an abnormality is in the structure of the shaft. Microscopically the ends appear fractured. Affected patients may report bits of hair on the collar or pillow. Brittle hair can be distinguished from hypotrichosis due to slow or deficient growth (e.g., due to hypotrichosis simplex) and hypotrichosis due to the hair being fine and soft where the hair just wears out too quickly (e.g., due to ectodermal dysplasia).
subclass of: HP_0010719
notation: HP:0002299

Mutism
tree view: Behavioral abnormality
tree view: Neurological speech impairment
has db xref: MSH:D009155
has db xref: SNOMEDCT_US:88052002
has db xref: UMLS:C0026884
has exact synonym: Inability to speak
has exact synonym: Muteness
has OBO namespace: human_phenotype
id: HP:0002300
type: Class
subclass of: Behavioral abnormality
subclass of: Neurological speech impairment
notation: HP:0002300

Hemiplegia
tree view: Hemiplegia/hemiparesis
IAO_0000115: Paralysis (complete loss of muscle function) in the arm, leg, and in some cases the face on one side of the body.
has db xref: MSH:D006429
has db xref: SNOMEDCT_US:50582007
has db xref: UMLS:C0018991
has exact synonym: Paralysis on one side of body
has OBO namespace: human_phenotype
id: HP:0002301
type: Class
subclass of: Hemiplegia/hemiparesis
notation: HP:0002301

HP_0002302
IAO_0000231: IAO_0000227
IAO_0100001: HP_0100543
type: Class
deprecated: true
notation: HP:0002302

HP_0002303
IAO_0000231: IAO_0000227
IAO_0100001: Mental deterioration
type: Class
deprecated: true
notation: HP:0002303

Akinesia
tree view: Diminished movement
IAO_0000115: Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily.
has db xref: SNOMEDCT_US:33994004
has db xref: UMLS:C0085623
has OBO namespace: human_phenotype
id: HP:0002304
type: Class
comment: Akinesia is a typical extrapyramidal abnormality.
subclass of: Diminished movement
notation: HP:0002304

Athetosis
tree view: Involuntary movements
IAO_0000115: A slow, continuous, involuntary writhing movement that prevents maintenance of a stable posture. Athetosis involves continuous smooth movements that appear random and are not composed of recognizable sub-movements or movement fragments. In contrast to chorea, in athetosis, the same regions of the body are repeatedly involved. Athetosis may worsen with attempts at movement of posture, but athetosis can also occur at rest.
has alternative id: HP:0007167
has alternative id: HP:0007316
has db xref: MSH:D001264
has db xref: SNOMEDCT_US:44913001
has db xref: SNOMEDCT_US:58593005
has db xref: UMLS:C0004158
has db xref: UMLS:C1845265
has exact synonym: Athetoid movements
has exact synonym: Involuntary writhing movements
has exact synonym: Involuntary writhing movements in fingers, hands, toes, and feet
has OBO namespace: human_phenotype
id: HP:0002305
type: Class
comment: Athetosis derives from the Greek word for 'changeable' or 'unfixed'.
subclass of: Involuntary movements
notation: HP:0002305

HP_0002306
IAO_0000231: IAO_0000227
IAO_0100001: Seizures
type: Class
deprecated: true
notation: HP:0002306

Drooling
tree view: Behavioral abnormality
tree view: Excessive salivation
IAO_0000115: Habitual flow of saliva out of the mouth.
has db xref: MSH:D012798
has db xref: SNOMEDCT_US:275295002
has db xref: SNOMEDCT_US:53827007
has db xref: SNOMEDCT_US:62718007
has db xref: UMLS:C0013132
has db xref: UMLS:C0037036
has exact synonym: Dribbling
has exact synonym: Drooling
has exact synonym: Sialorrhea
has OBO namespace: human_phenotype
id: HP:0002307
type: Class
subclass of: Behavioral abnormality
subclass of: Excessive salivation
notation: HP:0002307

Arnold-Chiari malformation
tree view: Cerebellar malformation
IAO_0000115: Arnold-Chiari malformation consists of a downward displacement of the cerebellar tonsils and the medulla through the foramen magnum, sometimes causing hydrocephalus as a result of obstruction of CSF outflow.
has db xref: MSH:D001139
has db xref: SNOMEDCT_US:253184003
has db xref: UMLS:C0003803
has exact synonym: Chiari malformation
has OBO namespace: human_phenotype
id: HP:0002308
type: Class
subclass of: Cerebellar malformation
notation: HP:0002308

HP_0002309
IAO_0000231: IAO_0000227
IAO_0100001: Muscle weakness
type: Class
deprecated: true
notation: HP:0002309

Orofacial dyskinesia
tree view: HP_0100660
has db xref: MSH:D020820
has db xref: SNOMEDCT_US:49386006
has db xref: UMLS:C0152115
has exact synonym: Orofacial dyskinesias
has OBO namespace: human_phenotype
id: HP:0002310
type: Class
subclass of: HP_0100660
notation: HP:0002310

Incoordination
tree view: HP_0011443
has alternative id: HP:0002276
has db xref: MSH:D001259
has db xref: SNOMEDCT_US:281016006
has db xref: SNOMEDCT_US:302289002
has db xref: UMLS:C0520966
has exact synonym: Difficulties in coordination
has exact synonym: Incoordination
has exact synonym: Incoordination of limb movements
has exact synonym: Limb incoordination
has OBO namespace: human_phenotype
id: HP:0002311
type: Class
subclass of: HP_0011443
notation: HP:0002311

Clumsiness
tree view: Incoordination
IAO_0000115: Lack of physical coordination resulting in an abnormal tendency to drop items or bump into objects.
has db xref: SNOMEDCT_US:7006003
has db xref: UMLS:C0233844
has exact synonym: Clumsiness
has OBO namespace: human_phenotype
id: HP:0002312
type: Class
subclass of: Incoordination
notation: HP:0002312

Spastic paraparesis
tree view: Lower limb spasticity
tree view: Paraparesis
has alternative id: HP:0007191
has db xref: MSH:D020336
has db xref: SNOMEDCT_US:312444006
has db xref: UMLS:C0037771
has OBO namespace: human_phenotype
id: HP:0002313
type: Class
subclass of: Lower limb spasticity
subclass of: Paraparesis
notation: HP:0002313

Degeneration of the lateral corticospinal tracts
tree view: HP_0007372
IAO_0000115: Deterioration of the tissues of the lateral corticospinal tracts.
has alternative id: HP:0007254
has db xref: UMLS:C1846566
has exact synonym: Degeneration of lateral corticospinal tracts
has OBO namespace: human_phenotype
id: HP:0002314
type: Class
subclass of: HP_0007372
notation: HP:0002314

Headache
tree view: HP_0012638
IAO_0000115: Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve.
has alternative id: HP:0000266
has alternative id: HP:0001354
has db xref: MSH:D006261
has db xref: SNOMEDCT_US:25064002
has db xref: UMLS:C0018681
has exact synonym: Headache
has exact synonym: Headaches
has OBO namespace: human_phenotype
id: HP:0002315
type: Class
comment: Headache is one of the most common types of recurrent pain as well as one of the most frequent symptoms in neurology. In addition to occasional headaches, there are well-defined headache disorders that vary in incidence, prevalence and duration and can be divided into two broad categories. In secondary headache disorders, headaches are attributed to another condition, such as brain tumour or head injury; for the primary disorders the headache is not due to another condition.
subclass of: HP_0012638
notation: HP:0002315

HP_0002316
IAO_0000231: IAO_0000227
IAO_0100001: Intellectual disability
type: Class
deprecated: true
notation: HP:0002316

Unsteady gait
tree view: Gait disturbance
has db xref: MSH:D020233
has db xref: SNOMEDCT_US:22631008
has db xref: SNOMEDCT_US:394616008
has db xref: UMLS:C0231686
has exact synonym: Gait instability
has exact synonym: Unsteady walk
has OBO namespace: human_phenotype
id: HP:0002317
type: Class
subclass of: Gait disturbance
notation: HP:0002317

Cervical myelopathy
tree view: Myelopathy
has db xref: SNOMEDCT_US:202664003
has db xref: UMLS:C0149645
has OBO namespace: human_phenotype
id: HP:0002318
type: Class
subclass of: Myelopathy
notation: HP:0002318

HP_0002319
IAO_0000231: IAO_0000227
IAO_0100001: Hypoplasia of the corpus callosum
type: Class
deprecated: true
notation: HP:0002319

HP_0002320
IAO_0000231: IAO_0000227
IAO_0100001: HP_0008936
type: Class
deprecated: true
notation: HP:0002320

Vertigo
tree view: Vestibular dysfunction
IAO_0000115: An abnormal sensation of spinning while the body is actually stationary.
has db xref: MSH:D004244
has db xref: MSH:D014717
has db xref: SNOMEDCT_US:271789005
has db xref: SNOMEDCT_US:399090003
has db xref: SNOMEDCT_US:399153001
has db xref: SNOMEDCT_US:404640003
has db xref: UMLS:C0012833
has db xref: UMLS:C0042571
has exact synonym: Dizzy spell
has OBO namespace: human_phenotype
has related synonym: Dizziness
id: HP:0002321
type: Class
subclass of: Vestibular dysfunction
notation: HP:0002321

Resting tremor
tree view: Tremor
IAO_0000115: A resting tremor occurs when muscles are at rest and becomes less noticeable or disappears when the affected muscles are moved. Resting tremors are often slow and coarse.
has db xref: MSH:D014202
has db xref: SNOMEDCT_US:25082004
has db xref: UMLS:C0234379
has exact synonym: Rest tremor
has exact synonym: Resting tremor
has exact synonym: Tremor at rest
has OBO namespace: human_phenotype
has related synonym: Parkinsonian tremor
id: HP:0002322
type: Class
comment: Resting tremor vanishes with active movement, but typically reappears after a few seconds when the arms are held outstretched (reemergent tremor). In Parkinson disease, rest tremor frequency is usually in the low to mid-range (3-6 Hz), and the amplitude is quite variable, from less than 1 cm to over 10 cm in width.
subclass of: Tremor
notation: HP:0002322

Anencephaly
tree view: HP_0007364
has db xref: Fyler:4332
has db xref: MSH:D000757
has db xref: SNOMEDCT_US:89369001
has db xref: UMLS:C0002902
has OBO namespace: human_phenotype
id: HP:0002323
type: Class
subclass of: HP_0007364
notation: HP:0002323

Hydranencephaly
tree view: Anencephaly
IAO_0000115: A defect of development of the brain characterized by replacement of greater portions of the cerebral hemispheres and the corpus striatum by cerebrospinal fluid (CSF) and glial tissue.
has db xref: MSH:D006832
has db xref: SNOMEDCT_US:30023002
has db xref: UMLS:C0020225
has exact synonym: Hydrancephaly
has OBO namespace: human_phenotype
id: HP:0002324
type: Class
subclass of: Anencephaly
notation: HP:0002324

HP_0002325
IAO_0000231: IAO_0000227
IAO_0100001: HP_0011449
type: Class
deprecated: true
notation: HP:0002325

Transient ischemic attack
tree view: Stroke
tree view: Cerebral ischemia
has db xref: MSH:D002546
has db xref: UMLS:C0917805
has exact synonym: Mini stroke
has exact synonym: TIA
has exact synonym: Transient ischemic attacks
has OBO namespace: human_phenotype
id: HP:0002326
type: Class
subclass of: Stroke
subclass of: Cerebral ischemia
notation: HP:0002326

HP_0002327
IAO_0000231: IAO_0000227
IAO_0100001: Dysarthria
type: Class
deprecated: true
notation: HP:0002327

HP_0002328
IAO_0000231: IAO_0000227
IAO_0100001: Dystonia
type: Class
deprecated: true
notation: HP:0002328

Drowsiness
tree view: Reduced consciousness/confusion
IAO_0000115: Excessive daytime sleepiness.
has db xref: MSH:D012894
has db xref: SNOMEDCT_US:271782001
has db xref: SNOMEDCT_US:79519003
has db xref: UMLS:C0013144
has exact synonym: Drowsiness
has exact synonym: Sleepy
has OBO namespace: human_phenotype
id: HP:0002329
type: Class
subclass of: Reduced consciousness/confusion
notation: HP:0002329

Paroxysmal drowsiness
tree view: Drowsiness
IAO_0000115: Attacks of disabling daytime drowsiness and low alertness.
has db xref: UMLS:C4025713
has OBO namespace: human_phenotype
id: HP:0002330
type: Class
subclass of: Drowsiness
notation: HP:0002330

Recurrent paroxysmal headache
tree view: Headache
IAO_0000115: Repeated episodes of headache with rapid onset, reaching a peak within minutes and of short duration (less than one hour) with pain that is throbbing, pulsating, or bursting in quality.
has db xref: UMLS:C1854337
has OBO namespace: human_phenotype
id: HP:0002331
type: Class
subclass of: Headache
notation: HP:0002331

Lack of peer relationships
tree view: Impaired social interactions
has db xref: UMLS:C1845337
has exact synonym: Lack of peer relationships
has OBO namespace: human_phenotype
id: HP:0002332
type: Class
subclass of: Impaired social interactions
notation: HP:0002332

Motor deterioration
tree view: Mental deterioration
IAO_0000115: Loss of previously present motor (i.e., movement) abilities.
has db xref: UMLS:C1866284
has exact synonym: Progressive degeneration of movement
has OBO namespace: human_phenotype
id: HP:0002333
type: Class
subclass of: Mental deterioration
notation: HP:0002333

Abnormality of the cerebellar vermis
tree view: Cerebellar malformation
IAO_0000115: An anomaly of the vermis of cerebellum.
has db xref: UMLS:C4025712
has OBO namespace: human_phenotype
id: HP:0002334
type: Class
comment: The cerebellar vermis is the unpaired, median portion of the cerebellum that connects the two hemispheres.
subclass of: Cerebellar malformation
notation: HP:0002334

Agenesis of cerebellar vermis
tree view: HP_0006817
IAO_0000115: Congenital absence of the vermis of cerebellum.
has alternative id: HP:0007125
has db xref: MSH:C536293
has db xref: SNOMEDCT_US:253175003
has db xref: SNOMEDCT_US:716997004
has db xref: UMLS:C0431399
has exact synonym: Cerebellar vermis aplasia
has OBO namespace: human_phenotype
id: HP:0002335
type: Class
subclass of: HP_0006817
notation: HP:0002335

HP_0002336
IAO_0000231: IAO_0000227
IAO_0100001: Delayed speech and language development
type: Class
deprecated: true
notation: HP:0002336

HP_0002337
IAO_0000231: IAO_0000227
IAO_0100001: HP_0100543
type: Class
deprecated: true
notation: HP:0002337

HP_0002338
IAO_0000231: IAO_0000227
IAO_0100001: Tetraparesis
type: Class
deprecated: true
notation: HP:0002338

Abnormal caudate nucleus morphology
tree view: HP_0010994
IAO_0000115: Any structural abnormality of the caudate nucleus.
has db xref: UMLS:C4025711
has exact synonym: Abnormality of the caudate nucleus
has OBO namespace: human_phenotype
id: HP:0002339
type: Class
comment: The caudate nucleus is an elongated crescent-shaped mass lying parallel and adjacent to the lateral ventricle throughout its extent.
subclass of: HP_0010994
notation: HP:0002339

Caudate atrophy
tree view: HP_0007374
has db xref: UMLS:C1858116
has exact synonym: Caudate degeneration
has OBO namespace: human_phenotype
id: HP:0002340
type: Class
subclass of: HP_0007374
notation: HP:0002340

Cervical cord compression
tree view: Spinal cord compression
IAO_0000115: Compression of the spinal cord in the cervical region, generally manifested by paresthesias and numbness, weakness, difficulty walking, abnormalities of coordination, and neck pain or stiffness.
has alternative id: HP:0007145
has db xref: UMLS:C0852866
has exact synonym: Cervical cord compression myelopathy
has OBO namespace: human_phenotype
id: HP:0002341
type: Class
subclass of: Spinal cord compression
notation: HP:0002341

Intellectual disability, moderate
tree view: Intellectual disability
IAO_0000115: Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 35-49.
has alternative id: HP:0007303
has db xref: SNOMEDCT_US:61152003
has db xref: UMLS:C0026351
has exact synonym: IQ between 34 and 49
has exact synonym: Mental retardation, moderate
has exact synonym: Moderate mental deficiency
has exact synonym: Moderate mental retardation
has OBO namespace: human_phenotype
id: HP:0002342
type: Class
subclass of: Intellectual disability
notation: HP:0002342

Normal pressure hydrocephalus
tree view: Hydrocephalus
IAO_0000115: A form of hydrocephalus characterized by enlarged cerebral ventricles and normal cerebrospinal fluid (CSF) pressure upon lumbar puncture.
has db xref: MSH:D006850
has db xref: SNOMEDCT_US:30753002
has db xref: UMLS:C0020258
has exact synonym: Normal-pressure hydrocephalus
has OBO namespace: human_phenotype
id: HP:0002343
type: Class
comment: Normal pressure hydrocephalus rarely occurs in patients younger than 60 years.
subclass of: Hydrocephalus
notation: HP:0002343

Progressive neurologic deterioration
tree view: Mental deterioration
has db xref: UMLS:C1854838
has exact synonym: Neurologic deterioration
has exact synonym: Neurologic deterioration, progressive
has exact synonym: Progressive mental deterioration
has exact synonym: Progressive neurodegeneration
has exact synonym: Worsening neurological symptoms
has OBO namespace: human_phenotype
id: HP:0002344
type: Class
subclass of: Mental deterioration
notation: HP:0002344

Action tremor
tree view: Tremor
IAO_0000115: A tremor present when the limbs are active, either when outstretched in a certain position or throughout a voluntary movement.
has db xref: MSH:D014202
has db xref: SNOMEDCT_US:30721006
has db xref: UMLS:C0234376
has db xref: UMLS:C4020853
has OBO namespace: human_phenotype
has related synonym: Ataxic tremor
id: HP:0002345
type: Class
comment: Action tremor occurs with voluntary contraction of muscle. Subforms of action tremor include postural, isometric, and kinetic tremors
subclass of: Tremor
notation: HP:0002345

Head tremor
tree view: HP_0030188
IAO_0000115: An unintentional, oscillating to-and-fro muscle movement affecting head movement.
has db xref: UMLS:C0239882
has exact synonym: Head tremor
has OBO namespace: human_phenotype
id: HP:0002346
type: Class
subclass of: HP_0030188
notation: HP:0002346

HP_0002347
IAO_0000231: IAO_0000227
IAO_0100001: HP_0006829
type: Class
deprecated: true
notation: HP:0002347

HP_0002348
IAO_0000231: IAO_0000227
IAO_0100001: Seizures
type: Class
deprecated: true
notation: HP:0002348

Focal aware seizure
tree view: HP_0007359
IAO_0000115: A type of focal-onset seizure in which awareness is preserved. Awareness during a seizure is defined as the patient being fully aware of themself and their environment throughout the seizure, even if immobile.
has db xref: MSH:D004828
has db xref: SNOMEDCT_US:117891000119100
has db xref: SNOMEDCT_US:79348005
has db xref: UMLS:C0234974
has exact synonym: Focal aware seizures
has exact synonym: Focal seizure with retained awareness
has exact synonym: Focal seizure without impairment of consciousness or awareness
has exact synonym: Focal seizures without impairment of consciousness or awareness
has exact synonym: Simple partial seizure
has exact synonym: Simple partial seizures
has OBO namespace: human_phenotype
id: HP:0002349
type: Class
comment: In the previous (1981) ILAE classification of seizure types, the term 'simple partial seizure' was used to denote a focal aware seizure.
subclass of: HP_0007359
notation: HP:0002349

Cerebellar cyst
tree view: Cerebellar malformation
tree view: HP_0010576
has db xref: UMLS:C1847762
has exact synonym: Cerebellar cysts
has OBO namespace: human_phenotype
id: HP:0002350
type: Class
subclass of: Cerebellar malformation
subclass of: HP_0010576
notation: HP:0002350

HP_0002351
IAO_0000231: IAO_0000227
IAO_0100001: HP_0007098
type: Class
deprecated: true
notation: HP:0002351

Leukoencephalopathy
tree view: Abnormality of the cerebrum
IAO_0000115: This term describes abnormality of the white matter of the cerebrum resulting from damage to the myelin sheaths of nerve cells.
has alternative id: HP:0006838
has alternative id: HP:0007073
has db xref: MSH:D056784
has db xref: SNOMEDCT_US:22811006
has db xref: UMLS:C0270612
has OBO namespace: human_phenotype
id: HP:0002352
type: Class
comment: This feature can be demonstrated by magnetic resonance imaging or computer tomography.
subclass of: Abnormality of the cerebrum
notation: HP:0002352

EEG abnormality
tree view: HP_0030178
IAO_0000115: Abnormality observed by electroencephalogram (EEG), which is used to record of the brain's spontaneous electrical activity from multiple electrodes placed on the scalp.
has alternative id: HP:0001346
has alternative id: HP:0002429
has alternative id: HP:0006841
has db xref: SNOMEDCT_US:274521009
has db xref: UMLS:C0151611
has exact synonym: Abnormal EEG
has exact synonym: Abnormal electroencephalogram
has exact synonym: EEG abnormalities
has exact synonym: Electroencephalogram abnormal
has exact synonym: Electroencephalogram abnormalities
has OBO namespace: human_phenotype
id: HP:0002353
type: Class
subclass of: HP_0030178
notation: HP:0002353

Memory impairment
tree view: HP_0100543
IAO_0000115: An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness.
has alternative id: HP:0000747
has alternative id: HP:0002081
has db xref: MSH:D008569
has db xref: SNOMEDCT_US:386807006
has db xref: SNOMEDCT_US:55533009
has db xref: UMLS:C0233794
has db xref: UMLS:C0542476
has db xref: UMLS:C0751295
has exact synonym: Forgetfulness
has exact synonym: Memory impairment
has exact synonym: Memory loss
has exact synonym: Memory problems
has exact synonym: Poor memory
has OBO namespace: human_phenotype
id: HP:0002354
type: Class
comment: Affected individuals tend to lose their train of thought in conversation, begin tasks but forget their intention while doing it, repeat things often during conversations, and have difficulties in tasks of daily living.
subclass of: HP_0100543
notation: HP:0002354

Difficulty walking
tree view: Gait disturbance
tree view: Functional motor deficit
IAO_0000115: Reduced ability to walk (ambulate).
has alternative id: HP:0007101
has alternative id: HP:0009030
has db xref: MSH:D051346
has db xref: SNOMEDCT_US:228158008
has db xref: UMLS:C0311394
has exact synonym: Difficulty in walking
has exact synonym: Difficulty walking
has exact synonym: Walking disability
has OBO namespace: human_phenotype
id: HP:0002355
type: Class
subclass of: Gait disturbance
subclass of: Functional motor deficit
notation: HP:0002355

Writer's cramp
tree view: Focal dystonia
IAO_0000115: A focal dystonia of the fingers, hand, and/or forearm that appears when the affected person attempts to do a task that requires fine motor movements such as writing or playing a musical instrument.
has db xref: MSH:D020821
has db xref: SNOMEDCT_US:52008007
has db xref: UMLS:C0154676
has exact synonym: Writer's cramp
has OBO namespace: human_phenotype
id: HP:0002356
type: Class
subclass of: Focal dystonia
notation: HP:0002356

Dysphasia
tree view: Neurological speech impairment
has db xref: MSH:D001037
has db xref: SNOMEDCT_US:20301004
has db xref: UMLS:C0973461
has OBO namespace: human_phenotype
id: HP:0002357
type: Class
subclass of: Neurological speech impairment
notation: HP:0002357

HP_0002358
IAO_0000231: IAO_0000227
IAO_0100001: HP_0007359
type: Class
deprecated: true
notation: HP:0002358

Frequent falls
tree view: Incoordination
tree view: Functional motor deficit
has db xref: UMLS:C0850703
has exact synonym: Frequent falls
has OBO namespace: human_phenotype
id: HP:0002359
type: Class
subclass of: Incoordination
subclass of: Functional motor deficit
notation: HP:0002359

Sleep disturbance
tree view: Behavioral abnormality
IAO_0000115: An abnormality of sleep including such phenomena as 1) insomnia/hypersomnia, 2) non-restorative sleep, 3) sleep schedule disorder, 4) excessive daytime somnolence, 5) sleep apnea, and 6) restlessness.
has db xref: SNOMEDCT_US:53888004
has db xref: UMLS:C0037317
has exact synonym: Difficulty sleeping
has exact synonym: Sleep disturbances
has exact synonym: Sleep dysfunction
has exact synonym: Trouble sleeping
has OBO namespace: human_phenotype
id: HP:0002360
type: Class
subclass of: Behavioral abnormality
notation: HP:0002360

Psychomotor deterioration
tree view: Mental deterioration
IAO_0000115: Loss of previously present mental and motor abilities.
has db xref: UMLS:C1836842
has exact synonym: Psychomotor degeneration
has OBO namespace: human_phenotype
id: HP:0002361
type: Class
subclass of: Mental deterioration
notation: HP:0002361

Shuffling gait
tree view: Gait disturbance
IAO_0000115: A type of gait (walking) characterized by by dragging one's feet along or without lifting the feet fully from the ground.
has db xref: MSH:D020233
has db xref: SNOMEDCT_US:43005009
has db xref: UMLS:C0231688
has exact synonym: Shuffled walk
has OBO namespace: human_phenotype
id: HP:0002362
type: Class
subclass of: Gait disturbance
notation: HP:0002362

Abnormality of brainstem morphology
tree view: HP_0012443
IAO_0000115: An anomaly of the brainstem.
has db xref: UMLS:C1850601
has exact synonym: Abnormal shape of brainstem
has exact synonym: Abnormality of the brainstem
has OBO namespace: human_phenotype
id: HP:0002363
type: Class
subclass of: HP_0012443
notation: HP:0002363

HP_0002364
IAO_0000231: IAO_0000227
IAO_0100001: Cerebellar atrophy
type: Class
deprecated: true
notation: HP:0002364

Hypoplasia of the brainstem
tree view: HP_0007362
IAO_0000115: Underdevelopment of the brainstem.
has db xref: UMLS:C1842688
has exact synonym: Brainstem hypoplasia
has exact synonym: Hypoplastic brain stem
has exact synonym: Hypoplastic brainstem
has exact synonym: Small brainstem
has exact synonym: Underdeveloped brainstem
has OBO namespace: human_phenotype
id: HP:0002365
type: Class
comment: This finding can be demonstrated by magnetic resonance imaging.
subclass of: HP_0007362
notation: HP:0002365

Abnormal lower motor neuron morphology
tree view: Abnormal peripheral nervous system morphology
tree view: Abnormal motor neuron morphology
IAO_0000115: Any structural anomaly of the lower motor neuron.
has alternative id: HP:0007276
has db xref: UMLS:C1865412
has exact synonym: Lower motor neuron disease
has exact synonym: Lower motor neuron manifestations
has exact synonym: Lower motor neuron signs
has OBO namespace: human_phenotype
id: HP:0002366
type: Class
comment: previous def: 'has part' some (quality and ('inheres in' some 'Lower motor neuron (adult human)') and ('has modifier' some abnormal))
subclass of: Abnormal peripheral nervous system morphology
subclass of: Abnormal motor neuron morphology
notation: HP:0002366

Visual hallucinations
tree view: Hallucinations
has db xref: MSH:D006212
has db xref: SNOMEDCT_US:64269007
has db xref: UMLS:C0233763
has exact synonym: Visual hallucinations
has OBO namespace: human_phenotype
id: HP:0002367
type: Class
subclass of: Hallucinations
notation: HP:0002367

HP_0002368
IAO_0000231: IAO_0000227
IAO_0100001: Behavioral abnormality
type: Class
deprecated: true
notation: HP:0002368

HP_0002369
IAO_0000231: IAO_0000227
IAO_0100001: Global brain atrophy
type: Class
deprecated: true
notation: HP:0002369

Poor coordination
tree view: Incoordination
has db xref: UMLS:C0563243
has exact synonym: Poor coordination
has OBO namespace: human_phenotype
id: HP:0002370
type: Class
subclass of: Incoordination
notation: HP:0002370

Loss of speech
tree view: Neurological speech impairment
has db xref: UMLS:C0542223
has exact synonym: Loss of speech
has OBO namespace: human_phenotype
id: HP:0002371
type: Class
subclass of: Neurological speech impairment
notation: HP:0002371

Normal interictal EEG
tree view: HP_0025373
IAO_0000115: Lack of observable abnormal electroencephalographic (EEG) patterns in an individual with a history of seizures. About half of individuals with epilepsy show interictal epileptiform discharges upon the first investigation. The yield can be increased by repeated studies, sleep studies, or by ambulatory EEG recordings over 24 hours. Normal interictal EEG is a sign that can be useful in the differential diagnosis.
has db xref: UMLS:C1843146
has OBO namespace: human_phenotype
id: HP:0002372
type: Class
subclass of: HP_0025373
notation: HP:0002372

Febrile seizures
tree view: Seizures
IAO_0000115: Febrile seizures are convulsions induced by a fever in infants or small children and are generally characterized by loss of consciousness and tonic-clonic movements. Most febrile seizures last a minute or two.
has alternative id: HP:0002175
has alternative id: HP:0007102
has db xref: MSH:D003294
has db xref: SNOMEDCT_US:41497008
has db xref: UMLS:C0009952
has exact synonym: Febrile convulsions
has exact synonym: Fever induced seizures
has exact synonym: Seizures, febrile, in early childhood
has exact synonym: Seizures, generalized, associated with fever
has OBO namespace: human_phenotype
id: HP:0002373
type: Class
subclass of: Seizures
notation: HP:0002373

Diminished movement
tree view: HP_0100022
has db xref: UMLS:C4025710
has exact synonym: Diminished movement
has OBO namespace: human_phenotype
id: HP:0002374
type: Class
subclass of: HP_0100022
notation: HP:0002374

Hypokinesia
tree view: Diminished movement
IAO_0000115: Abnormally diminished motor activity. In contrast to paralysis, hypokinesia is not characterized by a lack of motor strength, but rather by a poverty of movement. The typical habitual movements (e.g., folding the arms, crossing the legs) are reduced in frequency.
has alternative id: HP:0002603
has alternative id: HP:0006795
has db xref: MSH:D018476
has db xref: SNOMEDCT_US:255385008
has db xref: SNOMEDCT_US:43994002
has db xref: UMLS:C0086439
has exact synonym: Decreased muscle movement
has exact synonym: Decreased spontaneous movement
has exact synonym: Decreased spontaneous movements
has OBO namespace: human_phenotype
id: HP:0002375
type: Class
subclass of: Diminished movement
notation: HP:0002375

Developmental regression
tree view: HP_0012759
IAO_0000115: Loss of developmental skills, as manifested by loss of developmental milestones.
has alternative id: HP:0002471
has alternative id: HP:0002489
has alternative id: HP:0006797
has alternative id: HP:0006828
has alternative id: HP:0006854
has alternative id: HP:0007037
has alternative id: HP:0007242
has alternative id: HP:0007247
has db xref: SNOMEDCT_US:609225004
has db xref: UMLS:C1836550
has db xref: UMLS:C1836830
has db xref: UMLS:C1850493
has db xref: UMLS:C1855009
has db xref: UMLS:C1855019
has db xref: UMLS:C1855996
has db xref: UMLS:C1857121
has db xref: UMLS:C1859678
has exact synonym: Loss of developmental milestones
has exact synonym: Mental deterioration in childhood
has exact synonym: Neurodevelopmental regression
has exact synonym: Psychomotor regression
has exact synonym: Psychomotor regression beginning in infancy
has exact synonym: Psychomotor regression in infants
has exact synonym: Psychomotor regression, progressive
has OBO namespace: human_phenotype
id: HP:0002376
type: Class
comment: Developmental regression is said to occur when a child that has reached a certain psychomotor developmental stage starts to regress and to lose the acquired milestones.
subclass of: HP_0012759
notation: HP:0002376

obsolete Paraganglioma-related cranial nerve palsy
IAO_0000231: IAO_0000227
IAO_0100001: HP_0006824
IAO_0100001: HP:0006824
has OBO namespace: human_phenotype
id: HP:0002377
type: Class
deprecated: true
notation: HP:0002377

Hand tremor
tree view: HP_0030188
IAO_0000115: An unintentional, oscillating to-and-fro muscle movement affecting the hand.
has db xref: UMLS:C0239842
has exact synonym: Hand tremor
has exact synonym: Tremor of hand
has exact synonym: Tremor of hands
has exact synonym: tremors in hands
has OBO namespace: human_phenotype
id: HP:0002378
type: Class
subclass of: HP_0030188
notation: HP:0002378

HP_0002379
IAO_0000231: IAO_0000227
IAO_0100001: Gait ataxia
type: Class
deprecated: true
notation: HP:0002379

Fasciculations
tree view: Involuntary movements
IAO_0000115: Fasciculations are observed as small, local, involuntary muscle contractions (twitching) visible under the skin. Fasciculations result from increased irritability of an axon (which in turn is often a manifestation of disease of a motor neuron). This leads to sporadic discharges of all the muscle fibers controlled by the axon in isolation from other motor units.
has alternative id: HP:0002468
has alternative id: HP:0007092
has db xref: MSH:D005207
has db xref: SNOMEDCT_US:82470000
has db xref: UMLS:C0015644
has exact synonym: Fasciculation
has exact synonym: Muscle fasciculation
has exact synonym: Muscle twitch
has OBO namespace: human_phenotype
id: HP:0002380
type: Class
comment: This finding can be visible clinically and can be demonstrated by electromyography (EMG).
subclass of: Involuntary movements
notation: HP:0002380

Aphasia
tree view: Neurological speech impairment
IAO_0000115: An acquired language impairment of some or all of the abilities to produce or comprehend speech and to read or write.
has db xref: MSH:D001037
has db xref: SNOMEDCT_US:87486003
has db xref: UMLS:C0003537
has exact synonym: Difficulty finding words
has exact synonym: Losing words
has exact synonym: Loss of words
has OBO namespace: human_phenotype
id: HP:0002381
type: Class
comment: Aphasia is caused by brain injury. The most common cause is stroke, but aphasia can also be caused by other factors such as head trauma, brain tumors, or infections.
subclass of: Neurological speech impairment
notation: HP:0002381

HP_0002382
IAO_0000231: IAO_0000227
IAO_0100001: Intellectual disability
type: Class
deprecated: true
notation: HP:0002382

Encephalitis
tree view: HP_0011450
has db xref: MSH:D004660
has db xref: SNOMEDCT_US:45170000
has db xref: UMLS:C0014038
has exact synonym: Brain inflammation
has OBO namespace: human_phenotype
id: HP:0002383
type: Class
subclass of: HP_0011450
notation: HP:0002383

Focal impaired awareness seizure
tree view: HP_0007359
IAO_0000115: A type of focal-onset saeizure characterized by impaired awareness. Awareness during a seizure is defined as the patient being fully aware of themself and their environment throughout the seizure, even if immobile. If awareness is impaired at any point during the seizure, the seizure is a focal impaired awareness seizure. The degree of loss of awareness may vary.
has alternative id: HP:0002278
has alternative id: HP:0011146
has db xref: SNOMEDCT_US:4103001
has db xref: UMLS:C0149958
has db xref: UMLS:C0270834
has exact synonym: Complex focal seizures
has exact synonym: Complex partial seizures
has exact synonym: Dyscognitive seizures
has exact synonym: Focal impaired awareness seizures
has exact synonym: Focal seizures with impairment of consciousness or awareness
has OBO namespace: human_phenotype
has related synonym: Dialeptic seizure
id: HP:0002384
type: Class
comment: In the previous (1981) ILAE classification of seizure types, the term 'complex partial seizure' was used to denote a focal impaired awareness seizure. The term Dialeptic seizure referred to seizures that have as their main ictal manifestations an alteration of consciousness that is independent of ictal EEG manifestations. The term is no longer recommended according to the 2017 ILAE seizure classification.
subclass of: HP_0007359
notation: HP:0002384

Paraparesis
tree view: HP_0010551
IAO_0000115: Weakness or partial paralysis in the lower limbs.
has db xref: MSH:D020335
has db xref: SNOMEDCT_US:1845001
has db xref: UMLS:C0221166
has exact synonym: Partial paralysis of legs
has OBO namespace: human_phenotype
id: HP:0002385
type: Class
comment: Diseases of the spinal cord that affect motor function of the legs produce a gait characterized by both leg weakness and spasticity.
subclass of: HP_0010551
notation: HP:0002385

HP_0002386
IAO_0000231: IAO_0000227
IAO_0100001: Intellectual disability
type: Class
deprecated: true
notation: HP:0002386

HP_0002387
IAO_0000231: IAO_0000227
IAO_0100001: HP_0012332
type: Class
deprecated: true
notation: HP:0002387

HP_0002388
IAO_0000231: IAO_0000227
IAO_0100001: Hypertonia
type: Class
deprecated: true
notation: HP:0002388

Cavum septum pellucidum
tree view: HP_0007375
IAO_0000115: If the two laminae of the septum pellucidum are not fused then a fluid-filled space or cavum is present. The cavum septum pellucidum is present at birth but usually obliterates by the age of 3 to 6 months. It is up to 1cm in width and the walls are parallel. It is an enclosed space and is not part of the ventricular system or connected with the subarachnoid space.
has alternative id: HP:0006884
has alternative id: HP:0007091
has alternative id: HP:0007336
has db xref: UMLS:C1840380
has exact synonym: Large cavum septi pellucidi
has exact synonym: Persistent cavum septum pellucidum
has exact synonym: Widened cavum septum pellucidum
has OBO namespace: human_phenotype
id: HP:0002389
type: Class
subclass of: HP_0007375
notation: HP:0002389

Spinal arteriovenous malformation
tree view: Abnormality of the spinal cord
tree view: HP_0100026
has db xref: SNOMEDCT_US:261482004
has db xref: UMLS:C0348023
has OBO namespace: human_phenotype
id: HP:0002390
type: Class
subclass of: Abnormality of the spinal cord
subclass of: HP_0100026
notation: HP:0002390

HP_0002391
IAO_0000231: IAO_0000227
IAO_0100001: Seizures
type: Class
deprecated: true
notation: HP:0002391

EEG with polyspike wave complexes
tree view: HP_0010850
IAO_0000115: The presence of complexes of repetitive spikes and waves in EEG.
has db xref: UMLS:C4021757
has exact synonym: EEG: spike and multispike waves, 3-4 hz
has OBO namespace: human_phenotype
id: HP:0002392
type: Class
subclass of: HP_0010850
notation: HP:0002392

HP_0002393
IAO_0000231: IAO_0000227
IAO_0100001: Spastic tetraparesis
type: Class
deprecated: true
notation: HP:0002393

HP_0002394
IAO_0000231: IAO_0000227
IAO_0100001: HP_0030051
type: Class
deprecated: true
notation: HP:0002394

Lower limb hyperreflexia
tree view: Hyperreflexia
has alternative id: HP:0007245
has alternative id: HP:0007288
has db xref: UMLS:C1836696
has exact synonym: Brisk lower extremity reflexes
has exact synonym: Hyperreflexia in lower limbs
has exact synonym: Hyperreflexia in the lower limbs
has exact synonym: Increased deep tendon reflexes in the lower limbs
has exact synonym: Leg hyperreflexia
has exact synonym: Overactive lower leg reflex
has OBO namespace: human_phenotype
id: HP:0002395
type: Class
subclass of: Hyperreflexia
notation: HP:0002395

Cogwheel rigidity
tree view: Rigidity
IAO_0000115: A type of rigidity in which a muscle responds with cogwheellike jerks to the use of constant force in bending the limb (i.e., it gives way in little, repeated jerks when the muscle is passively stretched).
has db xref: MSH:D009127
has db xref: SNOMEDCT_US:55630000
has db xref: UMLS:C0151564
has OBO namespace: human_phenotype
id: HP:0002396
type: Class
comment: Cogwheel rigidity is a typical manifestation of Parkinson disease.
subclass of: Rigidity
notation: HP:0002396

HP_0002397
IAO_0000231: IAO_0000227
IAO_0100001: Chorea
type: Class
deprecated: true
notation: HP:0002397

Degeneration of anterior horn cells
tree view: HP_0006802
tree view: HP_0007373
has alternative id: HP:0007136
has alternative id: HP:0008312
has db xref: UMLS:C1843505
has exact synonym: Anterior horn cell loss
has exact synonym: Degeneration of alpha-motor neurons in anterior horn cells of the spinal cord
has exact synonym: Degeneration of spinal cord anterior horn cells
has exact synonym: Loss of spinal cord anterior horn cells
has exact synonym: Progressive loss of anterior horn cells
has exact synonym: Spinal cord anterior horn cell degeneration
has OBO namespace: human_phenotype
id: HP:0002398
type: Class
subclass of: HP_0006802
subclass of: HP_0007373
notation: HP:0002398

HP_0002399
IAO_0000231: IAO_0000227
IAO_0100001: Delayed speech and language development
type: Class
deprecated: true
notation: HP:0002399

HP_0002400
IAO_0000231: IAO_0000227
IAO_0100001: Neuronal loss in central nervous system
type: Class
deprecated: true
notation: HP:0002400

Stroke-like episode
tree view: Stroke
IAO_0000115: No consensus exists on what a stroke-like episode is, but these episodes can be functionally defined as a new neurological deficit, occurring with or without the context of seizures, which last longer than 24 hours.
has db xref: UMLS:C1857287
has exact synonym: Stroke-like episodes
has exact synonym: Strokelike episodes
has OBO namespace: human_phenotype
id: HP:0002401
type: Class
comment: Stroke-like episodes are phenotypic features predominantly of mitochondrial disorders, most frequently mitochondrial encephalopathy, lactacidosis, SLE (MELAS)-syndrome, and mimic the clinical manifestations of ischemic stroke to some extent.
subclass of: Stroke
notation: HP:0002401

HP_0002402
IAO_0000231: IAO_0000227
IAO_0100001: Intellectual disability
type: Class
deprecated: true
notation: HP:0002402

Positive Romberg sign
tree view: HP_0010831
IAO_0000115: The patient stands with the feet placed together and balance and is asked to close his or her eyes. A loss of balance upon eye closure is a positive Romberg sign and is interpreted as indicating a deficit in proprioception.
has db xref: SNOMEDCT_US:298310004
has db xref: UMLS:C0240914
has OBO namespace: human_phenotype
id: HP:0002403
type: Class
subclass of: HP_0010831
notation: HP:0002403

Thickened superior cerebellar peduncle
tree view: HP_0011932
IAO_0000115: Increased width of the superior cerebellar peduncle.
has db xref: UMLS:C4021756
has exact synonym: Thick cerebellar peduncles
has OBO namespace: human_phenotype
id: HP:0002404
type: Class
subclass of: HP_0011932
notation: HP:0002404

HP_0002405
IAO_0000231: IAO_0000227
IAO_0100001: Morphological abnormality of the central nervous system
type: Class
deprecated: true
notation: HP:0002405

Limb dysmetria
tree view: Dysmetria
IAO_0000115: A type of dysmetria involving the limbs.
has db xref: UMLS:C1854489
has db xref: UMLS:C4280577
has narrow synonym: Uncoordinated limb movement
has OBO namespace: human_phenotype
id: HP:0002406
type: Class
subclass of: Dysmetria
notation: HP:0002406

HP_0002407
IAO_0000231: IAO_0000227
IAO_0100001: Generalized tonic-clonic seizures
type: Class
deprecated: true
notation: HP:0002407

Cerebral arteriovenous malformation
tree view: HP_0100026
tree view: HP_0100659
IAO_0000115: An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the brain.
has db xref: Fyler:2201
has db xref: MSH:D002538
has db xref: SNOMEDCT_US:234142008
has db xref: UMLS:C0917804
has exact synonym: Cerebral AV malformation
has OBO namespace: human_phenotype
id: HP:0002408
type: Class
subclass of: HP_0100026
subclass of: HP_0100659
notation: HP:0002408

HP_0002409
IAO_0000231: IAO_0000227
IAO_0100001: Generalized-onset seizure
type: Class
deprecated: true
notation: HP:0002409

Aqueductal stenosis
tree view: Abnormality of the cerebral ventricles
IAO_0000115: Stenosis of the cerebral aqueduct (also known as the mesencephalic duct, aqueductus mesencephali, or aqueduct of Sylvius), which connects the third cerebral ventricle in the diencephalon to the fourth ventricle, which is between the pons and cerebellum.
has db xref: MSH:D006849
has db xref: UMLS:C2936786
has exact synonym: Aqueduct of Sylvius stenosis
has exact synonym: Aqueduct stenosis
has exact synonym: Narrowing of aqueduct of Sylvius
has OBO namespace: human_phenotype
id: HP:0002410
type: Class
subclass of: Abnormality of the cerebral ventricles
notation: HP:0002410

Myokymia
tree view: HP_0100022
IAO_0000115: Myokymia consists of involuntary, fine, continuous, undulating contractions that spread across the affected striated muscle.
has db xref: MSH:D020385
has db xref: SNOMEDCT_US:27678003
has db xref: UMLS:C0684219
has OBO namespace: human_phenotype
id: HP:0002411
type: Class
comment: Myokymia is characterized electrophysiologically by rhythmic or semi-rhythmic bursts of a single motor unit discharging several times a second at a rate of 3-8 Hz. These myokymic discharges are nonsynchronous in different muscles or even in the same muscle, with intervals of 100-200 milliseconds separating individual bursts. The spontaneous discharges are not initiated by voluntary movement, although they may increase with such activity.
subclass of: HP_0100022
notation: HP:0002411

HP_0002412
IAO_0000231: IAO_0000227
IAO_0100001: Paroxysmal dystonia
type: Class
deprecated: true
notation: HP:0002412

HP_0002413
IAO_0000231: IAO_0000227
IAO_0100001: Morphological abnormality of the central nervous system
type: Class
deprecated: true
notation: HP:0002413

Spina bifida
tree view: HP_0010301
IAO_0000115: Incomplete closure of the embryonic neural tube, whereby some vertebral arches remain unfused and open. The mildest form is spina bifida occulta, followed by meningocele and meningomyelocele.
has broad synonym: Split spine
has db xref: Fyler:4157
has db xref: MSH:D016135
has db xref: SNOMEDCT_US:67531005
has db xref: UMLS:C0080178
has OBO namespace: human_phenotype
id: HP:0002414
type: Class
subclass of: HP_0010301
notation: HP:0002414

Leukodystrophy
tree view: HP_0011400
IAO_0000115: Leukodystrophy refers to deterioration of white matter of the brain resulting from degeneration of myelin sheaths in the CNS. Their basic defect is directly related to the synthesis and maintenance of myelin membranes.
has db xref: SNOMEDCT_US:192781003
has db xref: UMLS:C0023520
has exact synonym: Degeneration of white matter of brain
has OBO namespace: human_phenotype
id: HP:0002415
type: Class
comment: The deterioration coincides with clinical regression of skills, and in the most severe cases neurological devastation. Leukodystrophy should be distinguished from leukoencephalopathy (defect causing secondary myelin damage). Note that the term leukodystrophy is most often used to refer to a disease rather than a phenotypic feature, and a more precise description is to be preferred if possible.
subclass of: HP_0011400
notation: HP:0002415

Subependymal cysts
tree view: Abnormality of the cerebral ventricles
tree view: HP_0010576
IAO_0000115: Cerebral cysts, usually located in the wall of the caudate nucleus or in the caudothalamic groove. They are found in up to 5.2% of all neonates, using transfontanellar ultrasound in the first days of life.
has db xref: UMLS:C1833431
has OBO namespace: human_phenotype
id: HP:0002416
type: Class
comment: In the vast majority of cases, a simple persistence of the germinal matrix is proposed to explain their presence in asymptomatic preterm neonates. Viral infections, mainly with CMV and rubella, are commonly found when the pseudocysts are associated with other abnormalities of the central nervous system. The pseudocysts are then often multilocular.
subclass of: Abnormality of the cerebral ventricles
subclass of: HP_0010576
notation: HP:0002416

HP_0002417
IAO_0000231: IAO_0000227
IAO_0100001: Seizures
type: Class
deprecated: true
notation: HP:0002417

Abnormality of midbrain morphology
tree view: HP_0012443
IAO_0000115: An abnormality of the midbrain, which has as its parts the tectum, cerebral peduncle, midbrain tegmentum and cerebral aqueduct.
has db xref: UMLS:C4021755
has exact synonym: Abnormal shape of midbrain
has exact synonym: Abnormality of the mesencephalon
has exact synonym: Abnormality of the midbrain
has OBO namespace: human_phenotype
id: HP:0002418
type: Class
subclass of: HP_0012443
notation: HP:0002418

Molar tooth sign on MRI
tree view: Abnormality of midbrain morphology
IAO_0000115: An abnormal appearance of the midbrain in axial magnetic resonance imaging in which the elongated superior cerebellar peduncles give the midbrain an appearance reminiscent of a molar or wisdom tooth.
has db xref: UMLS:C1865060
has exact synonym: 'molar tooth sign' on brain imaging'
has exact synonym: 'molar tooth' sign on imaging
has exact synonym: Molar tooth sign
has OBO namespace: human_phenotype
id: HP:0002419
type: Class
comment: Molar tooth appearance results from a lack of normal decussation of superior cerebellar peduncular fiber tracts which in turn leads to enlargement of the peduncles, which also follow a more horizontal course. The absence of crossing fibers also leads to a reduction in the anteroposterior diameter of the midbrain and deepening of the interpeduncular cistern.
subclass of: Abnormality of midbrain morphology
notation: HP:0002419

HP_0002420
IAO_0000231: IAO_0000227
IAO_0100001: HP_0100951
type: Class
deprecated: true
notation: HP:0002420

Poor head control
tree view: Muscle weakness
IAO_0000115: Difficulty to maintain correct position of the head while standing or sitting.
has db xref: UMLS:C1836038
has exact synonym: Poor head control
has OBO namespace: human_phenotype
id: HP:0002421
type: Class
subclass of: Muscle weakness
notation: HP:0002421

HP_0002422
IAO_0000231: IAO_0000227
IAO_0100001: Cerebral atrophy
type: Class
deprecated: true
notation: HP:0002422

Long-tract signs
tree view: Abnormality of the spinal cord
has db xref: UMLS:C1865903
has exact synonym: Long tract signs
has OBO namespace: human_phenotype
id: HP:0002423
type: Class
comment: Long-tract signs refer to symptoms that are attributable to the involvement of the long fiber tracts in the spinal cord, which connect the spinal cord to the brain and mediate spinal and motor functions.
subclass of: Abnormality of the spinal cord
notation: HP:0002423

HP_0002424
IAO_0000231: IAO_0000227
IAO_0100001: HP_0007333
type: Class
deprecated: true
notation: HP:0002424

Anarthria
tree view: Neurological speech impairment
IAO_0000115: A defect in the motor ability that enables speech.
has db xref: SNOMEDCT_US:48257004
has db xref: UMLS:C0234517
has exact synonym: Loss of articulate speech
has OBO namespace: human_phenotype
id: HP:0002425
type: Class
subclass of: Neurological speech impairment
notation: HP:0002425

HP_0002426
IAO_0000231: IAO_0000227
IAO_0100001: Dysdiadochokinesis
type: Class
deprecated: true
notation: HP:0002426

Motor aphasia
tree view: Aphasia
IAO_0000115: Impairment of expressive language and relative preservation of receptive language abilities. That is, the patient understands language (speech, writing) but cannot express it.
has db xref: MSH:D001039
has db xref: SNOMEDCT_US:229654003
has db xref: SNOMEDCT_US:229665008
has db xref: SNOMEDCT_US:328681008
has db xref: UMLS:C0003550
has db xref: UMLS:C0917814
has exact synonym: Broca's aphasia
has exact synonym: Expressive aphasia
has exact synonym: Loss of expressive speech
has OBO namespace: human_phenotype
id: HP:0002427
type: Class
subclass of: Aphasia
notation: HP:0002427

HP_0002428
IAO_0000231: IAO_0000227
IAO_0100001: Cataplexy
type: Class
deprecated: true
notation: HP:0002428

HP_0002429
IAO_0000231: IAO_0000227
IAO_0100001: EEG abnormality
type: Class
deprecated: true
notation: HP:0002429

HP_0002430
IAO_0000231: IAO_0000227
IAO_0100001: Seizures
type: Class
deprecated: true
notation: HP:0002430

HP_0002431
IAO_0000231: IAO_0000227
IAO_0100001: Seizures
type: Class
deprecated: true
notation: HP:0002431

HP_0002432
IAO_0000231: IAO_0000227
IAO_0100001: Seizures
type: Class
deprecated: true
notation: HP:0002432

HP_0002433
IAO_0000231: IAO_0000227
IAO_0100001: Global developmental delay
type: Class
deprecated: true
notation: HP:0002433

HP_0002434
IAO_0000231: IAO_0000227
IAO_0100001: Seizures
type: Class
deprecated: true
notation: HP:0002434

Meningocele
tree view: Spina bifida
tree view: HP_0010651
IAO_0000115: Protrusion of the meninges through a defect of the vertebral column.
has db xref: MSH:D008588
has db xref: SNOMEDCT_US:171131006
has db xref: UMLS:C0025299
has OBO namespace: human_phenotype
id: HP:0002435
type: Class
subclass of: Spina bifida
subclass of: HP_0010651
notation: HP:0002435

Occipital meningocele
tree view: Meningocele
IAO_0000115: A herniation of meninges through a congenital bone defect in the skull in the occipital region.
has db xref: SNOMEDCT_US:445468002
has db xref: UMLS:C1848652
has OBO namespace: human_phenotype
id: HP:0002436
type: Class
subclass of: Meningocele
notation: HP:0002436

HP_0002437
IAO_0000231: IAO_0000227
IAO_0100001: Seizures
type: Class
deprecated: true
notation: HP:0002437

Cerebellar malformation
tree view: Abnormal cerebellum morphology
has db xref: UMLS:C4025708
has OBO namespace: human_phenotype
id: HP:0002438
type: Class
subclass of: Abnormal cerebellum morphology
notation: HP:0002438

Frontolimbic dementia
tree view: Dementia
has db xref: UMLS:C1836151
has OBO namespace: human_phenotype
id: HP:0002439
type: Class
subclass of: Dementia
notation: HP:0002439

HP_0002440
IAO_0000231: IAO_0000227
IAO_0100001: HP_0007099
type: Class
deprecated: true
notation: HP:0002440

HP_0002441
IAO_0000231: IAO_0000227
IAO_0100001: HP_0100543
type: Class
deprecated: true
notation: HP:0002441

Dyscalculia
tree view: Specific learning disability
IAO_0000115: A specific learning disability involving mathematics and arithmetic.
has broad synonym: Difficulty making arithmetical calculations
has db xref: SNOMEDCT_US:47916000
has db xref: UMLS:C1411876
has db xref: UMLS:C4280576
has OBO namespace: human_phenotype
id: HP:0002442
type: Class
subclass of: Specific learning disability
notation: HP:0002442

HP_0002443
IAO_0000231: IAO_0000227
IAO_0100001: HP_0012286
type: Class
deprecated: true
notation: HP:0002443

Hypothalamic hamartoma
tree view: HP_0009731
tree view: HP_0012286
IAO_0000115: The presence of a hamartoma of the hypothalamus.
has db xref: MSH:C537158
has db xref: SNOMEDCT_US:237714006
has db xref: UMLS:C0342418
has OBO namespace: human_phenotype
id: HP:0002444
type: Class
comment: Hypothalamic hamartoma is a malformation, not a tumor. Hypothalamic hamartomas grow at the rate of, or slower than, the surrounding brain tissue. A hamartoma of the hypothalamus appears as a non-enhancing mass in the floor of the third ventricle posterior to the optic chiasm that is isointense to grey matter on T1 and T2 pulse sequences of an MRI, but may have distinct intensity on FLAIR (neither cranial CT examination nor cranial ultrasound examination is adequate for diagnosis of hypothalamic hamartom). Individuals with hypothalamic hamartomas may have neurologic symptoms, although most are asymptomatic. Removal of the hypothalamic hamartoma is not indicated and often results in iatrogenic pituitary insufficiency.
subclass of: HP_0009731
subclass of: HP_0012286
notation: HP:0002444

Tetraplegia
tree view: HP_0030182
IAO_0000115: Paralysis of all four limbs, and trunk of the body below the level of an associated injury to the spinal cord. The etiology of quadriplegia is similar to that of paraplegia except that the lesion is in the cervical spinal cord rather than in the thoracic or lumbar segments of the spinal cord.
has alternative id: HP:0010552
has db xref: MSH:D011782
has db xref: SNOMEDCT_US:11538006
has db xref: UMLS:C0034372
has exact synonym: Paralysis of all four limbs
has exact synonym: Quadriplegia
has OBO namespace: human_phenotype
id: HP:0002445
type: Class
subclass of: HP_0030182
notation: HP:0002445

Astrocytosis
tree view: HP_0100705
IAO_0000115: Proliferation of astrocytes in the area of a lesion of the central nervous system.
has broad synonym: Increase in astrocyte number
has db xref: MSH:D005911
has db xref: SNOMEDCT_US:81415000
has db xref: UMLS:C3887640
has OBO namespace: human_phenotype
id: HP:0002446
type: Class
subclass of: HP_0100705
notation: HP:0002446

HP_0002447
IAO_0000231: IAO_0000227
IAO_0100001: Ventriculomegaly
type: Class
deprecated: true
notation: HP:0002447

Progressive encephalopathy
tree view: Encephalopathy
has broad synonym: Progressive brain disease
has db xref: UMLS:C1838578
has db xref: UMLS:C4280575
has OBO namespace: human_phenotype
id: HP:0002448
type: Class
subclass of: Encephalopathy
notation: HP:0002448

HP_0002449
IAO_0000231: IAO_0000227
IAO_0100001: HP_0008947
type: Class
deprecated: true
notation: HP:0002449

Abnormal motor neuron morphology
tree view: HP_0012757
IAO_0000115: Any structural anomaly that affects the motor neuron.
has db xref: UMLS:C4025707
has exact synonym: Abnormal shape of motor neuron
has OBO namespace: human_phenotype
id: HP:0002450
type: Class
subclass of: HP_0012757
notation: HP:0002450

Limb dystonia
tree view: Dystonia
IAO_0000115: A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the limbs.
has db xref: MSH:D004421
has db xref: UMLS:C0751093
has OBO namespace: human_phenotype
id: HP:0002451
type: Class
subclass of: Dystonia
notation: HP:0002451

HP_0002452
IAO_0000231: IAO_0000227
IAO_0100001: Stroke
type: Class
deprecated: true
notation: HP:0002452

Abnormal globus pallidus morphology
tree view: Abnormality of the basal ganglia
IAO_0000115: An abnormality of the globus pallidus.
has alternative id: HP:0007040
has db xref: UMLS:C4025706
has OBO namespace: human_phenotype
id: HP:0002453
type: Class
comment: The globus pallidus is a cerebral nucleus located medially to the putamen and laterally to the internal capsule.
subclass of: Abnormality of the basal ganglia
notation: HP:0002453

Eye of the tiger anomaly of globus pallidus
tree view: Abnormal globus pallidus morphology
IAO_0000115: The presence, on T2-weighted magnetic resonance imaging, of markedly low signal intensity if the globus pallidus that surrounds a central region of high signal intensity in the anteromedial globus pallidus, producing an eye-of-the-tiger appearance.
has db xref: UMLS:C4025705
has OBO namespace: human_phenotype
id: HP:0002454
type: Class
comment: This sign is observed upon magnetic resonance tomography (MRI). It can be seen in several diseases including Hallervorden-Spatz syndrome, where the pathophysiology has been hypothesized to be related to iron deposition in the globus pallidus (associated with low signal intensity on T2-weighted images) accompanied by other pathological processes such as gliosis and water accumulation that are responsible for the high signal intensity at the central globus pallidus.
subclass of: Abnormal globus pallidus morphology
notation: HP:0002454

HP_0002455
IAO_0000231: IAO_0000227
IAO_0100001: HP_0008994
type: Class
deprecated: true
notation: HP:0002455

HP_0002456
IAO_0000231: IAO_0000227
IAO_0100001: Behavioral abnormality
type: Class
deprecated: true
notation: HP:0002456

Abnormal head movements
tree view: HP_0100022
has db xref: SNOMEDCT_US:271799000
has db xref: UMLS:C0476217
has exact synonym: Abnormal head movements
has OBO namespace: human_phenotype
id: HP:0002457
type: Class
subclass of: HP_0100022
notation: HP:0002457

HP_0002458
IAO_0000231: IAO_0000227
IAO_0100001: Intellectual disability
type: Class
deprecated: true
notation: HP:0002458

obsolete Dysautonomia
IAO_0000231: IAO_0000227
IAO_0100001: HP_0012332
IAO_0100001: HP:0012332
has OBO namespace: human_phenotype
id: HP:0002459
type: Class
deprecated: true
notation: HP:0002459

Distal muscle weakness
tree view: Muscle weakness
IAO_0000115: Reduced strength of the musculature of the distal extremities.
has alternative id: HP:0002598
has alternative id: HP:0002935
has alternative id: HP:0003497
has alternative id: HP:0006940
has alternative id: HP:0009008
has db xref: SNOMEDCT_US:249942005
has db xref: UMLS:C0427065
has db xref: UMLS:C1864696
has exact synonym: Distal limb muscle weakness
has exact synonym: Distal limb weakness
has exact synonym: Distal muscular weakness
has exact synonym: Distal paresis
has exact synonym: Muscle weakness, distal
has exact synonym: Muscle weakness, distal limbs, due to neuronopathy
has exact synonym: Weakness of distal muscles
has exact synonym: Weakness of outermost muscles
has OBO namespace: human_phenotype
has related synonym: Distal limb muscle weakness due to peripheral neuropathy
id: HP:0002460
type: Class
comment: Typically, at onset the lower limbs are more affected than upper limbs. The distribution of weakness is often roughly symmetric.
subclass of: Muscle weakness
notation: HP:0002460

Dense calcifications in the cerebellar dentate nucleus
tree view: HP_0007352
tree view: HP_0100321
has db xref: UMLS:C1859273
has OBO namespace: human_phenotype
id: HP:0002461
type: Class
subclass of: HP_0007352
subclass of: HP_0100321
notation: HP:0002461

HP_0002462
IAO_0000231: IAO_0000227
IAO_0100001: Global brain atrophy
type: Class
deprecated: true
notation: HP:0002462

Language impairment
tree view: HP_0011446
IAO_0000115: Language impairment is a deficit in comprehension or production of language that includes reduced vocabulary, limited sentence structure or impairments in written or spoken communication. Language abilities are substantially and quantifiably below age expectations.
has db xref: MSH:D007806
has db xref: SNOMEDCT_US:62305002
has db xref: UMLS:C0023015
has exact synonym: Language impairment
has OBO namespace: human_phenotype
has related synonym: Language disorder
id: HP:0002463
type: Class
subclass of: HP_0011446
notation: HP:0002463

Spastic dysarthria
tree view: Spasticity
tree view: Dysarthria
IAO_0000115: A type of dysarthria related to bilateral damage of the upper motor neuron tracts of the pyramidal and extra- pyramidal tracts. Speech of affected individuals is slow, effortful, and has a harsh vocal quality.
has db xref: MSH:D004401
has db xref: SNOMEDCT_US:229684006
has db xref: UMLS:C0454596
has exact synonym: Rigid dysarthria
has OBO namespace: human_phenotype
id: HP:0002464
type: Class
subclass of: Spasticity
subclass of: Dysarthria
notation: HP:0002464

Poor speech
tree view: Neurological speech impairment
has broad synonym: Problems speaking
has db xref: UMLS:C1848207
has db xref: UMLS:C4280574
has exact synonym: Poor speech
has OBO namespace: human_phenotype
has related synonym: Difficulty speaking
id: HP:0002465
type: Class
subclass of: Neurological speech impairment
notation: HP:0002465

HP_0002466
IAO_0000231: IAO_0000227
IAO_0100001: Seizures
type: Class
deprecated: true
notation: HP:0002466

HP_0002467
IAO_0000231: IAO_0000227
IAO_0100001: Hyporeflexia
type: Class
deprecated: true
notation: HP:0002467

HP_0002468
IAO_0000231: IAO_0000227
IAO_0100001: Fasciculations
type: Class
deprecated: true
notation: HP:0002468

HP_0002469
IAO_0000231: IAO_0000227
IAO_0100001: Choreoathetosis
type: Class
deprecated: true
notation: HP:0002469

Nonprogressive cerebellar ataxia
tree view: Ataxia
has db xref: UMLS:C1845029
has OBO namespace: human_phenotype
id: HP:0002470
type: Class
subclass of: Ataxia
notation: HP:0002470

HP_0002471
IAO_0000231: IAO_0000227
IAO_0100001: Developmental regression
type: Class
deprecated: true
notation: HP:0002471

Small cerebral cortex
tree view: Abnormality of the cerebral cortex
IAO_0000115: Reduced size of the cerebral cortex.
has alternative id: HP:0006791
has alternative id: HP:0007151
has db xref: UMLS:C1837503
has exact synonym: Decreased volume of cerebral cortex
has OBO namespace: human_phenotype
id: HP:0002472
type: Class
subclass of: Abnormality of the cerebral cortex
notation: HP:0002472

HP_0002473
IAO_0000231: IAO_0000227
IAO_0100001: Global developmental delay
type: Class
deprecated: true
notation: HP:0002473

Expressive language delay
tree view: Delayed speech and language development
IAO_0000115: A delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts.
has alternative id: HP:0007192
has broad synonym: Communication delay
has db xref: SNOMEDCT_US:229734008
has db xref: UMLS:C0454641
has db xref: UMLS:C1847610
has db xref: UMLS:C4280573
has exact synonym: Deficit in expressive language
has OBO namespace: human_phenotype
id: HP:0002474
type: Class
subclass of: Delayed speech and language development
notation: HP:0002474

Myelomeningocele
tree view: Meningocele
IAO_0000115: Protrusion of the meninges and portions of the spinal cord through a defect of the vertebral column.
has db xref: Fyler:4309
has db xref: MSH:D008591
has db xref: SNOMEDCT_US:203994003
has db xref: SNOMEDCT_US:414667000
has db xref: UMLS:C0025312
has exact synonym: Meningomyelocele
has exact synonym: Spina bifida cystica
has OBO namespace: human_phenotype
id: HP:0002475
type: Class
comment: Meningomyelocele can result if more than one or two vertebral bodies are affected by spina bifida. The meningomyelocele is usually covered by a thin, vulnerable membrane. Meningomyelocele is generally accompanied by neurological deficits.
subclass of: Meningocele
notation: HP:0002475

Primitive reflex
tree view: HP_0031826
IAO_0000115: The primitive reflexes are a group of behavioural motor responses which are found in normal early development, are subsequently inhibited, but may be released from inhibition by cerebral, usually frontal, damage. They are thus part of a broader group of reflexes which reflect release phenomena, such as exaggerated stretch reflexes and extensor plantars. They do however involve more complex motor responses than such simple stretch reflexes, and are often a normal feature in the neonate or infant.
has db xref: UMLS:C1838319
has exact synonym: Archaic reflex
has exact synonym: Primitive reflexes
has OBO namespace: human_phenotype
id: HP:0002476
type: Class
subclass of: HP_0031826
notation: HP:0002476

HP_0002477
IAO_0000231: IAO_0000227
IAO_0100001: HP_0007340
type: Class
deprecated: true
notation: HP:0002477

Progressive spastic quadriplegia
tree view: Progressive spasticity
has db xref: UMLS:C1859736
has exact synonym: Progressive spastic quadriparesis
has OBO namespace: human_phenotype
id: HP:0002478
type: Class
subclass of: Progressive spasticity
notation: HP:0002478

HP_0002479
IAO_0000231: IAO_0000227
IAO_0100001: Seizures
type: Class
deprecated: true
notation: HP:0002479

Hepatic encephalopathy
tree view: Encephalopathy
IAO_0000115: Central nervous system dysfunction in association with liver failure and characterized clinically (depending on degree of severity) by lethargy, confusion, nystagmus, decorticate posturing, spasticity, and bilateral Babinski reflexes.
has db xref: MSH:D006501
has db xref: SNOMEDCT_US:13920009
has db xref: SNOMEDCT_US:449902003
has db xref: UMLS:C0019151
has OBO namespace: human_phenotype
id: HP:0002480
type: Class
subclass of: Encephalopathy
notation: HP:0002480

HP_0002481
IAO_0000231: IAO_0000227
IAO_0100001: Morphological abnormality of the central nervous system
type: Class
deprecated: true
notation: HP:0002481

HP_0002482
IAO_0000231: IAO_0000227
IAO_0100001: Intellectual disability
type: Class
deprecated: true
notation: HP:0002482

Bulbar signs
tree view: HP_0012638
has db xref: UMLS:C1856507
has OBO namespace: human_phenotype
id: HP:0002483
type: Class
subclass of: HP_0012638
notation: HP:0002483

HP_0002484
IAO_0000231: IAO_0000227
IAO_0100001: Distal amyotrophy
type: Class
deprecated: true
notation: HP:0002484

HP_0002485
IAO_0000231: IAO_0000227
IAO_0100001: Basal ganglia calcification
type: Class
deprecated: true
notation: HP:0002485

Myotonia
tree view: HP_0011804
IAO_0000115: An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation.
has alternative id: HP:0003632
has alternative id: HP:0003754
has alternative id: HP:0003792
has db xref: MSH:D009222
has db xref: SNOMEDCT_US:3434004
has db xref: UMLS:C0027125
has exact synonym: Delayed relaxation of muscle fibers after contraction
has OBO namespace: human_phenotype
id: HP:0002486
type: Class
comment: Patients often describe myotonia as stiffness that is worse at the onset of activity and that improves with repeated muscle contractions. Myotonia tends to worsen in cold weather. Myotonia can be elicited by voluntary muscle contraction of by muscle percussion (e.g., by tapping the thenar eminence). During physical examination, myotonia may be elicited by asking the patient to make a tight fist and then quickly open the hand. Myotonia is caused by an abnormality in the muscle membrane, i.e., of the ion channels that control the contraction of muscle fibers.
subclass of: HP_0011804
notation: HP:0002486

Hyperkinesis
tree view: HP_0100022
IAO_0000115: Motor hyperactivity with excessive movement of muscles of the body as a whole.
has db xref: MSH:D006948
has db xref: MSH:D013035
has db xref: SNOMEDCT_US:44548000
has db xref: SNOMEDCT_US:45352006
has db xref: UMLS:C0037763
has db xref: UMLS:C0424295
has exact synonym: Hyperkinesia
has exact synonym: Muscle spasms
has OBO namespace: human_phenotype
id: HP:0002487
type: Class
subclass of: HP_0100022
notation: HP:0002487

Acute leukemia
tree view: Leukemia
IAO_0000115: A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts).
created by: peter
creation date: 2008-03-27T10:32:00Z
has broad synonym: Acute blood cancer
has db xref: SNOMEDCT_US:24072005
has db xref: SNOMEDCT_US:91855006
has db xref: UMLS:C0085669
has db xref: UMLS:C4280572
has exact synonym: Acute leukemias
has OBO namespace: human_phenotype
id: HP:0002488
type: Class
subclass of: Leukemia
notation: HP:0002488

HP_0002489
IAO_0000231: IAO_0000227
IAO_0100001: Developmental regression
type: Class
deprecated: true
notation: HP:0002489

Increased CSF lactate
tree view: HP_0030085
IAO_0000115: Increased concentration of lactate in the cerebrospinal fluid.
has db xref: UMLS:C1167918
has exact synonym: Hyperlactatorachia
has exact synonym: Increased CSF lactic acid
has exact synonym: Increased cerebrospinal fluid lactate
has OBO namespace: human_phenotype
id: HP:0002490
type: Class
subclass of: HP_0030085
notation: HP:0002490

Spasticity of facial muscles
tree view: Abnormality of facial musculature
tree view: Spasticity
IAO_0000115: Spasticity of one or more muscles innervated by the facial nerve.
has alternative id: HP:0000313
has db xref: UMLS:C1853404
has db xref: UMLS:C4280570
has db xref: UMLS:C4280571
has exact synonym: Spasticity of the facial muscles
has narrow synonym: Increased stiffness of facial muscles
has narrow synonym: Increased tone of facial muscles
has OBO namespace: human_phenotype
id: HP:0002491
type: Class
comment: Spasticity of facial muscles can result in slow oral movements that are imprecise and require a lot of effort.
subclass of: Abnormality of facial musculature
subclass of: Spasticity
notation: HP:0002491

Abnormality of the corticospinal tract
tree view: Morphological abnormality of the pyramidal tract
IAO_0000115: Abnormality of the corticospinal tract, which is the chief element of the pyramidal system (the principle motor tract) and is the only direct connection between the cerebrum and the spinal cord.
has alternative id: HP:0006912
has db xref: UMLS:C4020852
has db xref: UMLS:C4025704
has OBO namespace: human_phenotype
has related synonym: Involvement of the corticospinal pathways
id: HP:0002492
type: Class
subclass of: Morphological abnormality of the pyramidal tract
notation: HP:0002492

Upper motor neuron dysfunction
tree view: HP_0011442
IAO_0000115: A functional anomaly of the upper motor neuron. The upper motor neurons are neurons of the primary motor cortex which project to the brainstem and spinal chord via the corticonuclear, corticobulbar and corticospinal (pyramidal) tracts. They are involved in control of voluntary movements. Dysfunction leads to weakness, impairment of fine motor movements, spasticity, hyperreflexia and abnormal pyramidal signs.
has db xref: UMLS:C1504405
has db xref: UMLS:C1839042
has exact synonym: Corticospinal tract dysfunction
has exact synonym: Pyramidal tract dysfunction
has OBO namespace: human_phenotype
id: HP:0002493
type: Class
comment: A functional deficit of the tract that conveys nervous impulses from the motor cortex of the brain to the spinal cord. The corticospinal tract mediates discrete voluntary skilled movements. Clinical features of corticospinal tract dysfunction may include spasticity and weakness, particularly affecting the lower limbs, as well as hyperreflexia, clonus at the ankles and knees, and extensor plantar responses (Babinski response).
subclass of: HP_0011442
notation: HP:0002493

Abnormal rapid eye movement sleep
tree view: Sleep disturbance
IAO_0000115: Abnormality of REM sleep. Phases of REM sleep are characterized by desynchronized EEG patterns, increases in heart rate and blood pressure, sympathetic activation, and a profound loss of muscle tonus except for the eye and middle-ear muscles. There are then phases of rapid eye movements.
has db xref: SNOMEDCT_US:69020003
has db xref: UMLS:C0392188
has exact synonym: Abnormal REM sleep
has OBO namespace: human_phenotype
id: HP:0002494
type: Class
subclass of: Sleep disturbance
notation: HP:0002494

Impaired vibratory sensation
tree view: Sensory impairment
IAO_0000115: A decrease in the ability to perceive vibration. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to bony prominences such as the malleoli at the ankles or the metacarpal-phalangeal joints. There is a slow decay of vibration from the tuning fork. The degree of vibratory sense loss can be crudely estimated by counting the number of seconds that the examiner can perceive the vibration longer than the patient.
has alternative id: HP:0006836
has alternative id: HP:0007116
has db xref: SNOMEDCT_US:130980003
has db xref: UMLS:C1295585
has exact synonym: Decreased vibration sense
has exact synonym: Decreased vibratory sense
has exact synonym: Diminished vibratory sense
has exact synonym: Impaired vibratory sensation
has exact synonym: Impaired vibratory sense
has OBO namespace: human_phenotype
id: HP:0002495
type: Class
comment: Impaired vibratory sensation may suggesti involvement of the posterior column-medial lemniscus pathway, which is responsible for transmitting fine touch, vibration and conscious proprioceptive information from the body to the cerebral cortex.
subclass of: Sensory impairment
notation: HP:0002495

HP_0002496
IAO_0000231: IAO_0000227
IAO_0100001: Progressive cerebellar ataxia
type: Class
deprecated: true
notation: HP:0002496

Spastic ataxia
tree view: Ataxia
has db xref: MSH:C564815
has db xref: UMLS:C1849156
has OBO namespace: human_phenotype
id: HP:0002497
type: Class
subclass of: Ataxia
notation: HP:0002497

HP_0002498
IAO_0000231: IAO_0000227
IAO_0100001: Delayed speech and language development
type: Class
deprecated: true
notation: HP:0002498

HP_0002499
IAO_0000231: IAO_0000227
IAO_0100001: Intellectual disability
type: Class
deprecated: true
notation: HP:0002499

Abnormality of the cerebral white matter
tree view: HP_0010993
IAO_0000115: An abnormality of the cerebral white matter.
has alternative id: HP:0200100
has db xref: MSH:D049292
has db xref: UMLS:C0948163
has db xref: UMLS:C4020851
has exact synonym: Abnormality of subcortical white matter
has exact synonym: Cerebral white matter abnormalities
has exact synonym: Leukoaraiosis
has exact synonym: White matter abnormalities
has exact synonym: White matter alterations
has OBO namespace: human_phenotype
has related synonym: Cortical white matter abnormalities seen on MRI
id: HP:0002500
type: Class
comment: This finding can be demonstrated by magnetic resonance imaging, especially with t2 signalling. The cerebral white matter is the region of the central nervous system that consists mostly of glial cells and myelinated axons that interconnect the various regions of the cerebrum and the lower brain centers. It is located in the subcortex.
subclass of: HP_0010993
notation: HP:0002500

Spasticity of pharyngeal muscles
tree view: Spasticity
has db xref: UMLS:C1853398
has OBO namespace: human_phenotype
id: HP:0002501
type: Class
subclass of: Spasticity
notation: HP:0002501

HP_0002502
IAO_0000231: IAO_0000227
IAO_0100001: Cerebral calcification
type: Class
deprecated: true
notation: HP:0002502

Spinocerebellar tract degeneration
tree view: Abnormality of the spinocerebellar tracts
has db xref: UMLS:C1866751
has exact synonym: Degeneration of the spinocerebellar tracts
has exact synonym: Spinocerebellar degeneration
has OBO namespace: human_phenotype
id: HP:0002503
type: Class
subclass of: Abnormality of the spinocerebellar tracts
notation: HP:0002503

Calcification of the small brain vessels
tree view: HP_0009145
tree view: HP_0031306
IAO_0000115: Deposition of calcium salts within small blood vessels of the brain.
has db xref: UMLS:C4025703
has OBO namespace: human_phenotype
id: HP:0002504
type: Class
comment: This finding can be made upon neuropathologic examination.
subclass of: HP_0009145
subclass of: HP_0031306
notation: HP:0002504

Progressive inability to walk
tree view: Inability to walk
has db xref: UMLS:C1836843
has exact synonym: Progressive inability to walk
has OBO namespace: human_phenotype
id: HP:0002505
type: Class
subclass of: Inability to walk
notation: HP:0002505

Diffuse cerebral atrophy
tree view: Cerebral atrophy
IAO_0000115: Diffuse unlocalised atrophy affecting the cerebrum.
has alternative id: HP:0006954
has db xref: UMLS:C0598275
has exact synonym: Cerebral atrophy, diffuse
has OBO namespace: human_phenotype
id: HP:0002506
type: Class
subclass of: Cerebral atrophy
notation: HP:0002506

Semilobar holoprosencephaly
tree view: Holoprosencephaly
IAO_0000115: A type of holoprosencephaly in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly.
has db xref: MSH:D016142
has db xref: SNOMEDCT_US:253138008
has db xref: UMLS:C0751617
has OBO namespace: human_phenotype
id: HP:0002507
type: Class
subclass of: Holoprosencephaly
notation: HP:0002507

Brainstem dysplasia
tree view: Abnormality of brainstem morphology
IAO_0000115: A developmental structural anomaly of the stalk-like part of the brain that comprises the midbrain (aka mesencephalon), the pons (aka pons Varolii), and the medulla oblongata, and connects the cerebral hemispheres with the cervical spinal cord.
has alternative id: HP:0006991
has db xref: UMLS:C1855677
has exact synonym: Brainstem hypoplasia/dysplasia
has exact synonym: Malformation of brainstem structures
has OBO namespace: human_phenotype
id: HP:0002508
type: Class
subclass of: Abnormality of brainstem morphology
notation: HP:0002508

Limb hypertonia
tree view: Hypertonia
tree view: HP_0009127
has db xref: UMLS:C1838391
has exact synonym: Increased muscle tone of arm or leg
has OBO namespace: human_phenotype
id: HP:0002509
type: Class
subclass of: Hypertonia
subclass of: HP_0009127
notation: HP:0002509

Spastic tetraplegia
tree view: Spasticity
IAO_0000115: Spastic paralysis affecting all four limbs.
has alternative id: HP:0001280
has db xref: MSH:D011782
has db xref: SNOMEDCT_US:192965001
has db xref: UMLS:C0426970
has exact synonym: Spastic quadriplegia
has OBO namespace: human_phenotype
id: HP:0002510
type: Class
subclass of: Spasticity
notation: HP:0002510

Alzheimer disease
tree view: Morphological abnormality of the central nervous system
IAO_0000115: A degenerative disease of the brain characterized by the insidious onset of dementia. Impairment of memory, judgment, attention span, and problem solving skills are followed by severe apraxia and a global loss of cognitive abilities. The condition primarily occurs after age 60, and is marked pathologically by severe cortical atrophy and the triad of senile plaques, neurofibrillary tangles, and neuropil threads.
has alternative id: HP:0006878
has alternative id: HP:0007213
has db xref: MSH:C536595
has db xref: MSH:D000544
has db xref: SNOMEDCT_US:230267005
has db xref: SNOMEDCT_US:26929004
has db xref: UMLS:C0002395
has db xref: UMLS:C1863051
has exact synonym: Alzheimer disease
has exact synonym: Late-onset form of familial Alzheimer disease
has OBO namespace: human_phenotype
id: HP:0002511
type: Class
comment: Note that this is a bundled term that refers to a disease rather than to phenotypic features. It is retained for convenience since Alzheimer disease is used for annotation of other diseases (e.g., Down syndrome) as if it were a feature. If possible it is preferable to annotate with the precise phenotypic features.
subclass of: Morphological abnormality of the central nervous system
notation: HP:0002511

Brain stem compression
tree view: Abnormality of brainstem morphology
has db xref: SNOMEDCT_US:25816005
has db xref: SNOMEDCT_US:5582005
has db xref: UMLS:C0270680
has OBO namespace: human_phenotype
id: HP:0002512
type: Class
subclass of: Abnormality of brainstem morphology
notation: HP:0002512

HP_0002513
IAO_0000231: IAO_0000227
IAO_0100001: Ataxia
type: Class
deprecated: true
notation: HP:0002513

Cerebral calcification
tree view: Abnormality of the cerebrum
tree view: HP_0010766
IAO_0000115: The presence of calcium deposition within brain structures.
has alternative id: HP:0002502
has alternative id: HP:0005806
has alternative id: HP:0006848
has db xref: SNOMEDCT_US:17944005
has db xref: UMLS:C0270685
has exact synonym: Abnormal deposits of calcium in the brain
has exact synonym: Brain calcification
has exact synonym: Intracerebral calcifications
has exact synonym: Intracranial calcification
has exact synonym: Intracranial calcifications
has OBO namespace: human_phenotype
id: HP:0002514
type: Class
comment: This finding can be demonstrated upon cerebral computer tomography, magnetic resonance imaging, or potentially by standard radiography of the skull.
subclass of: Abnormality of the cerebrum
subclass of: HP_0010766
notation: HP:0002514

Waddling gait
tree view: Gait disturbance
IAO_0000115: Weakness of the hip girdle and upper thigh muscles, for instance in myopathies, leads to an instability of the pelvis on standing and walking. If the muscles extending the hip joint are affected, the posture in that joint becomes flexed and lumbar lordosis increases. The patients usually have difficulties standing up from a sitting position. Due to weakness in the gluteus medius muscle, the hip on the side of the swinging leg drops with each step (referred to as Trendelenburg sign). The gait appears waddling. The patients frequently attempt to counteract the dropping of the hip on the swinging side by bending the trunk towards the side which is in the stance phase (in the German language literature this is referred to as Duchenne sign). Similar gait patterns can be caused by orthopedic conditions when the origin and the insertion site of the gluteus medius muscle are closer to each other than normal, for instance due to a posttraumatic elevation of the trochanter or pseudarthrosis of the femoral neck.
has db xref: MSH:D020233
has db xref: SNOMEDCT_US:271706000
has db xref: UMLS:C0231712
has exact synonym: 'Waddling' gait
has exact synonym: Waddling walk
has OBO namespace: human_phenotype
id: HP:0002515
type: Class
subclass of: Gait disturbance
notation: HP:0002515

Increased intracranial pressure
tree view: HP_0012640
IAO_0000115: An increase of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid.
has db xref: MSH:D019586
has db xref: SNOMEDCT_US:271719001
has db xref: UMLS:C0151740
has exact synonym: Intracranial hypertension
has exact synonym: Intracranial pressure elevation
has exact synonym: Rise in pressure inside skull
has OBO namespace: human_phenotype
id: HP:0002516
type: Class
comment: Normal values of intracranial pressure in adults are around 7-15 mm Hg in the supine position. The term pseudotumor cerebri (also: idiopathic intracranial hypertension or benign intracranial hypertension) is the presence of increased intracranial pressure in the absence of a brain tumor or other identifiable cause. It should be coded using this term and negations of appropriate other HPO terms. Increased intracranial pressure can damage tissue, contribute to hydrocephalus, cause brain herniation, and restrict blood supply to the brain.
subclass of: HP_0012640
notation: HP:0002516

HP_0002517
IAO_0000231: IAO_0000227
IAO_0100001: HP_0010628
type: Class
deprecated: true
notation: HP:0002517

Abnormality of the periventricular white matter
tree view: Leukoencephalopathy
tree view: Abnormality of the cerebral white matter
has db xref: UMLS:C2673431
has OBO namespace: human_phenotype
has related synonym: Periventricular white matter abnormalities
id: HP:0002518
type: Class
subclass of: Leukoencephalopathy
subclass of: Abnormality of the cerebral white matter
notation: HP:0002518

Hypnagogic hallucinations
tree view: Hallucinations
has db xref: MSH:D006212
has db xref: SNOMEDCT_US:44780000
has db xref: UMLS:C0233773
has OBO namespace: human_phenotype
id: HP:0002519
type: Class
subclass of: Hallucinations
notation: HP:0002519

HP_0002520
IAO_0000231: IAO_0000227
IAO_0100001: HP_0011400
type: Class
deprecated: true
notation: HP:0002520

Hypsarrhythmia
tree view: HP_0011198
IAO_0000115: Hypsarrhythmia is abnormal interictal high amplitude waves and a background of irregular spikes. There is continuous (during wakefulness), high-amplitude (>200 Hz), generalized polymorphic slowing with no organized background and multifocal spikes demonstrated by electroencephalography (EEG).
has db xref: MSH:D013036
has db xref: SNOMEDCT_US:28055006
has db xref: UMLS:C0684276
has exact synonym: Hypsarrhythmia by EEG
has OBO namespace: human_phenotype
id: HP:0002521
type: Class
subclass of: HP_0011198
notation: HP:0002521

Areflexia of lower limbs
tree view: Areflexia
tree view: Abnormality of the lower limb
IAO_0000115: Inability to elicit tendon reflexes in the lower limbs.
has db xref: UMLS:C1856694
has exact synonym: Absent lower limb tendon reflexes
has exact synonym: Areflexia in lower limbs
has exact synonym: Areflexia of the lower limbs
has exact synonym: Areflexia, lower limbs
has OBO namespace: human_phenotype
id: HP:0002522
type: Class
subclass of: Areflexia
subclass of: Abnormality of the lower limb
notation: HP:0002522

HP_0002523
IAO_0000231: IAO_0000227
IAO_0100001: HP_0008947
type: Class
deprecated: true
notation: HP:0002523

Cataplexy
tree view: HP_0012638
IAO_0000115: A sudden and transient episode of bilateral loss of muscle tone, often triggered by emotions.
has alternative id: HP:0002428
has alternative id: HP:0002525
has db xref: MSH:D002385
has db xref: SNOMEDCT_US:46263000
has db xref: UMLS:C0007384
has OBO namespace: human_phenotype
id: HP:0002524
type: Class
comment: Cataplexy is a frequent feature of narcolepsy, a neurologic disorder characterized by excessive daytime sleepiness and manifestations of disrupted rapid eye movement sleep stage.
subclass of: HP_0012638
notation: HP:0002524

HP_0002525
IAO_0000231: IAO_0000227
IAO_0100001: Cataplexy
type: Class
deprecated: true
notation: HP:0002525

Deficit in nonword repetition
tree view: Neurological speech impairment
IAO_0000115: Impaired ability to repeat non-word sounds. Nonword repetition (NWR) is a measure of short-term phonological memory.
has db xref: UMLS:C4025702
has OBO namespace: human_phenotype
id: HP:0002526
type: Class
subclass of: Neurological speech impairment
notation: HP:0002526

Falls
tree view: Gait disturbance
has db xref: SNOMEDCT_US:161898004
has db xref: SNOMEDCT_US:1912002
has db xref: UMLS:C0085639
has exact synonym: Falls
has OBO namespace: human_phenotype
id: HP:0002527
type: Class
subclass of: Gait disturbance
notation: HP:0002527

Granulovacuolar degeneration
tree view: Abnormality of the cerebrum
has db xref: SNOMEDCT_US:90506004
has db xref: UMLS:C0333454
has OBO namespace: human_phenotype
id: HP:0002528
type: Class
comment: Degeneration of hippocampal cells characterized by basophilic granules surrounded by a clear zone in hippocampal neurons. Frequently occurs in Alzheimers disease.
subclass of: Abnormality of the cerebrum
notation: HP:0002528

Neuronal loss in central nervous system
tree view: HP_0007367
has alternative id: HP:0002400
has db xref: UMLS:C1850496
has exact synonym: Loss of brain cells
has exact synonym: Neuronal loss
has exact synonym: Neuronal loss in CNS
has OBO namespace: human_phenotype
id: HP:0002529
type: Class
comment: This finding can be demonstrated by neuropathology.
subclass of: HP_0007367
notation: HP:0002529

Axial dystonia
tree view: Dystonia
IAO_0000115: A type of dystonia that affects the midline muscles, i.e., the chest, abdominal, and back muscles.
has db xref: UMLS:C1836149
has OBO namespace: human_phenotype
id: HP:0002530
type: Class
subclass of: Dystonia
notation: HP:0002530

HP_0002531
IAO_0000231: IAO_0000227
IAO_0100001: Abnormal nervous system electrophysiology
type: Class
deprecated: true
notation: HP:0002531

HP_0002532
IAO_0000231: IAO_0000227
IAO_0100001: Global developmental delay
type: Class
deprecated: true
notation: HP:0002532

Abnormal posturing
tree view: HP_0100022
IAO_0000115: Involuntary flexion or extension of the arms and legs.
has db xref: SNOMEDCT_US:43029002
has db xref: UMLS:C0231471
has OBO namespace: human_phenotype
id: HP:0002533
type: Class
subclass of: HP_0100022
notation: HP:0002533

HP_0002534
IAO_0000231: IAO_0000227
IAO_0100001: Limb muscle weakness
type: Class
deprecated: true
notation: HP:0002534

HP_0002535
IAO_0000231: IAO_0000227
IAO_0100001: Myoclonus
type: Class
deprecated: true
notation: HP:0002535

Abnormal cortical gyration
tree view: Abnormality of neuronal migration
tree view: Abnormality of the cerebral cortex
IAO_0000115: An abnormality of the gyri (i.e., the ridges) of the cerebral cortex of the brain.
has alternative id: HP:0006900
has db xref: UMLS:C1856019
has exact synonym: Abnormal gyration
has exact synonym: Cerebral gyral anomalies
has OBO namespace: human_phenotype
id: HP:0002536
type: Class
subclass of: Abnormality of neuronal migration
subclass of: Abnormality of the cerebral cortex
notation: HP:0002536

HP_0002537
IAO_0000231: IAO_0000227
IAO_0100001: Lissencephaly
type: Class
deprecated: true
notation: HP:0002537

Abnormality of the cerebral cortex
tree view: Abnormality of the cerebrum
IAO_0000115: An abnormality of the cerebral cortex.
has db xref: UMLS:C4025701
has OBO namespace: human_phenotype
id: HP:0002538
type: Class
subclass of: Abnormality of the cerebrum
notation: HP:0002538

Cortical dysplasia
tree view: Abnormality of the cerebral cortex
IAO_0000115: The presence of developmental dysplasia of the cerebral cortex.
has alternative id: HP:0007139
has db xref: MSH:D054220
has db xref: SNOMEDCT_US:253153000
has db xref: UMLS:C0431380
has exact synonym: Neocortical dysplasia
has OBO namespace: human_phenotype
id: HP:0002539
type: Class
subclass of: Abnormality of the cerebral cortex
notation: HP:0002539

Inability to walk
tree view: Gait disturbance
IAO_0000115: Incapability to ambulate.
has db xref: SNOMEDCT_US:282145008
has db xref: UMLS:C0560046
has exact synonym: Inability to walk
has exact synonym: Non-ambulatory
has OBO namespace: human_phenotype
id: HP:0002540
type: Class
subclass of: Gait disturbance
notation: HP:0002540

HP_0002541
IAO_0000231: IAO_0000227
IAO_0100001: HP_0011448
type: Class
deprecated: true
notation: HP:0002541

Olivopontocerebellar atrophy
tree view: Abnormal cerebellum morphology
IAO_0000115: Neuronal degeneration in the cerebellum, pontine nuclei, and inferior olivary nucleus.
has alternative id: HP:0005683
has db xref: MSH:D009849
has db xref: SNOMEDCT_US:67761004
has db xref: UMLS:C0028968
has exact synonym: Olivopontocerebellar degeneration
has OBO namespace: human_phenotype
id: HP:0002542
type: Class
subclass of: Abnormal cerebellum morphology
notation: HP:0002542

HP_0002543
IAO_0000231: IAO_0000227
IAO_0100001: Intellectual disability
type: Class
deprecated: true
notation: HP:0002543

Retrocollis
tree view: Torticollis
IAO_0000115: A form of torticollis in which the head is drawn back, either due to a permanent contractures of neck extensor muscles, or to a spasmodic contracture.
has db xref: UMLS:C3887667
has OBO namespace: human_phenotype
id: HP:0002544
type: Class
comment: Retrocollis is a spasmodic form of torticollis in which the head is drawn back.
subclass of: Torticollis
notation: HP:0002544

Patchy demyelination of subcortical white matter
tree view: HP_0007305
IAO_0000115: Patchy loss of myelin from nerve fibers in the central nervous system.
has db xref: UMLS:C1857638
has OBO namespace: human_phenotype
id: HP:0002545
type: Class
subclass of: HP_0007305
notation: HP:0002545

Incomprehensible speech
tree view: Neurological speech impairment
has db xref: UMLS:C1838027
has exact synonym: Incomprehensible speech
has OBO namespace: human_phenotype
id: HP:0002546
type: Class
subclass of: Neurological speech impairment
notation: HP:0002546

HP_0002547
IAO_0000231: IAO_0000227
IAO_0100001: EMG: neuropathic changes
type: Class
deprecated: true
notation: HP:0002547

Parkinsonism with favorable response to dopaminergic medication
tree view: Parkinsonism
IAO_0000115: Parkinsonism is a clinical syndrome that is a feature of a number of different diseases, including Parkinson disease itself, other neurodegenerative diseases such as progressive supranuclear palsy, and as a side-effect of some neuroleptic medications. Some but not all individuals with Parkinsonism show responsiveness to dopaminergic medication defined as a substantial reduction of amelioration of the component signs of Parkinsonism (including mainly tremor, bradykinesia, rigidity, and postural instability) upon administration of dopaminergic medication.
has db xref: UMLS:C1846868
has OBO namespace: human_phenotype
has related synonym: Favorable response to levodopa
id: HP:0002548
type: Class
subclass of: Parkinsonism
notation: HP:0002548

Deficit in phonologic short-term memory
tree view: Memory impairment
has db xref: UMLS:C1847609
has OBO namespace: human_phenotype
id: HP:0002549
type: Class
subclass of: Memory impairment
notation: HP:0002549

Absent facial hair
tree view: Absent hair
IAO_0000115: Absence of facial hair.
has db xref: UMLS:C1848192
has exact synonym: Absent facial hair
has OBO namespace: human_phenotype
id: HP:0002550
type: Class
subclass of: Absent hair
notation: HP:0002550

HP_0002551
IAO_0000231: IAO_0000227
IAO_0100001: Hypotrichosis
type: Class
deprecated: true
notation: HP:0002551

Trichodysplasia
tree view: Abnormal hair morphology
IAO_0000115: Developmental dysplasia of the hair.
has alternative id: HP:0004515
has db xref: UMLS:C4020850
has db xref: UMLS:C4025700
has OBO namespace: human_phenotype
has related synonym: Generalized trichodysplasia
id: HP:0002552
type: Class
subclass of: Abnormal hair morphology
notation: HP:0002552

Highly arched eyebrow
tree view: Abnormal eyebrow morphology
IAO_0000115: Increased height of the central portion of the eyebrow, forming a crescent, semicircular, or inverted U shape.
has alternative id: HP:0001584
has alternative id: HP:0004533
has alternative id: HP:0007681
has alternative id: HP:0007804
has alternative id: HP:0008505
has db xref: UMLS:C1868571
has db xref: UMLS:C4020849
has exact synonym: Arched eyebrows
has exact synonym: Broad, arched eyebrows
has exact synonym: High, rounded eyebrows
has exact synonym: High-arched eyebrows
has exact synonym: Highly arched eyebrow
has exact synonym: Thick, flared eyebrows
has OBO namespace: human_phenotype
has related synonym: Bowed and upward slanting eyebrows
has related synonym: High arched eyebrows
id: HP:0002553
in subset: hposlim core
type: Class
comment: Most eyebrows have some arch with downturning medially and laterally.
subclass of: Abnormal eyebrow morphology
notation: HP:0002553

HP_0002554
IAO_0000231: IAO_0000227
IAO_0100001: Sparse and thin eyebrow
type: Class
deprecated: true
notation: HP:0002554

Absent pubic hair
tree view: Absent hair
tree view: HP_0100133
IAO_0000115: Absence of pubic hair.
has alternative id: HP:0004537
has alternative id: HP:0004556
has db xref: UMLS:C1859391
has exact synonym: Absent pubic hair
has OBO namespace: human_phenotype
id: HP:0002555
in subset: hposlim core
type: Class
subclass of: Absent hair
subclass of: HP_0100133
notation: HP:0002555

HP_0002556
IAO_0000231: IAO_0000227
IAO_0100001: Sparse scalp hair
type: Class
deprecated: true
notation: HP:0002556

Hypoplastic nipples
tree view: HP_0006709
IAO_0000115: Underdevelopment of the nipple.
has alternative id: HP:0002560
has alternative id: HP:0003188
has alternative id: HP:0006652
has db xref: SNOMEDCT_US:268290005
has db xref: UMLS:C0432355
has exact synonym: Nipple hypoplasia
has exact synonym: Small nipples
has OBO namespace: human_phenotype
id: HP:0002557
type: Class
subclass of: HP_0006709
notation: HP:0002557

Supernumerary nipple
tree view: Abnormal nipple morphology
IAO_0000115: Presence of more than two nipples.
has alternative id: HP:0002559
has db xref: Fyler:4234
has db xref: MSH:C562557
has db xref: SNOMEDCT_US:50956007
has db xref: UMLS:C0266011
has exact synonym: Accessory nipple
has exact synonym: Increased nipple number
has exact synonym: accessory mamilla
has OBO namespace: human_phenotype
has related synonym: Accessory nipples
has related synonym: Supernumerary nipples
has related synonym: accessory mamillas
id: HP:0002558
in subset: hposlim core
type: Class
subclass of: Abnormal nipple morphology
notation: HP:0002558

HP_0002559
IAO_0000231: IAO_0000227
IAO_0100001: Supernumerary nipple
type: Class
deprecated: true
notation: HP:0002559

HP_0002560
IAO_0000231: IAO_0000227
IAO_0100001: Hypoplastic nipples
type: Class
deprecated: true
notation: HP:0002560

Absent nipple
tree view: HP_0006709
IAO_0000115: Congenital failure to develop, and absence of, the nipple.
has db xref: SNOMEDCT_US:248820000
has db xref: UMLS:C0425795
has exact synonym: Absent nipple
has exact synonym: Absent nipples
has exact synonym: Athelia
has OBO namespace: human_phenotype
id: HP:0002561
type: Class
comment: This finding can be unilateral or bilateral.
subclass of: HP_0006709
notation: HP:0002561

Low-set nipples
tree view: Abnormal nipple morphology
IAO_0000115: Placement of the nipples at a lower than normal location.
has db xref: UMLS:C1836933
has exact synonym: Low-set nipples
has OBO namespace: human_phenotype
id: HP:0002562
in subset: hposlim core
type: Class
subclass of: Abnormal nipple morphology
notation: HP:0002562

Constrictive pericarditis
tree view: Pericarditis
IAO_0000115: Presence of a thickened, fibrotic pericardium that forms a non-compliant shell around the heart, and resulting from chronic inflammation of the pericardium.
has db xref: MSH:D010494
has db xref: SNOMEDCT_US:85598007
has db xref: UMLS:C0031048
has OBO namespace: human_phenotype
id: HP:0002563
type: Class
subclass of: Pericarditis
notation: HP:0002563

obsolete Malformation of the heart and great vessels
IAO_0000231: IAO_0000227
IAO_0100001: HP_0030680
IAO_0100001: HP:0030680
has OBO namespace: human_phenotype
id: HP:0002564
type: Class
deprecated: true
notation: HP:0002564

HP_0002565
IAO_0000231: IAO_0000227
IAO_0100001: HP_0030680
type: Class
deprecated: true
notation: HP:0002565

Intestinal malrotation
tree view: Abnormal intestine morphology
IAO_0000115: An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis.
has alternative id: HP:0002026
has db xref: MEDDRA:10064024
has db xref: MSH:C562456
has db xref: SNOMEDCT_US:253789002
has db xref: SNOMEDCT_US:29980002
has db xref: SNOMEDCT_US:48641006
has db xref: UMLS:C0221210
has exact synonym: Malrotation
has OBO namespace: human_phenotype
has related synonym: Gut malrotation
id: HP:0002566
in subset: hposlim core
type: Class
subclass of: Abnormal intestine morphology
notation: HP:0002566

HP_0002567
IAO_0000231: IAO_0000227
IAO_0100001: HP_0005224
type: Class
deprecated: true
notation: HP:0002567

HP_0002568
IAO_0000231: IAO_0000227
IAO_0100001: HP_0008872
type: Class
deprecated: true
notation: HP:0002568

HP_0002569
IAO_0000231: IAO_0000227
IAO_0100001: Dysphagia
type: Class
deprecated: true
notation: HP:0002569

Steatorrhea
tree view: Fat malabsorption
IAO_0000115: Greater than normal amounts of fat in the feces. This is a result of malabsorption of lipids in the small intestine and results in frothy foul-smelling fecal matter that floats.
has db xref: MSH:D045602
has db xref: SNOMEDCT_US:27868004
has db xref: SNOMEDCT_US:66187002
has db xref: UMLS:C0038238
has exact synonym: Fat in feces
has OBO namespace: human_phenotype
id: HP:0002570
type: Class
subclass of: Fat malabsorption
notation: HP:0002570

Achalasia
tree view: HP_0031857
IAO_0000115: A disorder of esophageal motility characterized by the inability of the lower esophageal sphincter to relax during swallowing and by inadequate or lacking peristalsis in the lower half of the body of the esophagus.
has db xref: MEDDRA:10030136
has db xref: MSH:D004931
has db xref: SNOMEDCT_US:45564002
has db xref: UMLS:C0014848
has exact synonym: Achalasia of the esophagus
has OBO namespace: human_phenotype
id: HP:0002571
in subset: hposlim core
type: Class
comment: Achalasia may lead to regurgitation of food, chest pain, cough, and difficulty swallowing.
subclass of: HP_0031857
notation: HP:0002571

Episodic vomiting
tree view: Vomiting
IAO_0000115: Paroxysmal, recurrent episodes of vomiting.
has db xref: UMLS:C1838993
has db xref: UMLS:C1857202
has exact synonym: Episodic vomiting
has OBO namespace: human_phenotype
has related synonym: Frequent vomiting
id: HP:0002572
type: Class
subclass of: Vomiting
notation: HP:0002572

Hematochezia
tree view: Gastrointestinal hemorrhage
tree view: HP_0025085
IAO_0000115: The passage of fresh (red) blood per anus, usually in or with stools. Most rectal bleeding comes from the colon, rectum, or anus.
has alternative id: HP:0002255
has alternative id: HP:0002609
has db xref: MSH:D006471
has db xref: SNOMEDCT_US:236068001
has db xref: SNOMEDCT_US:405729008
has db xref: UMLS:C0018932
has exact synonym: Rectal bleeding
has OBO namespace: human_phenotype
has related synonym: Recurrent rectal bleeding
id: HP:0002573
type: Class
comment: Bright red blood in stool, most frequentoly caused by hemorrhoids or diverticulosis.
subclass of: Gastrointestinal hemorrhage
subclass of: HP_0025085
notation: HP:0002573

Episodic abdominal pain
tree view: Abdominal pain
tree view: HP_0032148
IAO_0000115: An intermittent form of abdominal pain.
has db xref: UMLS:C0262527
has db xref: UMLS:C3808022
has OBO namespace: human_phenotype
has related synonym: Intermittent abdominal pain
id: HP:0002574
type: Class
subclass of: Abdominal pain
subclass of: HP_0032148
notation: HP:0002574

Tracheoesophageal fistula
tree view: Abnormal esophagus morphology
tree view: Abnormal trachea morphology
IAO_0000115: An abnormal connection (fistula) between the esophagus and the trachea.
has broad synonym: Abnormal connection between trachea and esophagus
has db xref: Fyler:4202
has db xref: MEDDRA:10044310
has db xref: MSH:D014138
has db xref: SNOMEDCT_US:95435007
has db xref: UMLS:C0040588
has OBO namespace: human_phenotype
id: HP:0002575
in subset: hposlim core
type: Class
subclass of: Abnormal esophagus morphology
subclass of: Abnormal trachea morphology
notation: HP:0002575

Intussusception
tree view: Abnormal intestine morphology
IAO_0000115: An abnormality of the intestine in which part of the intestine invaginates (telescopes) into another part of the intestine.
has db xref: MEDDRA:10022863
has db xref: MSH:D007443
has db xref: SNOMEDCT_US:35327006
has db xref: SNOMEDCT_US:49723003
has db xref: UMLS:C0021933
has OBO namespace: human_phenotype
id: HP:0002576
in subset: hposlim core
type: Class
comment: Intussusception can lead to intestinal obstruction as well as to the interruption of the blood supply to the intestine. It can affect small or large bowel.
subclass of: Abnormal intestine morphology
notation: HP:0002576

Abnormality of the stomach
tree view: HP_0012718
IAO_0000115: An abnormality of the stomach.
has db xref: UMLS:C4025699
has OBO namespace: human_phenotype
id: HP:0002577
type: Class
comment: The stomach the hollow, muscular organ of the gastrointestinal tract between the esophagus and the small intestine.
subclass of: HP_0012718
notation: HP:0002577

Gastroparesis
tree view: Abnormality of the stomach
tree view: HP_0011804
IAO_0000115: Decreased strength of the muscle layer of stomach, which leads to a decreased ability to empty the contents of the stomach despite the absence of obstruction.
has db xref: MSH:D018589
has db xref: SNOMEDCT_US:196753007
has db xref: SNOMEDCT_US:235675006
has db xref: UMLS:C0152020
has exact synonym: Delayed gastric emptying
has OBO namespace: human_phenotype
id: HP:0002578
in subset: hposlim core
type: Class
subclass of: Abnormality of the stomach
subclass of: HP_0011804
notation: HP:0002578

Gastrointestinal dysmotility
tree view: HP_0030895
IAO_0000115: Abnormal intestinal contractions, such as spasms and intestinal paralysis, related to the loss of the ability of the gut to coordinate muscular activity because of endogenous or exogenous causes.
has db xref: UMLS:C1836923
has exact synonym: GI dysmotility
has OBO namespace: human_phenotype
id: HP:0002579
in subset: hposlim core
type: Class
subclass of: HP_0030895
notation: HP:0002579

Volvulus
tree view: Abnormal intestine morphology
IAO_0000115: Abnormal twisting of a portion of intestine around itself or around a stalk of mesentery tissue.
has db xref: MSH:D045822
has db xref: SNOMEDCT_US:90738007
has db xref: SNOMEDCT_US:9707006
has db xref: UMLS:C0042961
has OBO namespace: human_phenotype
id: HP:0002580
type: Class
comment: Volvulus can lead to intestinal obstruction and ischemia.
subclass of: Abnormal intestine morphology
notation: HP:0002580

HP_0002581
IAO_0000231: IAO_0000227
IAO_0100001: Exocrine pancreatic insufficiency
type: Class
deprecated: true
notation: HP:0002581

Chronic atrophic gastritis
tree view: HP_0005231
IAO_0000115: A form of chronic gastritis associated with atrophic gastric mucous membrane.
has db xref: MSH:D005757
has db xref: SNOMEDCT_US:84568007
has db xref: UMLS:C0017154
has OBO namespace: human_phenotype
id: HP:0002582
type: Class
comment: Over time, chronic gastritis leads to atrophy of the gastric mucosa. Thus, chronic atrophc gastritis can represent an end stage of chronic gastritis.
subclass of: HP_0005231
notation: HP:0002582

Colitis
tree view: Inflammation of the large intestine
IAO_0000115: Colitis refers to an inflammation of the colon and is often used to describe an inflammation of the large intestine (colon, cecum and rectum). Colitides may be acute and self-limited or chronic, and broadly fit into the category of digestive diseases.
has db xref: MSH:D003092
has db xref: SNOMEDCT_US:64226004
has db xref: UMLS:C0009319
has OBO namespace: human_phenotype
id: HP:0002583
type: Class
subclass of: Inflammation of the large intestine
notation: HP:0002583

Intestinal bleeding
tree view: Gastrointestinal hemorrhage
tree view: Abnormal intestine morphology
IAO_0000115: Bleeding from the intestines.
has db xref: SNOMEDCT_US:712510007
has db xref: UMLS:C0267373
has exact synonym: Intestinal bleeding
has exact synonym: Intestinal hemorrhage
has OBO namespace: human_phenotype
id: HP:0002584
type: Class
subclass of: Gastrointestinal hemorrhage
subclass of: Abnormal intestine morphology
notation: HP:0002584

Abnormality of the peritoneum
tree view: Abnormality of the abdominal organs
IAO_0000115: An abnormality of the peritoneum.
has db xref: UMLS:C4025698
has OBO namespace: human_phenotype
id: HP:0002585
type: Class
comment: The peritoneum is the thin tissue that lines the inner wall of the abdomen and covers most of the abdominal organs.
subclass of: Abnormality of the abdominal organs
notation: HP:0002585

Peritonitis
tree view: Abnormality of the peritoneum
tree view: HP_0045073
IAO_0000115: Inflammation of the peritoneum.
has alternative id: HP:0100591
has db xref: MSH:D010538
has db xref: SNOMEDCT_US:48661000
has db xref: UMLS:C0031154
has exact synonym: Inflammation of the peritoneum
has OBO namespace: human_phenotype
id: HP:0002586
type: Class
subclass of: Abnormality of the peritoneum
subclass of: HP_0045073
notation: HP:0002586

Projectile vomiting
tree view: Vomiting
IAO_0000115: Vomiting that ejects the gastric contents with great force.
has db xref: SNOMEDCT_US:8579004
has db xref: UMLS:C0221151
has exact synonym: Projectile vomiting
has OBO namespace: human_phenotype
id: HP:0002587
type: Class
subclass of: Vomiting
notation: HP:0002587

Duodenal ulcer
tree view: Abnormality of the duodenum
IAO_0000115: An erosion of the mucous membrane of in a portion of the duodenum.
has db xref: MEDDRA:10013836
has db xref: MSH:D004381
has db xref: SNOMEDCT_US:367474008
has db xref: SNOMEDCT_US:51868009
has db xref: UMLS:C0013295
has OBO namespace: human_phenotype
id: HP:0002588
in subset: hposlim core
type: Class
subclass of: Abnormality of the duodenum
notation: HP:0002588

Gastrointestinal atresia
tree view: HP_0012718
has db xref: UMLS:C4025697
has exact synonym: GI atresia
has OBO namespace: human_phenotype
id: HP:0002589
type: Class
subclass of: HP_0012718
notation: HP:0002589

Paralytic ileus
tree view: Ileus
has db xref: MSH:D007418
has db xref: SNOMEDCT_US:55525008
has db xref: UMLS:C0030446
has OBO namespace: human_phenotype
id: HP:0002590
type: Class
subclass of: Ileus
notation: HP:0002590

Polyphagia
tree view: HP_0100738
IAO_0000115: A neurological anomaly with gross overeating associated with an abnormally strong desire or need to eat.
has alternative id: HP:0000724
has alternative id: HP:0002042
has db xref: MSH:D006963
has db xref: SNOMEDCT_US:267023007
has db xref: SNOMEDCT_US:58424009
has db xref: SNOMEDCT_US:72405004
has db xref: UMLS:C0020505
has db xref: UMLS:C0232461
has exact synonym: Hyperphagia
has exact synonym: Voracious appetite
has OBO namespace: human_phenotype
has related synonym: Increased appetite
id: HP:0002591
type: Class
subclass of: HP_0100738
notation: HP:0002591

Gastric ulcer
tree view: Abnormality of the gastric mucosa
tree view: Peptic ulcer
IAO_0000115: An ulcer, that is, an erosion of an area of the gastric mucous membrane.
has db xref: MEDDRA:10017822
has db xref: MSH:D013276
has db xref: SNOMEDCT_US:397825006
has db xref: UMLS:C0038358
has exact synonym: Stomach ulcer
has OBO namespace: human_phenotype
id: HP:0002592
in subset: hposlim core
type: Class
comment: The presence of a mucosal erosion equal to or greater than 0.5 cm.
subclass of: Abnormality of the gastric mucosa
subclass of: Peptic ulcer
notation: HP:0002592

Intestinal lymphangiectasia
tree view: Abnormal intestine morphology
tree view: HP_0031842
IAO_0000115: Angiectasia of lymph vessels (i.e., dilatation of lymphatic vessels) in the intestines.
has db xref: MSH:D008201
has db xref: SNOMEDCT_US:197260007
has db xref: UMLS:C0024215
has OBO namespace: human_phenotype
id: HP:0002593
type: Class
subclass of: Abnormal intestine morphology
subclass of: HP_0031842
notation: HP:0002593

Pancreatic hypoplasia
tree view: HP_0100800
IAO_0000115: Hypoplasia of the pancreas.
has alternative id: HP:0005221
has db xref: SNOMEDCT_US:68591005
has db xref: UMLS:C0266267
has exact synonym: Hypoplastic pancreas
has exact synonym: Underdeveloped pancreas
has OBO namespace: human_phenotype
id: HP:0002594
type: Class
comment: Hypoplasia is defined in MPATH as resulting in a small organ or structure owing to failure to develop to normal size.
subclass of: HP_0100800
notation: HP:0002594

Ileus
tree view: Gastrointestinal dysmotility
tree view: HP_0005214
IAO_0000115: Acute obstruction of the intestines preventing passage of the contents of the intestines.
has db xref: MEDDRA:10021328
has db xref: MSH:D045823
has db xref: UMLS:C1258215
has exact synonym: Gastrointestinal atony
has OBO namespace: human_phenotype
id: HP:0002595
in subset: hposlim core
type: Class
subclass of: Gastrointestinal dysmotility
subclass of: HP_0005214
notation: HP:0002595

HP_0002596
IAO_0000231: IAO_0000227
IAO_0100001: Abnormality of enteric ganglion morphology
type: Class
deprecated: true
notation: HP:0002596

Abnormality of the vasculature
tree view: Abnormality of the cardiovascular system
IAO_0000115: An abnormality of the vasculature.
has db xref: UMLS:C0241657
has exact synonym: Abnormality of blood vessels
has exact synonym: Abnormality of the vasculature
has exact synonym: Vascular abnormalities
has OBO namespace: human_phenotype
id: HP:0002597
type: Class
subclass of: Abnormality of the cardiovascular system
notation: HP:0002597

HP_0002598
IAO_0000231: IAO_0000227
IAO_0100001: Distal muscle weakness
type: Class
deprecated: true
notation: HP:0002598

Head titubation
tree view: Head tremor
tree view: Abnormal head movements
tree view: HP_0030187
IAO_0000115: A head tremor of moderate speed (3 to 4 Hz) in the anterior-posterior direction.
has db xref: UMLS:C1608410
has OBO namespace: human_phenotype
id: HP:0002599
type: Class
comment: Titubation often accompanies midline cerebellar lesions. The 3-4 per second frequency of titubation is faster than the head nodding/bobbing that can be seen with thalamic lesions. The original description of head titubation in 1899 by Gowers (see pmid:4821687) was: As the disease progresses, some jerky irregularity develops in the movement of the neck and head so that the head presents slight movements, sometimes like an irregular tremor, sometimes simulating chorea.
subclass of: Head tremor
subclass of: Abnormal head movements
subclass of: HP_0030187
notation: HP:0002599

Hyporeflexia of lower limbs
tree view: Hyporeflexia
tree view: Abnormality of the lower limb
IAO_0000115: Reduced intensity of muscle tendon reflexes in the lower limbs. Reflexes are elicited by stretching the tendon of a muscle, e.g., by tapping.
has alternative id: HP:0006861
has db xref: UMLS:C1834696
has exact synonym: Hyporeflexia in lower limbs
has exact synonym: Hyporeflexia of the lower limbs
has exact synonym: Hyporeflexia, lower limbs
has exact synonym: Hyporeflexia/areflexia in lower limbs
has OBO namespace: human_phenotype
id: HP:0002600
type: Class
comment: Reflexes are sensorimotor arcs that require some type of sensory (afferent) signal, and some motor response. While the simplest of reflexes involve direct synapse between the sensory fiber and the motor neuron (monosynaptic), many reflexes have several neurons interposed (polysynaptic reflexes). Hyporeflexia can result from a defect anywhere in this chain.
subclass of: Hyporeflexia
subclass of: Abnormality of the lower limb
notation: HP:0002600

Paresis of extensor muscles of the big toe
tree view: Abnormality of the hallux
tree view: Distal muscle weakness
has db xref: UMLS:C4025696
has OBO namespace: human_phenotype
id: HP:0002601
type: Class
subclass of: Abnormality of the hallux
subclass of: Distal muscle weakness
notation: HP:0002601

HP_0002602
IAO_0000231: IAO_0000227
IAO_0100001: HP_0007334
type: Class
deprecated: true
notation: HP:0002602

HP_0002603
IAO_0000231: IAO_0000227
IAO_0100001: Hypokinesia
type: Class
deprecated: true
notation: HP:0002603

Gastrointestinal telangiectasia
tree view: Abnormality of gastrointestinal vasculature
tree view: HP_0100579
IAO_0000115: Telangiectasia affecting the gastrointestinal tract.
has db xref: UMLS:C1619711
has exact synonym: GI telangiectasia
has exact synonym: Small, enlarged blood vessels near skin
has OBO namespace: human_phenotype
id: HP:0002604
type: Class
comment: Telangiectasia affecting stomach, duodenum, small bowel, and/or colon.
subclass of: Abnormality of gastrointestinal vasculature
subclass of: HP_0100579
notation: HP:0002604

Hepatic necrosis
tree view: HP_0410042
IAO_0000115: The presence of necrosis affecting the liver.
created by: peter
creation date: 2008-02-20T11:32:00Z
has db xref: SNOMEDCT_US:87248009
has db xref: UMLS:C0151798
has OBO namespace: human_phenotype
id: HP:0002605
type: Class
subclass of: HP_0410042
notation: HP:0002605

HP_0002606
IAO_0000231: IAO_0000227
IAO_0100001: Aganglionic megacolon
type: Class
deprecated: true
notation: HP:0002606

Bowel incontinence
tree view: HP_0012700
tree view: HP_0031064
IAO_0000115: Involuntary fecal soiling in adults and children who have usually already been toilet trained.
has alternative id: HP:0007147
has db xref: MSH:D005242
has db xref: SNOMEDCT_US:72042002
has db xref: UMLS:C0015732
has exact synonym: Anal incontinence
has exact synonym: Fecal incontinence
has exact synonym: Loss of bowel control
has OBO namespace: human_phenotype
id: HP:0002607
type: Class
subclass of: HP_0012700
subclass of: HP_0031064
notation: HP:0002607

Celiac disease
tree view: Abnormality of the small intestine
tree view: HP_0100326
IAO_0000115: Celiac disease (CD) is an autoimmune condition affecting the small intestine, triggered by the ingestion of gluten, the protein fraction of wheat, barley, and rye. Clinical manifestations of CD are highly variable and include both gastrointestinal and non-gastrointestinal features. The hallmark of CD is an immune-mediated enteropathy. This term is included because the occurence of CD is seen as a feature of a number of other diseases.
has db xref: MSH:D002446
has db xref: SNOMEDCT_US:396331005
has db xref: UMLS:C0007570
has exact synonym: Celiac disease
has exact synonym: Celiac sprue
has OBO namespace: human_phenotype
id: HP:0002608
type: Class
subclass of: Abnormality of the small intestine
subclass of: HP_0100326
notation: HP:0002608

HP_0002609
IAO_0000231: IAO_0000227
IAO_0100001: Hematochezia
type: Class
deprecated: true
notation: HP:0002609

HP_0002610
IAO_0000231: IAO_0000227
IAO_0100001: Meconium ileus
type: Class
deprecated: true
notation: HP:0002610

Cholestatic liver disease
tree view: Cholestasis
has db xref: UMLS:C0860204
has OBO namespace: human_phenotype
id: HP:0002611
type: Class
subclass of: Cholestasis
notation: HP:0002611

Congenital hepatic fibrosis
tree view: Hepatic fibrosis
IAO_0000115: The presence of fibrosis of that part of the liver with congenital onset.
has db xref: MSH:C562378
has db xref: SNOMEDCT_US:79607001
has db xref: UMLS:C0009714
has exact synonym: Excessive buildup of connective tissue and scarring of liver at birth
has OBO namespace: human_phenotype
id: HP:0002612
type: Class
comment: Congenital hepatic fibrosis is characterized by enlarged portal tracts with extensive fibrosis and numerous bile ductules that communicate with the bile tree. The affected area tends to be sharply demarcated from normal liver parenchyma and does not display regenerative nodules (which distinguished the condition from cirrhosis).
subclass of: Hepatic fibrosis
notation: HP:0002612

Biliary cirrhosis
tree view: HP_0012440
IAO_0000115: Progressive destruction of the small-to-medium bile ducts of the intrahepatic biliary tree, which leads to progressive cholestasis and often end-stage liver disease.
has db xref: MSH:D008105
has db xref: SNOMEDCT_US:1761006
has db xref: SNOMEDCT_US:31712002
has db xref: UMLS:C0008312
has db xref: UMLS:C0023892
has OBO namespace: human_phenotype
has related synonym: Primary biliary cirrhosis
id: HP:0002613
type: Class
subclass of: HP_0012440
notation: HP:0002613

Hepatic periportal necrosis
tree view: Hepatic necrosis
IAO_0000115: A type of hepatic necrosis that is concentrated around the necrosis of hepatocytes localized around the intrahepatic branch of portal vein.
has db xref: UMLS:C0546389
has OBO namespace: human_phenotype
id: HP:0002614
type: Class
subclass of: Hepatic necrosis
notation: HP:0002614

Hypotension
tree view: HP_0030972
IAO_0000115: Low Blood Pressure, vascular hypotension.
has alternative id: HP:0005127
has alternative id: HP:0006701
has db xref: MSH:D007022
has db xref: SNOMEDCT_US:45007003
has db xref: UMLS:C0020649
has exact synonym: Arterial hypotension
has exact synonym: Low blood pressure
has OBO namespace: human_phenotype
id: HP:0002615
type: Class
subclass of: HP_0030972
notation: HP:0002615

Aortic root aneurysm
tree view: HP_0012727
IAO_0000115: An abnormal localized widening (dilatation) of the aortic root.
has alternative id: HP:0002631
has alternative id: HP:0004750
has alternative id: HP:0005125
has broad synonym: Aortic root dilatation
has db xref: SNOMEDCT_US:251036003
has db xref: UMLS:C0238669
has exact synonym: Bulge in wall of root of large artery that carries blood away from heart
has exact synonym: Increased aortic root diameter
has OBO namespace: human_phenotype
id: HP:0002616
type: Class
subclass of: HP_0012727
notation: HP:0002616

Dilatation
tree view: HP_0025015
IAO_0000115: Abnormal outpouching or sac-like dilatation in the wall of an atery, vein or the heart.
has db xref: Fyler:2399
has db xref: MSH:D000783
has db xref: SNOMEDCT_US:432119003
has db xref: SNOMEDCT_US:85659009
has db xref: UMLS:C0002940
has db xref: UMLS:C4020848
has exact synonym: Aneurysmal dilatation
has exact synonym: Wider than typical opening or gap
has narrow synonym: Aneurysm
has narrow synonym: Aneurysms
has OBO namespace: human_phenotype
has related synonym: Aneurysmal disease
id: HP:0002617
type: Class
comment: Aneurysm is considered a severe form of dilatation.
subclass of: HP_0025015
notation: HP:0002617

HP_0002618
IAO_0000231: IAO_0000227
IAO_0100001: Dilatation of the cerebral artery
type: Class
deprecated: true
notation: HP:0002618

Varicose veins
tree view: HP_0005293
IAO_0000115: Enlarged and tortuous veins.
has db xref: MSH:D014648
has db xref: SNOMEDCT_US:128060009
has db xref: SNOMEDCT_US:12856003
has db xref: SNOMEDCT_US:399989005
has db xref: UMLS:C0042345
has OBO namespace: human_phenotype
id: HP:0002619
type: Class
subclass of: HP_0005293
notation: HP:0002619

HP_0002620
IAO_0000231: IAO_0000227
IAO_0100001: HP_0011004
type: Class
deprecated: true
notation: HP:0002620

Atherosclerosis
tree view: Arteriosclerosis
IAO_0000115: A condition characterized by patchy atheromas or atherosclerotic plaques which develop in the walls of medium-sized and large arteries and can lead to arterial stenosis with reduced or blocked blood flow.
has broad synonym: Plaque build-up in arteries
has db xref: MSH:D050197
has db xref: SNOMEDCT_US:38716007
has db xref: UMLS:C0004153
has db xref: UMLS:C4280569
has exact synonym: Atherosclerotic cardiovascular disease
has exact synonym: Narrowing and hardening of arteries
has OBO namespace: human_phenotype
id: HP:0002621
type: Class
comment: Strictly speaking, atherosclerosis is a specific type of arteriosclerosis ('hardening of the arteries'), although the terms are sometimes used interchangeably in clinical jargon.
subclass of: Arteriosclerosis
notation: HP:0002621

obsolete Dissecting aortic dilatation
IAO_0000231: IAO_0000227
IAO_0100001: Aortic dissection
IAO_0100001: HP:0002647
has OBO namespace: human_phenotype
id: HP:0002622
type: Class
deprecated: true
notation: HP:0002622

Overriding aorta
tree view: Abnormal aortic morphology
IAO_0000115: An overriding aorta is a congenital heart defect where the aorta is positioned directly over a ventricular septal defect, instead of over the left ventricle. The result is that the aorta receives some blood from the right ventricle, which reduces the amount of oxygen in the blood. It is one of the four conditions of the Tetralogy of Fallot. The aortic root can be displaced toward the front (anteriorly) or directly above the septal defect, but it is always abnormally located to the right of the root of the pulmonary artery. The degree of override is quite variable, with 5-95% of the valve being connected to the right ventricle.
has db xref: Fyler:1432
has db xref: SNOMEDCT_US:63934006
has db xref: UMLS:C0011818
has db xref: UMLS:C0265886
has exact synonym: Dextroposition of aorta
has exact synonym: Overriding aortic valve
has OBO namespace: human_phenotype
id: HP:0002623
type: Class
subclass of: Abnormal aortic morphology
notation: HP:0002623

Abnormal venous morphology
tree view: HP_0025015
IAO_0000115: An anomaly of vein.
has db xref: UMLS:C0241665
has exact synonym: Abnormal vein
has exact synonym: Venous abnormality
has OBO namespace: human_phenotype
id: HP:0002624
type: Class
subclass of: HP_0025015
notation: HP:0002624

Deep venous thrombosis
tree view: Venous thrombosis
IAO_0000115: Formation of a blot clot in a deep vein. The clot often blocks blood flow, causing swelling and pain. The deep veins of the leg are most often affected.
has db xref: MSH:D020246
has db xref: SNOMEDCT_US:128053003
has db xref: UMLS:C0149871
has exact synonym: Blood clot in a deep vein
has exact synonym: Deep vein thrombosis
has exact synonym: Multiple deep venous thrombosis
has OBO namespace: human_phenotype
id: HP:0002625
type: Class
subclass of: Venous thrombosis
notation: HP:0002625

Venous varicosities of celiac and mesenteric vessels
tree view: Varicose veins
IAO_0000115: Elongated and tortuous mesenteric veins, which comprise the inferior mesenteric vein and the superior mesenteric vein.
has db xref: UMLS:C1857692
has OBO namespace: human_phenotype
id: HP:0002626
type: Class
subclass of: Varicose veins
notation: HP:0002626

Right aortic arch with mirror image branching
tree view: HP_0012020
IAO_0000115: The aortic arch crosses the right mainstem bronchus and not the left mainstem bronchus, but does not result in the creation of a vascular ring. The first branch is the left brachiocephalic artery which divides into the left carotid artery and left subclavian artery, the second branch is the right carotid artery, the third branch is the right subclavian artery.
has db xref: UMLS:C4025695
has OBO namespace: human_phenotype
id: HP:0002627
type: Class
subclass of: HP_0012020
notation: HP:0002627

HP_0002628
IAO_0000231: IAO_0000227
IAO_0100001: Abnormal intestine morphology
type: Class
deprecated: true
notation: HP:0002628

Gastrointestinal arteriovenous malformation
tree view: Abnormality of gastrointestinal vasculature
tree view: HP_0100026
IAO_0000115: An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the gastrointestinal tract.
has db xref: UMLS:C0744321
has exact synonym: GI arteriovenous malformation
has OBO namespace: human_phenotype
id: HP:0002629
type: Class
subclass of: Abnormality of gastrointestinal vasculature
subclass of: HP_0100026
notation: HP:0002629

Fat malabsorption
tree view: Malabsorption
tree view: Abnormality of the small intestine
IAO_0000115: Abnormality of the absorption of fat from the gastrointestinal tract.
has db xref: SNOMEDCT_US:197494007
has db xref: UMLS:C0554103
has OBO namespace: human_phenotype
id: HP:0002630
type: Class
subclass of: Malabsorption
subclass of: Abnormality of the small intestine
notation: HP:0002630

obsolete Dilatation of ascending aorta
IAO_0000231: IAO_0000227
IAO_0100001: Aortic root aneurysm
IAO_0100001: HP:0002616
has OBO namespace: human_phenotype
id: HP:0002631
type: Class
deprecated: true
notation: HP:0002631

Low-to-normal blood pressure
tree view: Hypotension
has db xref: UMLS:C1866500
has exact synonym: Low-to-normal BP
has exact synonym: Low-to-normal blood pressure
has OBO namespace: human_phenotype
id: HP:0002632
type: Class
subclass of: Hypotension
notation: HP:0002632

Vasculitis
tree view: HP_0025015
IAO_0000115: Inflammation of blood vessel.
has db xref: MSH:D014657
has db xref: SNOMEDCT_US:31996006
has db xref: UMLS:C0042384
has exact synonym: Angiitis
has exact synonym: Inflammation of blood vessel
has OBO namespace: human_phenotype
id: HP:0002633
type: Class
subclass of: HP_0025015
notation: HP:0002633

Arteriosclerosis
tree view: HP_0011004
IAO_0000115: Sclerosis (hardening) of the arteries with increased thickness of the wall of arteries as well as increased stiffness and a loss of elasticity.
has broad synonym: Hardened artery wall
has db xref: MSH:D001161
has db xref: SNOMEDCT_US:107671003
has db xref: SNOMEDCT_US:28960008
has db xref: SNOMEDCT_US:72092001
has db xref: UMLS:C0003850
has db xref: UMLS:C4280568
has OBO namespace: human_phenotype
id: HP:0002634
type: Class
comment: Although arteriosclerosis and atherosclerosis are often used as if they were synonyms, they are not. Atherosclerosis is the most common type of arteriosclerosis, and is caused by plaque building up in the vessel, which in turn causes sclerosis, increased stiffness, and loss of elasticity of the affected arteries.
subclass of: HP_0011004
notation: HP:0002634

Type IV atherosclerotic lesion
tree view: HP_0031678
IAO_0000115: In type IV atherosclerotic lesions a dense accumulation of extracellular lipid occupies an extensive but well-defined region of the intima. This type of extracellular lipid accumulation is known as the lipid core. A fibrous tissue increase is not a feature, and complications such as defects of the lesion surface and thrombosis are not present. The type IV lesion is also known as atheroma. Type IV is the first lesion considered advanced in this classification because of the severe intimal disorganization caused by the lipid core. The characteristic core appears to develop from an increase and the consequent confluence of the small isolated pools of extracellular lipid that characterize type III lesions. The increase in lipid is believed to result from continued insudation from the plasma. Type IV lesions, when they first appear in younger people, are found in the same locations as adaptive intimal thickenings of the eccentric type. Thus, atheroma is, at least initially, an eccentric lesion.
has db xref: MSH:D050197
has db xref: SNOMEDCT_US:38716007
has db xref: UMLS:C0004153
has OBO namespace: human_phenotype
has related synonym: Atheromatosis
id: HP:0002635
type: Class
subclass of: HP_0031678
notation: HP:0002635

Dilatation of an abdominal artery
tree view: Dilatation
tree view: HP_0011004
IAO_0000115: Abnormal outpouching or sac-like dilatation in an artery that originates from he abdominal aorta.
has db xref: UMLS:C4025694
has narrow synonym: Aneurysm of an abdominal artery
has OBO namespace: human_phenotype
id: HP:0002636
type: Class
comment: Aneurysm is considered a severe form of dilatation.
subclass of: Dilatation
subclass of: HP_0011004
notation: HP:0002636

Cerebral ischemia
tree view: HP_0009145
tree view: HP_0100545
has db xref: MSH:D002545
has db xref: SNOMEDCT_US:287731003
has db xref: SNOMEDCT_US:389100007
has db xref: UMLS:C0007786
has db xref: UMLS:C0917798
has exact synonym: Brain ischemia
has exact synonym: Cerebrovascular ischemia
has exact synonym: Disruption of blood oxygen supply to brain
has OBO namespace: human_phenotype
id: HP:0002637
type: Class
subclass of: HP_0009145
subclass of: HP_0100545
notation: HP:0002637

Superficial thrombophlebitis
tree view: Thrombophlebitis
IAO_0000115: Inflammation of a superficial vein associated with venous thrombosis (blood clot formation within the vein).
has db xref: SNOMEDCT_US:2477008
has db xref: UMLS:C1510431
has OBO namespace: human_phenotype
id: HP:0002638
type: Class
subclass of: Thrombophlebitis
notation: HP:0002638

Budd-Chiari syndrome
tree view: HP_0030846
IAO_0000115: Budd-Chiari syndrome (BCS) is caused by obstruction of hepatic venous outflow at any level from the small hepatic veins to the junction of the inferior vena cava (IVC) with the right atrium, 1 and occurs in 1/100,000 of the general population worldwide. The most common presentation is with ascites, but can range from fulminant hepatic failure (FHF) to asymptomatic forms. Obstruction of hepatic venous outflow is mainly caused by primary intravascular thrombosis, which can occur suddenly or be repeated over time, accompanied by some revascularization, accounting for the variable parenchymal hepatic damage and histologic presentation. Budd-Chiari syndrome is thus a disease, but since it occurs as a manifestation of several other diseases, this term is kept for the present for convenience.
has db xref: MSH:D006502
has db xref: SNOMEDCT_US:82385007
has db xref: UMLS:C0856761
has OBO namespace: human_phenotype
id: HP:0002639
type: Class
subclass of: HP_0030846
notation: HP:0002639

Hypertension associated with pheochromocytoma
tree view: Hypertension
IAO_0000115: A type of hypertension associated with pheochromocytoma.
has db xref: UMLS:C4025693
has OBO namespace: human_phenotype
id: HP:0002640
type: Class
subclass of: Hypertension
notation: HP:0002640

Peripheral thrombosis
tree view: Abnormal thrombosis
has db xref: UMLS:C1849749
has exact synonym: Peripheral blood clot
has OBO namespace: human_phenotype
id: HP:0002641
type: Class
subclass of: Abnormal thrombosis
notation: HP:0002641

Arteriovenous fistulas of celiac and mesenteric vessels
tree view: Abnormal venous morphology
tree view: Arteriovenous fistula
has db xref: UMLS:C1857693
has OBO namespace: human_phenotype
id: HP:0002642
type: Class
subclass of: Abnormal venous morphology
subclass of: Arteriovenous fistula
notation: HP:0002642

Neonatal respiratory distress
tree view: Respiratory insufficiency
IAO_0000115: Respiratory difficulty as newborn.
has db xref: UMLS:C0852283
has exact synonym: Infantile respiratory distress
has exact synonym: Neonatal respiratory distress
has exact synonym: Newborn respiratory distress
has exact synonym: Respiratory distress, neonatal
has OBO namespace: human_phenotype
id: HP:0002643
type: Class
subclass of: Respiratory insufficiency
notation: HP:0002643

Abnormality of pelvic girdle bone morphology
tree view: HP_0011844
IAO_0000115: An abnormality of the bony pelvic girdle, which is a ring of bones connecting the vertebral column to the femurs.
has db xref: UMLS:C4020847
has exact synonym: Abnormal shape of pelvic girdle bone
has OBO namespace: human_phenotype
has related synonym: Abnormality of the pelvic girdle
id: HP:0002644
type: Class
subclass of: HP_0011844
notation: HP:0002644

Wormian bones
tree view: HP_0011329
IAO_0000115: The presence of extra bones within a cranial suture. Wormian bones are irregular isolated bones which appear in addition to the usual centers of ossification of the cranium.
has db xref: SNOMEDCT_US:113194005
has db xref: UMLS:C0222716
has exact synonym: Extra bones within cranial sutures
has exact synonym: Intra sutural bones
has exact synonym: Intrasutural bones
has exact synonym: Islands of bone within cranial sutures
has OBO namespace: human_phenotype
id: HP:0002645
in subset: hposlim core
type: Class
comment: Irregular, solated bones in the lambdoidal suture or at the fontanelles.
subclass of: HP_0011329
notation: HP:0002645

HP_0002646
IAO_0000231: IAO_0000227
IAO_0100001: Widely patent fontanelles and sutures
type: Class
deprecated: true
notation: HP:0002646

Aortic dissection
tree view: Abnormal aortic morphology
IAO_0000115: Aortic dissection refers to a tear in the intimal layer of the aorta causing a separation between the intima and the medial layers of the aorta.
has alternative id: HP:0002622
has db xref: SNOMEDCT_US:308546005
has db xref: UMLS:C0340643
has exact synonym: Tear in inner wall of large artery that carries blood away from heart
has OBO namespace: human_phenotype
id: HP:0002647
type: Class
subclass of: Abnormal aortic morphology
notation: HP:0002647

Abnormality of calvarial morphology
tree view: Abnormality of the calvaria
IAO_0000115: The presence of an abnormal shape of the calvaria (skullcap), that is, of that part of the skull that is made up of the superior portions of the frontal bone, occipital bone, and parietal bones and covers the cranial cavity that contains the brain.
has broad synonym: Abnormality of skull bone morphology
has broad synonym: Abnormality of the shape of skull bones
has db xref: UMLS:C4025692
has db xref: UMLS:C4280260
has exact synonym: Abnormal cranium morphology
has exact synonym: Abnormality of cranial bone morphology
has exact synonym: Abnormality of the shape of calvarium
has exact synonym: Abnormality of the shape of cranium
has exact synonym: Abnormally shaped skull
has OBO namespace: human_phenotype
id: HP:0002648
type: Class
subclass of: Abnormality of the calvaria
notation: HP:0002648

HP_0002649
IAO_0000231: IAO_0000227
IAO_0100001: HP_0005616
type: Class
deprecated: true
notation: HP:0002649

Scoliosis
tree view: HP_0010674
IAO_0000115: The presence of an abnormal lateral curvature of the spine.
has alternative id: HP:0002770
has alternative id: HP:0003303
has alternative id: HP:0003317
has alternative id: HP:0003415
has broad synonym: Curvature of spine
has broad synonym: Curved spine
has db xref: Fyler:4160
has db xref: MSH:D013121
has db xref: SNOMEDCT_US:111266001
has db xref: SNOMEDCT_US:64217002
has db xref: UMLS:C0037932
has db xref: UMLS:C0700208
has exact synonym: Abnormal curving of the spine
has OBO namespace: human_phenotype
id: HP:0002650
in subset: hposlim core
type: Class
subclass of: HP_0010674
notation: HP:0002650

Spondyloepimetaphyseal dysplasia
tree view: Skeletal dysplasia
has db xref: SNOMEDCT_US:254062008
has db xref: UMLS:C0432211
has OBO namespace: human_phenotype
id: HP:0002651
type: Class
subclass of: Skeletal dysplasia
notation: HP:0002651

Skeletal dysplasia
tree view: HP_0011842
IAO_0000115: A general term describing features characterized by abnormal development of bones and connective tissues.
has alternative id: HP:0005685
has broad synonym: Abnormal skeletal development
has db xref: MSH:D010009
has db xref: SNOMEDCT_US:105985007
has db xref: SNOMEDCT_US:240190009
has db xref: UMLS:C0029422
has db xref: UMLS:C4280567
has OBO namespace: human_phenotype
id: HP:0002652
type: Class
comment: The word skeletal dysplasia is most often used to describe a group of over 380 inherited conditions that involve abnormal development of bones and connective tissues. However, the word can also be used to describe the presence of a congenital defects of bones or connective tissues that are found in one or more of the diseases, especially on prenatal ultrasound, i.e., a situation in which it is often not yet possible to make an exact etiological diagnosis. This is the sense of the phrase we use in the HPO. It is, however, preferable to annotate the observed abnormalities.
subclass of: HP_0011842
notation: HP:0002652

Bone pain
tree view: HP_0011843
tree view: HP_0012531
IAO_0000115: An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone.
has db xref: SNOMEDCT_US:12584003
has db xref: UMLS:C0151825
has exact synonym: Bone pain
has OBO namespace: human_phenotype
id: HP:0002653
type: Class
subclass of: HP_0011843
subclass of: HP_0012531
notation: HP:0002653

Multiple epiphyseal dysplasia
tree view: Skeletal dysplasia
has db xref: MSH:D010009
has db xref: SNOMEDCT_US:59708000
has db xref: UMLS:C0026760
has OBO namespace: human_phenotype
id: HP:0002654
type: Class
subclass of: Skeletal dysplasia
notation: HP:0002654

Spondyloepiphyseal dysplasia
tree view: Skeletal dysplasia
IAO_0000115: A disorder of bone growth affecting the vertebrae and the ends of the long bones (epiphyses).
has alternative id: HP:0002776
has alternative id: HP:0005893
has db xref: MSH:D010009
has db xref: UMLS:C0038015
has exact synonym: Spondyloepiphyseal dysplasia tarda
has OBO namespace: human_phenotype
id: HP:0002655
type: Class
subclass of: Skeletal dysplasia
notation: HP:0002655

Epiphyseal dysplasia
tree view: Skeletal dysplasia
tree view: HP_0005930
has broad synonym: Abnormal development of end part of bone
has db xref: SNOMEDCT_US:254080004
has db xref: UMLS:C0392476
has db xref: UMLS:C4280566
has exact synonym: Abnormal development of the ends of long bones in arms and legs
has OBO namespace: human_phenotype
id: HP:0002656
type: Class
subclass of: Skeletal dysplasia
subclass of: HP_0005930
notation: HP:0002656

Spondylometaphyseal dysplasia
tree view: Skeletal dysplasia
has db xref: MSH:C537501
has db xref: SNOMEDCT_US:702350003
has db xref: UMLS:C0700635
has OBO namespace: human_phenotype
id: HP:0002657
type: Class
subclass of: Skeletal dysplasia
notation: HP:0002657

HP_0002658
IAO_0000231: IAO_0000227
IAO_0100001: HP_0010655
type: Class
deprecated: true
notation: HP:0002658

Increased susceptibility to fractures
tree view: HP_0011843
IAO_0000115: An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture.
has alternative id: HP:0002662
has alternative id: HP:0002798
has alternative id: HP:0005710
has alternative id: HP:0005783
has alternative id: HP:0005931
has db xref: UMLS:C1390474
has exact synonym: Abnormal susceptibility to fractures
has exact synonym: Bone fragility
has exact synonym: Frequent broken bones
has exact synonym: Increased bone fragility
has exact synonym: Increased susceptibility to fractures
has exact synonym: Increased tendency to fractures
has OBO namespace: human_phenotype
id: HP:0002659
type: Class
comment: This is a bundled term that will be made obsolete.
subclass of: HP_0011843
notation: HP:0002659

HP_0002660
IAO_0000231: IAO_0000227
IAO_0100001: Recurrent fractures
type: Class
deprecated: true
notation: HP:0002660

Painless fractures due to injury
tree view: Increased susceptibility to fractures
tree view: HP_0010832
IAO_0000115: An increased tendency to fractures following trauma, with fractures occurring without pain.
has db xref: UMLS:C1837602
has exact synonym: Painless fractures due to injury
has OBO namespace: human_phenotype
id: HP:0002661
type: Class
subclass of: Increased susceptibility to fractures
subclass of: HP_0010832
notation: HP:0002661

HP_0002662
IAO_0000231: IAO_0000227
IAO_0100001: Increased susceptibility to fractures
type: Class
deprecated: true
notation: HP:0002662

Delayed epiphyseal ossification
tree view: HP_0005930
tree view: HP_0010656
has alternative id: HP:0005862
has db xref: UMLS:C1865200
has db xref: UMLS:C4280565
has exact synonym: Delayed epiphyseal maturation
has exact synonym: Delayed epiphyseal ossification
has exact synonym: Delayed opacification of the epiphyses
has exact synonym: Epiphyseal ossification delay
has OBO namespace: human_phenotype
has related synonym: Delayed maturation of end part of long bone
id: HP:0002663
type: Class
subclass of: HP_0005930
subclass of: HP_0010656
notation: HP:0002663

Neoplasm
tree view: Phenotypic abnormality
IAO_0000115: An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumour).
has alternative id: HP:0003008
has alternative id: HP:0006741
has broad synonym: Abnormal tissue mass
has db xref: MSH:D009369
has db xref: NCIT:C3262
has db xref: SNOMEDCT_US:108369006
has db xref: SNOMEDCT_US:363346000
has db xref: UMLS:C0006826
has db xref: UMLS:C0027651
has exact synonym: Neoplasia
has exact synonym: Oncological abnormality
has exact synonym: Tumor
has exact synonym: Tumour
has OBO namespace: human_phenotype
has related synonym: Cancer
has related synonym: Oncology
id: HP:0002664
type: Class
comment: The World Health Organization (WHO) classifies neoplasms into four main groups: (i) benign neoplasm, (ii) in situ neoplasm, (iii) malignant neoplasm, and (iv) neoplasm of uncertain or unknown behavior. A malignant neoplasm is also known as cancer.
subclass of: Phenotypic abnormality
notation: HP:0002664

Lymphoma
tree view: Hematological neoplasm
IAO_0000115: A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells.
has db xref: MSH:D008223
has db xref: NCIT:C7065
has db xref: SNOMEDCT_US:115244002
has db xref: SNOMEDCT_US:118600007
has db xref: SNOMEDCT_US:188676008
has db xref: SNOMEDCT_US:21964009
has db xref: UMLS:C0024299
has exact synonym: Cancer of lymphatic system
has OBO namespace: human_phenotype
id: HP:0002665
type: Class
subclass of: Hematological neoplasm
notation: HP:0002665

Pheochromocytoma
tree view: HP_0100634
IAO_0000115: Pheochromocytomas (also known as chromaffin tumors) produce, store, and secrete catecholamines. Pheochromocytomas usually originate from the adrenal medulla but may also develop from chromaffin cells in or about sympathetic ganglia. A common symptom of pheochromocytoma is hypertension owing to release of catecholamines.
has db xref: MSH:D010673
has db xref: NCIT:C3326
has db xref: SNOMEDCT_US:302835009
has db xref: SNOMEDCT_US:399343007
has db xref: SNOMEDCT_US:85583005
has db xref: UMLS:C0031511
has exact synonym: Chromaffin tumors
has OBO namespace: human_phenotype
id: HP:0002666
type: Class
subclass of: HP_0100634
notation: HP:0002666

Nephroblastoma
tree view: HP_0011794
IAO_0000115: The presence of a nephroblastoma, which is a neoplasm of the kidney that primarily affects children.
has alternative id: HP:0000115
has db xref: MSH:D009396
has db xref: NCIT:C40407
has db xref: SNOMEDCT_US:25081006
has db xref: SNOMEDCT_US:302849000
has db xref: UMLS:C0027708
has exact synonym: Wilm's tumor
has exact synonym: Wilms tumor
has OBO namespace: human_phenotype
id: HP:0002667
type: Class
comment: Nephroblastoma is characterized by an abnormal proliferation of the metanephric blastema cells, which are believed to be primitive embryologic cells of the kidney. Clinically, nephroblatoma usually presents as an abdominal mass, and in some cases with abdominal pain, hypertension, hematuria, and fever.
subclass of: HP_0011794
notation: HP:0002667

Paraganglioma
tree view: HP_0100634
IAO_0000115: A carotid body tumor (also called paraganglionoma or chemodectoma) is a tumor found in the upper neck at the branching of the carotid artery. They arise from the chemoreceptor organ (paraganglion) located in the adventitia of the carotid artery bifurcation.
has alternative id: HP:0002670
has alternative id: HP:0003004
has db xref: MSH:D010235
has db xref: NCIT:C3308
has db xref: SNOMEDCT_US:127027008
has db xref: SNOMEDCT_US:253029009
has db xref: SNOMEDCT_US:302833002
has db xref: SNOMEDCT_US:72787006
has db xref: SNOMEDCT_US:803009
has db xref: UMLS:C0030421
has exact synonym: Carotid body tumors
has exact synonym: Paragangliomas
has OBO namespace: human_phenotype
id: HP:0002668
type: Class
subclass of: HP_0100634
notation: HP:0002668

Osteosarcoma
tree view: HP_0010622
tree view: HP_0100242
IAO_0000115: A malignant bone tumor that usually develops during adolescence and usually affects the long bones including the tibia, femur, and humerus. The typical symptoms of osteosarcoma comprise bone pain, fracture, limitation of motion, and tenderness or swelling at the site of the tumor.
has db xref: MSH:D012516
has db xref: NCIT:C9145
has db xref: SNOMEDCT_US:21708004
has db xref: SNOMEDCT_US:307576001
has db xref: UMLS:C0029463
has exact synonym: Bone cell cancer
has exact synonym: Osteogenic sarcoma
has OBO namespace: human_phenotype
id: HP:0002669
type: Class
subclass of: HP_0010622
subclass of: HP_0100242
notation: HP:0002669

HP_0002670
IAO_0000231: IAO_0000227
IAO_0100001: Paraganglioma
type: Class
deprecated: true
notation: HP:0002670

Basal cell carcinoma
tree view: HP_0008069
IAO_0000115: The presence of a basal cell carcinoma of the skin.
has db xref: MSH:D002280
has db xref: NCIT:C2921
has db xref: SNOMEDCT_US:1338007
has db xref: SNOMEDCT_US:254701007
has db xref: SNOMEDCT_US:275265005
has db xref: UMLS:C0007117
has db xref: UMLS:C1862314
has exact synonym: Basal cell carcinomas
has exact synonym: Basal cell epithelioma
has exact synonym: Basal cell nevus
has exact synonym: Basalioma
has OBO namespace: human_phenotype
id: HP:0002671
type: Class
comment: A basal cell carcinoma is the most common type of skin cancer which rarely metastasizes, but is still considered malignant because it can cause significant destruction and disfigurement by invading surrounding tissues. In 80 percent of all cases, basal cell cancers are found on the head and neck or on other sun-exposed areas of the body. Apart from sporadic basal cell carcinoma, there are hereditary conditions such as the basal cell nevus syndrome where patients develop multiple basal cell carcinomas throughout life.
subclass of: HP_0008069
notation: HP:0002671

Gastrointestinal carcinoma
tree view: HP_0006749
has db xref: UMLS:C0151544
has exact synonym: GI carcinoma
has OBO namespace: human_phenotype
id: HP:0002672
type: Class
subclass of: HP_0006749
notation: HP:0002672

Coxa valga
tree view: Abnormality of the femoral neck
IAO_0000115: Coxa valga is a deformity of the hip in which the angle between the femoral shaft and the femoral neck is increased compared to age-adjusted values (about 150 degrees in newborns gradually reducing to 120-130 degrees in adults).
has db xref: MSH:D060906
has db xref: SNOMEDCT_US:299236004
has db xref: UMLS:C0239137
has db xref: UMLS:C3549698
has OBO namespace: human_phenotype
has related synonym: Coxa valga deformity
id: HP:0002673
type: Class
subclass of: Abnormality of the femoral neck
notation: HP:0002673

HP_0002674
IAO_0000231: IAO_0000227
IAO_0100001: Micrognathia
type: Class
deprecated: true
notation: HP:0002674

HP_0002675
IAO_0000231: IAO_0000227
IAO_0100001: Coronal craniosynostosis
type: Class
deprecated: true
notation: HP:0002675

Cloverleaf skull
tree view: Abnormality of calvarial morphology
IAO_0000115: Trilobar skull configuration when viewed from the front or behind.
has alternative id: HP:0004477
has alternative id: HP:0005459
has broad synonym: Cloverleaf cranium shape
has broad synonym: Cloverleaf skull shape
has broad synonym: Trilobar cranium shape
has broad synonym: Trilobar skull shape
has db xref: UMLS:C1860050
has db xref: UMLS:C4280564
has exact synonym: Kleeblattschaedel
has OBO namespace: human_phenotype
id: HP:0002676
in subset: hposlim core
type: Class
comment: A deformity of the skull that resembles a cloverleaf and is characterized by very prominent temporal bones with constriction of the remainder of the cranium. Cloverleaf skull is commonly accompanied by hydrocephalus.
subclass of: Abnormality of calvarial morphology
notation: HP:0002676

Small foramen magnum
tree view: Abnormality of the foramen magnum
IAO_0000115: An abnormal narrowing of the foramen magnum.
has alternative id: HP:0005468
has db xref: SNOMEDCT_US:444879009
has db xref: UMLS:C1535953
has db xref: UMLS:C1861217
has db xref: UMLS:C4072838
has exact synonym: Foramen magnum stenosis
has exact synonym: Little foramen magnum
has exact synonym: Narrow foramen magnum
has narrow synonym: Hypoplasia of foramen magnum
has narrow synonym: Stenosis of foramen magnum
has OBO namespace: human_phenotype
id: HP:0002677
in subset: hposlim core
type: Class
comment: The foramen magnum is the aperture through which the medulla oblongata enters and exits the skull. Stenosis of the foramen magnum can represent a risk for compression to the spinal cord.
subclass of: Abnormality of the foramen magnum
notation: HP:0002677

Skull asymmetry
tree view: Abnormality of calvarial morphology
has broad synonym: Abnormality of skull shape
has broad synonym: Unequal skull shape
has broad synonym: Uneven skull shape
has db xref: SNOMEDCT_US:248372000
has db xref: UMLS:C0424690
has db xref: UMLS:C4280562
has db xref: UMLS:C4280563
has exact synonym: Asymmetry of skull
has exact synonym: Skull asymmetry
has OBO namespace: human_phenotype
has related synonym: Malformation of skull shape
id: HP:0002678
type: Class
subclass of: Abnormality of calvarial morphology
notation: HP:0002678

Abnormality of the sella turcica
tree view: Abnormality of the skull
IAO_0000115: Abnormality of the sella turcica, a saddle-shaped depression in the sphenoid bone at the base of the human skull.
has db xref: UMLS:C4021754
has db xref: UMLS:C4072839
has exact synonym: Anomaly of the sella turcica
has narrow synonym: Abnormality of the hypophysial fossa
has narrow synonym: Abnormality of the pituitary fossa
has narrow synonym: Anomaly of the hypophysial fossa
has narrow synonym: Anomaly of the pituitary fossa
has OBO namespace: human_phenotype
id: HP:0002679
in subset: hposlim core
type: Class
subclass of: Abnormality of the skull
notation: HP:0002679

J-shaped sella turcica
tree view: Deformed sella turcica
IAO_0000115: A deformity of the sella turcica whereby the sella extends further anterior than normal such that the anterior clinoid process appears to overhang it, giving the appearance of the letter J on imaging of the skull.
has db xref: UMLS:C1854718
has db xref: UMLS:C4072841
has db xref: UMLS:C4072842
has exact synonym: Hour glass shaped hypophysial fossa
has exact synonym: Hour glass shaped pituitary fossa
has exact synonym: Hour glass shaped sella turcica
has exact synonym: J-shaped sella
has exact synonym: Omega shaped sella turcica
has narrow synonym: J-shaped hypophysial fossa
has narrow synonym: J-shaped pituitary fossa
has narrow synonym: Omega shaped hypophysial fossa
has narrow synonym: Omega shaped pituitary fossa
has OBO namespace: human_phenotype
id: HP:0002680
in subset: hposlim core
type: Class
subclass of: Deformed sella turcica
notation: HP:0002680

Deformed sella turcica
tree view: Abnormality of the sella turcica
has db xref: UMLS:C1846437
has exact synonym: Abnormal shape of hypophysial fossa
has exact synonym: Abnormal shape of pituitary fossa
has exact synonym: Abnormal shape of sella turcica
has exact synonym: Deformity of hypophysial fossa
has exact synonym: Deformity of pituitary fossa
has exact synonym: Malformation of hypophysial fossa
has exact synonym: Malformation of pituitary fossa
has exact synonym: Malformation of sella turcica
has OBO namespace: human_phenotype
id: HP:0002681
type: Class
subclass of: Abnormality of the sella turcica
notation: HP:0002681

Broad skull
tree view: Abnormality of calvarial morphology
IAO_0000115: Increased width of the skull.
has db xref: SNOMEDCT_US:248374004
has db xref: UMLS:C0424693
has exact synonym: Broad cranium
has exact synonym: Broad skull
has exact synonym: Increased width of cranium
has exact synonym: Increased width of skull
has exact synonym: Wide cranium
has exact synonym: Wide skull
has OBO namespace: human_phenotype
id: HP:0002682
type: Class
subclass of: Abnormality of calvarial morphology
notation: HP:0002682

Abnormality of the calvaria
tree view: Abnormality of the skull
IAO_0000115: Abnormality of the calvaria, which is the roof of the skull formed by the frontal bone, parietal bones, and occipital bone.
has broad synonym: Abnormality of cranium
has db xref: UMLS:C4025691
has db xref: UMLS:C4280561
has exact synonym: Abnormality of calvarium
has exact synonym: Abnormality of cranial vault
has exact synonym: Abnormality of the skull cap
has exact synonym: Abnormality of the skullcap
has OBO namespace: human_phenotype
id: HP:0002683
type: Class
comment: The calvaria, or skull cap, is the upper part of the skull (cranium) and comprises the frontal, occipital and right and left parietal bones. Occasionally, calvaria is misspelled as 'calvarium' in the medical literature.
subclass of: Abnormality of the skull
notation: HP:0002683

Thickened calvaria
tree view: Abnormality of the calvaria
IAO_0000115: The presence of an abnormally thick calvaria.
has broad synonym: Increased thickness of cranium
has db xref: UMLS:C1858452
has db xref: UMLS:C4280560
has exact synonym: Calvarial thickening
has exact synonym: Calvarium thickened
has exact synonym: Increased calvarial thickness
has exact synonym: Increased thickness of calvaria
has exact synonym: Increased thickness of calvarium
has exact synonym: Increased thickness of cranial vault
has exact synonym: Increased thickness of skull cap
has exact synonym: Thick calvaria
has exact synonym: Thick calvarium
has exact synonym: Thickened calvaria
has exact synonym: Thickened calvarium
has exact synonym: Thickened cranial vault
has exact synonym: Thickened cranium
has exact synonym: Thickened skull cap
has exact synonym: Thickening of the calvaria
has OBO namespace: human_phenotype
id: HP:0002684
type: Class
subclass of: Abnormality of the calvaria
notation: HP:0002684

HP_0002685
IAO_0000231: IAO_0000227
IAO_0100001: Coronal craniosynostosis
type: Class
deprecated: true
notation: HP:0002685

Prenatal maternal abnormality
tree view: Abnormality of prenatal development or birth
has db xref: UMLS:C4025690
has OBO namespace: human_phenotype
has related synonym: Maternal health problem
id: HP:0002686
type: Class
subclass of: Abnormality of prenatal development or birth
notation: HP:0002686

Abnormality of frontal sinus
tree view: Abnormality of the paranasal sinuses
IAO_0000115: An abnormality of the frontal sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The frontal sinus is located within the frontal bone.
has db xref: UMLS:C4025689
has exact synonym: Abnormality of sinus frontalis
has exact synonym: Abnormality of the forehead sinus
has OBO namespace: human_phenotype
id: HP:0002687
type: Class
subclass of: Abnormality of the paranasal sinuses
notation: HP:0002687

Absent frontal sinuses
tree view: HP_0009119
IAO_0000115: Aplasia of frontal sinus.
has alternative id: HP:0005452
has alternative id: HP:0005475
has db xref: UMLS:C1855669
has db xref: UMLS:C4280559
has exact synonym: Absence of frontal sinuses
has exact synonym: Absent frontal sinus
has exact synonym: Missing frontal sinus
has narrow synonym: Aplasia of frontal sinus
has narrow synonym: Aplasia sinus frontalis
has OBO namespace: human_phenotype
id: HP:0002688
in subset: hposlim core
type: Class
subclass of: HP_0009119
notation: HP:0002688

Absent paranasal sinuses
tree view: HP_0005453
IAO_0000115: Aplasia of the paranasal sinuses.
has broad synonym: Missing sinuses
has db xref: UMLS:C1857131
has db xref: UMLS:C3804986
has db xref: UMLS:C4072844
has exact synonym: Absence of paranasal sinuses
has exact synonym: Missing paranasal sinuses
has narrow synonym: Aplasia of paranasal sinuses
has OBO namespace: human_phenotype
id: HP:0002689
type: Class
subclass of: HP_0005453
notation: HP:0002689

Large sella turcica
tree view: Abnormality of the sella turcica
IAO_0000115: An abnormal enlargement of the sella turcica.
has alternative id: HP:0005444
has db xref: UMLS:C1843677
has db xref: UMLS:C4072845
has db xref: UMLS:C4072846
has exact synonym: Big sella turcica
has exact synonym: Enlarged sella turcica
has exact synonym: Hyperplasia of sella turcica
has exact synonym: Prominent sella turcica
has narrow synonym: Hyperplasia of hypophysial fossa
has narrow synonym: Hyperplasia of pituitary fossa
has narrow synonym: Large hypophysial fossa
has narrow synonym: Large pituitary fossa
has OBO namespace: human_phenotype
id: HP:0002690
in subset: hposlim core
type: Class
subclass of: Abnormality of the sella turcica
notation: HP:0002690

Platybasia
tree view: Abnormality of calvarial morphology
IAO_0000115: A developmental malformation of the occipital bone and upper end of the cervical spine, in which the latter appears to have pushed the floor of the occipital bone upward such that there is an abnormal flattening of the skull base.
has broad synonym: Flattening of the skull base
has db xref: MSH:D010985
has db xref: SNOMEDCT_US:86587003
has db xref: UMLS:C0032209
has exact synonym: Increased basal angle of skull base
has exact synonym: Obtuse basal angle of skull base
has OBO namespace: human_phenotype
id: HP:0002691
in subset: hposlim core
type: Class
comment: Platybasia is malformation of the base of the skull due to softening of skull bones or a developmental anomaly, with bulging upwards of the floor of the posterior cranial fossa, upward displacement of the upper cervical vertebrae, and bony impingement on the brainstem. It results in abnormal obtuseness of the basal angle that can be demonstrated radiographically. If platybasia is associated with basilar invagination, compression of the brainstem and upper cervical cord can result. Basal Angle formed by: line joining the nasion with the centre of the pituitary fossa line joining the anterior border of the foramen magnum with the centre of the pituitary fossa normal: 125 degrees-143 degrees platybasia: > 143 degrees basilar kyphosis: < 125 degrees
subclass of: Abnormality of calvarial morphology
notation: HP:0002691

Hypoplastic facial bones
tree view: HP_0011821
has broad synonym: Hypoplasia of facial skeleton
has broad synonym: Small facial bones
has broad synonym: Small facial skeleton
has broad synonym: Underdevelopment of facial bones
has broad synonym: Underdevelopment of facial skeleton
has db xref: UMLS:C1846438
has db xref: UMLS:C4229090
has db xref: UMLS:C4280268
has db xref: UMLS:C4280557
has db xref: UMLS:C4280558
has exact synonym: Decreased size of facial bones
has exact synonym: Decreased size of facial skeleton
has OBO namespace: human_phenotype
has related synonym: Flattening of facial bones
has related synonym: Flattening of facial skeleton
has related synonym: Hypotrophic facial bones
has related synonym: Hypotrophic facial skeleton
id: HP:0002692
type: Class
subclass of: HP_0011821
notation: HP:0002692

Abnormality of the skull base
tree view: Abnormality of the skull
IAO_0000115: An abnormality of the base of the skull, which forms the floor of the cranial cavity and separates the brain from other facial structures. The skull base is made up of five bones: the ethmoid, sphenoid, occipital, paired frontal, and paired parietal bones, and is subdivided into 3 regions: the anterior, middle, and posterior cranial fossae. The petro-occipital fissure subdivides the middle cranial fossa into 1 central component and 2 lateral components.
has db xref: UMLS:C4025688
has exact synonym: Abnormality of cranial base
has exact synonym: Abnormality of the skull base
has OBO namespace: human_phenotype
id: HP:0002693
type: Class
subclass of: Abnormality of the skull
notation: HP:0002693

Sclerosis of skull base
tree view: Abnormality of the skull base
tree view: HP_0011001
IAO_0000115: Increased bone density of the skull base without significant changes in bony contour.
has alternative id: HP:0005757
has db xref: UMLS:C1851714
has db xref: UMLS:C4072847
has db xref: UMLS:C4072848
has exact synonym: Dense bone of skull base
has exact synonym: HyperOssification of skull base
has exact synonym: HyperOstosis of skull base
has exact synonym: Marked sclerosis of skull base
has exact synonym: Sclerosis of cranial base
has exact synonym: Sclerosis of the skull base
has exact synonym: Sclerotic skull base
has narrow synonym: HyperCalcification of skull base
has narrow synonym: HyperMineralization of skull base
has OBO namespace: human_phenotype
id: HP:0002694
type: Class
subclass of: Abnormality of the skull base
subclass of: HP_0011001
notation: HP:0002694

Symmetrical, oval parietal bone defects
tree view: Abnormal parietal bone morphology
has db xref: UMLS:C1865045
has exact synonym: Symmetrical, oval defects in the parietal bone
has OBO namespace: human_phenotype
id: HP:0002695
type: Class
subclass of: Abnormal parietal bone morphology
notation: HP:0002695

Abnormal parietal bone morphology
tree view: Abnormality of calvarial morphology
IAO_0000115: Any abnormality of the parietal bone of the skull.
has db xref: UMLS:C4021834
has exact synonym: Abnormality of the parietal bone
has exact synonym: Abnormality of the parietal bone of skull
has OBO namespace: human_phenotype
id: HP:0002696
type: Class
subclass of: Abnormality of calvarial morphology
notation: HP:0002696

Parietal foramina
tree view: Abnormal parietal bone morphology
IAO_0000115: The presence of symmetrical and circular openings (foramina) in the parietal bone ranging in size from a few millimeters to several centimeters wide.
has db xref: SNOMEDCT_US:11240000
has db xref: SNOMEDCT_US:29307005
has db xref: UMLS:C0222706
has db xref: UMLS:C4280556
has exact synonym: Persistent foramina of the parietal bones
has OBO namespace: human_phenotype
has related synonym: Holes in parietal bones
has related synonym: Openings in parietal bones
id: HP:0002697
type: Class
comment: Enlarged parietal foramina is an inherited condition of impaired skull development. It is characterized by enlarged openings (foramina) in the two bones (parietal bones) that form the top and sides of the skull. This condition is due to problems with bone formation (ossification) within the parietal bones. The openings are symmetrical and circular in shape, with variable size ranging from a few millimeters to several centimeters wide. Parietal foramina are a normal feature of fetal development, but they usually close by the fifth month of pregnancy.
subclass of: Abnormal parietal bone morphology
notation: HP:0002697

HP_0002698
IAO_0000231: IAO_0000227
IAO_0100001: Cranial hyperostosis
type: Class
deprecated: true
notation: HP:0002698

Abnormality of the foramen magnum
tree view: Abnormality of the skull
IAO_0000115: Any abnormality of the foramen magnum.
has db xref: UMLS:C4025687
has OBO namespace: human_phenotype
id: HP:0002699
in subset: hposlim core
type: Class
comment: The foramen magnum is the aperture through which the medulla oblongata enters and exits the skull.
subclass of: Abnormality of the skull
notation: HP:0002699

Large foramen magnum
tree view: Abnormality of the foramen magnum
IAO_0000115: An abnormal increase in the size of the foramen magnum.
has db xref: UMLS:C1844508
has db xref: UMLS:C4073291
has db xref: UMLS:C4280554
has db xref: UMLS:C4280555
has exact synonym: Big foramen magnum
has exact synonym: Dilation of foramen magnum
has exact synonym: Wide foramen magnum
has exact synonym: enlarged foramen magnum
has narrow synonym: Hyperplasia of foramen magnum
has narrow synonym: Increased circumference of foramen magnum
has narrow synonym: Increased diameter of foramen magnum
has OBO namespace: human_phenotype
id: HP:0002700
in subset: hposlim core
type: Class
subclass of: Abnormality of the foramen magnum
notation: HP:0002700

HP_0002701
IAO_0000231: IAO_0000227
IAO_0100001: HP_0005474
type: Class
deprecated: true
notation: HP:0002701

HP_0002702
IAO_0000231: IAO_0000227
IAO_0100001: HP_0005474
type: Class
deprecated: true
notation: HP:0002702

Abnormality of skull ossification
tree view: Abnormality of the skull
IAO_0000115: An abnormality of the process of ossification of the skull.
created by: peter
creation date: 2008-02-28T11:53:00Z
has broad synonym: Abnormality of skull bone formation
has db xref: UMLS:C4025686
has db xref: UMLS:C4280550
has db xref: UMLS:C4280551
has db xref: UMLS:C4280552
has db xref: UMLS:C4280553
has narrow synonym: Abnormality of ossification of calvarium
has narrow synonym: Abnormality of ossification of cranium
has OBO namespace: human_phenotype
has related synonym: Abnormality of bone calcification of calvarium
has related synonym: Abnormality of bone calcification of cranium
has related synonym: Abnormality of bone calcification of skull
has related synonym: Abnormality of bone formation of calvarium
has related synonym: Abnormality of bone formation of cranium
has related synonym: Abnormality of bone mineralization of calvarium
has related synonym: Abnormality of bone mineralization of cranium
has related synonym: Abnormality of bone mineralization of skull
id: HP:0002703
type: Class
comment: The bones of the skull derive directly from mesenchyme cells by intramembranous ossification.
subclass of: Abnormality of the skull
notation: HP:0002703

HP_0002704
IAO_0000231: IAO_0000227
IAO_0100001: Delayed cranial suture closure
type: Class
deprecated: true
notation: HP:0002704

High, narrow palate
tree view: Narrow palate
tree view: High palate
IAO_0000115: The presence of a high and narrow palate.
has db xref: UMLS:C1837404
has exact synonym: Gothic palate
has exact synonym: High arched palate
has exact synonym: High narrow palate
has exact synonym: High vaulted palate
has exact synonym: High, narrow palate
has exact synonym: Narrow and high arched palate
has exact synonym: Narrow, high-arched palate
has exact synonym: Narrow, high-arched roof of mouth
has exact synonym: Narrow, highly arched palate
has exact synonym: Narrow, highly arched roof of mouth
has exact synonym: Palate high-arched
has exact synonym: Palate, high-arched
has OBO namespace: human_phenotype
id: HP:0002705
type: Class
subclass of: Narrow palate
subclass of: High palate
notation: HP:0002705

HP_0002706
IAO_0000231: IAO_0000227
IAO_0100001: Shallow orbits
type: Class
deprecated: true
notation: HP:0002706

Palate telangiectasia
tree view: Abnormal palate morphology
tree view: Oral cavity telangiectasia
IAO_0000115: The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the palate.
has alternative id: HP:0000229
has db xref: UMLS:C1857699
has db xref: UMLS:C4280267
has exact synonym: Palatal angioectasia
has exact synonym: Palatal telangiectasia
has exact synonym: Palate telangiectases
has exact synonym: Palate teleangiectases
has exact synonym: Telangiectasia of the roof of the mouth
has OBO namespace: human_phenotype
has related synonym: Palatal spider veins
has related synonym: Spider veins of the roof of the mouth
id: HP:0002707
type: Class
subclass of: Abnormal palate morphology
subclass of: Oral cavity telangiectasia
notation: HP:0002707

Prominent median palatal raphe
tree view: Abnormal palate morphology
IAO_0000115: Unusual prominence of the median palatal raphe, which is the ridge formed by the fusion of the two plates of the skull that form the hard palate.
has db xref: UMLS:C1845108
has exact synonym: Prominent central palatal ridge
has exact synonym: Prominent central ridge on roof of the mouth
has exact synonym: Prominent medial palatal suture
has OBO namespace: human_phenotype
id: HP:0002708
type: Class
subclass of: Abnormal palate morphology
notation: HP:0002708

HP_0002709
IAO_0000231: IAO_0000227
IAO_0100001: Xerostomia
type: Class
deprecated: true
notation: HP:0002709

Commissural lip pit
tree view: HP_0100267
IAO_0000115: A depression located at an oral commissure.
has db xref: UMLS:C0399605
has exact synonym: Commissural labial pits
has exact synonym: Commissural pit
has exact synonym: Lip pits at corners of the mouth
has exact synonym: Pits at the corners of the lips
has OBO namespace: human_phenotype
id: HP:0002710
in subset: hposlim core
type: Class
comment: Commissural lip pits have no relationship to other forms of lip pits which may be located on the vermilion of the upper or lower lip, usually paramedian. Rather, commissural pits are located at the corners of the oral aperture.
subclass of: HP_0100267
notation: HP:0002710

Exaggerated median tongue furrow
tree view: Furrowed tongue
IAO_0000115: Increased depth of the median tongue furrow.
has db xref: UMLS:C1845109
has exact synonym: Deep central lingual furrow
has exact synonym: Deep central lingual groove
has exact synonym: Deep central tongue furrow
has exact synonym: Deep central tongue groove
has exact synonym: Deep median lingual furrow
has exact synonym: Deep median lingual groove
has exact synonym: Deep median tongue furrow
has exact synonym: Deep median tongue groove
has exact synonym: Exaggerated median lingual furrow
has OBO namespace: human_phenotype
id: HP:0002711
type: Class
subclass of: Furrowed tongue
notation: HP:0002711

HP_0002712
IAO_0000231: IAO_0000227
IAO_0100001: Everted lower lip vermilion
type: Class
deprecated: true
notation: HP:0002712

HP_0002713
IAO_0000231: IAO_0000227
IAO_0100001: HP_0007328
type: Class
deprecated: true
notation: HP:0002713

Downturned corners of mouth
tree view: HP_0011338
IAO_0000115: A morphological abnormality of the mouth in which the angle of the mouth is downturned. The oral commissures are positioned inferior to the midline labial fissure.
has alternative id: HP:0000192
has db xref: UMLS:C1866195
has exact synonym: Downturned corners of mouth
has exact synonym: Downturned corners of the mouth
has exact synonym: Downturned mouth
has exact synonym: Downturned oral commisures
has OBO namespace: human_phenotype
id: HP:0002714
in subset: hposlim core
type: Class
comment: This finding should be assessed with the mouth closed, the lips in relaxed contact, and the face relaxed. The finding may be difficult to assess if the lower lip is enlarged. Previous terms for downturned corners of mouth included Carp mouth andFish mouth which are no longer recommended (pejorative terms).
subclass of: HP_0011338
notation: HP:0002714

Abnormality of the immune system
tree view: Phenotypic abnormality
IAO_0000115: An abnormality of the immune system.
has alternative id: HP:0003257
has alternative id: HP:0003346
has alternative id: HP:0010986
has db xref: UMLS:C4021753
has exact synonym: Abnormality of the immune system
has exact synonym: Immunological abnormality
has OBO namespace: human_phenotype
id: HP:0002715
type: Class
comment: The immune system is composed of organs and interdependent cell types that collectively protect the body from infections and from the growth of tumor cells. The organs of the immune system comprise the bone marrow, the spleen, the thymus,the lymph nodes, and the cell types comprise B cells, T cells, natural killer cells, granulocytes,dendritic cells, and macrophages.
subclass of: Phenotypic abnormality
notation: HP:0002715

Lymphadenopathy
tree view: Abnormality of the lymph nodes
IAO_0000115: Enlargment (swelling) of a lymph node.
has alternative id: HP:0002735
has db xref: MSH:D000072281
has db xref: SNOMEDCT_US:30746006
has db xref: UMLS:C0497156
has exact synonym: Lymph node hyperplasia
has exact synonym: Swollen lymph nodes
has OBO namespace: human_phenotype
id: HP:0002716
type: Class
subclass of: Abnormality of the lymph nodes
notation: HP:0002716

Adrenal overactivity
tree view: HP_0011733
created by: peter
creation date: 2008-02-25T10:41:00Z
has db xref: UMLS:C4025685
has OBO namespace: human_phenotype
id: HP:0002717
type: Class
comment: Cortisol is the main member of the glucocorticoid family in humans and together with aldosterone is one of the main secretions of the adrenal cortex.
subclass of: HP_0011733
notation: HP:0002717

Recurrent bacterial infections
tree view: Recurrent infections
IAO_0000115: Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection.
has alternative id: HP:0005355
has alternative id: HP:0005361
has alternative id: HP:0005367
has alternative id: HP:0005391
has alternative id: HP:0005393
has alternative id: HP:0005410
has db xref: SNOMEDCT_US:428875002
has db xref: UMLS:C1844383
has db xref: UMLS:C2748958
has db xref: UMLS:C4020846
has exact synonym: Bacterial infections, recurrent
has exact synonym: Frequent bacterial infections
has exact synonym: Frequent pyogenic infections
has exact synonym: Increased susceptibility to bacterial infections
has exact synonym: Recurrent bacterial infections
has exact synonym: Recurrent major bacterial infections
has exact synonym: Recurrent pyogenic infections
has exact synonym: Susceptibility to pyogenic infection
has OBO namespace: human_phenotype
has related synonym: Prone to bacterial infection
id: HP:0002718
type: Class
subclass of: Recurrent infections
notation: HP:0002718

Recurrent infections
tree view: HP_0032101
IAO_0000115: Increased susceptibility to infections.
has alternative id: HP:0002957
has alternative id: HP:0002964
has alternative id: HP:0005405
has db xref: UMLS:C0239998
has exact synonym: Frequent infections
has exact synonym: Frequent, severe infections
has exact synonym: Increased frequency of infection
has exact synonym: Predisposition to infections
has exact synonym: Recurrent infections
has exact synonym: Susceptibility to infection
has exact synonym: infections, recurrent
has OBO namespace: human_phenotype
id: HP:0002719
type: Class
subclass of: HP_0032101
notation: HP:0002719

Decreased circulating IgA level
tree view: Decreased antibody level in blood
tree view: HP_0410240
IAO_0000115: Decreased levels of immunoglobulin A (IgA).
has alternative id: HP:0005358
has alternative id: HP:0005399
has alternative id: HP:0005431
has alternative id: HP:0008350
has db xref: MSH:D017098
has db xref: SNOMEDCT_US:29260007
has db xref: UMLS:C0162538
has exact synonym: Decreased IgA
has exact synonym: Decreased immunoglobulin A
has exact synonym: Gamma-A globulin deficiency
has exact synonym: IgA deficiency
has exact synonym: Low levels of immunoglobulin A
has exact synonym: Reduced IgA levels
has OBO namespace: human_phenotype
id: HP:0002720
type: Class
subclass of: Decreased antibody level in blood
subclass of: HP_0410240
notation: HP:0002720

Immunodeficiency
tree view: HP_0010978
IAO_0000115: Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance.
has alternative id: HP:0005362
has alternative id: HP:0005371
has db xref: MSH:D007153
has db xref: SNOMEDCT_US:234532001
has db xref: UMLS:C0021051
has exact synonym: Decreased immune function
has exact synonym: Immune deficiency
has OBO namespace: human_phenotype
id: HP:0002721
type: Class
subclass of: HP_0010978
notation: HP:0002721

Recurrent abscess formation
tree view: Recurrent infections
IAO_0000115: An increased susceptibility to abscess formation, as manifested by a medical history of recurrent abscesses.
has db xref: UMLS:C4025684
has OBO namespace: human_phenotype
id: HP:0002722
type: Class
subclass of: Recurrent infections
notation: HP:0002722

Absence of bactericidal oxidative respiratory burst in phagocytes
tree view: HP_0010977
IAO_0000115: An absence of the phase of elevated metabolic activity, during which oxygen consumption increases, that occurs in neutrophils, monocytes, and macrophages shortly after phagocytosing material. An enhanced uptake of oxygen leads to the production, by an NADH dependent system, of hydrogen peroxide (H2O2), superoxide anions and hydroxyl radicals, which play a part in microbiocidal activity.
has db xref: UMLS:C1844385
has OBO namespace: human_phenotype
id: HP:0002723
type: Class
subclass of: HP_0010977
notation: HP:0002723

Recurrent Aspergillus infections
tree view: Recurrent fungal infections
IAO_0000115: An increased susceptibility to Aspergillus infections, as manifested by a history of recurrent episodes of Aspergillus infections.
has db xref: UMLS:C4021752
has exact synonym: Aspergillus infections, recurrent
has OBO namespace: human_phenotype
id: HP:0002724
type: Class
subclass of: Recurrent fungal infections
notation: HP:0002724

Systemic lupus erythematosus
tree view: Autoimmunity
IAO_0000115: A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes.
has db xref: MSH:D008180
has db xref: SNOMEDCT_US:55464009
has db xref: UMLS:C0024141
has exact synonym: SLE
has OBO namespace: human_phenotype
id: HP:0002725
type: Class
comment: This is a bundled term that describes a disease rather than a phenotypic feature, but is left for convenience for annotations of lupus conceived of as a feature of another disease.
subclass of: Autoimmunity
notation: HP:0002725

Recurrent Staphylococcus aureus infections
tree view: HP_0007499
IAO_0000115: Increased susceptibility to Staphylococcus aureus infections, as manifested by recurrent episodes of Staphylococcus aureus infection.
has db xref: UMLS:C2673462
has exact synonym: Staphylococcus aureus infections, recurrent
has OBO namespace: human_phenotype
id: HP:0002726
type: Class
subclass of: HP_0007499
notation: HP:0002726

HP_0002727
IAO_0000231: IAO_0000227
IAO_0100001: HP_0011123
type: Class
deprecated: true
notation: HP:0002727

Chronic mucocutaneous candidiasis
tree view: HP_0011370
IAO_0000115: Recurrent or persistent superficial Candida infections of the skin, mucous membranes, and nails.
has alternative id: HP:0005392
has db xref: MSH:D002178
has db xref: SNOMEDCT_US:234568006
has db xref: UMLS:C0006845
has exact synonym: Chronic candidiasis of mucosa, skin and nails
has exact synonym: Mucocutaneous candidiasis
has OBO namespace: human_phenotype
id: HP:0002728
type: Class
comment: The most commonly involved Candida species is Candida albicans. Chronic mucocutaneous candidiasis (CMC) is usually confined to the cutaneous surface without systemic dissemination. CMC does not represent a specific disease, but rather a phenotypic feature of several immunologic, endocrinologic, and autoimmune disorders.
subclass of: HP_0011370
notation: HP:0002728

Follicular hyperplasia
tree view: Lymphadenopathy
IAO_0000115: Lymphadenopathy (enlargement of lymph nodes) owing to hyperplasia of follicular (germinal) centers.
has db xref: UMLS:C4014733
has OBO namespace: human_phenotype
id: HP:0002729
type: Class
comment: Lymphadenopathy can be defined as enlargement of lymph nodes. It is just a sign accompanying a great variety of entities with multiple etiologies: acute vs. chronic, benign vs. malignant. One of the most commonly seen histological pictures is lymphadenopathy owing to hyperplasia of follicular (germinal centers) but this one is by far not the only one (See Gaddey HL et al. Unexplained Lymphadenopathy: Evaluation and Differential Diagnosis. Am Fam Physician. 2016 1;94:896-903 and Weiss LM. et al. Benign lymphadenopathies. Mod Pathol. 2013;26 Suppl 1:S88-96).
subclass of: Lymphadenopathy
notation: HP:0002729

Chronic noninfectious lymphadenopathy
tree view: Lymphadenopathy
IAO_0000115: A chronic form of lymphadenopathy that is not related to infection.
has db xref: UMLS:C1858970
has OBO namespace: human_phenotype
id: HP:0002730
type: Class
subclass of: Lymphadenopathy
notation: HP:0002730

Decreased lymphocyte apoptosis
tree view: HP_0030886
IAO_0000115: A reduction in the rate of apoptosis in lymphocytes.
has db xref: UMLS:C1858969
has exact synonym: Defective lymphocyte apoptosis
has OBO namespace: human_phenotype
id: HP:0002731
type: Class
comment: Apoptosis, a form of programmed cell death, is an important mechanism that prevents uncontrolled proliferation of activated lymphocytes and regulates lymphocyte homeostasis.
subclass of: HP_0030886
notation: HP:0002731

Lymph node hypoplasia
tree view: Abnormality of the lymph nodes
IAO_0000115: Underdevelopment of the lymph nodes.
has db xref: UMLS:C1865377
has db xref: UMLS:C4025683
has OBO namespace: human_phenotype
has related synonym: Small lymph nodes
id: HP:0002732
type: Class
subclass of: Abnormality of the lymph nodes
notation: HP:0002732

Abnormality of the lymph nodes
tree view: HP_0100763
IAO_0000115: A lymph node abnormality.
has alternative id: HP:0008149
has db xref: UMLS:C0149727
has exact synonym: Abnormal lymph node histology
has exact synonym: Abnormality of the lymph nodes
has OBO namespace: human_phenotype
id: HP:0002733
type: Class
subclass of: HP_0100763
notation: HP:0002733

HP_0002734
IAO_0000231: IAO_0000227
IAO_0100001: Abnormal T cell morphology
type: Class
deprecated: true
notation: HP:0002734

HP_0002735
IAO_0000231: IAO_0000227
IAO_0100001: Lymphadenopathy
type: Class
deprecated: true
notation: HP:0002735

HP_0002736
IAO_0000231: IAO_0000227
IAO_0100001: Encephalocele
type: Class
deprecated: true
notation: HP:0002736

Thick skull base
tree view: Abnormality of the skull base
has db xref: UMLS:C1839507
has exact synonym: Increased thickness of bone of skull base
has exact synonym: Increased thickness of skull base
has exact synonym: Thick skull base
has OBO namespace: human_phenotype
id: HP:0002737
type: Class
subclass of: Abnormality of the skull base
notation: HP:0002737

Hypoplastic frontal sinuses
tree view: HP_0009119
IAO_0000115: Underdevelopment of frontal sinus.
has db xref: UMLS:C1859682
has db xref: UMLS:C4280548
has db xref: UMLS:C4280549
has exact synonym: Decreased volume of frontal sinuses
has exact synonym: Small frontal sinuses
has exact synonym: Underdeveloped frontal sinuses
has narrow synonym: Decreased pneumatization of frontal sinus
has OBO namespace: human_phenotype
has related synonym: Hypotrophic frontal sinus
id: HP:0002738
type: Class
subclass of: HP_0009119
notation: HP:0002738

HP_0002739
IAO_0000231: IAO_0000227
IAO_0100001: Coronal craniosynostosis
type: Class
deprecated: true
notation: HP:0002739

Recurrent E. coli infections
tree view: HP_0005420
IAO_0000115: Increased susceptibility to infections with Escherichia coli, as manifested by recurrent episodes of infection with this agent.
has db xref: MSH:D004927
has db xref: SNOMEDCT_US:71057007
has db xref: UMLS:C0014836
has exact synonym: E coli infections
has exact synonym: E coli infections, recurrent
has OBO namespace: human_phenotype
id: HP:0002740
type: Class
subclass of: HP_0005420
notation: HP:0002740

Recurrent Serratia marcescens infections
tree view: HP_0005420
IAO_0000115: Increased susceptibility to Serratia marcescens infections, as manifested by recurrent episodes of Serratia marcescens infection.
has db xref: UMLS:C4025682
has OBO namespace: human_phenotype
id: HP:0002741
type: Class
subclass of: HP_0005420
notation: HP:0002741

Recurrent Klebsiella infections
tree view: HP_0005420
IAO_0000115: Increased susceptibility to Klebsiella infections, as manifested by recurrent episodes of Klebsiella infection.
has db xref: UMLS:C4021751
has exact synonym: Klebsiella infections, recurrent
has OBO namespace: human_phenotype
id: HP:0002742
type: Class
subclass of: HP_0005420
notation: HP:0002742

Recurrent enteroviral infections
tree view: Recurrent viral infections
IAO_0000115: Increased susceptibility to enteroviral infections, as manifested by recurrent episodes of enteroviral infection.
has db xref: UMLS:C4025681
has OBO namespace: human_phenotype
id: HP:0002743
type: Class
subclass of: Recurrent viral infections
notation: HP:0002743

Bilateral cleft lip and palate
tree view: HP_0100336
tree view: HP_0100337
IAO_0000115: Cleft lip and cleft palate affecting both sides of the face.
has db xref: SNOMEDCT_US:1085331000119107
has db xref: UMLS:C1398522
has exact synonym: Bilateral cleft lip and cleft palate
has exact synonym: Right and left cleft lip and palate
has OBO namespace: human_phenotype
id: HP:0002744
type: Class
subclass of: HP_0100336
subclass of: HP_0100337
notation: HP:0002744

Oral leukoplakia
tree view: HP_0025125
IAO_0000115: A thickened white patch on the oral mucosa that cannot be rubbed off.
has db xref: MSH:D007971
has db xref: MSH:D007972
has db xref: SNOMEDCT_US:414603003
has db xref: SNOMEDCT_US:9187004
has db xref: UMLS:C0023532
has db xref: UMLS:C1704317
has exact synonym: Oral idiopathic keratosis
has exact synonym: Oral idiopathic leukoplakia
has exact synonym: Oral idiopathic white patch
has exact synonym: Oral leucoplakia
has exact synonym: Oral leukokeratosis
has exact synonym: Oral leukoplasia
has exact synonym: Oral white patch
has exact synonym: Oral white plaque
has exact synonym: leukokeratosis
has OBO namespace: human_phenotype
id: HP:0002745
in subset: hposlim core
type: Class
comment: The definition of oral leukoplakia states that the lesion be characterized clinically or histologically as any other condition, and is not associated with any physical or chemical causative agent except tobacco. Leukoplakia is a precancerous lesion, i.e. a morphologically altered tissue in which cancer is more likely to occur than in its apparently normal counterpart.
subclass of: HP_0025125
notation: HP:0002745

HP_0002746
IAO_0000231: IAO_0000227
IAO_0100001: Submucous cleft hard palate
type: Class
deprecated: true
notation: HP:0002746

Respiratory insufficiency due to muscle weakness
tree view: Respiratory insufficiency
tree view: Weakness of muscles of respiration
has alternative id: HP:0004882
has alternative id: HP:0004888
has db xref: UMLS:C3806467
has exact synonym: Decreased lung function due to weak breathing muscles
has exact synonym: Decreased respiratory function due to muscle weakness
has exact synonym: Respiratory distress due to muscle weakness
has exact synonym: Respiratory failure due to muscle weakness
has exact synonym: Respiratory muscle weakness
has OBO namespace: human_phenotype
id: HP:0002747
type: Class
subclass of: Respiratory insufficiency
subclass of: Weakness of muscles of respiration
notation: HP:0002747

Rickets
tree view: Reduced bone mineral density
IAO_0000115: Rickets is divided into two major categories including calcipenic and phosphopenic. Hypophosphatemia is described as a common manifestation of both categories. Hypophosphatemic rickets is the most common type of rickets that is characterized by low levels of serum phosphate, resistance to ultraviolet radiation or vitamin D intake. There are several issues involved in hypophosphatemic rickets such as calcium, vitamin D, phosphorus deficiencies. Moreover, other disorder can be associated with its occurrence such as absorption defects due to pancreatic, intestinal, gastric, and renal disorders and hepatobiliary disease. Symptoms are usually seen in childhood and can be varied in severity. Severe forms may be linked to bowing of the legs, poor bone growth, and short stature as well as joint and bone pain. Hypophosphatemic rickets are associated with renal excretion of phosphate, hypophosphatemia, and mineral defects in bones. The familial type of the disease is the most common type of rickets.
has db xref: MSH:D012279
has db xref: SNOMEDCT_US:41345002
has db xref: UMLS:C0035579
has exact synonym: Weak and soft bones
has OBO namespace: human_phenotype
id: HP:0002748
type: Class
subclass of: Reduced bone mineral density
notation: HP:0002748

Osteomalacia
tree view: Reduced bone mineral density
IAO_0000115: Osteomalacia is a general term for bone weakness owing to a defect in mineralization of the protein framework known as osteoid. This defective mineralization is mainly caused by lack in vitamin D. Osteomalacia in children is known as rickets.
has db xref: SNOMEDCT_US:4598005
has db xref: UMLS:C0029442
has exact synonym: Softening of the bones
has OBO namespace: human_phenotype
id: HP:0002749
type: Class
subclass of: Reduced bone mineral density
notation: HP:0002749

Delayed skeletal maturation
tree view: Abnormality of skeletal maturation
IAO_0000115: A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.
has alternative id: HP:0000928
has alternative id: HP:0002806
has db xref: SNOMEDCT_US:123983008
has db xref: UMLS:C0541764
has exact synonym: Delayed bone age
has exact synonym: Delayed bone age before puberty
has exact synonym: Delayed bone maturation
has exact synonym: Delayed skeletal development
has exact synonym: Retarded bone age
has exact synonym: Skeletal maturation retardation
has OBO namespace: human_phenotype
has related synonym: Retarded ossification
id: HP:0002750
type: Class
subclass of: Abnormality of skeletal maturation
notation: HP:0002750

Kyphoscoliosis
tree view: Scoliosis
tree view: Kyphosis
IAO_0000115: An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane.
has alternative id: HP:0003412
has alternative id: HP:0003424
has alternative id: HP:0004593
has alternative id: HP:0005728
has db xref: SNOMEDCT_US:405773007
has db xref: UMLS:C0575158
has OBO namespace: human_phenotype
id: HP:0002751
type: Class
subclass of: Scoliosis
subclass of: Kyphosis
notation: HP:0002751

Sparse bone trabeculae
tree view: HP_0100671
has db xref: UMLS:C1833324
has OBO namespace: human_phenotype
id: HP:0002752
type: Class
subclass of: HP_0100671
notation: HP:0002752

Thin bony cortex
tree view: Abnormal cortical bone morphology
IAO_0000115: Abnormal thinning of the cortical region of bones.
has alternative id: HP:0003104
has db xref: UMLS:C1833325
has exact synonym: Thin cortices
has OBO namespace: human_phenotype
id: HP:0002753
type: Class
subclass of: Abnormal cortical bone morphology
notation: HP:0002753

Osteomyelitis
tree view: HP_0011843
tree view: HP_0012649
IAO_0000115: Osteomyelitis is an inflammatory process accompanied by bone destruction and caused by an infecting microorganism.
has alternative id: HP:0002755
has alternative id: HP:0005901
has db xref: MSH:D010019
has db xref: SNOMEDCT_US:111253001
has db xref: SNOMEDCT_US:60168000
has db xref: UMLS:C0029443
has db xref: UMLS:C2242472
has exact synonym: Bone infection
has OBO namespace: human_phenotype
id: HP:0002754
type: Class
comment: Osteomyelitis can be acute or chronic and can be caused by a variety of microbial agents.
subclass of: HP_0011843
subclass of: HP_0012649
notation: HP:0002754

obsolete Osteomyelitis due to immunodeficiency
IAO_0000231: IAO_0000227
IAO_0100001: Osteomyelitis
IAO_0100001: HP:0002754
has OBO namespace: human_phenotype
id: HP:0002755
type: Class
deprecated: true
notation: HP:0002755

Pathologic fracture
tree view: Increased susceptibility to fractures
IAO_0000115: A pathologic fracture occurs when a bone breaks in an area that is weakened secondary to another disease process such as tumor, infection, and certain inherited bone disorders. A pathologic fracture can occur without a degree of trauma required to cause fracture in healthy bone.
has alternative id: HP:0005633
has db xref: MSH:D005598
has db xref: SNOMEDCT_US:22640007
has db xref: SNOMEDCT_US:268029009
has db xref: UMLS:C0016663
has exact synonym: Spontaneous fracture
has OBO namespace: human_phenotype
has related synonym: Pathologic fractures
has related synonym: Spontaneous fractures
id: HP:0002756
type: Class
subclass of: Increased susceptibility to fractures
notation: HP:0002756

Recurrent fractures
tree view: Increased susceptibility to fractures
IAO_0000115: The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture).
has alternative id: HP:0002660
has alternative id: HP:0002767
has alternative id: HP:0002809
has db xref: MSH:D000069076
has db xref: SNOMEDCT_US:134291007
has db xref: SNOMEDCT_US:5468008
has db xref: UMLS:C0016655
has db xref: UMLS:C1833752
has db xref: UMLS:C3805574
has db xref: UMLS:C3806283
has exact synonym: Frequent fractures
has exact synonym: Increased fracture rate
has exact synonym: Increased fractures
has exact synonym: Multiple fractures
has exact synonym: Multiple spontaneous fractures
has exact synonym: Recurrent fractures
has exact synonym: Varying degree of multiple fractures
has OBO namespace: human_phenotype
id: HP:0002757
type: Class
comment: This term will be made obsolete. The annotations need to be checked.
subclass of: Increased susceptibility to fractures
notation: HP:0002757

Osteoarthritis
tree view: Arthritis
IAO_0000115: Degeneration (wear and tear) of articular cartilage, i.e., of the joint surface. Joint degeneration may be accompanied by osteophytes (bone overgrowth), narrowing of the joint space, regions of sclerosis at the joint surface, or joint deformity.
has alternative id: HP:0001379
has alternative id: HP:0002824
has alternative id: HP:0005762
has db xref: MSH:D010003
has db xref: SNOMEDCT_US:225655006
has db xref: SNOMEDCT_US:396275006
has db xref: UMLS:C0029408
has exact synonym: Degenerative joint disease
has OBO namespace: human_phenotype
id: HP:0002758
type: Class
subclass of: Arthritis
notation: HP:0002758

HP_0002759
IAO_0000231: IAO_0000227
IAO_0100001: Arthrogryposis multiplex congenita
type: Class
deprecated: true
notation: HP:0002759

HP_0002760
IAO_0000231: IAO_0000227
IAO_0100001: Dysostosis multiplex
type: Class
deprecated: true
notation: HP:0002760

Generalized joint laxity
tree view: Joint hypermobility
IAO_0000115: Joint hypermobility (ability of a joint to move beyond its normal range of motion) affecting many or all joints of the body.
has db xref: UMLS:C1836308
has exact synonym: Hypermobility of all joints
has exact synonym: Increased joint mobility
has OBO namespace: human_phenotype
has related synonym: Joint laxity, generalized
id: HP:0002761
type: Class
subclass of: Joint hypermobility
notation: HP:0002761

Multiple exostoses
tree view: HP_0100777
IAO_0000115: Presence of more than one exostosis. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage.
has db xref: MSH:D005097
has db xref: SNOMEDCT_US:254044004
has db xref: UMLS:C0015306
has OBO namespace: human_phenotype
id: HP:0002762
type: Class
subclass of: HP_0100777
notation: HP:0002762

Abnormal cartilage morphology
tree view: HP_0011842
IAO_0000115: Any morphological abnormality of cartilage.
has db xref: UMLS:C4025680
has exact synonym: Abnormal shape of cartilage
has OBO namespace: human_phenotype
id: HP:0002763
type: Class
subclass of: HP_0011842
notation: HP:0002763

Stippled chondral calcification
tree view: Calcific stippling
tree view: HP_0100593
has db xref: UMLS:C4025679
has OBO namespace: human_phenotype
id: HP:0002764
type: Class
subclass of: Calcific stippling
subclass of: HP_0100593
notation: HP:0002764

HP_0002765
IAO_0000231: IAO_0000227
IAO_0100001: HP_0010582
type: Class
deprecated: true
notation: HP:0002765

Relatively short spine
tree view: HP_0008518
has db xref: UMLS:C3277114
has exact synonym: Relatively short spine
has OBO namespace: human_phenotype
id: HP:0002766
type: Class
subclass of: HP_0008518
notation: HP:0002766

HP_0002767
IAO_0000231: IAO_0000227
IAO_0100001: Recurrent fractures
type: Class
deprecated: true
notation: HP:0002767

HP_0002768
IAO_0000231: IAO_0000227
IAO_0100001: Osteopenia
type: Class
deprecated: true
notation: HP:0002768

HP_0002769
IAO_0000231: IAO_0000227
IAO_0100001: Kyphosis
type: Class
deprecated: true
notation: HP:0002769

HP_0002770
IAO_0000231: IAO_0000227
IAO_0100001: Scoliosis
type: Class
deprecated: true
notation: HP:0002770

HP_0002771
IAO_0000231: IAO_0000227
IAO_0100001: Joint laxity
type: Class
deprecated: true
notation: HP:0002771

HP_0002772
IAO_0000231: IAO_0000227
IAO_0100001: Joint dislocation
type: Class
deprecated: true
notation: HP:0002772

obsolete Small vertebral bodies
IAO_0000231: IAO_0000227
IAO_0100001: HP_0008479
IAO_0100001: HP:0008479
has OBO namespace: human_phenotype
id: HP:0002773
type: Class
deprecated: true
notation: HP:0002773

HP_0002774
IAO_0000231: IAO_0000227
IAO_0100001: Osteoporosis
type: Class
deprecated: true
notation: HP:0002774

HP_0002775
IAO_0000231: IAO_0000227
IAO_0100001: Joint stiffness
type: Class
deprecated: true
notation: HP:0002775

HP_0002776
IAO_0000231: IAO_0000227
IAO_0100001: Spondyloepiphyseal dysplasia
type: Class
deprecated: true
notation: HP:0002776

Tracheal stenosis
tree view: Abnormal trachea morphology
has db xref: MSH:D014135
has db xref: SNOMEDCT_US:11296007
has db xref: UMLS:C0040583
has exact synonym: Narrowing of windpipe
has OBO namespace: human_phenotype
id: HP:0002777
type: Class
subclass of: Abnormal trachea morphology
notation: HP:0002777

Abnormal trachea morphology
tree view: HP_0005607
IAO_0000115: A structural anomaly of the trachea.
has db xref: MSH:D014133
has db xref: SNOMEDCT_US:47125007
has db xref: UMLS:C0040580
has db xref: UMLS:C4025678
has exact synonym: Abnormality of the trachea
has OBO namespace: human_phenotype
has related synonym: Tracheal disease
id: HP:0002778
type: Class
subclass of: HP_0005607
notation: HP:0002778

Tracheomalacia
tree view: Abnormal trachea morphology
has db xref: MSH:D055090
has db xref: SNOMEDCT_US:95434006
has db xref: UMLS:C0948187
has exact synonym: Floppy widepipe
has OBO namespace: human_phenotype
id: HP:0002779
type: Class
subclass of: Abnormal trachea morphology
notation: HP:0002779

Bronchomalacia
tree view: HP_0025426
has db xref: MSH:D055091
has db xref: SNOMEDCT_US:54203008
has db xref: UMLS:C0264353
has OBO namespace: human_phenotype
id: HP:0002780
type: Class
subclass of: HP_0025426
notation: HP:0002780

Upper airway obstruction
tree view: Functional respiratory abnormality
IAO_0000115: Increased resistance to the passage of air in the upper airway.
has db xref: UMLS:C0740852
has exact synonym: Upper airway obstruction
has OBO namespace: human_phenotype
id: HP:0002781
in subset: hposlim core
type: Class
subclass of: Functional respiratory abnormality
notation: HP:0002781

HP_0002782
IAO_0000231: IAO_0000227
IAO_0100001: Recurrent respiratory infections
type: Class
deprecated: true
notation: HP:0002782

Recurrent lower respiratory tract infections
tree view: Recurrent respiratory infections
IAO_0000115: An increased susceptibility to lower respiratory tract infections as manifested by a history of recurrent lower respiratory tract infections.
has alternative id: HP:0004884
has alternative id: HP:0005955
has db xref: SNOMEDCT_US:448739000
has db xref: SNOMEDCT_US:50417007
has db xref: UMLS:C0149725
has db xref: UMLS:C0585953
has db xref: UMLS:C3163798
has exact synonym: Chronic lung infections
has exact synonym: Lower respiratory tract infections
has exact synonym: Recurrent chest infections
has OBO namespace: human_phenotype
id: HP:0002783
type: Class
subclass of: Recurrent respiratory infections
notation: HP:0002783

HP_0002784
IAO_0000231: IAO_0000227
IAO_0100001: Recurrent upper respiratory tract infections
type: Class
deprecated: true
notation: HP:0002784

HP_0002785
IAO_0000231: IAO_0000227
IAO_0100001: Recurrent bronchitis
type: Class
deprecated: true
notation: HP:0002785

Tracheobronchomalacia
tree view: Tracheomalacia
tree view: Bronchomalacia
IAO_0000115: Weakness of the cartilage in the trachea and the bronchi, resulting in a floppy (non-rigid) airway. Affected persons may have difficulties to maintain patency of the airways.
has db xref: MSH:D055089
has db xref: SNOMEDCT_US:233788001
has db xref: UMLS:C0340231
has OBO namespace: human_phenotype
id: HP:0002786
type: Class
subclass of: Tracheomalacia
subclass of: Bronchomalacia
notation: HP:0002786

Tracheal calcification
tree view: Abnormal trachea morphology
tree view: HP_0010766
IAO_0000115: Calcification (abnormal deposits of calcium) in the tracheal tissues.
has db xref: SNOMEDCT_US:81089005
has db xref: UMLS:C0264324
has exact synonym: Calcification of the trachea
has exact synonym: Tracheal calcifications
has exact synonym: Tracheal ectopic calcification
has OBO namespace: human_phenotype
id: HP:0002787
type: Class
subclass of: Abnormal trachea morphology
subclass of: HP_0010766
notation: HP:0002787

Recurrent upper respiratory tract infections
tree view: Abnormality of the nasopharynx
tree view: Recurrent respiratory infections
IAO_0000115: An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis).
has alternative id: HP:0001740
has alternative id: HP:0002784
has db xref: SNOMEDCT_US:195708003
has db xref: UMLS:C0581381
has exact synonym: Frequent upper respiratory infections
has exact synonym: Frequent upper respiratory tract infections
has exact synonym: Recurrent URI
has exact synonym: Recurrent colds
has exact synonym: Recurrent upper respiratory and lower respiratory infections
has exact synonym: Recurrent upper respiratory infection
has exact synonym: Recurrent upper respiratory infections
has exact synonym: Upper respiratory tract infections
has exact synonym: Upper respiratory tract infections, recurrent
has OBO namespace: human_phenotype
id: HP:0002788
type: Class
subclass of: Abnormality of the nasopharynx
subclass of: Recurrent respiratory infections
notation: HP:0002788

Tachypnea
tree view: Abnormal pattern of respiration
IAO_0000115: Very rapid breathing.
has alternative id: HP:0002874
has alternative id: HP:0004346
has db xref: MSH:D059246
has db xref: SNOMEDCT_US:271823003
has db xref: UMLS:C0231835
has exact synonym: Increased respiratory rate or depth of breathing
has exact synonym: Polypnea
has OBO namespace: human_phenotype
id: HP:0002789
type: Class
comment: In adults, a beathing rate of between 12-20 breaths per minute is normal and tachypnea is present with a ventilatory rate greater than 20 breaths per minute.
subclass of: Abnormal pattern of respiration
notation: HP:0002789

Neonatal breathing dysregulation
tree view: HP_0005957
has db xref: UMLS:C3806216
has exact synonym: Impaired breathing in newborn
has OBO namespace: human_phenotype
id: HP:0002790
type: Class
subclass of: HP_0005957
notation: HP:0002790

Hypoventilation
tree view: Abnormal pattern of respiration
IAO_0000115: A reduction in the amount of air transported into the pulmonary alveoli by breathing, leading to hypercapnia (increase in the partial pressure of carbon dioxide).
has alternative id: HP:0004892
has db xref: MSH:D007040
has db xref: MSH:D012131
has db xref: SNOMEDCT_US:15993004
has db xref: SNOMEDCT_US:31515003
has db xref: SNOMEDCT_US:80954004
has db xref: UMLS:C0235063
has db xref: UMLS:C3203358
has exact synonym: Alveolar hypoventilation
has exact synonym: Slow breathing
has exact synonym: Under breathing
has OBO namespace: human_phenotype
has related synonym: Respiratory depression
id: HP:0002791
type: Class
comment: Not to be confused with Hypopnea, where the partial pressure of carbon dioxide can remain normal.
subclass of: Abnormal pattern of respiration
notation: HP:0002791

Reduced vital capacity
tree view: Functional respiratory abnormality
IAO_0000115: An abnormal reduction on the vital capacity, which is defined as the total lung capacity (volume of air in the lungs at maximal inflation) less the residual volume (i.e., volume of air in the lungs following maximal exhalation) of the lung.
has db xref: SNOMEDCT_US:274715008
has db xref: SNOMEDCT_US:607007
has db xref: UMLS:C0476408
has db xref: UMLS:C0520831
has exact synonym: Decreased vital capacity
has OBO namespace: human_phenotype
id: HP:0002792
type: Class
subclass of: Functional respiratory abnormality
notation: HP:0002792

Abnormal pattern of respiration
tree view: Functional respiratory abnormality
IAO_0000115: An anomaly of the rhythm or depth of breathing.
has db xref: UMLS:C1837388
has exact synonym: Abnormal pattern of respiration
has exact synonym: Abnormal respiratory patterns
has exact synonym: Unusual breathing patterns
has OBO namespace: human_phenotype
id: HP:0002793
type: Class
subclass of: Functional respiratory abnormality
notation: HP:0002793

HP_0002794
IAO_0000231: IAO_0000227
IAO_0100001: Seizures
type: Class
deprecated: true
notation: HP:0002794

Functional respiratory abnormality
tree view: Abnormality of the respiratory system
has db xref: Fyler:4200
has db xref: UMLS:C4025677
has exact synonym: Abnormal respiration
has exact synonym: Functional respiratory abnormality
has OBO namespace: human_phenotype
has related synonym: Respiratory problem
id: HP:0002795
type: Class
comment: This category describes not-primarily structural lesions.
subclass of: Abnormality of the respiratory system
notation: HP:0002795

HP_0002796
IAO_0000231: IAO_0000227
IAO_0100001: HP_0011001
type: Class
deprecated: true
notation: HP:0002796

Osteolysis
tree view: Abnormal bone structure
IAO_0000115: Osteolysis refers to the destruction of bone through bone resorption with removal or loss of calcium.
has alternative id: HP:0010737
has db xref: MSH:D010014
has db xref: SNOMEDCT_US:203522001
has db xref: SNOMEDCT_US:30425001
has db xref: UMLS:C0221204
has exact synonym: Breakdown of bone
has exact synonym: Increased bone resorption
has exact synonym: Osteolytic defects of bones
has OBO namespace: human_phenotype
id: HP:0002797
type: Class
comment: Osteolysis may be a feature of neoplastic, infectious, metabolis, vascular, and joint disorders and is also a component of many hereditary diseases. Osteolysis may be highly localized or more diffuse. This term is meant to group the more specific osteolysis terms.
subclass of: Abnormal bone structure
notation: HP:0002797

HP_0002798
IAO_0000231: IAO_0000227
IAO_0100001: Increased susceptibility to fractures
type: Class
deprecated: true
notation: HP:0002798

HP_0002799
IAO_0000231: IAO_0000227
IAO_0100001: Osteopenia
type: Class
deprecated: true
notation: HP:0002799

HP_0002800
IAO_0000231: IAO_0000227
IAO_0100001: Osteopenia
type: Class
deprecated: true
notation: HP:0002800

HP_0002801
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009943
type: Class
deprecated: true
notation: HP:0002801

HP_0002802
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009777
type: Class
deprecated: true
notation: HP:0002802

Congenital contracture
tree view: Flexion contracture
IAO_0000115: One or more flexion contractures (a bent joint that cannot be straightened actively or passively) that are present at birth.
has db xref: UMLS:C0332878
has exact synonym: Congenital joint contractures
has exact synonym: congenital contractures
has OBO namespace: human_phenotype
id: HP:0002803
type: Class
subclass of: Flexion contracture
notation: HP:0002803

Arthrogryposis multiplex congenita
tree view: Congenital contracture
IAO_0000115: Multiple congenital contractures in different body areas.
has alternative id: HP:0001389
has alternative id: HP:0001390
has alternative id: HP:0002759
has alternative id: HP:0005188
has alternative id: HP:0005663
has alternative id: HP:0005809
has alternative id: HP:0005859
has db xref: MSH:D001176
has db xref: SNOMEDCT_US:111246005
has db xref: SNOMEDCT_US:77016009
has db xref: UMLS:C0003886
has exact synonym: Arthrogryposis
has exact synonym: Arthrogryposis multiplex
has exact synonym: Arthrogryposis, congenital
has exact synonym: Multiple congenital contractures
has OBO namespace: human_phenotype
id: HP:0002804
type: Class
comment: Arthrogryposis multiplex congenita (AMC) consists of several conditions of different etiology and mixed clinical features, including multiple congenital contractures in multiple body areas. Here, we use the term to refer solely to the multiple congenital contractures. It is related to fetal akinesia owing to fetal neurogenic, muscle, or connective tissue disorders or occasionally to maternal conditions. AMC can be associated with polyhydramnios, pulmonary hypoplasia, micrognathia, ocular hypertelorism, and short umbilical cord. AMC is a feature of a heterogeneous group of disorders, some of which have the phrase 'arthrogryposis multiplex congenita' as a part of their name (for instance, Arthrogryposis multiplex congenita, distal type 1 or AMCD1). This term refers to the finding of multiple joint contractures found throughout the body at birth rather than to the disease entities of which this is a clinical feature.
subclass of: Congenital contracture
notation: HP:0002804

Accelerated bone age after puberty
tree view: HP_0005616
has db xref: UMLS:C1860825
has exact synonym: Accelerated bone age after puberty
has OBO namespace: human_phenotype
id: HP:0002805
type: Class
subclass of: HP_0005616
notation: HP:0002805

HP_0002806
IAO_0000231: IAO_0000227
IAO_0100001: Delayed skeletal maturation
type: Class
deprecated: true
notation: HP:0002806

HP_0002807
IAO_0000231: IAO_0000227
IAO_0100001: Vertebral fusion
type: Class
deprecated: true
notation: HP:0002807

Kyphosis
tree view: HP_0010674
IAO_0000115: Exaggerated anterior convexity of the thoracic vertebral column.
has alternative id: HP:0002769
has alternative id: HP:0003314
has db xref: MSH:D007738
has db xref: SNOMEDCT_US:414564002
has db xref: UMLS:C0022821
has db xref: UMLS:C1845112
has exact synonym: Gibbus deformity
has exact synonym: Hunched back
has exact synonym: Hyperkyphosis
has exact synonym: Round back
has OBO namespace: human_phenotype
id: HP:0002808
in subset: hposlim core
type: Class
subclass of: HP_0010674
notation: HP:0002808

HP_0002809
IAO_0000231: IAO_0000227
IAO_0100001: Recurrent fractures
type: Class
deprecated: true
notation: HP:0002809

Dumbbell-shaped metaphyses
tree view: Abnormality of the metaphysis
has alternative id: HP:0005079
has db xref: UMLS:C3277123
has exact synonym: Dumbbell shaped metaphyses
has exact synonym: Dumbbell shaped metaphysis
has exact synonym: Dumbbell shaped wide portion of long bone
has OBO namespace: human_phenotype
id: HP:0002810
type: Class
subclass of: Abnormality of the metaphysis
notation: HP:0002810

HP_0002811
IAO_0000231: IAO_0000227
IAO_0100001: HP_0005855
type: Class
deprecated: true
notation: HP:0002811

Coxa vara
tree view: Abnormality of the femoral neck
IAO_0000115: Coxa vara includes all forms of decrease of the femoral neck shaft angle (the angle between the neck and the shaft of the femur) to less than 120 degrees.
has db xref: MSH:D060905
has db xref: SNOMEDCT_US:74820003
has db xref: UMLS:C0239138
has OBO namespace: human_phenotype
id: HP:0002812
type: Class
comment: The Latin word 'coxa' refers to the hip, and varus is a term for the inward angulation of the distal segment of a bone or joint. The normal range of the angle between the ball and the shaft of the femur is 120 to 135 degrees. Coxa vara can be congenital, developmental, or acquired.
subclass of: Abnormality of the femoral neck
notation: HP:0002812

Abnormality of limb bone morphology
tree view: HP_0011844
tree view: HP_0040068
IAO_0000115: Any abnormality of bones of the arms or legs.
has db xref: UMLS:C4082761
has exact synonym: Abnormal shape of limb bone
has exact synonym: Arm and/or leg bone differences
has exact synonym: Limb abnormality
has OBO namespace: human_phenotype
id: HP:0002813
type: Class
subclass of: HP_0011844
subclass of: HP_0040068
notation: HP:0002813

Abnormality of the lower limb
tree view: HP_0040064
IAO_0000115: An abnormality of the leg.
has db xref: SNOMEDCT_US:449715001
has db xref: UMLS:C1096086
has exact synonym: Abnormality of the leg
has exact synonym: Abnormality of the lower limb
has exact synonym: Lower limb deformities
has OBO namespace: human_phenotype
id: HP:0002814
in subset: hposlim core
type: Class
subclass of: HP_0040064
notation: HP:0002814

Abnormality of the knee
tree view: HP_0100491
IAO_0000115: An abnormality of the knee joint or surrounding structures.
has db xref: UMLS:C4025676
has exact synonym: Abnormality of the knee
has OBO namespace: human_phenotype
id: HP:0002815
in subset: hposlim core
type: Class
subclass of: HP_0100491
notation: HP:0002815

Genu recurvatum
tree view: HP_0010500
IAO_0000115: An abnormally increased extension of the knee joint, so that the knee can bend backwards.
has db xref: MEDDRA:10018194
has db xref: UMLS:C0546964
has exact synonym: Back knee
has exact synonym: Genu recurvata
has exact synonym: Knee hyperextension
has OBO namespace: human_phenotype
id: HP:0002816
in subset: hposlim core
type: Class
comment: Individuals with genu recurvatum may experience knee pain, display an extension gait pattern, and have poor proprioceptive control of terminal knee extension.
subclass of: HP_0010500
notation: HP:0002816

Abnormality of the upper limb
tree view: HP_0040064
IAO_0000115: An abnormality of the arm.
has alternative id: HP:0003838
has db xref: UMLS:C4020900
has exact synonym: Abnormality of the arm
has exact synonym: Abnormality of the upper limb
has OBO namespace: human_phenotype
id: HP:0002817
type: Class
subclass of: HP_0040064
notation: HP:0002817

Abnormality of the radius
tree view: HP_0040072
IAO_0000115: An abnormality of the radius.
has db xref: UMLS:C4025675
has OBO namespace: human_phenotype
id: HP:0002818
in subset: hposlim core
type: Class
subclass of: HP_0040072
notation: HP:0002818

HP_0002819
IAO_0000231: IAO_0000227
IAO_0100001: Absent radius
type: Class
deprecated: true
notation: HP:0002819

HP_0002820
IAO_0000231: IAO_0000227
IAO_0100001: Large hands
type: Class
deprecated: true
notation: HP:0002820

Neuropathic arthropathy
tree view: Arthropathy
has db xref: MSH:D001177
has db xref: SNOMEDCT_US:359554008
has db xref: SNOMEDCT_US:67536000
has db xref: UMLS:C0003892
has exact synonym: Charcot arthropathy
has exact synonym: Charcot joint
has OBO namespace: human_phenotype
id: HP:0002821
type: Class
subclass of: Arthropathy
notation: HP:0002821

Hyperplasia of the femoral trochanters
tree view: Abnormality of the femoral neck or head region
has db xref: UMLS:C3277120
has exact synonym: Hyperplastic femoral trochanters
has OBO namespace: human_phenotype
id: HP:0002822
type: Class
subclass of: Abnormality of the femoral neck or head region
notation: HP:0002822

Abnormality of femur morphology
tree view: HP_0040066
IAO_0000115: Any anomaly of the structure of the femur.
has alternative id: HP:0001439
has db xref: UMLS:C4021750
has exact synonym: Abnormality of the femora
has exact synonym: Abnormality of the thighbone
has OBO namespace: human_phenotype
id: HP:0002823
type: Class
comment: The femur (plural: femora) is the thigh bone.
subclass of: HP_0040066
notation: HP:0002823

HP_0002824
IAO_0000231: IAO_0000227
IAO_0100001: Osteoarthritis
type: Class
deprecated: true
notation: HP:0002824

Caudal appendage
tree view: HP_0008519
IAO_0000115: The presence of a tail-like skin appendage located adjacent to the sacrum.
has db xref: UMLS:C3277117
has exact synonym: Coccygeal tail
has exact synonym: Human tail
has OBO namespace: human_phenotype
id: HP:0002825
in subset: hposlim core
type: Class
subclass of: HP_0008519
notation: HP:0002825

Halberd-shaped pelvis
tree view: HP_0040163
IAO_0000115: An anomalous radiographic appearance of the developing pelvis, in which the greater ischiadic noth (incisura ischiadica major) is shallow and the pelvis takes on the appearance said to resemble a halberd (a weapon especially of the 15th and 16th centuries consisting typically of a battle-ax and pike mounted on a handle).
has db xref: UMLS:C3277119
has exact synonym: Halberd-shaped pelvis bone
has OBO namespace: human_phenotype
id: HP:0002826
type: Class
subclass of: HP_0040163
notation: HP:0002826

Hip dislocation
tree view: Abnormality of the hip joint
tree view: HP_0030311
IAO_0000115: Displacement of the femur from its normal location in the hip joint.
has alternative id: HP:0001375
has db xref: MSH:D006617
has db xref: SNOMEDCT_US:157265008
has db xref: UMLS:C0019554
has exact synonym: Dislocated hips
has exact synonym: Dislocation of hip
has exact synonym: Hip dislocation
has OBO namespace: human_phenotype
id: HP:0002827
type: Class
subclass of: Abnormality of the hip joint
subclass of: HP_0030311
notation: HP:0002827

Multiple joint contractures
tree view: Flexion contracture
has db xref: SNOMEDCT_US:19393004
has db xref: SNOMEDCT_US:202264009
has db xref: UMLS:C0158118
has OBO namespace: human_phenotype
id: HP:0002828
type: Class
subclass of: Flexion contracture
notation: HP:0002828

Arthralgia
tree view: HP_0012531
IAO_0000115: Joint pain.
has db xref: MSH:D018771
has db xref: SNOMEDCT_US:57676002
has db xref: UMLS:C0003862
has exact synonym: Arthralgias
has exact synonym: Joint pain
has OBO namespace: human_phenotype
has related synonym: Arthritic pain
has related synonym: Joint pains
id: HP:0002829
type: Class
subclass of: HP_0012531
notation: HP:0002829

HP_0002830
IAO_0000231: IAO_0000227
IAO_0100001: HP_0008519
type: Class
deprecated: true
notation: HP:0002830

Long coccyx
tree view: HP_0008519
has db xref: UMLS:C3277116
has exact synonym: Long tailbone
has OBO namespace: human_phenotype
id: HP:0002831
type: Class
subclass of: HP_0008519
notation: HP:0002831

Calcific stippling
tree view: HP_0010766
IAO_0000115: An abnormal punctate (speckled, dot-like) pattern of calcifications in soft tissues within or surrounding bones (as observed on radiographs).
has alternative id: HP:0005738
has db xref: UMLS:C1849993
has exact synonym: Discrete calcific stippling
has OBO namespace: human_phenotype
id: HP:0002832
type: Class
subclass of: HP_0010766
notation: HP:0002832

Cystic angiomatosis of bone
tree view: HP_0012062
IAO_0000115: Disseminated multifocal hemangiomatous or lymphangiomatous lesions of the skeleton. The lesions are lytic, well-defined, round or oval lesions within the medullary cavity, and they have an intact cortex, and manifest variable peripheral sclerosis and may exhibit endosteal scalloping.
has db xref: UMLS:C4021749
has exact synonym: Lytic cystic lesions in appendicular bones
has OBO namespace: human_phenotype
id: HP:0002833
type: Class
comment: The term Cystic angiomatosis is used to describe a disease entity that includes cystic angiomatosis of bone and of visceral organs.
subclass of: HP_0012062
notation: HP:0002833

Flared femoral metaphysis
tree view: HP_0006489
tree view: HP_0030307
has db xref: UMLS:C4025674
has exact synonym: Flared metaphysis of thigh bone
has OBO namespace: human_phenotype
id: HP:0002834
type: Class
subclass of: HP_0006489
subclass of: HP_0030307
notation: HP:0002834

Aspiration
tree view: Functional respiratory abnormality
IAO_0000115: Inspiration of a foreign object into the airway.
has db xref: SNOMEDCT_US:413585005
has db xref: SNOMEDCT_US:68052005
has db xref: UMLS:C0700198
has db xref: UMLS:C2712334
has OBO namespace: human_phenotype
has related synonym: Pulmonary aspiration
id: HP:0002835
type: Class
subclass of: Functional respiratory abnormality
notation: HP:0002835

Bladder exstrophy
tree view: HP_0025487
tree view: HP_0100548
IAO_0000115: Eversion of the posterior bladder wall through the congenitally absent lower anterior abdominal wall and anterior bladder wall.
has db xref: MSH:D001746
has db xref: SNOMEDCT_US:61758007
has db xref: UMLS:C0005689
has exact synonym: Ectopia vesicae
has OBO namespace: human_phenotype
id: HP:0002836
type: Class
comment: Exstrophy of the bladder can be associated with epispadias and bifid penis or in females with bifid clitoris, a bifid uterus, and a septated vagina, each of which should be coded separately.
subclass of: HP_0025487
subclass of: HP_0100548
notation: HP:0002836

Recurrent bronchitis
tree view: Recurrent upper respiratory tract infections
tree view: HP_0012387
tree view: HP_0025426
IAO_0000115: An increased susceptibility to bronchitis as manifested by a history of recurrent bronchitis.
has alternative id: HP:0002785
has db xref: UMLS:C0741796
has exact synonym: Bronchitis, recurrent
has OBO namespace: human_phenotype
id: HP:0002837
type: Class
subclass of: Recurrent upper respiratory tract infections
subclass of: HP_0012387
subclass of: HP_0025426
notation: HP:0002837

HP_0002838
IAO_0000231: IAO_0000227
IAO_0100001: Megacystis
type: Class
deprecated: true
notation: HP:0002838

Urinary bladder sphincter dysfunction
tree view: Functional abnormality of the bladder
IAO_0000115: Abnormal function of a sphincter of the urinary bladder.
has alternative id: HP:0000018
has db xref: UMLS:C1843663
has exact synonym: Sphincter disturbance
has exact synonym: Sphincter disturbances
has OBO namespace: human_phenotype
id: HP:0002839
type: Class
subclass of: Functional abnormality of the bladder
notation: HP:0002839

Lymphadenitis
tree view: Abnormality of the lymph nodes
tree view: HP_0012649
IAO_0000115: Inflammation of a lymph node.
has db xref: MSH:D008199
has db xref: SNOMEDCT_US:19471005
has db xref: UMLS:C0024205
has exact synonym: Inflammation of the lymph nodes
has OBO namespace: human_phenotype
id: HP:0002840
type: Class
subclass of: Abnormality of the lymph nodes
subclass of: HP_0012649
notation: HP:0002840

Recurrent fungal infections
tree view: Recurrent infections
tree view: HP_0020100
IAO_0000115: Increased susceptibility to fungal infections, as manifested by multiple episodes of fungal infection.
has alternative id: HP:0005350
has alternative id: HP:0005380
has alternative id: HP:0005388
has db xref: UMLS:C1844384
has exact synonym: Recurrent fungal infections
has OBO namespace: human_phenotype
id: HP:0002841
type: Class
subclass of: Recurrent infections
subclass of: HP_0020100
notation: HP:0002841

Recurrent Burkholderia cepacia infections
tree view: HP_0005420
IAO_0000115: Increased susceptibility to infections with Burkholderia cepacia, as manifested by recurrent episodes of infection with this agent.
has db xref: UMLS:C4025673
has OBO namespace: human_phenotype
id: HP:0002842
type: Class
subclass of: HP_0005420
notation: HP:0002842

Abnormal T cell morphology
tree view: Abnormal lymphocyte morphology
IAO_0000115: An abnormality of T cells.
has alternative id: HP:0002734
has alternative id: HP:0030332
has db xref: UMLS:C1855752
has exact synonym: Abnormal T cells
has exact synonym: Abnormality of T cells
has exact synonym: Cellular immune defect
has exact synonym: Defective cellular immunity
has OBO namespace: human_phenotype
id: HP:0002843
type: Class
comment: T-cells are lymphocytes whose principle function in the adaptive immune system is to mediate cell-mediated immunity.
subclass of: Abnormal lymphocyte morphology
notation: HP:0002843

HP_0002844
IAO_0000231: IAO_0000227
IAO_0100001: HP_0005435
type: Class
deprecated: true
notation: HP:0002844

obsolete Increased proportion of peripheral CD3+ T cells
IAO_0000231: IAO_0000227
IAO_0100001: Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells
IAO_0100001: HP:0002851
has OBO namespace: human_phenotype
id: HP:0002845
type: Class
deprecated: true
notation: HP:0002845

Abnormal B cell morphology
tree view: Abnormal lymphocyte morphology
IAO_0000115: A structural abnormality of B cells.
has db xref: UMLS:C4021748
has exact synonym: Abnormal B cells
has exact synonym: Abnormality of B cells
has OBO namespace: human_phenotype
id: HP:0002846
type: Class
comment: B cells are bursal or bone marrow-derived lymphocytes whose principle function in the adaptive immune system is to make antibodies against antigens. A simple definition of B lymphocytes is a population of cells that express clonally diverse cell surface immunoglobulin (Ig) receptors recognizing specific antigenic epitopes. Over 10 B cell-specific cell surface molecules have been identified by monoclonal antibodies, including CD19, which is considered a pan-B cell and possibly follicular dendritic cell marker, and CD20, which is considered to be a marker for mature B cells.
subclass of: Abnormal lymphocyte morphology
notation: HP:0002846

Impaired memory B cell generation
tree view: HP_0005372
IAO_0000115: Impaired production of memory cells, the B cells that persist for years or an entire lifetime and which confer rapid and enhanced response to secondary challenge.
has db xref: UMLS:C4025672
has OBO namespace: human_phenotype
id: HP:0002847
type: Class
subclass of: HP_0005372
notation: HP:0002847

Specific anti-polysaccharide antibody deficiency
tree view: HP_0012475
IAO_0000115: The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against bacterial polysaccharides.
has db xref: UMLS:C4021747
has exact synonym: Depressed antibody response to polysaccharide antigens
has OBO namespace: human_phenotype
id: HP:0002848
type: Class
comment: Specific anti-polysaccharide antibody deficiency is associated with an increased risk of infection with Streptococcus pneumoniae, Haemophilus influenzae type b, and Staphylococcus aureus.
subclass of: HP_0012475
notation: HP:0002848

Absence of lymph node germinal center
tree view: Abnormality of the lymph nodes
IAO_0000115: Absence of germinal centers in lymph nodes. Germinal centers are the parts of lymph nodes in which B lymphocytes proliferate, differentiate, mutate through somatic hypermutation and class switch during antibody responses.
has db xref: UMLS:C1847383
has exact synonym: Lymph nodes lack germinal center
has exact synonym: Lymphoid germinal center defect
has OBO namespace: human_phenotype
id: HP:0002849
type: Class
subclass of: Abnormality of the lymph nodes
notation: HP:0002849

Decreased circulating total IgM
tree view: Decreased antibody level in blood
tree view: HP_0410243
IAO_0000115: An abnormally decreased level of immunoglobulin M (IgM) in blood.
has alternative id: HP:0003147
has alternative id: HP:0005385
has db xref: UMLS:C0239989
has exact synonym: Decreased IgM
has exact synonym: Decreased IgM level
has exact synonym: IgM deficiency
has exact synonym: Reduced IgM levels
has OBO namespace: human_phenotype
id: HP:0002850
type: Class
subclass of: Decreased antibody level in blood
subclass of: HP_0410243
notation: HP:0002850

Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells
tree view: HP_0031399
IAO_0000115: An abnormally increased proportion of CD4-negative, CD8-negative (double negative or DN) alpha-beta regulatory T cells (Tregs) as compared to total number of T cells.
has alternative id: HP:0002845
has db xref: UMLS:C1858973
has exact synonym: Increased number of CD4-/CD8- T cells expressing alpha/beta T-cell receptors
has OBO namespace: human_phenotype
id: HP:0002851
type: Class
subclass of: HP_0031399
notation: HP:0002851

HP_0002852
IAO_0000231: IAO_0000227
IAO_0100001: HP_0010702
type: Class
deprecated: true
notation: HP:0002852

Increased proportion of HLA DR+ T cells
tree view: HP_0025540
IAO_0000115: An elevated proportion of T cells that express human leukocyte antigen (HLA)-DR. HLA-DR is an MHC class II cell surface receptor that presents antigens (peptides of at least 9 amino acids), thereby constituting a ligand for the T-cell receptor. HLA-DR can be upregulated in response to immune stimulation.
has db xref: UMLS:C1858974
has OBO namespace: human_phenotype
id: HP:0002853
type: Class
subclass of: HP_0025540
notation: HP:0002853

HP_0002854
IAO_0000231: IAO_0000227
IAO_0100001: HP_0005479
type: Class
deprecated: true
notation: HP:0002854

HP_0002855
IAO_0000231: IAO_0000227
IAO_0100001: HP_0011733
type: Class
deprecated: true
notation: HP:0002855

HP_0002856
IAO_0000231: IAO_0000227
IAO_0100001: HP_0005365
type: Class
deprecated: true
notation: HP:0002856

Genu valgum
tree view: Abnormality of the knee
tree view: Bowing of the legs
IAO_0000115: The legs angle inward, such that the knees are close together and the ankles far apart.
has alternative id: HP:0004999
has db xref: MEDDRA:10023480
has db xref: MSH:D056304
has db xref: SNOMEDCT_US:299330008
has db xref: UMLS:C0576093
has exact synonym: Genu valga
has exact synonym: Genu valgus
has exact synonym: Genua valga
has exact synonym: Knee joint valgus deformity
has exact synonym: Knock knees
has OBO namespace: human_phenotype
id: HP:0002857
in subset: hposlim core
type: Class
subclass of: Abnormality of the knee
subclass of: Bowing of the legs
notation: HP:0002857

Meningioma
tree view: HP_0100835
IAO_0000115: The presence of a meningioma, i.e., a benign tumor originating from the dura mater or arachnoid mater.
has alternative id: HP:0006754
has broad synonym: Noncancerous growth of membranes covering brain
has db xref: MSH:D008579
has db xref: NCIT:C3230
has db xref: UMLS:C0025286
has OBO namespace: human_phenotype
id: HP:0002858
type: Class
subclass of: HP_0100835
notation: HP:0002858

Rhabdomyosarcoma
tree view: HP_0009728
tree view: HP_0030448
has db xref: MSH:D012208
has db xref: NCIT:C3359
has db xref: SNOMEDCT_US:302847003
has db xref: SNOMEDCT_US:30924005
has db xref: UMLS:C0035412
has OBO namespace: human_phenotype
id: HP:0002859
type: Class
subclass of: HP_0009728
subclass of: HP_0030448
notation: HP:0002859

Squamous cell carcinoma
tree view: HP_0008069
IAO_0000115: The presence of squamous cell carcinoma of the skin.
has broad synonym: Squamous cell cancer
has db xref: MSH:D002294
has db xref: MSH:D018307
has db xref: NCIT:C2929
has db xref: SNOMEDCT_US:28899001
has db xref: SNOMEDCT_US:402815007
has db xref: UMLS:C0007137
has db xref: UMLS:C0751688
has OBO namespace: human_phenotype
id: HP:0002860
type: Class
subclass of: HP_0008069
notation: HP:0002860

Melanoma
tree view: HP_0011792
IAO_0000115: The presence of a melanoma, a malignant cancer originating from pigment producing melanocytes. Melanoma can originate from the skin or the pigmented layers of the eye (the uvea).
has alternative id: HP:0002887
has alternative id: HP:0006777
has alternative id: HP:0007474
has broad synonym: Cancer of skin pigment cells
has broad synonym: Skin cancer (melanoma)
has db xref: MSH:D008545
has db xref: NCIT:C3224
has db xref: SNOMEDCT_US:2092003
has db xref: SNOMEDCT_US:372244006
has db xref: UMLS:C0025202
has exact synonym: Malignant melanoma
has OBO namespace: human_phenotype
id: HP:0002861
type: Class
comment: A malignant skin tumor of originating from melanocytes, pigment cells normally present in the epidermis and sometimes in the dermis.
subclass of: HP_0011792
notation: HP:0002861

Bladder carcinoma
tree view: HP_0009725
IAO_0000115: The presence of a carcinoma of the urinary bladder.
has db xref: NCIT:C2916
has db xref: SNOMEDCT_US:255108000
has db xref: UMLS:C0699885
has OBO namespace: human_phenotype
id: HP:0002862
type: Class
subclass of: HP_0009725
notation: HP:0002862

Myelodysplasia
tree view: Hematological neoplasm
IAO_0000115: Clonal hematopoietic stem cell disorders characterized by dysplasia (ineffective production) in one or more hematopoietic cell lineages, leading to anemia and cytopenia.
has alternative id: HP:0004832
has alternative id: HP:0006730
has db xref: MSH:D009190
has db xref: SNOMEDCT_US:109995007
has db xref: SNOMEDCT_US:128623006
has db xref: SNOMEDCT_US:188736006
has db xref: UMLS:C1851971
has db xref: UMLS:C3463824
has exact synonym: Myelodysplastic syndrome
has OBO namespace: human_phenotype
has related synonym: Hypoplastic myelodysplasia
id: HP:0002863
type: Class
subclass of: Hematological neoplasm
notation: HP:0002863

Paraganglioma of head and neck
tree view: Paraganglioma
has db xref: UMLS:C1333944
has exact synonym: Paragangliomas, head and neck
has OBO namespace: human_phenotype
id: HP:0002864
type: Class
subclass of: Paraganglioma
notation: HP:0002864

Medullary thyroid carcinoma
tree view: Thyroid carcinoma
IAO_0000115: The presence of a medullary carcinoma of the thyroid gland.
has broad synonym: Medullary thyroid cancer
has db xref: MSH:C536914
has db xref: NCIT:C3879
has db xref: SNOMEDCT_US:128916007
has db xref: SNOMEDCT_US:255032005
has db xref: UMLS:C0238462
has OBO namespace: human_phenotype
id: HP:0002865
type: Class
subclass of: Thyroid carcinoma
notation: HP:0002865

Hypoplastic iliac wing
tree view: Hypoplastic ilia
tree view: HP_0011867
IAO_0000115: Underdevelopment of the ilium ala.
has alternative id: HP:0003169
has alternative id: HP:0003181
has alternative id: HP:0008837
has db xref: UMLS:C1865027
has exact synonym: Hypoplastic iliac alae
has exact synonym: Hypoplastic iliac wings
has exact synonym: Small iliac wings
has OBO namespace: human_phenotype
id: HP:0002866
in subset: hposlim core
type: Class
subclass of: Hypoplastic ilia
subclass of: HP_0011867
notation: HP:0002866

Abnormality of the ilium
tree view: Abnormality of the hip bone
IAO_0000115: An abnormality of the ilium, the largest and uppermost bone of the pelvis.
has db xref: UMLS:C4021746
has exact synonym: Iliac abnormalities
has OBO namespace: human_phenotype
id: HP:0002867
in subset: hposlim core
type: Class
subclass of: Abnormality of the hip bone
notation: HP:0002867

Narrow iliac wings
tree view: HP_0011867
IAO_0000115: Decreased width of the wing (or ala) of the ilium (which is the large expanded portion which bounds the greater pelvis laterally).
has db xref: UMLS:C1836688
has OBO namespace: human_phenotype
id: HP:0002868
in subset: hposlim core
type: Class
subclass of: HP_0011867
notation: HP:0002868

Flared iliac wings
tree view: HP_0011867
IAO_0000115: Widening of the ilium ala, that is of the wing of the ilium, combined with external rotation, leading to a flared appearance of the iliac wing.
has db xref: UMLS:C1865841
has exact synonym: Flared iliac wing
has OBO namespace: human_phenotype
id: HP:0002869
in subset: hposlim core
type: Class
subclass of: HP_0011867
notation: HP:0002869

Obstructive sleep apnea
tree view: HP_0010535
IAO_0000115: A condition characterized by obstruction of the airway and by pauses in breathing during sleep occurring many times during the night. Obstructive sleep apnea is related to a relaxation of muscle tone (which normally occurs during sleep) leading to partial collapse of the soft tissues in the airway with resultant obstruction of the air flow.
has db xref: MSH:D020181
has db xref: SNOMEDCT_US:78275009
has db xref: UMLS:C0520679
has OBO namespace: human_phenotype
has related synonym: Obstructive sleep apnoea
id: HP:0002870
type: Class
subclass of: HP_0010535
notation: HP:0002870

Central apnea
tree view: Apnea
IAO_0000115: Apnea resulting from depression of the respiratory centers in the medulla oblongata. There is a lack of respiratory effort rather than obstruction of airflow.
has db xref: MSH:D020182
has db xref: UMLS:C0520680
has exact synonym: Central apnoea
has OBO namespace: human_phenotype
id: HP:0002871
type: Class
subclass of: Apnea
notation: HP:0002871

Apneic episodes precipitated by illness, fatigue, stress
tree view: Apnea
IAO_0000115: Recurrent episodes of apnea that are precipitated by factors such as illness, fatigue, or stress.
has db xref: UMLS:C3806462
has exact synonym: Episodic apnea induced by febrile illness or stress
has OBO namespace: human_phenotype
id: HP:0002872
type: Class
subclass of: Apnea
notation: HP:0002872

HP_0002873
IAO_0000231: IAO_0000227
IAO_0100001: Recurrent respiratory infections
type: Class
deprecated: true
notation: HP:0002873

HP_0002874
IAO_0000231: IAO_0000227
IAO_0100001: Tachypnea
type: Class
deprecated: true
notation: HP:0002874

Exertional dyspnea
tree view: Dyspnea
has db xref: SNOMEDCT_US:60845006
has db xref: UMLS:C0231807
has OBO namespace: human_phenotype
id: HP:0002875
type: Class
subclass of: Dyspnea
notation: HP:0002875

Episodic tachypnea
tree view: Tachypnea
IAO_0000115: Episodes of very rapid breathing.
has alternative id: HP:0002881
has db xref: UMLS:C3806218
has exact synonym: Hyperpnea, episodic
has OBO namespace: human_phenotype
id: HP:0002876
type: Class
subclass of: Tachypnea
notation: HP:0002876

Nocturnal hypoventilation
tree view: Hypoventilation
has db xref: UMLS:C1843643
has exact synonym: Nocturnal hypopnea
has exact synonym: Nocturnal slow breathing
has exact synonym: Nocturnal under breathing
has OBO namespace: human_phenotype
id: HP:0002877
type: Class
subclass of: Hypoventilation
notation: HP:0002877

Respiratory failure
tree view: Respiratory insufficiency
IAO_0000115: A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits.
has alternative id: HP:0004877
has db xref: MSH:D012131
has db xref: SNOMEDCT_US:409622000
has db xref: UMLS:C1145670
has exact synonym: Respiratory failure
has OBO namespace: human_phenotype
id: HP:0002878
type: Class
comment: Respiratory failure is classified as type 1 with hypoxemia (arterial partial pressure of oxygen less than 60 mmHg) without hypercapnea, and type 2 with hypoxemia in the present of hypercapnea (partial pressure of carbon dioxide over 50 mmHg).
subclass of: Respiratory insufficiency
notation: HP:0002878

Anisospondyly
tree view: Abnormal form of the vertebral bodies
IAO_0000115: Abnormally increased variability of the size of the vertebral bodies.
has db xref: UMLS:C1857101
has OBO namespace: human_phenotype
id: HP:0002879
type: Class
subclass of: Abnormal form of the vertebral bodies
notation: HP:0002879

obsolete Respiratory difficulties
IAO_0000231: IAO_0000227
IAO_0100001: Respiratory distress
IAO_0100001: HP:0002098
has OBO namespace: human_phenotype
id: HP:0002880
type: Class
deprecated: true
notation: HP:0002880

HP_0002881
IAO_0000231: IAO_0000227
IAO_0100001: Episodic tachypnea
type: Class
deprecated: true
notation: HP:0002881

Sudden episodic apnea
tree view: Apnea
IAO_0000115: Recurrent bouts of sudden, severe apnea that may be life-threatening.
has db xref: UMLS:C4025671
has OBO namespace: human_phenotype
id: HP:0002882
type: Class
subclass of: Apnea
notation: HP:0002882

Hyperventilation
tree view: Abnormal pattern of respiration
IAO_0000115: Hyperventilation refers to an increased pulmonary ventilation rate that is faster than necessary for the exchange of gases. Hyperventilation can result from increased frequency of breathing, an increased tidal volume, or both, and leads to an excess intake of oxygen and the blowing off of carbon dioxide.
has db xref: MSH:D006985
has db xref: SNOMEDCT_US:68978004
has db xref: UMLS:C0020578
has exact synonym: Rapid breathing
has OBO namespace: human_phenotype
id: HP:0002883
type: Class
subclass of: Abnormal pattern of respiration
notation: HP:0002883

Hepatoblastoma
tree view: Neoplasm of the liver
tree view: Embryonal neoplasm
IAO_0000115: A kind of neoplasm of the liver that originates from immature liver precursor cells and macroscopically is composed of tissue resembling fetal or mature liver cells or bile ducts.
has db xref: MSH:D018197
has db xref: NCIT:C3728
has db xref: SNOMEDCT_US:109843000
has db xref: SNOMEDCT_US:45024009
has db xref: UMLS:C0206624
has OBO namespace: human_phenotype
id: HP:0002884
type: Class
comment: Hepatoblastoma occurs nearly exclusively in infants and children.
subclass of: Neoplasm of the liver
subclass of: Embryonal neoplasm
notation: HP:0002884

Medulloblastoma
tree view: HP_0100836
IAO_0000115: A rapidly growing embryonic tumor arising in the posterior part of the cerebellar vermis and neuroepithelial roof of the fourth ventricle in children. More rarely, medulloblastoma arises in the cerebellum in adults.
has db xref: MSH:D008527
has db xref: NCIT:C3222
has db xref: SNOMEDCT_US:443333004
has db xref: SNOMEDCT_US:83217000
has db xref: UMLS:C0025149
has OBO namespace: human_phenotype
id: HP:0002885
type: Class
comment: Medulloblastoma is a highly malignant primary brain tumor that originates in the cerebellum or posterior fossa and belonging to the family of cranial primitive neuroectodermal tumors.
subclass of: HP_0100836
notation: HP:0002885

Vagal paraganglioma
tree view: Paraganglioma of head and neck
IAO_0000115: A tumor that develops in the retrostyloid compartment of the parapharyngeal space, arising from an island of paraganglion tissue derived from the neural crest that is located on the vagus nerve.
has db xref: SNOMEDCT_US:253030004
has db xref: UMLS:C0474819
has exact synonym: Glomus vagale tumor
has exact synonym: Vagal nerve tumors
has OBO namespace: human_phenotype
has related synonym: Glomus vagale paraganglioma
id: HP:0002886
type: Class
subclass of: Paraganglioma of head and neck
notation: HP:0002886

HP_0002887
IAO_0000231: IAO_0000227
IAO_0100001: Melanoma
type: Class
deprecated: true
notation: HP:0002887

Ependymoma
tree view: HP_0009733
IAO_0000115: The presence of an ependymoma of the central nervous system.
has db xref: MSH:D004806
has db xref: NCIT:C3017
has db xref: SNOMEDCT_US:443643007
has db xref: SNOMEDCT_US:57706008
has db xref: UMLS:C0014474
has OBO namespace: human_phenotype
id: HP:0002888
type: Class
comment: According to MPATH, ependymomas are neoplasms derived from the ependymal cells lining the ventricles and aqueduct of the brain and the central canal of the spinal cord and may be malignant or benign.
subclass of: HP_0009733
notation: HP:0002888

HP_0002889
IAO_0000231: IAO_0000227
IAO_0100001: HP_0006744
type: Class
deprecated: true
notation: HP:0002889

Thyroid carcinoma
tree view: HP_0100031
IAO_0000115: The presence of a carcinoma of the thyroid gland.
has db xref: MSH:D013964
has db xref: NCIT:C2916
has db xref: UMLS:C0549473
has OBO namespace: human_phenotype
id: HP:0002890
type: Class
subclass of: HP_0100031
notation: HP:0002890

Uterine leiomyosarcoma
tree view: HP_0010784
tree view: HP_0100243
IAO_0000115: The presence of a leiomyosarcoma of the uterus.
has db xref: NCIT:C3158
has db xref: SNOMEDCT_US:447389009
has db xref: UMLS:C0280631
has OBO namespace: human_phenotype
id: HP:0002891
type: Class
comment: Leiomyosarcoma is a malignant tumor derived form pluripotential mesenchymal stem cells or smooth muscle cells [MPATH].
subclass of: HP_0010784
subclass of: HP_0100243
notation: HP:0002891

HP_0002892
IAO_0000231: IAO_0000227
IAO_0100001: HP_0006715
type: Class
deprecated: true
notation: HP:0002892

Pituitary adenoma
tree view: HP_0011750
IAO_0000115: A benign epithelial tumor derived from intrinsic cells of the adenohypophysis.
has db xref: ICD-O:M8272/0
has db xref: MSH:D010911
has db xref: NCIT:C2855
has db xref: SNOMEDCT_US:128664001
has db xref: SNOMEDCT_US:254956000
has db xref: UMLS:C0032000
has exact synonym: Noncancerous tumor in pituitary gland
has OBO namespace: human_phenotype
id: HP:0002893
type: Class
comment: In most cases pituitary adenoma are histologically benign, slow-growing, small neoplasms confined to the sella turcica. Some pituitary adenomas are more aggressive, grow faster, invade surrounding tissues, and cause local symptoms such as visual disturbances, headache, and varying degrees of hypopituitarism.
subclass of: HP_0011750
notation: HP:0002893

Neoplasm of the pancreas
tree view: Abnormality of the pancreas
tree view: HP_0011793
IAO_0000115: A tumor (abnormal growth of tissue) of the pancreas.
has alternative id: HP:0004511
has broad synonym: Pancreatic cancer
has db xref: MSH:D010190
has db xref: NCIT:C3262
has db xref: SNOMEDCT_US:126859007
has db xref: SNOMEDCT_US:363418001
has db xref: UMLS:C0030297
has db xref: UMLS:C0346647
has db xref: UMLS:C1842408
has exact synonym: Cancer of the pancreas
has exact synonym: Neoplasia of the pancreas
has exact synonym: Pancreatic tumor
has OBO namespace: human_phenotype
has related synonym: increased risk of pancreatic cancer
id: HP:0002894
type: Class
subclass of: Abnormality of the pancreas
subclass of: HP_0011793
notation: HP:0002894

Papillary thyroid carcinoma
tree view: Thyroid carcinoma
IAO_0000115: The presence of a papillary adenocarcinoma of the thyroid gland.
has db xref: MSH:C536915
has db xref: NCIT:C2853
has db xref: SNOMEDCT_US:255029007
has db xref: UMLS:C0238463
has exact synonym: Papillary carcinoma of thyroid
has exact synonym: Thyroid papillary carcinoma
has OBO namespace: human_phenotype
id: HP:0002895
type: Class
subclass of: Thyroid carcinoma
notation: HP:0002895

Neoplasm of the liver
tree view: Abnormality of the liver
tree view: HP_0007378
IAO_0000115: A tumor (abnormal growth of tissue) of the liver.
has db xref: MSH:D008113
has db xref: NCIT:C3262
has db xref: SNOMEDCT_US:126851005
has db xref: SNOMEDCT_US:93870000
has db xref: UMLS:C0023903
has db xref: UMLS:C0345904
has exact synonym: Liver cancer
has exact synonym: Liver tumor
has OBO namespace: human_phenotype
id: HP:0002896
type: Class
subclass of: Abnormality of the liver
subclass of: HP_0007378
notation: HP:0002896

Parathyroid adenoma
tree view: HP_0100733
IAO_0000115: A benign tumor of the parathyroid gland that can cause hyperparathyroidism.
has alternative id: HP:0008257
has db xref: ICD-10:D35.1
has db xref: MSH:D010282
has db xref: NCIT:C2855
has db xref: SNOMEDCT_US:128474007
has db xref: UMLS:C0262587
has exact synonym: Parathyroid adenomas
has OBO namespace: human_phenotype
id: HP:0002897
type: Class
subclass of: HP_0100733
notation: HP:0002897

Embryonal neoplasm
tree view: HP_0011792
has db xref: MSH:D009373
has db xref: UMLS:C0027654
has exact synonym: Embryonal neoplasia
has exact synonym: Embryonal tumors
has OBO namespace: human_phenotype
id: HP:0002898
type: Class
subclass of: HP_0011792
notation: HP:0002898

HP_0002899
IAO_0000231: IAO_0000227
IAO_0100001: Hepatocellular carcinoma
type: Class
deprecated: true
notation: HP:0002899

Hypokalemia
tree view: HP_0011042
IAO_0000115: An abnormally decreased potassium concentration in the blood.
has db xref: MSH:D007008
has db xref: SNOMEDCT_US:166690008
has db xref: SNOMEDCT_US:43339004
has db xref: UMLS:C0020621
has exact synonym: Low blood potassium levels
has OBO namespace: human_phenotype
id: HP:0002900
type: Class
subclass of: HP_0011042
notation: HP:0002900

Hypocalcemia
tree view: Abnormal circulating calcium concentration
IAO_0000115: An abnormally decreased calcium concentration in the blood.
has db xref: MSH:D006996
has db xref: SNOMEDCT_US:5291005
has db xref: UMLS:C0020598
has exact synonym: Hypocalcaemia
has exact synonym: Low blood calcium levels
has OBO namespace: human_phenotype
id: HP:0002901
type: Class
subclass of: Abnormal circulating calcium concentration
notation: HP:0002901

Hyponatremia
tree view: HP_0010931
IAO_0000115: An abnormally decreased sodium concentration in the blood.
has db xref: MSH:D007010
has db xref: SNOMEDCT_US:89627008
has db xref: UMLS:C0020625
has exact synonym: Low blood sodium levels
has OBO namespace: human_phenotype
id: HP:0002902
type: Class
subclass of: HP_0010931
notation: HP:0002902

HP_0002903
IAO_0000231: IAO_0000227
IAO_0100001: Aminoaciduria
type: Class
deprecated: true
notation: HP:0002903

Hyperbilirubinemia
tree view: HP_0032180
IAO_0000115: An increased amount of bilirubin in the blood.
has db xref: SNOMEDCT_US:26165005
has db xref: UMLS:C0311468
has exact synonym: High blood bilirubin levels
has OBO namespace: human_phenotype
id: HP:0002904
type: Class
subclass of: HP_0032180
notation: HP:0002904

Hyperphosphatemia
tree view: HP_0100529
IAO_0000115: An abnormally increased phosphate concentration in the blood.
has db xref: MSH:D054559
has db xref: SNOMEDCT_US:20165001
has db xref: UMLS:C0085681
has db xref: UMLS:C0553706
has exact synonym: High blood phosphate levels
has OBO namespace: human_phenotype
id: HP:0002905
type: Class
subclass of: HP_0100529
notation: HP:0002905

HP_0002906
IAO_0000231: IAO_0000227
IAO_0100001: Elevated serum creatine kinase
type: Class
deprecated: true
notation: HP:0002906

Microscopic hematuria
tree view: Hematuria
IAO_0000115: Microscopic hematuria detected by dipstick or microscopic examination of the urine.
has db xref: SNOMEDCT_US:197940006
has db xref: UMLS:C0239937
has exact synonym: Microhematuria
has exact synonym: Occult hematuria
has exact synonym: Small amount of blood in urine
has OBO namespace: human_phenotype
id: HP:0002907
type: Class
subclass of: Hematuria
notation: HP:0002907

Conjugated hyperbilirubinemia
tree view: Hyperbilirubinemia
has alternative id: HP:0008351
has db xref: SNOMEDCT_US:9326001
has db xref: UMLS:C0268307
has exact synonym: Direct hyperbilirubinemia
has OBO namespace: human_phenotype
id: HP:0002908
type: Class
subclass of: Hyperbilirubinemia
notation: HP:0002908

Generalized aminoaciduria
tree view: Aminoaciduria
IAO_0000115: An increased concentration of all types of amino acid in the urine.
has alternative id: HP:0008284
has alternative id: HP:0008317
has db xref: UMLS:C1847868
has exact synonym: Generalized nonspecific aminoaciduria
has OBO namespace: human_phenotype
id: HP:0002909
type: Class
comment: This abnormality is distinct from aminoacidurias in which the urinary concentration of a single amino acid, or a of single group of amino acids, is increased.
subclass of: Aminoaciduria
notation: HP:0002909

Elevated hepatic transaminase
tree view: HP_0410042
IAO_0000115: Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage.
has alternative id: HP:0001411
has alternative id: HP:0003143
has alternative id: HP:0003156
has alternative id: HP:0003293
has alternative id: HP:0006567
has alternative id: HP:0006578
has alternative id: HP:0008267
has alternative id: HP:0008342
has db xref: MSH:D008107
has db xref: SNOMEDCT_US:166603001
has db xref: SNOMEDCT_US:166643006
has db xref: SNOMEDCT_US:75183008
has db xref: UMLS:C0086565
has db xref: UMLS:C0151766
has db xref: UMLS:C0235996
has db xref: UMLS:C0438237
has db xref: UMLS:C0438717
has db xref: UMLS:C0877359
has db xref: UMLS:C1842003
has db xref: UMLS:C1848701
has exact synonym: Abnormal liver enzymes
has exact synonym: Abnormal liver function
has exact synonym: Abnormal liver function tests
has exact synonym: Elevated liver enzymes
has exact synonym: Elevated serum transaminases
has exact synonym: Elevated transaminases
has exact synonym: High liver enzymes
has exact synonym: Increased liver enzymes
has exact synonym: Increased liver function tests
has exact synonym: Increased transaminases
has exact synonym: Subclinical abnormal liver function tests
has OBO namespace: human_phenotype
has related synonym: Elevated liver function tests
id: HP:0002910
type: Class
subclass of: HP_0410042
notation: HP:0002910

HP_0002911
IAO_0000231: IAO_0000227
IAO_0100001: Elevated alkaline phosphatase
type: Class
deprecated: true
notation: HP:0002911

Methylmalonic acidemia
tree view: Abnormality of vitamin B12 metabolism
tree view: HP_0010995
tree view: HP_0032368
IAO_0000115: Increased concentration of methylmalonic acid in the blood.
has alternative id: HP:0003123
has alternative id: HP:0008295
has db xref: MSH:C537358
has db xref: SNOMEDCT_US:42393006
has db xref: UMLS:C0268583
has OBO namespace: human_phenotype
id: HP:0002912
type: Class
comment: Methylmalonic aciduria is a genetically heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism.
subclass of: Abnormality of vitamin B12 metabolism
subclass of: HP_0010995
subclass of: HP_0032368
notation: HP:0002912

Myoglobinuria
tree view: Abnormality of urine homeostasis
IAO_0000115: Presence of myoglobin in the urine.
has db xref: MSH:D009212
has db xref: SNOMEDCT_US:48165008
has db xref: UMLS:C0027080
has OBO namespace: human_phenotype
id: HP:0002913
type: Class
comment: Myoglobinuria is usually associated with rhabdomyolysis or muscle destruction.
subclass of: Abnormality of urine homeostasis
notation: HP:0002913

Hyperchloriduria
tree view: HP_0012600
IAO_0000115: An increased concentration of chloride in the urine.
has db xref: UMLS:C1846352
has exact synonym: Increased urinary chloride
has OBO namespace: human_phenotype
id: HP:0002914
type: Class
subclass of: HP_0012600
notation: HP:0002914

HP_0002915
IAO_0000231: IAO_0000227
IAO_0100001: Abnormality of chromosome stability
type: Class
deprecated: true
notation: HP:0002915

Abnormality of chromosome segregation
tree view: HP_0011017
IAO_0000115: An abnormality of chromosome segregation.
has db xref: UMLS:C4025670
has OBO namespace: human_phenotype
id: HP:0002916
type: Class
subclass of: HP_0011017
notation: HP:0002916

Hypomagnesemia
tree view: Abnormal magnesium concentration
IAO_0000115: An abnormally decreased magnesium concentration in the blood.
has alternative id: HP:0003284
has db xref: SNOMEDCT_US:190855004
has db xref: UMLS:C0151723
has exact synonym: Low blood Mg levels
has exact synonym: Low blood magnesium levels
has OBO namespace: human_phenotype
id: HP:0002917
type: Class
subclass of: Abnormal magnesium concentration
notation: HP:0002917

Hypermagnesemia
tree view: Abnormal magnesium concentration
IAO_0000115: An abnormally increased magnesium concentration in the blood.
has db xref: SNOMEDCT_US:66978005
has db xref: UMLS:C0151714
has exact synonym: High blood Mg levels
has exact synonym: High blood magnesium levels
has OBO namespace: human_phenotype
id: HP:0002918
type: Class
subclass of: Abnormal magnesium concentration
notation: HP:0002918

Ketonuria
tree view: Abnormality of urine homeostasis
IAO_0000115: High levels of ketone bodies in the urine.
has db xref: MSH:D007662
has db xref: SNOMEDCT_US:274783007
has db xref: SNOMEDCT_US:36815008
has db xref: UMLS:C0162275
has exact synonym: Ketonaciduria
has exact synonym: Ketone bodies in urine
has OBO namespace: human_phenotype
has related synonym: Acetonuria
has related synonym: Ketoaciduria
id: HP:0002919
type: Class
comment: Acetone is the main component of the ketone bodies.
subclass of: Abnormality of urine homeostasis
notation: HP:0002919

Decreased circulating ACTH level
tree view: HP_0011043
IAO_0000115: An abnormal reduction in the concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), in the blood.
has db xref: UMLS:C4025669
has OBO namespace: human_phenotype
id: HP:0002920
type: Class
subclass of: HP_0011043
notation: HP:0002920

Abnormality of the cerebrospinal fluid
tree view: Morphological abnormality of the central nervous system
IAO_0000115: An abnormality of the cerebrospinal fluid (CSF).
has db xref: UMLS:C0151583
has exact synonym: Abnormal CSF findings
has exact synonym: Abnormality of the CSF
has OBO namespace: human_phenotype
id: HP:0002921
type: Class
comment: The cerebrospinal fluid (CSF) is secreted by the choroid plexus, and flows uninterrupted throughout the central nervous system (the central cerebrospinal canal of the spinal cord and through the four interconnected cerebral ventricles in the brain).
subclass of: Morphological abnormality of the central nervous system
notation: HP:0002921

Increased CSF protein
tree view: HP_0025456
IAO_0000115: Increased concentration of protein in the cerebrospinal fluid.
has db xref: UMLS:C1806780
has exact synonym: Cerebrospinal fluid protein increased
has exact synonym: Cerebrospinal fluid with increased protein
has exact synonym: Elevated cerebrospinal fluid protein
has exact synonym: Elevated csf protein
has exact synonym: Hyperproteinorrhachia
has exact synonym: Increased protein in csf
has exact synonym: Spinal fluid protein elevated
has OBO namespace: human_phenotype
id: HP:0002922
type: Class
subclass of: HP_0025456
notation: HP:0002922

Rheumatoid factor positive
tree view: HP_0030057
IAO_0000115: The presence in the serum of an autoantibody directed against the Fc portion of IgG.
has db xref: SNOMEDCT_US:165839004
has db xref: UMLS:C0151379
has OBO namespace: human_phenotype
id: HP:0002923
type: Class
subclass of: HP_0030057
notation: HP:0002923

obsolete Decreased circulating aldosterone level
IAO_0000231: IAO_0000227
IAO_0100001: Decreased circulating aldosterone level
IAO_0100001: HP:0004319
has OBO namespace: human_phenotype
id: HP:0002924
type: Class
deprecated: true
notation: HP:0002924

Increased thyroid-stimulating hormone level
tree view: HP_0031097
IAO_0000115: Overproduction of thyroid-stimulating hormone (TSH) by the anterior pituitary gland.
has db xref: SNOMEDCT_US:309080005
has db xref: UMLS:C0586553
has exact synonym: Elevated thyroid stimulating hormone
has exact synonym: Elevated thyroid stimulating hormone levels
has exact synonym: High TSH
has exact synonym: Increased serum thyroid-stimulating hormone
has exact synonym: Increased thyroid-stimulating hormone
has exact synonym: Increased thyrotropin level
has exact synonym: TSH excess
has exact synonym: Thyroid-stimulating hormone excess
has OBO namespace: human_phenotype
id: HP:0002925
type: Class
subclass of: HP_0031097
notation: HP:0002925

Abnormality of thyroid physiology
tree view: Abnormality of the thyroid gland
IAO_0000115: An abnormal functionality of the thyroid gland.
has db xref: UMLS:C0857576
has exact synonym: Abnormal thyroid function
has OBO namespace: human_phenotype
id: HP:0002926
type: Class
subclass of: Abnormality of the thyroid gland
notation: HP:0002926

Histidinuria
tree view: Aminoaciduria
IAO_0000115: An increased concentration of histidine in the urine.
has alternative id: HP:0010905
has db xref: MSH:C538321
has db xref: SNOMEDCT_US:78311009
has db xref: UMLS:C0268642
has exact synonym: High urine histidine levels
has OBO namespace: human_phenotype
id: HP:0002927
type: Class
comment: Normal urinary histidine total (free and combined form) excretion is around 190 mg per 24 hours.
subclass of: Aminoaciduria
notation: HP:0002927

Decreased activity of the pyruvate dehydrogenase complex
tree view: Abnormality of mitochondrial metabolism
has db xref: UMLS:C1839888
has exact synonym: Decreased activity of the PDH complex
has exact synonym: Pyruvate dehydrogenase complex deficiency
has OBO namespace: human_phenotype
id: HP:0002928
type: Class
subclass of: Abnormality of mitochondrial metabolism
notation: HP:0002928

Leydig cell insensitivity to gonadotropin
tree view: HP_0008373
has db xref: UMLS:C4025668
has OBO namespace: human_phenotype
id: HP:0002929
type: Class
subclass of: HP_0008373
notation: HP:0002929

Thyroid hormone receptor defect
tree view: Abnormality of thyroid physiology
IAO_0000115: Thyroid hormone resistance because of a defect in the thyroid hormone receptor.
has alternative id: HP:0008215
has alternative id: HP:0008243
has alternative id: HP:0008262
has db xref: MSH:D018382
has db xref: SNOMEDCT_US:111567006
has db xref: SNOMEDCT_US:237559000
has db xref: SNOMEDCT_US:237560005
has db xref: SNOMEDCT_US:50375007
has db xref: UMLS:C2940786
has exact synonym: End-organ unresponsiveness to thyroid hormone
has exact synonym: Resistance to thyroid hormone
has exact synonym: Thyroid hormone resistance
has OBO namespace: human_phenotype
id: HP:0002930
type: Class
subclass of: Abnormality of thyroid physiology
notation: HP:0002930

HP_0002931
IAO_0000231: IAO_0000227
IAO_0100001: Hyperglycinuria
type: Class
deprecated: true
notation: HP:0002931

Aldehyde oxidase deficiency
tree view: HP_0012379
IAO_0000115: A reduction in aldehyde oxidase activity.
has db xref: SNOMEDCT_US:124161002
has db xref: UMLS:C1291266
has OBO namespace: human_phenotype
id: HP:0002932
type: Class
comment: Aldehyde oxidase generates carboxylic acids from aldehydes.
subclass of: HP_0012379
notation: HP:0002932

Ventral hernia
tree view: Hernia of the abdominal wall
IAO_0000115: Ventral hernia refers to a condition in which abdominal contents protrude through a weakened portion of the abdominal wall.
has db xref: MSH:D006555
has db xref: SNOMEDCT_US:414396006
has db xref: UMLS:C0019326
has OBO namespace: human_phenotype
id: HP:0002933
type: Class
subclass of: Hernia of the abdominal wall
notation: HP:0002933

HP_0002934
IAO_0000231: IAO_0000227
IAO_0100001: Distal amyotrophy
type: Class
deprecated: true
notation: HP:0002934

HP_0002935
IAO_0000231: IAO_0000227
IAO_0100001: Distal muscle weakness
type: Class
deprecated: true
notation: HP:0002935

Distal sensory impairment
tree view: Sensory impairment
IAO_0000115: An abnormal reduction in sensation in the distal portions of the extremities.
has alternative id: HP:0003476
has alternative id: HP:0006843
has alternative id: HP:0006845
has alternative id: HP:0006922
has alternative id: HP:0006971
has alternative id: HP:0006993
has alternative id: HP:0007138
has alternative id: HP:0007292
has alternative id: HP:0007296
has db xref: UMLS:C1847584
has exact synonym: Decreased distal sensation
has exact synonym: Decreased sensation in extremities
has exact synonym: Distal sensation loss
has exact synonym: Distal sensory impairment in lower limbs
has exact synonym: Distal sensory impairment of the lower extremities
has exact synonym: Distal sensory loss
has exact synonym: Distal sensory loss, upper and lower limbs
has exact synonym: Loss of distal sensation
has OBO namespace: human_phenotype
id: HP:0002936
type: Class
subclass of: Sensory impairment
notation: HP:0002936

Hemivertebrae
tree view: Abnormal form of the vertebral bodies
tree view: Vertebral segmentation defect
IAO_0000115: Absence of one half of the vertebral body.
has db xref: SNOMEDCT_US:68359008
has db xref: UMLS:C0265677
has exact synonym: Hemi-vertebrae
has exact synonym: Hemivertebra
has exact synonym: Missing part of vertebrae
has OBO namespace: human_phenotype
id: HP:0002937
in subset: hposlim core
type: Class
comment: Lateral hemivertebrae represent a developmental defect resulting from the failure of the contralateral chondral center to develop. Dorsal hemivertebrae result from a developmental defect in which the anterior chondral centers fail to develop, and ventral hemivertebrae result from failure of the posterior centers to ossify. The affected half of the vertebral body may by hypoplastic or absent, as is the pedicle, and (for thoracic vetebrae) the corresponding rib. The affected half of the vertebral body may also show a fusion or segmentation defect.
subclass of: Abnormal form of the vertebral bodies
subclass of: Vertebral segmentation defect
notation: HP:0002937

Lumbar hyperlordosis
tree view: Hyperlordosis
IAO_0000115: An abnormal accentuation of the inward curvature of the spine in the lumbar region.
has alternative id: HP:0002941
has alternative id: HP:0004560
has alternative id: HP:0004574
has alternative id: HP:0004596
has db xref: UMLS:C1184923
has exact synonym: Exaggerated lumbar lordosis
has exact synonym: Excessive inward curvature of lower spine
has exact synonym: Increased lumbar lordosis
has exact synonym: Lumbar lordosis
has exact synonym: Prominent lumbar lordosis
has OBO namespace: human_phenotype
id: HP:0002938
type: Class
subclass of: Hyperlordosis
notation: HP:0002938

HP_0002939
IAO_0000231: IAO_0000227
IAO_0100001: Hyperlordosis
type: Class
deprecated: true
notation: HP:0002939

HP_0002940
IAO_0000231: IAO_0000227
IAO_0100001: Platyspondyly
type: Class
deprecated: true
notation: HP:0002940

HP_0002941
IAO_0000231: IAO_0000227
IAO_0100001: Lumbar hyperlordosis
type: Class
deprecated: true
notation: HP:0002941

Thoracic kyphosis
tree view: Kyphosis
tree view: HP_0100711
IAO_0000115: Over curvature of the thoracic region, leading to a round back or if sever to a hump.
has db xref: UMLS:C1184919
has exact synonym: Accentuated thoracic kyphosis
has exact synonym: Exaggerated thoracic kyphosis
has OBO namespace: human_phenotype
id: HP:0002942
type: Class
subclass of: Kyphosis
subclass of: HP_0100711
notation: HP:0002942

Thoracic scoliosis
tree view: Scoliosis
tree view: HP_0100711
has alternative id: HP:0004615
has db xref: UMLS:C1857790
has OBO namespace: human_phenotype
id: HP:0002943
type: Class
subclass of: Scoliosis
subclass of: HP_0100711
notation: HP:0002943

Thoracolumbar scoliosis
tree view: Scoliosis
has alternative id: HP:0004567
has alternative id: HP:0004585
has db xref: UMLS:C0749379
has exact synonym: Scoliosis, thoracolumbar
has OBO namespace: human_phenotype
id: HP:0002944
type: Class
subclass of: Scoliosis
notation: HP:0002944

Intervertebral space narrowing
tree view: HP_0005108
IAO_0000115: Decreased height of the intervertebral disk.
has db xref: SNOMEDCT_US:11301007
has db xref: UMLS:C0263870
has exact synonym: Narrow intervertebral disc spaces
has exact synonym: Narrow intervertebral spaces
has OBO namespace: human_phenotype
id: HP:0002945
type: Class
comment: A decrease in the height of the intervertebral disks is usually observed as a narrowing of the space between the vertebrae on X-ray examination.
subclass of: HP_0005108
notation: HP:0002945

Supernumerary vertebrae
tree view: HP_0009144
tree view: HP_0030304
has db xref: SNOMEDCT_US:87294007
has db xref: UMLS:C0265681
has OBO namespace: human_phenotype
id: HP:0002946
type: Class
subclass of: HP_0009144
subclass of: HP_0030304
notation: HP:0002946

Cervical kyphosis
tree view: Kyphosis
tree view: HP_0005905
IAO_0000115: Exaggerated convexity of the cervical vertebral column, causing the cervical spine to bow outwards and take on a rounded appearance.
has db xref: SNOMEDCT_US:298393001
has db xref: UMLS:C0575170
has exact synonym: Rounded neck
has OBO namespace: human_phenotype
id: HP:0002947
type: Class
subclass of: Kyphosis
subclass of: HP_0005905
notation: HP:0002947

Vertebral fusion
tree view: Vertebral segmentation defect
tree view: HP_0100240
IAO_0000115: A developmental defect leading to the union of two adjacent vertebrae.
has alternative id: HP:0002807
has alternative id: HP:0008471
has alternative id: HP:0008485
has db xref: UMLS:C1835763
has db xref: UMLS:C1849073
has db xref: UMLS:C3278509
has exact synonym: Fused vertebrae
has exact synonym: Fusion of vertebral bodies
has exact synonym: Spinal fusion
has exact synonym: Vertebral body fusion
has OBO namespace: human_phenotype
id: HP:0002948
in subset: hposlim core
type: Class
subclass of: Vertebral segmentation defect
subclass of: HP_0100240
notation: HP:0002948

Fused cervical vertebrae
tree view: Vertebral fusion
IAO_0000115: A congenital anomaly characterized by a joining (fusion) of two or more cervical vertebral bodies with one another.
has db xref: UMLS:C3887527
has exact synonym: Cervical spine fusion
has exact synonym: Cervical vertebral fusion
has exact synonym: Fused neck
has exact synonym: Fusion of cervical vertebrae
has OBO namespace: human_phenotype
id: HP:0002949
type: Class
subclass of: Vertebral fusion
notation: HP:0002949

HP_0002950
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009601
type: Class
deprecated: true
notation: HP:0002950

Partial absence of cerebellar vermis
tree view: HP_0006817
IAO_0000115: Congenital absence of a part of the vermis of cerebellum.
has db xref: UMLS:C4025667
has OBO namespace: human_phenotype
id: HP:0002951
type: Class
subclass of: HP_0006817
notation: HP:0002951

HP_0002952
IAO_0000231: IAO_0000227
IAO_0100001: Biconcave vertebral bodies
type: Class
deprecated: true
notation: HP:0002952

Vertebral compression fractures
tree view: Abnormal vertebral morphology
has db xref: SNOMEDCT_US:42942008
has db xref: SNOMEDCT_US:84138006
has db xref: UMLS:C0262431
has db xref: UMLS:C0410550
has exact synonym: Compression fracture
has exact synonym: Fractures of vertebral bodies
has exact synonym: Vertebral body compression
has exact synonym: Vertebral collapse
has exact synonym: Vertebral compression
has exact synonym: Vertebral compression or collapse
has OBO namespace: human_phenotype
id: HP:0002953
type: Class
subclass of: Abnormal vertebral morphology
notation: HP:0002953

HP_0002954
IAO_0000231: IAO_0000227
IAO_0100001: Retrognathia
type: Class
deprecated: true
notation: HP:0002954

Granulomatosis
tree view: Abnormal macrophage morphology
IAO_0000115: A granulomatous inflammation leading to multiple granuloma formation, which is a specific type of inflammation. A granuloma is a focal compact collection of inflammatory cells, mononuclear cells predominating, usually as a result of the persistence of a non-degradable product and of active cell mediated hypersensitivity.
has db xref: SNOMEDCT_US:443138004
has db xref: SNOMEDCT_US:44328006
has db xref: UMLS:C0521173
has OBO namespace: human_phenotype
id: HP:0002955
type: Class
comment: This finding can be demonstrated by tissue biopsy. A granuloma is a compact (organized) collection of mature mononuclear phagocytes (macrophages and/or epithelioid cells) which may or may not be accompanied by accessory features such as necrosis or the infiltration of other inflammatory leukocytes (Adams DO. The granulomatous inflammatory response. Am J Pathol 1976:84:163-192).
subclass of: Abnormal macrophage morphology
notation: HP:0002955

HP_0002956
IAO_0000231: IAO_0000227
IAO_0100001: HP_0010976
type: Class
deprecated: true
notation: HP:0002956

HP_0002957
IAO_0000231: IAO_0000227
IAO_0100001: Recurrent infections
type: Class
deprecated: true
notation: HP:0002957

Immune dysregulation
tree view: HP_0010978
IAO_0000115: Altered immune function characterized by lymphoid proliferation, immune activation, and excessive autoreactivity often leading to autoimmune/inflammatory complications.
has db xref: UMLS:C1844666
has exact synonym: Immune dysregulation
has exact synonym: Unregulated immune response
has OBO namespace: human_phenotype
id: HP:0002958
type: Class
subclass of: HP_0010978
notation: HP:0002958

Impaired Ig class switch recombination
tree view: HP_0005372
IAO_0000115: An impairment of the class-switch recombination process that normally leads B lymphocytes to produce IgG, IgA, or IgE.
has db xref: UMLS:C1842528
has exact synonym: Impaired B-lymphocyte isotype switching
has OBO namespace: human_phenotype
id: HP:0002959
type: Class
comment: The generation of the antibody repertoire requires two successive steps. The first is antigen- and T-cell-independent; it takes place in the fetal liver and the bone marrow. Immature B lymphocytes rearrange their immunoglobulin-gene variable segments (V segments), diversity segments (D segments) and joining segments (J segments), producing a functionally integrated VDJ segment linked to the mu constant region (C-mu), which determines the primary antibody repertoire composed of IgM antibodies. The second step is antigen- and T-cell-dependent and takes place in secondary lymphoid organs. After encountering antigen, B cells proliferate and form germinal centers. In this unique anatomic formation, two genetic events lead to generation of the secondary antibody repertoire: class-switch recombination (CSR) and somatic hypermutation (SHM). CSR of immunoglobulins occurs by a recombination process between two different switch regions (S regions) located upstream of each C region. Replacement of C-mu by a constant region of another class of immunoglobulin (C-gamma, C-alpha or C-epsilon) ensues and leads to the production of IgG, IgA or IgE.
subclass of: HP_0005372
notation: HP:0002959

Autoimmunity
tree view: HP_0010978
IAO_0000115: The occurrence of an immune reaction against the organism's own cells or tissues.
has db xref: MSH:D001327
has db xref: SNOMEDCT_US:85828009
has db xref: UMLS:C0004364
has exact synonym: Autoimmune condition
has exact synonym: Autoimmune disease
has exact synonym: Autoimmune disorder
has exact synonym: Autoimmunity
has OBO namespace: human_phenotype
id: HP:0002960
type: Class
subclass of: HP_0010978
notation: HP:0002960

Dysgammaglobulinemia
tree view: Decreased antibody level in blood
IAO_0000115: Selective deficiency of one or more, but not all, classes of immunoglobulins.
has db xref: MSH:D004406
has db xref: SNOMEDCT_US:123782009
has db xref: UMLS:C0013374
has OBO namespace: human_phenotype
id: HP:0002961
type: Class
subclass of: Decreased antibody level in blood
notation: HP:0002961

HP_0002962
IAO_0000231: IAO_0000227
IAO_0100001: Increased circulating IgM level
type: Class
deprecated: true
notation: HP:0002962

Abnormal delayed hypersensitivity skin test
tree view: HP_0011840
IAO_0000115: Delay in cutaneous immune reaction to specific antigens mediated not by antibodies but by cells. The delayed hypersensitivity test is an immune function test measuring the presence of activated T cells that recognize a specific antigen and is performed by injecting a small amount of the antigen into the skin. The area of the injection is examined 48-72 hours thereafter.
has db xref: UMLS:C1833172
has OBO namespace: human_phenotype
id: HP:0002963
type: Class
comment: This is an immune function test measuring the presence of activated T cells that recognize a certain substance.
subclass of: HP_0011840
notation: HP:0002963

HP_0002964
IAO_0000231: IAO_0000227
IAO_0100001: Recurrent infections
type: Class
deprecated: true
notation: HP:0002964

Cutaneous anergy
tree view: Abnormal delayed hypersensitivity skin test
IAO_0000115: Inability to react to a delayed hypersensitivity skin test.
has alternative id: HP:0005427
has db xref: UMLS:C1855781
has exact synonym: Absence of delayed hypersensitivity skin test
has exact synonym: Lack of delayed skin hypersensitivity reaction
has OBO namespace: human_phenotype
id: HP:0002965
type: Class
comment: Anergy skin testing assesses the responses to skin-test antigens to which a cell-mediated, delayed-type hypersensitivity (DTH) response is expected.
subclass of: Abnormal delayed hypersensitivity skin test
notation: HP:0002965

HP_0002966
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009811
type: Class
deprecated: true
notation: HP:0002966

Cubitus valgus
tree view: HP_0009811
IAO_0000115: Abnormal positioning in which the elbows are turned out.
has db xref: SNOMEDCT_US:54583007
has db xref: UMLS:C0158465
has exact synonym: Outward turned elbows
has OBO namespace: human_phenotype
id: HP:0002967
in subset: hposlim core
type: Class
subclass of: HP_0009811
notation: HP:0002967

HP_0002968
IAO_0000231: IAO_0000227
IAO_0100001: HP_0008905
type: Class
deprecated: true
notation: HP:0002968

HP_0002969
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009815
type: Class
deprecated: true
notation: HP:0002969

Genu varum
tree view: Abnormality of the knee
tree view: Bowing of the legs
IAO_0000115: A positional abnormality marked by outward bowing of the legs in which the knees stay wide apart when a person stands with the feet and ankles together.
has alternative id: HP:0003052
has db xref: MSH:D056305
has db xref: SNOMEDCT_US:299331007
has db xref: UMLS:C0544755
has exact synonym: Genu vara
has exact synonym: Genua vara
has exact synonym: Outward bow-leggedness
has exact synonym: Outward bowing at knees
has OBO namespace: human_phenotype
id: HP:0002970
in subset: hposlim core
type: Class
subclass of: Abnormality of the knee
subclass of: Bowing of the legs
notation: HP:0002970

Absent microvilli on the surface of peripheral blood lymphocytes
tree view: Abnormal lymphocyte morphology
IAO_0000115: Absence of the fingerlike protrusive, actin-dependent structures found on the surface of peripheral blood lymphocytes.
has db xref: UMLS:C1833173
has OBO namespace: human_phenotype
id: HP:0002971
type: Class
subclass of: Abnormal lymphocyte morphology
notation: HP:0002971

Reduced delayed hypersensitivity
tree view: Abnormal delayed hypersensitivity skin test
IAO_0000115: Decreased ability to react to a delayed hypersensitivity skin test.
has alternative id: HP:0005434
has db xref: UMLS:C1843386
has exact synonym: Decreased reactivity to skin test antigens
has exact synonym: Deficiency of delayed skin hypersensitivity
has exact synonym: Impaired delayed hypersensitivity
has OBO namespace: human_phenotype
id: HP:0002972
type: Class
subclass of: Abnormal delayed hypersensitivity skin test
notation: HP:0002972

Abnormality of the forearm
tree view: Abnormality of the upper limb
IAO_0000115: An abnormality of the lower arm.
has db xref: UMLS:C4025666
has exact synonym: Abnormality of the forearm
has OBO namespace: human_phenotype
id: HP:0002973
in subset: hposlim core
type: Class
subclass of: Abnormality of the upper limb
notation: HP:0002973

Radioulnar synostosis
tree view: Abnormality of the radius
tree view: Abnormality of the ulna
tree view: HP_0100238
IAO_0000115: An abnormal osseous union (fusion) between the radius and the ulna.
has alternative id: HP:0003962
has db xref: MEDDRA:10037798
has db xref: MSH:C562408
has db xref: SNOMEDCT_US:33313004
has db xref: UMLS:C0158761
has exact synonym: Fused forearm bones
has OBO namespace: human_phenotype
id: HP:0002974
in subset: hposlim core
type: Class
subclass of: Abnormality of the radius
subclass of: Abnormality of the ulna
subclass of: HP_0100238
notation: HP:0002974

HP_0002975
IAO_0000231: IAO_0000227
IAO_0100001: Dislocated radial head
type: Class
deprecated: true
notation: HP:0002975

HP_0002976
IAO_0000231: IAO_0000227
IAO_0100001: HP_0006487
type: Class
deprecated: true
notation: HP:0002976

Aplasia/Hypoplasia involving the central nervous system
tree view: Morphological abnormality of the central nervous system
IAO_0000115: Absence or underdevelopment of tissue in the central nervous system.
created by: peter
creation date: 2008-03-31T05:13:00Z
has alternative id: HP:0001323
has db xref: UMLS:C4025665
has exact synonym: Absent/underdeveloped central nervous system tissue
has exact synonym: Aplasia/Hypoplasia involving the CNS
has OBO namespace: human_phenotype
id: HP:0002977
type: Class
subclass of: Morphological abnormality of the central nervous system
notation: HP:0002977

HP_0002978
IAO_0000231: IAO_0000227
IAO_0100001: HP_0006380
type: Class
deprecated: true
notation: HP:0002978

Bowing of the legs
tree view: Abnormality of the calf
tree view: HP_0006487
IAO_0000115: A bending or abnormal curvature affecting a long bone of the leg.
has alternative id: HP:0006428
has db xref: MSH:D056305
has db xref: SNOMEDCT_US:299331007
has db xref: UMLS:C0544755
has exact synonym: Bow legs
has exact synonym: Bow-leggedness
has exact synonym: Bowed legs
has exact synonym: Bowed lower limbs
has OBO namespace: human_phenotype
id: HP:0002979
type: Class
subclass of: Abnormality of the calf
subclass of: HP_0006487
notation: HP:0002979

Femoral bowing
tree view: Abnormality of femur morphology
tree view: Bowing of the legs
IAO_0000115: Bowing (abnormal curvature) of the femur.
has alternative id: HP:0004998
has db xref: UMLS:C1859461
has exact synonym: Bowed femur
has exact synonym: Bowed femura
has exact synonym: Bowed femurs
has exact synonym: Bowed thighbone
has OBO namespace: human_phenotype
id: HP:0002980
in subset: hposlim core
type: Class
subclass of: Abnormality of femur morphology
subclass of: Bowing of the legs
notation: HP:0002980

Abnormality of the calf
tree view: Abnormality of the lower limb
IAO_0000115: An abnormality of the calf, i.e. of the posterior part of the lower leg.
has db xref: UMLS:C4021832
has exact synonym: Abnormality of the calf
has OBO namespace: human_phenotype
id: HP:0002981
type: Class
subclass of: Abnormality of the lower limb
notation: HP:0002981

Tibial bowing
tree view: Bowing of the legs
tree view: Abnormality of tibia morphology
IAO_0000115: A bending or abnormal curvature of the tibia.
has alternative id: HP:0006363
has db xref: UMLS:C1837081
has exact synonym: Bowed shankbone
has exact synonym: Bowed shinbone
has exact synonym: Bowed tibia
has exact synonym: Bowing of the tibia
has OBO namespace: human_phenotype
id: HP:0002982
in subset: hposlim core
type: Class
comment: A developmental defect with posteromedial tibial angulation.
subclass of: Bowing of the legs
subclass of: Abnormality of tibia morphology
notation: HP:0002982

Micromelia
tree view: HP_0009826
IAO_0000115: The presence of abnormally small extremities.
has alternative id: HP:0003030
has alternative id: HP:0005753
has db xref: MEDDRA:10027546
has db xref: SNOMEDCT_US:74370006
has db xref: UMLS:C0025995
has exact synonym: Smaller or shorter than typical limbs
has OBO namespace: human_phenotype
id: HP:0002983
in subset: hposlim core
type: Class
subclass of: HP_0009826
notation: HP:0002983

Hypoplasia of the radius
tree view: HP_0006501
tree view: HP_0009821
tree view: HP_0045009
IAO_0000115: Underdevelopment of the radius.
has alternative id: HP:0002995
has alternative id: HP:0004989
has alternative id: HP:0005014
has alternative id: HP:0005081
has alternative id: HP:0005714
has alternative id: HP:0006418
has db xref: SNOMEDCT_US:205170001
has db xref: SNOMEDCT_US:93288001
has db xref: UMLS:C0685381
has db xref: UMLS:C1840087
has exact synonym: Hypoplastic radii
has exact synonym: Hypoplastic radius
has exact synonym: Radial hypoplasia
has exact synonym: Short radii
has exact synonym: Short radius
has exact synonym: Shortening of radius
has exact synonym: Underdeveloped outer large forearm bone
has OBO namespace: human_phenotype
has related synonym: Radial ray hypoplasia
id: HP:0002984
in subset: hposlim core
type: Class
subclass of: HP_0006501
subclass of: HP_0009821
subclass of: HP_0045009
notation: HP:0002984

HP_0002985
IAO_0000231: IAO_0000227
IAO_0100001: Fibular hypoplasia
type: Class
deprecated: true
notation: HP:0002985

Radial bowing
tree view: Bowed forearm bones
tree view: HP_0045008
IAO_0000115: A bending or abnormal curvature of the radius.
has alternative id: HP:0004996
has db xref: UMLS:C1859399
has exact synonym: Bowed radii
has exact synonym: Bowed radius
has exact synonym: Bowing of outer large bone of the forearm
has exact synonym: Bowing of radius bone of the forearm
has OBO namespace: human_phenotype
id: HP:0002986
in subset: hposlim core
type: Class
subclass of: Bowed forearm bones
subclass of: HP_0045008
notation: HP:0002986

Elbow flexion contracture
tree view: Limited elbow movement
tree view: HP_0100360
IAO_0000115: A chronic loss of elbow joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the elbow.
has alternative id: HP:0003937
has alternative id: HP:0004984
has alternative id: HP:0005654
has db xref: SNOMEDCT_US:202271004
has db xref: UMLS:C0409338
has exact synonym: Contracture of elbow joint
has exact synonym: Contractures of elbows
has exact synonym: Contractures of the elbows
has exact synonym: Elbow contracture
has exact synonym: Elbow contractures
has exact synonym: Elbow flexion contractures
has exact synonym: Elbow flexion deformity
has exact synonym: Fixed flexion at the elbow joint
has OBO namespace: human_phenotype
id: HP:0002987
type: Class
subclass of: Limited elbow movement
subclass of: HP_0100360
notation: HP:0002987

HP_0002988
IAO_0000231: IAO_0000227
IAO_0100001: Abnormality of the humerus
type: Class
deprecated: true
notation: HP:0002988

HP_0002989
IAO_0000231: IAO_0000227
IAO_0100001: HP_0005792
type: Class
deprecated: true
notation: HP:0002989

Fibular aplasia
tree view: HP_0006492
IAO_0000115: Absence of the fibula.
has alternative id: HP:0006373
has db xref: MEDDRA:10054882
has db xref: UMLS:C1836186
has exact synonym: Absent calf bone
has exact synonym: Absent fibulae
has exact synonym: Absent-hypoplastic fibulae
has OBO namespace: human_phenotype
id: HP:0002990
in subset: hposlim core
type: Class
subclass of: HP_0006492
notation: HP:0002990

Abnormality of fibula morphology
tree view: Abnormality of the calf
tree view: HP_0040066
IAO_0000115: An anomaly of the calf bone (fibula), one of the two bones of the calf.
has db xref: UMLS:C4025664
has exact synonym: Abnormality of the calf bone
has OBO namespace: human_phenotype
id: HP:0002991
in subset: hposlim core
type: Class
subclass of: Abnormality of the calf
subclass of: HP_0040066
notation: HP:0002991

Abnormality of tibia morphology
tree view: Abnormality of the calf
tree view: HP_0040066
IAO_0000115: Abnormality of the tibia (shinbone).
has db xref: UMLS:C4025663
has exact synonym: Abnormality of the shankbone
has exact synonym: Abnormality of the shinbone
has OBO namespace: human_phenotype
id: HP:0002992
type: Class
subclass of: Abnormality of the calf
subclass of: HP_0040066
notation: HP:0002992

HP_0002993
IAO_0000231: IAO_0000227
IAO_0100001: HP_0005736
type: Class
deprecated: true
notation: HP:0002993

HP_0002994
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009829
type: Class
deprecated: true
notation: HP:0002994

HP_0002995
IAO_0000231: IAO_0000227
IAO_0100001: Hypoplasia of the radius
type: Class
deprecated: true
notation: HP:0002995

Limited elbow movement
tree view: Limitation of joint mobility
tree view: HP_0009811
has alternative id: HP:0006395
has db xref: UMLS:C1849955
has exact synonym: Decreased elbow mobility
has exact synonym: Limited elbow mobility
has exact synonym: Limited elbow movement
has exact synonym: Restricted elbow motion
has OBO namespace: human_phenotype
id: HP:0002996
type: Class
subclass of: Limitation of joint mobility
subclass of: HP_0009811
notation: HP:0002996

Abnormality of the ulna
tree view: HP_0040072
IAO_0000115: An abnormality of the ulna bone of the forearm.
has db xref: UMLS:C4025662
has OBO namespace: human_phenotype
id: HP:0002997
in subset: hposlim core
type: Class
subclass of: HP_0040072
notation: HP:0002997

HP_0002998
IAO_0000231: IAO_0000227
IAO_0100001: Hypoplasia of the ulna
type: Class
deprecated: true
notation: HP:0002998

Patellar dislocation
tree view: Abnormality of the patella
tree view: HP_0030311
IAO_0000115: The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar dislocation occurs if the patella fully dislocates out of the groove.
has db xref: MSH:D031222
has db xref: SNOMEDCT_US:263029007
has db xref: UMLS:C1135812
has exact synonym: Dislocated kneecap
has exact synonym: Dislocated patellae
has exact synonym: Dislocation of patella
has OBO namespace: human_phenotype
id: HP:0002999
type: Class
subclass of: Abnormality of the patella
subclass of: HP_0030311
notation: HP:0002999

HP_0003000
IAO_0000231: IAO_0000227
IAO_0100001: HP_0006461
type: Class
deprecated: true
notation: HP:0003000

Glomus jugular tumor
tree view: Paraganglioma of head and neck
has db xref: MSH:D005925
has db xref: SNOMEDCT_US:127030001
has db xref: SNOMEDCT_US:32037004
has db xref: UMLS:C0017671
has exact synonym: Glomus jugulare tumor
has exact synonym: Glomus jugulare tumors
has OBO namespace: human_phenotype
id: HP:0003001
type: Class
subclass of: Paraganglioma of head and neck
notation: HP:0003001

Breast carcinoma
tree view: HP_0100013
IAO_0000115: The presence of a carcinoma of the breast.
has db xref: MSH:D001943
has db xref: NCIT:C2916
has db xref: SNOMEDCT_US:254838004
has db xref: UMLS:C0678222
has exact synonym: Breast cancer
has OBO namespace: human_phenotype
id: HP:0003002
type: Class
subclass of: HP_0100013
notation: HP:0003002

Colon cancer
tree view: HP_0100273
has alternative id: HP:0006718
has db xref: MSH:D003110
has db xref: SNOMEDCT_US:363406005
has db xref: UMLS:C0007102
has exact synonym: Colon cancer
has OBO namespace: human_phenotype
id: HP:0003003
type: Class
subclass of: HP_0100273
notation: HP:0003003

HP_0003004
IAO_0000231: IAO_0000227
IAO_0100001: Paraganglioma
type: Class
deprecated: true
notation: HP:0003004

Ganglioneuroma
tree view: HP_0030450
IAO_0000115: A benign neoplasm that usually arises from the sympathetic trunk in the mediastinum, representing a tumor of the sympathetic nerve fibers arising from neural crest cells.
has db xref: MSH:D005729
has db xref: SNOMEDCT_US:116371000119107
has db xref: SNOMEDCT_US:128919000
has db xref: SNOMEDCT_US:53801007
has db xref: UMLS:C0017075
has OBO namespace: human_phenotype
id: HP:0003005
type: Class
comment: Ganglioneuromas and ganglioneuroblastomas are tumors of the sympathetic nervous system. They originate from neural crest sympathogonia, which are completely undifferentiated cells of the sympathetic nervous system.
subclass of: HP_0030450
notation: HP:0003005

Neuroblastoma
tree view: Neuroblastic tumors
tree view: HP_0030067
IAO_0000115: Neuroblastoma is a solid tumor that originate in neural crest cells of the sympathetic nervous system. Most neuroblastomas originate in the abdomen, and most abdominal neuroblastomas originate in the adrenal gland. Neuroblastomas can also originate in the thorax, usually in the posterior mediastinum.
has alternative id: HP:0006738
has db xref: MSH:D009447
has db xref: NCIT:C3270
has db xref: SNOMEDCT_US:432328008
has db xref: SNOMEDCT_US:87364003
has db xref: UMLS:C0027819
has exact synonym: Cancer of early nerve cells
has OBO namespace: human_phenotype
id: HP:0003006
type: Class
subclass of: Neuroblastic tumors
subclass of: HP_0030067
notation: HP:0003006

HP_0003007
IAO_0000231: IAO_0000227
IAO_0100001: Hepatocellular carcinoma
type: Class
deprecated: true
notation: HP:0003007

HP_0003008
IAO_0000231: IAO_0000227
IAO_0100001: Neoplasm
type: Class
deprecated: true
notation: HP:0003008

Enhanced neurotoxicity of vincristine
tree view: Abnormal peripheral nervous system morphology
has db xref: UMLS:C4025661
has OBO namespace: human_phenotype
id: HP:0003009
type: Class
subclass of: Abnormal peripheral nervous system morphology
notation: HP:0003009

Prolonged bleeding time
tree view: Abnormal bleeding
IAO_0000115: Prolongation of the time taken for a standardized skin cut of fixed depth and length to stop bleeding.
has alternative id: HP:0008294
has alternative id: HP:0008337
has db xref: UMLS:C0151529
has exact synonym: Increased bleeding time
has exact synonym: Prolonged bleeding time
has OBO namespace: human_phenotype
id: HP:0003010
type: Class
comment: The bleeding time test measures the time taken for blood vessel constriction and platelet plug formation to occur. No clot is allowed to form, so that the arrest of bleeding depends exclusively on blood vessel constriction and platelet action. To perform the test, pressure is maintained throughout the test by inflating a sphygmomanometer cuff on the upper arm. The dorsal surface of the forearm is then cleaned, and the bleeding time device placed onto the skin and the trigger is depressed. At 30-second intervals, the flow of blood is blotted with filter paper. The time from puncture to cessation of bleeding is then recorded as the bleeding time. Normal values depend on the device used and other parameters, but are around 2 to 9 minutes.
subclass of: Abnormal bleeding
notation: HP:0003010

Abnormality of the musculature
tree view: Phenotypic abnormality
IAO_0000115: Abnormality originating in one or more muscles, i.e., of the set of muscles of body.
has alternative id: HP:0003197
has alternative id: HP:0003708
has db xref: UMLS:C4021745
has exact synonym: Muscular abnormality
has OBO namespace: human_phenotype
id: HP:0003011
type: Class
subclass of: Phenotypic abnormality
notation: HP:0003011

HP_0003012
IAO_0000231: IAO_0000227
IAO_0100001: HP_0100763
type: Class
deprecated: true
notation: HP:0003012

Bulging epiphyses
tree view: HP_0010580
IAO_0000115: A morphological abnormality of epiphyses whereby they are abnormally outwardly curving (protuberant).
has db xref: UMLS:C1833329
has exact synonym: Bulging end part of bone
has OBO namespace: human_phenotype
id: HP:0003013
type: Class
subclass of: HP_0010580
notation: HP:0003013

HP_0003014
IAO_0000231: IAO_0000227
IAO_0100001: HP_0005792
type: Class
deprecated: true
notation: HP:0003014

Flared metaphysis
tree view: Metaphyseal widening
IAO_0000115: The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones.
has alternative id: HP:0000945
has alternative id: HP:0003047
has alternative id: HP:0004994
has alternative id: HP:0005015
has alternative id: HP:0005095
has alternative id: HP:0200002
has db xref: UMLS:C1850135
has exact synonym: Flared wide portion of long bone
has exact synonym: Flared, widened metaphyses
has exact synonym: Metaphyseal flaring
has exact synonym: Metaphyseal flaring of long bones
has exact synonym: Metaphyseal splaying
has exact synonym: Metaphyses flared
has exact synonym: Splayed metaphyses
has exact synonym: marked metaphyseal flaring of long bones
has OBO namespace: human_phenotype
id: HP:0003015
type: Class
comment: Figure 11 of pmid:12853662 shows metaphyseal flaring.
subclass of: Metaphyseal widening
notation: HP:0003015

Metaphyseal widening
tree view: Abnormality of the metaphysis
IAO_0000115: Abnormal widening of the metaphyseal regions of long bones.
has alternative id: HP:0005074
has db xref: UMLS:C1849039
has exact synonym: Broad wide portion of long bone
has exact synonym: Wide metaphyses
has exact synonym: Widened long bone metaphyses
has exact synonym: Widened metaphyses
has OBO namespace: human_phenotype
id: HP:0003016
type: Class
subclass of: Abnormality of the metaphysis
notation: HP:0003016

HP_0003017
IAO_0000231: IAO_0000227
IAO_0100001: Metaphyseal irregularity
type: Class
deprecated: true
notation: HP:0003017

HP_0003018
IAO_0000231: IAO_0000227
IAO_0100001: HP_0010580
type: Class
deprecated: true
notation: HP:0003018

Abnormality of the wrist
tree view: HP_0009810
IAO_0000115: Abnormality of the wrist, the structure connecting the hand and the forearm.
has alternative id: HP:0001224
has db xref: UMLS:C4021744
has exact synonym: Abnormalities of the wrists
has exact synonym: Abnormality of the wrist
has OBO namespace: human_phenotype
id: HP:0003019
in subset: hposlim core
type: Class
subclass of: HP_0009810
notation: HP:0003019

Enlargement of the wrists
tree view: Abnormality of the wrist
has db xref: UMLS:C1838663
has exact synonym: Enlargement of the wrists
has OBO namespace: human_phenotype
id: HP:0003020
type: Class
subclass of: Abnormality of the wrist
notation: HP:0003020

Metaphyseal cupping
tree view: Abnormality of the metaphysis
IAO_0000115: Metaphyseal cupping refers to an inward bulging of the metaphyseal profile giving the metaphysis a cup-like appearance.
has db xref: UMLS:C1837082
has OBO namespace: human_phenotype
id: HP:0003021
type: Class
subclass of: Abnormality of the metaphysis
notation: HP:0003021

Hypoplasia of the ulna
tree view: HP_0006495
tree view: HP_0009821
tree view: HP_0040071
IAO_0000115: Underdevelopment of the ulna.
has alternative id: HP:0002998
has alternative id: HP:0005842
has alternative id: HP:0006388
has alternative id: HP:0006444
has db xref: MSH:C538069
has db xref: UMLS:C1860614
has db xref: UMLS:C1862132
has exact synonym: Hypoplastic ulna
has exact synonym: Short ulna
has exact synonym: Short ulnae
has exact synonym: Ulnar hypoplasia
has exact synonym: Underdeveloped inner large forearm bone
has exact synonym: Underdeveloped ulna
has OBO namespace: human_phenotype
id: HP:0003022
in subset: hposlim core
type: Class
subclass of: HP_0006495
subclass of: HP_0009821
subclass of: HP_0040071
notation: HP:0003022

Bowing of limbs due to multiple fractures
tree view: Increased susceptibility to fractures
IAO_0000115: Curvature of the shafts of the long bones due to multiple fractures.
has db xref: UMLS:C1850178
has exact synonym: Bowed limbs due to multiple fractures
has OBO namespace: human_phenotype
id: HP:0003023
type: Class
subclass of: Increased susceptibility to fractures
notation: HP:0003023

HP_0003024
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009821
type: Class
deprecated: true
notation: HP:0003024

Metaphyseal irregularity
tree view: Abnormality of the metaphysis
IAO_0000115: Irregularity of the normally smooth surface of the metaphyses.
has alternative id: HP:0003017
has alternative id: HP:0004995
has alternative id: HP:0005016
has alternative id: HP:0005032
has alternative id: HP:0005038
has alternative id: HP:0005058
has alternative id: HP:0005062
has alternative id: HP:0005065
has alternative id: HP:0005078
has alternative id: HP:0005896
has db xref: UMLS:C1838662
has exact synonym: Frayed, irregular metaphyses
has exact synonym: Frayed, irregular, metaphyses
has exact synonym: Irregular metaphyses
has exact synonym: Irregular wide portion of a long bone
has exact synonym: Metaphyseal fraying
has exact synonym: Metaphyseal irregularities
has OBO namespace: human_phenotype
id: HP:0003025
type: Class
subclass of: Abnormality of the metaphysis
notation: HP:0003025

Short long bone
tree view: HP_0011314
IAO_0000115: One or more abnormally short long bone.
has alternative id: HP:0000949
has alternative id: HP:0004983
has alternative id: HP:0004988
has alternative id: HP:0005000
has alternative id: HP:0005029
has alternative id: HP:0005044
has alternative id: HP:0005052
has alternative id: HP:0005077
has alternative id: HP:0005083
has alternative id: HP:0005647
has alternative id: HP:0005822
has alternative id: HP:0006382
has alternative id: HP:0006457
has alternative id: HP:0006472
has db xref: UMLS:C1854912
has exact synonym: Long bone shortening
has exact synonym: Short long bone
has exact synonym: Short tubular bones
has exact synonym: shortened long tubular bones
has OBO namespace: human_phenotype
id: HP:0003026
type: Class
comment: Long bones are also known as tubular bones.
subclass of: HP_0011314
notation: HP:0003026

Mesomelia
tree view: HP_0009826
IAO_0000115: Shortening of the middle parts of the limbs (forearm and lower leg) in relation to the upper and terminal segments.
has db xref: UMLS:C0549306
has exact synonym: Disproportionately short middle portion of limb
has exact synonym: Mesomelic limb shortening
has exact synonym: Mesomelic shortening of limbs
has exact synonym: Symmetric mesomelic limb shortness
has OBO namespace: human_phenotype
id: HP:0003027
type: Class
comment: Shortening of the limbs where the predominant shortness is in the middle bones.
subclass of: HP_0009826
notation: HP:0003027

Abnormality of the ankles
tree view: HP_0100491
has db xref: UMLS:C4025660
has exact synonym: Abnormality of the ankles
has OBO namespace: human_phenotype
id: HP:0003028
in subset: hposlim core
type: Class
subclass of: HP_0100491
notation: HP:0003028

Enlargement of the ankles
tree view: Abnormality of the ankles
has db xref: UMLS:C1838664
has exact synonym: Enlargement of the ankles
has OBO namespace: human_phenotype
id: HP:0003029
type: Class
subclass of: Abnormality of the ankles
notation: HP:0003029

HP_0003030
IAO_0000231: IAO_0000227
IAO_0100001: Micromelia
type: Class
deprecated: true
notation: HP:0003030

Ulnar bowing
tree view: Abnormality of the ulna
tree view: Bowed forearm bones
IAO_0000115: Bending of the diaphysis (shaft) of the ulna.
has alternative id: HP:0003983
has db xref: UMLS:C1865847
has exact synonym: Bowed ulna
has exact synonym: Curved ulna
has exact synonym: Curving of inner forearm bone
has OBO namespace: human_phenotype
id: HP:0003031
in subset: hposlim core
type: Class
comment: Ulnar bowing is usually in the convex posterior direction.
subclass of: Abnormality of the ulna
subclass of: Bowed forearm bones
notation: HP:0003031

HP_0003032
IAO_0000231: IAO_0000227
IAO_0100001: HP_0100864
type: Class
deprecated: true
notation: HP:0003032

HP_0003033
IAO_0000231: IAO_0000227
IAO_0100001: Joint stiffness
type: Class
deprecated: true
notation: HP:0003033

Diaphyseal sclerosis
tree view: Abnormal diaphysis morphology
tree view: HP_0006392
IAO_0000115: An elevation in bone density in one or more diaphyses. Sclerosis is normally detected on a radiograph as an area of increased opacity.
has alternative id: HP:0005611
has db xref: MSH:D003966
has db xref: SNOMEDCT_US:318761000119105
has db xref: SNOMEDCT_US:34643004
has db xref: UMLS:C0011989
has exact synonym: Craniodiaphyseal osteosclerosis
has exact synonym: Diaphyseal osteosclerosis
has exact synonym: Increased bone density in shaft of long bone
has OBO namespace: human_phenotype
id: HP:0003034
type: Class
subclass of: Abnormal diaphysis morphology
subclass of: HP_0006392
notation: HP:0003034

HP_0003035
IAO_0000231: IAO_0000227
IAO_0100001: Abnormality of finger
type: Class
deprecated: true
notation: HP:0003035

HP_0003036
IAO_0000231: IAO_0000227
IAO_0100001: Clubbing
type: Class
deprecated: true
notation: HP:0003036

Enlarged joints
tree view: Abnormal joint morphology
IAO_0000115: Increase in size of one or more joints.
has db xref: UMLS:C1859111
has exact synonym: Enlarged joints
has OBO namespace: human_phenotype
has related synonym: Prominent joints
id: HP:0003037
in subset: hposlim core
type: Class
subclass of: Abnormal joint morphology
notation: HP:0003037

Fibular hypoplasia
tree view: Short long bone
tree view: HP_0006492
IAO_0000115: Underdevelopment of the fibula.
has alternative id: HP:0002985
has alternative id: HP:0005887
has alternative id: HP:0006401
has db xref: UMLS:C1832119
has exact synonym: Hypoplastic fibula
has exact synonym: Short calf bone
has exact synonym: Short fibula
has exact synonym: Short fibulae
has OBO namespace: human_phenotype
id: HP:0003038
in subset: hposlim core
type: Class
subclass of: Short long bone
subclass of: HP_0006492
notation: HP:0003038

HP_0003039
IAO_0000231: IAO_0000227
IAO_0100001: HP_0010582
type: Class
deprecated: true
notation: HP:0003039

Arthropathy
tree view: Abnormal joint morphology
has db xref: MSH:D007592
has db xref: SNOMEDCT_US:399269003
has db xref: UMLS:C0022408
has exact synonym: Disease of the joints
has OBO namespace: human_phenotype
id: HP:0003040
type: Class
subclass of: Abnormal joint morphology
notation: HP:0003040

Humeroradial synostosis
tree view: Abnormality of the radius
tree view: Abnormality of the humerus
tree view: Synostosis involving the elbow
tree view: HP_0100744
IAO_0000115: An abnormal osseous union (fusion) between the radius and the humerus.
has alternative id: HP:0003936
has db xref: MSH:C535284
has db xref: SNOMEDCT_US:205329008
has db xref: UMLS:C1863360
has db xref: UMLS:C2930865
has exact synonym: Fusion of upper and lower arm bones
has exact synonym: Humeral radial synostosis
has exact synonym: Humeral-radial synostosis
has exact synonym: Radiohumeral synostosis of elbow
has exact synonym: Synostosis of radius and humerus
has OBO namespace: human_phenotype
id: HP:0003041
type: Class
subclass of: Abnormality of the radius
subclass of: Abnormality of the humerus
subclass of: Synostosis involving the elbow
subclass of: HP_0100744
notation: HP:0003041

Elbow dislocation
tree view: HP_0009811
tree view: HP_0030310
IAO_0000115: Dislocation of the distal humerus out of the elbow joint, where the radius, ulna, and humerus meet.
has alternative id: HP:0006411
has db xref: SNOMEDCT_US:125617002
has db xref: SNOMEDCT_US:417558002
has db xref: UMLS:C1403299
has db xref: UMLS:C1403321
has db xref: UMLS:C2720437
has exact synonym: Dislocations of the elbows
has exact synonym: Elbow dislocation
has exact synonym: Elbow dislocations
has exact synonym: Radiocapitellar dislocation
has exact synonym: Radiohumeral dislocation
has exact synonym: Ulnohumeral dislocation
has OBO namespace: human_phenotype
id: HP:0003042
type: Class
subclass of: HP_0009811
subclass of: HP_0030310
notation: HP:0003042

Abnormality of the shoulder
tree view: Abnormality of the thorax
tree view: HP_0011844
IAO_0000115: An abnormality of the shoulder, which is defined as the structures surrounding the shoulder joint where the humerus attaches to the scapula.
has db xref: UMLS:C4025659
has exact synonym: Abnormality of the shoulder
has OBO namespace: human_phenotype
id: HP:0003043
in subset: hposlim core
type: Class
subclass of: Abnormality of the thorax
subclass of: HP_0011844
notation: HP:0003043

Shoulder flexion contracture
tree view: Abnormality of the shoulder
tree view: HP_0100360
IAO_0000115: Chronic reduction in active and passive mobility of the shoulder joint due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement.
has db xref: SNOMEDCT_US:202265005
has db xref: UMLS:C0409336
has OBO namespace: human_phenotype
id: HP:0003044
type: Class
subclass of: Abnormality of the shoulder
subclass of: HP_0100360
notation: HP:0003044

Abnormality of the patella
tree view: Abnormality of the knee
IAO_0000115: Abnormality of the patella (knee cap).
has db xref: UMLS:C4021743
has exact synonym: Abnormal kneecap
has exact synonym: Patellar abnormality
has OBO namespace: human_phenotype
id: HP:0003045
in subset: hposlim core
type: Class
subclass of: Abnormality of the knee
notation: HP:0003045

HP_0003046
IAO_0000231: IAO_0000227
IAO_0100001: HP_0006443
type: Class
deprecated: true
notation: HP:0003046

HP_0003047
IAO_0000231: IAO_0000227
IAO_0100001: Flared metaphysis
type: Class
deprecated: true
notation: HP:0003047

Radial head subluxation
tree view: HP_0032153
IAO_0000115: Partial dislocation of the head of the radius.
has db xref: SNOMEDCT_US:417109008
has db xref: SNOMEDCT_US:95854004
has db xref: UMLS:C0149977
has exact synonym: Radial subluxation
has exact synonym: Radial-head subluxation
has OBO namespace: human_phenotype
id: HP:0003048
type: Class
subclass of: HP_0032153
notation: HP:0003048

Ulnar deviation of the wrist
tree view: Abnormality of the wrist
has db xref: SNOMEDCT_US:43689004
has db xref: UMLS:C0231678
has exact synonym: Ulnar deviation of wrists
has OBO namespace: human_phenotype
id: HP:0003049
type: Class
subclass of: Abnormality of the wrist
notation: HP:0003049

HP_0003050
IAO_0000231: IAO_0000227
IAO_0100001: Split hand
type: Class
deprecated: true
notation: HP:0003050

Enlarged metaphyses
tree view: Abnormality of the metaphysis
IAO_0000115: Abnormal increase in size of one or more metaphyses.
has alternative id: HP:0005018
has db xref: UMLS:C1855544
has exact synonym: Enlarged wide portion of a long bone
has OBO namespace: human_phenotype
id: HP:0003051
type: Class
subclass of: Abnormality of the metaphysis
notation: HP:0003051

HP_0003052
IAO_0000231: IAO_0000227
IAO_0100001: Genu varum
type: Class
deprecated: true
notation: HP:0003052

Epiphyseal deformities of tubular bones
tree view: HP_0005930
has db xref: UMLS:C1854786
has OBO namespace: human_phenotype
id: HP:0003053
type: Class
subclass of: HP_0005930
notation: HP:0003053

HP_0003054
IAO_0000231: IAO_0000227
IAO_0100001: HP_0006385
type: Class
deprecated: true
notation: HP:0003054

HP_0003055
IAO_0000231: IAO_0000227
IAO_0100001: HP_0010580
type: Class
deprecated: true
notation: HP:0003055

HP_0003056
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009824
type: Class
deprecated: true
notation: HP:0003056

Tetraamelia
tree view: HP_0009827
IAO_0000115: Amelia of all four limbs.
has db xref: MSH:C536498
has db xref: SNOMEDCT_US:702313004
has db xref: UMLS:C2931216
has exact synonym: Tetra-amelia
has OBO namespace: human_phenotype
id: HP:0003057
type: Class
subclass of: HP_0009827
notation: HP:0003057

HP_0003058
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009826
type: Class
deprecated: true
notation: HP:0003058

Abnormality of the radioulnar joints
tree view: Abnormality of the forearm
tree view: HP_0005262
has db xref: UMLS:C4025658
has OBO namespace: human_phenotype
id: HP:0003059
type: Class
subclass of: Abnormality of the forearm
subclass of: HP_0005262
notation: HP:0003059

HP_0003060
IAO_0000231: IAO_0000227
IAO_0100001: Slender long bone
type: Class
deprecated: true
notation: HP:0003060

HP_0003061
IAO_0000231: IAO_0000227
IAO_0100001: Slender long bone
type: Class
deprecated: true
notation: HP:0003061

HP_0003062
IAO_0000231: IAO_0000227
IAO_0100001: Split foot
type: Class
deprecated: true
notation: HP:0003062

Abnormality of the humerus
tree view: Abnormality of the upper arm
tree view: HP_0040070
IAO_0000115: An abnormality of the humerus (i.e., upper arm bone).
has alternative id: HP:0002988
has db xref: UMLS:C4021742
has exact synonym: Abnormality of the humeri
has OBO namespace: human_phenotype
id: HP:0003063
type: Class
subclass of: Abnormality of the upper arm
subclass of: HP_0040070
notation: HP:0003063

HP_0003064
IAO_0000231: IAO_0000227
IAO_0100001: HP_0005792
type: Class
deprecated: true
notation: HP:0003064

Patellar hypoplasia
tree view: HP_0006498
IAO_0000115: Underdevelopment of the patella.
has alternative id: HP:0005020
has db xref: UMLS:C1840068
has exact synonym: Hypoplastic patellae
has exact synonym: Small kneecap
has exact synonym: Small patella
has exact synonym: Small patellae
has exact synonym: Underdeveloped kneecap
has OBO namespace: human_phenotype
id: HP:0003065
type: Class
subclass of: HP_0006498
notation: HP:0003065

Limited knee extension
tree view: Abnormality of the knee
has db xref: UMLS:C1844690
has exact synonym: Limited knee extension
has OBO namespace: human_phenotype
id: HP:0003066
type: Class
subclass of: Abnormality of the knee
notation: HP:0003066

Madelung deformity
tree view: Abnormality of the wrist
IAO_0000115: An anomaly related to partial closure, or failure of development of the ulnar side of the distal radial growth plate, which results in an arrest of epiphyseal growth of the medial and volar portions of the distal radius. This leads to shortening of the radius and relative overgrowth of the ulna.
has db xref: MSH:C562398
has db xref: SNOMEDCT_US:4530000
has db xref: UMLS:C0152441
has exact synonym: Madelung wrist deformity
has OBO namespace: human_phenotype
id: HP:0003067
in subset: hposlim core
type: Class
subclass of: Abnormality of the wrist
notation: HP:0003067

Madelung-like forearm deformities
tree view: Abnormality of the radius
has db xref: UMLS:C1851419
has OBO namespace: human_phenotype
id: HP:0003068
type: Class
subclass of: Abnormality of the radius
notation: HP:0003068

HP_0003069
IAO_0000231: IAO_0000227
IAO_0100001: Short middle phalanx of the 5th finger
type: Class
deprecated: true
notation: HP:0003069

Elbow ankylosis
tree view: HP_0009811
tree view: HP_0031013
has db xref: SNOMEDCT_US:202307002
has db xref: UMLS:C0409477
has OBO namespace: human_phenotype
id: HP:0003070
type: Class
subclass of: HP_0009811
subclass of: HP_0031013
notation: HP:0003070

Flattened epiphysis
tree view: HP_0005930
IAO_0000115: Abnormal flatness (decreased height) of epiphyses.
has alternative id: HP:0004982
has alternative id: HP:0005051
has alternative id: HP:0005076
has alternative id: HP:0005080
has db xref: UMLS:C1857527
has exact synonym: Flat end part of bone
has exact synonym: Flat epiphyses
has OBO namespace: human_phenotype
id: HP:0003071
type: Class
subclass of: HP_0005930
notation: HP:0003071

Hypercalcemia
tree view: Abnormal circulating calcium concentration
IAO_0000115: An abnormally increased calcium concentration in the blood.
has db xref: MSH:D006934
has db xref: SNOMEDCT_US:166702002
has db xref: SNOMEDCT_US:66931009
has db xref: UMLS:C0020437
has exact synonym: High blood calcium levels
has exact synonym: Hypercalcaemia
has exact synonym: Increased calcium in blood
has OBO namespace: human_phenotype
id: HP:0003072
type: Class
subclass of: Abnormal circulating calcium concentration
notation: HP:0003072

Hypoalbuminemia
tree view: HP_0012116
IAO_0000115: Reduction in the concentration of albumin in the blood.
has broad synonym: Low albumin
has db xref: MSH:D034141
has db xref: SNOMEDCT_US:119247004
has db xref: UMLS:C0239981
has exact synonym: Hypoalbuminaemia
has exact synonym: Low blood albumin
has OBO namespace: human_phenotype
id: HP:0003073
type: Class
subclass of: HP_0012116
notation: HP:0003073

Hyperglycemia
tree view: HP_0011015
IAO_0000115: An increased concentration of glucose in the blood.
has db xref: MSH:D006943
has db xref: SNOMEDCT_US:237598005
has db xref: SNOMEDCT_US:80394007
has db xref: UMLS:C0020456
has exact synonym: High blood glucose
has exact synonym: High blood sugar
has OBO namespace: human_phenotype
id: HP:0003074
type: Class
subclass of: HP_0011015
notation: HP:0003074

Hypoproteinemia
tree view: HP_0010876
IAO_0000115: A decreased concentration of protein in the blood.
has db xref: MSH:D007019
has db xref: SNOMEDCT_US:8900005
has db xref: UMLS:C0020639
has exact synonym: Decreased protein levels in blood
has OBO namespace: human_phenotype
id: HP:0003075
type: Class
subclass of: HP_0010876
notation: HP:0003075

Glycosuria
tree view: HP_0011016
IAO_0000115: An increased concentration of glucose in the urine.
has alternative id: HP:0003122
has db xref: MSH:D006029
has db xref: SNOMEDCT_US:45154002
has db xref: UMLS:C0017979
has exact synonym: Glucose in urine
has exact synonym: Glucosuria
has OBO namespace: human_phenotype
id: HP:0003076
type: Class
comment: Glycosuria, the excretion of abnormal amounts of glucose in the urine, generally results in osmotic diuresis.
subclass of: HP_0011016
notation: HP:0003076

Hyperlipidemia
tree view: Abnormal circulating lipid concentration
IAO_0000115: An elevated lipid concentration in the blood.
has alternative id: HP:0008159
has alternative id: HP:0008356
has db xref: MSH:D006949
has db xref: SNOMEDCT_US:55822004
has db xref: UMLS:C0020473
has exact synonym: Elevated lipids in blood
has OBO namespace: human_phenotype
id: HP:0003077
type: Class
comment: Hyperlipidemia is an elevation of the blood levels of lipids including primarily cholesterol, phospholipids and triglycerides and cholesterol esters. The lipids are transported on lipoproteins some of which are commonly used for clinical measurements, including chylomicrons, very-low density lipoproteins (VLDL), intermediate-density lipoproteins (IDL), low-density lipoproteins, and high-density lipoproteins (HDL).
subclass of: Abnormal circulating lipid concentration
notation: HP:0003077

HP_0003078
IAO_0000231: IAO_0000227
IAO_0100001: Elevated serum creatine kinase
type: Class
deprecated: true
notation: HP:0003078

Defective DNA repair after ultraviolet radiation damage
tree view: Abnormality of DNA repair
has db xref: UMLS:C1968564
has OBO namespace: human_phenotype
id: HP:0003079
type: Class
subclass of: Abnormality of DNA repair
notation: HP:0003079

Hydroxyprolinuria
tree view: Aminoaciduria
tree view: HP_0010907
IAO_0000115: An increased concentration of 4-hydroxy-L-proline the urine.
has db xref: UMLS:C0948585
has exact synonym: Elevated urinary hydroxyproline
has OBO namespace: human_phenotype
id: HP:0003080
type: Class
subclass of: Aminoaciduria
subclass of: HP_0010907
notation: HP:0003080

Increased urinary potassium
tree view: HP_0012598
IAO_0000115: An increased concentration of potassium(1+) in the urine.
has db xref: UMLS:C1846351
has exact synonym: Hyperkaliuresis
has exact synonym: Increased urinary K
has exact synonym: Increased urinary potassium
has OBO namespace: human_phenotype
id: HP:0003081
type: Class
subclass of: HP_0012598
notation: HP:0003081

HP_0003082
IAO_0000231: IAO_0000227
IAO_0100001: Hypertriglyceridemia
type: Class
deprecated: true
notation: HP:0003082

Dislocated radial head
tree view: Elbow dislocation
tree view: Abnormality of the radial head
tree view: HP_0100744
IAO_0000115: A dislocation of the head of the radius from its socket in the elbow joint.
has alternative id: HP:0002975
has alternative id: HP:0005673
has alternative id: HP:0005836
has db xref: SNOMEDCT_US:9634000
has db xref: UMLS:C0265563
has exact synonym: Congenital radial head dislocation
has exact synonym: Dislocated radius
has exact synonym: Dislocation of radial head
has exact synonym: Dislocation of the radial head
has exact synonym: Radial dislocation
has exact synonym: Radial head dislocation
has exact synonym: Radial head dislocation/subluxation
has OBO namespace: human_phenotype
has related synonym: Dislocated radial heads
id: HP:0003083
type: Class
subclass of: Elbow dislocation
subclass of: Abnormality of the radial head
subclass of: HP_0100744
notation: HP:0003083

Fractures of the long bones
tree view: Recurrent fractures
tree view: HP_0011314
IAO_0000115: An increased tendency to fractures of the long bones (Mainly, the femur, tibia, fibula,humerus, radius, and ulna).
has alternative id: HP:0005847
has db xref: UMLS:C0240231
has exact synonym: Increased long bone fracture rate
has OBO namespace: human_phenotype
id: HP:0003084
type: Class
subclass of: Recurrent fractures
subclass of: HP_0011314
notation: HP:0003084

Long fibula
tree view: Abnormality of fibula morphology
IAO_0000115: Disproportionately long fibulae.
has db xref: UMLS:C1848109
has exact synonym: Disproportionately long fibula
has exact synonym: Long calf bone
has exact synonym: Long fibula
has OBO namespace: human_phenotype
id: HP:0003085
in subset: hposlim core
type: Class
subclass of: Abnormality of fibula morphology
notation: HP:0003085

Acromesomelia
tree view: Mesomelia
IAO_0000115: Small hands and feet.
has db xref: UMLS:C1864365
has OBO namespace: human_phenotype
id: HP:0003086
type: Class
subclass of: Mesomelia
notation: HP:0003086

HP_0003087
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009816
type: Class
deprecated: true
notation: HP:0003087

Premature osteoarthritis
tree view: Osteoarthritis
has db xref: UMLS:C1835121
has exact synonym: Premature arthritis
has exact synonym: Premature osteoarthritis
has OBO namespace: human_phenotype
id: HP:0003088
type: Class
subclass of: Osteoarthritis
notation: HP:0003088

Hamstring contractures
tree view: HP_0005750
has db xref: SNOMEDCT_US:203074005
has db xref: UMLS:C0410266
has exact synonym: Hamstring contractures
has OBO namespace: human_phenotype
id: HP:0003089
type: Class
subclass of: HP_0005750
notation: HP:0003089

Hypoplasia of the capital femoral epiphysis
tree view: HP_0005003
IAO_0000115: Underdevelopment of the proximal epiphysis of the femur.
has alternative id: HP:0003374
has alternative id: HP:0008791
has alternative id: HP:0008792
has db xref: UMLS:C1839254
has exact synonym: Small capital femoral epiphyses
has exact synonym: Small femoral capital epiphyses
has exact synonym: Small innermost thighbone end part
has exact synonym: Small proximal femoral epiphyses
has exact synonym: Underdevelopment of the innermost thighbone end part
has OBO namespace: human_phenotype
id: HP:0003090
type: Class
subclass of: HP_0005003
notation: HP:0003090

Trophic limb changes
tree view: HP_0010834
IAO_0000115: Trophic changes occurring in a limb.
has db xref: UMLS:C4025657
has OBO namespace: human_phenotype
id: HP:0003091
type: Class
subclass of: HP_0010834
notation: HP:0003091

HP_0003092
IAO_0000231: IAO_0000227
IAO_0100001: HP_0010743
type: Class
deprecated: true
notation: HP:0003092

Limited hip extension
tree view: HP_0008800
IAO_0000115: Limitation of the extension of the hip, i.e., decreased ability to straighten the hip joint and thereby increase the angle between torso and thigh; moving the thigh or top of the pelvis backward.
has alternative id: HP:0008810
has db xref: UMLS:C3553368
has exact synonym: Limited hip extension
has exact synonym: Restricted hip extension
has OBO namespace: human_phenotype
id: HP:0003093
type: Class
comment: Reduced ability to straighten out the femur.
subclass of: HP_0008800
notation: HP:0003093

HP_0003094
IAO_0000231: IAO_0000227
IAO_0100001: HP_0010055
type: Class
deprecated: true
notation: HP:0003094

Septic arthritis
tree view: Arthritis
created by: ORCID:0000-0002-5316-1399
has broad synonym: Infected joint
has db xref: MSH:D001170
has db xref: SNOMEDCT_US:372939007
has db xref: SNOMEDCT_US:396234004
has db xref: UMLS:C0003869
has db xref: UMLS:C4280547
has OBO namespace: human_phenotype
id: HP:0003095
type: Class
subclass of: Arthritis
notation: HP:0003095

HP_0003096
IAO_0000231: IAO_0000227
IAO_0100001: Slender long bone
type: Class
deprecated: true
notation: HP:0003096

Short femur
tree view: Short long bone
tree view: HP_0005613
IAO_0000115: An abnormal shortening of the femur.
has alternative id: HP:0009749
has db xref: SNOMEDCT_US:93255008
has db xref: UMLS:C0345375
has exact synonym: Femoral hypoplasia
has exact synonym: Hypoplasia of the femora
has exact synonym: Short femurs
has exact synonym: Short thighbone
has OBO namespace: human_phenotype
id: HP:0003097
in subset: hposlim core
type: Class
subclass of: Short long bone
subclass of: HP_0005613
notation: HP:0003097

HP_0003098
IAO_0000231: IAO_0000227
IAO_0100001: HP_0005922
type: Class
deprecated: true
notation: HP:0003098

Fibular overgrowth
tree view: Abnormality of fibula morphology
IAO_0000115: Relatively increased growth of the fibula compared to that of the tibia.
has db xref: UMLS:C1864298
has exact synonym: Overgrowth of calf bone
has OBO namespace: human_phenotype
id: HP:0003099
type: Class
subclass of: Abnormality of fibula morphology
notation: HP:0003099

Slender long bone
tree view: HP_0011314
IAO_0000115: Reduced diameter of a long bone.
has alternative id: HP:0003060
has alternative id: HP:0003061
has alternative id: HP:0003096
has alternative id: HP:0005064
has db xref: UMLS:C1833144
has exact synonym: Gracile long bones
has exact synonym: Long bones slender
has exact synonym: Slender long bone
has exact synonym: Slender, gracile long tubular bones
has exact synonym: Thin long bones
has exact synonym: Thin, gracile long bones
has OBO namespace: human_phenotype
has related synonym: Slender long bones
has related synonym: Thin gracile long bones
id: HP:0003100
type: Class
subclass of: HP_0011314
notation: HP:0003100

HP_0003101
IAO_0000231: IAO_0000227
IAO_0100001: Limitation of joint mobility
type: Class
deprecated: true
notation: HP:0003101

Increased carrying angle
tree view: HP_0009811
IAO_0000115: An abnormal increase in the carrying angle, which is the angle he long axis of the extended forearm as it lies lateral to the long axis of the arm.
has db xref: UMLS:C1855478
has OBO namespace: human_phenotype
id: HP:0003102
type: Class
comment: Anatomically, the carrying angle in human adults is approximately 10 degrees in men and 13 degrees in women. Increasing the carrying angle may lead to elbow instability and pain during exercise or in throwing activities of sports, may reduce function of elbow flexion, predispose to risk of elbow dislocation, and increase evidence of elbow fracture when falling on the outstretched hand and fracture of the distal humeral epiphysis.
subclass of: HP_0009811
notation: HP:0003102

Abnormal cortical bone morphology
tree view: Abnormal bone structure
IAO_0000115: An abnormality of compact bone (also known as cortical bone), which forms the dense surface of bones.
has db xref: UMLS:C4021741
has exact synonym: Abnormal compact bone morphology
has exact synonym: Abnormality of cortical bone
has OBO namespace: human_phenotype
id: HP:0003103
type: Class
subclass of: Abnormal bone structure
notation: HP:0003103

HP_0003104
IAO_0000231: IAO_0000227
IAO_0100001: Thin bony cortex
type: Class
deprecated: true
notation: HP:0003104

Protuberances at ends of long bones
tree view: HP_0011314
IAO_0000115: The presence of multiple protuberances (bulges, or knobs) at the ends of the long bones.
has db xref: UMLS:C1851418
has exact synonym: Protuberances at ends of long bones
has OBO namespace: human_phenotype
id: HP:0003105
type: Class
subclass of: HP_0011314
notation: HP:0003105

Subperiosteal bone resorption
tree view: Abnormality of limb bone morphology
IAO_0000115: Loss of bone mass occurring beneath the periosteum (the periosteum is the connective-tissue membrane that surrounds all bones except at the articular surfaces). This process may create a serrated and lace-like appearance in periosteal cortical bone.
has db xref: UMLS:C1848541
has exact synonym: Subperiosteal erosions
has OBO namespace: human_phenotype
id: HP:0003106
type: Class
subclass of: Abnormality of limb bone morphology
notation: HP:0003106

Abnormal circulating cholesterol concentration
tree view: Abnormal circulating lipid concentration
IAO_0000115: Any deviation from the normal concentration of cholesterol in the blood circulation.
created by: peter
creation date: 2008-03-17T01:02:00Z
has alternative id: HP:0003464
has db xref: UMLS:C4025656
has exact synonym: Abnormal cholesterol homeostasis
has exact synonym: Abnormality of cholesterol metabolism
has OBO namespace: human_phenotype
id: HP:0003107
type: Class
subclass of: Abnormal circulating lipid concentration
notation: HP:0003107

Hyperglycinuria
tree view: Aminoaciduria
IAO_0000115: An increased concentration of glycine in the urine.
has alternative id: HP:0002931
has db xref: MSH:C563009
has db xref: SNOMEDCT_US:236477004
has db xref: UMLS:C0341706
has db xref: UMLS:C0543541
has exact synonym: Glycinuria
has exact synonym: High urine glycine levels
has OBO namespace: human_phenotype
id: HP:0003108
type: Class
comment: Normal urinary glycine total (free and combined form) excretion is around 450 mg per 24 hours.
subclass of: Aminoaciduria
notation: HP:0003108

Hyperphosphaturia
tree view: HP_0012599
IAO_0000115: An increased excretion of phosphates in the urine.
has alternative id: HP:0003266
has db xref: SNOMEDCT_US:22450000
has db xref: UMLS:C0268079
has db xref: UMLS:C0948023
has exact synonym: High urine phosphate levels
has exact synonym: Phosphaturia
has OBO namespace: human_phenotype
id: HP:0003109
type: Class
subclass of: HP_0012599
notation: HP:0003109

Abnormality of urine homeostasis
tree view: Abnormality of metabolism/homeostasis
tree view: HP_0011277
IAO_0000115: An abnormality of the composition of urine or the levels of its components.
has alternative id: HP:0011865
has alternative id: HP:0011866
has db xref: UMLS:C4025655
has exact synonym: Pee issues
has exact synonym: Urine issues
has OBO namespace: human_phenotype
id: HP:0003110
type: Class
subclass of: Abnormality of metabolism/homeostasis
subclass of: HP_0011277
notation: HP:0003110

Abnormal blood ion concentration
tree view: HP_0032180
IAO_0000115: Abnormality of the homeostasis (concentration) of a monoatomic ion.
has alternative id: HP:0003253
has db xref: SNOMEDCT_US:237840007
has db xref: UMLS:C1704431
has db xref: UMLS:C4025654
has exact synonym: Abnormality of ion homeostasis
has exact synonym: Electrolyte disorders
has OBO namespace: human_phenotype
id: HP:0003111
type: Class
subclass of: HP_0032180
notation: HP:0003111

Abnormality of serum amino acid level
tree view: Abnormal circulating carboxylic acid concentration
IAO_0000115: The presence of an abnormal decrease or increase of one or more amino acids in the blood circulation.
has db xref: UMLS:C4025653
has exact synonym: Abnormality of serum amino acid levels
has OBO namespace: human_phenotype
id: HP:0003112
type: Class
subclass of: Abnormal circulating carboxylic acid concentration
notation: HP:0003112

Hypochloremia
tree view: HP_0011422
IAO_0000115: An abnormally decreased chloride concentration in the blood.
has db xref: SNOMEDCT_US:10399008
has db xref: UMLS:C0085680
has db xref: UMLS:C0595901
has exact synonym: Low blood chloride levels
has OBO namespace: human_phenotype
id: HP:0003113
type: Class
subclass of: HP_0011422
notation: HP:0003113

obsolete Abnormal cardiological findings
IAO_0100001: HP:0001626
has OBO namespace: human_phenotype
id: HP:0003114
type: Class
deprecated: true
notation: HP:0003114

Abnormal EKG
tree view: HP_0030956
tree view: HP_0500015
IAO_0000115: Abnormal rhythm of the heart.
has db xref: SNOMEDCT_US:102594003
has db xref: UMLS:C0522055
has exact synonym: Abnormal ECG
has exact synonym: Abnormal EKG
has exact synonym: Abnormal electrocardiogram
has exact synonym: EKG abnormality
has OBO namespace: human_phenotype
id: HP:0003115
type: Class
subclass of: HP_0030956
subclass of: HP_0500015
notation: HP:0003115

Abnormal echocardiogram
tree view: HP_0011025
tree view: HP_0500015
IAO_0000115: An abnormality detectable by sonography of the heart (echocardiography).
has db xref: SNOMEDCT_US:169241000
has db xref: UMLS:C0476369
has exact synonym: Abnormal echocardiogram
has exact synonym: Abnormal echocardiography
has OBO namespace: human_phenotype
id: HP:0003116
type: Class
comment: Note that while structural heart anomalies can cause abnormal echocardiograpy findings, structural abnormalities are detectable by multiple imaging modalities and should be coded using terms from the hierarchy under 'Abnormality of cardiac morphology' (HP:0001627).
subclass of: HP_0011025
subclass of: HP_0500015
notation: HP:0003116

Abnormal circulating hormone level
tree view: Abnormality of the endocrine system
IAO_0000115: An abnormal concentration of a hormone in the blood.
has db xref: UMLS:C4025652
has exact synonym: Abnormality of circulating hormone level
has OBO namespace: human_phenotype
id: HP:0003117
type: Class
subclass of: Abnormality of the endocrine system
notation: HP:0003117

Increased circulating cortisol level
tree view: Adrenal overactivity
tree view: HP_0011731
IAO_0000115: Overproduction of the hormone of cortisol by the adrenal cortex, resulting in a characteristic combination of clinical symptoms termed Cushing syndrome, with truncal obesity, a round, full face, striae atrophicae and acne, muscle weakness, and other features.
has alternative id: HP:0000850
has alternative id: HP:0001578
has alternative id: HP:0004316
has db xref: MSH:D000308
has db xref: SNOMEDCT_US:237735008
has db xref: SNOMEDCT_US:275437005
has db xref: SNOMEDCT_US:47270006
has db xref: UMLS:C0001622
has db xref: UMLS:C0342443
has db xref: UMLS:C4025651
has exact synonym: Cushing syndrome
has exact synonym: Hypercortisolism
has exact synonym: Increased circulating cortisol level
has exact synonym: Increased cortisol production
has OBO namespace: human_phenotype
id: HP:0003118
type: Class
subclass of: Adrenal overactivity
subclass of: HP_0011731
notation: HP:0003118

Abnormal circulating lipid concentration
tree view: HP_0032180
IAO_0000115: An abnormality in the of lipid metabolism.
has alternative id: HP:0003611
has db xref: MSH:D050171
has db xref: SNOMEDCT_US:370992007
has db xref: UMLS:C0242339
has db xref: UMLS:C4025650
has OBO namespace: human_phenotype
has related synonym: Dyslipidemia
id: HP:0003119
type: Class
comment: According to CHEBI:18059 'Lipids' is a loosely defined term for substances of biological origin that are soluble in nonpolar solvents. They consist of saponifiable lipids, such as glycerides (fats and oils) and phospholipids, as well as nonsaponifiable lipids, principally steroids.
subclass of: HP_0032180
notation: HP:0003119

HP_0003120
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009836
type: Class
deprecated: true
notation: HP:0003120

Limb joint contracture
tree view: Flexion contracture
IAO_0000115: A contrqacture (chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin) that prevent normal movement of one or more joints of the limbs.
has alternative id: HP:0005631
has alternative id: HP:0005839
has db xref: UMLS:C1969879
has exact synonym: Limb contractures
has OBO namespace: human_phenotype
id: HP:0003121
type: Class
subclass of: Flexion contracture
notation: HP:0003121

HP_0003122
IAO_0000231: IAO_0000227
IAO_0100001: Glycosuria
type: Class
deprecated: true
notation: HP:0003122

HP_0003123
IAO_0000231: IAO_0000227
IAO_0100001: Methylmalonic acidemia
type: Class
deprecated: true
notation: HP:0003123

Hypercholesterolemia
tree view: Abnormal circulating cholesterol concentration
IAO_0000115: An increased concentration of cholesterol in the blood.
has alternative id: HP:0008154
has alternative id: HP:0008173
has alternative id: HP:0008359
has broad synonym: High cholesterol
has db xref: MSH:D006937
has db xref: SNOMEDCT_US:13644009
has db xref: SNOMEDCT_US:166830008
has db xref: UMLS:C0020443
has db xref: UMLS:C0595929
has exact synonym: Elevated serum cholesterol
has exact synonym: Elevated total cholesterol
has exact synonym: Increased total cholesterol
has OBO namespace: human_phenotype
id: HP:0003124
type: Class
subclass of: Abnormal circulating cholesterol concentration
notation: HP:0003124

Reduced factor VIII activity
tree view: HP_0030976
IAO_0000115: Reduced activity of coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X.
has alternative id: HP:0008349
has alternative id: HP:0008355
has db xref: MSH:D006467
has db xref: SNOMEDCT_US:234440005
has db xref: UMLS:C3494187
has db xref: UMLS:C4025649
has OBO namespace: human_phenotype
has related synonym: Factor VIII deficiency
id: HP:0003125
type: Class
subclass of: HP_0030976
notation: HP:0003125

Low-molecular-weight proteinuria
tree view: Proteinuria
IAO_0000115: Excretion in urine of proteins of a size smaller than albumin (molecular weight 69 kD).
has db xref: UMLS:C1839606
has exact synonym: Tubular proteinuria
has OBO namespace: human_phenotype
id: HP:0003126
type: Class
subclass of: Proteinuria
notation: HP:0003126

Hypocalciuria
tree view: HP_0011280
IAO_0000115: An abnormally decreased calcium concentration in the urine.
has db xref: SNOMEDCT_US:86353007
has db xref: UMLS:C0020599
has exact synonym: Low urine calcium levels
has OBO namespace: human_phenotype
id: HP:0003127
type: Class
subclass of: HP_0011280
notation: HP:0003127

Lactic acidosis
tree view: Acidosis
IAO_0000115: An abnormal buildup of lactic acid in the body, leading to acidification of the blood and other bodily fluids.
has alternative id: HP:0003255
has alternative id: HP:0005960
has db xref: MSH:D000140
has db xref: SNOMEDCT_US:190882007
has db xref: SNOMEDCT_US:91273001
has db xref: UMLS:C0001125
has db xref: UMLS:C0347959
has exact synonym: Hyperlacticacidemia
has exact synonym: Increased lactate in body
has exact synonym: Lactic acidemia
has exact synonym: Lacticacidemia
has exact synonym: Lacticacidosis
has OBO namespace: human_phenotype
id: HP:0003128
type: Class
comment: Note that the term acidemia is used to describe the state of low pH in the blood, whereas acidosis is used to describe the processes that lead to acidemia. In medical jargon, however, the two terms are used interchangeably.
subclass of: Acidosis
notation: HP:0003128

HP_0003129
IAO_0000231: IAO_0000227
IAO_0100001: Abnormal nervous system electrophysiology
type: Class
deprecated: true
notation: HP:0003129

Abnormal peripheral myelination
tree view: Abnormal peripheral nervous system morphology
tree view: HP_0012447
IAO_0000115: An abnormality of the myelination of motor and sensory peripheral nerves. These are axons for motor nerves and dendrites for sensory nerves in the strict anatomic sense.
has alternative id: HP:0003408
has db xref: UMLS:C4025648
has OBO namespace: human_phenotype
id: HP:0003130
type: Class
comment: This finding may be observed upon biopsy of the sural nerve. Myelination, i.e., the presence of a segmented lipid-rich sheath (myelin), enables faster and more energetically efficient conduction of electrical impulses. The sheath is formed by the cell membranes of Schwann cells in the peripheral nervous system (GO:0022011).
subclass of: Abnormal peripheral nervous system morphology
subclass of: HP_0012447
notation: HP:0003130

Cystinuria
tree view: Aminoaciduria
IAO_0000115: An increased concentration of cystine in the urine.
has db xref: MSH:D003555
has db xref: SNOMEDCT_US:85020001
has db xref: UMLS:C0010691
has exact synonym: High urine cystine levels
has OBO namespace: human_phenotype
id: HP:0003131
type: Class
comment: Cystine is a sulfur-containing amino acid.
subclass of: Aminoaciduria
notation: HP:0003131

HP_0003132
IAO_0000231: IAO_0000227
IAO_0100001: Neurofibrillary tangles
type: Class
deprecated: true
notation: HP:0003132

Abnormality of the spinocerebellar tracts
tree view: Abnormality of the spinal cord
IAO_0000115: An abnormality of the spinocerebellar tracts, a set of axonal fibers originating in the spinal cord and terminating in the ipsilateral cerebellum. The spinocerebellar tract convey information to the cerebellum about limb and joint position (proprioception). They comprise the ventral spinocerebellar tract, the anterior spinocerebellar tract, and the posterior spinocerebellar tract.
has db xref: UMLS:C4025647
has OBO namespace: human_phenotype
id: HP:0003133
type: Class
subclass of: Abnormality of the spinal cord
notation: HP:0003133

Abnormality of peripheral nerve conduction
tree view: HP_0030177
tree view: HP_0045010
IAO_0000115: An abnormality of the conduction of electrical impulses by peripheral (motor or sensory) nerves. This finding is elicited by a nerve conduction study (NCS).
has alternative id: HP:0006832
has alternative id: HP:0007186
has db xref: UMLS:C4020690
has exact synonym: Sensory and motor nerve conduction abnormalities
has OBO namespace: human_phenotype
has related synonym: Abnormal peripheral nerve transmission
id: HP:0003134
type: Class
comment: A nerve conduction study (NCS) is commonly conducted together with electromyography in order to evaluate muscle disorders. For the NCS, dermal electrodes are placed at intervals over the nerve to be examined, and a low-intensity current is introducted to generate action potentials. The velocity of the action potential is related to the diameter of the nerve fiber and the presence of a myelin sheath. Diseases of the myelin sheath characteristically reduce the nerve conduction velocity (NCV). The amplitude of the response is also measured.
subclass of: HP_0030177
subclass of: HP_0045010
notation: HP:0003134

HP_0003135
IAO_0000231: IAO_0000227
IAO_0100001: Abnormality of blood and blood-forming tissues
type: Class
deprecated: true
notation: HP:0003135

HP_0003136
IAO_0000231: IAO_0000227
IAO_0100001: Anemia
type: Class
deprecated: true
notation: HP:0003136

Prolinuria
tree view: Aminoaciduria
IAO_0000115: An increased concentration of proline in the urine.
has db xref: SNOMEDCT_US:53124003
has db xref: UMLS:C0268534
has OBO namespace: human_phenotype
id: HP:0003137
type: Class
comment: Normal urinary proline total (free and combined form) excretion is around 40 mg per 24 hours.
subclass of: Aminoaciduria
notation: HP:0003137

Increased blood urea nitrogen
tree view: Azotemia
tree view: HP_0031970
IAO_0000115: An increased amount of nitrogen in the form of urea in the blood.
has db xref: UMLS:C0151539
has exact synonym: Increased BUN
has exact synonym: Increased blood urea nitrogen
has OBO namespace: human_phenotype
id: HP:0003138
type: Class
subclass of: Azotemia
subclass of: HP_0031970
notation: HP:0003138

Panhypogammaglobulinemia
tree view: Decreased antibody level in blood
IAO_0000115: A reduction in the circulating levels of all the major classes of immunoglobulin. is characterized by profound decreases in all classes of immunoglobulin with an absence of circulating B lymphocytes.
has db xref: UMLS:C1328587
has exact synonym: Panypogammaglobulinemia
has OBO namespace: human_phenotype
id: HP:0003139
type: Class
subclass of: Decreased antibody level in blood
notation: HP:0003139

T-wave inversion in the right precordial leads
tree view: HP_0010872
has db xref: UMLS:C4025646
has OBO namespace: human_phenotype
id: HP:0003140
type: Class
subclass of: HP_0010872
notation: HP:0003140

Increased LDL cholesterol concentration
tree view: HP_0010980
tree view: HP_0031886
IAO_0000115: An elevated concentration of low-density lipoprotein cholesterol in the blood.
has alternative id: HP:0008343
has db xref: MSH:D006938
has db xref: SNOMEDCT_US:190773008
has db xref: SNOMEDCT_US:398036000
has db xref: UMLS:C0020445
has db xref: UMLS:C0549399
has exact synonym: Hyperbetalipoproteinemia
has exact synonym: Increased LDL cholesterol
has exact synonym: Increased LDLc concentration
has exact synonym: Increased beta-lipoproteins
has exact synonym: Increased circulating LDL level
has exact synonym: Increased circulating low-density lipoprotein cholesterol
has exact synonym: Increased circulating low-density lipoprotein levels
has exact synonym: Increased plasma LDL levels
has OBO namespace: human_phenotype
id: HP:0003141
type: Class
subclass of: HP_0010980
subclass of: HP_0031886
notation: HP:0003141

Excessive purine production
tree view: HP_0012337
has db xref: UMLS:C4025645
has OBO namespace: human_phenotype
id: HP:0003142
type: Class
subclass of: HP_0012337
notation: HP:0003142

HP_0003143
IAO_0000231: IAO_0000227
IAO_0100001: Elevated hepatic transaminase
type: Class
deprecated: true
notation: HP:0003143

Increased serum serotonin
tree view: Abnormal circulating hormone level
IAO_0000115: A increased concentration of serotonin in the blood.
has db xref: UMLS:C0877243
has exact synonym: Increased serum serotonin
has OBO namespace: human_phenotype
id: HP:0003144
type: Class
subclass of: Abnormal circulating hormone level
notation: HP:0003144

Decreased adenosylcobalamin
tree view: HP_0040126
IAO_0000115: Decreased concentration of adenosylcobalamin. Adenosylcobalamin is one of the active forms of vitamin B12.
has db xref: UMLS:C1848556
has exact synonym: Decreased ADOCBL
has OBO namespace: human_phenotype
id: HP:0003145
type: Class
subclass of: HP_0040126
notation: HP:0003145

Hypocholesterolemia
tree view: Abnormal circulating cholesterol concentration
IAO_0000115: An decreased concentration of cholesterol in the blood.
has db xref: SNOMEDCT_US:61336008
has db xref: UMLS:C0151718
has exact synonym: Decreased circulating cholesterol level
has OBO namespace: human_phenotype
id: HP:0003146
type: Class
subclass of: Abnormal circulating cholesterol concentration
notation: HP:0003146

HP_0003147
IAO_0000231: IAO_0000227
IAO_0100001: Decreased circulating total IgM
type: Class
deprecated: true
notation: HP:0003147

Elevated serum acid phosphatase
tree view: Abnormality of lysosomal metabolism
has db xref: UMLS:C1839866
has exact synonym: Acid phosphatase elevated
has exact synonym: Elevated serum acid phosphatase
has OBO namespace: human_phenotype
id: HP:0003148
type: Class
comment: Acid phosphatase can free attached phosphate groups from other molecules. It is a lysosomal enzyme.
subclass of: Abnormality of lysosomal metabolism
notation: HP:0003148

Hyperuricosuria
tree view: Abnormality of urine homeostasis
tree view: Abnormal circulating nitrogen compound concentration
IAO_0000115: An abnormally high level of uric acid in the urine.
has db xref: UMLS:C0948643
has exact synonym: High urine uric acid level
has OBO namespace: human_phenotype
id: HP:0003149
type: Class
subclass of: Abnormality of urine homeostasis
subclass of: Abnormal circulating nitrogen compound concentration
notation: HP:0003149

Glutaric aciduria
tree view: Dicarboxylic aciduria
IAO_0000115: An increased concentration of glutaric acid in the urine.
has alternative id: HP:0003490
has db xref: SNOMEDCT_US:28987007
has db xref: UMLS:C0268594
has exact synonym: Glutarate aciduria
has exact synonym: Glutaricaciduria
has exact synonym: Increased glutarate level in urine
has OBO namespace: human_phenotype
id: HP:0003150
type: Class
subclass of: Dicarboxylic aciduria
notation: HP:0003150

HP_0003151
IAO_0000231: IAO_0000227
IAO_0100001: HP_0006958
type: Class
deprecated: true
notation: HP:0003151

Increased serum 1,25-dihydroxyvitamin D3
tree view: Abnormal circulating hormone level
has db xref: UMLS:C1833331
has exact synonym: Increased serum calcitriol
has OBO namespace: human_phenotype
id: HP:0003152
type: Class
subclass of: Abnormal circulating hormone level
notation: HP:0003152

Cystathioninuria
tree view: Aminoaciduria
IAO_0000115: An elevated urinary concentration of cystathionine.
has db xref: SNOMEDCT_US:13003007
has db xref: UMLS:C0220993
has exact synonym: High urine cystathionine levels
has OBO namespace: human_phenotype
id: HP:0003153
type: Class
comment: Cystathionine can be directly interconverted to cysteine. Normal cystathione urinary values are under 150 micromole per gram creatinine.
subclass of: Aminoaciduria
notation: HP:0003153

Increased circulating ACTH level
tree view: HP_0011043
IAO_0000115: An abnormal increased in the concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), in the blood.
has db xref: UMLS:C4021740
has exact synonym: High blood corticotropin levels
has exact synonym: Increased circulating ACTH level
has exact synonym: Increased plasma ACTH
has OBO namespace: human_phenotype
id: HP:0003154
type: Class
subclass of: HP_0011043
notation: HP:0003154

Elevated alkaline phosphatase
tree view: Abnormality of alkaline phosphatase activity
IAO_0000115: Abnormally increased serum levels of alkaline phosphatase activity.
has alternative id: HP:0002911
has alternative id: HP:0003636
has alternative id: HP:0008296
has db xref: UMLS:C0750857
has exact synonym: Elevated ALP
has exact synonym: Elevated alkaline phosphatase
has exact synonym: Greatly elevated alkaline phosphatase
has exact synonym: High serum alkaline phosphatase
has exact synonym: Hyperphosphatasemia
has exact synonym: Hyperphosphatasia
has exact synonym: Increased alkaline phosphatase
has exact synonym: Increased serum alkaline phosphatase
has OBO namespace: human_phenotype
id: HP:0003155
type: Class
subclass of: Abnormality of alkaline phosphatase activity
notation: HP:0003155

HP_0003156
IAO_0000231: IAO_0000227
IAO_0100001: Elevated hepatic transaminase
type: Class
deprecated: true
notation: HP:0003156

HP_0003157
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009830
type: Class
deprecated: true
notation: HP:0003157

Hyposthenuria
tree view: Abnormality of urine homeostasis
IAO_0000115: An abnormally low urinary specific gravity, i.e., reduced concentration of solutes in the urine.
has db xref: SNOMEDCT_US:76023003
has db xref: UMLS:C0232831
has exact synonym: Reduced urinary osmolality
has OBO namespace: human_phenotype
id: HP:0003158
type: Class
comment: Hyposthenuria may occur with impaired renal concentrating power or upon abnormally low hormonal stimulation, as in diabetes insipidus.
subclass of: Abnormality of urine homeostasis
notation: HP:0003158

Hyperoxaluria
tree view: Organic aciduria
IAO_0000115: Increased excretion of oxalates in the urine.
has db xref: MSH:D006959
has db xref: SNOMEDCT_US:367621000119107
has db xref: UMLS:C0020500
has exact synonym: High urine oxalate levels
has exact synonym: Increased level of oxalate in urine
has OBO namespace: human_phenotype
id: HP:0003159
type: Class
subclass of: Organic aciduria
notation: HP:0003159

Abnormal isoelectric focusing of serum transferrin
tree view: HP_0012347
IAO_0000115: Glycosylated transferrin concentrations can be measured in serum as a marker of N-linked glycosylation fidelity. In the traditional nomenclature for congenital disorders of glycosylation, absence of entire glycans was designated type I, and loss of one or more monosaccharides as type II. These terms are retained for historical reasons but for new annotations the precise glycosylation defect should be recorded.
has db xref: UMLS:C2749688
has exact synonym: Abnormal isoelectric focusing of serum transferrin
has exact synonym: Abnormal transferrin isoelectric focusing
has OBO namespace: human_phenotype
id: HP:0003160
type: Class
comment: Human serum transferrin has two N-glycosylation sites, which are normally both fully occupied by disialylated biantennary glycans to generate tetrasialotransferrin.
subclass of: HP_0012347
notation: HP:0003160

4-Hydroxyphenylpyruvic aciduria
tree view: HP_0040156
IAO_0000115: Increased concentration of pyruvic acid in the urine.
has db xref: UMLS:C1848678
has exact synonym: Hydroxyphenylpyruvic aciduria
has OBO namespace: human_phenotype
id: HP:0003161
type: Class
subclass of: HP_0040156
notation: HP:0003161

Fasting hypoglycemia
tree view: Abnormal circulating hormone level
has db xref: MSH:D007003
has db xref: SNOMEDCT_US:6974005
has db xref: UMLS:C0271708
has exact synonym: Low blood sugar when fasting
has OBO namespace: human_phenotype
id: HP:0003162
type: Class
subclass of: Abnormal circulating hormone level
notation: HP:0003162

Elevated urinary delta-aminolevulinic acid
tree view: Abnormality of urine homeostasis
IAO_0000115: An increased concentration of 5-aminolevulinic acid (CHEBI:17549) in the urine.
has db xref: UMLS:C1848702
has exact synonym: Elevated urinary delta-aminolevulinic acid
has OBO namespace: human_phenotype
id: HP:0003163
type: Class
comment: Delta-aminolevulinic acid synthesis is a rate-controlling step in heme synthesis.
subclass of: Abnormality of urine homeostasis
notation: HP:0003163

Hypothalamic gonadotropin-releasing hormone deficiency
tree view: HP_0012285
tree view: HP_0500012
has db xref: UMLS:C4025644
has exact synonym: Hypothalamic GNRH deficiency
has OBO namespace: human_phenotype
id: HP:0003164
type: Class
subclass of: HP_0012285
subclass of: HP_0500012
notation: HP:0003164

Elevated circulating parathyroid hormone level
tree view: HP_0100530
IAO_0000115: An abnormal increased concentration of parathyroid hormone.
has db xref: UMLS:C0857973
has exact synonym: Elevated circulating PTH level
has exact synonym: Elevated serum parathyroid hormone
has exact synonym: Elevated serum parathyroid hormone level
has exact synonym: Elevated serum pth
has exact synonym: Increased serum parathyroid hormone
has OBO namespace: human_phenotype
id: HP:0003165
type: Class
subclass of: HP_0100530
notation: HP:0003165

Increased urinary taurine
tree view: Aminoaciduria
IAO_0000115: Increased concentration of taurine in the urine.
has db xref: UMLS:C3806447
has exact synonym: Increased urinary taurine
has OBO namespace: human_phenotype
id: HP:0003166
type: Class
subclass of: Aminoaciduria
notation: HP:0003166

Carnosinuria
tree view: Aminoaciduria
IAO_0000115: An increased concentration of carnosine in the urine.
has db xref: SNOMEDCT_US:410051001
has db xref: UMLS:C3495558
has exact synonym: High urine carnosine levels
has OBO namespace: human_phenotype
id: HP:0003167
type: Class
comment: Carnosine is the N-(beta-alanyl) derivative of L-histidine.
subclass of: Aminoaciduria
notation: HP:0003167

Dibasicaminoaciduria
tree view: Aminoaciduria
has db xref: UMLS:C4025643
has OBO namespace: human_phenotype
id: HP:0003168
type: Class
subclass of: Aminoaciduria
notation: HP:0003168

HP_0003169
IAO_0000231: IAO_0000227
IAO_0100001: Hypoplastic iliac wing
type: Class
deprecated: true
notation: HP:0003169

Abnormality of the acetabulum
tree view: Abnormality of the hip joint
IAO_0000115: An abnormality of the acetabulum, i.e., the Acetabular part of hip bone, which together with the head of the femur forms the hip joint.
has db xref: UMLS:C4021739
has exact synonym: Abnormality of the hipbone socket
has exact synonym: Acetabular abnormality
has OBO namespace: human_phenotype
id: HP:0003170
in subset: hposlim core
type: Class
subclass of: Abnormality of the hip joint
notation: HP:0003170

HP_0003171
IAO_0000231: IAO_0000227
IAO_0100001: Flat acetabular roof
type: Class
deprecated: true
notation: HP:0003171

Abnormality of the pubic bone
tree view: Abnormality of the hip bone
IAO_0000115: An anomaly of the the pubic bone, i.e., of the ventral and anterior of the three principal components (publis, ilium, ischium) of the hip bone.
has db xref: UMLS:C4021738
has exact synonym: Abnormality of the pubic bone
has exact synonym: Abnormality of the pubic bones
has exact synonym: Abnormality of the pubis
has OBO namespace: human_phenotype
id: HP:0003172
in subset: hposlim core
type: Class
subclass of: Abnormality of the hip bone
notation: HP:0003172

Hypoplastic pubic bone
tree view: HP_0009104
IAO_0000115: Underdevelopment of the pubis, which together with the ilium and the ischium, is one of the three bones that make up the hip bone.
has db xref: UMLS:C1865030
has exact synonym: Hypoplastic pubic bones
has exact synonym: Hypoplastic pubis
has OBO namespace: human_phenotype
id: HP:0003173
type: Class
subclass of: HP_0009104
notation: HP:0003173

Abnormality of the ischium
tree view: Abnormality of the hip bone
IAO_0000115: An anomaly of the ischium, which forms the lower and back part of the hip bone.
has db xref: SNOMEDCT_US:93008005
has db xref: UMLS:C0685661
has exact synonym: Abnormality of the ischial bones
has exact synonym: Anomaly of the ischium
has OBO namespace: human_phenotype
id: HP:0003174
type: Class
comment: The ischium, together with the ilium and the pubis, forms the hip bone (os coxae).
subclass of: Abnormality of the hip bone
notation: HP:0003174

Hypoplastic ischia
tree view: Abnormality of the ischium
IAO_0000115: Underdevelopment of the ischium, which forms the lower and back part of the hip bone.
has db xref: UMLS:C1859447
has exact synonym: Hypoplastic ischial bones
has exact synonym: Hypoplastic ischii
has exact synonym: Hypoplastic ischium
has OBO namespace: human_phenotype
id: HP:0003175
in subset: hposlim core
type: Class
subclass of: Abnormality of the ischium
notation: HP:0003175

HP_0003176
IAO_0000231: IAO_0000227
IAO_0100001: Hypoplastic ilia
type: Class
deprecated: true
notation: HP:0003176

Squared iliac bones
tree view: Abnormality of the ilium
IAO_0000115: A shift from the normally round (convex) appearance of the iliac wing towards a square-like appearance.
has db xref: UMLS:C1838186
has exact synonym: Square iliac bones
has exact synonym: Squaring of iliac bones
has OBO namespace: human_phenotype
id: HP:0003177
type: Class
subclass of: Abnormality of the ilium
notation: HP:0003177

HP_0003178
IAO_0000231: IAO_0000227
IAO_0100001: Hypoplastic ilia
type: Class
deprecated: true
notation: HP:0003178

Protrusio acetabuli
tree view: Abnormality of the acetabulum
IAO_0000115: Intrapelvic bulging of the medial acetabular wall.
has db xref: SNOMEDCT_US:59606006
has db xref: UMLS:C0409495
has exact synonym: Protrusio acetabulae
has OBO namespace: human_phenotype
id: HP:0003179
in subset: hposlim core
type: Class
comment: Protrusion of the acetabulum, which is the socket that together with the head of the femur forms the hip joint. The protrusion is the result of increased depth of the socket and results in medial displacement of the femoral head.
subclass of: Abnormality of the acetabulum
notation: HP:0003179

Flat acetabular roof
tree view: Abnormality of the acetabulum
IAO_0000115: Flattening of the superior part of the acetabulum, which is a cup-shaped cavity at the base of the hipbone into which the ball-shaped head of the femur fits. The acetabular roof thereby appears horizontal rather than arched, as it normally does.
has alternative id: HP:0003171
has alternative id: HP:0008832
has alternative id: HP:0008834
has db xref: UMLS:C1837485
has exact synonym: Flat acetabular roofs
has exact synonym: Flattened acetabular roof
has exact synonym: Horizontal acetabulae
has exact synonym: Horizontal acetabular roof
has exact synonym: Horizontal acetabular roofs
has OBO namespace: human_phenotype
id: HP:0003180
in subset: hposlim core
type: Class
subclass of: Abnormality of the acetabulum
notation: HP:0003180

HP_0003181
IAO_0000231: IAO_0000227
IAO_0100001: Hypoplastic iliac wing
type: Class
deprecated: true
notation: HP:0003181

Shallow acetabular fossae
tree view: Abnormality of the acetabulum
has db xref: UMLS:C1854910
has db xref: UMLS:C1860796
has exact synonym: Shallow acetabula
has exact synonym: Shallow acetabulae
has exact synonym: Shallow acetabular fossa
has exact synonym: Shallow acetabulum
has OBO namespace: human_phenotype
id: HP:0003182
type: Class
subclass of: Abnormality of the acetabulum
notation: HP:0003182

Wide pubic symphysis
tree view: Abnormality of the pubic bone
IAO_0000115: Abnormally increased width of the pubic symphysis is the midline cartilaginous joint uniting the superior rami of the left and right pubic bones.
has db xref: UMLS:C1857190
has exact synonym: Wide symphysis of pubis
has OBO namespace: human_phenotype
id: HP:0003183
in subset: hposlim core
type: Class
subclass of: Abnormality of the pubic bone
notation: HP:0003183

Decreased hip abduction
tree view: HP_0008800
IAO_0000115: Reduced ability to move the femur outward to the side.
has db xref: UMLS:C1836589
has exact synonym: Limited hip abduction
has OBO namespace: human_phenotype
id: HP:0003184
type: Class
subclass of: HP_0008800
notation: HP:0003184

Short sacroiliac notch
tree view: HP_0030266
IAO_0000115: The sacroiliac joint in the bony pelvis connects the sacrum and the ilium of the pelvis, which are joined by strong ligaments. The notch is located directly superior to the joint. This term refers to a reduction in the height of the notch.
has alternative id: HP:0008815
has db xref: UMLS:C1866689
has exact synonym: Shortened sacroiliac notches
has exact synonym: Small sacroiliac notch
has OBO namespace: human_phenotype
id: HP:0003185
type: Class
subclass of: HP_0030266
notation: HP:0003185

Inverted nipples
tree view: Abnormal nipple morphology
IAO_0000115: The presence of nipples that instead of pointing outward are retracted inwards.
has db xref: SNOMEDCT_US:82231009
has db xref: UMLS:C0269269
has exact synonym: Invaginated nipples
has exact synonym: Inverted nipples
has OBO namespace: human_phenotype
id: HP:0003186
type: Class
subclass of: Abnormal nipple morphology
notation: HP:0003186

Breast hypoplasia
tree view: HP_0010311
IAO_0000115: Underdevelopment of the breast.
has alternative id: HP:0000784
has db xref: SNOMEDCT_US:8915006
has db xref: UMLS:C0266013
has exact synonym: Underdeveloped breasts
has OBO namespace: human_phenotype
id: HP:0003187
type: Class
subclass of: HP_0010311
notation: HP:0003187

HP_0003188
IAO_0000231: IAO_0000227
IAO_0100001: Hypoplastic nipples
type: Class
deprecated: true
notation: HP:0003188

Long nose
tree view: HP_0005105
IAO_0000115: Distance from nasion to subnasale more than two standard deviations above the mean, or alternatively, an apparently increased length from the nasal root to the nasal base.
has alternative id: HP:0005283
has alternative id: HP:0200142
has db xref: UMLS:C1839798
has exact synonym: Elongated nose
has exact synonym: Increased height of nose
has exact synonym: Increased length of nose
has exact synonym: Increased nasal height
has exact synonym: Increased nasal length
has exact synonym: Long nose
has exact synonym: Nasal elongation
has OBO namespace: human_phenotype
id: HP:0003189
type: Class
subclass of: HP_0005105
notation: HP:0003189

HP_0003190
IAO_0000231: IAO_0000227
IAO_0100001: Midline defect of the nose
type: Class
deprecated: true
notation: HP:0003190

Cleft ala nasi
tree view: Abnormality of the nasal alae
IAO_0000115: The presence of a notch in the margin of the ala nasi.
has alternative id: HP:0004412
has db xref: UMLS:C1844537
has exact synonym: Ala nasi, cleft
has exact synonym: Alar clefts
has exact synonym: Cleft nasal alae
has exact synonym: Cleft nostril
has exact synonym: Notched nasal alae
has OBO namespace: human_phenotype
has related synonym: Nostril coloboma
id: HP:0003191
type: Class
comment: The alae nasi are the lateral portions of the nose or the wings of the nostrils, which partly encircle the nostrils (nares). They are usually about the width of the columella, but vary greatly depending on the shape of the nostril. Note that individuals may be described as having a cleft ala nasi, but have a severely Underdeveloped ala nasi. In an underdeveloped ala the continuity of the tissue encircling the nostril is undisturbed while in a cleft it is disrupted. The term coloboma has been replaced because a coloboma is a remnant of a physiologically occurring discontinuity of tissue; the alae nasi do not have such a discontinuity.
subclass of: Abnormality of the nasal alae
notation: HP:0003191

HP_0003192
IAO_0000231: IAO_0000227
IAO_0100001: Short nose
type: Class
deprecated: true
notation: HP:0003192

Allergic rhinitis
tree view: HP_0012384
tree view: HP_0012393
IAO_0000115: It is characterized by one or more symptoms including sneezing, itching, nasal congestion, and rhinorrhea.
has db xref: MSH:D065631
has db xref: SNOMEDCT_US:61582004
has db xref: UMLS:C0847614
has db xref: UMLS:C2607914
has exact synonym: Hay fever
has exact synonym: Hayfever
has OBO namespace: human_phenotype
has related synonym: Nasal allergies
id: HP:0003193
type: Class
subclass of: HP_0012384
subclass of: HP_0012393
notation: HP:0003193

Short nasal bridge
tree view: Abnormality of the nasal bridge
has db xref: UMLS:C1854689
has exact synonym: Decreased length of bridge of nose
has exact synonym: Decreased length of nasal bridge
has exact synonym: Short bridge of nose
has exact synonym: Short nasal bridge
has OBO namespace: human_phenotype
id: HP:0003194
type: Class
subclass of: Abnormality of the nasal bridge
notation: HP:0003194

HP_0003195
IAO_0000231: IAO_0000227
IAO_0100001: Short nose
type: Class
deprecated: true
notation: HP:0003195

Short nose
tree view: HP_0005105
IAO_0000115: Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip.
has alternative id: HP:0000440
has alternative id: HP:0000449
has alternative id: HP:0000450
has alternative id: HP:0003192
has alternative id: HP:0003195
has alternative id: HP:0005270
has alternative id: HP:0200092
has db xref: SNOMEDCT_US:249310005
has db xref: UMLS:C0426414
has db xref: UMLS:C1854114
has exact synonym: Decreased length of nose
has exact synonym: Hypoplastic nose
has exact synonym: Nasal hypoplasia
has exact synonym: Short nose
has exact synonym: Shortened nose
has OBO namespace: human_phenotype
has related synonym: Small nose
id: HP:0003196
in subset: hposlim core
type: Class
comment: Note: a small nose has both decreased height and a decreased width. These should be coded separately.
subclass of: HP_0005105
notation: HP:0003196

HP_0003197
IAO_0000231: IAO_0000227
IAO_0100001: Abnormality of the musculature
type: Class
deprecated: true
notation: HP:0003197

Myopathy
tree view: HP_0011805
IAO_0000115: A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.
has alternative id: HP:0003569
has alternative id: HP:0003705
has alternative id: HP:0003742
has alternative id: HP:0003802
has db xref: MSH:D009135
has db xref: SNOMEDCT_US:129565002
has db xref: UMLS:C0026848
has exact synonym: Muscle tissue disease
has exact synonym: Myopathic changes
has OBO namespace: human_phenotype
id: HP:0003198
type: Class
comment: The diagnosis of myopathy is often confirmed on the basis of myopathic changes in muscle biopsy.
subclass of: HP_0011805
notation: HP:0003198

Decreased muscle mass
tree view: HP_0011805
has alternative id: HP:0003732
has db xref: UMLS:C1837108
has exact synonym: Decreased muscle mass
has exact synonym: Underdeveloped muscles
has OBO namespace: human_phenotype
id: HP:0003199
type: Class
subclass of: HP_0011805
notation: HP:0003199

Ragged-red muscle fibers
tree view: Abnormality of muscle fibers
IAO_0000115: An abnormal appearance of muscle fibers observed on muscle biopsy. Ragged red fibers can be visualized with Gomori trichrome staining as irregular and intensely red subsarcolemmal zones, whereas the normal myofibrils are green. The margins of affect fibers appear red and ragged. The ragged-red is due to the accumulation of abnormal mitochondria below the plasma membrane of the muscle fiber, leading to the appearance of a red rim and speckled sarcoplasm.
has alternative id: HP:0009076
has db xref: UMLS:C3275417
has exact synonym: Mitochondrial proliferation in muscle tissue
has exact synonym: Ragged red muscle fibers
has exact synonym: Ragged-red fibers
has OBO namespace: human_phenotype
id: HP:0003200
type: Class
comment: This finding is demonstrated by muscle biopsy. Note that additionally, muscle fibers with mitochondrial proliferation stain darkly for succinic dehydrogenase (SDH).
subclass of: Abnormality of muscle fibers
notation: HP:0003200

Rhabdomyolysis
tree view: HP_0011805
IAO_0000115: Breakdown of muscle fibers that leads to the release of muscle fiber contents (myoglobin) into the bloodstream.
has db xref: MSH:D012206
has db xref: SNOMEDCT_US:240131006
has db xref: SNOMEDCT_US:89010004
has db xref: UMLS:C0035410
has exact synonym: Breakdown of skeletal muscle
has OBO namespace: human_phenotype
id: HP:0003201
type: Class
subclass of: HP_0011805
notation: HP:0003201

Skeletal muscle atrophy
tree view: HP_0030236
tree view: HP_0040290
IAO_0000115: The presence of skeletal muscular atrophy (which is also known as amyotrophy).
has alternative id: HP:0001299
has alternative id: HP:0003545
has alternative id: HP:0003671
has alternative id: HP:0003702
has alternative id: HP:0003746
has alternative id: HP:0006995
has alternative id: HP:0007171
has alternative id: HP:0007356
has alternative id: HP:0009010
has alternative id: HP:0009048
has alternative id: HP:0100868
has db xref: MSH:D009133
has db xref: SNOMEDCT_US:74035001
has db xref: UMLS:C0234958
has db xref: UMLS:C0270948
has db xref: UMLS:C0541794
has db xref: UMLS:C1843479
has exact synonym: Amyotrophy
has exact synonym: Amyotrophy involving the extremities
has exact synonym: Muscle atrophy
has exact synonym: Muscle atrophy, neurogenic
has exact synonym: Muscle degeneration
has exact synonym: Muscle hypotrophy
has exact synonym: Muscle wasting
has exact synonym: Muscular atrophy
has exact synonym: Neurogenic muscle atrophy
has exact synonym: Neurogenic muscle atrophy, especially in the lower limbs
has exact synonym: Neurogenic muscular atrophy
has OBO namespace: human_phenotype
id: HP:0003202
type: Class
subclass of: HP_0030236
subclass of: HP_0040290
notation: HP:0003202

Impaired oxidative burst
tree view: HP_0011993
IAO_0000115: In the NBT test, neutrophils change the colorless compound NBT into a compound with a deep blue color. If this test is negative (i.e., no blue color is produced), then this indicates a defect in superoxide-generating NADPH oxidase activity with inability to efficiently kill phagocytized bacteria.
has db xref: UMLS:C4280805
has exact synonym: Negative NBT reduction test
has exact synonym: Negative nitroblue tetrazolium reduction test
has OBO namespace: human_phenotype
id: HP:0003203
type: Class
comment: The NBT test measures the ability of neutrophils to convert nitroblue tetrazolium (NBT), to a deep blue color. This test can be abnormal in chronic granulomatous disease.
subclass of: HP_0011993
notation: HP:0003203

Intracellular accumulation of autofluorescent lipopigment storage material
tree view: HP_0011017
IAO_0000115: The intracellular accumulation of autofluorescent storage material.
has db xref: UMLS:C4025642
has OBO namespace: human_phenotype
id: HP:0003204
type: Class
comment: Accumulation of intracellular autofluorescent material or aging pigment has been characterized as a normal aging event. Lipofuscin (from the Greek word for fat and the Latin word for dark), refers to intracellular autofluorescent material that accumulates in aging cells with a excitation wavelength between 320 and 480 nm and an emission wavelength between 460 and 630 nm. Lpofuscin consists of a mixture of oxidized proteins and lipids, carbohydrates and trace amount of metals. Ceroid iss a lipofuscin-like lipopigment that arises from pathological conditions such as disease, malnutrition, and cell stress. Subunit c of mitochondrial ATP synthase makes up approximately 40% of this lipopigment/ceroid accumulation.
subclass of: HP_0011017
notation: HP:0003204

Curvilinear intracellular accumulation of autofluorescent lipopigment storage material
tree view: Intracellular accumulation of autofluorescent lipopigment storage material
IAO_0000115: An intracellular accumulation of autofluorescent lipopigment storage material in a curved pattern.
has db xref: UMLS:C1836852
has exact synonym: 'Curvilinear profiles' ultrastructurally in cells
has exact synonym: 'curvilinear profiles' ultrastructurally
has exact synonym: Curvilinear profiles ultrastructurally
has exact synonym: Intracellular curvilinear profiles on ultrastructural analysis
has OBO namespace: human_phenotype
id: HP:0003205
type: Class
subclass of: Intracellular accumulation of autofluorescent lipopigment storage material
notation: HP:0003205

Decreased activity of NADPH oxidase
tree view: Abnormality of superoxide metabolism
has db xref: UMLS:C1844394
has OBO namespace: human_phenotype
id: HP:0003206
type: Class
subclass of: Abnormality of superoxide metabolism
notation: HP:0003206

Arterial calcification
tree view: Vascular calcification
tree view: HP_0011004
IAO_0000115: Pathological deposition of calcium salts in one or more arteries.
created by: peter
creation date: 2008-03-26T04:05:00Z
has alternative id: HP:0012455
has db xref: UMLS:C1168153
has OBO namespace: human_phenotype
id: HP:0003207
type: Class
comment: Most individuals aged over 60 years have progressively enlarging deposits of calcium mineral in their major arteries. This vascular calcification reduces aortic and arterial elastance, which impairs cardiovascular hemodynamics, resulting in substantial morbidity and mortality in the form of hypertension, aortic stenosis, cardiac hypertrophy, myocardial and lower-limb ischemia, congestive heart failure, and compromised structural integrity.The severity and extent of mineralization reflect atherosclerotic plaque burden and strongly and independently predict cardiovascular morbidity and mortality. (From PMID:18519861).
subclass of: Vascular calcification
subclass of: HP_0011004
notation: HP:0003207

Fingerprint intracellular accumulation of autofluorescent lipopigment storage material
tree view: Intracellular accumulation of autofluorescent lipopigment storage material
IAO_0000115: An intracellular accumulation of autofluorescent lipopigment storage material in a trabecular or fingerprint-like pattern.
has db xref: UMLS:C1836851
has exact synonym: 'Fingerprint profiles' ultrastructurally in cells
has exact synonym: Fingerprint profiles ultrastructurally
has OBO namespace: human_phenotype
id: HP:0003208
type: Class
subclass of: Intracellular accumulation of autofluorescent lipopigment storage material
notation: HP:0003208

Decreased pyruvate carboxylase activity
tree view: Abnormality of Krebs cycle metabolism
IAO_0000115: A decreased rate of pyruvate carboxylase activity.
has db xref: UMLS:C4025641
has OBO namespace: human_phenotype
id: HP:0003209
type: Class
comment: Pyruvate carboxylase (EC 6.4.1.1) is a nuclear-encoded mitochondrial enzyme that catalyzes the conversion of pyruvate to oxaloacetate, a precursor for the citric acid cycle.
subclass of: Abnormality of Krebs cycle metabolism
notation: HP:0003209

Decreased methylmalonyl-CoA mutase activity
tree view: Abnormality of Krebs cycle metabolism
IAO_0000115: An abnormality of Krebs cycle metabolism that is characterized by a decreased rate of methylmalonyl-CoA mutase activity.
has db xref: UMLS:C1848579
has exact synonym: Decreased methylmalonyl CoA mutase activity
has OBO namespace: human_phenotype
id: HP:0003210
type: Class
comment: The product of the enzyme, succinyl-CoA, is a key molecule of the TCA (Krebs) cycle. The substrate of the enzyme, methylmalonyl-CoA, is primarily derived from propionyl-CoA, a substance formed from the catabolism of isoleucine, valine, threonine, methionine, thymine, uracil, cholesterol, or odd-chain fatty acids.
subclass of: Abnormality of Krebs cycle metabolism
notation: HP:0003210

HP_0003211
IAO_0000231: IAO_0000227
IAO_0100001: HP_0008180
type: Class
deprecated: true
notation: HP:0003211

Increased circulating total IgE level
tree view: HP_0010702
tree view: HP_0410241
IAO_0000115: An abnormally increased overall level of immunoglobulin E in blood.
has alternative id: HP:0005382
has alternative id: HP:0005418
has alternative id: HP:0005433
has db xref: UMLS:C0236175
has exact synonym: Elevated immunoglobulin E
has exact synonym: Elevated serum IgE
has exact synonym: High immunoglobulin E
has OBO namespace: human_phenotype
id: HP:0003212
type: Class
subclass of: HP_0010702
subclass of: HP_0410241
notation: HP:0003212

Deficient excision of UV-induced pyrimidine dimers in DNA
tree view: Abnormality of DNA repair
has db xref: UMLS:C4025640
has OBO namespace: human_phenotype
id: HP:0003213
type: Class
subclass of: Abnormality of DNA repair
notation: HP:0003213

Prolonged G2 phase of cell cycle
tree view: HP_0011018
has db xref: UMLS:C4025639
has OBO namespace: human_phenotype
id: HP:0003214
type: Class
subclass of: HP_0011018
notation: HP:0003214

Dicarboxylic aciduria
tree view: Organic aciduria
IAO_0000115: An increased concentration of dicarboxylic acid in the urine.
has db xref: UMLS:C1856432
has OBO namespace: human_phenotype
id: HP:0003215
type: Class
comment: Dicarboxylic aciduria occurs during increased mobilization or inhibited beta-oxidation of fatty acids, where a number of 3-hydroxydicarboxylic acids are excreted in the urine.
subclass of: Organic aciduria
notation: HP:0003215

Generalized amyloid deposition
tree view: HP_0011034
IAO_0000115: A diffuse form of amyloidosis.
has db xref: UMLS:C1862968
has OBO namespace: human_phenotype
id: HP:0003216
type: Class
comment: According to MeSH (D000682), Amyloid is fibrous protein complex that consists of proteins folded into a specific cross beta-pleated sheet structure. This fibrillar structure has been found as an alternative folding pattern for a variety of functional proteins. Deposits of amyloid in the form of amyloid plaques are associated with a variety of degenerative diseases. The amyloid structure has also been found in a number of functional proteins that are unrelated to disease.
subclass of: HP_0011034
notation: HP:0003216

Hyperglutaminemia
tree view: HP_0010903
IAO_0000115: An increased concentration of glutamine in the blood.
has db xref: UMLS:C1839533
has exact synonym: High plasma glutamine
has OBO namespace: human_phenotype
id: HP:0003217
type: Class
comment: Normal glutamine blood levels are around 550-600 micromole per liter.
subclass of: HP_0010903
notation: HP:0003217

Oroticaciduria
tree view: HP_0031980
IAO_0000115: An increased concentration of orotic acid in the urine.
has alternative id: HP:0000810
has alternative id: HP:0010928
has db xref: SNOMEDCT_US:124277009
has db xref: SNOMEDCT_US:47641009
has db xref: UMLS:C0268128
has exact synonym: High urine orotic acid levels
has exact synonym: Increased urinary orotic acid concentration
has OBO namespace: human_phenotype
has related synonym: Orotic aciduria
id: HP:0003218
type: Class
comment: Orotic acid is an intermediate in the biosynthesis of pyrimidine nucleotides. Some enzymatic deficiencies can cause the excretion of a large amount of orotic acid in the urine and a defect in pyrimidine biosynthesis.
subclass of: HP_0031980
notation: HP:0003218

Ethylmalonic aciduria
tree view: Dicarboxylic aciduria
IAO_0000115: An increased concentration of ethylmalonic acid in the urine.
has db xref: UMLS:C1865353
has OBO namespace: human_phenotype
id: HP:0003219
type: Class
comment: Ethylmalonic acid is a dicarboxylic acid obtained by substitution of one of the methylene hydrogens of malonic acid by an ethyl group.
subclass of: Dicarboxylic aciduria
notation: HP:0003219

Abnormality of chromosome stability
tree view: HP_0011017
IAO_0000115: A type of chromosomal aberration characterised by reduced resistance of chromosomes to change or deterioration.
has alternative id: HP:0002915
has alternative id: HP:0008307
has db xref: MSH:D019457
has db xref: UMLS:C0376628
has db xref: UMLS:C1859424
has OBO namespace: human_phenotype
id: HP:0003220
type: Class
subclass of: HP_0011017
notation: HP:0003220

Chromosomal breakage induced by crosslinking agents
tree view: HP_0040012
IAO_0000115: Increased amount of chromosomal breaks in cultured blood lymphocytes or other cells induced by treatment with DNA cross-linking agents such as diepoxybutane and mitomycin C.
has db xref: UMLS:C4021737
has exact synonym: Chromosomal breakage induced by diepoxybutane
has exact synonym: Chromosomal breakage induced by mitomycin C
has OBO namespace: human_phenotype
id: HP:0003221
type: Class
comment: Increased tendency to chromosomal breakage induced by crosslinking agents is typical for the various forms of Fanconi anemia.
subclass of: HP_0040012
notation: HP:0003221

HP_0003222
IAO_0000231: IAO_0000227
IAO_0100001: Hypothyroidism
type: Class
deprecated: true
notation: HP:0003222

Decreased methylcobalamin
tree view: HP_0040126
IAO_0000115: Decreased concentration of methylcobalamin. Methylcobalamin is a form of vitamin B12.
has alternative id: HP:0008287
has db xref: UMLS:C4021736
has exact synonym: Methylcobalamin deficiency
has OBO namespace: human_phenotype
id: HP:0003223
type: Class
subclass of: HP_0040126
notation: HP:0003223

Increased cellular sensitivity to UV light
tree view: HP_0011017
has db xref: UMLS:C1857707
has OBO namespace: human_phenotype
id: HP:0003224
type: Class
subclass of: HP_0011017
notation: HP:0003224

Reduced coagulation factor V activity
tree view: HP_0031899
IAO_0000115: Decreased activity of coagulation factor V.
has db xref: MSH:D005166
has db xref: SNOMEDCT_US:4320005
has db xref: SNOMEDCT_US:88776002
has db xref: UMLS:C0015499
has exact synonym: Reduced factor V activity
has OBO namespace: human_phenotype
has related synonym: Factor V deficiency
id: HP:0003225
type: Class
comment: Factor V is activated to factor Va by means of minute amounts of thrombin (and inactivated by larger amounts of thrombin). Activated factor V (fVa) is a cofactor in the formation of the prothrombinase complex.
subclass of: HP_0031899
notation: HP:0003225

Rectilinear intracellular accumulation of autofluorescent lipopigment storage material
tree view: Intracellular accumulation of autofluorescent lipopigment storage material
IAO_0000115: An intracellular accumulation of autofluorescent lipopigment storage material in a straight or rectilinear pattern.
has db xref: UMLS:C1850447
has exact synonym: Rectilinear profiles ultrastructurally
has OBO namespace: human_phenotype
id: HP:0003226
type: Class
subclass of: Intracellular accumulation of autofluorescent lipopigment storage material
notation: HP:0003226

HP_0003227
IAO_0000231: IAO_0000227
IAO_0100001: Elevated serum creatinine
type: Class
deprecated: true
notation: HP:0003227

Hypernatremia
tree view: HP_0010931
IAO_0000115: An abnormally increased sodium concentration in the blood.
has db xref: MSH:D006955
has db xref: SNOMEDCT_US:286926003
has db xref: SNOMEDCT_US:39355002
has db xref: UMLS:C0020488
has exact synonym: High blood sodium levels
has OBO namespace: human_phenotype
id: HP:0003228
type: Class
subclass of: HP_0010931
notation: HP:0003228

HP_0003229
IAO_0000231: IAO_0000227
IAO_0100001: HP_0005542
type: Class
deprecated: true
notation: HP:0003229

HP_0003230
IAO_0000231: IAO_0000227
IAO_0100001: HP_0007688
type: Class
deprecated: true
notation: HP:0003230

Hypertyrosinemia
tree view: HP_0010917
IAO_0000115: An increased concentration of tyrosine in the blood.
has db xref: SNOMEDCT_US:56595005
has db xref: UMLS:C1879362
has exact synonym: Increased tyrosine in blood
has exact synonym: Tyrosinemia
has OBO namespace: human_phenotype
id: HP:0003231
type: Class
comment: Defect in fumarylacetoacetase.
subclass of: HP_0010917
notation: HP:0003231

Mitochondrial malic enzyme reduced
tree view: Abnormality of mitochondrial metabolism
has db xref: UMLS:C1856697
has exact synonym: Decreased mitochondrial malic enzyme
has OBO namespace: human_phenotype
id: HP:0003232
type: Class
subclass of: Abnormality of mitochondrial metabolism
notation: HP:0003232

Decreased HDL cholesterol concentration
tree view: HP_0010981
tree view: HP_0031888
IAO_0000115: An decreased concentration of high-density lipoprotein cholesterol in the blood.
has db xref: MSH:D052456
has db xref: SNOMEDCT_US:190785000
has db xref: UMLS:C0151691
has db xref: UMLS:C0473527
has exact synonym: Decreased HDL cholesterol
has exact synonym: Decreased circulating high-density lipoprotein cholesterol
has exact synonym: Decreased circulating high-density lipoprotein levels
has exact synonym: Hypoalphalipoproteinemia
has exact synonym: Low HDL-cholesterol
has OBO namespace: human_phenotype
id: HP:0003233
type: Class
subclass of: HP_0010981
subclass of: HP_0031888
notation: HP:0003233

Decreased plasma carnitine
tree view: Abnormality of mitochondrial metabolism
tree view: HP_0010967
IAO_0000115: A decreased concentration of carnitine in the blood.
has db xref: SNOMEDCT_US:421784001
has db xref: UMLS:C1142132
has exact synonym: Decreased plasma carnitine
has OBO namespace: human_phenotype
has related synonym: Carnitine deficiency
id: HP:0003234
type: Class
comment: Carnitine is responsible for the transport of fatty acids from the cytosol into the mitochondria.
subclass of: Abnormality of mitochondrial metabolism
subclass of: HP_0010967
notation: HP:0003234

Hypermethioninemia
tree view: HP_0010901
IAO_0000115: An increased concentration of methionine in the blood.
has db xref: MSH:C564683
has db xref: SNOMEDCT_US:124283007
has db xref: SNOMEDCT_US:43123004
has db xref: SNOMEDCT_US:57835009
has db xref: UMLS:C0268621
has exact synonym: Increased methionine in blood
has exact synonym: Methioninemia
has OBO namespace: human_phenotype
id: HP:0003235
type: Class
comment: Elevated blood methionine levels in the range of 500-2000 micromolar.
subclass of: HP_0010901
notation: HP:0003235

Elevated serum creatine kinase
tree view: HP_0040081
IAO_0000115: An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase, CPK; EC 2.7.3.2) in the blood. CPK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.
has alternative id: HP:0002147
has alternative id: HP:0002906
has alternative id: HP:0003078
has alternative id: HP:0003525
has alternative id: HP:0003531
has alternative id: HP:0008164
has db xref: UMLS:C0151576
has db xref: UMLS:C0241005
has exact synonym: Elevated blood creatine phosphokinase
has exact synonym: Elevated circulating creatine phosphokinase
has exact synonym: Elevated creatine kinase
has exact synonym: Elevated serum CPK
has exact synonym: Elevated serum creatine kinase
has exact synonym: Elevated serum creatine phosphokinase
has exact synonym: High serum creatine kinase
has exact synonym: Increased CPK
has exact synonym: Increased creatine kinase
has exact synonym: Increased creatine phosphokinase
has exact synonym: Increased serum CK
has exact synonym: Increased serum creatine kinase
has exact synonym: Increased serum creatine phosphokinase
has OBO namespace: human_phenotype
id: HP:0003236
type: Class
comment: 'has part' some ('increased amount' and ('inheres in' some (IMR_0002602 and ('part of' some blood))) and ('has modifier' some abnormal))
subclass of: HP_0040081
notation: HP:0003236

Increased circulating IgG level
tree view: HP_0010702
tree view: HP_0410242
IAO_0000115: An abnormally increased level of immunoglobulin G in blood.
has db xref: UMLS:C1858977
has exact synonym: Increased IgG level
has exact synonym: Increased levels of IgG
has exact synonym: Increased total IgG in blood
has OBO namespace: human_phenotype
id: HP:0003237
type: Class
subclass of: HP_0010702
subclass of: HP_0410242
notation: HP:0003237

Hyperpepsinogenemia I
tree view: HP_0010876
has db xref: UMLS:C4025638
has OBO namespace: human_phenotype
id: HP:0003238
type: Class
subclass of: HP_0010876
notation: HP:0003238

Phosphoethanolaminuria
tree view: Hyperphosphaturia
IAO_0000115: An increased concentration of phosphoethanolamine in the urine.
has db xref: MSH:C562646
has db xref: SNOMEDCT_US:55236002
has db xref: UMLS:C0268412
has exact synonym: High urine phosphoethanolamine levels
has OBO namespace: human_phenotype
id: HP:0003239
type: Class
subclass of: Hyperphosphaturia
notation: HP:0003239

Increased phosphoribosylpyrophosphate synthetase activity
tree view: HP_0032459
IAO_0000115: Abnormally elevated activity of the enzyme phosphoribosyl pyrophosphatesynthetase, which catalyzes the synthesis of PP-ribose-P from ATP and ribose-5-phosphate.
has db xref: UMLS:C4025637
has exact synonym: Increased PRPS1 activity
has exact synonym: Increased phosphoribosyl pyrophosphate synthetase activity
has OBO namespace: human_phenotype
id: HP:0003240
type: Class
subclass of: HP_0032459
notation: HP:0003240

External genital hypoplasia
tree view: Abnormal external genitalia
IAO_0000115: Underdevelopment of part or all of the external reproductive organs.
has alternative id: HP:0000788
has alternative id: HP:0003245
has db xref: UMLS:C1855333
has exact synonym: Hypogenitalism
has exact synonym: Small genitalia
has exact synonym: Underdevelopment of external reproductive organs
has OBO namespace: human_phenotype
id: HP:0003241
type: Class
comment: Partial or complete failure of the genitalia to develop, often as a consequence of hypogonadism.
subclass of: Abnormal external genitalia
notation: HP:0003241

HP_0003242
IAO_0000231: IAO_0000227
IAO_0100001: HP_0010459
type: Class
deprecated: true
notation: HP:0003242

HP_0003243
IAO_0000231: IAO_0000227
IAO_0100001: Gonadal dysgenesis
type: Class
deprecated: true
notation: HP:0003243

Penile hypospadias
tree view: Hypospadias
IAO_0000115: Location of the urethral opening on the inferior aspect of the penis.
has db xref: SNOMEDCT_US:204888000
has db xref: UMLS:C1691215
has OBO namespace: human_phenotype
id: HP:0003244
type: Class
subclass of: Hypospadias
notation: HP:0003244

HP_0003245
IAO_0000231: IAO_0000227
IAO_0100001: External genital hypoplasia
type: Class
deprecated: true
notation: HP:0003245

Prominent scrotal raphe
tree view: Abnormality of the scrotum
IAO_0000115: Increased size of the ridge of tissue that extends along the midline of the scrotum.
has db xref: UMLS:C1852407
has exact synonym: Prominent perineal raphe
has OBO namespace: human_phenotype
id: HP:0003246
type: Class
subclass of: Abnormality of the scrotum
notation: HP:0003246

Overgrowth of external genitalia
tree view: Abnormal external genitalia
has db xref: UMLS:C1851722
has exact synonym: Overgrowth of external genitalia
has OBO namespace: human_phenotype
id: HP:0003247
type: Class
subclass of: Abnormal external genitalia
notation: HP:0003247

Gonadal tissue inappropriate for external genitalia or chromosomal sex
tree view: Ambiguous genitalia
has db xref: UMLS:C1860268
has OBO namespace: human_phenotype
id: HP:0003248
type: Class
subclass of: Ambiguous genitalia
notation: HP:0003248

Genital ulcers
tree view: HP_0012243
has db xref: UMLS:C0151281
has exact synonym: Genital ulcers
has OBO namespace: human_phenotype
id: HP:0003249
type: Class
subclass of: HP_0012243
notation: HP:0003249

Aplasia of the vagina
tree view: HP_0011026
IAO_0000115: Aplasia of the vagina.
has alternative id: HP:0008709
has db xref: MSH:C536523
has db xref: SNOMEDCT_US:248871003
has db xref: SNOMEDCT_US:87380008
has db xref: UMLS:C0220763
has db xref: UMLS:C1321884
has db xref: UMLS:C1841990
has exact synonym: Absent vagina
has exact synonym: Congenital absence of the vagina
has OBO namespace: human_phenotype
id: HP:0003250
type: Class
subclass of: HP_0011026
notation: HP:0003250

Male infertility
tree view: Infertility
tree view: HP_0012041
has db xref: MSH:D007248
has db xref: SNOMEDCT_US:2904007
has db xref: UMLS:C0021364
has exact synonym: Male infertility
has OBO namespace: human_phenotype
id: HP:0003251
type: Class
subclass of: Infertility
subclass of: HP_0012041
notation: HP:0003251

Anteriorly displaced genitalia
tree view: HP_0012243
has db xref: UMLS:C1848653
has OBO namespace: human_phenotype
id: HP:0003252
type: Class
subclass of: HP_0012243
notation: HP:0003252

HP_0003253
IAO_0000231: IAO_0000227
IAO_0100001: Abnormal blood ion concentration
type: Class
deprecated: true
notation: HP:0003253

Abnormality of DNA repair
tree view: HP_0011017
IAO_0000115: An abnormality of the process of DNA repair, that is, of the process of restoring DNA after damage.
has db xref: UMLS:C4021848
has OBO namespace: human_phenotype
id: HP:0003254
type: Class
subclass of: HP_0011017
notation: HP:0003254

HP_0003255
IAO_0000231: IAO_0000227
IAO_0100001: Lactic acidosis
type: Class
deprecated: true
notation: HP:0003255

Abnormality of the coagulation cascade
tree view: Abnormality of coagulation
IAO_0000115: An abnormality of the coagulation cascade, which is comprised of the contact activation pathway (also known as the intrinsic pathway) and the tissue factor pathway (also known as the extrinsic pathway) as well as cofactors and regulators.
has alternative id: HP:0001925
has db xref: MSH:D001778
has db xref: SNOMEDCT_US:362970003
has db xref: SNOMEDCT_US:64779008
has db xref: UMLS:C0005779
has exact synonym: Coagulopathy
has OBO namespace: human_phenotype
id: HP:0003256
type: Class
subclass of: Abnormality of coagulation
notation: HP:0003256

HP_0003257
IAO_0000231: IAO_0000227
IAO_0100001: Abnormality of the immune system
type: Class
deprecated: true
notation: HP:0003257

Glyoxalase deficiency
tree view: HP_0012379
has db xref: UMLS:C3279658
has OBO namespace: human_phenotype
id: HP:0003258
type: Class
subclass of: HP_0012379
notation: HP:0003258

Elevated serum creatinine
tree view: Azotemia
tree view: HP_0012100
IAO_0000115: An increased amount of creatinine in the blood.
has alternative id: HP:0003227
has db xref: SNOMEDCT_US:166717003
has db xref: UMLS:C0700225
has exact synonym: Elevated creatinine
has exact synonym: High blood creatinine level
has exact synonym: Increased creatinine
has exact synonym: Increased serum creatinine
has OBO namespace: human_phenotype
id: HP:0003259
type: Class
subclass of: Azotemia
subclass of: HP_0012100
notation: HP:0003259

Hydroxyprolinemia
tree view: HP_0010907
IAO_0000115: An increased concentration of hydroxyproline in the blood.
has db xref: MSH:C562669
has db xref: SNOMEDCT_US:25739007
has db xref: UMLS:C0268531
has exact synonym: High blood hydroxyproline levels
has OBO namespace: human_phenotype
id: HP:0003260
type: Class
comment: Hydroxyproline is an imino acid normally present in human plasma and is derived primarily from endogenous collagen turnover and the breakdown of dietary collagen. Hyperhydroxyprolinemic patients show hydroxyproline blood levels between 150 and 500 micromole per liter. Normal levels are around 10-20 micromole per liter.
subclass of: HP_0010907
notation: HP:0003260

Increased circulating IgA level
tree view: HP_0010702
tree view: HP_0410240
IAO_0000115: An abnormally increased level of immunoglobulin A in blood.
has alternative id: HP:0004436
has alternative id: HP:0005351
has alternative id: HP:0005417
has db xref: UMLS:C0239984
has exact synonym: Elevated IgA
has exact synonym: Elevated serum IgA
has exact synonym: IgA hypergammaglobulinemia
has exact synonym: Increased levels of IgA
has exact synonym: Increased serum IgA
has OBO namespace: human_phenotype
id: HP:0003261
type: Class
subclass of: HP_0010702
subclass of: HP_0410240
notation: HP:0003261

Smooth muscle antibody positivity
tree view: HP_0030057
IAO_0000115: The presence in serum of antibodies against smooth muscle.
has db xref: SNOMEDCT_US:310290006
has db xref: UMLS:C0241185
has exact synonym: Anti-smooth muscle antibody positivity
has exact synonym: Smooth muscle antibody positive
has OBO namespace: human_phenotype
id: HP:0003262
type: Class
comment: Anti smooth muscle antibody (SMA) may be present in a number of conditions including chronic active hepatitis, autoimmune hepatitis, cirrhosis, and infectious mononucleosis.
subclass of: HP_0030057
notation: HP:0003262

HP_0003263
IAO_0000231: IAO_0000227
IAO_0100001: Decreased circulating renin level
type: Class
deprecated: true
notation: HP:0003263

Deficiency of N-acetylglucosamine-1-phosphotransferase
tree view: Abnormality of lysosomal metabolism
has db xref: MSH:D009081
has db xref: SNOMEDCT_US:70199000
has db xref: UMLS:C0020725
has OBO namespace: human_phenotype
id: HP:0003264
type: Class
comment: N-acetylglucosamine-1-phosphotransferase catalyzes the initial step in the synthesis of the mannose 6-phosphate determinant required for efficient intracellular targeting of newly synthesized lysosomal hydrolases to the lysosome.
subclass of: Abnormality of lysosomal metabolism
notation: HP:0003264

Neonatal hyperbilirubinemia
tree view: Hyperbilirubinemia
IAO_0000115: A type of hyperbilirubinemia with neonatal onset.
has alternative id: HP:0008152
has db xref: MSH:D051556
has db xref: SNOMEDCT_US:281610001
has db xref: UMLS:C0857007
has exact synonym: High blood bilirubin levels in neonate
has exact synonym: Hyperbilirubinemia, neonatal
has OBO namespace: human_phenotype
id: HP:0003265
type: Class
subclass of: Hyperbilirubinemia
notation: HP:0003265

HP_0003266
IAO_0000231: IAO_0000227
IAO_0100001: Hyperphosphaturia
type: Class
deprecated: true
notation: HP:0003266

Reduced orotidine 5-prime phosphate decarboxylase activity
tree view: HP_0012379
IAO_0000115: An abnormal decrease in orotidine 5'-phosphate decarboxylase activity.
has db xref: UMLS:C4020845
has db xref: UMLS:C4025636
has OBO namespace: human_phenotype
has related synonym: Orotidine-5-prime-phosphate decarboxylase defect
id: HP:0003267
type: Class
comment: The enzyme orotidine-5-prime-phosphate decarboxylase (EC 4.1.1.23) catalyzes the reaction H(+) + orotidine 5'-phosphate = CO(2) + UMP (uridine monophosphate). The enzyme is thusinvolved in pyrimidine biosynthesis.
subclass of: HP_0012379
notation: HP:0003267

Argininuria
tree view: Aminoaciduria
IAO_0000115: A increased concentration of arginine in the urine.
has db xref: UMLS:C4025635
has exact synonym: High urine arginine levels
has OBO namespace: human_phenotype
id: HP:0003268
type: Class
comment: Normal urinary arginine total (free and combined form) excretion is around 30 mg per 24 hours.
subclass of: Aminoaciduria
notation: HP:0003268

Sudanophilic leukodystrophy
tree view: Leukodystrophy
has db xref: MSH:D020371
has db xref: SNOMEDCT_US:64855000
has db xref: UMLS:C0205711
has OBO namespace: human_phenotype
id: HP:0003269
type: Class
subclass of: Leukodystrophy
notation: HP:0003269

Abdominal distention
tree view: HP_0011458
IAO_0000115: Distention of the abdomen.
has alternative id: HP:0001542
has alternative id: HP:0003364
has db xref: SNOMEDCT_US:41931001
has db xref: SNOMEDCT_US:60728008
has db xref: UMLS:C0000731
has exact synonym: Abdominal bloating
has exact synonym: Abdominal distension
has exact synonym: Abdominal swelling
has exact synonym: Belly bloating
has exact synonym: Bloating
has exact synonym: Distended abdomen
has OBO namespace: human_phenotype
id: HP:0003270
in subset: hposlim core
type: Class
comment: Abdominal distention can be a secondary feature associated with a number of conditions such as bowel obstruction.
subclass of: HP_0011458
notation: HP:0003270

Visceromegaly
tree view: Abnormality of abdomen morphology
IAO_0000115: Abnormal increased size of the viscera of the abdomen.
has db xref: SNOMEDCT_US:28543008
has db xref: UMLS:C0042782
has OBO namespace: human_phenotype
id: HP:0003271
type: Class
comment: Visceromegaly is enlargement of the internal organs in the abdomen, including liver, spleen, stomach, kidneys, or pancreas.
subclass of: Abnormality of abdomen morphology
notation: HP:0003271

Abnormality of the hip bone
tree view: Abnormality of pelvic girdle bone morphology
IAO_0000115: An abnormality of the hip bone.
has db xref: UMLS:C4021735
has exact synonym: Abnormality of the hip bone
has exact synonym: Abnormality of the hips
has OBO namespace: human_phenotype
id: HP:0003272
type: Class
comment: The hip region comprises the vasculature of hip, skin of hip, superficial fascia of hip, the hip bone, hip joint, and musculature of hip. The hip is part of the pelvic girdle.
subclass of: Abnormality of pelvic girdle bone morphology
notation: HP:0003272

Hip contracture
tree view: HP_0005750
tree view: HP_0008800
has db xref: SNOMEDCT_US:202283002
has db xref: UMLS:C0409354
has exact synonym: Flexion contracture of hips
has exact synonym: Flexion contractures of hips
has exact synonym: Hip contractures
has exact synonym: Hip flexion contractures
has OBO namespace: human_phenotype
id: HP:0003273
type: Class
subclass of: HP_0005750
subclass of: HP_0008800
notation: HP:0003273

Hypoplastic acetabulae
tree view: Abnormality of the acetabulum
IAO_0000115: Underdeveloped acetabulae.
has db xref: UMLS:C1846442
has exact synonym: Acetabular hypoplasia
has exact synonym: Hypoplastic acetabula
has OBO namespace: human_phenotype
id: HP:0003274
in subset: hposlim core
type: Class
subclass of: Abnormality of the acetabulum
notation: HP:0003274

Narrow pelvis bone
tree view: HP_0040163
IAO_0000115: Reduced side to side width of the pelvis.
has broad synonym: Narrow pelvis
has db xref: UMLS:C1848103
has exact synonym: Narrow pelvis bone
has OBO namespace: human_phenotype
id: HP:0003275
in subset: hposlim core
type: Class
subclass of: HP_0040163
notation: HP:0003275

Pelvic bone exostoses
tree view: HP_0040163
tree view: HP_0100777
IAO_0000115: A benign growth the projects outward from the bone surface of the pelvis. Exostoses are capped by cartilage, and arise from a bone that develops from cartilage.
has broad synonym: Pelvic exostoses
has db xref: UMLS:C1844689
has OBO namespace: human_phenotype
id: HP:0003276
type: Class
subclass of: HP_0040163
subclass of: HP_0100777
notation: HP:0003276

Constricted iliac wings
tree view: HP_0011867
has db xref: UMLS:C1854785
has OBO namespace: human_phenotype
id: HP:0003277
type: Class
subclass of: HP_0011867
notation: HP:0003277

Square pelvis bone
tree view: HP_0040163
IAO_0000115: An abnormally squared appearance of the bony pelvis, a normally rounded or basin-shaped structure.
has broad synonym: Square pelvis
has db xref: UMLS:C1849953
has exact synonym: Square pelvis bone
has OBO namespace: human_phenotype
has related synonym: Squared off pelvis
id: HP:0003278
type: Class
subclass of: HP_0040163
notation: HP:0003278

Coxa magna
tree view: Abnormality of the hip bone
IAO_0000115: Widening of the femoral head and neck.
has db xref: MSH:D000070603
has db xref: SNOMEDCT_US:296041000119103
has db xref: UMLS:C1860826
has OBO namespace: human_phenotype
id: HP:0003279
type: Class
comment: Coxa magna can occur as a result of developmental dysplasia of the hip, Perthes disease, septic arthritis, Kniest dysplasia, among others.
subclass of: Abnormality of the hip bone
notation: HP:0003279

HP_0003280
IAO_0000231: IAO_0000227
IAO_0100001: HP_0005743
type: Class
deprecated: true
notation: HP:0003280

Increased serum ferritin
tree view: HP_0040133
IAO_0000115: Abnormal raised concentration of ferritin, a ubiquitous intracellular protein that stores iron, in the blood.
has db xref: UMLS:C0241013
has db xref: UMLS:C0743912
has db xref: UMLS:C3854388
has exact synonym: Elevated serum ferritin
has exact synonym: High ferritin level
has exact synonym: Hyperferritinaemia
has exact synonym: Hyperferritinemia
has exact synonym: Increased ferritin
has exact synonym: Increased plasma ferritin
has exact synonym: Increased serum ferritin level
has OBO namespace: human_phenotype
id: HP:0003281
type: Class
comment: Ferritin levels measured in serum usually have a direct correlation with the total amount of iron stored in the body, but ferritin levels may also be increased with anemia of chronic disease or in the course of an acute phase reaction.
subclass of: HP_0040133
notation: HP:0003281

Low alkaline phosphatase
tree view: Abnormality of alkaline phosphatase activity
IAO_0000115: Abnormally reduced serum levels of alkaline phosphatase activity.
has db xref: UMLS:C1860130
has exact synonym: Decreased serum alkaline phosphatase
has exact synonym: Low ALP
has OBO namespace: human_phenotype
id: HP:0003282
type: Class
subclass of: Abnormality of alkaline phosphatase activity
notation: HP:0003282

HP_0003283
IAO_0000231: IAO_0000227
IAO_0100001: Abnormality of enteric ganglion morphology
type: Class
deprecated: true
notation: HP:0003283

HP_0003284
IAO_0000231: IAO_0000227
IAO_0100001: Hypomagnesemia
type: Class
deprecated: true
notation: HP:0003284

HP_0003285
IAO_0000231: IAO_0000227
IAO_0100001: Abnormal electroretinogram
type: Class
deprecated: true
notation: HP:0003285

Cystathioninemia
tree view: Abnormal circulating sulfur amino acid concentration
IAO_0000115: An increased concentration of cystathionine in the blood.
has db xref: SNOMEDCT_US:6669004
has db xref: UMLS:C0268618
has exact synonym: High blood cystathionine levels
has OBO namespace: human_phenotype
id: HP:0003286
type: Class
comment: Cystathionine can be directly interconverted to cysteine. Cystathionine is not normally detectable in plasma.
subclass of: Abnormal circulating sulfur amino acid concentration
notation: HP:0003286

Abnormality of mitochondrial metabolism
tree view: HP_0012103
IAO_0000115: A functional anomaly of mitochondria.
has db xref: UMLS:C4021734
has exact synonym: Mitochondrial dysfunction
has OBO namespace: human_phenotype
id: HP:0003287
type: Class
subclass of: HP_0012103
notation: HP:0003287

Mitochondrial propionyl-CoA carboxylase defect
tree view: Abnormality of mitochondrial metabolism
has db xref: UMLS:C4025634
has exact synonym: Mitochondrial PCC defect
has OBO namespace: human_phenotype
id: HP:0003288
type: Class
subclass of: Abnormality of mitochondrial metabolism
notation: HP:0003288

HP_0003289
IAO_0000231: IAO_0000227
IAO_0100001: Decreased circulating IgG level
type: Class
deprecated: true
notation: HP:0003289

HP_0003290
IAO_0000231: IAO_0000227
IAO_0100001: Decreased glucosephosphate isomerase activity
type: Class
deprecated: true
notation: HP:0003290

HP_0003291
IAO_0000231: IAO_0000227
IAO_0100001: HP_0008163
type: Class
deprecated: true
notation: HP:0003291

Decreased serum leptin
tree view: Abnormality of circulating leptin level
IAO_0000115: A decreased concentration of leptin in the blood.
has db xref: UMLS:C1837802
has exact synonym: Decreased serum leptin
has exact synonym: Reduced circulating leptin level
has OBO namespace: human_phenotype
id: HP:0003292
type: Class
comment: Leptin is an adipocyte-secreted hormone with a key role in energy homeostasis.
subclass of: Abnormality of circulating leptin level
notation: HP:0003292

HP_0003293
IAO_0000231: IAO_0000227
IAO_0100001: Elevated hepatic transaminase
type: Class
deprecated: true
notation: HP:0003293

HP_0003294
IAO_0000231: IAO_0000227
IAO_0100001: Decreased circulating IgG level
type: Class
deprecated: true
notation: HP:0003294

obsolete Impaired FSH and LH secretion
consider: HP:0030339
has OBO namespace: human_phenotype
id: HP:0003295
type: Class
deprecated: true
notation: HP:0003295

Hyperthreoninuria
tree view: HP_0008353
IAO_0000115: An increased concentration of threonine in the urine.
has db xref: UMLS:C2673931
has exact synonym: High urine threonine levels
has OBO namespace: human_phenotype
id: HP:0003296
type: Class
comment: Normal urinary threonine total (free and combined form) excretion is around 50 mg per 24 hours.
subclass of: HP_0008353
notation: HP:0003296

Hyperlysinuria
tree view: Aminoaciduria
IAO_0000115: An increased concentration of lysine in the urine.
has alternative id: HP:0002158
has db xref: UMLS:C4021733
has exact synonym: High urine lysine levels
has exact synonym: Lysinuria
has OBO namespace: human_phenotype
id: HP:0003297
type: Class
comment: Normal urinary lysine total (free and combined form) excretion is around 80 mg per 24 hours.
subclass of: Aminoaciduria
notation: HP:0003297

Spina bifida occulta
tree view: Spina bifida
IAO_0000115: The closed form of spina bifida with incomplete closure of a vertebral body with intact overlying skin.
has db xref: MSH:D016136
has db xref: SNOMEDCT_US:76916001
has db xref: UMLS:C0080174
has OBO namespace: human_phenotype
id: HP:0003298
in subset: hposlim core
type: Class
comment: May be asymptomatic.
subclass of: Spina bifida
notation: HP:0003298

HP_0003299
IAO_0000231: IAO_0000227
IAO_0100001: Hypoplasia of the odontoid process
type: Class
deprecated: true
notation: HP:0003299

Ovoid vertebral bodies
tree view: Abnormal form of the vertebral bodies
IAO_0000115: When viewed in lateral radiographs, vertebral bodies have a roughly rectangular configuration. This term applies if the vertebral body appears rounded or oval.
has alternative id: HP:0004559
has db xref: UMLS:C1855665
has db xref: UMLS:C4020844
has exact synonym: Oval vertebral bodies
has exact synonym: Ovoid vertebrae
has exact synonym: Ovoid-shaped vertebral bodies
has OBO namespace: human_phenotype
has related synonym: Bullet vertebral body
id: HP:0003300
type: Class
subclass of: Abnormal form of the vertebral bodies
notation: HP:0003300

Irregular vertebral endplates
tree view: HP_0005106
IAO_0000115: An irregular surface of the vertebral end plates, which are normally relatively smooth.
has alternative id: HP:0003420
has alternative id: HP:0004583
has alternative id: HP:0004628
has db xref: UMLS:C1842153
has exact synonym: Irregular end plates
has exact synonym: Irregular endplates
has exact synonym: end-plate irregularities
has exact synonym: endplate irregularities
has exact synonym: endplate irregularity
has exact synonym: irregular vertebral plates
has exact synonym: vertebral endplate irregularity
has OBO namespace: human_phenotype
id: HP:0003301
in subset: hposlim core
type: Class
subclass of: HP_0005106
notation: HP:0003301

Spondylolisthesis
tree view: Abnormality of the vertebral column
IAO_0000115: Complete bilateral fractures of the pars interarticularis resulting in the anterior slippage of the vertebra.
has db xref: MSH:D013168
has db xref: SNOMEDCT_US:274152003
has db xref: UMLS:C0038016
has exact synonym: Displacement of one backbone compared to another
has exact synonym: Slipped backbone
has exact synonym: Spondylolithesis
has OBO namespace: human_phenotype
id: HP:0003302
type: Class
subclass of: Abnormality of the vertebral column
notation: HP:0003302

HP_0003303
IAO_0000231: IAO_0000227
IAO_0100001: Scoliosis
type: Class
deprecated: true
notation: HP:0003303

Spondylolysis
tree view: Abnormality of the vertebral column
IAO_0000115: Spondylolysis is an osseous defect of the pars interarticularis, thought to be a developmental or acquired stress fracture secondary to chronic low-grade trauma.
has db xref: MSH:D013169
has db xref: SNOMEDCT_US:240221008
has db xref: UMLS:C0038018
has OBO namespace: human_phenotype
id: HP:0003304
in subset: hposlim core
type: Class
comment: The pars interarticularis is one of the bony bridges that connect the upper with the lower facet joints of the vertebra. Lumbar spondylolysis is a common cause of lower back pain. The vast majority of cases of spondylolysis occur at the L5 or L4 levels, and is usually diagnosed radiographically. Over half of patients affected by spondylolysis have associated spondylolisthesis.
subclass of: Abnormality of the vertebral column
notation: HP:0003304

Block vertebrae
tree view: Vertebral fusion
IAO_0000115: Congenital synostosis between two or more adjacent vertebrae (partial or complete fusion of adjacent vertabral bodies).
has db xref: UMLS:C1844753
has OBO namespace: human_phenotype
id: HP:0003305
type: Class
subclass of: Vertebral fusion
notation: HP:0003305

Spinal rigidity
tree view: Abnormality of the vertebral column
IAO_0000115: Reduced ability to move the vertebral column with a resulting limitation of neck and trunk flexion.
has db xref: UMLS:C1858025
has exact synonym: Reduced spine movement
has exact synonym: Rigid spine
has OBO namespace: human_phenotype
id: HP:0003306
type: Class
subclass of: Abnormality of the vertebral column
notation: HP:0003306

Hyperlordosis
tree view: HP_0010674
IAO_0000115: Abnormally increased cuvature (anterior concavity) of the lumbar or cervical spine.
has alternative id: HP:0002939
has db xref: MSH:D008141
has db xref: SNOMEDCT_US:249710008
has db xref: SNOMEDCT_US:61960001
has db xref: UMLS:C0024003
has exact synonym: Lordosis
has exact synonym: Prominent swayback
has OBO namespace: human_phenotype
id: HP:0003307
in subset: hposlim core
type: Class
subclass of: HP_0010674
notation: HP:0003307

Cervical subluxation
tree view: Abnormality of the cervical spine
tree view: HP_0032153
IAO_0000115: A partial dislocation of one or more intervertebral joints in the cervical vertebral column.
has db xref: UMLS:C1846798
has OBO namespace: human_phenotype
id: HP:0003308
type: Class
subclass of: Abnormality of the cervical spine
subclass of: HP_0032153
notation: HP:0003308

Ovoid thoracolumbar vertebrae
tree view: Ovoid vertebral bodies
has db xref: UMLS:C1868556
has exact synonym: Ovoid thoracic and lumbar vertebrae
has OBO namespace: human_phenotype
id: HP:0003309
type: Class
subclass of: Ovoid vertebral bodies
notation: HP:0003309

Abnormality of the odontoid process
tree view: Abnormality of the vertebral column
IAO_0000115: Abnormality of the dens of the axis, which is also known as the odontoid process.
has alternative id: HP:0004600
has db xref: UMLS:C1864794
has exact synonym: Abnormal odontoid peg
has exact synonym: Abnormal odontoid process
has OBO namespace: human_phenotype
id: HP:0003310
type: Class
comment: The dens of the axis is a protuberance of the C2 vertebral body around which the first vertebra rotates.
subclass of: Abnormality of the vertebral column
notation: HP:0003310

Hypoplasia of the odontoid process
tree view: Abnormality of the odontoid process
tree view: HP_0008518
IAO_0000115: Developmental hypoplasia of the dens of the axis.
has alternative id: HP:0003299
has alternative id: HP:0004613
has alternative id: HP:0008481
has db xref: UMLS:C1846439
has exact synonym: Hypoplastic odontoid process
has exact synonym: Odontoid hypoplasia
has exact synonym: Small odontoid peg
has exact synonym: Small odontoid process
has OBO namespace: human_phenotype
id: HP:0003311
in subset: hposlim core
type: Class
subclass of: Abnormality of the odontoid process
subclass of: HP_0008518
notation: HP:0003311

Abnormal form of the vertebral bodies
tree view: Abnormal vertebral morphology
IAO_0000115: Abnormal morphology of vertebral body.
has db xref: UMLS:C1839326
has exact synonym: Abnormally shaped vertebrae
has OBO namespace: human_phenotype
id: HP:0003312
type: Class
subclass of: Abnormal vertebral morphology
notation: HP:0003312

HP_0003313
IAO_0000231: IAO_0000227
IAO_0100001: Beaking of vertebral bodies
type: Class
deprecated: true
notation: HP:0003313

HP_0003314
IAO_0000231: IAO_0000227
IAO_0100001: Kyphosis
type: Class
deprecated: true
notation: HP:0003314

HP_0003315
IAO_0000231: IAO_0000227
IAO_0100001: Beaking of vertebral bodies
type: Class
deprecated: true
notation: HP:0003315

Butterfly vertebrae
tree view: HP_0008428
IAO_0000115: In the orthopedic and radiological literature, sagittally cleft vertebra is generally known as a butterfly vertebra.
has db xref: UMLS:C1844752
has exact synonym: Butterfly vertebrae
has OBO namespace: human_phenotype
id: HP:0003316
type: Class
subclass of: HP_0008428
notation: HP:0003316

HP_0003317
IAO_0000231: IAO_0000227
IAO_0100001: Scoliosis
type: Class
deprecated: true
notation: HP:0003317

Cervical spine hypermobility
tree view: Abnormality of the cervical spine
has db xref: SNOMEDCT_US:298186005
has db xref: UMLS:C0574967
has OBO namespace: human_phenotype
id: HP:0003318
type: Class
subclass of: Abnormality of the cervical spine
notation: HP:0003318

Abnormality of the cervical spine
tree view: Abnormality of the vertebral column
IAO_0000115: Any abnormality of the cervical vertebral column.
has alternative id: HP:0004587
has db xref: UMLS:C1852464
has exact synonym: Abnormal cervical spine
has exact synonym: Abnormality of cervical vertebra
has exact synonym: Abnormality of the cervical vertebrae
has exact synonym: Cervical spine abnormalities
has exact synonym: Cervical vertebral abnormalities
has exact synonym: Disorder of cervical vertebra
has OBO namespace: human_phenotype
has related synonym: Cervical vertebral anomalies
id: HP:0003319
type: Class
subclass of: Abnormality of the vertebral column
notation: HP:0003319

C1-C2 subluxation
tree view: Cervical subluxation
tree view: HP_0008440
IAO_0000115: A partial dislocation of the atlantoaxial joints.
has db xref: UMLS:C1848446
has OBO namespace: human_phenotype
id: HP:0003320
type: Class
comment: A subluxation affecting the intervertebral joint between the first and second cervical vertebrae.
subclass of: Cervical subluxation
subclass of: HP_0008440
notation: HP:0003320

Biconcave flattened vertebrae
tree view: Platyspondyly
tree view: Biconcave vertebral bodies
has alternative id: HP:0005782
has db xref: UMLS:C1833753
has OBO namespace: human_phenotype
id: HP:0003321
type: Class
subclass of: Platyspondyly
subclass of: Biconcave vertebral bodies
notation: HP:0003321

HP_0003322
IAO_0000231: IAO_0000227
IAO_0100001: EMG: myopathic abnormalities
type: Class
deprecated: true
notation: HP:0003322

Progressive muscle weakness
tree view: Muscle weakness
has alternative id: HP:0009032
has db xref: UMLS:C0240421
has exact synonym: Muscle weakness, progressive
has exact synonym: Progressive muscular weakness
has OBO namespace: human_phenotype
id: HP:0003323
type: Class
subclass of: Muscle weakness
notation: HP:0003323

Generalized muscle weakness
tree view: Muscle weakness
IAO_0000115: Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature.
has alternative id: HP:0003686
has alternative id: HP:0003723
has db xref: UMLS:C0746674
has exact synonym: Generalized weakness
has exact synonym: Muscle weakness, diffuse
has exact synonym: Muscle weakness, generalized
has OBO namespace: human_phenotype
id: HP:0003324
type: Class
subclass of: Muscle weakness
notation: HP:0003324

Limb-girdle muscle weakness
tree view: Muscle weakness
tree view: HP_0009127
IAO_0000115: Weakness of the limb-girdle muscles (also known as the pelvic and shoulder girdles), that is, lack of strength of the muscles around the shoulders and the pelvis.
has alternative id: HP:0008971
has db xref: UMLS:C1858127
has exact synonym: Limb girdle weakness
has exact synonym: Muscle weakness, limb-girdle
has exact synonym: Muscular weakness, limb-girdle
has OBO namespace: human_phenotype
id: HP:0003325
type: Class
subclass of: Muscle weakness
subclass of: HP_0009127
notation: HP:0003325

Myalgia
tree view: HP_0012531
IAO_0000115: Pain in muscle.
has alternative id: HP:0003718
has db xref: MSH:D063806
has db xref: SNOMEDCT_US:68962001
has db xref: UMLS:C0231528
has exact synonym: Muscle ache
has exact synonym: Muscle pain
has OBO namespace: human_phenotype
has related synonym: Myalgias
id: HP:0003326
type: Class
subclass of: HP_0012531
notation: HP:0003326

Axial muscle weakness
tree view: Muscle weakness
tree view: HP_0040286
IAO_0000115: Reduced strength of the axial musculature (i.e., of the muscles of the head and neck, spine, and ribs).
has db xref: UMLS:C1843697
has OBO namespace: human_phenotype
id: HP:0003327
type: Class
subclass of: Muscle weakness
subclass of: HP_0040286
notation: HP:0003327

Abnormal hair laboratory examination
tree view: Abnormal hair morphology
has db xref: UMLS:C4025632
has OBO namespace: human_phenotype
id: HP:0003328
type: Class
subclass of: Abnormal hair morphology
notation: HP:0003328

Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes
tree view: Abnormal hair laboratory examination
has db xref: UMLS:C4025631
has OBO namespace: human_phenotype
id: HP:0003329
type: Class
subclass of: Abnormal hair laboratory examination
notation: HP:0003329

Abnormal bone structure
tree view: HP_0011842
IAO_0000115: Any anomaly in the composite material or the layered arrangement of the bony skeleton.
has db xref: UMLS:C4025630
has OBO namespace: human_phenotype
id: HP:0003330
type: Class
subclass of: HP_0011842
notation: HP:0003330

HP_0003331
IAO_0000231: IAO_0000227
IAO_0100001: Abnormal enchondral ossification
type: Class
deprecated: true
notation: HP:0003331

Absent primary metaphyseal spongiosa
tree view: HP_0005089
has db xref: UMLS:C3277126
has OBO namespace: human_phenotype
id: HP:0003332
type: Class
subclass of: HP_0005089
notation: HP:0003332

Increased serum beta-hexosaminidase
tree view: HP_0010876
has alternative id: HP:0008299
has db xref: UMLS:C2673361
has OBO namespace: human_phenotype
id: HP:0003333
type: Class
comment: This enzyme removes a beta-1,4-linked N-acetylhexosamine residue from the GM2 ganglioside.
subclass of: HP_0010876
notation: HP:0003333

Elevated circulating catecholamine level
tree view: HP_0012099
IAO_0000115: An abnormal increase in catecholamine concentration in the blood.
has db xref: UMLS:C4025629
has OBO namespace: human_phenotype
id: HP:0003334
type: Class
comment: Elevated circulating catecholamine level is a common feature in patients with pheochromocytoma.
subclass of: HP_0012099
notation: HP:0003334

obsolete Low gonadotropins (secondary hypogonadism)
IAO_0000231: IAO_0000227
IAO_0100001: Hypogonadotrophic hypogonadism
IAO_0100001: HP:0000044
has OBO namespace: human_phenotype
id: HP:0003335
type: Class
deprecated: true
notation: HP:0003335

Abnormal enchondral ossification
tree view: HP_0011849
IAO_0000115: An abnormality of the process of endochondral ossification, which is a type of replacement ossification in which bone tissue replaces cartilage.
has alternative id: HP:0003331
has db xref: UMLS:C4025628
has OBO namespace: human_phenotype
id: HP:0003336
type: Class
comment: This term is intended to describe histological abnormalities of enchondral ossification observed upon bone biopsy.
subclass of: HP_0011849
notation: HP:0003336

Reduced prothrombin consumption
tree view: HP_0012200
IAO_0000115: The prothrombin consumption test measures the formation of intrinsic thromboplastin by determining the residual serum prothrombin after blood clotting is complete. If there is a defect in the process, less prothrombin will be converted to thrombin than normal (less prothrombin is consumed). This test may be abnormal with conditions including deficiency of factors VIII or IX, with circulating anticoagulants, thrombocytopenia.
has alternative id: HP:0008172
has db xref: UMLS:C4021732
has exact synonym: Poor prothrombin consumption
has OBO namespace: human_phenotype
id: HP:0003337
type: Class
subclass of: HP_0012200
notation: HP:0003337

Focal necrosis of right ventricular muscle cells
tree view: Abnormal myocardium morphology
has db xref: UMLS:C4025627
has OBO namespace: human_phenotype
id: HP:0003338
type: Class
subclass of: Abnormal myocardium morphology
notation: HP:0003338

Pyrimidine-responsive megaloblastic anemia
tree view: Megaloblastic anemia
IAO_0000115: A type of megaloblastic anemia that improves upon administration of pyrimidine supplements such as uridylic acid and cytidylic acid.
has db xref: UMLS:C4021731
has exact synonym: Anemia corrected by uridylic acid and cytidylic acid
has OBO namespace: human_phenotype
id: HP:0003339
type: Class
subclass of: Megaloblastic anemia
notation: HP:0003339

obsolete Abnormal dermatological laboratory findings
consider: HP:0000951
has OBO namespace: human_phenotype
id: HP:0003340
type: Class
deprecated: true
notation: HP:0003340

Junctional split
tree view: HP_0008066
IAO_0000115: The formation of bullae (blisters) with cleavage in the lamina lucida layer of the skin.
has db xref: UMLS:C4021730
has exact synonym: Subepidermal blistering with cleavage in the lamina lucida
has OBO namespace: human_phenotype
id: HP:0003341
type: Class
subclass of: HP_0008066
notation: HP:0003341

HP_0003342
IAO_0000231: IAO_0000227
IAO_0100001: HP_0005592
type: Class
deprecated: true
notation: HP:0003342

Reduced glutathione synthetase activity
tree view: HP_0012379
IAO_0000115: Reduced activity of the enzyme glutathione synthetase, which catalyzes the last step in the synthesis of glutathione and a deficiency results in low levels of glutathione. Acidosis is due to reduced feedback inhibition of gamma-glutamyl cysteine synthetase in the gamma-glutamyl cycle, which ultimately leads to overproduction and accumulation of 5-oxoproline.
has db xref: MSH:C536835
has db xref: SNOMEDCT_US:124706000
has db xref: SNOMEDCT_US:234589002
has db xref: SNOMEDCT_US:39112005
has db xref: UMLS:C0398746
has exact synonym: Glutathione synthetase deficiency
has OBO namespace: human_phenotype
id: HP:0003343
type: Class
subclass of: HP_0012379
notation: HP:0003343

3-Methylglutaric aciduria
tree view: 3-Methylglutaconic aciduria
has db xref: UMLS:C3151952
has exact synonym: 3-Methylglutaconicaciduria
has exact synonym: 3-methylglutaricaciduria
has OBO namespace: human_phenotype
id: HP:0003344
type: Class
subclass of: 3-Methylglutaconic aciduria
notation: HP:0003344

Elevated urinary norepinephrine
tree view: HP_0011976
IAO_0000115: An increased concentration of noradrenaline in the urine.
has db xref: UMLS:C4025626
has OBO namespace: human_phenotype
id: HP:0003345
type: Class
subclass of: HP_0011976
notation: HP:0003345

HP_0003346
IAO_0000231: IAO_0000227
IAO_0100001: Abnormality of the immune system
type: Class
deprecated: true
notation: HP:0003346

Impaired lymphocyte transformation with phytohemagglutinin
tree view: Abnormal lymphocyte morphology
IAO_0000115: Normal peripheral blood lymphocytes, when stimulated by phytohemagglutinin (PHA) are cytotoxic for homologous and heterologous cells but not for autologous cells in monolayer culture. The cytotoxic effect is thought to be indicative of the immunological competence of the lymphocytes.
has db xref: UMLS:C4025625
has OBO namespace: human_phenotype
id: HP:0003347
type: Class
comment: The response of lymphocytes to PHA is measured by their ability to transform and to undergo mitosis.
subclass of: Abnormal lymphocyte morphology
notation: HP:0003347

Hyperalaninemia
tree view: HP_0010916
IAO_0000115: An increased concentration of alanine in the blood.
has db xref: MSH:C562684
has db xref: SNOMEDCT_US:2359002
has db xref: UMLS:C0268630
has db xref: UMLS:C1839424
has db xref: UMLS:C1849489
has exact synonym: Increased blood alanine
has exact synonym: Increased serum alanine
has OBO namespace: human_phenotype
id: HP:0003348
type: Class
comment: This class referring to the clinical feature Hyperalaninemia and not to the disease entry. Normal alanine blood levels are around 350-400 micromole per liter.
subclass of: HP_0010916
notation: HP:0003348

Low cholesterol esterification rate
tree view: HP_0012379
IAO_0000115: A reduction in the rate of cholesterol esterification.
has db xref: UMLS:C1843371
has OBO namespace: human_phenotype
id: HP:0003349
type: Class
comment: Cholesterol esterification convers free cholesterol to cholesteryl esters between the carboxylate group of a fatty acid and the hydroxyl group of cholesterol. Esterification allows more cholesterol to be packaged into the interior of lipoproteins. Cholesterol esterification rates can be measured in skin fibroblasts using for instance a non-lipoprotein [3H]cholesterol source.
subclass of: HP_0012379
notation: HP:0003349

HP_0003350
IAO_0000231: IAO_0000227
IAO_0100001: Abnormality of renin-angiotensin system
type: Class
deprecated: true
notation: HP:0003350

Decreased circulating renin level
tree view: HP_0040084
IAO_0000115: An decreased level of renin (PRO:000013883) in the blood.
has alternative id: HP:0003263
has db xref: UMLS:C1845206
has exact synonym: Decreased plasma renin activity
has exact synonym: Low plasma renin activity
has exact synonym: Suppressed plasma renin activity
has OBO namespace: human_phenotype
id: HP:0003351
type: Class
subclass of: HP_0040084
notation: HP:0003351

Endopolyploidy on chromosome studies of bone marrow
tree view: Abnormality of chromosome segregation
IAO_0000115: An increase in the number of chromosome sets per cell in bone marrow cells.
has db xref: UMLS:C4025624
has OBO namespace: human_phenotype
id: HP:0003352
type: Class
comment: Endopolyploidy is caused by replication without cell division.
subclass of: Abnormality of chromosome segregation
notation: HP:0003352

Propionyl-CoA carboxylase deficiency
tree view: HP_0012379
IAO_0000115: An abnormality of amino acid metabolism characterized by a decreased rate of propionyl-CoA carboxylase activity.
has db xref: MSH:D056693
has db xref: SNOMEDCT_US:124718009
has db xref: SNOMEDCT_US:69080001
has db xref: UMLS:C0268579
has OBO namespace: human_phenotype
id: HP:0003353
type: Class
comment: Propionyl-CoA is an important intermediate in the metabolism of several amino acids and is also produced by oxidation of odd-numbered fatty acids.
subclass of: HP_0012379
notation: HP:0003353

Hyperthreoninemia
tree view: HP_0010900
IAO_0000115: An increased concentration of threonine in the blood.
has db xref: UMLS:C1848861
has exact synonym: Elevated circulating threonine
has exact synonym: High blood threonine levels
has OBO namespace: human_phenotype
id: HP:0003354
type: Class
subclass of: HP_0010900
notation: HP:0003354

Aminoaciduria
tree view: HP_0012072
IAO_0000115: An increased concentration of an amino acid in the urine.
has alternative id: HP:0002903
has alternative id: HP:0200014
has db xref: SNOMEDCT_US:35912001
has db xref: UMLS:C0238621
has db xref: UMLS:C4020843
has exact synonym: High urine amino acid levels
has exact synonym: Hyperaminoaciduria
has exact synonym: Increased levels of animo acids in urine
has OBO namespace: human_phenotype
has related synonym: Abnormal urinary amino-acid findings
id: HP:0003355
type: Class
subclass of: HP_0012072
notation: HP:0003355

HP_0003356
IAO_0000231: IAO_0000227
IAO_0100001: Hypoglycemia
type: Class
deprecated: true
notation: HP:0003356

Thymic hormone decreased
tree view: Abnormality of the thymus
IAO_0000115: A reduction in the level of thymic horomone.
has db xref: UMLS:C1857652
has exact synonym: Decreased thymic hormone
has OBO namespace: human_phenotype
id: HP:0003357
type: Class
subclass of: Abnormality of the thymus
notation: HP:0003357

Elevated intracellular cystine
tree view: HP_0011017
IAO_0000115: An increased concentration of cystine within cells. This finding can be demonstrated on leukocytes, but is not specific to blood cells.
has db xref: UMLS:C4025623
has OBO namespace: human_phenotype
id: HP:0003358
type: Class
comment: Cystine is a dimeric amino acid formed by the oxidation of two cysteine residues to form a disulfide bond.
subclass of: HP_0011017
notation: HP:0003358

Decreased urinary sulfate
tree view: HP_0012612
IAO_0000115: Decreased concentration of sulfate in the urine.
has db xref: UMLS:C1848958
has exact synonym: Decreased urinary sulfate
has OBO namespace: human_phenotype
id: HP:0003359
type: Class
subclass of: HP_0012612
notation: HP:0003359

HP_0003360
IAO_0000231: IAO_0000227
IAO_0100001: Axonal loss
type: Class
deprecated: true
notation: HP:0003360

Tryptophanuria
tree view: HP_0008353
IAO_0000115: An increased concentration of tryptophan in the urine.
has db xref: SNOMEDCT_US:18789002
has db xref: UMLS:C0268472
has exact synonym: High urine tryptophan levels
has OBO namespace: human_phenotype
id: HP:0003361
type: Class
comment: Normal urinary tryptophan total (free and combined form) excretion is around 40 mg per 24 hours.
subclass of: HP_0008353
notation: HP:0003361

Increased VLDL cholesterol concentration
tree view: HP_0010980
tree view: HP_0031889
IAO_0000115: An increase in the amount of very-low-density lipoprotein cholesterol in the blood.
has db xref: UMLS:C4021729
has exact synonym: Increased circulating very-low-density lipoprotein cholesterol
has exact synonym: Increased circulating very-low-density lipoprotein levels
has exact synonym: Increased plasma VLDL cholesterol
has OBO namespace: human_phenotype
id: HP:0003362
type: Class
subclass of: HP_0010980
subclass of: HP_0031889
notation: HP:0003362

Abdominal situs inversus
tree view: HP_0011620
IAO_0000115: A left-right reversal (or "mirror reflection") of the anatomical location of the viscera of the abdomen.
has db xref: Fyler:3816
has db xref: MSH:D012857
has db xref: SNOMEDCT_US:27317008
has db xref: SNOMEDCT_US:43876007
has db xref: UMLS:C0037221
has exact synonym: Situs inversus visceralis
has exact synonym: Situs inversus viscerum
has OBO namespace: human_phenotype
id: HP:0003363
type: Class
subclass of: HP_0011620
notation: HP:0003363

HP_0003364
IAO_0000231: IAO_0000227
IAO_0100001: Abdominal distention
type: Class
deprecated: true
notation: HP:0003364

Arthralgia of the hip
tree view: Abnormality of the hip bone
IAO_0000115: Joint pain affecting the hip.
has db xref: SNOMEDCT_US:49218002
has db xref: UMLS:C0019559
has exact synonym: Coxalgia
has exact synonym: Hip arthralgia
has exact synonym: Hip joint pain
has OBO namespace: human_phenotype
id: HP:0003365
type: Class
subclass of: Abnormality of the hip bone
notation: HP:0003365

Abnormality of the femoral neck or head region
tree view: Abnormality of femur morphology
has db xref: UMLS:C4025622
has exact synonym: Abnormal neck or head of thigh bone
has OBO namespace: human_phenotype
id: HP:0003366
type: Class
subclass of: Abnormality of femur morphology
notation: HP:0003366

Abnormality of the femoral neck
tree view: Abnormality of the femoral neck or head region
IAO_0000115: An abnormality of the femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).
has db xref: UMLS:C4025621
has exact synonym: Abnormal neck of thigh bone
has OBO namespace: human_phenotype
id: HP:0003367
type: Class
subclass of: Abnormality of the femoral neck or head region
notation: HP:0003367

Abnormality of the femoral head
tree view: Abnormality of the femoral neck or head region
IAO_0000115: An abnormality of the femoral head.
has db xref: UMLS:C4025620
has exact synonym: Abnormal head of thigh bone
has OBO namespace: human_phenotype
id: HP:0003368
type: Class
subclass of: Abnormality of the femoral neck or head region
notation: HP:0003368

HP_0003369
IAO_0000231: IAO_0000227
IAO_0100001: HP_0006429
type: Class
deprecated: true
notation: HP:0003369

Flat capital femoral epiphysis
tree view: HP_0010574
tree view: HP_0030289
IAO_0000115: An abnormal flattening of the proximal epiphysis of the femur.
has alternative id: HP:0006393
has db xref: UMLS:C1842155
has exact synonym: Flat capital femoral epiphyses
has exact synonym: Flat end part of innermost thighbone
has exact synonym: Flat femoral capital epiphyses
has exact synonym: Flat proximal femoral epiphyses
has exact synonym: Flattened proximal femoral epiphyses
has OBO namespace: human_phenotype
id: HP:0003370
type: Class
subclass of: HP_0010574
subclass of: HP_0030289
notation: HP:0003370

Enlargement of the proximal femoral epiphysis
tree view: HP_0010574
tree view: HP_0010580
IAO_0000115: An abnormal enlargement of the proximal epiphysis of the femur.
has db xref: UMLS:C1859697
has exact synonym: Enlarged capital femoral epiphyses
has exact synonym: Enlarged end part of innermost thighbone
has OBO namespace: human_phenotype
id: HP:0003371
type: Class
subclass of: HP_0010574
subclass of: HP_0010580
notation: HP:0003371

HP_0003372
IAO_0000231: IAO_0000227
IAO_0100001: HP_0006429
type: Class
deprecated: true
notation: HP:0003372

HP_0003373
IAO_0000231: IAO_0000227
IAO_0100001: HP_0008839
type: Class
deprecated: true
notation: HP:0003373

HP_0003374
IAO_0000231: IAO_0000227
IAO_0100001: Hypoplasia of the capital femoral epiphysis
type: Class
deprecated: true
notation: HP:0003374

Narrow greater sacrosciatic notches
tree view: HP_0010456
IAO_0000115: A narrowing of the sacrosciatic notch, i.e., the deep indentation in the posterior border of the hip bone at the point of union of the ilium and ischium.
has alternative id: HP:0008805
has alternative id: HP:0008813
has alternative id: HP:0008840
has alternative id: HP:0008842
has db xref: SNOMEDCT_US:289457006
has db xref: UMLS:C0566888
has exact synonym: Narrow sacrosciatic notch
has exact synonym: Narrow sciatic notches
has exact synonym: Narrowed greater sciatic notch
has exact synonym: Narrowed sacrosciatic notch
has exact synonym: Small sacrosciatic notch
has exact synonym: Small sacrosciatic notches
has OBO namespace: human_phenotype
id: HP:0003375
type: Class
subclass of: HP_0010456
notation: HP:0003375

Steppage gait
tree view: Gait disturbance
IAO_0000115: An abnormal gait pattern that arises from weakness of the pretibial and peroneal muscles due to a lower motor neuron lesion. Affected patients have footdrop and are unable to dorsiflex and evert the foot. The leg is lifted high on walking so that the toes clear the ground, and there may be a slapping noise when the foot strikes the ground again.
has db xref: MSH:D020233
has db xref: SNOMEDCT_US:27253007
has db xref: UMLS:C0427149
has exact synonym: 'steppage' gait
has exact synonym: High stepping
has OBO namespace: human_phenotype
id: HP:0003376
type: Class
subclass of: Gait disturbance
notation: HP:0003376

HP_0003377
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009027
type: Class
deprecated: true
notation: HP:0003377

Axonal degeneration/regeneration
tree view: Peripheral axonal degeneration
IAO_0000115: A pattern of simultaneous degeneration and regeneration of axons (see comment).
has db xref: UMLS:C1968790
has exact synonym: Axon degeneration and regeneration
has OBO namespace: human_phenotype
id: HP:0003378
type: Class
comment: This finding is typically demonstrated by nerve biopsy. Following focal damage to an axon, the part of the axon that is distal to the lesion invariably degenerates, a process that is known as anterograde (or Wallerian) degeneration. During Wallerian degeneration, often a microenvironment is created that can allow successful regrowth of nerve fibres from the proximal nerve segment.
subclass of: Peripheral axonal degeneration
notation: HP:0003378

HP_0003379
IAO_0000231: IAO_0000227
IAO_0100001: Decreased motor nerve conduction velocity
type: Class
deprecated: true
notation: HP:0003379

Decreased number of peripheral myelinated nerve fibers
tree view: Abnormal peripheral myelination
IAO_0000115: A loss of myelinated nerve fibers in the peripheral nervous system (in general, this finding can be observed on nerve biopsy).
has alternative id: HP:0003385
has alternative id: HP:0003386
has alternative id: HP:0007093
has alternative id: HP:0007135
has alternative id: HP:0007177
has alternative id: HP:0007320
has alternative id: HP:0007322
has db xref: UMLS:C1858285
has exact synonym: Decreased number of large and small myelinated fibers
has exact synonym: Loss of myelinated fibers
has OBO namespace: human_phenotype
id: HP:0003380
type: Class
comment: This finding can be demonstrated by nerve biopsy.
subclass of: Abnormal peripheral myelination
notation: HP:0003380

HP_0003381
IAO_0000231: IAO_0000227
IAO_0100001: HP_0011096
type: Class
deprecated: true
notation: HP:0003381

Hypertrophic nerve changes
tree view: Abnormal peripheral nervous system morphology
has db xref: UMLS:C1832776
has OBO namespace: human_phenotype
id: HP:0003382
type: Class
subclass of: Abnormal peripheral nervous system morphology
notation: HP:0003382

Onion bulb formation
tree view: Abnormal peripheral myelination
IAO_0000115: Repeated episodes of segmental demyelination and remyelination lead to the accumulation of supernumerary Schwann cells around axons, which is referred to as onion bulb formation. This finding affects peripheral nerves.
has alternative id: HP:0003389
has alternative id: HP:0007013
has alternative id: HP:0007022
has alternative id: HP:0007084
has alternative id: HP:0008276
has db xref: UMLS:C1847906
has exact synonym: 'Onion bulb' formations
has OBO namespace: human_phenotype
has related synonym: Onion bulb formations
id: HP:0003383
type: Class
comment: This feature is characteristic of chronic demyelinating neuropathies as well as certain hereditary neuropathies. Onion-bulb formation may be observed in electron microscopic examinations of peripheral nerve biopsy material. Often, this examination is performed on the sural nerve.
subclass of: Abnormal peripheral myelination
notation: HP:0003383

Peripheral axonal atrophy
tree view: Peripheral axonal degeneration
IAO_0000115: Atrophic changes of axons of the peripheral nervous system.
has db xref: UMLS:C4025619
has OBO namespace: human_phenotype
id: HP:0003384
type: Class
comment: This finding is typically demonstrated by nerve biopsy.
subclass of: Peripheral axonal degeneration
notation: HP:0003384

HP_0003385
IAO_0000231: IAO_0000227
IAO_0100001: Decreased number of peripheral myelinated nerve fibers
type: Class
deprecated: true
notation: HP:0003385

HP_0003386
IAO_0000231: IAO_0000227
IAO_0100001: Decreased number of peripheral myelinated nerve fibers
type: Class
deprecated: true
notation: HP:0003386

Decreased number of large peripheral myelinated nerve fibers
tree view: Decreased number of peripheral myelinated nerve fibers
IAO_0000115: A reduced number of large myelinated nerve fibers.
has alternative id: HP:0006868
has alternative id: HP:0007031
has alternative id: HP:0007315
has db xref: UMLS:C1859606
has exact synonym: Depletion of large myelinated fibers
has exact synonym: Loss of large myelinated fibers
has exact synonym: Loss of larger myelinated nerve fibers
has OBO namespace: human_phenotype
id: HP:0003387
type: Class
comment: This finding can be demonstrated by nerve biopsy.
subclass of: Decreased number of peripheral myelinated nerve fibers
notation: HP:0003387

Easy fatigability
tree view: Functional motor deficit
tree view: HP_0012638
IAO_0000115: Increased susceptibility to fatigue.
has broad synonym: Tired easily
has db xref: SNOMEDCT_US:248268002
has db xref: UMLS:C0424585
has db xref: UMLS:C1837098
has OBO namespace: human_phenotype
id: HP:0003388
type: Class
comment: Fatigue describes the inability to continue performing a task after multiple repetitions.
subclass of: Functional motor deficit
subclass of: HP_0012638
notation: HP:0003388

HP_0003389
IAO_0000231: IAO_0000227
IAO_0100001: Onion bulb formation
type: Class
deprecated: true
notation: HP:0003389

Sensory axonal neuropathy
tree view: Sensory neuropathy
tree view: Peripheral axonal neuropathy
IAO_0000115: An axonal neuropathy of peripheral sensory nerves.
has alternative id: HP:0006883
has alternative id: HP:0007248
has alternative id: HP:0007345
has db xref: UMLS:C1842587
has db xref: UMLS:C1970883
has exact synonym: Axonal sensory neuropathy
has OBO namespace: human_phenotype
has related synonym: Peripheral sensory axonal neuropathy
id: HP:0003390
type: Class
subclass of: Sensory neuropathy
subclass of: Peripheral axonal neuropathy
notation: HP:0003390

Gowers sign
tree view: Proximal muscle weakness
IAO_0000115: A phenomenon whereby patients are not able to stand up without the use of the hands owing to weakness of the proximal muscles of the lower limbs.
has db xref: SNOMEDCT_US:298294005
has db xref: SNOMEDCT_US:85905009
has db xref: UMLS:C0234182
has db xref: UMLS:C0575071
has exact synonym: Gower sign
has exact synonym: Positive Gower sign
has exact synonym: Positive Gowers sign
has OBO namespace: human_phenotype
id: HP:0003391
type: Class
subclass of: Proximal muscle weakness
notation: HP:0003391

First dorsal interossei muscle weakness
tree view: Distal muscle weakness
has db xref: UMLS:C1832277
has OBO namespace: human_phenotype
id: HP:0003392
type: Class
subclass of: Distal muscle weakness
notation: HP:0003392

Thenar muscle atrophy
tree view: HP_0009130
IAO_0000115: Wasting of thenar muscles, which are located on palm of the hand at the base of the thumb.
has db xref: UMLS:C1864715
has OBO namespace: human_phenotype
id: HP:0003393
type: Class
subclass of: HP_0009130
notation: HP:0003393

Muscle spasm
tree view: HP_0011804
IAO_0000115: Sudden and involuntary contractions of one or more muscles.
has alternative id: HP:0009018
has alternative id: HP:0031988
has db xref: MSH:D009120
has db xref: SNOMEDCT_US:55300003
has db xref: UMLS:C0026821
has exact synonym: Muscle cramps
has OBO namespace: human_phenotype
id: HP:0003394
type: Class
subclass of: HP_0011804
notation: HP:0003394

HP_0003395
IAO_0000231: IAO_0000227
IAO_0100001: Decreased motor nerve conduction velocity
type: Class
deprecated: true
notation: HP:0003395

Syringomyelia
tree view: HP_0100561
IAO_0000115: Dilated, glial-lined cavity in spinal cord. This cavity does not communicate with the central canal, and usually is between the dorsal columns unilaterally or bilaterally along the side of the cord.
has alternative id: HP:0006933
has db xref: MSH:D013595
has db xref: SNOMEDCT_US:111496009
has db xref: UMLS:C0039144
has exact synonym: Fluid-filled cyst in spinal cord
has exact synonym: Syrinx
has OBO namespace: human_phenotype
id: HP:0003396
type: Class
subclass of: HP_0100561
notation: HP:0003396

Generalized hypotonia due to defect at the neuromuscular junction
tree view: Generalized hypotonia
tree view: Abnormal synaptic transmission at the neuromuscular junction
has db xref: UMLS:C1853950
has OBO namespace: human_phenotype
id: HP:0003397
type: Class
subclass of: Generalized hypotonia
subclass of: Abnormal synaptic transmission at the neuromuscular junction
notation: HP:0003397

Abnormal synaptic transmission at the neuromuscular junction
tree view: HP_0030191
IAO_0000115: Any abnormality of the neuromuscular junction, which is the synapse between the motor end plate of a motor neuron and the skeletal muscle fibers.
has db xref: UMLS:C4020842
has db xref: UMLS:C4025618
has OBO namespace: human_phenotype
has related synonym: Abnormality of neuromuscular transmission
id: HP:0003398
type: Class
subclass of: HP_0030191
notation: HP:0003398

HP_0003399
IAO_0000231: IAO_0000227
IAO_0100001: Fatigable weakness
type: Class
deprecated: true
notation: HP:0003399

Basal lamina onion bulb formation
tree view: Onion bulb formation
IAO_0000115: A type of onion bulb formation prominently affecting the area of the basal lamina.
has db xref: UMLS:C1866637
has exact synonym: Basal lamina 'onion bulb' formations on nerve biopsy
has OBO namespace: human_phenotype
id: HP:0003400
type: Class
subclass of: Onion bulb formation
notation: HP:0003400

Paresthesia
tree view: Sensory neuropathy
IAO_0000115: Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause.
has alternative id: HP:0002082
has db xref: MSH:D010292
has db xref: SNOMEDCT_US:91019004
has db xref: UMLS:C0030554
has exact synonym: Paresthesias
has exact synonym: Pins and needles feeling
has exact synonym: Tingling
has OBO namespace: human_phenotype
id: HP:0003401
type: Class
subclass of: Sensory neuropathy
notation: HP:0003401

Decreased miniature endplate potentials
tree view: Abnormal synaptic transmission at the neuromuscular junction
IAO_0000115: An abnormal reduction in the amplitude of the miniature endplate potentials, i.e. the postsynaptic response to transmitter released from an individual vesicle at the neuromuscular junction.
has db xref: UMLS:C1853952
has exact synonym: Decreased MEPP
has exact synonym: Small miniature endplate currents
has exact synonym: Small miniature endplate potentials
has OBO namespace: human_phenotype
id: HP:0003402
type: Class
comment: Miniature end plate potentials are the small (about 0.5mV) depolarisations of the postsynaptic terminal caused by the release of a single vesicle into the synaptic cleft.
subclass of: Abnormal synaptic transmission at the neuromuscular junction
notation: HP:0003402

EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
tree view: HP_0100285
IAO_0000115: A compound muscle action potential (CMAP) is a type of electromyography (EMG). CMAP refers to a group of almost simultaneous action potentials from several muscle fibers in the same area evoked by stimulation of the supplying motor nerve and are recorded as one multipeaked summated action potential. This abnormality refers to a greater than normal decrease in the amplitude during the course of the investigation.
has alternative id: HP:0003430
has alternative id: HP:0003478
has db xref: UMLS:C4020841
has db xref: UMLS:C4021728
has exact synonym: EMG: decremental response of CMAP to repetitive nerve stimulation
has OBO namespace: human_phenotype
has related synonym: EMG: decrement at repetitive stimulation
id: HP:0003403
type: Class
comment: The result of this test is abnormal if progressively fewer muscle fibers respond to nerve stimulation during a train of stimuli, thereby yielding a decrementing pattern in the CMAP.
subclass of: HP_0100285
notation: HP:0003403

HP_0003404
IAO_0000231: IAO_0000227
IAO_0100001: HP_0007021
type: Class
deprecated: true
notation: HP:0003404

Diffuse axonal swelling
tree view: Abnormal peripheral nervous system morphology
has db xref: UMLS:C1865417
has OBO namespace: human_phenotype
id: HP:0003405
type: Class
subclass of: Abnormal peripheral nervous system morphology
notation: HP:0003405

Peripheral nerve compression
tree view: HP_0045010
has db xref: UMLS:C1851414
has OBO namespace: human_phenotype
id: HP:0003406
type: Class
subclass of: HP_0045010
notation: HP:0003406

HP_0003407
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009830
type: Class
deprecated: true
notation: HP:0003407

HP_0003408
IAO_0000231: IAO_0000227
IAO_0100001: Abnormal peripheral myelination
type: Class
deprecated: true
notation: HP:0003408

Distal sensory impairment of all modalities
tree view: Sensory neuropathy
has db xref: UMLS:C1836527
has exact synonym: Distal sensory loss to all modalities
has OBO namespace: human_phenotype
id: HP:0003409
type: Class
subclass of: Sensory neuropathy
notation: HP:0003409

HP_0003410
IAO_0000231: IAO_0000227
IAO_0100001: Sensory neuropathy
type: Class
deprecated: true
notation: HP:0003410

Proximal femoral metaphyseal irregularity
tree view: Abnormality of the femoral neck or head region
tree view: HP_0006431
tree view: HP_0030291
IAO_0000115: Irregularity of the normally smooth surface of the proximal metaphysis of the femur.
has db xref: UMLS:C1836320
has exact synonym: Irregular proximal femoral metaphyses
has OBO namespace: human_phenotype
id: HP:0003411
type: Class
subclass of: Abnormality of the femoral neck or head region
subclass of: HP_0006431
subclass of: HP_0030291
notation: HP:0003411

HP_0003412
IAO_0000231: IAO_0000227
IAO_0100001: Kyphoscoliosis
type: Class
deprecated: true
notation: HP:0003412

Atlantoaxial abnormality
tree view: Abnormality of the vertebral column
IAO_0000115: An anomaly of the atlantoaxial joint, i.e., of the joint between the first (atlas) and second (axis) cervical vertebrae.
has db xref: UMLS:C4025617
has OBO namespace: human_phenotype
id: HP:0003413
type: Class
subclass of: Abnormality of the vertebral column
notation: HP:0003413

Atlantoaxial dislocation
tree view: Atlantoaxial abnormality
IAO_0000115: Partial dislocation of the atlantoaxial joint.
has db xref: SNOMEDCT_US:263042007
has db xref: SNOMEDCT_US:45179004
has db xref: UMLS:C0263905
has exact synonym: Atlanto-axial subluxation
has exact synonym: Atlantoaxial subluxation
has OBO namespace: human_phenotype
id: HP:0003414
type: Class
subclass of: Atlantoaxial abnormality
notation: HP:0003414

HP_0003415
IAO_0000231: IAO_0000227
IAO_0100001: Scoliosis
type: Class
deprecated: true
notation: HP:0003415

Spinal canal stenosis
tree view: Abnormality of the vertebral column
IAO_0000115: An abnormal narrowing of the spinal canal.
has alternative id: HP:0008446
has db xref: UMLS:C1861329
has exact synonym: Narrow spinal canal
has exact synonym: Spinal stenosis
has OBO namespace: human_phenotype
id: HP:0003416
in subset: hposlim core
type: Class
comment: Stenosis of the spinal canal can result in neurological symptoms because of compression of the spinal cord or spinal nerve roots, depending on the location of the stenosis in the vertebral column.
subclass of: Abnormality of the vertebral column
notation: HP:0003416

Coronal cleft vertebrae
tree view: HP_0008428
IAO_0000115: Frontal schisis (cleft or cleavage) of vertebral bodies.
has alternative id: HP:0003673
has db xref: UMLS:C1834954
has exact synonym: Coronal clefts
has exact synonym: Coronal vertebral clefts
has exact synonym: Vertebral coronal clefts
has exact synonym: coronal cleft of vertebrae
has OBO namespace: human_phenotype
id: HP:0003417
type: Class
comment: Coronal cleft vertebrae result when there are two, instead of one, primary ossification centers in a vertebral body. An unossified cartilaginous brdige may be observed radiographically with the shape of a cleft. If the two ossification centers are ventral/dorsal, a coronal cleft is observed, and if the two ossification centers are left/right, than a sagittal cleft is observed.
subclass of: HP_0008428
notation: HP:0003417

Back pain
tree view: Abnormality of the vertebral column
tree view: HP_0012531
IAO_0000115: An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the back.
has db xref: MSH:D001416
has db xref: SNOMEDCT_US:161891005
has db xref: UMLS:C0004604
has exact synonym: Back pain
has OBO namespace: human_phenotype
id: HP:0003418
type: Class
subclass of: Abnormality of the vertebral column
subclass of: HP_0012531
notation: HP:0003418

Low back pain
tree view: Back pain
IAO_0000115: An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the lower back.
has db xref: MSH:D017116
has db xref: SNOMEDCT_US:279039007
has db xref: UMLS:C0024031
has exact synonym: Lower back pain
has OBO namespace: human_phenotype
id: HP:0003419
type: Class
subclass of: Back pain
notation: HP:0003419

HP_0003420
IAO_0000231: IAO_0000227
IAO_0100001: Irregular vertebral endplates
type: Class
deprecated: true
notation: HP:0003420

obsolete Platyspondyly (childhood)
IAO_0000231: IAO_0000227
IAO_0100001: Platyspondyly
IAO_0100001: HP:0000926
has OBO namespace: human_phenotype
id: HP:0003421
type: Class
deprecated: true
notation: HP:0003421

Vertebral segmentation defect
tree view: Abnormal vertebral morphology
IAO_0000115: An abnormality related to a defect of vertebral separation during development.
has alternative id: HP:0005705
has db xref: SNOMEDCT_US:205455005
has db xref: UMLS:C0432163
has exact synonym: Abnormal spinal segmentation
has OBO namespace: human_phenotype
id: HP:0003422
in subset: hposlim core
type: Class
comment: The vertebral column derives from somites, transient paired segments of mesoderm that surround the neural tube in the early embryo. The formation of the vertebrar involves many processes including resegmentation of the rostral and caudal regions of adjacent somites that then fuse to form vertebral elements. Disruption of these processes can a cause of severe segmentation defects of the vetebrae. The frequency of segmentation defects of the vetebra has been estimated at 0.5 of 1000 births. The range of segmentation defects includes left-right uneven formation of somites that results in hemivertebrae or wedge vertebrae. Incomplete segmentation can result in fused segments such as block vertebrae. A failure of the process of resegmentation and migration of the sclerotomal compartment can result in a failure of midline fusion, such as butterlfy vertebrae.
subclass of: Abnormal vertebral morphology
notation: HP:0003422

Thoracolumbar kyphoscoliosis
tree view: Kyphoscoliosis
tree view: Thoracolumbar scoliosis
tree view: HP_0005619
has db xref: UMLS:C1859335
has exact synonym: Dorsolumbar kyphosis
has OBO namespace: human_phenotype
id: HP:0003423
type: Class
subclass of: Kyphoscoliosis
subclass of: Thoracolumbar scoliosis
subclass of: HP_0005619
notation: HP:0003423

HP_0003424
IAO_0000231: IAO_0000227
IAO_0100001: Kyphoscoliosis
type: Class
deprecated: true
notation: HP:0003424

HP_0003425
IAO_0000231: IAO_0000227
IAO_0100001: Segmental peripheral demyelination/remyelination
type: Class
deprecated: true
notation: HP:0003425

First dorsal interossei muscle atrophy
tree view: HP_0007181
has db xref: UMLS:C1832278
has OBO namespace: human_phenotype
id: HP:0003426
type: Class
subclass of: HP_0007181
notation: HP:0003426

Thenar muscle weakness
tree view: HP_0030237
has db xref: UMLS:C1832276
has OBO namespace: human_phenotype
id: HP:0003427
type: Class
subclass of: HP_0030237
notation: HP:0003427

HP_0003428
IAO_0000231: IAO_0000227
IAO_0100001: Fatigable weakness
type: Class
deprecated: true
notation: HP:0003428

CNS hypomyelination
tree view: HP_0011400
IAO_0000115: Reduced amount of myelin in the central nervous system resulting from defective myelinogenesis.
has db xref: SNOMEDCT_US:111007000
has db xref: UMLS:C0544820
has db xref: UMLS:C4025616
has OBO namespace: human_phenotype
has related synonym: hypomyelination
id: HP:0003429
type: Class
subclass of: HP_0011400
notation: HP:0003429

HP_0003430
IAO_0000231: IAO_0000227
IAO_0100001: EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
type: Class
deprecated: true
notation: HP:0003430

Decreased motor nerve conduction velocity
tree view: Decreased nerve conduction velocity
tree view: HP_0040131
IAO_0000115: A type of decreased nerve conduction velocity that affects the motor neuron.
has alternative id: HP:0000760
has alternative id: HP:0003379
has alternative id: HP:0003395
has alternative id: HP:0003437
has alternative id: HP:0006907
has alternative id: HP:0008170
has db xref: UMLS:C1858729
has exact synonym: Decreased motor NCV
has exact synonym: Decreased motor nerve conduction velocities
has exact synonym: Reduced motor nerve conduction velocity
has OBO namespace: human_phenotype
id: HP:0003431
type: Class
comment: Newborn infants have values that are approximately half that of adults, and adult values are normally reached by age 3 or 4. Motor nerve conduction is evaluated by recording the compound muscle action potential (CMAP) associated with a mechanical contraction of a given muscle in response to electrical stimulation of the motor nerve fibers supplying that muscle. The CMAP is the sum of all the action potentials occurring individually in the contracting muscle fibers.
subclass of: Decreased nerve conduction velocity
subclass of: HP_0040131
notation: HP:0003431

HP_0003432
IAO_0000231: IAO_0000227
IAO_0100001: Proximal muscle weakness
type: Class
deprecated: true
notation: HP:0003432

HP_0003433
IAO_0000231: IAO_0000227
IAO_0100001: Myelin outfoldings
type: Class
deprecated: true
notation: HP:0003433

Sensory ataxic neuropathy
tree view: Sensory neuropathy
has db xref: UMLS:C1843859
has OBO namespace: human_phenotype
id: HP:0003434
type: Class
subclass of: Sensory neuropathy
notation: HP:0003434

Cold-induced hand cramps
tree view: Cold-induced muscle cramps
has db xref: UMLS:C1832279
has OBO namespace: human_phenotype
id: HP:0003435
type: Class
subclass of: Cold-induced muscle cramps
notation: HP:0003435

Prolonged miniature endplate currents
tree view: Abnormal synaptic transmission at the neuromuscular junction
IAO_0000115: An abnormal prolongation of the miniature endplate potentials, i.e. the postsynaptic response to transmitter released from an individual vesicle at the neuromuscular junction.
has alternative id: HP:0003479
has db xref: UMLS:C1864238
has exact synonym: Prolonged MEPC
has exact synonym: Prolonged MEPP
has exact synonym: Prolonged miniature endplate potentials
has OBO namespace: human_phenotype
id: HP:0003436
type: Class
subclass of: Abnormal synaptic transmission at the neuromuscular junction
notation: HP:0003436

HP_0003437
IAO_0000231: IAO_0000227
IAO_0100001: Decreased motor nerve conduction velocity
type: Class
deprecated: true
notation: HP:0003437

Absent Achilles reflex
tree view: HP_0200101
IAO_0000115: Absence of the Achilles reflex (also known as the ankle jerk reflex), which can normally be elicited by tapping the tendon is tapped while the foot is dorsiflexed.
has alternative id: HP:0007032
has alternative id: HP:0007241
has db xref: MSH:D012021
has db xref: SNOMEDCT_US:274818004
has db xref: UMLS:C0558845
has exact synonym: Absent ankle reflexes
has OBO namespace: human_phenotype
id: HP:0003438
type: Class
subclass of: HP_0200101
notation: HP:0003438

HP_0003439
IAO_0000231: IAO_0000227
IAO_0100001: HP_0005619
type: Class
deprecated: true
notation: HP:0003439

Horizontal sacrum
tree view: HP_0005107
has db xref: UMLS:C1850558
has OBO namespace: human_phenotype
id: HP:0003440
in subset: hposlim core
type: Class
subclass of: HP_0005107
notation: HP:0003440

HP_0003441
IAO_0000231: IAO_0000227
IAO_0100001: Bulbar palsy
type: Class
deprecated: true
notation: HP:0003441

HP_0003442
IAO_0000231: IAO_0000227
IAO_0100001: HP_0008944
type: Class
deprecated: true
notation: HP:0003442

Decreased size of nerve terminals
tree view: Abnormal peripheral nervous system morphology
IAO_0000115: A reduction in the size of nerve terminals.
has db xref: UMLS:C4025615
has OBO namespace: human_phenotype
id: HP:0003443
type: Class
comment: Nerve terminals are the output region of nerves located presynaptically and (in the case of chemical synapses) containing vesicles of chemical neurotransmitters. Presynaptic nerve terminals normally are larger in diameter than the axon and have the appearance of a bud. This feature can be demonstrated by muscle biopsy.
subclass of: Abnormal peripheral nervous system morphology
notation: HP:0003443

EMG: chronic denervation signs
tree view: EMG: neuropathic changes
IAO_0000115: Evidence of chronic denervation on electromyography.
has alternative id: HP:0007059
has db xref: UMLS:C4025614
has OBO namespace: human_phenotype
id: HP:0003444
type: Class
comment: This is a bundled term that is kept for convenience. It is preferable to annotate the precise clinical abnormalities observed.
subclass of: EMG: neuropathic changes
notation: HP:0003444

EMG: neuropathic changes
tree view: EMG abnormality
IAO_0000115: The presence of characteristic findings of denervation on electromyography (fibrillations, positive sharp waves, and giant motor unit potentials).
has alternative id: HP:0002178
has alternative id: HP:0002547
has alternative id: HP:0007279
has db xref: UMLS:C4021727
has exact synonym: EMG: neurogenic abnormalities
has exact synonym: EMG: neurogenic changes
has exact synonym: EMG: neurogenic findings
has OBO namespace: human_phenotype
id: HP:0003445
type: Class
comment: This is a bundled term. It is preferable to annotate the precise clinical observations, but the term is kept now for convenience.
subclass of: EMG abnormality
notation: HP:0003445

HP_0003446
IAO_0000231: IAO_0000227
IAO_0100001: HP_0007267
type: Class
deprecated: true
notation: HP:0003446

Axonal loss
tree view: Peripheral axonal degeneration
IAO_0000115: A reduction in the number of axons in the peripheral nervous system.
has alternative id: HP:0003360
has db xref: UMLS:C1832338
has OBO namespace: human_phenotype
id: HP:0003447
type: Class
comment: This finding can be observed upon nerve biopsy.
subclass of: Peripheral axonal degeneration
notation: HP:0003447

Decreased sensory nerve conduction velocity
tree view: Decreased nerve conduction velocity
tree view: HP_0040132
IAO_0000115: Reduced speed of conduction of the action potential along a sensory nerve.
has alternative id: HP:0006914
has db xref: UMLS:C1849148
has exact synonym: Decreased sensory NCV
has exact synonym: Decreased sensory nerve conduction velocities
has OBO namespace: human_phenotype
id: HP:0003448
type: Class
comment: The sensory nerve action potential (SNAP) in response to electrical stimulation is recorded from the nerve itself by means of dermal recording electrodes. The SNAP is the sum of all the action potentials generated in sensory nerve fibres by the applied electrical impulse.
subclass of: Decreased nerve conduction velocity
subclass of: HP_0040132
notation: HP:0003448

Cold-induced muscle cramps
tree view: Muscle spasm
IAO_0000115: Sudden and involuntary contractions of one or more muscles brought on by exposure to cold temperatures.
has db xref: UMLS:C1861675
has OBO namespace: human_phenotype
id: HP:0003449
type: Class
subclass of: Muscle spasm
notation: HP:0003449

Axonal regeneration
tree view: Peripheral axonal degeneration
IAO_0000115: The presence of axonal regeneration following a previous axonal lesion.
has db xref: UMLS:C1854454
has exact synonym: Regenerative activity on nerve biopsy
has OBO namespace: human_phenotype
id: HP:0003450
type: Class
comment: This finding is typically demonstrated by nerve biopsy. See the comment of term HP:0003378 for further information.
subclass of: Peripheral axonal degeneration
notation: HP:0003450

Increased rate of premature chromosome condensation
tree view: HP_0011019
IAO_0000115: An increased rate of premature chromosome condensation.
has db xref: UMLS:C4025613
has OBO namespace: human_phenotype
id: HP:0003451
type: Class
subclass of: HP_0011019
notation: HP:0003451

Increased serum iron
tree view: HP_0040130
has db xref: SNOMEDCT_US:165624002
has db xref: UMLS:C0151900
has OBO namespace: human_phenotype
id: HP:0003452
type: Class
subclass of: HP_0040130
notation: HP:0003452

Antineutrophil antibody positivity
tree view: HP_0030057
IAO_0000115: The presence of autoantibodies in the serum that react against neutrophils.
has db xref: UMLS:C1858981
has exact synonym: Antineutrophil antibodies
has exact synonym: Neutrophil antibody positive
has OBO namespace: human_phenotype
id: HP:0003453
type: Class
comment: Circulating serum antibodies are measured by flow cytometry after incubation with normal neutrophils. Values greater than 2 standard deviations of a normal control population are interpreted as weakly positive and greater than 3 standard deviations as positive.
subclass of: HP_0030057
notation: HP:0003453

Platelet antibody positive
tree view: HP_0030057
IAO_0000115: The presence in the serum of autoantibodies directed against thrombocytes.
has db xref: UMLS:C1858980
has exact synonym: Platelet antibody
has OBO namespace: human_phenotype
id: HP:0003454
type: Class
subclass of: HP_0030057
notation: HP:0003454

Elevated circulating long chain fatty acid concentration
tree view: HP_0010964
IAO_0000115: Increased concentration of long-chain fatty acids in the blood circulation.
has alternative id: HP:0008333
has alternative id: HP:0045016
has db xref: UMLS:C1859241
has exact synonym: Elevated long chain fatty acids
has exact synonym: Elevated serum long-chain fatty acids
has exact synonym: Increased serum long-chain fatty acids
has OBO namespace: human_phenotype
id: HP:0003455
type: Class
comment: This feature can be measured in plasma, as well as in cultured fibroblasts of amniocytes.
subclass of: HP_0010964
notation: HP:0003455

Low urinary cyclic AMP response to PTH administration
tree view: Abnormality of urine homeostasis
has db xref: UMLS:C1864105
has OBO namespace: human_phenotype
id: HP:0003456
type: Class
subclass of: Abnormality of urine homeostasis
notation: HP:0003456

EMG abnormality
tree view: HP_0011804
IAO_0000115: Abnormal results of investigations using electromyography (EMG).
has alternative id: HP:0002177
has alternative id: HP:0003751
has alternative id: HP:0003753
has alternative id: HP:0100286
has db xref: SNOMEDCT_US:274523007
has db xref: UMLS:C0476403
has exact synonym: Abnormal EMG
has exact synonym: Abnormal electromyography finding
has exact synonym: EMG abnormalities
has exact synonym: Electromyogram abnormal
has OBO namespace: human_phenotype
id: HP:0003457
type: Class
subclass of: HP_0011804
notation: HP:0003457

EMG: myopathic abnormalities
tree view: Myopathy
tree view: EMG abnormality
IAO_0000115: The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials.
has alternative id: HP:0003322
has alternative id: HP:0003711
has alternative id: HP:0009021
has db xref: UMLS:C4021726
has exact synonym: EMG: myopathic changes
has exact synonym: EMG: myopathy
has exact synonym: Myopathic electromyogram
has OBO namespace: human_phenotype
id: HP:0003458
type: Class
subclass of: Myopathy
subclass of: EMG abnormality
notation: HP:0003458

Polyclonal elevation of IgM
tree view: Increased circulating IgM level
IAO_0000115: A heterogeneous increase in IgM immunoglobulins characterized by a diffuse band on serum electrophoresis.
has db xref: UMLS:C4025612
has OBO namespace: human_phenotype
id: HP:0003459
type: Class
subclass of: Increased circulating IgM level
notation: HP:0003459

Decreased circulating total IgA
tree view: Decreased circulating IgA level
IAO_0000115: Undetectable serum immunoglobulin A level at a value < 5 mg/dL (0.05 g/L).
has db xref: UMLS:C4025611
has exact synonym: Decreased total IgA in blood
has exact synonym: Total immunoglobulin A deficiency
has OBO namespace: human_phenotype
id: HP:0003460
type: Class
subclass of: Decreased circulating IgA level
notation: HP:0003460

Increased urinary O-linked sialopeptides
tree view: HP_0012067
IAO_0000115: Excretion of peptides conjugated to sialic acid in the urine.
has db xref: UMLS:C1836533
has OBO namespace: human_phenotype
id: HP:0003461
type: Class
subclass of: HP_0012067
notation: HP:0003461

Elevated 8-dehydrocholesterol
tree view: Abnormal circulating cholesterol concentration
has db xref: UMLS:C1840013
has OBO namespace: human_phenotype
id: HP:0003462
type: Class
subclass of: Abnormal circulating cholesterol concentration
notation: HP:0003462

Increased extraneuronal autofluorescent lipopigment
tree view: HP_0011813
IAO_0000115: Lipofuscin, a generic term applied to autofluorescent lipopigment, is a mixture of protein and lipid that accumulates in most aging cells, particularly those involved in high lipid turnover (e.g., the adrenal medulla) or phagocytosis of other cell types (e g., the retinal pigment epithelium or RPE; macrophage). This term pertains if there is an increase in the extraneuronal accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient.
has db xref: UMLS:C1859828
has OBO namespace: human_phenotype
has related synonym: Lipopigment in extraneuronal cells
id: HP:0003463
type: Class
subclass of: HP_0011813
notation: HP:0003463

obsolete Abnormal cholesterol homeostasis
IAO_0000231: IAO_0000227
IAO_0100001: Abnormal circulating cholesterol concentration
IAO_0100001: HP:0003107
has OBO namespace: human_phenotype
id: HP:0003464
type: Class
deprecated: true
notation: HP:0003464

Elevated 8(9)-cholestenol
tree view: Abnormal circulating cholesterol concentration
has db xref: UMLS:C1840014
has OBO namespace: human_phenotype
id: HP:0003465
type: Class
subclass of: Abnormal circulating cholesterol concentration
notation: HP:0003465

Paradoxical increased cortisol secretion on dexamethasone suppression test
tree view: HP_0011731
has db xref: UMLS:C1968855
has OBO namespace: human_phenotype
id: HP:0003466
type: Class
subclass of: HP_0011731
notation: HP:0003466

Atlantoaxial instability
tree view: Atlantoaxial abnormality
IAO_0000115: Abnormally increased movement at the junction between the first cervical (atlas) and the second cervical (axis) vertebrae as a result of either a bony or ligamentous anomaly.
has db xref: SNOMEDCT_US:202820009
has db xref: UMLS:C0410653
has OBO namespace: human_phenotype
id: HP:0003467
in subset: hposlim core
type: Class
comment: Neurological deficits ensue if the odontoid process, or posterior arch of the atlas, impinges on the spinal cord.
subclass of: Atlantoaxial abnormality
notation: HP:0003467

Abnormal vertebral morphology
tree view: Abnormality of the vertebral column
IAO_0000115: An abnormality of one or more of the vertebrae.
has alternative id: HP:0005719
has db xref: Fyler:4108
has db xref: SNOMEDCT_US:205043005
has db xref: SNOMEDCT_US:74877002
has db xref: UMLS:C0158775
has db xref: UMLS:C4020839
has db xref: UMLS:C4020840
has exact synonym: Abnormal vertebrae
has exact synonym: Abnormality of the vertebrae
has exact synonym: Vertebral anomalies
has OBO namespace: human_phenotype
has related synonym: Abnormal vertebral bodies
has related synonym: Multiple vertebral anomalies
id: HP:0003468
type: Class
comment: A vertebra is one of 33 bony segments that form the spinal column of humans. There are 7 cervical, 12 thoracic, 5 lumbar, 5 sacral and 4 coccygeal vertebrae (the coccygeal vertebrae are fused into one coccyx bone).
subclass of: Abnormality of the vertebral column
notation: HP:0003468

Peripheral dysmyelination
tree view: Abnormal peripheral myelination
IAO_0000115: Defective structure and function of myelin sheaths. Dysmyelination is distinguished from demyleination where there is destruction or damage of previously normal myelination.
has db xref: UMLS:C4025610
has OBO namespace: human_phenotype
id: HP:0003469
type: Class
subclass of: Abnormal peripheral myelination
notation: HP:0003469

Paralysis
tree view: HP_0011442
IAO_0000115: Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Motor paralysis results from deficits of the upper motor neurons (corticospinal, corticobulbar, or subcorticospinal). Motor paralysis is often accompanied by an impairment in the facility of movement.
has db xref: MSH:D010243
has db xref: SNOMEDCT_US:44695005
has db xref: UMLS:C0522224
has exact synonym: Inability to move
has exact synonym: Paralysis
has OBO namespace: human_phenotype
id: HP:0003470
type: Class
subclass of: HP_0011442
notation: HP:0003470

HP_0003471
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009129
type: Class
deprecated: true
notation: HP:0003471

Hypocalcemic tetany
tree view: Hypocalcemia
tree view: HP_0012638
IAO_0000115: Hyperexcitability of the neuromuscular system related to abnormally low level of calcium in the blood, resulting in carpopedal or generalized spasms.
has db xref: SNOMEDCT_US:190869004
has db xref: UMLS:C0151940
has OBO namespace: human_phenotype
id: HP:0003472
type: Class
subclass of: Hypocalcemia
subclass of: HP_0012638
notation: HP:0003472

Fatigable weakness
tree view: Muscle weakness
tree view: Abnormal synaptic transmission at the neuromuscular junction
IAO_0000115: A type of weakness that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.
has alternative id: HP:0003399
has alternative id: HP:0003428
has alternative id: HP:0100794
has db xref: UMLS:C0947912
has exact synonym: Fatigable weakness of limb muscles
has exact synonym: Generalized muscle weakness due to defect at the neuromuscular junction
has exact synonym: Myasthenia
has exact synonym: Myasthenic weakness
has exact synonym: Proximal muscle weakness due to defect at the neuromuscular junction
has OBO namespace: human_phenotype
id: HP:0003473
type: Class
comment: This type of weakness is pathognomonic for an abnormality of the neuromuscular junction such as myasthenia gravis. A characteristic form of muscular weakness that worsens after use of affected muscles. Myasthenia is caused by failure of neuromuscular transmission, which results from the binding of autoantibodies to proteins involved in signaling at the neuromuscular junction, including especially the nicotinic acetyl choline receptor (AChR) or, less frequently, a muscle-specific tyrosine kinase involved in AChR clustering.
subclass of: Muscle weakness
subclass of: Abnormal synaptic transmission at the neuromuscular junction
notation: HP:0003473

Sensory impairment
tree view: HP_0009830
IAO_0000115: An abnormality of the primary sensation that is mediated by peripheral nerves (pain, temperature, touch, vibration, joint position). The word hypoesthesia (or hypesthesia) refers to a reduction in cutaneous sensation to a specific type of testing.
has alternative id: HP:0100964
has db xref: MSH:D006987
has db xref: SNOMEDCT_US:397974008
has db xref: SNOMEDCT_US:398026008
has db xref: SNOMEDCT_US:59073000
has db xref: UMLS:C0020580
has exact synonym: Hypoaesthesia
has exact synonym: Hypoesthesia
has OBO namespace: human_phenotype
id: HP:0003474
type: Class
comment: This term does not include abnormalities of cortical sensation such as two-point discrimination, stereognosis, and graphesthesia.
subclass of: HP_0009830
notation: HP:0003474

HP_0003475
IAO_0000231: IAO_0000227
IAO_0100001: Proximal muscle weakness
type: Class
deprecated: true
notation: HP:0003475

HP_0003476
IAO_0000231: IAO_0000227
IAO_0100001: Distal sensory impairment
type: Class
deprecated: true
notation: HP:0003476

Peripheral axonal neuropathy
tree view: Peripheral axonal degeneration
tree view: HP_0009830
IAO_0000115: An abnormality characterized by disruption of the normal functioning of peripheral axons.
has alternative id: HP:0006814
has alternative id: HP:0006842
has alternative id: HP:0007169
has alternative id: HP:0008304
has db xref: SNOMEDCT_US:128208007
has db xref: SNOMEDCT_US:60703000
has db xref: UMLS:C0270921
has db xref: UMLS:C1263857
has exact synonym: Axonal neuropathy
has exact synonym: Axonal peripheral neuropathy
has OBO namespace: human_phenotype
id: HP:0003477
type: Class
comment: This abnormality can be assay by electromyography (EMG) or by nerve biopsy.
subclass of: Peripheral axonal degeneration
subclass of: HP_0009830
notation: HP:0003477

HP_0003478
IAO_0000231: IAO_0000227
IAO_0100001: EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
type: Class
deprecated: true
notation: HP:0003478

HP_0003479
IAO_0000231: IAO_0000227
IAO_0100001: Prolonged miniature endplate currents
type: Class
deprecated: true
notation: HP:0003479

HP_0003480
IAO_0000231: IAO_0000227
IAO_0100001: Abnormal cranial nerve morphology
type: Class
deprecated: true
notation: HP:0003480

Segmental peripheral demyelination/remyelination
tree view: HP_0011096
IAO_0000115: A segmental pattern of demyelination and regeneration (remyelination) affecting peripheral nerves.
has alternative id: HP:0003425
has db xref: UMLS:C1843077
has exact synonym: Segmental demyelination/remyelination
has OBO namespace: human_phenotype
id: HP:0003481
type: Class
subclass of: HP_0011096
notation: HP:0003481

EMG: axonal abnormality
tree view: EMG abnormality
IAO_0000115: Electromyographic (EMG) findings characteristic of axonal neuropathy, with normal or slightly decreased nerve conduction velocities, normal or slightly prolonged distal latencies, but significantly reduced motor potentials and sensory amplitudes. There may be spontaneous activity upon needle EMG studies, such as increased insertional activity, positive sharp waves, and fibrillation potentials.
has db xref: UMLS:C4025609
has OBO namespace: human_phenotype
id: HP:0003482
type: Class
comment: This is a bundled term that is kept for convenience. It is preferable to record the precise clinical observations.
subclass of: EMG abnormality
notation: HP:0003482

HP_0003483
IAO_0000231: IAO_0000227
IAO_0100001: Abnormal peripheral nervous system morphology
type: Class
deprecated: true
notation: HP:0003483

Upper limb muscle weakness
tree view: Limb muscle weakness
IAO_0000115: Weakness of the muscles of the arms.
has db xref: SNOMEDCT_US:713512009
has db xref: UMLS:C1698196
has exact synonym: Decreased arm strength
has exact synonym: Weak arm
has OBO namespace: human_phenotype
id: HP:0003484
type: Class
subclass of: Limb muscle weakness
notation: HP:0003484

HP_0003485
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009053
type: Class
deprecated: true
notation: HP:0003485

HP_0003486
IAO_0000231: IAO_0000227
IAO_0100001: Distal amyotrophy
type: Class
deprecated: true
notation: HP:0003486

Babinski sign
tree view: HP_0007256
tree view: HP_0031828
IAO_0000115: Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract.
has alternative id: HP:0001352
has db xref: SNOMEDCT_US:246586009
has db xref: SNOMEDCT_US:366575004
has db xref: UMLS:C0034935
has exact synonym: Extensor plantar reflexes
has exact synonym: Extensor plantar response
has exact synonym: Extensor plantar responses
has OBO namespace: human_phenotype
id: HP:0003487
type: Class
comment: A positive Babinski sign can indicate damage to the corticospinal tract.
subclass of: HP_0007256
subclass of: HP_0031828
notation: HP:0003487

HP_0003488
IAO_0000231: IAO_0000227
IAO_0100001: HP_0007256
type: Class
deprecated: true
notation: HP:0003488

Acute episodes of neuropathic symptoms
tree view: HP_0009830
has db xref: UMLS:C1867971
has OBO namespace: human_phenotype
id: HP:0003489
type: Class
comment: Neuropathic symptoms include numbness, dysesthesias, and a characteristic form of pain (neuralgia).
subclass of: HP_0009830
notation: HP:0003489

obsolete Defective dehydrogenation of isovaleryl CoA and butyryl CoA
IAO_0000231: IAO_0000227
IAO_0100001: Glutaric aciduria
IAO_0100001: HP:0003150
has OBO namespace: human_phenotype
id: HP:0003490
type: Class
deprecated: true
notation: HP:0003490

Elevated urine pyrophosphate
tree view: Abnormality of urine homeostasis
IAO_0000115: An abnormally increased diphosphate(4-) concentration in the urine. Diphosphate(4-), as ester with two phosphate groups, is also known as pyrophosphate.
has db xref: UMLS:C4025607
has OBO namespace: human_phenotype
id: HP:0003491
type: Class
subclass of: Abnormality of urine homeostasis
notation: HP:0003491

High urinary gonadotropin level
tree view: HP_0012029
IAO_0000115: An elevated concentration of a gonadotropin hormone (stimulating hormone or luteinizing hormone) in the urine, consistent with the diagnosis of primary hypogonadism.
has db xref: UMLS:C4025606
has OBO namespace: human_phenotype
id: HP:0003492
type: Class
comment: 'has part' some ('increased amount' and ('inheres in' some ('Gonadotropin (adult human)' and ('part of' some urine))) and ('has modifier' some abnormal))
subclass of: HP_0012029
notation: HP:0003492

Antinuclear antibody positivity
tree view: HP_0030057
IAO_0000115: The presence of autoantibodies in the serum that react against nuclei or nuclear components.
has db xref: SNOMEDCT_US:165850001
has db xref: UMLS:C0151480
has exact synonym: Antinuclear antibodies
has exact synonym: Antinuclear antibody positive
has exact synonym: Elevated antinuclear antibody
has exact synonym: Serum antinuclear antibody
has OBO namespace: human_phenotype
id: HP:0003493
type: Class
comment: Antinuclear antibodies (ANAs) are found in patients with a number of different autoimmune diseases, such as systemic lupus erythematosus, Sjogren's syndrome, rheumatoid arthritis, polymyositis, scleroderma, Hashimoto's thyroiditis, juvenile diabetes mellitus, Addison disease, vitiligo, pernicious anemia, glomerulonephritis, and pulmonary fibrosis. ANAs can display various staining patterns such as homogeneous or diffuse; speckled; nucleolar; and peripheral or rim.
subclass of: HP_0030057
notation: HP:0003493

obsolete Loss of heterozygosity, multiple chromosomes
consider: HP:0001428
has OBO namespace: human_phenotype
id: HP:0003494
type: Class
deprecated: true
notation: HP:0003494

GM2-ganglioside accumulation
tree view: Ganglioside accumulation
IAO_0000115: Cellular accumulation of GM2 gangliosides.
has db xref: UMLS:C1848920
has OBO namespace: human_phenotype
id: HP:0003495
type: Class
comment: Gangliosides are the main glycolipids of neuronal cell plasma membranes which ensure normal cellular activities. GM2-gangliosidosis can be caused by mutations in three genes: HEXA, HEXB, and GM2A. In patients with HexA deficiency GM2 ganglioside accumulates inside lysosomes, which form characteristic inclusions within the cells, so called membranous cytoplasmic bodies, which are enlarged lysosomes filled with gangliosides. The highest concentration of GM2 ganglioside is found in neuronal cells, therefore, the HexA deficiency primarily affects the nervous system, causing mental and motor developmental delay in patients. Later, progressive destruction of neurons, proliferation of microglia and accumulation of complex lipids in macrophages are observed in the brain tissue.
subclass of: Ganglioside accumulation
notation: HP:0003495

Increased circulating IgM level
tree view: HP_0010702
tree view: HP_0410243
IAO_0000115: An abnormally increased level of immunoglobulin M in blood.
has alternative id: HP:0002962
has db xref: UMLS:C1839972
has exact synonym: Increased IgM levels
has exact synonym: Increased levels of IgM
has OBO namespace: human_phenotype
id: HP:0003496
type: Class
subclass of: HP_0010702
subclass of: HP_0410243
notation: HP:0003496

HP_0003497
IAO_0000231: IAO_0000227
IAO_0100001: Distal muscle weakness
type: Class
deprecated: true
notation: HP:0003497

Disproportionate short stature
tree view: Short stature
IAO_0000115: A kind of short stature in which different regions of the body are shortened to differing extents.
has alternative id: HP:0008895
has alternative id: HP:0008900
has db xref: UMLS:C0878659
has db xref: UMLS:C1846797
has exact synonym: Short stature, disproportionate
has OBO namespace: human_phenotype
has related synonym: Short stature, severe disproportionate
id: HP:0003498
type: Class
subclass of: Short stature
notation: HP:0003498

HP_0003499
IAO_0000231: IAO_0000227
IAO_0100001: Proportionate short stature
type: Class
deprecated: true
notation: HP:0003499

HP_0003500
IAO_0000231: IAO_0000227
IAO_0100001: Disproportionate short-trunk short stature
type: Class
deprecated: true
notation: HP:0003500

HP_0003501
IAO_0000231: IAO_0000227
IAO_0100001: Short stature
type: Class
deprecated: true
notation: HP:0003501

Mild short stature
tree view: Proportionate short stature
IAO_0000115: A mild degree of short stature, more than -2 SD but not more than -3 SD from mean corrected for age and sex.
has alternative id: HP:0003503
has alternative id: HP:0008879
has alternative id: HP:0008908
has db xref: UMLS:C3150077
has db xref: UMLS:C4020838
has exact synonym: short stature, mild
has OBO namespace: human_phenotype
has related synonym: Relative short stature
id: HP:0003502
type: Class
subclass of: Proportionate short stature
notation: HP:0003502

HP_0003503
IAO_0000231: IAO_0000227
IAO_0100001: Mild short stature
type: Class
deprecated: true
notation: HP:0003503

HP_0003504
IAO_0000231: IAO_0000227
IAO_0100001: Severe short stature
type: Class
deprecated: true
notation: HP:0003504

HP_0003505
IAO_0000231: IAO_0000227
IAO_0100001: HP_0008873
type: Class
deprecated: true
notation: HP:0003505

HP_0003506
IAO_0000231: IAO_0000227
IAO_0100001: HP_0008909
type: Class
deprecated: true
notation: HP:0003506

HP_0003507
IAO_0000231: IAO_0000227
IAO_0100001: Short stature
type: Class
deprecated: true
notation: HP:0003507

Proportionate short stature
tree view: Short stature
IAO_0000115: A kind of short stature in which different regions of the body are shortened to a comparable extent.
has alternative id: HP:0003499
has db xref: UMLS:C0878660
has exact synonym: Proportionate small stature
has exact synonym: Short stature, proportionate
has OBO namespace: human_phenotype
id: HP:0003508
type: Class
subclass of: Short stature
notation: HP:0003508

HP_0003509
IAO_0000231: IAO_0000227
IAO_0100001: HP_0008873
type: Class
deprecated: true
notation: HP:0003509

Severe short stature
tree view: Proportionate short stature
IAO_0000115: A severe degree of short stature, more than -4 SD from the mean corrected for age and sex.
has alternative id: HP:0001424
has alternative id: HP:0001516
has alternative id: HP:0003504
has alternative id: HP:0008867
has alternative id: HP:0008884
has alternative id: HP:0008907
has alternative id: HP:0008920
has alternative id: HP:0008930
has db xref: MSH:D004392
has db xref: SNOMEDCT_US:237836003
has db xref: SNOMEDCT_US:237837007
has db xref: SNOMEDCT_US:422065006
has db xref: UMLS:C0013336
has exact synonym: Dwarfism
has exact synonym: Proportionate dwarfism
has exact synonym: Severe short stature
has exact synonym: Short stature, extreme
has exact synonym: Short stature, severe
has OBO namespace: human_phenotype
id: HP:0003510
type: Class
comment: The term severe short stature is to be preferred over dwarfism, which has been used in the past to refer to individuals with an adult height under 4 feet 10 inches (147 cm).
subclass of: Proportionate short stature
notation: HP:0003510

HP_0003511
IAO_0000231: IAO_0000227
IAO_0100001: Disproportionate tall stature
type: Class
deprecated: true
notation: HP:0003511

HP_0003512
IAO_0000231: IAO_0000227
IAO_0100001: Short stature
type: Class
deprecated: true
notation: HP:0003512

Reduced ratio of renal calcium clearance to creatinine clearance
tree view: HP_0011280
IAO_0000115: A reduction of the ratio of renal calcium clearance to creatinine clearance to below 0.01.
has db xref: UMLS:C4025605
has exact synonym: Reduced ration of kidney calcium clearance to creatinine clearance
has exact synonym: Reduced ration of renal Ca clearance to creatinine clearance
has exact synonym: Reduced ration of renal Ca2+ to creatinine clearance
has OBO namespace: human_phenotype
id: HP:0003513
type: Class
subclass of: HP_0011280
notation: HP:0003513

Deficiency or absence of cytochrome b(-245)
tree view: Abnormality of mitochondrial metabolism
has db xref: UMLS:C1844390
has exact synonym: Deficiency or absence of cytochrome b
has OBO namespace: human_phenotype
id: HP:0003514
type: Class
subclass of: Abnormality of mitochondrial metabolism
notation: HP:0003514

HP_0003515
IAO_0000231: IAO_0000227
IAO_0100001: Tall stature
type: Class
deprecated: true
notation: HP:0003515

HP_0003516
IAO_0000231: IAO_0000227
IAO_0100001: Tall stature
type: Class
deprecated: true
notation: HP:0003516

Birth length greater than 97th percentile
tree view: Tall stature
has db xref: UMLS:C1839271
has OBO namespace: human_phenotype
id: HP:0003517
type: Class
subclass of: Tall stature
notation: HP:0003517

HP_0003518
IAO_0000231: IAO_0000227
IAO_0100001: Short stature
type: Class
deprecated: true
notation: HP:0003518

HP_0003519
IAO_0000231: IAO_0000227
IAO_0100001: Short stature
type: Class
deprecated: true
notation: HP:0003519

HP_0003520
IAO_0000231: IAO_0000227
IAO_0100001: HP_0008905
type: Class
deprecated: true
notation: HP:0003520

Disproportionate short-trunk short stature
tree view: Disproportionate short stature
tree view: HP_0009121
IAO_0000115: A type of disproportionate short stature characterized by a short trunk but a average-sized limbs.
has alternative id: HP:0001524
has alternative id: HP:0003500
has alternative id: HP:0008923
has db xref: UMLS:C1846435
has exact synonym: Disproportionate short-trunked dwarfism
has exact synonym: Disproportionate short-trunked short stature
has exact synonym: Short-trunked dwarfism
has OBO namespace: human_phenotype
id: HP:0003521
type: Class
subclass of: Disproportionate short stature
subclass of: HP_0009121
notation: HP:0003521

HP_0003522
IAO_0000231: IAO_0000227
IAO_0100001: HP_0008922
type: Class
deprecated: true
notation: HP:0003522

HP_0003523
IAO_0000231: IAO_0000227
IAO_0100001: HP_0011405
type: Class
deprecated: true
notation: HP:0003523

Decreased methionine synthase activity
tree view: HP_0012379
IAO_0000115: A reduction in methionine synthase activity.
has db xref: UMLS:C1848580
has exact synonym: Decreased activity of methionine synthase
has exact synonym: Methionine synthase activity decreased
has exact synonym: Methionine synthase deficiency
has exact synonym: Reduced methionine synthase activity
has OBO namespace: human_phenotype
id: HP:0003524
type: Class
comment: Cobalamin-dependent methionine synthase catalyzes the transfer of a methyl group from N5-methyltetrahydrofolate to homocysteine, producing tetrahydrofolate and methionine, i.e., (6S)-5-methyl-5,6,7,8-tetrahydrofolate + L-homocysteine = (6S)-5,6,7,8-tetrahydrofolate + L-methionine.
subclass of: HP_0012379
notation: HP:0003524

HP_0003525
IAO_0000231: IAO_0000227
IAO_0100001: Elevated serum creatine kinase
type: Class
deprecated: true
notation: HP:0003525

Orotic acid crystalluria
tree view: HP_0020074
IAO_0000115: Formation of crystals owing to an increased concentration of orotic acid in the urine.
has db xref: UMLS:C3278626
has OBO namespace: human_phenotype
id: HP:0003526
type: Class
subclass of: HP_0020074
notation: HP:0003526

Hyperprostaglandinuria
tree view: Abnormality of urine homeostasis
IAO_0000115: An increased concentration of prostaglandin in the urine.
has db xref: UMLS:C1866498
has exact synonym: High urine prostaglandin levels
has OBO namespace: human_phenotype
id: HP:0003527
type: Class
subclass of: Abnormality of urine homeostasis
notation: HP:0003527

Elevated calcitonin
tree view: HP_0100530
has db xref: UMLS:C1868394
has exact synonym: Elevated calcitonin
has OBO namespace: human_phenotype
id: HP:0003528
type: Class
comment: Calcitonin is a 32-amino acid polypeptide hormone that is produced primarily by the parafollicular cells of the thyroid. It acts to reduce blood calcium (Ca2+), opposing the effects of parathyroid hormone.
subclass of: HP_0100530
notation: HP:0003528

Parathormone-independent increased renal tubular calcium reabsorption
tree view: Abnormality of urine homeostasis
IAO_0000115: An increase in the reabsorption of calcium by the renal tubulus that is not associated with increased parathormone levels.
has db xref: UMLS:C4025604
has exact synonym: Parathormone-independent increased renal tubular Ca reabsorption
has exact synonym: Parathormone-independent increased renal tubular Ca2+ reabsorption
has OBO namespace: human_phenotype
id: HP:0003529
type: Class
comment: This feature is seen with familial hypocalciuric hypercalcemia. This disease has three known genetic etiologies, in type 1 there is a loss of function mutation in the calcium-sensing receptor (encoded by CASR), in type 2 there is a gain of function mutation in GNA11, which is involved in calcium-sensing receptor signaling, and in type 3 there is a mutation in AP2S1, which encodes the adaptor-related protein complex 2, sigma 1 subunit, which alters calcium-sensing receptor endocytosis.
subclass of: Abnormality of urine homeostasis
notation: HP:0003529

Glutaric acidemia
tree view: HP_0010995
tree view: HP_0032368
IAO_0000115: An increased concentration of glutaric acid in the blood.
has db xref: UMLS:C4025603
has exact synonym: Glutarate acidemia
has OBO namespace: human_phenotype
id: HP:0003530
type: Class
subclass of: HP_0010995
subclass of: HP_0032368
notation: HP:0003530

HP_0003531
IAO_0000231: IAO_0000227
IAO_0100001: Elevated serum creatine kinase
type: Class
deprecated: true
notation: HP:0003531

Ornithinuria
tree view: Aminoaciduria
IAO_0000115: An increased concentration of ornithine in the urine.
has db xref: UMLS:C4025602
has OBO namespace: human_phenotype
id: HP:0003532
type: Class
subclass of: Aminoaciduria
notation: HP:0003532

Reduced acetaldehyde dehydrogenase activity
tree view: HP_0012379
IAO_0000115: Decreased activity of acetaldehyde dehydrogenase (ADH). ADH and alcohol dehydrogenase (ALDH) are the primary enzymes involved in alcohol metabolism.
has db xref: UMLS:C4025601
has exact synonym: Delayed oxidation of acetaldehyde
has OBO namespace: human_phenotype
id: HP:0003533
type: Class
comment: In the liver, alcohol dehydrogenase converts ethanol into acetaldehyde, which is then converted into acetic acid by acetaldehyde dehydrogenase.
subclass of: HP_0012379
notation: HP:0003533

Reduced xanthine dehydrogenase activity
tree view: HP_0012379
IAO_0000115: An abnormal reduction in xanthine dehydrogenase activity.
has db xref: MSH:C562584
has db xref: SNOMEDCT_US:124147007
has db xref: SNOMEDCT_US:72682008
has db xref: UMLS:C0268118
has db xref: UMLS:C4025600
has OBO namespace: human_phenotype
has related synonym: Xanthine dehydrogenase deficiency
id: HP:0003534
type: Class
comment: This enzyme is on the purine degradation pathway and catalzyes the reaction xanthine + NAD+ + H2O = urate + NADH + H+.
subclass of: HP_0012379
notation: HP:0003534

3-Methylglutaconic aciduria
tree view: Abnormality of mitochondrial metabolism
tree view: Aminoaciduria
has db xref: MSH:C579867
has db xref: SNOMEDCT_US:237950009
has db xref: UMLS:C3696376
has OBO namespace: human_phenotype
id: HP:0003535
type: Class
comment: 3-methylglutaconic aciduria describes five different disorders that impair mitochondrial function and resulting in buildup of 3-methylglutaconic acid and 3-methylglutaric acid and consequent increased excretion in the urine.
subclass of: Abnormality of mitochondrial metabolism
subclass of: Aminoaciduria
notation: HP:0003535

Decreased fumarate hydratase activity
tree view: Abnormality of Krebs cycle metabolism
IAO_0000115: An abnormality of Krebs cycle metabolism that is characterized by a decreased rate of fumarate hydratase activity.
has db xref: UMLS:C1853903
has OBO namespace: human_phenotype
id: HP:0003536
type: Class
comment: Fumarate hydratase belongs to the tricarboxylic acid (Krebs) cycle. It catalyzes the conversion of fumarate to malate.
subclass of: Abnormality of Krebs cycle metabolism
notation: HP:0003536

Hypouricemia
tree view: Azotemia
tree view: Decreased purine level
IAO_0000115: An abnormally low level of uric acid in the blood.
has db xref: SNOMEDCT_US:4519003
has db xref: UMLS:C0221333
has exact synonym: Low blood uric acid levels
has OBO namespace: human_phenotype
id: HP:0003537
type: Class
subclass of: Azotemia
subclass of: Decreased purine level
notation: HP:0003537

Increased serum iduronate sulfatase activity
tree view: HP_0012379
IAO_0000115: An increased rate of iduronate-2-sulfatase activity in the blood.
has db xref: UMLS:C2673363
has db xref: UMLS:C4025599
has OBO namespace: human_phenotype
has related synonym: Increased serum iduronate sulfatase
id: HP:0003538
type: Class
comment: Iduronate-2-sulfatase is required for the lysosomal degradation of heparan sulfate and dermatan sulfate. Mutations in this X-chromosome gene are associated with Mucopolysaccharidosis Type II. Increased serum iduronate-2-sulfatase is observed in mucolipidosis II alpha/beta.
subclass of: HP_0012379
notation: HP:0003538

HP_0003539
IAO_0000231: IAO_0000227
IAO_0100001: Coombs-positive hemolytic anemia
type: Class
deprecated: true
notation: HP:0003539

Impaired platelet aggregation
tree view: HP_0030402
IAO_0000115: An impairment in the rate and degree to which platelets aggregate after the addition of an agonist that stimulates platelet clumping. Platelet aggregation is measured using aggregometer to measure the optical density of platelet-rich plasma, whereby platelet aggregation causes the plasma to become more transparent.
has alternative id: HP:0008177
has db xref: UMLS:C1855853
has exact synonym: Defective platelet aggregation
has exact synonym: Deficient platelet aggregation
has exact synonym: Platelet aggregation defect
has OBO namespace: human_phenotype
id: HP:0003540
type: Class
subclass of: HP_0030402
notation: HP:0003540

Urinary glycosaminoglycan excretion
tree view: Abnormality of urine homeostasis
IAO_0000115: Excretion of glycosaminoglycan in the urine. Glycosaminoglycans are long unbranched polysaccharides consisting of a repeating disaccharide unit.
has db xref: UMLS:C4025598
has OBO namespace: human_phenotype
id: HP:0003541
type: Class
subclass of: Abnormality of urine homeostasis
notation: HP:0003541

Increased serum pyruvate
tree view: Abnormality of glycolysis
IAO_0000115: An increased concentration of pyruvate in the blood.
has db xref: UMLS:C1849488
has exact synonym: Increased serum pyruvic acid
has OBO namespace: human_phenotype
id: HP:0003542
type: Class
comment: An abnormal increase in the concentration of pyruvate in the blood. Pyruvate is involved in energy metabolism, forming part of glycolysis and the citric acid cycle.
subclass of: Abnormality of glycolysis
notation: HP:0003542

HP_0003543
IAO_0000231: IAO_0000227
IAO_0100001: Ketosis
type: Class
deprecated: true
notation: HP:0003543

HP_0003544
IAO_0000231: IAO_0000227
IAO_0100001: Muscular dystrophy
type: Class
deprecated: true
notation: HP:0003544

HP_0003545
IAO_0000231: IAO_0000227
IAO_0100001: Skeletal muscle atrophy
type: Class
deprecated: true
notation: HP:0003545

Exercise intolerance
tree view: Functional motor deficit
IAO_0000115: A functional motor deficit where individuals whose responses to the challenges of exercise fail to achieve levels considered normal for their age and gender.
has db xref: SNOMEDCT_US:267044007
has db xref: UMLS:C0424551
has exact synonym: Decreased ability to exercise
has exact synonym: Inability to exercise
has exact synonym: Poor exercise tolerance
has OBO namespace: human_phenotype
id: HP:0003546
type: Class
subclass of: Functional motor deficit
notation: HP:0003546

Shoulder girdle muscle weakness
tree view: Abnormality of the shoulder girdle musculature
tree view: Limb-girdle muscle weakness
IAO_0000115: The shoulder, or pectoral, girdle is composed of the clavicles and the scapulae. Shoulder-girdle weakness refers to lack of strength of the muscles attaching to these bones, that is, lack of strength of the muscles around the shoulders.
has alternative id: HP:0003695
has alternative id: HP:0009009
has db xref: SNOMEDCT_US:249940002
has db xref: UMLS:C0427063
has db xref: UMLS:C0748691
has exact synonym: Muscle weakness, shoulder-girdle
has exact synonym: Shoulder girdle weakness
has exact synonym: Shoulder weakness
has exact synonym: Weak shoulder muscles
has OBO namespace: human_phenotype
id: HP:0003547
type: Class
subclass of: Abnormality of the shoulder girdle musculature
subclass of: Limb-girdle muscle weakness
notation: HP:0003547

Subsarcolemmal accumulations of abnormally shaped mitochondria
tree view: Muscle abnormality related to mitochondrial dysfunction
IAO_0000115: An abnormally increased number of mitochondria in the cytoplasma adjacent to the sarcolemma (muscle cell membrane), whereby the mitochondria also possess an abnormal morphology.
has db xref: UMLS:C4025597
has OBO namespace: human_phenotype
id: HP:0003548
type: Class
comment: This finding can be demonstrated by electron microscopy. This finding is typical of mitochondrial myopathies.
subclass of: Muscle abnormality related to mitochondrial dysfunction
notation: HP:0003548

Abnormality of connective tissue
tree view: Phenotypic abnormality
IAO_0000115: Any abnormality of the soft tissues, including both connective tissue (tendons, ligaments, fascia, fibrous tissues, and fat).
has db xref: UMLS:C4025596
has OBO namespace: human_phenotype
id: HP:0003549
type: Class
subclass of: Phenotypic abnormality
notation: HP:0003549

Predominantly lower limb lymphedema
tree view: Lymphedema
IAO_0000115: Localized fluid retention and tissue swelling caused by a compromised lymphatic system, affecting mainly the legs.
has db xref: UMLS:C1835228
has OBO namespace: human_phenotype
id: HP:0003550
type: Class
subclass of: Lymphedema
notation: HP:0003550

Difficulty climbing stairs
tree view: Functional motor deficit
IAO_0000115: Reduced ability to climb stairs.
has alternative id: HP:0007019
has db xref: SNOMEDCT_US:282195009
has db xref: UMLS:C0239067
has exact synonym: Difficulty walking up stairs
has OBO namespace: human_phenotype
id: HP:0003551
type: Class
subclass of: Functional motor deficit
notation: HP:0003551

Muscle stiffness
tree view: HP_0011804
IAO_0000115: A condition in which muscles cannot be moved quickly without accompanying pain or spasm.
has alternative id: HP:0009014
has db xref: SNOMEDCT_US:16046003
has db xref: UMLS:C0221170
has OBO namespace: human_phenotype
id: HP:0003552
type: Class
subclass of: HP_0011804
notation: HP:0003552

obsolete Cellulitis due to immunodeficiency
IAO_0000231: IAO_0000227
IAO_0100001: HP_0100658
IAO_0100001: HP:0100658
has OBO namespace: human_phenotype
id: HP:0003553
type: Class
deprecated: true
notation: HP:0003553

Type 2 muscle fiber atrophy
tree view: HP_0100295
IAO_0000115: Atrophy (wasting) affecting primary type 2 muscle fibers. This feature in general can only be observed on muscle biopsy.
has db xref: UMLS:C1864580
has exact synonym: Type 2 fiber atrophy
has OBO namespace: human_phenotype
id: HP:0003554
type: Class
comment: This finding can be demonstrated by muscle biopsy.
subclass of: HP_0100295
notation: HP:0003554

Muscle fiber splitting
tree view: Abnormality of muscle fibers
IAO_0000115: Fiber splitting or branching is a common finding in human and rat skeletal muscle pathology. Fiber splitting refers to longitudinal halving of the complete fiber, while branching originates from a regenerating end of a necrotic fiber as invaginations of the sarcolemma. In fiber branching, one end of the fiber remains intact as a single entity, while the other end has several branches.
has db xref: UMLS:C1836057
has exact synonym: Fiber splitting
has exact synonym: Fibre splitting
has exact synonym: Muscle fibre splitting
has OBO namespace: human_phenotype
id: HP:0003555
type: Class
subclass of: Abnormality of muscle fibers
notation: HP:0003555

HP_0003556
IAO_0000231: IAO_0000227
IAO_0100001: Increased variability in muscle fiber diameter
type: Class
deprecated: true
notation: HP:0003556

Increased variability in muscle fiber diameter
tree view: HP_0012084
IAO_0000115: An abnormally high degree of muscle fiber size variation. This phenotypic feature can be observed upon muscle biopsy.
has alternative id: HP:0003556
has db xref: UMLS:C1843700
has exact synonym: Increased fiber size variation
has exact synonym: Increased variability in muscle fiber size
has exact synonym: Increased variation in fiber size
has exact synonym: Increased variation in muscle fiber size
has exact synonym: Variation in muscle fiber size
has OBO namespace: human_phenotype
id: HP:0003557
type: Class
comment: This finding can be demonstrated by muscle biopsy.
subclass of: HP_0012084
notation: HP:0003557

Viral infection-induced rhabdomyolysis
tree view: Rhabdomyolysis
IAO_0000115: Rhabdomyolysis induced by a viral infection.
has db xref: UMLS:C4025595
has OBO namespace: human_phenotype
id: HP:0003558
type: Class
subclass of: Rhabdomyolysis
notation: HP:0003558

Muscle hyperirritability
tree view: HP_0011804
has db xref: UMLS:C1853701
has OBO namespace: human_phenotype
id: HP:0003559
type: Class
subclass of: HP_0011804
notation: HP:0003559

Muscular dystrophy
tree view: HP_0011805
IAO_0000115: The term dystrophy means abnormal growth. However, muscular dystrophy is used to describe primary myopathies with a genetic basis and a progressive course characterized by progressive skeletal muscle weakness and wasting, defects in muscle proteins, and histological features of muscle fiber degeneration (necrosis) and regeneration. If possible, it is preferred to use other HPO terms to describe the precise phenotypic abnormalities.
has alternative id: HP:0003544
has alternative id: HP:0003806
has db xref: MSH:D009136
has db xref: SNOMEDCT_US:193225000
has db xref: SNOMEDCT_US:73297009
has db xref: UMLS:C0026850
has db xref: UMLS:C1864711
has OBO namespace: human_phenotype
has related synonym: Muscle biopsy shows dystrophic changes
id: HP:0003560
type: Class
comment: Muscular dystrophy can be demonstrated by muscle biopsy.
subclass of: HP_0011805
notation: HP:0003560

Birth length less than 3rd percentile
tree view: Short stature
has db xref: UMLS:C1855650
has exact synonym: Birth length < 3rd percentile
has exact synonym: Birth length <3rd percentile
has OBO namespace: human_phenotype
id: HP:0003561
type: Class
subclass of: Short stature
notation: HP:0003561

Abnormal metaphyseal vascular invasion
tree view: Abnormality of the metaphysis
has db xref: UMLS:C3277127
has OBO namespace: human_phenotype
id: HP:0003562
type: Class
subclass of: Abnormality of the metaphysis
notation: HP:0003562

Decreased LDL cholesterol concentration
tree view: HP_0010981
tree view: HP_0031886
IAO_0000115: An decreased concentration of low-density lipoprotein cholesterol in the blood.
has db xref: MSH:D006995
has db xref: SNOMEDCT_US:190786004
has db xref: UMLS:C0020597
has db xref: UMLS:C0853085
has exact synonym: Decreased LDLc concentration
has exact synonym: Decreased circulating low-density lipoprotein levels
has exact synonym: Hypobetalipoproteinemia
has OBO namespace: human_phenotype
has related synonym: Decreased LDL
id: HP:0003563
type: Class
comment: Beta-lipoprotein cholesterol is a synonym for low-density lipoprotein (LDL) cholesterol.
subclass of: HP_0010981
subclass of: HP_0031886
notation: HP:0003563

Folate-dependent fragile site at Xq28
tree view: HP_0040012
IAO_0000115: The presence of a folate sensitive fragile site at chromosome Xq28.
has db xref: UMLS:C1839785
has OBO namespace: human_phenotype
id: HP:0003564
type: Class
comment: Fragile sites can be defined as heritable specific loci on human chromosomes that exhibit non-random gaps, constrictions or breaks when chromosomes are exposed to specific cell culture conditions. Over 120 different fragile sites have been identified in the human genome. Some of these sites are sensitive to folate, that is, they can be induced by a culture medium deficient in folic acid and thymidine, and hence a medium with lowered levels of dTTP or dCTP, two immediate components of DNA, or by a medium enriched either in methotrexate, an inhibitor of folate metabolism, or in fluorodeoxyuridine, an inhibitor of thymidylate synthesis. The folate-dependent fragile phenotype occurs if more than a critical number of CCG/CGG repeats are present (e.g., > 230 repeats for FRAXA).
subclass of: HP_0040012
notation: HP:0003564

Elevated erythrocyte sedimentation rate
tree view: HP_0025021
IAO_0000115: An increased erythrocyte sedimentation rate (ESR). The ESR a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen.
has db xref: SNOMEDCT_US:165468009
has db xref: UMLS:C0151632
has exact synonym: Elevated ESR
has exact synonym: Elevated sedimentation rate
has exact synonym: High ESR
has exact synonym: High erythrocyte sedimentation rate
has exact synonym: Increased erythrocyte sedimentation rate
has exact synonym: Raised erythrocyte sedimentation rate
has OBO namespace: human_phenotype
id: HP:0003565
type: Class
subclass of: HP_0025021
notation: HP:0003565

Increased serum prostaglandin E2
tree view: HP_0011023
IAO_0000115: An increased concentration of prostaglandin E2 in the blood.
has alternative id: HP:0008298
has db xref: UMLS:C3150358
has exact synonym: Elevated prostaglandin E2
has OBO namespace: human_phenotype
id: HP:0003566
type: Class
subclass of: HP_0011023
notation: HP:0003566

HP_0003567
IAO_0000231: IAO_0000227
IAO_0100001: HP_0008155
type: Class
deprecated: true
notation: HP:0003567

Decreased glucosephosphate isomerase activity
tree view: HP_0012379
IAO_0000115: A decreased rate of glucose-6-phosphate isomerase activity.
has alternative id: HP:0003290
has db xref: SNOMEDCT_US:124669001
has db xref: UMLS:C1291611
has exact synonym: Decreased glucose phosphate isomerase activity
has exact synonym: Glucosephosphate isomerase deficiency
has exact synonym: Phosphohexose isomerase deficiency
has OBO namespace: human_phenotype
id: HP:0003568
type: Class
comment: Deficiency of glucose-6-phosphate isomerase (EC 5.3.1.9).
subclass of: HP_0012379
notation: HP:0003568

HP_0003569
IAO_0000231: IAO_0000227
IAO_0100001: Myopathy
type: Class
deprecated: true
notation: HP:0003569

Molybdenum cofactor deficiency
tree view: HP_0012379
IAO_0000115: Absence of molybdenum cofactor(2-), a cofactor for enzymes including sulfite oxidase, xanthine oxidoreductase, and aldehyde oxidase.
has db xref: MSH:C535811
has db xref: SNOMEDCT_US:29692004
has db xref: UMLS:C0268119
has OBO namespace: human_phenotype
id: HP:0003570
type: Class
subclass of: HP_0012379
notation: HP:0003570

Propionicacidemia
tree view: HP_0032368
has db xref: MSH:D056693
has db xref: SNOMEDCT_US:124718009
has db xref: SNOMEDCT_US:69080001
has db xref: UMLS:C0268579
has OBO namespace: human_phenotype
id: HP:0003571
type: Class
subclass of: HP_0032368
notation: HP:0003571

Low plasma citrulline
tree view: HP_0011965
IAO_0000115: A decreased concentration of citrulline in the blood.
has db xref: UMLS:C1839532
has OBO namespace: human_phenotype
id: HP:0003572
type: Class
subclass of: HP_0011965
notation: HP:0003572

Increased total bilirubin
tree view: Hyperbilirubinemia
IAO_0000115: Increased concentration of total (conjugated and unconjugated) bilirubin in the blood.
has alternative id: HP:0008168
has db xref: SNOMEDCT_US:176271000119108
has db xref: UMLS:C0741494
has exact synonym: High bili total
has exact synonym: Increased bilirubin
has OBO namespace: human_phenotype
id: HP:0003573
type: Class
subclass of: Hyperbilirubinemia
notation: HP:0003573

Positive regitine blocking test
tree view: Hypertension associated with pheochromocytoma
IAO_0000115: A positive response to the regitine blocking test consisting of a substantial reduction in blood pressure following administration of regitine, indicative of the presence of increased levels of epinephrine and norepinephrine in the circulation, which is seen in pheochromocytoma-associated hypertension.
has db xref: UMLS:C4025594
has OBO namespace: human_phenotype
id: HP:0003574
type: Class
comment: Regitine produces an alpha-adrenergic block of relatively short duration. In the regitine blocking test, regitine is injected rapidly and bood pressure is recorded immediately after injection, at 30-second intervals for the first 3 minutes, and at 60-second intervals for the next 7 minutes. A positive response to the reginitine blocking test is present when the blood pressure is reduced more than 35 mmHg systolic and 25 mmHg diastolic. A typical positive response is a reduction in pressure of 60 mmHg systolic and 25 mmHg diastolic. A positive response is suggestive of pheochromocytoma and should generally be confirmed by other diagnostic procedures such as measurement of urinary catecholamines or their metabolites.
subclass of: Hypertension associated with pheochromocytoma
notation: HP:0003574

Increased intracellular sodium
tree view: HP_0011017
IAO_0000115: An abnormally increased sodium concentration in the cytosol.
has db xref: UMLS:C4025593
has exact synonym: High intracellular Na
has exact synonym: Increased intracellular Na+ levels
has OBO namespace: human_phenotype
id: HP:0003575
type: Class
subclass of: HP_0011017
notation: HP:0003575

HP_0003576
IAO_0000231: IAO_0000227
IAO_0100001: Infantile onset
type: Class
deprecated: true
notation: HP:0003576

Congenital onset
tree view: Onset
IAO_0000115: A phenotypic abnormality that is present at birth.
has alternative id: HP:0003595
has alternative id: HP:0003601
has alternative id: HP:0003624
has alternative id: HP:0003660
has alternative id: HP:0003666
has db xref: UMLS:C1836142
has db xref: UMLS:C2752013
has exact synonym: Intrauterine onset
has exact synonym: Onset at birth
has exact synonym: Onset in utero
has exact synonym: Symptoms present at birth
has OBO namespace: human_phenotype
has related synonym: Prenatal onset
id: HP:0003577
type: Class
comment: Congenital onset literally means present at birth. Congenital abnormalities are thus generally acquired during fetal development. Congenital abnormalities are often but not always hereditary in nature. Whether a disease manifestation is diagnosed to be intrauterine or congenital may depend on the time at which diagnostic procedures are performed. Thus, most congenital abnormalities are also intrauterine. This term should be used for phenotypic abnormalities or diseases initially observed at the time of birth. For abnormalities observed prior to (e.g., by fetal ultrasound), use the term Antenatal onset (HP:0030674).
subclass of: Onset
notation: HP:0003577

HP_0003578
IAO_0000231: IAO_0000227
IAO_0100001: Juvenile onset
type: Class
deprecated: true
notation: HP:0003578

HP_0003579
IAO_0000231: IAO_0000227
IAO_0100001: Infantile onset
type: Class
deprecated: true
notation: HP:0003579

HP_0003580
IAO_0000231: IAO_0000227
IAO_0100001: Juvenile onset
type: Class
deprecated: true
notation: HP:0003580

Adult onset
tree view: Onset
IAO_0000115: Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later.
has alternative id: HP:0003585
has alternative id: HP:0003598
has alternative id: HP:0003627
has alternative id: HP:0003662
has alternative id: HP:0003669
has db xref: UMLS:C1853562
has exact synonym: Onset in adulthood
has exact synonym: Onset in early adulthood
has exact synonym: Symptoms begin in adulthood
has OBO namespace: human_phenotype
id: HP:0003581
type: Class
subclass of: Onset
notation: HP:0003581

HP_0003582
IAO_0000231: IAO_0000227
IAO_0100001: Juvenile onset
type: Class
deprecated: true
notation: HP:0003582

HP_0003583
IAO_0000231: IAO_0000227
IAO_0100001: Juvenile onset
type: Class
deprecated: true
notation: HP:0003583

Late onset
tree view: Adult onset
IAO_0000115: A type of adult onset with onset of symptoms after the age of 60 years.
has db xref: UMLS:C4025592
has OBO namespace: human_phenotype
id: HP:0003584
type: Class
subclass of: Adult onset
notation: HP:0003584

HP_0003585
IAO_0000231: IAO_0000227
IAO_0100001: Adult onset
type: Class
deprecated: true
notation: HP:0003585

HP_0003586
IAO_0000231: IAO_0000227
IAO_0100001: HP_0011463
type: Class
deprecated: true
notation: HP:0003586

Insidious onset
tree view: HP_0011008
IAO_0000115: Gradual, very slow onset of disease manifestations.
has db xref: SNOMEDCT_US:367326009
has db xref: SNOMEDCT_US:61751001
has db xref: UMLS:C0332164
has db xref: UMLS:C1298634
has exact synonym: Gradual onset
has OBO namespace: human_phenotype
id: HP:0003587
type: Class
subclass of: HP_0011008
notation: HP:0003587

HP_0003588
IAO_0000231: IAO_0000227
IAO_0100001: Onset
type: Class
deprecated: true
notation: HP:0003588

HP_0003589
IAO_0000231: IAO_0000227
IAO_0100001: Juvenile onset
type: Class
deprecated: true
notation: HP:0003589

HP_0003590
IAO_0000231: IAO_0000227
IAO_0100001: Onset
type: Class
deprecated: true
notation: HP:0003590

HP_0003591
IAO_0000231: IAO_0000227
IAO_0100001: Infantile onset
type: Class
deprecated: true
notation: HP:0003591

HP_0003592
IAO_0000231: IAO_0000227
IAO_0100001: Juvenile onset
type: Class
deprecated: true
notation: HP:0003592

Infantile onset
tree view: HP_0410280
IAO_0000115: Onset of signs or symptoms of disease between 28 days to one year of life.
has alternative id: HP:0003576
has alternative id: HP:0003579
has alternative id: HP:0003591
has alternative id: HP:0003594
has alternative id: HP:0003599
has alternative id: HP:0003600
has alternative id: HP:0003629
has alternative id: HP:0003631
has alternative id: HP:0003667
has alternative id: HP:0003672
has alternative id: HP:0010573
has db xref: UMLS:C1848924
has exact synonym: Infantile onset
has exact synonym: Onset in first year of life
has exact synonym: Onset in infancy
has OBO namespace: human_phenotype
id: HP:0003593
type: Class
comment: Onset of signs or symptoms of disease within the first 12 months of life.
subclass of: HP_0410280
notation: HP:0003593

HP_0003594
IAO_0000231: IAO_0000227
IAO_0100001: Infantile onset
type: Class
deprecated: true
notation: HP:0003594

HP_0003595
IAO_0000231: IAO_0000227
IAO_0100001: Congenital onset
type: Class
deprecated: true
notation: HP:0003595

Middle age onset
tree view: Adult onset
IAO_0000115: A type of adult onset with onset of symptoms at the age of 40 to 60 years.
has db xref: UMLS:C1969363
has OBO namespace: human_phenotype
id: HP:0003596
type: Class
comment: Middle age is of course not amenable to precise definitions. We suggest using this term for onset of disease symptoms between the age of 40 and 60 years.
subclass of: Adult onset
notation: HP:0003596

HP_0003597
IAO_0000231: IAO_0000227
IAO_0100001: Onset
type: Class
deprecated: true
notation: HP:0003597

HP_0003598
IAO_0000231: IAO_0000227
IAO_0100001: Adult onset
type: Class
deprecated: true
notation: HP:0003598

HP_0003599
IAO_0000231: IAO_0000227
IAO_0100001: Infantile onset
type: Class
deprecated: true
notation: HP:0003599

HP_0003600
IAO_0000231: IAO_0000227
IAO_0100001: Infantile onset
type: Class
deprecated: true
notation: HP:0003600

HP_0003601
IAO_0000231: IAO_0000227
IAO_0100001: Congenital onset
type: Class
deprecated: true
notation: HP:0003601

HP_0003602
IAO_0000231: IAO_0000227
IAO_0100001: Onset
type: Class
deprecated: true
notation: HP:0003602

HP_0003603
IAO_0000231: IAO_0000227
IAO_0100001: Onset
type: Class
deprecated: true
notation: HP:0003603

HP_0003604
IAO_0000231: IAO_0000227
IAO_0100001: Juvenile onset
type: Class
deprecated: true
notation: HP:0003604

HP_0003605
IAO_0000231: IAO_0000227
IAO_0100001: Lymphedema
type: Class
deprecated: true
notation: HP:0003605

Absent urinary urothione
tree view: Abnormality of urine homeostasis
IAO_0000115: Lack of urothione (the urinary metabolite of molybdenum cofactor) in the urine.
has db xref: UMLS:C4025591
has OBO namespace: human_phenotype
id: HP:0003606
type: Class
comment: Urothione, a sulfur-containing pterin, is the normal metabolic degradation product of the molybdenum cofactor.
subclass of: Abnormality of urine homeostasis
notation: HP:0003606

4-Hydroxyphenylacetic aciduria
tree view: HP_0040156
IAO_0000115: Increased concentration of 4-hydroxyphenylacetic acid in the urine.
has db xref: MSH:C535315
has db xref: UMLS:C1848680
has OBO namespace: human_phenotype
id: HP:0003607
type: Class
comment: 4-Hydroxyphenylpyruvate dioxygenase participates in the tyrosine catabolic pathway by catalyzing the conversion of 4-hydroxyphenylpyruvate to homogentisate. A deficiency in this enzyme can result in 4-Hydroxyphenylacetic aciduria.
subclass of: HP_0040156
notation: HP:0003607

HP_0003608
IAO_0000231: IAO_0000227
IAO_0100001: HP_0012605
type: Class
deprecated: true
notation: HP:0003608

Foam cells with lamellar inclusion bodies
tree view: Foam cells
IAO_0000115: The presence of foam cells that contain lamellar inclusion bodies.
has db xref: UMLS:C4025590
has OBO namespace: human_phenotype
id: HP:0003609
type: Class
comment: Foam cells with lamellar inclusion bodies are thought to be a hallmark of cellular phospholipidosis, i.e., of the excess accumulation of phospholipids. This abnormality can be assayed by electron microscopy.
subclass of: Foam cells
notation: HP:0003609

Fibroblast metachromasia
tree view: Cellular metachromasia
IAO_0000115: Increased cytoplasmic staining of fibroblasts with toluidine blue.
has db xref: UMLS:C1835008
has OBO namespace: human_phenotype
id: HP:0003610
type: Class
comment: Cultured fibroblasts from the genetic mucopolysaccharidoses store higher than normal amounts of glycosaminoglyeans. Histochemical stains such as toluidine blue and Alcian blue can be used to detect such intracellular glycosaminoglycans which, being negatively charged, are bound and precipitated by the cationic dyes. Cultured fibroblasts from homozygotes -and heterozygotes for the genetic mucopolysaccharidoses accumulate excessive quantities of glycosaminoglycans. The cytoplasmic staining with toluidine blue is referred to as metachromasia (pink) and orthochromasia (blue) and that with Alcian blue as alcianophilia.
subclass of: Cellular metachromasia
notation: HP:0003610

HP_0003611
IAO_0000231: IAO_0000227
IAO_0100001: Abnormal circulating lipid concentration
type: Class
deprecated: true
notation: HP:0003611

Positive ferric chloride test
tree view: HP_0010893
IAO_0000115: If positive, the ferric chloride test indicates an increased concentration of phenols in the urine or blood.
has db xref: UMLS:C4025589
has exact synonym: Positive FeCl3 test
has OBO namespace: human_phenotype
id: HP:0003612
type: Class
comment: The ferric chloride test indicates presence of high levels of phenylpyruvate in urine, because ferric ion forms a blue-green colored complex with phenylpyruvate. Some other compounds can also lead to a positive ferric chloride test. The ferric chloride test is no longer used in modern clinical practice, but this term is kept for historical reasons. The urine phenylpyruvate concentration is elevanted in phenylketonuria.
subclass of: HP_0010893
notation: HP:0003612

Antiphospholipid antibody positivity
tree view: HP_0030057
IAO_0000115: The presence of circulating autoantibodies to phospholipids.
has db xref: UMLS:C4019436
has exact synonym: Antiphospholipid antibodies
has exact synonym: Antiphospholipid antibody
has exact synonym: Phospholipid antibody positivity
has OBO namespace: human_phenotype
id: HP:0003613
type: Class
comment: This group of autoantibodies comprises anticardiolipin, antiphosphatidylinositol, atiphosphatidylglycerol, and antiphosphatidylserine antibodies.
subclass of: HP_0030057
notation: HP:0003613

Trimethylaminuria
tree view: Abnormality of urine homeostasis
IAO_0000115: Increased concentration of trimethylamine in the urine.
has db xref: MSH:C536561
has db xref: SNOMEDCT_US:237959005
has db xref: UMLS:C0342739
has exact synonym: High urine trimethylamine levels
has OBO namespace: human_phenotype
id: HP:0003614
type: Class
comment: Increased concentration of trimethylamine, an organic amino compound with an oder characterized as that of rotting fish, in the urine. Trimethylaminuria is generally caused by impaired oxidation of trimethylamine into the odorless compound trimethylamine N-oxide.
subclass of: Abnormality of urine homeostasis
notation: HP:0003614

HP_0003615
IAO_0000231: IAO_0000227
IAO_0100001: Increased circulating renin level
type: Class
deprecated: true
notation: HP:0003615

Premature separation of centromeric heterochromatin
tree view: HP_0200024
has db xref: UMLS:C1849316
has OBO namespace: human_phenotype
id: HP:0003616
type: Class
subclass of: HP_0200024
notation: HP:0003616

HP_0003617
IAO_0000231: IAO_0000227
IAO_0100001: HP_0011463
type: Class
deprecated: true
notation: HP:0003617

HP_0003618
IAO_0000231: IAO_0000227
IAO_0100001: Onset
type: Class
deprecated: true
notation: HP:0003618

HP_0003619
IAO_0000231: IAO_0000227
IAO_0100001: Juvenile onset
type: Class
deprecated: true
notation: HP:0003619

HP_0003620
IAO_0000231: IAO_0000227
IAO_0100001: Juvenile onset
type: Class
deprecated: true
notation: HP:0003620

Juvenile onset
tree view: HP_0410280
IAO_0000115: Onset of signs or symptoms of disease between the age of 5 and 15 years.
has alternative id: HP:0003578
has alternative id: HP:0003580
has alternative id: HP:0003582
has alternative id: HP:0003583
has alternative id: HP:0003589
has alternative id: HP:0003592
has alternative id: HP:0003604
has alternative id: HP:0003619
has alternative id: HP:0003620
has alternative id: HP:0003625
has alternative id: HP:0003659
has alternative id: HP:0003661
has alternative id: HP:0003670
has db xref: UMLS:C4025588
has exact synonym: Signs and symptoms begin before 15 years of age
has OBO namespace: human_phenotype
id: HP:0003621
type: Class
subclass of: HP_0410280
notation: HP:0003621

HP_0003622
IAO_0000231: IAO_0000227
IAO_0100001: Neonatal onset
type: Class
deprecated: true
notation: HP:0003622

Neonatal onset
tree view: Onset
IAO_0000115: Onset of signs or symptoms of disease within the first 28 days of life.
has alternative id: HP:0003622
has db xref: UMLS:C1855106
has exact synonym: Neonatal onset
has exact synonym: Onset in first weeks of life
has exact synonym: Onset in neonatal period
has OBO namespace: human_phenotype
id: HP:0003623
type: Class
subclass of: Onset
notation: HP:0003623

HP_0003624
IAO_0000231: IAO_0000227
IAO_0100001: Congenital onset
type: Class
deprecated: true
notation: HP:0003624

HP_0003625
IAO_0000231: IAO_0000227
IAO_0100001: Juvenile onset
type: Class
deprecated: true
notation: HP:0003625

HP_0003626
IAO_0000231: IAO_0000227
IAO_0100001: Onset
type: Class
deprecated: true
notation: HP:0003626

HP_0003627
IAO_0000231: IAO_0000227
IAO_0100001: Adult onset
type: Class
deprecated: true
notation: HP:0003627

HP_0003628
IAO_0000231: IAO_0000227
IAO_0100001: Onset
type: Class
deprecated: true
notation: HP:0003628

HP_0003629
IAO_0000231: IAO_0000227
IAO_0100001: Infantile onset
type: Class
deprecated: true
notation: HP:0003629

HP_0003630
IAO_0000231: IAO_0000227
IAO_0100001: Onset
type: Class
deprecated: true
notation: HP:0003630

HP_0003631
IAO_0000231: IAO_0000227
IAO_0100001: Infantile onset
type: Class
deprecated: true
notation: HP:0003631

HP_0003632
IAO_0000231: IAO_0000227
IAO_0100001: Myotonia
type: Class
deprecated: true
notation: HP:0003632

HP_0003633
IAO_0000231: IAO_0000227
IAO_0100001: HP_0008967
type: Class
deprecated: true
notation: HP:0003633

Amyoplasia
tree view: HP_0100854
IAO_0000115: Congenital lack of development of the muscles, which are then replaced by a mixture of dense fat and fibrous tissue.
has alternative id: HP:0008990
has db xref: SNOMEDCT_US:205532005
has db xref: UMLS:C0432185
has exact synonym: Absent muscles since birth
has exact synonym: Congenital absence of muscles
has OBO namespace: human_phenotype
id: HP:0003634
type: Class
subclass of: HP_0100854
notation: HP:0003634

Loss of subcutaneous adipose tissue in limbs
tree view: HP_0008887
IAO_0000115: Loss (disappearance) of previously present subcutaneous fat tissue in arm or leg.
has alternative id: HP:0003757
has db xref: UMLS:C1837764
has exact synonym: Loss of fat tissue below the skin in limbs
has exact synonym: Loss of subcutaneous adipose tissue from extremities
has OBO namespace: human_phenotype
id: HP:0003635
in subset: hposlim core
type: Class
subclass of: HP_0008887
notation: HP:0003635

HP_0003636
IAO_0000231: IAO_0000227
IAO_0100001: Elevated alkaline phosphatase
type: Class
deprecated: true
notation: HP:0003636

Reduced 4-Hydroxyphenylpyruvate dioxygenase activity
tree view: HP_0012379
IAO_0000115: An abnormal reduction in 4-hydroxyphenylpyruvate dioxygenase activity.
has db xref: UMLS:C4025587
has exact synonym: Reducted HPPD activity
has OBO namespace: human_phenotype
id: HP:0003637
type: Class
comment: Note: 4-hydroxyphenylpyruvate dioxygenase corresponds to EC 1.13.11.27. 4-Hydroxyphenylpyruvate dioxygenase participates in the tyrosine catabolic pathway by catalyzing the conversion of 4-hydroxyphenylpyruvate to homogentisate. A deficiency in this enzyme can result in 4-Hydroxyphenylacetic aciduria.
subclass of: HP_0012379
notation: HP:0003637

HP_0003638
IAO_0000231: IAO_0000227
IAO_0100001: Increased serum lactate
type: Class
deprecated: true
notation: HP:0003638

Elevated urinary epinephrine
tree view: HP_0011976
IAO_0000115: An increased concentration of adrenaline in the urine.
has db xref: UMLS:C1868393
has exact synonym: Increased urinary epinephrine
has OBO namespace: human_phenotype
id: HP:0003639
type: Class
subclass of: HP_0011976
notation: HP:0003639

Foam cells in visceral organs and CNS
tree view: Foam cells
has db xref: UMLS:C1843373
has OBO namespace: human_phenotype
id: HP:0003640
type: Class
subclass of: Foam cells
notation: HP:0003640

Hemoglobinuria
tree view: Abnormality of urine homeostasis
IAO_0000115: The presence of free hemoglobin in the urine.
has db xref: MSH:D006456
has db xref: SNOMEDCT_US:68600005
has db xref: UMLS:C0019048
has exact synonym: Hemoglobin in urine
has OBO namespace: human_phenotype
id: HP:0003641
type: Class
comment: If, following hemolysis, haptoglobins (hemoglobin-binding proteins) are saturated, then free hemoglobin appears in the urine.
subclass of: Abnormality of urine homeostasis
notation: HP:0003641

Type I transferrin isoform profile
tree view: Abnormal isoelectric focusing of serum transferrin
IAO_0000115: Abnormal transferrin isoform profile consistent with a type I congenital disorder of glycosylation. In the traditional nomenclature for congenital disorders of glycosylation, absence of entire glycans was designated type I, and loss of one or more monosaccharides as type II.
has db xref: UMLS:C1837899
has exact synonym: Abnormal isoelectric focusing of serum transferrin, type I pattern
has exact synonym: Isoelectric focusing of serum transferrin consistent with CDG type I
has exact synonym: Type 1 transferrin isoform profile
has OBO namespace: human_phenotype
id: HP:0003642
type: Class
comment: There are several methods in use with which this feature can be diagnosed. Using HPLC analysis an increased asialo- and disialotransferrin and reduced tetrasialotransferrin are observed. Using immunoaffinity column analysis, the mono-oligosaccharide/di-oligosaccharide transferrin ratio, and/or the a-oligosaccharide/di-oligosaccharide transferrin ratio are abnormal.
subclass of: Abnormal isoelectric focusing of serum transferrin
notation: HP:0003642

Sulfite oxidase deficiency
tree view: HP_0012379
IAO_0000115: Abnormally reduced sulfite oxidase activity.
has db xref: MSH:C538141
has db xref: SNOMEDCT_US:367368009
has db xref: UMLS:C0268624
has OBO namespace: human_phenotype
id: HP:0003643
type: Class
comment: Sulfite oxidase is responsible for the oxidation of sulfite to sulfate and is the terminal enzyme in the oxidative degradation pathway of sulfur-containing amino acids.
subclass of: HP_0012379
notation: HP:0003643

HP_0003644
IAO_0000231: IAO_0000227
IAO_0100001: HP_0008166
type: Class
deprecated: true
notation: HP:0003644

Prolonged partial thromboplastin time
tree view: Abnormality of coagulation
IAO_0000115: Increased time to coagulation in the partial thromboplastin time (PTT) test, a measure of the intrinsic and common coagulation pathways. Phospholipid, and activator, and calcium are mixed into an anticoagulated plasma sample, and the time is measured until a thrombus forms.
has db xref: SNOMEDCT_US:409675001
has db xref: UMLS:C0240671
has exact synonym: Abnormal partial thromboplastin time
has exact synonym: Delayed thromboplastin generation
has exact synonym: Partial thromboplastin time prolonged
has exact synonym: Prolonged PTT
has exact synonym: Prolonged activated partial thromboplastin time
has OBO namespace: human_phenotype
id: HP:0003645
type: Class
subclass of: Abnormality of coagulation
notation: HP:0003645

Bicarbonaturia
tree view: HP_0011279
IAO_0000115: Abnormally increased concentration of hydrogencarbonate in the urine.
has db xref: UMLS:C1839865
has exact synonym: Increased urine HCO3 concentration
has exact synonym: Increased urine bicarbonate concentration
has OBO namespace: human_phenotype
id: HP:0003646
type: Class
subclass of: HP_0011279
notation: HP:0003646

Electron transfer flavoprotein-ubiquinone oxidoreductase defect
tree view: Abnormality of mitochondrial metabolism
has db xref: UMLS:C4025586
has OBO namespace: human_phenotype
id: HP:0003647
type: Class
subclass of: Abnormality of mitochondrial metabolism
notation: HP:0003647

Lacticaciduria
tree view: HP_0012072
IAO_0000115: An increased concentration of lactic acid in the urine.
has db xref: UMLS:C4025585
has exact synonym: High urine lactic acid levels
has OBO namespace: human_phenotype
id: HP:0003648
type: Class
subclass of: HP_0012072
notation: HP:0003648

Abnormality of glycoside metabolism
tree view: HP_0012379
IAO_0000115: Abnormality of glycoside metabolism.
created by: peter
creation date: 2008-03-08T08:32:00Z
has db xref: UMLS:C4025584
has OBO namespace: human_phenotype
id: HP:0003649
type: Class
comment: Glycosides are molecules with a suger moiety bound to some other moiety.
subclass of: HP_0012379
notation: HP:0003649

HP_0003650
IAO_0000231: IAO_0000227
IAO_0100001: Foam cells
type: Class
deprecated: true
notation: HP:0003650

Foam cells
tree view: Atherosclerosis
IAO_0000115: The presence of foam cells, a type of macrophage that localizes to fatty deposits on blood vessel walls, where they ingest low-density lipoproteins and become laden with lipids, giving them a foamy appearance.
has alternative id: HP:0003650
has db xref: MSH:D005487
has db xref: SNOMEDCT_US:16980002
has db xref: UMLS:C0016390
has exact synonym: Foamy histiocytes
has exact synonym: Foamy macrophages
has exact synonym: Lipid-laden histiocytes
has exact synonym: Presence of foam cells
has OBO namespace: human_phenotype
id: HP:0003651
type: Class
comment: Foam cells may contain polymorphic cytoplasmic inclusions consisting of lamellar osmiophilic membranes on electron microscopy.
subclass of: Atherosclerosis
notation: HP:0003651

Recurrent myoglobinuria
tree view: Myoglobinuria
IAO_0000115: Recurring episodes of myoglobinuria, i.e., of the presence of myoglobin in the urine. This is usually a consequence of rhabdomyolysis, i.e., of the destruction of muscle tissue.
has alternative id: HP:0008313
has db xref: MSH:C564018
has db xref: UMLS:C1838877
has exact synonym: Myoglobinuria, episodic
has exact synonym: Myoglobinuria, recurrent
has OBO namespace: human_phenotype
id: HP:0003652
type: Class
subclass of: Myoglobinuria
notation: HP:0003652

Cellular metachromasia
tree view: HP_0011020
IAO_0000115: Metachromasia (also known as metachromacy) is a characteristic color change which certain aniline dyes exhibit when bound to particular substances or when concentrated in solution. For example, the basic dye toluidine blue becomes distinctly pink when bound to cartilage matrix. In the sense used here, the metachromasia refers to a change in color not observed with normal tissues, anomalous staining with the cationic dyes toluidine blue O and Alcian blue resulting from excessive amounts of the polyanionic glycosaminoglycans.
has db xref: UMLS:C4025583
has OBO namespace: human_phenotype
id: HP:0003653
type: Class
comment: This investigation is no longer in common use.
subclass of: HP_0011020
notation: HP:0003653

Reduced dihydropyrimidine dehydrogenase activity
tree view: HP_0012379
IAO_0000115: An abnormal reduction in dihydropyrimidine dehydrogenase (NADP+) activity.
has db xref: MSH:D054067
has db xref: SNOMEDCT_US:77365006
has db xref: UMLS:C1959620
has db xref: UMLS:C4025582
has OBO namespace: human_phenotype
has related synonym: Dihydropyrimidine dehydrogenase deficiency
id: HP:0003654
type: Class
comment: Pyrimidine 5-prime nucleotidase catalyzes the dephosphorylation of the pyrimidine 5-prime monophosphates to the corresponding nucleosides.
subclass of: HP_0012379
notation: HP:0003654

Reduced activity of N-acetylglucosaminyltransferase II
tree view: HP_0012379
IAO_0000115: An abnormality of glycoprotein metabolism related to a decreased rate of alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity.
has db xref: UMLS:C4021725
has exact synonym: Deficient N-acetylglucosaminyltransferase II
has OBO namespace: human_phenotype
id: HP:0003655
type: Class
subclass of: HP_0012379
notation: HP:0003655

Decreased beta-glucocerebrosidase activity
tree view: HP_0012379
IAO_0000115: Reduced activity of the enzyme beta-glucosidase, an enzyme that catalyzes the hydrolysis of glucosylceramide into ceramide and glucose.
has db xref: UMLS:C1842710
has exact synonym: Decreased lysosomal acid glucosylceramidase activity
has OBO namespace: human_phenotype
id: HP:0003656
type: Class
comment: An enzyme that hydrolyzes beta-glucosides in cerebrosides.
subclass of: HP_0012379
notation: HP:0003656

Granular osmiophilic deposits (GROD) in cells
tree view: Abnormality of lysosomal metabolism
has db xref: UMLS:C1859833
has OBO namespace: human_phenotype
id: HP:0003657
type: Class
subclass of: Abnormality of lysosomal metabolism
notation: HP:0003657

Hypomethioninemia
tree view: HP_0010901
IAO_0000115: A decreased concentration of methionine in the blood.
has db xref: UMLS:C1848555
has exact synonym: Decreased plasma methionine
has exact synonym: Decreased serum methionine
has OBO namespace: human_phenotype
id: HP:0003658
type: Class
comment: Normal methionine blood levels are around 30 micromole per liter.
subclass of: HP_0010901
notation: HP:0003658

HP_0003659
IAO_0000231: IAO_0000227
IAO_0100001: Juvenile onset
type: Class
deprecated: true
notation: HP:0003659

HP_0003660
IAO_0000231: IAO_0000227
IAO_0100001: Congenital onset
type: Class
deprecated: true
notation: HP:0003660

HP_0003661
IAO_0000231: IAO_0000227
IAO_0100001: Juvenile onset
type: Class
deprecated: true
notation: HP:0003661

HP_0003662
IAO_0000231: IAO_0000227
IAO_0100001: Adult onset
type: Class
deprecated: true
notation: HP:0003662

HP_0003663
IAO_0000231: IAO_0000227
IAO_0100001: Onset
type: Class
deprecated: true
notation: HP:0003663

HP_0003664
IAO_0000231: IAO_0000227
IAO_0100001: Onset
type: Class
deprecated: true
notation: HP:0003664

Amyotrophy of the musculature of the pelvis
tree view: HP_0008988
IAO_0000115: Muscular atrophy affecting the muscles of the pelvis.
created by: peter
creation date: 2008-04-07T10:57:00Z
has db xref: UMLS:C4025581
has OBO namespace: human_phenotype
id: HP:0003665
type: Class
subclass of: HP_0008988
notation: HP:0003665

HP_0003666
IAO_0000231: IAO_0000227
IAO_0100001: Congenital onset
type: Class
deprecated: true
notation: HP:0003666

HP_0003667
IAO_0000231: IAO_0000227
IAO_0100001: Infantile onset
type: Class
deprecated: true
notation: HP:0003667

HP_0003668
IAO_0000231: IAO_0000227
IAO_0100001: Onset
type: Class
deprecated: true
notation: HP:0003668

HP_0003669
IAO_0000231: IAO_0000227
IAO_0100001: Adult onset
type: Class
deprecated: true
notation: HP:0003669

HP_0003670
IAO_0000231: IAO_0000227
IAO_0100001: Juvenile onset
type: Class
deprecated: true
notation: HP:0003670

HP_0003671
IAO_0000231: IAO_0000227
IAO_0100001: Skeletal muscle atrophy
type: Class
deprecated: true
notation: HP:0003671

HP_0003672
IAO_0000231: IAO_0000227
IAO_0100001: Infantile onset
type: Class
deprecated: true
notation: HP:0003672

HP_0003673
IAO_0000231: IAO_0000227
IAO_0100001: Coronal cleft vertebrae
type: Class
deprecated: true
notation: HP:0003673

Onset
tree view: HP_0031797
IAO_0000115: The age group in which disease manifestations appear.
has alternative id: HP:0003588
has alternative id: HP:0003590
has alternative id: HP:0003597
has alternative id: HP:0003602
has alternative id: HP:0003603
has alternative id: HP:0003618
has alternative id: HP:0003626
has alternative id: HP:0003628
has alternative id: HP:0003630
has alternative id: HP:0003663
has alternative id: HP:0003664
has alternative id: HP:0003668
has alternative id: HP:0011007
has db xref: MSH:D017668
has db xref: UMLS:C0206132
has exact synonym: Age of onset
has exact synonym: Age symptoms begin
has OBO namespace: human_phenotype
id: HP:0003674
type: Class
comment: Adolescent is defined by WHO as a person between 10-19 years of age.
subclass of: HP_0031797
notation: HP:0003674

HP_0003675
IAO_0000231: IAO_0000227
IAO_0100001: Slow progression
type: Class
deprecated: true
notation: HP:0003675

Progressive
tree view: Pace of progression
has db xref: SNOMEDCT_US:252157006
has db xref: SNOMEDCT_US:255314001
has db xref: UMLS:C0205329
has db xref: UMLS:C1864985
has exact synonym: Worsens with time
has OBO namespace: human_phenotype
has related synonym: Progressive disorder
id: HP:0003676
type: Class
subclass of: Pace of progression
notation: HP:0003676

Slow progression
tree view: Pace of progression
has alternative id: HP:0003675
has alternative id: HP:0003681
has db xref: UMLS:C1854494
has exact synonym: Signs and symptoms worsen slowly with time
has exact synonym: Slow disease progression
has exact synonym: Slowly progressive
has exact synonym: Slowly progressive disorder
has OBO namespace: human_phenotype
id: HP:0003677
type: Class
subclass of: Pace of progression
notation: HP:0003677

Rapidly progressive
tree view: Pace of progression
has db xref: UMLS:C1838681
has db xref: UMLS:C1850776
has exact synonym: Rapid progression
has exact synonym: Worsening quickly
has OBO namespace: human_phenotype
has related synonym: Rapidly progressive disorder
id: HP:0003678
type: Class
subclass of: Pace of progression
notation: HP:0003678

Pace of progression
tree view: HP_0031797
has db xref: UMLS:C4025580
has OBO namespace: human_phenotype
id: HP:0003679
type: Class
subclass of: HP_0031797
notation: HP:0003679

Nonprogressive
tree view: Pace of progression
has alternative id: HP:0003685
has db xref: SNOMEDCT_US:702322003
has db xref: UMLS:C3839460
has exact synonym: Does not worsen
has exact synonym: Non-progressive
has exact synonym: Nonprogressive course
has exact synonym: Nonprogressive disorder
has exact synonym: Stationary
has OBO namespace: human_phenotype
id: HP:0003680
type: Class
subclass of: Pace of progression
notation: HP:0003680

HP_0003681
IAO_0000231: IAO_0000227
IAO_0100001: Slow progression
type: Class
deprecated: true
notation: HP:0003681

Variable progression rate
tree view: Pace of progression
has db xref: UMLS:C1970284
has OBO namespace: human_phenotype
id: HP:0003682
type: Class
subclass of: Pace of progression
notation: HP:0003682

Large beaked nose
tree view: HP_0011119
has db xref: UMLS:C4025579
has exact synonym: Large beaked nose
has OBO namespace: human_phenotype
id: HP:0003683
type: Class
subclass of: HP_0011119
notation: HP:0003683

HP_0003684
IAO_0000231: IAO_0000227
IAO_0100001: Spontaneous, recurrent epistaxis
type: Class
deprecated: true
notation: HP:0003684

HP_0003685
IAO_0000231: IAO_0000227
IAO_0100001: Nonprogressive
type: Class
deprecated: true
notation: HP:0003685

HP_0003686
IAO_0000231: IAO_0000227
IAO_0100001: Generalized muscle weakness
type: Class
deprecated: true
notation: HP:0003686

Centrally nucleated skeletal muscle fibers
tree view: Abnormality of muscle fibers
IAO_0000115: An abnormality in which the nuclei of sarcomeres take on an abnormally central localization (or in which this feature is found in an increased proportion of muscle cells).
has db xref: UMLS:C1842170
has exact synonym: Central nuclei
has exact synonym: Centralized nuclei
has exact synonym: Centralized sarcomeric nuclei
has OBO namespace: human_phenotype
id: HP:0003687
type: Class
comment: Normally, the nuclei of muscle cells are located peripherally, immediately under the plasma membrane (sarcolemma).
subclass of: Abnormality of muscle fibers
notation: HP:0003687

Cytochrome C oxidase-negative muscle fibers
tree view: Muscle abnormality related to mitochondrial dysfunction
IAO_0000115: An abnormally reduced activity of the enzyme cytochrome C oxidase in muscle tissue.
has alternative id: HP:0003734
has alternative id: HP:0009006
has db xref: UMLS:C4021724
has exact synonym: Cytochrome c oxidase deficiency in skeletal muscle
has exact synonym: Decreased activity of cytochrome C oxidase in muscle tissue
has exact synonym: Decreased skeletal muscle cytochrome c oxidase activity
has OBO namespace: human_phenotype
id: HP:0003688
type: Class
comment: This abnormality can be assayed by muscle biopsy. Cytochrome C oxidase is an enzyme of the respiratory electron transport chain of mitochondria that is located in the mitochondrial membrane.
subclass of: Muscle abnormality related to mitochondrial dysfunction
notation: HP:0003688

Multiple mitochondrial DNA deletions
tree view: HP_0009141
IAO_0000115: The presence of multiple deletions of mitochondrial DNA (mtDNA).
has alternative id: HP:0003801
has db xref: UMLS:C3277376
has exact synonym: Multiple mtDNA deletions
has OBO namespace: human_phenotype
id: HP:0003689
type: Class
comment: This feature can be demonstrated by muscle biopsy.
subclass of: HP_0009141
notation: HP:0003689

Limb muscle weakness
tree view: Muscle weakness
tree view: HP_0009127
IAO_0000115: Reduced strength and weakness of the muscles of the arms and legs.
has alternative id: HP:0002534
has db xref: SNOMEDCT_US:713514005
has db xref: UMLS:C0587246
has exact synonym: Limb muscle weakness
has exact synonym: Limb weakness
has OBO namespace: human_phenotype
id: HP:0003690
type: Class
subclass of: Muscle weakness
subclass of: HP_0009127
notation: HP:0003690

Scapular winging
tree view: Abnormality of the scapula
tree view: Abnormality of the shoulder girdle musculature
IAO_0000115: Abnormal protrusion of the scapula away from the surface of the back.
has alternative id: HP:0000783
has db xref: MEDDRA:10067628
has db xref: SNOMEDCT_US:17211005
has db xref: UMLS:C0240953
has db xref: UMLS:C4072849
has exact synonym: Scapula alata
has exact synonym: Winged scapulae
has exact synonym: Winged scapulas
has exact synonym: Winged shoulder blade
has OBO namespace: human_phenotype
has related synonym: Scapular weakness
id: HP:0003691
in subset: hposlim core
type: Class
comment: The serratus anterior muscle is responsible for controlling the scapula (shoulder blade), and weakness of this muscle (which may be caused by damage to the long thoracic nerve) can manifest as scular winging.
subclass of: Abnormality of the scapula
subclass of: Abnormality of the shoulder girdle musculature
notation: HP:0003691

HP_0003692
IAO_0000231: IAO_0000227
IAO_0100001: Pelvic girdle muscle weakness
type: Class
deprecated: true
notation: HP:0003692

Distal amyotrophy
tree view: Skeletal muscle atrophy
IAO_0000115: Muscular atrophy affecting muscles in the distal portions of the extremities.
has alternative id: HP:0002484
has alternative id: HP:0002934
has alternative id: HP:0003486
has alternative id: HP:0003699
has alternative id: HP:0006786
has alternative id: HP:0006864
has alternative id: HP:0008937
has alternative id: HP:0008958
has alternative id: HP:0009015
has alternative id: HP:0009040
has alternative id: HP:0009065
has db xref: UMLS:C1848736
has exact synonym: Amyotrophy of distal limb muscles
has exact synonym: Distal amyotrophy, especially of the hands and feet
has exact synonym: Distal limb muscle atrophy
has exact synonym: Distal muscle atrophy
has exact synonym: Distal muscle atrophy, upper and lower limbs
has exact synonym: Distal muscle degeneration
has exact synonym: Distal muscle wasting
has exact synonym: Distal muscular atrophy
has exact synonym: Muscle atrophy, distal
has OBO namespace: human_phenotype
id: HP:0003693
type: Class
comment: Most polyneuropathies affect distal lower extremity miuscles early on. Polyneuropathies are roughly symmeetric in distribution and tend to affect nerves in a length-dependent manner, with the longest nerves first (stocking-glove distribution).
subclass of: Skeletal muscle atrophy
notation: HP:0003693

Late-onset proximal muscle weakness
tree view: Proximal muscle weakness
IAO_0000115: Lack of strength of the proximal musculature occurring late in the clinical course.
has db xref: UMLS:C4025578
has OBO namespace: human_phenotype
id: HP:0003694
type: Class
subclass of: Proximal muscle weakness
notation: HP:0003694

HP_0003695
IAO_0000231: IAO_0000227
IAO_0100001: Shoulder girdle muscle weakness
type: Class
deprecated: true
notation: HP:0003695

Absent epiphysis of the distal phalanx of the 5th finger
tree view: HP_0009198
tree view: HP_0009382
tree view: HP_0010246
IAO_0000115: Absence of the epiphysis located at the proximal end of the distal phalanx of the 5th finger.
created by: peter
creation date: 2008-12-22T01:37:43Z
has db xref: UMLS:C4025577
has exact synonym: Absent end part of the outermost bone of the little finger
has exact synonym: Absent end part of the outermost bone of the pinkie finger
has exact synonym: Absent end part of the outermost bone of the pinky finger
has OBO namespace: human_phenotype
id: HP:0003696
type: Class
subclass of: HP_0009198
subclass of: HP_0009382
subclass of: HP_0010246
notation: HP:0003696

Scapuloperoneal amyotrophy
tree view: Skeletal muscle atrophy
IAO_0000115: Muscular atrophy in the distribution of shoulder girdle and peroneal muscles.
has alternative id: HP:0006920
has alternative id: HP:0008957
has db xref: UMLS:C1842162
has exact synonym: Scapuloperoneal atrophy
has OBO namespace: human_phenotype
id: HP:0003697
type: Class
subclass of: Skeletal muscle atrophy
notation: HP:0003697

Difficulty standing
tree view: Functional motor deficit
has db xref: SNOMEDCT_US:249902000
has db xref: UMLS:C0241237
has exact synonym: Difficulty in standing
has exact synonym: Standing instability
has OBO namespace: human_phenotype
id: HP:0003698
type: Class
subclass of: Functional motor deficit
notation: HP:0003698

HP_0003699
IAO_0000231: IAO_0000227
IAO_0100001: Distal amyotrophy
type: Class
deprecated: true
notation: HP:0003699

Generalized amyotrophy
tree view: Skeletal muscle atrophy
IAO_0000115: Generalized (diffuse, unlocalized) amyotrophy (muscle atrophy) affecting multiple muscles.
has alternative id: HP:0008977
has alternative id: HP:0008987
has alternative id: HP:0008996
has alternative id: HP:0009043
has alternative id: HP:0009052
has alternative id: HP:0009068
has alternative id: HP:0009074
has db xref: UMLS:C1389113
has exact synonym: Diffuse amyotrophy
has exact synonym: Diffuse muscle atrophy
has exact synonym: Diffuse muscle wasting
has exact synonym: Diffuse skeletal muscle wasting
has exact synonym: Generalized muscle atrophy
has exact synonym: Generalized muscle degeneration
has exact synonym: Muscle atrophy, diffuse
has exact synonym: Muscle atrophy, generalized
has exact synonym: Muscular atrophy, generalized
has OBO namespace: human_phenotype
id: HP:0003700
type: Class
subclass of: Skeletal muscle atrophy
notation: HP:0003700

Proximal muscle weakness
tree view: Muscle weakness
IAO_0000115: A lack of strength of the proximal muscles.
has alternative id: HP:0003432
has alternative id: HP:0003475
has alternative id: HP:0007195
has alternative id: HP:0008950
has alternative id: HP:0008961
has alternative id: HP:0008975
has alternative id: HP:0009033
has alternative id: HP:0009075
has db xref: SNOMEDCT_US:249939004
has db xref: UMLS:C0221629
has db xref: UMLS:C1838869
has exact synonym: Muscle weakness, proximal
has exact synonym: Proximal limb muscle weakness
has exact synonym: Proximal limb weakness
has exact synonym: Weakness in muscles of upper arms and upper legs
has OBO namespace: human_phenotype
has related synonym: Proximal neurogenic muscle weakness
id: HP:0003701
type: Class
comment: Removed logical definition that used anonymous class. Outstanding term request in UBERON for proximal muscle organ.
subclass of: Muscle weakness
notation: HP:0003701

HP_0003702
IAO_0000231: IAO_0000227
IAO_0100001: Skeletal muscle atrophy
type: Class
deprecated: true
notation: HP:0003702

HP_0003703
IAO_0000231: IAO_0000227
IAO_0100001: HP_0008981
type: Class
deprecated: true
notation: HP:0003703

Scapuloperoneal weakness
tree view: Muscle weakness
has db xref: UMLS:C1842161
has exact synonym: Neurogenic scapuloperoneal syndrome
has OBO namespace: human_phenotype
id: HP:0003704
type: Class
subclass of: Muscle weakness
notation: HP:0003704

HP_0003705
IAO_0000231: IAO_0000227
IAO_0100001: Myopathy
type: Class
deprecated: true
notation: HP:0003705

HP_0003706
IAO_0000231: IAO_0000227
IAO_0100001: Abnormality of muscle fibers
type: Class
deprecated: true
notation: HP:0003706

Calf muscle pseudohypertrophy
tree view: Abnormality of the calf musculature
IAO_0000115: Enlargement of the muscles of the calf due to their replacement by connective tissue or fat.
has db xref: UMLS:C1839666
has exact synonym: Pseudohypertrophy of the calves
has OBO namespace: human_phenotype
id: HP:0003707
type: Class
comment: Pseudohypertrophy of the calf musculature is commonly seen in certain muscular dystrophies but also with spinal muscular atrophy and other denervating conditions.
subclass of: Abnormality of the calf musculature
notation: HP:0003707

HP_0003708
IAO_0000231: IAO_0000227
IAO_0100001: Abnormality of the musculature
type: Class
deprecated: true
notation: HP:0003708

HP_0003709
IAO_0000231: IAO_0000227
IAO_0100001: Bulbar palsy
type: Class
deprecated: true
notation: HP:0003709

Exercise-induced muscle cramps
tree view: Muscle spasm
IAO_0000115: Sudden and involuntary contractions of one or more muscles brought on by physical exertion.
has alternative id: HP:0008983
has alternative id: HP:0009000
has db xref: UMLS:C1855578
has exact synonym: Exercise-induced muscle cramping
has exact synonym: Exercise-induced muscle cramps
has exact synonym: Muscle cramps following exercise
has exact synonym: Muscle cramps on exercise
has exact synonym: Muscle cramps on exertion
has exact synonym: Muscle cramps with exertion
has OBO namespace: human_phenotype
id: HP:0003710
type: Class
subclass of: Muscle spasm
notation: HP:0003710

HP_0003711
IAO_0000231: IAO_0000227
IAO_0100001: EMG: myopathic abnormalities
type: Class
deprecated: true
notation: HP:0003711

Skeletal muscle hypertrophy
tree view: HP_0030236
tree view: HP_0040290
IAO_0000115: Hypertrophy (increase in size) of muscle cells (as opposed to hyperplasia, which refers to an increase in the number of muscle cells).
has db xref: UMLS:C2265792
has exact synonym: Hypertrophic muscles
has exact synonym: Increased skeletal muscle cells
has exact synonym: Muscle hypertrophy
has exact synonym: Muscular hypertrophy
has OBO namespace: human_phenotype
id: HP:0003712
type: Class
comment: Increased muscle bulk based on clinical observation.
subclass of: HP_0030236
subclass of: HP_0040290
notation: HP:0003712

Muscle fiber necrosis
tree view: Abnormality of muscle fibers
IAO_0000115: Abnormal cell death involving muscle fibers usually associated with break in, or absence of, muscle surface fiber membrane and resulting in irreversible damage to muscle fibers.
has alternative id: HP:0003726
has db xref: UMLS:C1850848
has OBO namespace: human_phenotype
id: HP:0003713
type: Class
subclass of: Abnormality of muscle fibers
notation: HP:0003713

HP_0003714
IAO_0000231: IAO_0000227
IAO_0100001: HP_0008944
type: Class
deprecated: true
notation: HP:0003714

Myofibrillar myopathy
tree view: Myopathy
IAO_0000115: Myofibrillar structural changes characterized by abnormal intracellular accumulation of the intermediate filament desmin and other proteins.
has db xref: MSH:C580316
has db xref: SNOMEDCT_US:699269005
has db xref: UMLS:C2678065
has exact synonym: Myofibrillar changes
has OBO namespace: human_phenotype
id: HP:0003715
type: Class
comment: This feature is demonstrated by muscle biopsy.
subclass of: Myopathy
notation: HP:0003715

Generalized muscular appearance from birth
tree view: HP_0011805
has db xref: UMLS:C1837799
has OBO namespace: human_phenotype
id: HP:0003716
type: Class
subclass of: HP_0011805
notation: HP:0003716

Minimal subcutaneous fat
tree view: Reduced subcutaneous adipose tissue
has db xref: UMLS:C1859442
has exact synonym: Minimal fat below the skin
has OBO namespace: human_phenotype
id: HP:0003717
type: Class
subclass of: Reduced subcutaneous adipose tissue
notation: HP:0003717

HP_0003718
IAO_0000231: IAO_0000227
IAO_0100001: Myalgia
type: Class
deprecated: true
notation: HP:0003718

Muscle mounding
tree view: HP_0010548
has db xref: UMLS:C1853702
has OBO namespace: human_phenotype
id: HP:0003719
type: Class
comment: Transient swelling of muscle induced by percussion.
subclass of: HP_0010548
notation: HP:0003719

Generalized muscle hypertrophy
tree view: Skeletal muscle hypertrophy
IAO_0000115: Hypertrophy (increase in size) of muscle cells in a generalized (not localized) distribution.
has db xref: UMLS:C3805639
has exact synonym: Generalized increase in muscle cell size
has OBO namespace: human_phenotype
id: HP:0003720
type: Class
subclass of: Skeletal muscle hypertrophy
notation: HP:0003720

HP_0003721
IAO_0000231: IAO_0000227
IAO_0100001: Type 1 muscle fiber predominance
type: Class
deprecated: true
notation: HP:0003721

Neck flexor weakness
tree view: Neck muscle weakness
IAO_0000115: Weakness of the muscles involved in neck flexion (sternocleidomastoid, longus capitus, longus colli, and scalenus anterior).
has alternative id: HP:0000469
has db xref: UMLS:C1843637
has exact synonym: Neck flexion weakness
has exact synonym: Neck flexor muscle weakness
has OBO namespace: human_phenotype
id: HP:0003722
type: Class
subclass of: Neck muscle weakness
notation: HP:0003722

HP_0003723
IAO_0000231: IAO_0000227
IAO_0100001: Generalized muscle weakness
type: Class
deprecated: true
notation: HP:0003723

Shoulder girdle muscle atrophy
tree view: Limb-girdle muscle atrophy
IAO_0000115: Amyotrophy affecting the muscles of the shoulder girdle.
has db xref: UMLS:C1847766
has exact synonym: Shoulder girdle atrophy
has exact synonym: Shoulder girdle muscle wasting
has exact synonym: Shoulder-girdle muscle atrophy
has OBO namespace: human_phenotype
id: HP:0003724
type: Class
subclass of: Limb-girdle muscle atrophy
notation: HP:0003724

Firm muscles
tree view: HP_0011805
has db xref: UMLS:C1850656
has OBO namespace: human_phenotype
id: HP:0003725
type: Class
subclass of: HP_0011805
notation: HP:0003725

HP_0003726
IAO_0000231: IAO_0000227
IAO_0100001: Muscle fiber necrosis
type: Class
deprecated: true
notation: HP:0003726

HP_0003727
IAO_0000231: IAO_0000227
IAO_0100001: Tongue fasciculations
type: Class
deprecated: true
notation: HP:0003727

HP_0003728
IAO_0000231: IAO_0000227
IAO_0100001: Late-onset distal muscle weakness
type: Class
deprecated: true
notation: HP:0003728

Enteroviral dermatomyositis syndrome
tree view: Recurrent enteroviral infections
has db xref: UMLS:C3806660
has OBO namespace: human_phenotype
id: HP:0003729
type: Class
subclass of: Recurrent enteroviral infections
notation: HP:0003729

EMG: myotonic runs
tree view: Myotonia
IAO_0000115: Spontaneous, repetitive electrical activity demonstrated by electromyography (EMG).
has db xref: UMLS:C4020837
has db xref: UMLS:C4025576
has OBO namespace: human_phenotype
has related synonym: EMG: spontaneous, repetitive electrical activity
id: HP:0003730
type: Class
comment: This is a characteristic abnormality seen in the myotonias and periodic paralyses.
subclass of: Myotonia
notation: HP:0003730

Quadriceps muscle weakness
tree view: HP_0008994
IAO_0000115: Weakness of the quadriceps muscle (that is, of the muscle fasciculus of quadriceps femoris).
has db xref: SNOMEDCT_US:300948004
has db xref: UMLS:C0577655
has exact synonym: Quadriceps weakness
has OBO namespace: human_phenotype
id: HP:0003731
type: Class
subclass of: HP_0008994
notation: HP:0003731

HP_0003732
IAO_0000231: IAO_0000227
IAO_0100001: Decreased muscle mass
type: Class
deprecated: true
notation: HP:0003732

Thigh hypertrophy
tree view: HP_0008968
IAO_0000115: Muscle hypertrophy affecting the thighs.
has db xref: UMLS:C1846674
has exact synonym: Increased thigh size
has OBO namespace: human_phenotype
id: HP:0003733
type: Class
comment: Proximal lower limb hypertrophy
subclass of: HP_0008968
notation: HP:0003733

HP_0003734
IAO_0000231: IAO_0000227
IAO_0100001: Cytochrome C oxidase-negative muscle fibers
type: Class
deprecated: true
notation: HP:0003734

HP_0003735
IAO_0000231: IAO_0000227
IAO_0100001: HP_0011805
type: Class
deprecated: true
notation: HP:0003735

Autophagic vacuoles
tree view: Abnormality of muscle fibers
IAO_0000115: The lysosomal-vacuolar pathway has a role in the controlled intracellular digestion of macromolecules such as protein complexes and organelles. This feature refers to the presence of an abnormally increased number of autophagic vacuoles in muscle tissue.
has db xref: UMLS:C0544966
has OBO namespace: human_phenotype
id: HP:0003736
type: Class
subclass of: Abnormality of muscle fibers
notation: HP:0003736

Mitochondrial myopathy
tree view: Muscle abnormality related to mitochondrial dysfunction
IAO_0000115: A type of myopathy associated with mitochondrial disease and characterized by findings on biopsy such as ragged red muscle fibers.
has alternative id: HP:0008960
has db xref: MSH:D017240
has db xref: SNOMEDCT_US:16851005
has db xref: UMLS:C0162670
has OBO namespace: human_phenotype
id: HP:0003737
type: Class
comment: This is a bundled term that should not be used for future annotations.
subclass of: Muscle abnormality related to mitochondrial dysfunction
notation: HP:0003737

Exercise-induced myalgia
tree view: Myalgia
IAO_0000115: The occurrence of an unusually high amount of muscle pain following exercise.
has db xref: UMLS:C1850830
has exact synonym: Exercise-induced muscle pain
has exact synonym: Muscle pain on exercise
has exact synonym: Muscle pain with exercise
has exact synonym: Muscle pain, exercise-induced
has OBO namespace: human_phenotype
id: HP:0003738
type: Class
subclass of: Myalgia
notation: HP:0003738

Myoclonic spasms
tree view: Myoclonus
has alternative id: HP:0006963
has db xref: UMLS:C3806442
has OBO namespace: human_phenotype
id: HP:0003739
type: Class
subclass of: Myoclonus
notation: HP:0003739

Myotonia with warm-up phenomenon
tree view: Myotonia
IAO_0000115: Myotonia that occurs after a period of rest and decreases with continuing exercise.
has db xref: UMLS:C4025575
has OBO namespace: human_phenotype
id: HP:0003740
type: Class
subclass of: Myotonia
notation: HP:0003740

Congenital muscular dystrophy
tree view: Muscular dystrophy
has alternative id: HP:0003793
has db xref: SNOMEDCT_US:240059009
has db xref: UMLS:C0699743
has exact synonym: Muscular dystrophy, congenital
has OBO namespace: human_phenotype
id: HP:0003741
type: Class
subclass of: Muscular dystrophy
notation: HP:0003741

HP_0003742
IAO_0000231: IAO_0000227
IAO_0100001: Myopathy
type: Class
deprecated: true
notation: HP:0003742

Genetic anticipation
tree view: Mode of inheritance
IAO_0000115: A mode of inheritance in which the severity of a disorder increases or the age of onset decreases as the disorder is passed from one generation to the next.
has db xref: MSH:D020132
has db xref: UMLS:C0600498
has OBO namespace: human_phenotype
id: HP:0003743
type: Class
comment: This mode of inheritance is characteristic of trinucleotide and some other repeat disorders.
subclass of: Mode of inheritance
notation: HP:0003743

Genetic anticipation with paternal anticipation bias
tree view: Genetic anticipation
IAO_0000115: A type of genetic anticipation observed predominantly upon transmission from affected males.
has db xref: UMLS:C1834002
has db xref: UMLS:C4025574
has OBO namespace: human_phenotype
has related synonym: Paternal anticipation bias
id: HP:0003744
type: Class
subclass of: Genetic anticipation
notation: HP:0003744

Sporadic
tree view: Mode of inheritance
IAO_0000115: Cases of the disease in question occur without a previous family history, i.e., as isolated cases without being transmitted from a parent and without other siblings being affected.
has alternative id: HP:0001420
has alternative id: HP:0003747
has alternative id: HP:0003769
has db xref: UMLS:C1853237
has exact synonym: Isolated cases
has exact synonym: No previous family history
has OBO namespace: human_phenotype
id: HP:0003745
type: Class
subclass of: Mode of inheritance
notation: HP:0003745

HP_0003746
IAO_0000231: IAO_0000227
IAO_0100001: Skeletal muscle atrophy
type: Class
deprecated: true
notation: HP:0003746

HP_0003747
IAO_0000231: IAO_0000227
IAO_0100001: Sporadic
type: Class
deprecated: true
notation: HP:0003747

HP_0003748
IAO_0000231: IAO_0000227
IAO_0100001: HP_0008956
type: Class
deprecated: true
notation: HP:0003748

Pelvic girdle muscle weakness
tree view: Abnormality of the hip-girdle musculature
tree view: Limb-girdle muscle weakness
IAO_0000115: Weakness of the muscles of the pelvic girdle (also known as the hip girdle), that is, lack of strength of the muscles around the pelvis.
has alternative id: HP:0003692
has alternative id: HP:0008999
has alternative id: HP:0009036
has db xref: SNOMEDCT_US:249941003
has db xref: UMLS:C0427064
has exact synonym: Hip girdle muscle weakness
has exact synonym: Hip girdle weakness
has exact synonym: Hip-girdle muscle weakness
has exact synonym: Pelvic girdle weakness
has OBO namespace: human_phenotype
id: HP:0003749
type: Class
subclass of: Abnormality of the hip-girdle musculature
subclass of: Limb-girdle muscle weakness
notation: HP:0003749

Increased muscle fatiguability
tree view: HP_0011804
IAO_0000115: An abnormal, increased fatiguability of the musculature.
has db xref: MSH:D018763
has db xref: SNOMEDCT_US:80449002
has db xref: UMLS:C0242979
has db xref: UMLS:C4025573
has OBO namespace: human_phenotype
has related synonym: Muscle fatigue
id: HP:0003750
type: Class
subclass of: HP_0011804
notation: HP:0003750

HP_0003751
IAO_0000231: IAO_0000227
IAO_0100001: EMG abnormality
type: Class
deprecated: true
notation: HP:0003751

Episodic flaccid weakness
tree view: HP_0010547
IAO_0000115: Recurrent episodes of muscle flaccidity, a type of paralysis in which a muscle becomes soft and yields to passive stretching.
has db xref: UMLS:C4025572
has OBO namespace: human_phenotype
id: HP:0003752
type: Class
subclass of: HP_0010547
notation: HP:0003752

HP_0003753
IAO_0000231: IAO_0000227
IAO_0100001: EMG abnormality
type: Class
deprecated: true
notation: HP:0003753

HP_0003754
IAO_0000231: IAO_0000227
IAO_0100001: Myotonia
type: Class
deprecated: true
notation: HP:0003754

Type 1 fibers relatively smaller than type 2 fibers
tree view: HP_0012084
IAO_0000115: The presence of abnormal muscle fiber size such that type 1 fibers are smaller than type 2 fibers.
has db xref: UMLS:C4025571
has OBO namespace: human_phenotype
id: HP:0003755
type: Class
comment: This feature can only be observed on muscle biopsy.
subclass of: HP_0012084
notation: HP:0003755

Skeletal myopathy
tree view: Myopathy
has db xref: SNOMEDCT_US:75047002
has db xref: UMLS:C1533847
has OBO namespace: human_phenotype
id: HP:0003756
type: Class
subclass of: Myopathy
notation: HP:0003756

HP_0003757
IAO_0000231: IAO_0000227
IAO_0100001: Loss of subcutaneous adipose tissue in limbs
type: Class
deprecated: true
notation: HP:0003757

Reduced subcutaneous adipose tissue
tree view: Abnormality of subcutaneous fat tissue
tree view: HP_0040063
IAO_0000115: A reduced amount of fat tissue in the lowest layer of the integument. This feature can be appreciated by a reduced skinfold thickness.
has alternative id: HP:0001002
has alternative id: HP:0007409
has db xref: SNOMEDCT_US:248316006
has db xref: UMLS:C0424631
has db xref: UMLS:C1857657
has exact synonym: Decreased subcutaneous adipose tissue
has exact synonym: Decreased subcutaneous fat
has exact synonym: Reduced fat tissue below the skin
has exact synonym: Reduced subcutaneous fat
has exact synonym: Scanty adipose tissue
has OBO namespace: human_phenotype
id: HP:0003758
type: Class
subclass of: Abnormality of subcutaneous fat tissue
subclass of: HP_0040063
notation: HP:0003758

Hypoplasia of lymphatic vessels
tree view: HP_0100766
IAO_0000115: Congenital underdevelopment of lymph vessels.
has db xref: UMLS:C4025570
has exact synonym: Underdeveloped lymphatic vessels
has OBO namespace: human_phenotype
id: HP:0003759
type: Class
comment: This feature can be demonstrated by lymphography.
subclass of: HP_0100766
notation: HP:0003759

Percussion-induced rapid rolling muscle contractions
tree view: HP_0010548
IAO_0000115: Mechanical percussion (i.e., striking a muscle with a reflex hammer) leads to spreading waves of muscle contractions that begin proximally and spread laterally across the muscle.
has db xref: UMLS:C4280804
has OBO namespace: human_phenotype
id: HP:0003760
type: Class
subclass of: HP_0010548
notation: HP:0003760

Calcinosis
tree view: HP_0011805
IAO_0000115: Formation of calcium deposits in any soft tissue.
has db xref: MSH:D002114
has db xref: SNOMEDCT_US:6595006
has db xref: UMLS:C0006663
has exact synonym: Calcium buildup in soft tissues of body
has OBO namespace: human_phenotype
id: HP:0003761
type: Class
subclass of: HP_0011805
notation: HP:0003761

Uterus didelphys
tree view: HP_0031105
IAO_0000115: A malformation of the uterus in which the uterus is present as a paired organ as a result of the failure of fusion of the mullerian ducts during embryogenesis.
has db xref: SNOMEDCT_US:15545001
has db xref: SNOMEDCT_US:22504001
has db xref: UMLS:C0152240
has db xref: UMLS:C0266393
has OBO namespace: human_phenotype
has related synonym: Double uterus
id: HP:0003762
type: Class
subclass of: HP_0031105
notation: HP:0003762

Bruxism
tree view: Sleep disturbance
IAO_0000115: Bruxism is characterized by the grinding of the teeth including the clenching of the jaw and typically occur during sleep.
has db xref: MSH:D002012
has db xref: SNOMEDCT_US:191983006
has db xref: SNOMEDCT_US:90207007
has db xref: UMLS:C0006325
has exact synonym: Teeth grinding
has OBO namespace: human_phenotype
id: HP:0003763
type: Class
subclass of: Sleep disturbance
notation: HP:0003763

Nevus
tree view: HP_0011355
IAO_0000115: A nevus is a type of hamartoma that is a circumscribed stable malformation of the skin.
has db xref: MSH:D009506
has db xref: MSH:D009508
has db xref: SNOMEDCT_US:21119008
has db xref: SNOMEDCT_US:400096001
has db xref: SNOMEDCT_US:51697005
has db xref: UMLS:C0027960
has db xref: UMLS:C0027962
has exact synonym: Mole
has exact synonym: Naevus
has OBO namespace: human_phenotype
has related synonym: Naevi
has related synonym: Nevi
id: HP:0003764
type: Class
comment: The word Nevus derives from the Latin word Knee-vus meaning birthmark or mole.
subclass of: HP_0011355
notation: HP:0003764

Psoriasiform dermatitis
tree view: HP_0011123
IAO_0000115: A skin abnormality characterized by redness and irritation, with thick, red skin that displays flaky, silver-white patches (scales).
has db xref: MSH:D011565
has db xref: SNOMEDCT_US:9014002
has db xref: UMLS:C0033860
has exact synonym: Psoriasis
has OBO namespace: human_phenotype
id: HP:0003765
type: Class
comment: The label Psoriaform dermatitis is used to emphasize that this term is meant to describe the morhpological abnormality of the skin and not all of the manifestations of the disease psoriasis (which can also include itching and nail pitsand other manifestations).
subclass of: HP_0011123
notation: HP:0003765

HP_0003766
IAO_0000231: IAO_0000227
IAO_0100001: HP_0010230
type: Class
deprecated: true
notation: HP:0003766

HP_0003767
IAO_0000231: IAO_0000227
IAO_0100001: Intellectual disability
type: Class
deprecated: true
notation: HP:0003767

Periodic paralysis
tree view: Paralysis
IAO_0000115: Episodes of muscle weakness.
has db xref: SNOMEDCT_US:198030008
has db xref: UMLS:C1279412
has exact synonym: Episodic paralysis
has OBO namespace: human_phenotype
id: HP:0003768
type: Class
subclass of: Paralysis
notation: HP:0003768

HP_0003769
IAO_0000231: IAO_0000227
IAO_0100001: Sporadic
type: Class
deprecated: true
notation: HP:0003769

HP_0003770
IAO_0000231: IAO_0000227
IAO_0100001: HP_0006297
type: Class
deprecated: true
notation: HP:0003770

Pulp stones
tree view: HP_0006479
IAO_0000115: Multiple punctate calcifications in the dental pulp.
has db xref: MSH:D003784
has db xref: SNOMEDCT_US:57602001
has db xref: UMLS:C1527284
has db xref: UMLS:C4280259
has db xref: UMLS:C4280546
has exact synonym: Pulp calcifications
has exact synonym: Pulp denticles
has exact synonym: Pulp stones
has narrow synonym: False denticles
has narrow synonym: False pulp stones
has narrow synonym: True denticles
has narrow synonym: True pulp stones
has OBO namespace: human_phenotype
id: HP:0003771
type: Class
subclass of: HP_0006479
notation: HP:0003771

HP_0003772
IAO_0000231: IAO_0000227
IAO_0100001: HP_0006335
type: Class
deprecated: true
notation: HP:0003772

HP_0003773
IAO_0000231: IAO_0000227
IAO_0100001: 2-3 toe syndactyly
type: Class
deprecated: true
notation: HP:0003773

Stage 5 chronic kidney disease
tree view: HP_0012622
IAO_0000115: A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine.
has alternative id: HP:0000101
has alternative id: HP:0004720
has alternative id: HP:0004725
has alternative id: HP:0004733
has alternative id: HP:0004738
has alternative id: HP:0005570
has db xref: SNOMEDCT_US:433146000
has db xref: UMLS:C2316810
has exact synonym: Chronic renal failure
has exact synonym: End stage renal disease
has exact synonym: End stage renal failure
has exact synonym: End-stage renal disease
has exact synonym: End-stage renal failure
has exact synonym: Stage 5 chronic kidney disease
has OBO namespace: human_phenotype
has related synonym: Renal failure, endstage
id: HP:0003774
type: Class
comment: Equivalent with the National Kidney Foundation's definition of stage 5 chronic kidney disease.
subclass of: HP_0012622
notation: HP:0003774

HP_0003775
IAO_0000231: IAO_0000227
IAO_0100001: Facial asymmetry
type: Class
deprecated: true
notation: HP:0003775

HP_0003776
IAO_0000231: IAO_0000227
IAO_0100001: HP_0010719
type: Class
deprecated: true
notation: HP:0003776

Pili torti
tree view: Abnormal hair laboratory examination
IAO_0000115: Pili (from Latin pilus, hair) torti (from Latin tortus, twisted) refers to short and brittle hairs that appear flattened and twisted when viewed through a microscope.
has db xref: MSH:C562485
has db xref: SNOMEDCT_US:17170005
has db xref: UMLS:C0263491
has exact synonym: Flattened and twisted hair
has OBO namespace: human_phenotype
id: HP:0003777
in subset: hposlim core
type: Class
subclass of: Abnormal hair laboratory examination
notation: HP:0003777

Short mandibular rami
tree view: Micrognathia
tree view: HP_3000003
has alternative id: HP:0005447
has broad synonym: Decreased size of mandibular ramus
has db xref: UMLS:C1841648
has db xref: UMLS:C4280545
has exact synonym: Short body and ramus of mandible
has exact synonym: Short mandibular ramus
has exact synonym: Underdeveloped mandibular rami
has narrow synonym: Decreased height of mandibular ramus
has OBO namespace: human_phenotype
id: HP:0003778
type: Class
subclass of: Micrognathia
subclass of: HP_3000003
notation: HP:0003778

Antegonial notching of mandible
tree view: HP_0010753
has db xref: UMLS:C1844509
has exact synonym: Deep antegonial notch of mandible
has exact synonym: Large antegonial notch of mandible
has OBO namespace: human_phenotype
id: HP:0003779
type: Class
subclass of: HP_0010753
notation: HP:0003779

HP_0003780
IAO_0000231: IAO_0000227
IAO_0100001: Decreased skull ossification
type: Class
deprecated: true
notation: HP:0003780

Excessive salivation
tree view: HP_0100755
IAO_0000115: Excessive production of saliva.
has db xref: MSH:D012798
has db xref: SNOMEDCT_US:275295002
has db xref: SNOMEDCT_US:53827007
has db xref: SNOMEDCT_US:62718007
has db xref: UMLS:C0013132
has db xref: UMLS:C0037036
has exact synonym: Excessive production of saliva
has exact synonym: Excessive salivation
has exact synonym: Hypersalivation
has exact synonym: Mouth watering
has exact synonym: Oversalivation
has exact synonym: Ptyalism
has exact synonym: Watery mouth
has OBO namespace: human_phenotype
id: HP:0003781
type: Class
subclass of: HP_0100755
notation: HP:0003781

Eunuchoid habitus
tree view: Decreased body weight
IAO_0000115: A body habitus that is tall, slim and underweight, with long legs and long arms (i.e., arm span exceeds height by 5 cm or more).
has db xref: UMLS:C4025569
has OBO namespace: human_phenotype
id: HP:0003782
type: Class
subclass of: Decreased body weight
notation: HP:0003782

Externally rotated/abducted legs
tree view: Abnormality of the lower limb
has db xref: UMLS:C1970461
has OBO namespace: human_phenotype
id: HP:0003783
type: Class
subclass of: Abnormality of the lower limb
notation: HP:0003783

Type 1 collagen overmodification
tree view: HP_0011862
has db xref: UMLS:C1970463
has OBO namespace: human_phenotype
id: HP:0003784
type: Class
subclass of: HP_0011862
notation: HP:0003784

Decreased CSF homovanillic acid
tree view: HP_0025454
IAO_0000115: Decreased concentration of homovanillic acid (HVA) in the cerebrospinal fluid. HVA is a metabolite of dopamine.
has db xref: UMLS:C4280803
has OBO namespace: human_phenotype
id: HP:0003785
type: Class
subclass of: HP_0025454
notation: HP:0003785

HP_0003786
IAO_0000231: IAO_0000227
IAO_0100001: Constipation
type: Class
deprecated: true
notation: HP:0003786

Type 1 and type 2 muscle fiber minicore regions
tree view: Minicore myopathy
IAO_0000115: Multiple small zones of sarcomeric disorganization and lack of oxidative activity (known as minicores) in type 1 and type 2 muscle fibers.
has db xref: UMLS:C4025568
has OBO namespace: human_phenotype
id: HP:0003787
type: Class
subclass of: Minicore myopathy
notation: HP:0003787

HP_0003788
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009055
type: Class
deprecated: true
notation: HP:0003788

Minicore myopathy
tree view: Myopathy
IAO_0000115: Multiple small zones of sarcomeric disorganization and lack of oxidative activity (known as minicores) in muscle fibers.
has alternative id: HP:0003804
has db xref: MSH:C564969
has db xref: UMLS:C1850674
has OBO namespace: human_phenotype
id: HP:0003789
type: Class
subclass of: Myopathy
notation: HP:0003789

HP_0003790
IAO_0000231: IAO_0000227
IAO_0100001: HP_0100303
type: Class
deprecated: true
notation: HP:0003790

Deposits immunoreactive to beta-amyloid protein
tree view: Abnormality of muscle fibers
has db xref: UMLS:C1853934
has OBO namespace: human_phenotype
id: HP:0003791
type: Class
subclass of: Abnormality of muscle fibers
notation: HP:0003791

HP_0003792
IAO_0000231: IAO_0000227
IAO_0100001: Myotonia
type: Class
deprecated: true
notation: HP:0003792

HP_0003793
IAO_0000231: IAO_0000227
IAO_0100001: Congenital muscular dystrophy
type: Class
deprecated: true
notation: HP:0003793

HP_0003794
IAO_0000231: IAO_0000227
IAO_0100001: Delayed cranial suture closure
type: Class
deprecated: true
notation: HP:0003794

Short middle phalanx of toe
tree view: Short toe
tree view: HP_0010183
IAO_0000115: Developmental hypoplasia (shortening) of middle phalanx of toe.
has db xref: UMLS:C4021723
has exact synonym: Short middle bones (feet)
has exact synonym: Short middle phalanges of toes
has OBO namespace: human_phenotype
id: HP:0003795
type: Class
subclass of: Short toe
subclass of: HP_0010183
notation: HP:0003795

Irregular iliac crest
tree view: Abnormality of the ilium
IAO_0000115: Irregularity of the iliac crest, which is the superior border of the wing of the ilium.
has db xref: UMLS:C1855180
has OBO namespace: human_phenotype
id: HP:0003796
type: Class
subclass of: Abnormality of the ilium
notation: HP:0003796

Limb-girdle muscle atrophy
tree view: Skeletal muscle atrophy
tree view: HP_0009127
IAO_0000115: Muscular atrophy affecting the muscles of the limb girdle.
has broad synonym: Limb-girdle myopathy
has db xref: UMLS:C1404521
has db xref: UMLS:C1842552
has exact synonym: Wasting of limb-girdle muscle
has OBO namespace: human_phenotype
id: HP:0003797
type: Class
subclass of: Skeletal muscle atrophy
subclass of: HP_0009127
notation: HP:0003797

Nemaline bodies
tree view: HP_0100303
IAO_0000115: Nemaline rods are abnormal bodies that can occur in skeletal muscle fibers. The rods can be observed on histological analysis of muscle biopsy tissue or upon electron microscopy, where they appear either as extensions of sarcomeric Z-lines, in random array without obvious attachment to Z-lines (often in areas devoid of sarcomeres) or in large clusters localized at the sarcolemma or intermyofibrillar spaces.
has db xref: UMLS:C3808039
has exact synonym: Nemaline rods
has OBO namespace: human_phenotype
id: HP:0003798
type: Class
comment: This finding can be demonstrated by muscle biopsy, which shows nemaline bodies (rods) on Gomori trichrome staining. Rod bodies characteristically stain red with MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative with ATPase, NADH and SDH as they lack myosin and mitochondria. Rods are characteristic of nemaline myopathy but also seen in central core disease and various other diseases which include neurogenic disorders (amyotrophic lateral sclerosis, spinal muscular atrophy, undefined), inflammatory myopathies (dermatomyositis, polymyositis, periarteritis nodosa), metabolic myopathy (mitochondrial myopathy), muscular dystrophy (LGMD) and some undefined myopathies (Liouet al; Diagnostic role of nemaline rod in neuromuscular disease. Acta Neurol Sinica 1992;1: 218-23).
subclass of: HP_0100303
notation: HP:0003798

Marked delay in bone age
tree view: Delayed skeletal maturation
has alternative id: HP:0005742
has alternative id: HP:0005843
has db xref: UMLS:C1868549
has exact synonym: Marked delay in bone age
has exact synonym: Marked retardation in skeletal maturation
has exact synonym: Markedly retarded bone age
has OBO namespace: human_phenotype
id: HP:0003799
type: Class
subclass of: Delayed skeletal maturation
notation: HP:0003799

Muscle abnormality related to mitochondrial dysfunction
tree view: Abnormality of the musculature
has db xref: UMLS:C4025566
has OBO namespace: human_phenotype
id: HP:0003800
type: Class
subclass of: Abnormality of the musculature
notation: HP:0003800

HP_0003801
IAO_0000231: IAO_0000227
IAO_0100001: Multiple mitochondrial DNA deletions
type: Class
deprecated: true
notation: HP:0003801

HP_0003802
IAO_0000231: IAO_0000227
IAO_0100001: Myopathy
type: Class
deprecated: true
notation: HP:0003802

Type 1 muscle fiber predominance
tree view: Abnormality of muscle fibers
IAO_0000115: An abnormal predominance of type I muscle fibers (in general, this feature can only be observed on muscle biopsy).
has alternative id: HP:0003721
has alternative id: HP:0003807
has db xref: UMLS:C1854387
has exact synonym: Type I muscle fiber predominance
has OBO namespace: human_phenotype
id: HP:0003803
type: Class
comment: This finding is demonstrated by muscle biopsy.
subclass of: Abnormality of muscle fibers
notation: HP:0003803

HP_0003804
IAO_0000231: IAO_0000227
IAO_0100001: Minicore myopathy
type: Class
deprecated: true
notation: HP:0003804

Rimmed vacuoles
tree view: Abnormality of muscle fibers
IAO_0000115: Presence of abnormal vacuoles (membrane-bound organelles) in the sarcolemma. On histological staining with hematoxylin and eosin, rimmed vacuoles are popcorn-like clear vacuoles with a densely blue rim. The vacuoles are often associated with cytoplasmic and occasionally intranuclear eosinophilic inclusions.
has alternative id: HP:0009029
has db xref: UMLS:C1853932
has exact synonym: 'rimmed vacuoles' on biopsy
has exact synonym: 'rimmed' vacuoles on biopsy
has OBO namespace: human_phenotype
id: HP:0003805
type: Class
comment: Rimmed vacuoles are characteristic for inclusion-bosy myositis, but are also seen an a number of other diseases. This term implies that rimmed vacuoles are found histologically. In some cases, the majority of muscle fibers are involved, but in others, rimmed vacuoles can be found in only a minority of fibers.
subclass of: Abnormality of muscle fibers
notation: HP:0003805

HP_0003806
IAO_0000231: IAO_0000227
IAO_0100001: Muscular dystrophy
type: Class
deprecated: true
notation: HP:0003806

HP_0003807
IAO_0000231: IAO_0000227
IAO_0100001: Type 1 muscle fiber predominance
type: Class
deprecated: true
notation: HP:0003807

Abnormal muscle tone
tree view: HP_0011804
has db xref: UMLS:C0852413
has exact synonym: Abnormal muscle tone
has OBO namespace: human_phenotype
id: HP:0003808
type: Class
subclass of: HP_0011804
notation: HP:0003808

Reduced intrathoracic adipose tissue
tree view: HP_0040063
IAO_0000115: An abnormally reduced amount of adipose tissue in the thoracic cavity.
has db xref: UMLS:C1837797
has OBO namespace: human_phenotype
id: HP:0003809
type: Class
subclass of: HP_0040063
notation: HP:0003809

Late-onset distal muscle weakness
tree view: Distal muscle weakness
has alternative id: HP:0003728
has db xref: UMLS:C4025565
has OBO namespace: human_phenotype
id: HP:0003810
type: Class
subclass of: Distal muscle weakness
notation: HP:0003810

Neonatal death
tree view: HP_0011420
IAO_0000115: Death within the first 28 days of life.
has alternative id: HP:0003820
has alternative id: HP:0003824
has db xref: MSH:D066087
has db xref: SNOMEDCT_US:276506001
has db xref: UMLS:C0410916
has exact synonym: Neonatal lethal
has OBO namespace: human_phenotype
id: HP:0003811
type: Class
subclass of: HP_0011420
notation: HP:0003811

Phenotypic variability
tree view: HP_0012823
IAO_0000115: A variability of phenotypic features.
has alternative id: HP:0003813
has alternative id: HP:0003815
has alternative id: HP:0003821
has alternative id: HP:0003822
has db xref: UMLS:C1837514
has db xref: UMLS:C1839039
has db xref: UMLS:C1850667
has db xref: UMLS:C1866210
has exact synonym: Clinical heterogeneity
has exact synonym: Highly variable clinical phenotype
has exact synonym: Highly variable phenotype
has exact synonym: Highly variable phenotype and severity
has exact synonym: Highly variable phenotype, even within families
has exact synonym: Variable phenotype
has exact synonym: Variable phenotypic severity
has OBO namespace: human_phenotype
id: HP:0003812
type: Class
comment: This term can be applied to disease entities but not to individuals. It may be made obsolete in future versions of the HPO.
subclass of: HP_0012823
notation: HP:0003812

HP_0003813
IAO_0000231: IAO_0000227
IAO_0100001: Phenotypic variability
type: Class
deprecated: true
notation: HP:0003813

HP_0003814
IAO_0000231: IAO_0000227
IAO_0100001: Variable expressivity
type: Class
deprecated: true
notation: HP:0003814

HP_0003815
IAO_0000231: IAO_0000227
IAO_0100001: Phenotypic variability
type: Class
deprecated: true
notation: HP:0003815

HP_0003816
IAO_0000231: IAO_0000227
IAO_0100001: Death in infancy
type: Class
deprecated: true
notation: HP:0003816

HP_0003817
IAO_0000231: IAO_0000227
IAO_0100001: Death in infancy
type: Class
deprecated: true
notation: HP:0003817

HP_0003818
IAO_0000231: IAO_0000227
IAO_0100001: Death in infancy
type: Class
deprecated: true
notation: HP:0003818

Death in childhood
tree view: HP_0011420
IAO_0000115: Death in during childhood, defined here as between the ages of 2 and 10 years.
has alternative id: HP:0001432
has alternative id: HP:0004149
has db xref: UMLS:C1843392
has exact synonym: Death in childhood
has OBO namespace: human_phenotype
id: HP:0003819
type: Class
comment: previous def was: 'has part' some (premature and ('inheres in' some death) and ('has modifier' some abnormal))
subclass of: HP_0011420
notation: HP:0003819

HP_0003820
IAO_0000231: IAO_0000227
IAO_0100001: Neonatal death
type: Class
deprecated: true
notation: HP:0003820

HP_0003821
IAO_0000231: IAO_0000227
IAO_0100001: Phenotypic variability
type: Class
deprecated: true
notation: HP:0003821

HP_0003822
IAO_0000231: IAO_0000227
IAO_0100001: Phenotypic variability
type: Class
deprecated: true
notation: HP:0003822

HP_0003823
IAO_0000231: IAO_0000227
IAO_0100001: Death in infancy
type: Class
deprecated: true
notation: HP:0003823

HP_0003824
IAO_0000231: IAO_0000227
IAO_0100001: Neonatal death
type: Class
deprecated: true
notation: HP:0003824

HP_0003825
IAO_0000231: IAO_0000227
IAO_0100001: Variable expressivity
type: Class
deprecated: true
notation: HP:0003825

Stillbirth
tree view: HP_0011420
IAO_0000115: Death of the fetus in utero after at least 20 weeks of gestation.
has alternative id: HP:0001624
has alternative id: HP:0001625
has db xref: MSH:D005313
has db xref: MSH:D050497
has db xref: SNOMEDCT_US:237364002
has db xref: SNOMEDCT_US:276507005
has db xref: UMLS:C0015927
has db xref: UMLS:C0595939
has exact synonym: Stillbirth
has exact synonym: Stillborn
has OBO namespace: human_phenotype
has related synonym: Fetal death
id: HP:0003826
type: Class
subclass of: HP_0011420
notation: HP:0003826

HP_0003827
IAO_0000231: IAO_0000227
IAO_0100001: Death in infancy
type: Class
deprecated: true
notation: HP:0003827

Variable expressivity
tree view: Phenotypic variability
IAO_0000115: A variable severity of phenotypic features.
has alternative id: HP:0003814
has alternative id: HP:0003825
has db xref: UMLS:C1861403
has db xref: UMLS:C1866862
has exact synonym: Variable severity
has OBO namespace: human_phenotype
has related synonym: Highly variable severity
id: HP:0003828
type: Class
comment: This term can be applied to disease entities but not to individuals. It may be made obsolete in future versions of the HPO.
subclass of: Phenotypic variability
notation: HP:0003828

Incomplete penetrance
tree view: Phenotypic variability
IAO_0000115: A situation in which mutation carriers do not show clinically evident phenotypic abnormalities.
has alternative id: HP:0003830
has db xref: UMLS:C1836598
has exact synonym: Reduced penetrance
has OBO namespace: human_phenotype
id: HP:0003829
type: Class
comment: This term can be applied to disease entities but not to individuals. It may be made obsolete in future versions of the HPO.
subclass of: Phenotypic variability
notation: HP:0003829

HP_0003830
IAO_0000231: IAO_0000227
IAO_0100001: Incomplete penetrance
type: Class
deprecated: true
notation: HP:0003830

Age-dependent penetrance
tree view: Incomplete penetrance
IAO_0000115: A situation in which phenotypic abnormalities become evident with age.
has db xref: UMLS:C1835978
has exact synonym: Age dependent penetrance
has OBO namespace: human_phenotype
id: HP:0003831
type: Class
subclass of: Incomplete penetrance
notation: HP:0003831

Abnormality of the tibial plateaux
tree view: Abnormality of tibia morphology
has db xref: UMLS:C4025564
has OBO namespace: human_phenotype
id: HP:0003832
type: Class
subclass of: Abnormality of tibia morphology
notation: HP:0003832

Laterally deficient tibial plateaux
tree view: Abnormality of the tibial plateaux
has db xref: UMLS:C4025563
has OBO namespace: human_phenotype
id: HP:0003833
type: Class
subclass of: Abnormality of the tibial plateaux
notation: HP:0003833

Shoulder dislocation
tree view: Abnormality of the shoulder
tree view: HP_0030310
IAO_0000115: A displacement or misalignment of the humerus with respect to the other bones of the should joint. Note that a subluxation is a partial dislocation.
has db xref: MSH:D012783
has db xref: SNOMEDCT_US:125615005
has db xref: SNOMEDCT_US:417076003
has db xref: UMLS:C0037005
has exact synonym: Shoulder dislocation
has OBO namespace: human_phenotype
id: HP:0003834
type: Class
subclass of: Abnormality of the shoulder
subclass of: HP_0030310
notation: HP:0003834

Shoulder subluxation
tree view: HP_0032153
IAO_0000115: A partial dislocation of the shoulder joint.
has db xref: SNOMEDCT_US:263051004
has db xref: UMLS:C0434744
has exact synonym: Partial shoulder dislocation
has OBO namespace: human_phenotype
id: HP:0003835
type: Class
subclass of: HP_0032153
notation: HP:0003835

Stippled calcification of the shoulder
tree view: Abnormality of the shoulder
has db xref: UMLS:C4025562
has OBO namespace: human_phenotype
id: HP:0003836
type: Class
subclass of: Abnormality of the shoulder
notation: HP:0003836

Soft-tissue ossification around the shoulders
tree view: HP_0011986
IAO_0000115: Formation of calcified tissue in the soft tissues surrounding the shoulder.
has db xref: UMLS:C4025561
has OBO namespace: human_phenotype
has related synonym: Calcification of the soft-tissue around the shoulders
id: HP:0003837
type: Class
subclass of: HP_0011986
notation: HP:0003837

HP_0003838
IAO_0000231: IAO_0000227
IAO_0100001: Abnormality of the upper limb
type: Class
deprecated: true
notation: HP:0003838

Abnormality of upper limb epiphysis morphology
tree view: Abnormality of the upper limb
tree view: HP_0006505
has alternative id: HP:0003845
has db xref: UMLS:C4021722
has exact synonym: Abnormal shape of end part of upper limb long bones
has exact synonym: Abnormality involving the epiphyses of the upper limbs
has exact synonym: Epihyseal plate abnormality of the upper limbs
has OBO namespace: human_phenotype
id: HP:0003839
type: Class
subclass of: Abnormality of the upper limb
subclass of: HP_0006505
notation: HP:0003839

Delayed upper limb epiphyseal ossification
tree view: Delayed epiphyseal ossification
tree view: Abnormality of upper limb epiphysis morphology
IAO_0000115: A delay in the process of formation and maturation of the epiphysis of one or more long bones of the upper limbs.
has db xref: UMLS:C4025560
has db xref: UMLS:C4280544
has OBO namespace: human_phenotype
has related synonym: Delayed maturation fo the end part of the upper limb bone
id: HP:0003840
type: Class
subclass of: Delayed epiphyseal ossification
subclass of: Abnormality of upper limb epiphysis morphology
notation: HP:0003840

Fragmented epiphyses of the upper limbs
tree view: Abnormality of upper limb epiphysis morphology
tree view: HP_0100168
has db xref: UMLS:C4025559
has exact synonym: Fragmented end part of upper limb bones
has OBO namespace: human_phenotype
id: HP:0003841
type: Class
subclass of: Abnormality of upper limb epiphysis morphology
subclass of: HP_0100168
notation: HP:0003841

Irregular epiphyses of the upper limbs
tree view: Abnormality of upper limb epiphysis morphology
tree view: HP_0010582
has db xref: UMLS:C4025558
has exact synonym: Irregular end part of upper limb bones
has OBO namespace: human_phenotype
id: HP:0003842
type: Class
subclass of: Abnormality of upper limb epiphysis morphology
subclass of: HP_0010582
notation: HP:0003842

Round epiphyses of the upper limbs
tree view: Abnormality of upper limb epiphysis morphology
has db xref: UMLS:C4025557
has exact synonym: Round end part of upper limb bones
has OBO namespace: human_phenotype
id: HP:0003843
type: Class
subclass of: Abnormality of upper limb epiphysis morphology
notation: HP:0003843

Small epiphyses of the upper limbs
tree view: Abnormality of upper limb epiphysis morphology
tree view: HP_0010585
has db xref: UMLS:C4025556
has exact synonym: Small end part of upper limb bones
has OBO namespace: human_phenotype
id: HP:0003844
type: Class
subclass of: Abnormality of upper limb epiphysis morphology
subclass of: HP_0010585
notation: HP:0003844

HP_0003845
IAO_0000231: IAO_0000227
IAO_0100001: Abnormality of upper limb epiphysis morphology
type: Class
deprecated: true
notation: HP:0003845

Wide epiphyseal plates of the upper limbs
tree view: Abnormality of upper limb epiphysis morphology
has db xref: UMLS:C4020913
has exact synonym: Broad epiphyseal plates of the upper limbs
has exact synonym: Broad growth plates of upper limbs
has OBO namespace: human_phenotype
id: HP:0003846
type: Class
subclass of: Abnormality of upper limb epiphysis morphology
notation: HP:0003846

HP_0003847
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009809
type: Class
deprecated: true
notation: HP:0003847

Cupped metaphyses of the upper limbs
tree view: Metaphyseal cupping
tree view: HP_0009809
has db xref: UMLS:C4025555
has exact synonym: Cupped wide portion of the upper limb bone
has OBO namespace: human_phenotype
id: HP:0003848
type: Class
subclass of: Metaphyseal cupping
subclass of: HP_0009809
notation: HP:0003848

Flared upper limb metaphysis
tree view: Flared metaphysis
tree view: Upper limb metaphyseal widening
IAO_0000115: The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones of the arm.
has db xref: UMLS:C4021721
has exact synonym: Flared metaphyses of the upper limbs
has exact synonym: Flared wide portion of the upper limb bone
has OBO namespace: human_phenotype
id: HP:0003849
type: Class
subclass of: Flared metaphysis
subclass of: Upper limb metaphyseal widening
notation: HP:0003849

Upper-limb metaphyseal irregularity
tree view: Metaphyseal irregularity
tree view: HP_0009809
has db xref: UMLS:C4021720
has exact synonym: Irregular metaphyses of the upper limbs
has exact synonym: Irregular wide portion of upper limb bones
has OBO namespace: human_phenotype
id: HP:0003850
type: Class
subclass of: Metaphyseal irregularity
subclass of: HP_0009809
notation: HP:0003850

Lytic defects in metaphyses of the upper limbs
tree view: HP_0009809
has db xref: UMLS:C4025554
has OBO namespace: human_phenotype
id: HP:0003851
type: Class
subclass of: HP_0009809
notation: HP:0003851

Normal density transverse bands in metaphyses of the upper limbs
tree view: HP_0009809
has db xref: UMLS:C4025553
has OBO namespace: human_phenotype
id: HP:0003852
type: Class
subclass of: HP_0009809
notation: HP:0003852

Sclerosis with transverse striations in metaphyses of the upper limbs
tree view: Sclerosis of metaphyses of the upper limbs
has db xref: UMLS:C4025552
has OBO namespace: human_phenotype
id: HP:0003853
type: Class
subclass of: Sclerosis of metaphyses of the upper limbs
notation: HP:0003853

Sclerosis of metaphyses of the upper limbs
tree view: HP_0009809
has db xref: UMLS:C4025551
has exact synonym: Increased bone density in wide portion of the upper limb bones
has OBO namespace: human_phenotype
id: HP:0003854
type: Class
subclass of: HP_0009809
notation: HP:0003854

Spurred metaphyses of the upper limbs
tree view: HP_0005054
tree view: HP_0009809
has db xref: UMLS:C4025550
has exact synonym: Spurred wide portion of upper limb bone
has OBO namespace: human_phenotype
id: HP:0003855
type: Class
subclass of: HP_0005054
subclass of: HP_0009809
notation: HP:0003855

Upper limb metaphyseal widening
tree view: Metaphyseal widening
tree view: HP_0009809
IAO_0000115: Increased width (breadth) of metaphyses of the arms.
has db xref: UMLS:C4021719
has exact synonym: Broad wide portion of upper limb bone
has exact synonym: Wide/broad metaphyses of the upper limbs
has OBO namespace: human_phenotype
id: HP:0003856
type: Class
subclass of: Metaphyseal widening
subclass of: HP_0009809
notation: HP:0003856

HP_0003857
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009808
type: Class
deprecated: true
notation: HP:0003857

Cortical diaphyseal irregularity of the upper limbs
tree view: HP_0009808
has db xref: UMLS:C4025549
has OBO namespace: human_phenotype
id: HP:0003858
type: Class
subclass of: HP_0009808
notation: HP:0003858

Cortical diaphyseal thickening of the upper limbs
tree view: HP_0009808
has db xref: UMLS:C4025548
has OBO namespace: human_phenotype
id: HP:0003859
type: Class
subclass of: HP_0009808
notation: HP:0003859

Diaphyseal sclerosis of the upper limbs
tree view: Diaphyseal sclerosis
tree view: HP_0009808
IAO_0000115: An elevation in bone density in one or more diaphyses of the arms. Sclerosis is normally detected on a radiograph as an area of increased opacity.
has db xref: UMLS:C4025547
has exact synonym: Increased bone density in central part of long bone of upper limbs
has OBO namespace: human_phenotype
id: HP:0003860
type: Class
subclass of: Diaphyseal sclerosis
subclass of: HP_0009808
notation: HP:0003860

Broad diaphyses of the upper limbs
tree view: HP_0009808
has db xref: UMLS:C4021718
has exact synonym: Broad shaft of long bone of the upper limbs
has exact synonym: Wide diaphyses of the upper limbs
has exact synonym: Wide shaft of long bone of the upper limbs
has OBO namespace: human_phenotype
id: HP:0003861
type: Class
subclass of: HP_0009808
notation: HP:0003861

Absent humerus
tree view: HP_0006507
IAO_0000115: Missing humerus bone associated with congenital failure of development.
has db xref: UMLS:C2678399
has exact synonym: Absent long bone in upper arm
has exact synonym: Aplasia of the humerus
has exact synonym: Aplastic humerus
has OBO namespace: human_phenotype
id: HP:0003862
in subset: hposlim core
type: Class
subclass of: HP_0006507
notation: HP:0003862

Angulated humerus
tree view: HP_0031095
has db xref: UMLS:C4025546
has exact synonym: Angulated long bone in upper arm
has OBO namespace: human_phenotype
id: HP:0003863
type: Class
subclass of: HP_0031095
notation: HP:0003863

Bifid humerus
tree view: HP_0031095
IAO_0000115: Clefting affecting the humerus.
has db xref: UMLS:C4025545
has exact synonym: Notched long bone in upper arm
has OBO namespace: human_phenotype
id: HP:0003864
type: Class
subclass of: HP_0031095
notation: HP:0003864

Bowed humerus
tree view: HP_0006488
tree view: HP_0031095
IAO_0000115: A bending or abnormal curvature of the humerus.
has db xref: UMLS:C1859460
has exact synonym: Bowed long bone in upper arm
has exact synonym: Bowing of the humerus
has exact synonym: Humeral bowing
has OBO namespace: human_phenotype
id: HP:0003865
in subset: hposlim core
type: Class
subclass of: HP_0006488
subclass of: HP_0031095
notation: HP:0003865

Coarse humeral trabeculae
tree view: HP_0031095
has db xref: UMLS:C4025544
has OBO namespace: human_phenotype
id: HP:0003866
type: Class
subclass of: HP_0031095
notation: HP:0003866

Humeral cortical irregularity
tree view: HP_0005731
tree view: HP_0010629
has db xref: UMLS:C4025543
has OBO namespace: human_phenotype
id: HP:0003867
type: Class
subclass of: HP_0005731
subclass of: HP_0010629
notation: HP:0003867

Humeral cortical thickening
tree view: Thickened cortex of long bones
tree view: HP_0010629
has db xref: UMLS:C4025542
has OBO namespace: human_phenotype
id: HP:0003868
type: Class
subclass of: Thickened cortex of long bones
subclass of: HP_0010629
notation: HP:0003868

Humeral cortical thinning
tree view: Thin bony cortex
tree view: HP_0010629
has db xref: UMLS:C4025541
has OBO namespace: human_phenotype
id: HP:0003869
type: Class
subclass of: Thin bony cortex
subclass of: HP_0010629
notation: HP:0003869

Crumpled humerus
tree view: HP_0031095
has alternative id: HP:0003873
has db xref: UMLS:C4025540
has exact synonym: Crumpled long bone in upper arm
has OBO namespace: human_phenotype
id: HP:0003870
type: Class
subclass of: HP_0031095
notation: HP:0003870

Deformed humerus
tree view: HP_0031095
has db xref: UMLS:C4025539
has exact synonym: Deformed long bone in upper arm
has OBO namespace: human_phenotype
id: HP:0003871
type: Class
subclass of: HP_0031095
notation: HP:0003871

Humeral exostoses
tree view: Multiple exostoses
tree view: HP_0031095
IAO_0000115: Presence of more than one exostosis originating in one or noth humerus bones. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage.
has db xref: UMLS:C4025538
has OBO namespace: human_phenotype
id: HP:0003872
type: Class
subclass of: Multiple exostoses
subclass of: HP_0031095
notation: HP:0003872

HP_0003873
IAO_0000231: IAO_0000227
IAO_0100001: Crumpled humerus
type: Class
deprecated: true
notation: HP:0003873

Humerus varus
tree view: HP_0031095
has db xref: UMLS:C4025537
has OBO namespace: human_phenotype
id: HP:0003874
in subset: hposlim core
type: Class
subclass of: HP_0031095
notation: HP:0003874

Humeral lytic defects
tree view: HP_0031095
IAO_0000115: Destruction of an area of humerus bone due to a disease process, such as cancer.
has db xref: UMLS:C4025536
has exact synonym: Lytic defects of the humerus
has OBO namespace: human_phenotype
id: HP:0003875
type: Class
comment: Osteolytic defects can be observed by radiology studies such as an X-ray; however, the type of condition that is causing the lesion cannot be fully determined by the X-ray alone.
subclass of: HP_0031095
notation: HP:0003875

Osteoporotic humerus
tree view: Abnormality of the humerus
has db xref: UMLS:C4025535
has OBO namespace: human_phenotype
id: HP:0003876
type: Class
subclass of: Abnormality of the humerus
notation: HP:0003876

Oval transradiancy of humerus
tree view: HP_0031095
has db xref: UMLS:C4025534
has exact synonym: Humeral oval transradiancy
has OBO namespace: human_phenotype
id: HP:0003877
type: Class
subclass of: HP_0031095
notation: HP:0003877

Periosteal new bone of humerus
tree view: Abnormality of the humerus
tree view: HP_0030314
has db xref: UMLS:C4025533
has OBO namespace: human_phenotype
id: HP:0003878
type: Class
subclass of: Abnormality of the humerus
subclass of: HP_0030314
notation: HP:0003878

Humeral pseudarthrosis
tree view: HP_0031095
has db xref: UMLS:C4025532
has exact synonym: False joint (long bone in upper arm)
has OBO namespace: human_phenotype
id: HP:0003879
type: Class
subclass of: HP_0031095
notation: HP:0003879

Sclerotic foci of the humerus
tree view: Humeral sclerosis
has db xref: UMLS:C4021717
has exact synonym: Humeral sclerotic foci
has OBO namespace: human_phenotype
id: HP:0003880
type: Class
subclass of: Humeral sclerosis
notation: HP:0003880

Humeral sclerosis
tree view: Abnormality of the humerus
tree view: HP_0006392
has db xref: UMLS:C4021716
has exact synonym: Increased bone density in long bone of upper arm
has exact synonym: Sclerosis of humerus
has OBO namespace: human_phenotype
id: HP:0003881
type: Class
subclass of: Abnormality of the humerus
subclass of: HP_0006392
notation: HP:0003881

Slender humerus
tree view: Slender long bone
tree view: HP_0031095
IAO_0000115: Reduction in diameter of the humerus.
has db xref: UMLS:C4021851
has exact synonym: Slender long bone of upper arm
has OBO namespace: human_phenotype
id: HP:0003882
type: Class
subclass of: Slender long bone
subclass of: HP_0031095
notation: HP:0003882

Tapered humerus
tree view: HP_0031095
has db xref: UMLS:C4025531
has exact synonym: Tapered long bone of upper arm
has OBO namespace: human_phenotype
id: HP:0003883
type: Class
subclass of: HP_0031095
notation: HP:0003883

Triangular humerus
tree view: Abnormality of the humerus
has db xref: UMLS:C4025530
has exact synonym: Triangular long bone of upper arm
has OBO namespace: human_phenotype
id: HP:0003884
type: Class
subclass of: Abnormality of the humerus
notation: HP:0003884

Undermodeled humerus
tree view: HP_0031095
has db xref: UMLS:C4025529
has OBO namespace: human_phenotype
id: HP:0003885
type: Class
subclass of: HP_0031095
notation: HP:0003885

Wide humerus
tree view: HP_0005622
tree view: HP_0031095
has db xref: UMLS:C4021715
has exact synonym: Broad humerus
has exact synonym: Wide long bone of upper arm
has OBO namespace: human_phenotype
id: HP:0003886
type: Class
subclass of: HP_0005622
subclass of: HP_0031095
notation: HP:0003886

Abnormality of the humeral heads
tree view: HP_0031095
has db xref: UMLS:C4025528
has exact synonym: Abnormal head of long bone in upper arm
has OBO namespace: human_phenotype
id: HP:0003887
type: Class
subclass of: HP_0031095
notation: HP:0003887

Flattened humeral heads
tree view: Abnormality of the humeral heads
has db xref: UMLS:C3808869
has exact synonym: Flattended head of long bone in upper arm
has OBO namespace: human_phenotype
id: HP:0003888
type: Class
subclass of: Abnormality of the humeral heads
notation: HP:0003888

Abnormality of the deltoid tuberosities
tree view: Abnormality of the humeral diaphysis
has db xref: UMLS:C4025527
has OBO namespace: human_phenotype
id: HP:0003889
type: Class
subclass of: Abnormality of the humeral diaphysis
notation: HP:0003889

Prominent deltoid tuberosities
tree view: Abnormality of the deltoid tuberosities
has db xref: UMLS:C2674600
has OBO namespace: human_phenotype
id: HP:0003890
type: Class
subclass of: Abnormality of the deltoid tuberosities
notation: HP:0003890

Abnormality of the humeral epiphysis
tree view: Abnormality of the humerus
tree view: Abnormality of upper limb epiphysis morphology
IAO_0000115: An anomaly of the humeral epiphysis.
has db xref: UMLS:C4021714
has exact synonym: Abnormality of end part of the long bone of the upper arm
has exact synonym: Abnormality of the humeral epiphyses
has OBO namespace: human_phenotype
id: HP:0003891
type: Class
subclass of: Abnormality of the humerus
subclass of: Abnormality of upper limb epiphysis morphology
notation: HP:0003891

Absent humeral epiphyseal ossification
tree view: Abnormality of the humeral epiphysis
tree view: HP_0012791
IAO_0000115: Lack of formation of bone in the epiphysis of the humerus.
has db xref: UMLS:C4021713
has exact synonym: Absent maturation of end part of long bone in upper arm
has exact synonym: Absent ossification of the humeral epiphyses
has OBO namespace: human_phenotype
id: HP:0003892
type: Class
comment: Normally, the proximal humeral epiphysis can be visualized at about 40 weeks of gestation.
subclass of: Abnormality of the humeral epiphysis
subclass of: HP_0012791
notation: HP:0003892

Advanced ossification of the humeral epiphysis
tree view: Abnormality of the humeral epiphysis
tree view: HP_0010656
IAO_0000115: Ossification of the humeral epiphysis at an earlier age than normal.
has db xref: UMLS:C4020836
has db xref: UMLS:C4025526
has exact synonym: Accelerated maturation of end part of long bone in upper arm
has OBO namespace: human_phenotype
has related synonym: Advanced maturation of the humeral epiphyses
id: HP:0003893
type: Class
subclass of: Abnormality of the humeral epiphysis
subclass of: HP_0010656
notation: HP:0003893

Delayed humeral epiphyseal ossification
tree view: Delayed upper limb epiphyseal ossification
tree view: Abnormality of the humeral epiphysis
IAO_0000115: A delay in the process of formation and maturation of the humeral epiphysis.
has db xref: UMLS:C4021712
has db xref: UMLS:C4280543
has exact synonym: Delayed maturation/delayed ossification of the humeral epiphyses
has OBO namespace: human_phenotype
has related synonym: Delayed maturation of the end part of the long bone in upper arm
id: HP:0003894
type: Class
subclass of: Delayed upper limb epiphyseal ossification
subclass of: Abnormality of the humeral epiphysis
notation: HP:0003894

Flattened humeral epiphyses
tree view: Flattened epiphysis
tree view: Abnormality of the humeral epiphysis
has db xref: UMLS:C4025525
has exact synonym: Flattened end part of long bone in upper arm
has OBO namespace: human_phenotype
id: HP:0003895
type: Class
subclass of: Flattened epiphysis
subclass of: Abnormality of the humeral epiphysis
notation: HP:0003895

Irregular humeral epiphyses
tree view: Irregular epiphyses of the upper limbs
tree view: Abnormality of the humeral epiphysis
has db xref: UMLS:C4025524
has exact synonym: Irregular end part of long bone in upper arm
has OBO namespace: human_phenotype
id: HP:0003896
type: Class
subclass of: Irregular epiphyses of the upper limbs
subclass of: Abnormality of the humeral epiphysis
notation: HP:0003896

Irregular ossification of the humeral epiphyses
tree view: Abnormality of the humeral epiphysis
tree view: HP_0010656
tree view: HP_0012791
has db xref: UMLS:C4025523
has db xref: UMLS:C4280542
has OBO namespace: human_phenotype
has related synonym: Irregular maturation of the end part of the long bone in upper arm
id: HP:0003897
type: Class
subclass of: Abnormality of the humeral epiphysis
subclass of: HP_0010656
subclass of: HP_0012791
notation: HP:0003897

Large humeral epiphyses
tree view: Abnormality of the humeral epiphysis
tree view: HP_0010580
has db xref: UMLS:C4025522
has exact synonym: Large end part of long bone in upper arm
has OBO namespace: human_phenotype
id: HP:0003898
type: Class
subclass of: Abnormality of the humeral epiphysis
subclass of: HP_0010580
notation: HP:0003898

Round humeral epiphyses
tree view: Round epiphyses of the upper limbs
tree view: Abnormality of the humeral epiphysis
has db xref: UMLS:C4025521
has exact synonym: Round end part of long bone in upper arm
has OBO namespace: human_phenotype
id: HP:0003899
type: Class
subclass of: Round epiphyses of the upper limbs
subclass of: Abnormality of the humeral epiphysis
notation: HP:0003899

Small humeral epiphyses
tree view: Small epiphyses of the upper limbs
tree view: Abnormality of the humeral epiphysis
has db xref: UMLS:C4025520
has exact synonym: Small end part of long bone in upper arm
has OBO namespace: human_phenotype
id: HP:0003900
type: Class
subclass of: Small epiphyses of the upper limbs
subclass of: Abnormality of the humeral epiphysis
notation: HP:0003900

Stippled calcification of the humeral epiphyses
tree view: Abnormality of the humeral epiphysis
has db xref: UMLS:C4025519
has OBO namespace: human_phenotype
id: HP:0003901
type: Class
subclass of: Abnormality of the humeral epiphysis
notation: HP:0003901

Epiphyseal stippling of the humerus
tree view: Irregular ossification of the humeral epiphyses
tree view: HP_0010655
IAO_0000115: The presence of abnormal punctate (speckled, dot-like) calcifications in the humeral epiphysis.
has db xref: UMLS:C4021711
has exact synonym: Stippled ossification of the humeral epiphyses
has OBO namespace: human_phenotype
id: HP:0003902
type: Class
subclass of: Irregular ossification of the humeral epiphyses
subclass of: HP_0010655
notation: HP:0003902

Broad humeral epiphyses
tree view: Abnormality of the humeral epiphysis
tree view: Wide epiphyses of the upper limbs
IAO_0000115: Increased width of the humeral epiphysis.
has db xref: UMLS:C4021710
has exact synonym: Wide end part of long bone in upper arm
has exact synonym: Wide humeral epiphyses
has OBO namespace: human_phenotype
id: HP:0003903
type: Class
subclass of: Abnormality of the humeral epiphysis
subclass of: Wide epiphyses of the upper limbs
notation: HP:0003903

Wide epiphyses of the upper limbs
tree view: Abnormality of upper limb epiphysis morphology
tree view: HP_0010580
has db xref: UMLS:C4021709
has exact synonym: Broad epiphyses of the upper limbs
has exact synonym: Wide end part of upper limb bones
has OBO namespace: human_phenotype
id: HP:0003904
type: Class
subclass of: Abnormality of upper limb epiphysis morphology
subclass of: HP_0010580
notation: HP:0003904

Abnormality of the humeral epiphyseal plate
tree view: Abnormality of the humeral epiphysis
has broad synonym: Abnormality of arm long bone growth plate
has db xref: UMLS:C4025518
has db xref: UMLS:C4280541
has OBO namespace: human_phenotype
id: HP:0003905
type: Class
subclass of: Abnormality of the humeral epiphysis
notation: HP:0003905

Broad humeral epiphyseal plate
tree view: Wide epiphyseal plates of the upper limbs
tree view: Abnormality of the humeral epiphyseal plate
IAO_0000115: Increased width of the humeral epiphyseal growth plate.
has broad synonym: Wide long bone of arm growth plate
has db xref: UMLS:C4021708
has db xref: UMLS:C4280540
has exact synonym: Wide humeral epiphyseal plate
has OBO namespace: human_phenotype
id: HP:0003906
type: Class
subclass of: Wide epiphyseal plates of the upper limbs
subclass of: Abnormality of the humeral epiphyseal plate
notation: HP:0003906

Abnormality of the humeral metaphyses
tree view: Abnormality of the humerus
tree view: HP_0009809
has db xref: UMLS:C4025517
has exact synonym: Abnormality of the wide portion of the long bone in upper arm
has OBO namespace: human_phenotype
id: HP:0003907
type: Class
subclass of: Abnormality of the humerus
subclass of: HP_0009809
notation: HP:0003907

Corner fracture of metaphysis
tree view: Abnormality of the metaphysis
IAO_0000115: Fracture or fragmentation at the lateral portion of the metaphysis of a long bone. The radiographic appearance is that of a small corner of metaphysis separated from the metaphyseal edge by thin linear radiolucency. This feature can be observed in child abuse but fragmented appearance of the metaphysis or facture-like lesions can also be detected in the setting of certain skeletal dysplasias.
has db xref: UMLS:C4025516
has exact synonym: Bucket handle fracture
has exact synonym: Metaphyseal corner fracture
has OBO namespace: human_phenotype
id: HP:0003908
type: Class
comment: A corner fracture is a subepiphyseal planer fracture through immature metaphyseal bone. The appearance of a corner, avulsion or bucket handle depends on the extent of bone failure and radiographic projection. Bone can fail in this pattern from both shearing and tensile stresses. The weakest area of bone for a given loading condition determines the injury threshold for that structure.
subclass of: Abnormality of the metaphysis
notation: HP:0003908

Cortical subperiosteal resorption of humeral metaphyses
tree view: Abnormality of the humeral metaphyses
has db xref: UMLS:C4025515
has OBO namespace: human_phenotype
id: HP:0003909
type: Class
subclass of: Abnormality of the humeral metaphyses
notation: HP:0003909

Enlarged humeral metaphyses
tree view: Enlarged metaphyses
tree view: Abnormality of the humeral metaphyses
has db xref: UMLS:C4021707
has exact synonym: Enlarged wide portion of long bone of upper arm
has exact synonym: Expanded humeral metaphyses
has OBO namespace: human_phenotype
id: HP:0003910
type: Class
subclass of: Enlarged metaphyses
subclass of: Abnormality of the humeral metaphyses
notation: HP:0003910

Flared humeral metaphysis
tree view: Flared upper limb metaphysis
tree view: Abnormality of the humeral metaphyses
IAO_0000115: Flaring (increase of width with a splayed appearance) of the humeral metaphysis.
has alternative id: HP:0003925
has db xref: UMLS:C4020835
has db xref: UMLS:C4020912
has exact synonym: Flared wide portion of long bone of upper arm
has exact synonym: Wide/broad humeral metaphysis
has OBO namespace: human_phenotype
has related synonym: Flared humerus
id: HP:0003911
type: Class
subclass of: Flared upper limb metaphysis
subclass of: Abnormality of the humeral metaphyses
notation: HP:0003911

Frayed humeral metaphyses
tree view: Abnormality of the humeral metaphyses
has db xref: UMLS:C4025514
has OBO namespace: human_phenotype
id: HP:0003912
type: Class
subclass of: Abnormality of the humeral metaphyses
notation: HP:0003912

Humeral metaphyseal irregularity
tree view: Upper-limb metaphyseal irregularity
tree view: Abnormality of the humeral metaphyses
has db xref: UMLS:C4021706
has exact synonym: Irregular humeral metaphyses
has exact synonym: Irregular wide portion of long bone in upper arm
has OBO namespace: human_phenotype
id: HP:0003913
type: Class
subclass of: Upper-limb metaphyseal irregularity
subclass of: Abnormality of the humeral metaphyses
notation: HP:0003913

Irregular ossification of humeral metaphyses
tree view: Abnormality of the humeral metaphyses
tree view: HP_0012791
has db xref: UMLS:C4025513
has exact synonym: Irregular bone maturation of the wide portion of the long bone in upper arm
has OBO namespace: human_phenotype
id: HP:0003914
type: Class
subclass of: Abnormality of the humeral metaphyses
subclass of: HP_0012791
notation: HP:0003914

Lytic defects of the humeral metaphysis
tree view: Lytic defects in metaphyses of the upper limbs
tree view: Abnormality of the humeral metaphyses
has db xref: UMLS:C4025512
has OBO namespace: human_phenotype
id: HP:0003915
type: Class
subclass of: Lytic defects in metaphyses of the upper limbs
subclass of: Abnormality of the humeral metaphyses
notation: HP:0003915

Normal-density transverse humeral bands
tree view: Normal density transverse bands in metaphyses of the upper limbs
tree view: Abnormality of the humeral metaphyses
has db xref: UMLS:C4025511
has OBO namespace: human_phenotype
id: HP:0003916
type: Class
comment: Normal-density transverse bands of the humerus
subclass of: Normal density transverse bands in metaphyses of the upper limbs
subclass of: Abnormality of the humeral metaphyses
notation: HP:0003916

Pointed humeral metaphysis
tree view: Abnormality of the humeral metaphyses
has db xref: UMLS:C4025510
has exact synonym: Pointed wide portion of long bone of upper arm
has OBO namespace: human_phenotype
id: HP:0003917
type: Class
subclass of: Abnormality of the humeral metaphyses
notation: HP:0003917

Sclerotic humeral metaphysis
tree view: Abnormality of the humeral metaphyses
has db xref: UMLS:C4025509
has exact synonym: Hardening of wide portion of long bone of upper arm
has exact synonym: Stiffening of wide portion of long bone of upper arm
has OBO namespace: human_phenotype
id: HP:0003918
type: Class
subclass of: Abnormality of the humeral metaphyses
notation: HP:0003918

Sclerotic humeral metaphysis with longitudinal striations
tree view: Sclerotic humeral metaphysis
has db xref: UMLS:C4025508
has OBO namespace: human_phenotype
id: HP:0003919
type: Class
subclass of: Sclerotic humeral metaphysis
notation: HP:0003919

Sloping humeral metaphysis
tree view: Abnormality of the humeral metaphyses
has db xref: UMLS:C4025507
has exact synonym: Sloping metaphysis of long bone of upper arm
has OBO namespace: human_phenotype
id: HP:0003920
type: Class
subclass of: Abnormality of the humeral metaphyses
notation: HP:0003920

Laterally sloping humeral metaphysis
tree view: Sloping humeral metaphysis
has db xref: UMLS:C4025506
has exact synonym: Laterally sloping metaphysis of long bone of upper arm
has OBO namespace: human_phenotype
id: HP:0003921
type: Class
subclass of: Sloping humeral metaphysis
notation: HP:0003921

Spurred humeral metaphysis
tree view: Abnormality of the humeral metaphyses
has db xref: UMLS:C4025505
has exact synonym: Spurred metaphysis of long bone of upper arm
has OBO namespace: human_phenotype
id: HP:0003922
type: Class
subclass of: Abnormality of the humeral metaphyses
notation: HP:0003922

Square humeral metaphysis
tree view: Abnormality of the humeral metaphyses
has db xref: UMLS:C4025504
has exact synonym: Square metaphysis of long bone of upper arm
has OBO namespace: human_phenotype
id: HP:0003923
type: Class
subclass of: Abnormality of the humeral metaphyses
notation: HP:0003923

Stippled calcification of humeral metaphysis
tree view: Abnormality of the humeral metaphyses
has db xref: UMLS:C4025503
has exact synonym: Speckled calcification in metaphysis of long bone of upper arm
has OBO namespace: human_phenotype
id: HP:0003924
type: Class
subclass of: Abnormality of the humeral metaphyses
notation: HP:0003924

HP_0003925
IAO_0000231: IAO_0000227
IAO_0100001: Flared humeral metaphysis
type: Class
deprecated: true
notation: HP:0003925

Abnormality of the humeral diaphysis
tree view: HP_0009808
tree view: HP_0031095
IAO_0000115: An anomaly of the humeral diaphysis.
has db xref: UMLS:C4025502
has exact synonym: Abnormality of shaft of long bone in upper arm
has OBO namespace: human_phenotype
id: HP:0003926
type: Class
subclass of: HP_0009808
subclass of: HP_0031095
notation: HP:0003926

Cortical irregularity of humeral diaphysis
tree view: Cortical diaphyseal irregularity of the upper limbs
tree view: Humeral cortical irregularity
tree view: Abnormality of the humeral diaphysis
IAO_0000115: An abnormal irregularity of the cortical surface of the diaphysis (shaft) of the humerus.
has db xref: UMLS:C4025501
has OBO namespace: human_phenotype
id: HP:0003927
type: Class
subclass of: Cortical diaphyseal irregularity of the upper limbs
subclass of: Humeral cortical irregularity
subclass of: Abnormality of the humeral diaphysis
notation: HP:0003927

Cortical thickening of humeral diaphysis
tree view: Cortical diaphyseal thickening of the upper limbs
tree view: Abnormality of the humeral diaphysis
has db xref: UMLS:C4025500
has OBO namespace: human_phenotype
id: HP:0003928
type: Class
subclass of: Cortical diaphyseal thickening of the upper limbs
subclass of: Abnormality of the humeral diaphysis
notation: HP:0003928

Ground glass opacity of humeral diaphysis
tree view: Abnormality of the humeral diaphysis
has db xref: UMLS:C4025499
has OBO namespace: human_phenotype
id: HP:0003929
type: Class
subclass of: Abnormality of the humeral diaphysis
notation: HP:0003929

Lytic defects of humeral diaphysis
tree view: Abnormality of the humeral diaphysis
has db xref: UMLS:C4021705
has exact synonym: Humeral diaphyseal lysis
has OBO namespace: human_phenotype
id: HP:0003930
type: Class
subclass of: Abnormality of the humeral diaphysis
notation: HP:0003930

Periosteal new bone of humeral diaphysis
tree view: Abnormality of the humeral diaphysis
tree view: HP_0030314
has db xref: UMLS:C4025498
has OBO namespace: human_phenotype
id: HP:0003931
type: Class
subclass of: Abnormality of the humeral diaphysis
subclass of: HP_0030314
notation: HP:0003931

Sclerotic foci of humeral diaphysis
tree view: Abnormality of the humeral diaphysis
has db xref: UMLS:C4025497
has OBO namespace: human_phenotype
id: HP:0003932
type: Class
subclass of: Abnormality of the humeral diaphysis
notation: HP:0003932

Sclerosis of humeral diaphysis
tree view: Diaphyseal sclerosis of the upper limbs
tree view: Abnormality of the humeral diaphysis
has db xref: UMLS:C4025496
has exact synonym: Increased bone density in shaft of long bone in upper arm
has OBO namespace: human_phenotype
id: HP:0003933
type: Class
subclass of: Diaphyseal sclerosis of the upper limbs
subclass of: Abnormality of the humeral diaphysis
notation: HP:0003933

Slender humeral diaphysis
tree view: Abnormality of the humeral diaphysis
has db xref: UMLS:C4025495
has exact synonym: Slender shaft of long bone in upper arm
has OBO namespace: human_phenotype
id: HP:0003934
type: Class
subclass of: Abnormality of the humeral diaphysis
notation: HP:0003934

Wide humeral diaphysis
tree view: Broad diaphyses of the upper limbs
tree view: Abnormality of the humeral diaphysis
IAO_0000115: Increased width of the humeral diaphysis.
has db xref: UMLS:C4021704
has exact synonym: Broad humeral diaphysis
has exact synonym: Broad shaft of long bone in upper arm
has exact synonym: Wide shaft of long bone in upper arm
has OBO namespace: human_phenotype
id: HP:0003935
type: Class
subclass of: Broad diaphyses of the upper limbs
subclass of: Abnormality of the humeral diaphysis
notation: HP:0003935

HP_0003936
IAO_0000231: IAO_0000227
IAO_0100001: Humeroradial synostosis
type: Class
deprecated: true
notation: HP:0003936

HP_0003937
IAO_0000231: IAO_0000227
IAO_0100001: Elbow flexion contracture
type: Class
deprecated: true
notation: HP:0003937

Synostosis involving the elbow
tree view: HP_0009811
tree view: HP_0100238
has db xref: UMLS:C4025494
has exact synonym: Bone fusion involving the elbow
has OBO namespace: human_phenotype
id: HP:0003938
type: Class
subclass of: HP_0009811
subclass of: HP_0100238
notation: HP:0003938

Humeroulnar synostosis
tree view: Synostosis involving the elbow
tree view: HP_0100745
IAO_0000115: An abnormal osseous union (fusion) between the ulna and the humerus.
has db xref: SNOMEDCT_US:205330003
has db xref: UMLS:C0431799
has exact synonym: Humeral ulnar synostosis
has OBO namespace: human_phenotype
id: HP:0003939
type: Class
subclass of: Synostosis involving the elbow
subclass of: HP_0100745
notation: HP:0003939

Osteoarthritis of the elbow
tree view: Osteoarthritis
tree view: HP_0009811
has db xref: SNOMEDCT_US:239866002
has db xref: UMLS:C0409954
has OBO namespace: human_phenotype
id: HP:0003940
type: Class
subclass of: Osteoarthritis
subclass of: HP_0009811
notation: HP:0003940

Stippled calcification of the elbow
tree view: HP_0009811
has db xref: UMLS:C4025493
has OBO namespace: human_phenotype
id: HP:0003941
type: Class
subclass of: HP_0009811
notation: HP:0003941

Synovial chondromatosis of the elbow
tree view: HP_0009811
has db xref: UMLS:C4025492
has OBO namespace: human_phenotype
id: HP:0003942
type: Class
subclass of: HP_0009811
notation: HP:0003942

Abnormality of the joint spaces of the elbow
tree view: HP_0009811
has db xref: UMLS:C4025491
has exact synonym: Abnormality of the joint spaces of the elbow
has OBO namespace: human_phenotype
id: HP:0003943
type: Class
subclass of: HP_0009811
notation: HP:0003943

Narrow joint spaces of the elbow
tree view: Abnormality of the joint spaces of the elbow
has db xref: UMLS:C4025490
has exact synonym: Narrow joint spaces of the elbow
has OBO namespace: human_phenotype
id: HP:0003944
type: Class
subclass of: Abnormality of the joint spaces of the elbow
notation: HP:0003944

Irregular articular surfaces of the elbow joints
tree view: HP_0009811
has db xref: UMLS:C4025489
has OBO namespace: human_phenotype
id: HP:0003945
type: Class
subclass of: HP_0009811
notation: HP:0003945

Abnormality of the epiphyses of the elbow
tree view: Abnormality of upper limb epiphysis morphology
tree view: HP_0009811
has db xref: UMLS:C4025488
has exact synonym: Abnormality of end part of the elbow bone
has OBO namespace: human_phenotype
id: HP:0003946
type: Class
subclass of: Abnormality of upper limb epiphysis morphology
subclass of: HP_0009811
notation: HP:0003946

Delayed elbow epiphyseal ossification
tree view: Delayed upper limb epiphyseal ossification
tree view: Abnormality of the epiphyses of the elbow
IAO_0000115: A delay in the process of formation and maturation of the epiphysis of one or more long bones that are part of the elbow.
has db xref: UMLS:C4025487
has exact synonym: Delayed maturation of the end part of the elbow bone
has OBO namespace: human_phenotype
id: HP:0003947
type: Class
subclass of: Delayed upper limb epiphyseal ossification
subclass of: Abnormality of the epiphyses of the elbow
notation: HP:0003947

Irregular epiphyses of the elbow
tree view: Irregular epiphyses of the upper limbs
tree view: Abnormality of the epiphyses of the elbow
has db xref: UMLS:C4025486
has exact synonym: Irregular end part of the elbow bone
has OBO namespace: human_phenotype
id: HP:0003948
type: Class
subclass of: Irregular epiphyses of the upper limbs
subclass of: Abnormality of the epiphyses of the elbow
notation: HP:0003948

Abnormality of the elbow metaphyses
tree view: HP_0009809
tree view: HP_0009811
has db xref: UMLS:C4025485
has exact synonym: Abnormal wide portion of elbow bone
has OBO namespace: human_phenotype
id: HP:0003949
type: Class
subclass of: HP_0009809
subclass of: HP_0009811
notation: HP:0003949

Flared elbow metaphyses
tree view: Flared upper limb metaphysis
tree view: Abnormality of the elbow metaphyses
has db xref: UMLS:C4025484
has exact synonym: Flared wide portion of elbow bone
has OBO namespace: human_phenotype
id: HP:0003950
type: Class
subclass of: Flared upper limb metaphysis
subclass of: Abnormality of the elbow metaphyses
notation: HP:0003950

Distal humeral metaphyseal irregularity
tree view: Humeral metaphyseal irregularity
tree view: Abnormality of the elbow metaphyses
IAO_0000115: Irregularity of the normally smooth surface of the metaphysis at the distal end of the humerus (at the elbow).
has db xref: UMLS:C4021703
has exact synonym: Irregular metaphyses of elbow
has exact synonym: Irregular wide portion of elbow bone
has OBO namespace: human_phenotype
id: HP:0003951
type: Class
subclass of: Humeral metaphyseal irregularity
subclass of: Abnormality of the elbow metaphyses
notation: HP:0003951

Sclerotic foci of metaphyses of the elbow
tree view: Sclerosis of metaphyses of the upper limbs
tree view: Abnormality of the elbow metaphyses
has db xref: UMLS:C4021702
has exact synonym: Vertical linear mixed lucent and sclerotic pattern of metaphyses
has OBO namespace: human_phenotype
id: HP:0003952
type: Class
subclass of: Sclerosis of metaphyses of the upper limbs
subclass of: Abnormality of the elbow metaphyses
notation: HP:0003952

Absent forearm bone
tree view: HP_0006503
IAO_0000115: Absence of one or more forearm bones associated with congenital failure of development.
has db xref: UMLS:C4021701
has exact synonym: Absent forearm bone
has exact synonym: Aplasia of the forearm bones
has OBO namespace: human_phenotype
id: HP:0003953
type: Class
subclass of: HP_0006503
notation: HP:0003953

Angulated forearm bones
tree view: HP_0040073
has db xref: UMLS:C4025483
has exact synonym: Angulated forearm bones
has OBO namespace: human_phenotype
id: HP:0003954
type: Class
subclass of: HP_0040073
notation: HP:0003954

Bone-in-a-bone appearance of forearm
tree view: Abnormality of the forearm
IAO_0000115: A descriptive term for a forearm bone that appears to have an additional bone within it on radiography.
has db xref: UMLS:C4025482
has exact synonym: Bone-in-a-bone appearance of forearm
has OBO namespace: human_phenotype
id: HP:0003955
type: Class
subclass of: Abnormality of the forearm
notation: HP:0003955

Bowed forearm bones
tree view: HP_0006488
tree view: HP_0040073
IAO_0000115: A bending or abnormal curvature affecting either the radius, the ulna, or both.
has db xref: UMLS:C4025481
has exact synonym: Bowed forearm bones
has OBO namespace: human_phenotype
id: HP:0003956
type: Class
subclass of: HP_0006488
subclass of: HP_0040073
notation: HP:0003956

Cortical thickening of the forearm bones
tree view: HP_0040065
tree view: HP_0040072
has db xref: UMLS:C4021842
has OBO namespace: human_phenotype
id: HP:0003957
type: Class
subclass of: HP_0040065
subclass of: HP_0040072
notation: HP:0003957

Cross-fusion of the forearm bones
tree view: HP_0040072
has db xref: UMLS:C4025480
has OBO namespace: human_phenotype
id: HP:0003958
type: Class
subclass of: HP_0040072
notation: HP:0003958

Deformed forearm bones
tree view: HP_0040073
has db xref: UMLS:C4025479
has exact synonym: Deformed forearm bones
has OBO namespace: human_phenotype
id: HP:0003959
type: Class
subclass of: HP_0040073
notation: HP:0003959

Exostoses of the forearm bones
tree view: HP_0040072
tree view: HP_0100777
has db xref: UMLS:C4025478
has OBO namespace: human_phenotype
id: HP:0003960
type: Class
subclass of: HP_0040072
subclass of: HP_0100777
notation: HP:0003960

Fractured forearm bones
tree view: Abnormal bone structure
tree view: HP_0040073
has db xref: UMLS:C4025477
has exact synonym: Fractured forearm bones
has OBO namespace: human_phenotype
id: HP:0003961
type: Class
subclass of: Abnormal bone structure
subclass of: HP_0040073
notation: HP:0003961

HP_0003962
IAO_0000231: IAO_0000227
IAO_0100001: Radioulnar synostosis
type: Class
deprecated: true
notation: HP:0003962

Lytic defects of the forearm bones
tree view: HP_0040072
has db xref: UMLS:C4025476
has OBO namespace: human_phenotype
id: HP:0003963
type: Class
subclass of: HP_0040072
notation: HP:0003963

Osteoporotic forearm bones
tree view: HP_0040072
has db xref: UMLS:C4025475
has OBO namespace: human_phenotype
id: HP:0003964
type: Class
subclass of: HP_0040072
notation: HP:0003964

Pseudarthrosis of the forearm bones
tree view: HP_0040072
has db xref: UMLS:C4025474
has OBO namespace: human_phenotype
id: HP:0003965
type: Class
subclass of: HP_0040072
notation: HP:0003965

Sclerotic foci in forearm bones
tree view: HP_0040072
has db xref: UMLS:C4025473
has OBO namespace: human_phenotype
id: HP:0003966
type: Class
subclass of: HP_0040072
notation: HP:0003966

Sclerotic forearm bones
tree view: HP_0040072
has db xref: UMLS:C4025472
has exact synonym: Increased bone density of forearm bones
has OBO namespace: human_phenotype
id: HP:0003967
type: Class
subclass of: HP_0040072
notation: HP:0003967

HP_0003968
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009821
type: Class
deprecated: true
notation: HP:0003968

Slender forearm bones
tree view: HP_0040073
has db xref: UMLS:C4025471
has OBO namespace: human_phenotype
id: HP:0003969
type: Class
subclass of: HP_0040073
notation: HP:0003969

Undermodelled forearm bones
tree view: HP_0040072
has db xref: UMLS:C4025470
has OBO namespace: human_phenotype
id: HP:0003970
type: Class
subclass of: HP_0040072
notation: HP:0003970

Broad forearm bones
tree view: HP_0040073
IAO_0000115: Abnormally wide bone of the skeleton of forearm.
has db xref: UMLS:C4021700
has exact synonym: Broad forearm bones
has exact synonym: Wide forearm bones
has OBO namespace: human_phenotype
id: HP:0003971
type: Class
subclass of: HP_0040073
notation: HP:0003971

HP_0003972
IAO_0000231: IAO_0000227
IAO_0100001: HP_0006439
type: Class
deprecated: true
notation: HP:0003972

Wide radioulnar joints
tree view: Enlarged joints
tree view: Abnormality of the radioulnar joints
has db xref: UMLS:C4021699
has exact synonym: Broad radioulnar joints
has OBO namespace: human_phenotype
id: HP:0003973
type: Class
subclass of: Enlarged joints
subclass of: Abnormality of the radioulnar joints
notation: HP:0003973

Absent radius
tree view: Absent forearm bone
tree view: HP_0006501
tree view: HP_0009822
IAO_0000115: Missing radius bone associated with congenital failure of development.
has alternative id: HP:0002819
has alternative id: HP:0005012
has db xref: UMLS:C1405984
has db xref: UMLS:C1838608
has db xref: UMLS:C1849314
has exact synonym: Absent ossification/absence of radius
has exact synonym: Aplasia of the radius
has exact synonym: Missing outer large bone of forearm
has exact synonym: Radial aplasia
has exact synonym: absence of radius and ulna
has OBO namespace: human_phenotype
id: HP:0003974
in subset: hposlim core
type: Class
subclass of: Absent forearm bone
subclass of: HP_0006501
subclass of: HP_0009822
notation: HP:0003974

obsolete Chevron-shaped/cone-shaped radius
IAO_0000231: IAO_0000227
IAO_0100001: Cone-shaped distal radial epiphysis
IAO_0100001: HP:0004000
has OBO namespace: human_phenotype
id: HP:0003975
type: Class
deprecated: true
notation: HP:0003975

Constricted radius
tree view: Abnormal bone structure
tree view: HP_0045009
has db xref: UMLS:C4025468
has OBO namespace: human_phenotype
id: HP:0003976
type: Class
subclass of: Abnormal bone structure
subclass of: HP_0045009
notation: HP:0003976

Deformed radius
tree view: Deformed forearm bones
tree view: HP_0045009
has alternative id: HP:0005046
has db xref: UMLS:C4025467
has OBO namespace: human_phenotype
id: HP:0003977
type: Class
subclass of: Deformed forearm bones
subclass of: HP_0045009
notation: HP:0003977

Fractured radius
tree view: Fractures of the long bones
tree view: Fractured forearm bones
tree view: HP_0045009
has db xref: MSH:D011885
has db xref: SNOMEDCT_US:12676007
has db xref: UMLS:C0034628
has OBO namespace: human_phenotype
id: HP:0003978
type: Class
subclass of: Fractures of the long bones
subclass of: Fractured forearm bones
subclass of: HP_0045009
notation: HP:0003978

Lytic defects of the radius
tree view: Abnormality of the radius
tree view: Lytic defects of the forearm bones
has db xref: UMLS:C4021841
has OBO namespace: human_phenotype
id: HP:0003979
type: Class
subclass of: Abnormality of the radius
subclass of: Lytic defects of the forearm bones
notation: HP:0003979

Pseudarthrosis of the radius
tree view: Abnormality of the radius
tree view: Pseudarthrosis of the forearm bones
has db xref: UMLS:C4025466
has OBO namespace: human_phenotype
id: HP:0003980
type: Class
subclass of: Abnormality of the radius
subclass of: Pseudarthrosis of the forearm bones
notation: HP:0003980

Broad radius
tree view: Broad forearm bones
tree view: HP_0005622
tree view: HP_0045009
IAO_0000115: Increased width of the radius.
has db xref: UMLS:C4021698
has exact synonym: Wide radius
has OBO namespace: human_phenotype
id: HP:0003981
type: Class
subclass of: Broad forearm bones
subclass of: HP_0005622
subclass of: HP_0045009
notation: HP:0003981

Aplasia of the ulna
tree view: Absent forearm bone
tree view: HP_0006495
tree view: HP_0009822
IAO_0000115: Missing ulna bone associated with congenital failure of development.
has db xref: UMLS:C2678397
has exact synonym: Absent ossification/absent ulna
has exact synonym: Absent ulna
has OBO namespace: human_phenotype
has related synonym: Absent ulnae
id: HP:0003982
in subset: hposlim core
type: Class
subclass of: Absent forearm bone
subclass of: HP_0006495
subclass of: HP_0009822
notation: HP:0003982

HP_0003983
IAO_0000231: IAO_0000227
IAO_0100001: Ulnar bowing
type: Class
deprecated: true
notation: HP:0003983

Posteriorly dislocated ulna
tree view: Abnormality of the ulna
has db xref: UMLS:C4025465
has OBO namespace: human_phenotype
id: HP:0003984
type: Class
subclass of: Abnormality of the ulna
notation: HP:0003984

Exostoses of the ulna
tree view: Abnormality of the ulna
tree view: Exostoses of the forearm bones
has db xref: UMLS:C4025464
has OBO namespace: human_phenotype
id: HP:0003985
type: Class
subclass of: Abnormality of the ulna
subclass of: Exostoses of the forearm bones
notation: HP:0003985

Exostoses of the radius
tree view: Abnormality of the radius
tree view: Exostoses of the forearm bones
has db xref: UMLS:C4025463
has OBO namespace: human_phenotype
id: HP:0003986
type: Class
subclass of: Abnormality of the radius
subclass of: Exostoses of the forearm bones
notation: HP:0003986

Fractured ulna
tree view: Abnormality of the ulna
tree view: Fractures of the long bones
tree view: Fractured forearm bones
has db xref: MSH:D014458
has db xref: SNOMEDCT_US:54556006
has db xref: UMLS:C0041601
has OBO namespace: human_phenotype
id: HP:0003987
type: Class
subclass of: Abnormality of the ulna
subclass of: Fractures of the long bones
subclass of: Fractured forearm bones
notation: HP:0003987

Long ulna
tree view: Abnormality of the ulna
IAO_0000115: Increased length of the ulna.
has alternative id: HP:0006435
has db xref: UMLS:C1848108
has exact synonym: Disproportionately long ulnae
has OBO namespace: human_phenotype
id: HP:0003988
in subset: hposlim core
type: Class
subclass of: Abnormality of the ulna
notation: HP:0003988

Notched ulna
tree view: Abnormality of the ulna
has db xref: UMLS:C4025462
has OBO namespace: human_phenotype
id: HP:0003989
type: Class
subclass of: Abnormality of the ulna
notation: HP:0003989

Pointed ulna
tree view: Abnormality of the ulna
has db xref: UMLS:C4025461
has OBO namespace: human_phenotype
id: HP:0003990
type: Class
subclass of: Abnormality of the ulna
notation: HP:0003990

Osteosclerosis of the ulna
tree view: Abnormality of the ulna
tree view: Sclerotic forearm bones
tree view: HP_0006392
IAO_0000115: Osteosclerosis (increased density related to increased bone mass) of the ulna.
has db xref: UMLS:C4021697
has exact synonym: Sclerotic ulna
has OBO namespace: human_phenotype
id: HP:0003991
type: Class
subclass of: Abnormality of the ulna
subclass of: Sclerotic forearm bones
subclass of: HP_0006392
notation: HP:0003991

Slender ulna
tree view: Abnormality of the ulna
tree view: Slender long bone
tree view: Slender forearm bones
IAO_0000115: Reduction in diameter of the ulna.
has db xref: UMLS:C1968814
has OBO namespace: human_phenotype
id: HP:0003992
type: Class
subclass of: Abnormality of the ulna
subclass of: Slender long bone
subclass of: Slender forearm bones
notation: HP:0003992

Broad ulna
tree view: Broad forearm bones
tree view: HP_0005622
tree view: HP_0040071
IAO_0000115: Increased width of the ulna.
has alternative id: HP:0200081
has db xref: UMLS:C4020692
has db xref: UMLS:C4025460
has OBO namespace: human_phenotype
has related synonym: Wide ulna
id: HP:0003993
type: Class
subclass of: Broad forearm bones
subclass of: HP_0005622
subclass of: HP_0040071
notation: HP:0003993

Dislocated wrist
tree view: Abnormality of the wrist
tree view: HP_0030310
IAO_0000115: An injury of the wrist with displacement of any of the eight carpal bones.
has alternative id: HP:0004992
has db xref: MEDDRA:10013184
has db xref: SNOMEDCT_US:125618007
has db xref: UMLS:C0159941
has exact synonym: Dislocated wrist
has exact synonym: Dislocations of the wrists
has OBO namespace: human_phenotype
id: HP:0003994
type: Class
subclass of: Abnormality of the wrist
subclass of: HP_0030310
notation: HP:0003994

Abnormality of the radial head
tree view: Abnormality of the radius
has db xref: UMLS:C4021696
has exact synonym: Deformity of radial heads
has OBO namespace: human_phenotype
id: HP:0003995
type: Class
subclass of: Abnormality of the radius
notation: HP:0003995

Flattened radial head
tree view: Abnormality of the radial head
has db xref: UMLS:C4025459
has OBO namespace: human_phenotype
id: HP:0003996
type: Class
subclass of: Abnormality of the radial head
notation: HP:0003996

Hypoplastic radial head
tree view: Abnormality of the radial head
has db xref: UMLS:C4021695
has exact synonym: Small radial head
has OBO namespace: human_phenotype
id: HP:0003997
type: Class
subclass of: Abnormality of the radial head
notation: HP:0003997

Constricted radial neck
tree view: Abnormality of radial epiphyses
has db xref: UMLS:C4025458
has OBO namespace: human_phenotype
id: HP:0003998
type: Class
subclass of: Abnormality of radial epiphyses
notation: HP:0003998

Abnormality of radial epiphyses
tree view: Abnormality of the radius
tree view: Abnormality of upper limb epiphysis morphology
has alternative id: HP:0004011
has db xref: UMLS:C4021694
has exact synonym: Abnormality of radial epiphyseal plates
has OBO namespace: human_phenotype
id: HP:0003999
type: Class
subclass of: Abnormality of the radius
subclass of: Abnormality of upper limb epiphysis morphology
notation: HP:0003999

Cone-shaped distal radial epiphysis
tree view: Abnormality of radial epiphyses
tree view: HP_0010579
IAO_0000115: The distal epiphysis (rounded portion of bone at the far end of the radius distal to the growth plate) has an abnormal cone-shaped appearance.
has alternative id: HP:0003975
has db xref: UMLS:C4025457
has exact synonym: Chevron-shaped distal radial epiphysis
has OBO namespace: human_phenotype
id: HP:0004000
type: Class
comment: The phrase chevron-shaped (having the shape of a V or an inverted V) is synonymous.
subclass of: Abnormality of radial epiphyses
subclass of: HP_0010579
notation: HP:0004000

Medially deficient radial epiphyses
tree view: Abnormality of radial epiphyses
has db xref: UMLS:C4025456
has OBO namespace: human_phenotype
id: HP:0004001
type: Class
subclass of: Abnormality of radial epiphyses
notation: HP:0004001

Flattened radial epiphyses
tree view: Flattened epiphysis
tree view: Abnormality of radial epiphyses
has db xref: UMLS:C4025455
has OBO namespace: human_phenotype
id: HP:0004002
type: Class
subclass of: Flattened epiphysis
subclass of: Abnormality of radial epiphyses
notation: HP:0004002

Medially flattened radial epiphyses
tree view: Flattened radial epiphyses
has db xref: UMLS:C4025454
has OBO namespace: human_phenotype
id: HP:0004003
type: Class
subclass of: Flattened radial epiphyses
notation: HP:0004003

Irregular radial epiphyses
tree view: Abnormality of radial epiphyses
tree view: HP_0010582
has db xref: UMLS:C4025453
has OBO namespace: human_phenotype
id: HP:0004004
type: Class
subclass of: Abnormality of radial epiphyses
subclass of: HP_0010582
notation: HP:0004004

Large radial epiphyses
tree view: Abnormality of radial epiphyses
tree view: HP_0010580
has db xref: UMLS:C4025452
has OBO namespace: human_phenotype
id: HP:0004005
type: Class
subclass of: Abnormality of radial epiphyses
subclass of: HP_0010580
notation: HP:0004005

Round radial epiphyses
tree view: Abnormality of radial epiphyses
has db xref: UMLS:C4025451
has OBO namespace: human_phenotype
id: HP:0004006
type: Class
subclass of: Abnormality of radial epiphyses
notation: HP:0004006

Sclerotic radial epiphyses
tree view: Abnormality of radial epiphyses
has db xref: UMLS:C4025450
has OBO namespace: human_phenotype
id: HP:0004007
type: Class
subclass of: Abnormality of radial epiphyses
notation: HP:0004007

Sloping radial epiphyses
tree view: Abnormality of radial epiphyses
has db xref: UMLS:C4025449
has OBO namespace: human_phenotype
id: HP:0004008
type: Class
subclass of: Abnormality of radial epiphyses
notation: HP:0004008

Medially sloping radial epiphyses
tree view: Sloping radial epiphyses
has db xref: UMLS:C4025448
has OBO namespace: human_phenotype
id: HP:0004009
type: Class
subclass of: Sloping radial epiphyses
notation: HP:0004009

Small radial epiphyses
tree view: Abnormality of radial epiphyses
tree view: HP_0010585
has db xref: UMLS:C4025447
has OBO namespace: human_phenotype
id: HP:0004010
type: Class
subclass of: Abnormality of radial epiphyses
subclass of: HP_0010585
notation: HP:0004010

HP_0004011
IAO_0000231: IAO_0000227
IAO_0100001: Abnormality of radial epiphyses
type: Class
deprecated: true
notation: HP:0004011

Premature fusion of the radial epiphyseal plates
tree view: Abnormality of radial epiphyses
IAO_0000115: A premature fusion of the epiphyseal plates of the radius. Epiphyseal plates are located at the distal and proximal ends of the long bones, in this case of the radius and premature fusion will have an effect on the growh of the radial bone, inhibiting or at least disturbing the normal growth and development of the bone.
has db xref: UMLS:C4025446
has OBO namespace: human_phenotype
id: HP:0004012
type: Class
comment: The epiphyseal plate (or epiphysial plate, physis, or growth plate) is a hyaline cartilage plate in the metaphysis at each end of a long bone. The plate is found in children and adolescents; in adults, who have stopped growing, the plate is replaced by an epiphyseal line. The growth plate has a very specific morphology in having a zonal arrangement. The growth plate includes a relatively inactive reserve zone at the epiphyseal end, moving distally into a proliferative and then hyper trophic zone and ending with a band of ossifying cartilage (the metaphysis).
subclass of: Abnormality of radial epiphyses
notation: HP:0004012

Medially fused radial epiphyseal plates
tree view: Premature fusion of the radial epiphyseal plates
has db xref: UMLS:C4025445
has OBO namespace: human_phenotype
id: HP:0004013
type: Class
subclass of: Premature fusion of the radial epiphyseal plates
notation: HP:0004013

Broad radial epiphyseal plate
tree view: Abnormality of radial epiphyses
IAO_0000115: Abnormal increase in width of the epiphyseal growth plate of the radius.
has db xref: UMLS:C4021693
has exact synonym: Wide radial epiphyseal plates
has OBO namespace: human_phenotype
id: HP:0004014
type: Class
subclass of: Abnormality of radial epiphyses
notation: HP:0004014

Abnormality of radial metaphyses
tree view: Abnormality of the radius
tree view: HP_0009809
has db xref: UMLS:C4025444
has OBO namespace: human_phenotype
id: HP:0004015
type: Class
subclass of: Abnormality of the radius
subclass of: HP_0009809
notation: HP:0004015

Cupped radial metaphyses
tree view: Cupped metaphyses of the upper limbs
tree view: Abnormality of radial metaphyses
has db xref: UMLS:C4025443
has OBO namespace: human_phenotype
id: HP:0004016
type: Class
subclass of: Cupped metaphyses of the upper limbs
subclass of: Abnormality of radial metaphyses
notation: HP:0004016

Exostoses of the radial metaphysis
tree view: Exostoses of the radius
tree view: Abnormality of radial metaphyses
has db xref: UMLS:C4025442
has OBO namespace: human_phenotype
id: HP:0004017
type: Class
subclass of: Exostoses of the radius
subclass of: Abnormality of radial metaphyses
notation: HP:0004017

Flared radial metaphysis
tree view: Flared upper limb metaphysis
tree view: Abnormality of radial metaphyses
IAO_0000115: The presence of a splayed (i.e.,flared) metaphyseal segment of the radius.
has db xref: UMLS:C4025441
has OBO namespace: human_phenotype
has related synonym: Broadening of the distal radius
id: HP:0004018
type: Class
subclass of: Flared upper limb metaphysis
subclass of: Abnormality of radial metaphyses
notation: HP:0004018

Radial metaphyseal irregularity
tree view: Upper-limb metaphyseal irregularity
tree view: Abnormality of radial metaphyses
IAO_0000115: Irregularity of the normally smooth surface of the metaphysis of the radius.
has db xref: UMLS:C4021692
has exact synonym: Irregular radial metaphysis
has OBO namespace: human_phenotype
id: HP:0004019
type: Class
subclass of: Upper-limb metaphyseal irregularity
subclass of: Abnormality of radial metaphyses
notation: HP:0004019

Irregular ossification of the radial metaphysis
tree view: Abnormal enchondral ossification
tree view: Abnormality of radial metaphyses
has db xref: UMLS:C4025440
has OBO namespace: human_phenotype
id: HP:0004020
type: Class
subclass of: Abnormal enchondral ossification
subclass of: Abnormality of radial metaphyses
notation: HP:0004020

Lytic defects of radial metaphysis
tree view: Lytic defects in metaphyses of the upper limbs
tree view: Abnormality of radial metaphyses
has db xref: UMLS:C4025439
has OBO namespace: human_phenotype
id: HP:0004021
type: Class
subclass of: Lytic defects in metaphyses of the upper limbs
subclass of: Abnormality of radial metaphyses
notation: HP:0004021

Sclerotic radial metaphysis with longitudinal striations
tree view: Sclerosis of metaphyses of the upper limbs
tree view: Abnormality of radial metaphyses
has db xref: UMLS:C4025438
has OBO namespace: human_phenotype
id: HP:0004022
type: Class
subclass of: Sclerosis of metaphyses of the upper limbs
subclass of: Abnormality of radial metaphyses
notation: HP:0004022

Sloping radial metaphysis
tree view: Abnormality of radial metaphyses
has db xref: UMLS:C4025437
has OBO namespace: human_phenotype
id: HP:0004023
type: Class
subclass of: Abnormality of radial metaphyses
notation: HP:0004023

Medially sloping radial metaphysis
tree view: Sloping radial metaphysis
has db xref: UMLS:C4025436
has OBO namespace: human_phenotype
id: HP:0004024
type: Class
subclass of: Sloping radial metaphysis
notation: HP:0004024

Spurred radial metaphysis
tree view: Abnormality of radial metaphyses
has db xref: UMLS:C4025435
has OBO namespace: human_phenotype
id: HP:0004025
type: Class
subclass of: Abnormality of radial metaphyses
notation: HP:0004025

Broad radial metaphysis
tree view: Upper limb metaphyseal widening
tree view: Broad radius
tree view: Abnormality of radial metaphyses
IAO_0000115: Increase in width (breadth) of the radial metaphysis.
has db xref: UMLS:C4021691
has exact synonym: Wide radial metaphysis
has OBO namespace: human_phenotype
id: HP:0004026
type: Class
subclass of: Upper limb metaphyseal widening
subclass of: Broad radius
subclass of: Abnormality of radial metaphyses
notation: HP:0004026

Abnormality of radial diaphysis
tree view: Abnormality of the radius
tree view: HP_0009808
IAO_0000115: An anomaly of the radial diaphysis.
has db xref: UMLS:C4025434
has OBO namespace: human_phenotype
id: HP:0004027
type: Class
subclass of: Abnormality of the radius
subclass of: HP_0009808
notation: HP:0004027

Spurs of radial diaphysis
tree view: Abnormality of radial diaphysis
has db xref: UMLS:C4025433
has OBO namespace: human_phenotype
id: HP:0004028
type: Class
subclass of: Abnormality of radial diaphysis
notation: HP:0004028

Lytic defects of radial diaphysis
tree view: Abnormality of radial diaphysis
has db xref: UMLS:C4025432
has OBO namespace: human_phenotype
id: HP:0004029
type: Class
subclass of: Abnormality of radial diaphysis
notation: HP:0004029

Patchy sclerosis of radial diaphysis
tree view: Abnormality of radial diaphysis
has db xref: UMLS:C4025431
has OBO namespace: human_phenotype
id: HP:0004030
type: Class
subclass of: Abnormality of radial diaphysis
notation: HP:0004030

Broad radial diaphysis
tree view: Abnormality of radial diaphysis
IAO_0000115: Increase in width of the diaphysis of radius.
has db xref: UMLS:C4021690
has exact synonym: Wide radial diaphysis
has OBO namespace: human_phenotype
id: HP:0004031
type: Class
comment: Increased diameter of the shaft (diaphysis) of the radius.
subclass of: Abnormality of radial diaphysis
notation: HP:0004031

Abnormality of the olecranon
tree view: Abnormality of the ulna
has db xref: UMLS:C4025430
has OBO namespace: human_phenotype
id: HP:0004032
type: Class
subclass of: Abnormality of the ulna
notation: HP:0004032

Curved olecranon
tree view: Abnormality of the olecranon
has db xref: UMLS:C4025429
has OBO namespace: human_phenotype
id: HP:0004033
type: Class
subclass of: Abnormality of the olecranon
notation: HP:0004033

Irregular olecranon
tree view: Abnormality of the olecranon
has db xref: UMLS:C4025428
has OBO namespace: human_phenotype
id: HP:0004034
type: Class
subclass of: Abnormality of the olecranon
notation: HP:0004034

Abnormality of the styloid process of ulna
tree view: Abnormality of the ulnar epiphyses
has db xref: UMLS:C4025427
has OBO namespace: human_phenotype
id: HP:0004035
type: Class
subclass of: Abnormality of the ulnar epiphyses
notation: HP:0004035

Long styloid process of ulna
tree view: Abnormality of the styloid process of ulna
has db xref: UMLS:C4025426
has OBO namespace: human_phenotype
id: HP:0004036
type: Class
subclass of: Abnormality of the styloid process of ulna
notation: HP:0004036

Abnormality of the ulnar epiphyses
tree view: Abnormality of the ulna
tree view: Abnormality of upper limb epiphysis morphology
has db xref: UMLS:C4021689
has exact synonym: Abnormality of the epiphyseal plate of the ulna
has OBO namespace: human_phenotype
id: HP:0004037
type: Class
subclass of: Abnormality of the ulna
subclass of: Abnormality of upper limb epiphysis morphology
notation: HP:0004037

Bony spicule of ulnar epiphyseal plate
tree view: Abnormality of the ulnar epiphyses
has db xref: UMLS:C4025425
has OBO namespace: human_phenotype
id: HP:0004038
type: Class
subclass of: Abnormality of the ulnar epiphyses
notation: HP:0004038

Abnormality of ulnar metaphysis
tree view: Abnormality of the ulna
tree view: HP_0009809
has db xref: UMLS:C4025424
has OBO namespace: human_phenotype
id: HP:0004039
type: Class
subclass of: Abnormality of the ulna
subclass of: HP_0009809
notation: HP:0004039

Corner fragments of ulnar metaphysis
tree view: Abnormality of ulnar metaphysis
has db xref: UMLS:C4025423
has OBO namespace: human_phenotype
id: HP:0004040
type: Class
subclass of: Abnormality of ulnar metaphysis
notation: HP:0004040

Cupped ulnar metaphysis
tree view: Abnormality of ulnar metaphysis
has db xref: UMLS:C4025422
has OBO namespace: human_phenotype
id: HP:0004041
type: Class
subclass of: Abnormality of ulnar metaphysis
notation: HP:0004041

Ulnar metaphyseal irregularity
tree view: Upper-limb metaphyseal irregularity
tree view: Abnormality of ulnar metaphysis
IAO_0000115: Irregularity of the normally smooth surface of the metaphysis of the ulna.
has db xref: UMLS:C4021688
has exact synonym: Irregular ulnar metaphysis
has OBO namespace: human_phenotype
id: HP:0004042
type: Class
subclass of: Upper-limb metaphyseal irregularity
subclass of: Abnormality of ulnar metaphysis
notation: HP:0004042

Lytic defects of ulnar metaphysis
tree view: Abnormality of ulnar metaphysis
tree view: HP_0045039
has db xref: UMLS:C4025421
has OBO namespace: human_phenotype
id: HP:0004043
type: Class
subclass of: Abnormality of ulnar metaphysis
subclass of: HP_0045039
notation: HP:0004043

Pointed ulnar metaphysis
tree view: Abnormality of ulnar metaphysis
has db xref: UMLS:C4025420
has OBO namespace: human_phenotype
id: HP:0004044
type: Class
subclass of: Abnormality of ulnar metaphysis
notation: HP:0004044

Sloping ulnar metaphysis
tree view: Abnormality of ulnar metaphysis
IAO_0000115: A sloped configuration of the metaphysis (shaft) of the ulna.
has db xref: UMLS:C4025419
has OBO namespace: human_phenotype
id: HP:0004045
type: Class
subclass of: Abnormality of ulnar metaphysis
notation: HP:0004045

Spurred ulnar metaphysis
tree view: Spurred metaphyses of the upper limbs
tree view: Abnormality of ulnar metaphysis
has db xref: UMLS:C4025418
has OBO namespace: human_phenotype
id: HP:0004046
type: Class
subclass of: Spurred metaphyses of the upper limbs
subclass of: Abnormality of ulnar metaphysis
notation: HP:0004046

Wide ulnar metaphysis
tree view: Upper limb metaphyseal widening
tree view: Abnormality of ulnar metaphysis
IAO_0000115: Increase in width (breadth) of the ulnar metaphysis.
has db xref: UMLS:C4021687
has exact synonym: Broad ulnar metaphysis
has OBO namespace: human_phenotype
id: HP:0004047
type: Class
subclass of: Upper limb metaphyseal widening
subclass of: Abnormality of ulnar metaphysis
notation: HP:0004047

Narrow joint spaces of wrist
tree view: Abnormality of the wrist
has db xref: UMLS:C4025417
has OBO namespace: human_phenotype
id: HP:0004048
type: Class
subclass of: Abnormality of the wrist
notation: HP:0004048

Decreased carpal angles of wrist
tree view: Abnormality of the wrist
has db xref: UMLS:C4025416
has OBO namespace: human_phenotype
id: HP:0004049
type: Class
subclass of: Abnormality of the wrist
notation: HP:0004049

Absent hand
tree view: HP_0005927
IAO_0000115: The total absence of the hand, with no bony elements distal to the radius or ulna.
has db xref: SNOMEDCT_US:371199008
has db xref: UMLS:C0265594
has exact synonym: Absent hand
has exact synonym: Acheiria
has OBO namespace: human_phenotype
id: HP:0004050
in subset: hposlim core
type: Class
subclass of: HP_0005927
notation: HP:0004050

Advanced ossification of the hand bones
tree view: HP_0010660
IAO_0000115: Ossification of hand bones at an earlier age than normal.
has db xref: UMLS:C4020834
has OBO namespace: human_phenotype
has related synonym: Accelerated maturation of hand bones
has related synonym: Advanced maturation of the hand bones
id: HP:0004051
type: Class
subclass of: HP_0010660
notation: HP:0004051

Delayed ossification of the hand bones
tree view: HP_0010660
IAO_0000115: Ossification of hand bones is less advanced than would be expected according to age-adjusted norms.
has db xref: UMLS:C4020833
has db xref: UMLS:C4021686
has exact synonym: Delay maturation/delayed ossification of the hand
has OBO namespace: human_phenotype
has related synonym: Delayed maturation of the hand bones
id: HP:0004052
type: Class
subclass of: HP_0010660
notation: HP:0004052

Dysharmonic maturation of the hand bones
tree view: HP_0010660
IAO_0000115: Pattern of hand-wrist development does not fit the normal sequence of ossification of the individual bones of the hand.
has alternative id: HP:0006204
has db xref: UMLS:C4021685
has exact synonym: Disharmonic maturation of the hand bones
has exact synonym: Dysharmonic ossification of the hand bones
has OBO namespace: human_phenotype
id: HP:0004053
type: Class
subclass of: HP_0010660
notation: HP:0004053

Sclerosis of hand bone
tree view: HP_0011001
IAO_0000115: Osteosclerosis affecting one or more bones of the hand.
has alternative id: HP:0004055
has db xref: UMLS:C4021684
has exact synonym: Generalized sclerosis of hand bones
has exact synonym: Hand bone sclerosis
has exact synonym: Increased bone density in hand bone
has OBO namespace: human_phenotype
id: HP:0004054
type: Class
subclass of: HP_0011001
notation: HP:0004054

HP_0004055
IAO_0000231: IAO_0000227
IAO_0100001: Sclerosis of hand bone
type: Class
deprecated: true
notation: HP:0004055

HP_0004056
IAO_0000231: IAO_0000227
IAO_0100001: HP_0006159
type: Class
deprecated: true
notation: HP:0004056

Mitten deformity
tree view: HP_0005922
IAO_0000115: Fusion of the hands and feet by a thin membrane of skin (scarring) seen in forms of dystrophic epidermolysis bullosa and leading to a "mitten" hand deformity.
has db xref: UMLS:C1969236
has exact synonym: Pseudosyndactyly
has OBO namespace: human_phenotype
id: HP:0004057
type: Class
comment: Mitten deformity is also referred to as pseudosyndactyly, which should not be confused with true syndactyly (actual and complete fusion of fingers). Antenatally, pseudosyndactyly can be misinterpreted as syndactyly.
subclass of: HP_0005922
notation: HP:0004057

Hand monodactyly
tree view: Hand oligodactyly
has db xref: UMLS:C4025415
has OBO namespace: human_phenotype
id: HP:0004058
type: Class
subclass of: Hand oligodactyly
notation: HP:0004058

Radial club hand
tree view: HP_0006501
tree view: HP_0009486
IAO_0000115: Wrist is bent inward toward the thumb because of a congenital defect associated with shortening or absence of the radius.
has db xref: UMLS:C4025414
has exact synonym: Radial dysplasia
has OBO namespace: human_phenotype
id: HP:0004059
type: Class
subclass of: HP_0006501
subclass of: HP_0009486
notation: HP:0004059

Trident hand
tree view: Abnormality of finger
IAO_0000115: A hand in which the fingers are of nearly equal length and deflected at the first interphalangeal joint, so as to give a forklike shape consisting of separation of the first and second as well as the third and fourth digits.
has db xref: SNOMEDCT_US:249755001
has db xref: UMLS:C0426874
has exact synonym: trident abnormality
has exact synonym: trident deformity
has OBO namespace: human_phenotype
id: HP:0004060
in subset: hposlim core
type: Class
comment: This abnormality is often seen in patients with achondroplasia.
subclass of: Abnormality of finger
notation: HP:0004060

HP_0004061
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009600
type: Class
deprecated: true
notation: HP:0004061

HP_0004062
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009603
type: Class
deprecated: true
notation: HP:0004062

HP_0004063
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009602
type: Class
deprecated: true
notation: HP:0004063

HP_0004064
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009602
type: Class
deprecated: true
notation: HP:0004064

HP_0004065
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009659
type: Class
deprecated: true
notation: HP:0004065

obsolete Laterally deviated thumb phalanges
consider: HP:0009602
has OBO namespace: human_phenotype
id: HP:0004066
type: Class
deprecated: true
notation: HP:0004066

HP_0004067
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009943
type: Class
deprecated: true
notation: HP:0004067

HP_0004068
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009656
type: Class
deprecated: true
notation: HP:0004068

HP_0004069
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009660
type: Class
deprecated: true
notation: HP:0004069

HP_0004070
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009944
type: Class
deprecated: true
notation: HP:0004070

HP_0004071
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009660
type: Class
deprecated: true
notation: HP:0004071

HP_0004072
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009657
type: Class
deprecated: true
notation: HP:0004072

HP_0004073
IAO_0000231: IAO_0000227
IAO_0100001: HP_0011304
type: Class
deprecated: true
notation: HP:0004073

HP_0004074
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009599
type: Class
deprecated: true
notation: HP:0004074

HP_0004075
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009688
type: Class
deprecated: true
notation: HP:0004075

HP_0004076
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009618
type: Class
deprecated: true
notation: HP:0004076

HP_0004077
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009637
type: Class
deprecated: true
notation: HP:0004077

HP_0004078
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009608
type: Class
deprecated: true
notation: HP:0004078

HP_0004079
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009638
type: Class
deprecated: true
notation: HP:0004079

HP_0004080
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009636
type: Class
deprecated: true
notation: HP:0004080

HP_0004081
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009617
type: Class
deprecated: true
notation: HP:0004081

HP_0004082
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009649
type: Class
deprecated: true
notation: HP:0004082

obsolete Laterally deviated terminal thumb phalanx
consider: HP:0005895
has OBO namespace: human_phenotype
id: HP:0004083
type: Class
deprecated: true
notation: HP:0004083

HP_0004084
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009606
type: Class
deprecated: true
notation: HP:0004084

HP_0004085
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009650
type: Class
deprecated: true
notation: HP:0004085

HP_0004086
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009611
type: Class
deprecated: true
notation: HP:0004086

HP_0004087
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009650
type: Class
deprecated: true
notation: HP:0004087

HP_0004088
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009642
type: Class
deprecated: true
notation: HP:0004088

HP_0004089
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009662
type: Class
deprecated: true
notation: HP:0004089

obsolete Advanced maturation/advanced ossification of terminal thumb phalanx epiphysis
consider: HP:0009662
has OBO namespace: human_phenotype
id: HP:0004090
type: Class
deprecated: true
notation: HP:0004090

HP_0004091
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009677
type: Class
deprecated: true
notation: HP:0004091

HP_0004092
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009678
type: Class
deprecated: true
notation: HP:0004092

HP_0004093
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009380
type: Class
deprecated: true
notation: HP:0004093

HP_0004094
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009473
type: Class
deprecated: true
notation: HP:0004094

Curved fingers
tree view: Abnormality of finger
tree view: HP_0005922
has db xref: UMLS:C4025413
has exact synonym: Curved fingers
has OBO namespace: human_phenotype
id: HP:0004095
type: Class
subclass of: Abnormality of finger
subclass of: HP_0005922
notation: HP:0004095

HP_0004096
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009465
type: Class
deprecated: true
notation: HP:0004096

Deviation of finger
tree view: Abnormality of finger
tree view: HP_0009484
IAO_0000115: Deviated fingers is a term that should be used if one or more fingers of the hand are deviated from their normal position, either to the radial or ulnar side. A deviation of a finger can be caused by an abnormal form of one or more of the phalanges of the affected finger, or by a deviation or displacement of one or more phalanges.
has alternative id: HP:0006229
has db xref: SNOMEDCT_US:203556007
has db xref: SNOMEDCT_US:26517000
has db xref: UMLS:C0410740
has exact synonym: Atypical position of finger
has exact synonym: Deviated fingers
has exact synonym: Finger pointing in a different direction than usual
has OBO namespace: human_phenotype
id: HP:0004097
type: Class
subclass of: Abnormality of finger
subclass of: HP_0009484
notation: HP:0004097

HP_0004098
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009381
type: Class
deprecated: true
notation: HP:0004098

Macrodactyly
tree view: HP_0011297
IAO_0000115: Significant increase in the length and girth of most or all of a digit compared to its contralateral digit (if unaffected) or compared to what would be expected for age/body build. The increased girth is accompanied by an increase in the dorso-ventral dimension AND the lateral dimension of the digit.
has db xref: MEDDRA:10025386
has db xref: MSH:C562546
has db xref: SNOMEDCT_US:48449000
has db xref: UMLS:C0265552
has exact synonym: Finger overgrowth
has exact synonym: Megalodactyly
has OBO namespace: human_phenotype
id: HP:0004099
in subset: hposlim core
type: Class
comment: There are no recognized standards for the girth of digits and this finding can vary substantially in the population. This assessment relies on the judgment of the examiner to recognize when the difference between the expected and the observed is significant. The affected digits should be specified. The definition does not mandate the component of the increased size (bone, connective tissue, etc.), but should exclude edema. The requirement that the girth is most, or all, of the digit is intended to distinguish this from broad fingertips. This should be distinguished from Broad fingers or Broad fingertips as the girth is circumferential in macrodactyly, which is not the case for broad fingers or broad fingertips, which are increased only (or predominantly) in their lateral (A/P) width.
subclass of: HP_0011297
notation: HP:0004099

Abnormal 2nd finger morphology
tree view: Abnormality of finger
IAO_0000115: An anomaly of the second finger, also known as the index finger.
has db xref: UMLS:C4021683
has exact synonym: Abnormality of index finger
has exact synonym: Abnormality of the 2nd finger
has OBO namespace: human_phenotype
id: HP:0004100
type: Class
subclass of: Abnormality of finger
notation: HP:0004100

HP_0004101
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009468
type: Class
deprecated: true
notation: HP:0004101

HP_0004102
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009464
type: Class
deprecated: true
notation: HP:0004102

HP_0004103
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009467
type: Class
deprecated: true
notation: HP:0004103

HP_0004104
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009536
type: Class
deprecated: true
notation: HP:0004104

HP_0004105
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009541
type: Class
deprecated: true
notation: HP:0004105

HP_0004106
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009535
type: Class
deprecated: true
notation: HP:0004106

HP_0004107
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009495
type: Class
deprecated: true
notation: HP:0004107

HP_0004108
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009561
type: Class
deprecated: true
notation: HP:0004108

HP_0004109
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009489
type: Class
deprecated: true
notation: HP:0004109

obsolete Radially deviated index finger phalanges
consider: HP:0009542
has OBO namespace: human_phenotype
id: HP:0004110
type: Class
deprecated: true
notation: HP:0004110

HP_0004111
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009542
type: Class
deprecated: true
notation: HP:0004111

Midline nasal groove
tree view: Midline defect of the nose
IAO_0000115: An abnormal groove on the midline of the nose that may extend to the nasal tip.
created by: peter
creation date: 2009-01-21T04:59:08Z
has db xref: UMLS:C4025412
has exact synonym: Central nasal groove
has exact synonym: Midline nasal groove
has OBO namespace: human_phenotype
id: HP:0004112
type: Class
subclass of: Midline defect of the nose
notation: HP:0004112

HP_0004113
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009536
type: Class
deprecated: true
notation: HP:0004113

HP_0004114
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009550
type: Class
deprecated: true
notation: HP:0004114

HP_0004115
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009536
type: Class
deprecated: true
notation: HP:0004115

HP_0004116
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009545
type: Class
deprecated: true
notation: HP:0004116

HP_0004117
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009546
type: Class
deprecated: true
notation: HP:0004117

HP_0004118
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009547
type: Class
deprecated: true
notation: HP:0004118

HP_0004119
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009544
type: Class
deprecated: true
notation: HP:0004119

HP_0004120
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009525
type: Class
deprecated: true
notation: HP:0004120

obsolete Radially displaced proximal index finger phalanx
consider: HP:0009544
has OBO namespace: human_phenotype
id: HP:0004121
type: Class
deprecated: true
notation: HP:0004121

Midline defect of the nose
tree view: HP_0005105
IAO_0000115: This term groups together three conditions that presumably represent different degrees of severity of a midline defect of the nose or nasal tip.
created by: peter
creation date: 2009-01-21T04:59:54Z
has alternative id: HP:0003190
has db xref: UMLS:C4025411
has db xref: UMLS:C4280539
has exact synonym: Central defect of nose
has exact synonym: Central nasal defect
has exact synonym: Midline defect of the nose
has exact synonym: Midline nasal defect
has OBO namespace: human_phenotype
has related synonym: Central cleft of nose
has related synonym: Midline cleft of nose
id: HP:0004122
type: Class
subclass of: HP_0005105
notation: HP:0004122

HP_0004123
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009584
type: Class
deprecated: true
notation: HP:0004123

HP_0004124
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009597
type: Class
deprecated: true
notation: HP:0004124

HP_0004125
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009587
type: Class
deprecated: true
notation: HP:0004125

HP_0004126
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009581
type: Class
deprecated: true
notation: HP:0004126

HP_0004127
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009501
type: Class
deprecated: true
notation: HP:0004127

HP_0004128
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009526
type: Class
deprecated: true
notation: HP:0004128

HP_0004129
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009527
type: Class
deprecated: true
notation: HP:0004129

HP_0004130
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009534
type: Class
deprecated: true
notation: HP:0004130

HP_0004131
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009543
type: Class
deprecated: true
notation: HP:0004131

Dimple on nasal tip
tree view: Abnormality of the nasal tip
IAO_0000115: An abnormal indentation of the skin in the region of the nasal tip.
created by: peter
creation date: 2009-01-21T05:05:55Z
has db xref: UMLS:C1863349
has exact synonym: Dimple on nasal tip
has exact synonym: Dimpled tip of nose
has OBO namespace: human_phenotype
id: HP:0004132
type: Class
subclass of: Abnormality of the nasal tip
notation: HP:0004132

HP_0004133
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009577
type: Class
deprecated: true
notation: HP:0004133

HP_0004134
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009572
type: Class
deprecated: true
notation: HP:0004134

HP_0004135
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009500
type: Class
deprecated: true
notation: HP:0004135

HP_0004136
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009513
type: Class
deprecated: true
notation: HP:0004136

HP_0004137
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009515
type: Class
deprecated: true
notation: HP:0004137

obsolete Metaphyseal abnormality of middle phalanx of the 2nd finger
consider: HP:0009541
has OBO namespace: human_phenotype
id: HP:0004138
type: Class
deprecated: true
notation: HP:0004138

obsolete Flared metaphysis of middle phalanx of index finger
consider: HP:0009569
has OBO namespace: human_phenotype
id: HP:0004139
type: Class
deprecated: true
notation: HP:0004139

HP_0004140
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009542
type: Class
deprecated: true
notation: HP:0004140

HP_0004141
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009565
type: Class
deprecated: true
notation: HP:0004141

HP_0004142
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009561
type: Class
deprecated: true
notation: HP:0004142

obsolete Radially deviated terminal index finger phalanx
consider: HP:0009542
has OBO namespace: human_phenotype
id: HP:0004143
type: Class
deprecated: true
notation: HP:0004143

obsolete Duplication of terminal index finger phalanx
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009948
IAO_0100001: HP:0009948
has OBO namespace: human_phenotype
id: HP:0004144
type: Class
deprecated: true
notation: HP:0004144

HP_0004145
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009566
type: Class
deprecated: true
notation: HP:0004145

HP_0004146
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009499
type: Class
deprecated: true
notation: HP:0004146

HP_0004147
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009502
type: Class
deprecated: true
notation: HP:0004147

HP_0004148
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009508
type: Class
deprecated: true
notation: HP:0004148

HP_0004149
IAO_0000231: IAO_0000227
IAO_0100001: Death in childhood
type: Class
deprecated: true
notation: HP:0004149

Abnormal 3rd finger morphology
tree view: Abnormality of finger
IAO_0000115: An anomaly of the third finger.
has db xref: UMLS:C4021682
has exact synonym: Abnormality of the 3rd finger
has exact synonym: Abnormality of the middle finger
has OBO namespace: human_phenotype
id: HP:0004150
type: Class
subclass of: Abnormality of finger
notation: HP:0004150

HP_0004151
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009319
type: Class
deprecated: true
notation: HP:0004151

HP_0004152
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009317
type: Class
deprecated: true
notation: HP:0004152

obsolete Overgrowth of middle finger
consider: HP:0009316
has OBO namespace: human_phenotype
id: HP:0004153
type: Class
deprecated: true
notation: HP:0004153

HP_0004154
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009461
type: Class
deprecated: true
notation: HP:0004154

HP_0004155
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009316
type: Class
deprecated: true
notation: HP:0004155

HP_0004156
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009447
type: Class
deprecated: true
notation: HP:0004156

obsolete Accessory middle-finger phalanges
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009963
IAO_0100001: HP:0009963
has OBO namespace: human_phenotype
id: HP:0004157
type: Class
deprecated: true
notation: HP:0004157

HP_0004158
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009447
type: Class
deprecated: true
notation: HP:0004158

HP_0004159
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009443
type: Class
deprecated: true
notation: HP:0004159

HP_0004160
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009444
type: Class
deprecated: true
notation: HP:0004160

obsolete Periosteal new bone of middle finger phalanges
consider: HP:0009316
has OBO namespace: human_phenotype
id: HP:0004161
type: Class
deprecated: true
notation: HP:0004161

obsolete Radially pointed middle finger phalanges
consider: HP:0009316
has OBO namespace: human_phenotype
id: HP:0004162
type: Class
deprecated: true
notation: HP:0004162

HP_0004163
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009417
type: Class
deprecated: true
notation: HP:0004163

HP_0004164
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009447
type: Class
deprecated: true
notation: HP:0004164

HP_0004165
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009447
type: Class
deprecated: true
notation: HP:0004165

HP_0004166
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009440
type: Class
deprecated: true
notation: HP:0004166

HP_0004167
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009358
type: Class
deprecated: true
notation: HP:0004167

obsolete Radially pointed proximal middle-finger phalanx
consider: HP:0009316
has OBO namespace: human_phenotype
id: HP:0004168
type: Class
deprecated: true
notation: HP:0004168

HP_0004169
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009459
type: Class
deprecated: true
notation: HP:0004169

HP_0004170
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009459
type: Class
deprecated: true
notation: HP:0004170

HP_0004171
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009349
type: Class
deprecated: true
notation: HP:0004171

Abnormality of the middle phalanx of the 3rd finger
tree view: HP_0009316
has db xref: UMLS:C4025410
has exact synonym: Abnormal middle finger bone of the middle finger
has OBO namespace: human_phenotype
id: HP:0004172
type: Class
subclass of: HP_0009316
notation: HP:0004172

HP_0004173
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009438
type: Class
deprecated: true
notation: HP:0004173

obsolete Accessory middle phalanx of middle finger
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009963
IAO_0100001: HP:0009963
has OBO namespace: human_phenotype
id: HP:0004174
type: Class
deprecated: true
notation: HP:0004174

obsolete Periosteal new bone of middle phalanx of middle-finger
consider: HP:0004172
has OBO namespace: human_phenotype
id: HP:0004175
type: Class
deprecated: true
notation: HP:0004175

HP_0004176
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009328
type: Class
deprecated: true
notation: HP:0004176

HP_0004177
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009439
type: Class
deprecated: true
notation: HP:0004177

HP_0004178
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009430
type: Class
deprecated: true
notation: HP:0004178

HP_0004179
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009357
type: Class
deprecated: true
notation: HP:0004179

Short distal phalanx of the 3rd finger
tree view: HP_0009421
tree view: HP_0009461
tree view: HP_0009882
IAO_0000115: Hypoplasia (congenital reduction in size) of the distal phalanx of the third finger.
has alternative id: HP:0004182
has db xref: UMLS:C4021681
has exact synonym: Hypoplastic/small distal phalanx of the 3rd finger
has exact synonym: Short distal phalanx of the third finger
has exact synonym: Short outermost bone of the middle finger
has exact synonym: Short terminal phalanx of middle finger
has OBO namespace: human_phenotype
id: HP:0004180
type: Class
subclass of: HP_0009421
subclass of: HP_0009461
subclass of: HP_0009882
notation: HP:0004180

HP_0004181
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009424
type: Class
deprecated: true
notation: HP:0004181

HP_0004182
IAO_0000231: IAO_0000227
IAO_0100001: Short distal phalanx of the 3rd finger
type: Class
deprecated: true
notation: HP:0004182

obsolete Abnormality of the epiphyses of the terminal phalanx of the middle finger
consider: HP:0009357
has OBO namespace: human_phenotype
id: HP:0004183
type: Class
deprecated: true
notation: HP:0004183

obsolete Cone-shaped epiphysis of terminal phalanx of the middle finger
consider: HP:0009423
has OBO namespace: human_phenotype
id: HP:0004184
type: Class
deprecated: true
notation: HP:0004184

obsolete Fused epiphysis of terminal phalanx of the middle finger
consider: HP:0009316
has OBO namespace: human_phenotype
id: HP:0004185
type: Class
deprecated: true
notation: HP:0004185

obsolete Large epiphysis of terminal phalanx of the middle finger
consider: HP:0009316
has OBO namespace: human_phenotype
id: HP:0004186
type: Class
deprecated: true
notation: HP:0004186

obsolete Prematurely fused epiphysis of terminal phalanx of the middle finger
consider: HP:0009316
has OBO namespace: human_phenotype
id: HP:0004187
type: Class
deprecated: true
notation: HP:0004187

Abnormal 4th finger morphology
tree view: Abnormality of finger
has db xref: UMLS:C4021680
has exact synonym: Abnormality of the 4th finger
has exact synonym: Abnormality of the ring finger
has OBO namespace: human_phenotype
id: HP:0004188
type: Class
subclass of: Abnormality of finger
notation: HP:0004188

HP_0004189
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009274
type: Class
deprecated: true
notation: HP:0004189

HP_0004190
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009280
type: Class
deprecated: true
notation: HP:0004190

HP_0004191
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009172
type: Class
deprecated: true
notation: HP:0004191

obsolete Bracket epiphyses of the 4th finger
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009394
IAO_0100001: HP:0009394
has OBO namespace: human_phenotype
id: HP:0004192
type: Class
deprecated: true
notation: HP:0004192

obsolete Expanded phalanges of the ring finger
consider: HP:0009172
has OBO namespace: human_phenotype
id: HP:0004193
type: Class
deprecated: true
notation: HP:0004193

obsolete Hypoplastic phalanges of the ring finger
consider: HP:0009408
has OBO namespace: human_phenotype
id: HP:0004194
type: Class
deprecated: true
notation: HP:0004194

Osteolytic defects of the phalanges of the 4th finger
tree view: HP_0009172
tree view: HP_0009771
IAO_0000115: Osteolytic defects of the phalanges of the 4th (ring) finger.
has db xref: UMLS:C4020832
has db xref: UMLS:C4025409
has OBO namespace: human_phenotype
has related synonym: Lytic defects of the phalanges of the ring finger
id: HP:0004195
type: Class
subclass of: HP_0009172
subclass of: HP_0009771
notation: HP:0004195

obsolete Short phalanges of the ring finger
consider: HP:0009408
has OBO namespace: human_phenotype
id: HP:0004196
type: Class
deprecated: true
notation: HP:0004196

Symphalangism of the 4th finger
tree view: HP_0009172
tree view: HP_0009700
tree view: HP_0009773
IAO_0000115: Fusion of two or more bones of the 4th finger.
has db xref: UMLS:C4021679
has exact synonym: Fused ring finger bones
has exact synonym: Symphalangism of the ring finger
has OBO namespace: human_phenotype
id: HP:0004197
type: Class
subclass of: HP_0009172
subclass of: HP_0009700
subclass of: HP_0009773
notation: HP:0004197

obsolete Wide/broad phalanges of the ring finger
consider: HP:0009172
has OBO namespace: human_phenotype
id: HP:0004198
type: Class
deprecated: true
notation: HP:0004198

HP_0004199
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009284
type: Class
deprecated: true
notation: HP:0004199

HP_0004200
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009262
type: Class
deprecated: true
notation: HP:0004200

obsolete Expanded proximal phalanx of the ring finger
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009310
IAO_0100001: HP:0009310
has OBO namespace: human_phenotype
id: HP:0004201
type: Class
deprecated: true
notation: HP:0004201

obsolete Lytic defects of the proximal phalanx of the ring finger
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009312
IAO_0100001: HP:0009312
has OBO namespace: human_phenotype
id: HP:0004202
type: Class
deprecated: true
notation: HP:0004202

obsolete Short proximal phalanx of the ring finger
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009300
IAO_0100001: HP:0009300
has OBO namespace: human_phenotype
id: HP:0004203
type: Class
deprecated: true
notation: HP:0004203

HP_0004204
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009283
type: Class
deprecated: true
notation: HP:0004204

HP_0004205
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009295
type: Class
deprecated: true
notation: HP:0004205

HP_0004206
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009295
type: Class
deprecated: true
notation: HP:0004206

Abnormal 5th finger morphology
tree view: Abnormality of finger
IAO_0000115: An abnormality affecting one or both 5th fingers.
has db xref: UMLS:C4021678
has exact synonym: Abnormality of the 5th finger
has exact synonym: Abnormality of the little finger
has exact synonym: Abnormality of the pinkie finger
has exact synonym: Abnormality of the pinky finger
has OBO namespace: human_phenotype
id: HP:0004207
type: Class
subclass of: Abnormality of finger
notation: HP:0004207

HP_0004208
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009237
type: Class
deprecated: true
notation: HP:0004208

Clinodactyly of the 5th finger
tree view: HP_0009179
tree view: HP_0040019
IAO_0000115: Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).
has alternative id: HP:0001158
has alternative id: HP:0001588
has alternative id: HP:0004212
has alternative id: HP:0006083
has alternative id: HP:0006181
has alternative id: HP:0009181
has broad synonym: Curvature of little finger
has broad synonym: Curvature of pinkie finger
has broad synonym: Curvature of pinky finger
has db xref: UMLS:C1850049
has db xref: UMLS:C4280538
has exact synonym: Bilateral fifth digit clinodactyly
has exact synonym: Bilateral fifth finger clinodactyly
has exact synonym: Clinodactyly of fifth digit
has exact synonym: Clinodactyly of the little finger
has exact synonym: Fifth finger clinodactyly
has exact synonym: Permanent curving of the pinkie finger
has OBO namespace: human_phenotype
id: HP:0004209
type: Class
comment: Minor degrees of curvature of the small finger are so common as to be considered normal.
subclass of: HP_0009179
subclass of: HP_0040019
notation: HP:0004209

HP_0004210
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009237
type: Class
deprecated: true
notation: HP:0004210

HP_0004211
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009237
type: Class
deprecated: true
notation: HP:0004211

HP_0004212
IAO_0000231: IAO_0000227
IAO_0100001: Clinodactyly of the 5th finger
type: Class
deprecated: true
notation: HP:0004212

Abnormal 5th finger phalanx morphology
tree view: Abnormal 5th finger morphology
tree view: HP_0005918
IAO_0000115: Abnormality of the phalanges of the 5th (little) finger.
has db xref: UMLS:C4025408
has exact synonym: Abnormality of the little finger bone
has exact synonym: Abnormality of the phalanges of the 5th finger
has exact synonym: Abnormality of the pinkie finger bone
has exact synonym: Abnormality of the pinky finger bone
has OBO namespace: human_phenotype
id: HP:0004213
type: Class
subclass of: Abnormal 5th finger morphology
subclass of: HP_0005918
notation: HP:0004213

Curved phalanges of the 5th finger
tree view: Curved fingers
tree view: Abnormal 5th finger phalanx morphology
tree view: HP_0009770
IAO_0000115: Curved phalanges of the 5th (little) finger.
has db xref: UMLS:C4025407
has exact synonym: Curved little finger bone
has exact synonym: Curved pinkie finger bone
has exact synonym: Curved pinky finger bone
has OBO namespace: human_phenotype
id: HP:0004214
type: Class
subclass of: Curved fingers
subclass of: Abnormal 5th finger phalanx morphology
subclass of: HP_0009770
notation: HP:0004214

HP_0004215
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009237
type: Class
deprecated: true
notation: HP:0004215

Osteolytic defects of the phalanges of the 5th finger
tree view: Abnormal 5th finger phalanx morphology
tree view: HP_0009771
IAO_0000115: Dissolution or degeneration of bone tissue of the phalanges of the 5th finger.
has db xref: UMLS:C4021677
has exact synonym: Lytic defects of the phalanges of the little finger
has OBO namespace: human_phenotype
id: HP:0004216
type: Class
subclass of: Abnormal 5th finger phalanx morphology
subclass of: HP_0009771
notation: HP:0004216

HP_0004217
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009237
type: Class
deprecated: true
notation: HP:0004217

Symphalangism of the 5th finger
tree view: Abnormal 5th finger phalanx morphology
tree view: HP_0009700
tree view: HP_0009773
IAO_0000115: Fusion of two or more bones of the 5th finger.
has db xref: UMLS:C4021676
has exact synonym: Fused little finger bones
has exact synonym: Fused pinkie finger bones
has exact synonym: Fused pinky finger bones
has exact synonym: Symphalagism of the little finger
has OBO namespace: human_phenotype
id: HP:0004218
type: Class
subclass of: Abnormal 5th finger phalanx morphology
subclass of: HP_0009700
subclass of: HP_0009773
notation: HP:0004218

Abnormality of the middle phalanx of the 5th finger
tree view: Abnormal 5th finger phalanx morphology
has db xref: UMLS:C4025406
has exact synonym: Abnormality of the middle bone of little finger
has exact synonym: Abnormality of the middle bone of pinkie finger
has exact synonym: Abnormality of the middle bone of pinky finger
has OBO namespace: human_phenotype
id: HP:0004219
type: Class
subclass of: Abnormal 5th finger phalanx morphology
notation: HP:0004219

Short middle phalanx of the 5th finger
tree view: HP_0005819
tree view: HP_0009161
tree view: HP_0009237
tree view: HP_0009370
IAO_0000115: Absence or underdevelopment (hypoplasia) of the middle phalanx of the fifth finger.
has alternative id: HP:0001243
has alternative id: HP:0003069
has alternative id: HP:0004221
has alternative id: HP:0005649
has alternative id: HP:0005706
has alternative id: HP:0005734
has alternative id: HP:0005813
has db xref: UMLS:C1834060
has exact synonym: 5th finger middle phalangeal hypoplasia
has exact synonym: Brachymesophalangism V
has exact synonym: Fifth finger mid-phalanx hypoplasia
has exact synonym: Hypoplastic fifth finger middle phalanx
has exact synonym: Hypoplastic middle phalanx of the 5th finger
has exact synonym: Hypoplastic/small middle phalanx of the 5th finger
has exact synonym: Hypoplastic/small middle phalanx of the little finger
has exact synonym: Short middle bone of the little finger
has exact synonym: Short middle bone of the pinkie finger
has exact synonym: Short middle bone of the pinky finger
has exact synonym: Short middle phalanx of the little finger
has exact synonym: Type A3 brachydactyly
has OBO namespace: human_phenotype
id: HP:0004220
type: Class
comment: Brachymesophalangia-V, a short and broad middle phalanx of the fifth digit, is the most common of all skeletal anomalies of the hand. When this feature appears alone, it is clinically known as brachydactyly type A3 (BDA3).
subclass of: HP_0005819
subclass of: HP_0009161
subclass of: HP_0009237
subclass of: HP_0009370
notation: HP:0004220

HP_0004221
IAO_0000231: IAO_0000227
IAO_0100001: Short middle phalanx of the 5th finger
type: Class
deprecated: true
notation: HP:0004221

Cone-shaped epiphysis of the distal phalanx of the 5th finger
tree view: HP_0009198
tree view: HP_0009384
tree view: HP_0010248
IAO_0000115: A cone-shaped appearance of the epiphysis of the distal phalanx of the little finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.
has db xref: UMLS:C4021675
has exact synonym: Cone-shaped end part of the outermost little finger bone
has exact synonym: Cone-shaped end part of the outermost pinkie finger bone
has exact synonym: Cone-shaped end part of the outermost pinky finger bone
has exact synonym: Cone-shaped epiphysis of the distal phalanx of the little finger
has OBO namespace: human_phenotype
id: HP:0004222
type: Class
subclass of: HP_0009198
subclass of: HP_0009384
subclass of: HP_0010248
notation: HP:0004222

Ivory epiphysis of the distal phalanx of the 5th finger
tree view: HP_0009198
tree view: HP_0009388
tree view: HP_0010252
IAO_0000115: Sclerosis of the epiphysis of the distal phalanx of the little finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.
has alternative id: HP:0004229
has db xref: UMLS:C4021674
has exact synonym: Increased bone density of end part of the outermost little finger bone
has exact synonym: Increased bone density of end part of the outermost pinkie finger bone
has exact synonym: Increased bone density of end part of the outermost pinky finger bone
has exact synonym: Ivory epiphysis of the distal phalanx of the little finger
has exact synonym: Ivory epiphysis of the terminal phalanx of the little finger
has OBO namespace: human_phenotype
id: HP:0004223
type: Class
subclass of: HP_0009198
subclass of: HP_0009388
subclass of: HP_0010252
notation: HP:0004223

Abnormality of the epiphysis of the middle phalanx of the 5th finger
tree view: Abnormality of the middle phalanx of the 5th finger
tree view: HP_0009152
tree view: HP_0010244
IAO_0000115: Abnormality of the epiphysis of the middle phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx.
has db xref: UMLS:C4025405
has exact synonym: Abnormality of the end part of middle little finger bone
has exact synonym: Abnormality of the end part of middle pinkie finger bone
has exact synonym: Abnormality of the end part of middle pinky finger bone
has OBO namespace: human_phenotype
id: HP:0004224
type: Class
subclass of: Abnormality of the middle phalanx of the 5th finger
subclass of: HP_0009152
subclass of: HP_0010244
notation: HP:0004224

Abnormality of the distal phalanx of the 5th finger
tree view: Abnormal 5th finger phalanx morphology
IAO_0000115: Abnormality of the distal phalanx of the 5th (little) finger.
has db xref: UMLS:C4021673
has exact synonym: Abnormality of the distal phalanx of the little finger
has exact synonym: Abnormality of the outermost little finger bone
has exact synonym: Abnormality of the outermost pinkie finger bone
has exact synonym: Abnormality of the outermost pinky finger bone
has exact synonym: Abnormality of the terminal phalanx of the little finger
has OBO namespace: human_phenotype
id: HP:0004225
type: Class
subclass of: Abnormal 5th finger phalanx morphology
notation: HP:0004225

Curved distal phalanx of the 5th finger
tree view: Curved phalanges of the 5th finger
tree view: Abnormality of the distal phalanx of the 5th finger
tree view: HP_0009838
IAO_0000115: Curved appearance of the distal phalanx of the 5th (little) finger.
has db xref: UMLS:C4021672
has exact synonym: Curved outermost little finger bone
has exact synonym: Curved outermost pinkie finger bone
has exact synonym: Curved outermost pinky finger bone
has exact synonym: Curved terminal phalanx of the little finger
has OBO namespace: human_phenotype
id: HP:0004226
type: Class
subclass of: Curved phalanges of the 5th finger
subclass of: Abnormality of the distal phalanx of the 5th finger
subclass of: HP_0009838
notation: HP:0004226

Short distal phalanx of the 5th finger
tree view: HP_0009237
tree view: HP_0009239
tree view: HP_0009882
IAO_0000115: Hypoplastic/small distal phalanx of the fifth finger.
has alternative id: HP:0006171
has db xref: UMLS:C1836674
has exact synonym: Brachytelophalangism V
has exact synonym: Fifth digit distal phalangeal hypoplasia
has exact synonym: Hypoplastic/small terminal phalanx of the little finger
has exact synonym: Short distal phalanx of the fifth finger
has exact synonym: Short outermost little finger bone
has exact synonym: Short outermost pinkie finger bone
has exact synonym: Short outermost pinky finger bone
has OBO namespace: human_phenotype
id: HP:0004227
type: Class
subclass of: HP_0009237
subclass of: HP_0009239
subclass of: HP_0009882
notation: HP:0004227

HP_0004228
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009198
type: Class
deprecated: true
notation: HP:0004228

HP_0004229
IAO_0000231: IAO_0000227
IAO_0100001: Ivory epiphysis of the distal phalanx of the 5th finger
type: Class
deprecated: true
notation: HP:0004229

Subluxation of the proximal interphalangeal joint of the little finger
tree view: Abnormal 5th finger morphology
tree view: HP_0032153
IAO_0000115: A partial dislocation of the proximal interphalangeal joint of the little finger.
has db xref: UMLS:C4025404
has exact synonym: Partially dislocated innermost hinge joint of little finger
has exact synonym: Partially dislocated innermost hinge joint of pinkie finger
has exact synonym: Partially dislocated innermost hinge joint of pinky finger
has OBO namespace: human_phenotype
id: HP:0004230
type: Class
subclass of: Abnormal 5th finger morphology
subclass of: HP_0032153
notation: HP:0004230

Carpal bone aplasia
tree view: HP_0006502
IAO_0000115: Congenital absence of a carpal bone.
has alternative id: HP:0005056
has alternative id: HP:0006020
has alternative id: HP:0006084
has broad synonym: Absent wrist bone
has broad synonym: Missing wrist bone
has db xref: UMLS:C1836219
has db xref: UMLS:C4280537
has exact synonym: Absent carpal bone
has exact synonym: Absent carpal bones
has exact synonym: Absent carpal ossification center
has exact synonym: Aplastic carpal bone
has OBO namespace: human_phenotype
id: HP:0004231
type: Class
comment: Radiographically difficult to distinguish between absent ossification of a carpal bone.
subclass of: HP_0006502
notation: HP:0004231

Accessory carpal bones
tree view: Abnormality of the carpal bones
tree view: Duplication of hand bones
IAO_0000115: The presence of more than the normal number of carpal bones.
has broad synonym: Extra wrist bones
has db xref: SNOMEDCT_US:20136007
has db xref: SNOMEDCT_US:9181003
has db xref: UMLS:C0265609
has exact synonym: Supernumerary carpal bones
has OBO namespace: human_phenotype
id: HP:0004232
type: Class
subclass of: Abnormality of the carpal bones
subclass of: Duplication of hand bones
notation: HP:0004232

Advanced ossification of carpal bones
tree view: HP_0006257
IAO_0000115: Ossification of carpal bones at an abnormally early age.
has alternative id: HP:0006104
has broad synonym: Accelerated wrist bone maturation
has db xref: UMLS:C1849292
has db xref: UMLS:C4280536
has exact synonym: Accelerated carpal bone maturation
has exact synonym: Advanced carpal bone age
has exact synonym: Advanced carpal ossification
has exact synonym: Precociously ossified carpal bones
has OBO namespace: human_phenotype
id: HP:0004233
type: Class
subclass of: HP_0006257
notation: HP:0004233

Bone-in-a-bone appearance of carpal bones
tree view: HP_0009164
tree view: HP_0011001
IAO_0000115: The bone-in-bone sign is a radiographic finding produced by increased sclerosis (abnormally dense bone) occurring intermittently with zones of relatively normal bone density. This term should be used to describe such a finding in the carpal bones.
has broad synonym: Bone-in-a-bone appearance of wrist bones
has db xref: UMLS:C4025403
has OBO namespace: human_phenotype
id: HP:0004234
type: Class
subclass of: HP_0009164
subclass of: HP_0011001
notation: HP:0004234

Comma-shaped carpal bones
tree view: HP_0006014
has broad synonym: Comma-shaped wrist bones
has db xref: UMLS:C4025402
has OBO namespace: human_phenotype
id: HP:0004235
type: Class
subclass of: HP_0006014
notation: HP:0004235

Irregular carpal bones
tree view: HP_0006014
IAO_0000115: Carpal bones with irregular or fragmented margins.
has broad synonym: Irregular wrist bones
has db xref: UMLS:C4025401
has OBO namespace: human_phenotype
id: HP:0004236
type: Class
subclass of: HP_0006014
notation: HP:0004236

Large carpal bones
tree view: HP_0006014
IAO_0000115: Increased size of carpal bones.
has broad synonym: Large wrist bones
has db xref: UMLS:C4021671
has exact synonym: Large carpals
has OBO namespace: human_phenotype
id: HP:0004237
in subset: hposlim core
type: Class
subclass of: HP_0006014
notation: HP:0004237

Lytic defects of carpal bones
tree view: Carpal osteolysis
has db xref: UMLS:C4025400
has OBO namespace: human_phenotype
id: HP:0004238
type: Class
subclass of: Carpal osteolysis
notation: HP:0004238

Proximally placed carpal bones
tree view: Abnormality of the carpal bones
has db xref: UMLS:C4025399
has OBO namespace: human_phenotype
id: HP:0004239
type: Class
subclass of: Abnormality of the carpal bones
notation: HP:0004239

Sclerotic foci within carpal bones
tree view: Sclerosis of hand bone
tree view: HP_0009164
has broad synonym: Hardened spots within wrist bones
has broad synonym: Stiffened spots within wrist bones
has db xref: UMLS:C4025398
has db xref: UMLS:C4280535
has OBO namespace: human_phenotype
id: HP:0004240
type: Class
subclass of: Sclerosis of hand bone
subclass of: HP_0009164
notation: HP:0004240

Stippled calcification in carpal bones
tree view: Sclerosis of hand bone
tree view: HP_0009164
IAO_0000115: Point-shaped (punctate) calcifications affecting the carpal bones.
has alternative id: HP:0006177
has db xref: UMLS:C1844846
has exact synonym: Punctate calcifications of carpals
has OBO namespace: human_phenotype
id: HP:0004241
type: Class
subclass of: Sclerosis of hand bone
subclass of: HP_0009164
notation: HP:0004241

Broad carpal bones
tree view: Large carpal bones
has broad synonym: Wide wrist bones
has db xref: UMLS:C3554618
has exact synonym: Wide carpal bones
has OBO namespace: human_phenotype
id: HP:0004242
type: Class
subclass of: Large carpal bones
notation: HP:0004242

Abnormality of the scaphoid
tree view: Abnormality of the carpal bones
has db xref: UMLS:C4025397
has OBO namespace: human_phenotype
id: HP:0004243
type: Class
subclass of: Abnormality of the carpal bones
notation: HP:0004243

Accessory scaphoid
tree view: Accessory carpal bones
tree view: Abnormality of the scaphoid
has db xref: UMLS:C4025396
has OBO namespace: human_phenotype
id: HP:0004244
type: Class
subclass of: Accessory carpal bones
subclass of: Abnormality of the scaphoid
notation: HP:0004244

Comma-shaped scaphoid
tree view: Comma-shaped carpal bones
tree view: Abnormality of the scaphoid
has db xref: UMLS:C4025395
has OBO namespace: human_phenotype
id: HP:0004245
type: Class
subclass of: Comma-shaped carpal bones
subclass of: Abnormality of the scaphoid
notation: HP:0004245

Delayed ossification of the scaphoid
tree view: Delayed ossification of carpal bones
tree view: HP_0045003
IAO_0000115: Formation of bone tissue of scaphoid is less than expected for age.
has db xref: UMLS:C4021670
has exact synonym: Delayed maturation of the scaphoid
has OBO namespace: human_phenotype
id: HP:0004246
type: Class
subclass of: Delayed ossification of carpal bones
subclass of: HP_0045003
notation: HP:0004246

Small scaphoid
tree view: Carpal bone hypoplasia
tree view: Abnormality of the scaphoid
IAO_0000115: Underdevelopment of the scaphoid.
has db xref: UMLS:C4025394
has OBO namespace: human_phenotype
id: HP:0004247
type: Class
subclass of: Carpal bone hypoplasia
subclass of: Abnormality of the scaphoid
notation: HP:0004247

Abnormality of the lunate bone
tree view: Abnormality of the carpal bones
has db xref: UMLS:C4025393
has OBO namespace: human_phenotype
id: HP:0004248
type: Class
subclass of: Abnormality of the carpal bones
notation: HP:0004248

Accessory lunate
tree view: Accessory carpal bones
tree view: Abnormality of the lunate bone
has db xref: UMLS:C4025392
has OBO namespace: human_phenotype
id: HP:0004249
type: Class
subclass of: Accessory carpal bones
subclass of: Abnormality of the lunate bone
notation: HP:0004249

Proximally placed lunate
tree view: Proximally placed carpal bones
tree view: Abnormality of the lunate bone
has db xref: UMLS:C4025391
has OBO namespace: human_phenotype
id: HP:0004250
type: Class
subclass of: Proximally placed carpal bones
subclass of: Abnormality of the lunate bone
notation: HP:0004250

Lunate-triquetral fusion
tree view: Abnormality of the lunate bone
IAO_0000115: Osseous fusion of the lunate and triquetrum.
has db xref: UMLS:C1867930
has exact synonym: Lunotriquetral synostosis
has OBO namespace: human_phenotype
id: HP:0004251
type: Class
comment: Synostosis of the carpal bones is a rare congenital condition. Lunate and triquetrum are the bones more commonly involved.
subclass of: Abnormality of the lunate bone
notation: HP:0004251

Abnormality of the trapezium
tree view: Abnormality of the carpal bones
IAO_0000115: An anomaly of trapezium.
has db xref: UMLS:C4025390
has OBO namespace: human_phenotype
id: HP:0004252
type: Class
subclass of: Abnormality of the carpal bones
notation: HP:0004252

Absent trapezium
tree view: Abnormality of the trapezium
tree view: HP_0006257
has db xref: UMLS:C1847190
has exact synonym: Absent trapezium bone
has OBO namespace: human_phenotype
id: HP:0004253
type: Class
subclass of: Abnormality of the trapezium
subclass of: HP_0006257
notation: HP:0004253

Delayed ossification of the trapezium
tree view: Delayed ossification of carpal bones
tree view: HP_0045001
IAO_0000115: Formation of bone tissue of trapezium is less than expected for age.
has db xref: UMLS:C4021669
has exact synonym: Delayed maturation of the trapezium
has OBO namespace: human_phenotype
id: HP:0004254
type: Class
subclass of: Delayed ossification of carpal bones
subclass of: HP_0045001
notation: HP:0004254

Small trapezium
tree view: Carpal bone hypoplasia
tree view: Abnormality of the trapezium
IAO_0000115: Underdevelopment of the trapezium.
has db xref: UMLS:C4025389
has OBO namespace: human_phenotype
id: HP:0004255
type: Class
subclass of: Carpal bone hypoplasia
subclass of: Abnormality of the trapezium
notation: HP:0004255

Abnormality of the trapezoid bone
tree view: Abnormality of the carpal bones
has db xref: UMLS:C4025388
has OBO namespace: human_phenotype
id: HP:0004256
type: Class
subclass of: Abnormality of the carpal bones
notation: HP:0004256

Delayed ossification of the trapezoid bone
tree view: Delayed ossification of carpal bones
tree view: HP_0045004
IAO_0000115: Formation of bone tissue of trapezoid is less than expected for age.
has db xref: UMLS:C4021668
has exact synonym: Delayed maturation of the trapezoid bone
has OBO namespace: human_phenotype
id: HP:0004257
type: Class
subclass of: Delayed ossification of carpal bones
subclass of: HP_0045004
notation: HP:0004257

Small trapezoid bone
tree view: Carpal bone hypoplasia
tree view: Abnormality of the trapezoid bone
IAO_0000115: Underdevelopment of the trapezoid.
has db xref: UMLS:C4025387
has OBO namespace: human_phenotype
id: HP:0004258
type: Class
subclass of: Carpal bone hypoplasia
subclass of: Abnormality of the trapezoid bone
notation: HP:0004258

Abnormality of the hamate bone
tree view: Abnormality of the carpal bones
has db xref: UMLS:C4025386
has OBO namespace: human_phenotype
id: HP:0004259
type: Class
subclass of: Abnormality of the carpal bones
notation: HP:0004259

Large hamate bone
tree view: Large carpal bones
tree view: Abnormality of the hamate bone
has db xref: UMLS:C4025385
has exact synonym: Large unciform bone
has OBO namespace: human_phenotype
id: HP:0004260
type: Class
subclass of: Large carpal bones
subclass of: Abnormality of the hamate bone
notation: HP:0004260

Wide hamate bone
tree view: Broad carpal bones
tree view: Large hamate bone
has db xref: UMLS:C4021667
has exact synonym: Broad hamate bone
has exact synonym: Wide unciform bone
has OBO namespace: human_phenotype
id: HP:0004261
type: Class
subclass of: Broad carpal bones
subclass of: Large hamate bone
notation: HP:0004261

Abnormality of the capitate bone
tree view: Abnormality of the carpal bones
has db xref: UMLS:C4025384
has OBO namespace: human_phenotype
id: HP:0004262
type: Class
subclass of: Abnormality of the carpal bones
notation: HP:0004262

Large capitate bone
tree view: Large carpal bones
tree view: Abnormality of the capitate bone
has db xref: UMLS:C4025383
has OBO namespace: human_phenotype
id: HP:0004263
type: Class
subclass of: Large carpal bones
subclass of: Abnormality of the capitate bone
notation: HP:0004263

Narrow carpal joint spaces
tree view: Abnormality of the carpal bones
has alternative id: HP:0004265
has db xref: UMLS:C4021666
has exact synonym: Decreased carpal joint angles
has OBO namespace: human_phenotype
id: HP:0004264
type: Class
subclass of: Abnormality of the carpal bones
notation: HP:0004264

HP_0004265
IAO_0000231: IAO_0000227
IAO_0100001: Narrow carpal joint spaces
type: Class
deprecated: true
notation: HP:0004265

HP_0004266
IAO_0000231: IAO_0000227
IAO_0100001: HP_0006261
type: Class
deprecated: true
notation: HP:0004266

Narrow small joints of the hand
tree view: HP_0006261
has db xref: UMLS:C4025382
has exact synonym: Narrow small joints of the hand
has OBO namespace: human_phenotype
id: HP:0004267
type: Class
subclass of: HP_0006261
notation: HP:0004267

Osteoarthritis of the small joints of the hand
tree view: Osteoarthritis
tree view: HP_0006261
has db xref: UMLS:C4025381
has OBO namespace: human_phenotype
id: HP:0004268
type: Class
subclass of: Osteoarthritis
subclass of: HP_0006261
notation: HP:0004268

Subluxation of the small joints of the hand
tree view: HP_0006261
tree view: HP_0032153
IAO_0000115: A partial dislocation of some or all of the small joints of the hand.
has db xref: UMLS:C4025380
has exact synonym: Partial dislocation of small joints of hand
has OBO namespace: human_phenotype
id: HP:0004269
type: Class
subclass of: HP_0006261
subclass of: HP_0032153
notation: HP:0004269

HP_0004270
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009769
type: Class
deprecated: true
notation: HP:0004270

Cortical thickening of hand bones
tree view: HP_0005926
tree view: HP_0100039
has db xref: UMLS:C4025379
has OBO namespace: human_phenotype
id: HP:0004271
type: Class
subclass of: HP_0005926
subclass of: HP_0100039
notation: HP:0004271

Cortical thinning of hand bones
tree view: Thin bony cortex
tree view: HP_0005926
has db xref: UMLS:C4025378
has OBO namespace: human_phenotype
id: HP:0004272
type: Class
subclass of: Thin bony cortex
subclass of: HP_0005926
notation: HP:0004272

Cupped metaphyses of hand bones
tree view: HP_0005923
has db xref: UMLS:C4025377
has exact synonym: Cupped metaphysis of hand bones
has exact synonym: Cupped wide portion of hand bones
has OBO namespace: human_phenotype
id: HP:0004273
type: Class
subclass of: HP_0005923
notation: HP:0004273

Deficient ossification of hand bones
tree view: HP_0010660
has db xref: UMLS:C4025376
has db xref: UMLS:C4280534
has OBO namespace: human_phenotype
has related synonym: Deficient maturation of hand bones
id: HP:0004274
type: Class
subclass of: HP_0010660
notation: HP:0004274

Duplication of hand bones
tree view: Abnormality of the hand
tree view: HP_0009142
has db xref: UMLS:C3276746
has exact synonym: Duplication of hand bones
has OBO namespace: human_phenotype
id: HP:0004275
type: Class
subclass of: Abnormality of the hand
subclass of: HP_0009142
notation: HP:0004275

Exostoses of hand bones
tree view: Abnormality of the hand
tree view: HP_0100777
IAO_0000115: Abnormal formation of new bone on the surface of a bone of the hand.
has db xref: UMLS:C4025375
has OBO namespace: human_phenotype
id: HP:0004276
type: Class
subclass of: Abnormality of the hand
subclass of: HP_0100777
notation: HP:0004276

Fractured hand bones
tree view: Abnormality of the hand
has db xref: SNOMEDCT_US:20511007
has db xref: UMLS:C0435632
has exact synonym: Broken hand bones
has exact synonym: Fractured hand bones
has OBO namespace: human_phenotype
id: HP:0004277
type: Class
subclass of: Abnormality of the hand
notation: HP:0004277

Synostosis involving bones of the hand
tree view: Abnormality of the hand
tree view: HP_0100238
IAO_0000115: An abnormal union between bones or parts of bones of the hand.
has db xref: UMLS:C4020831
has OBO namespace: human_phenotype
has related synonym: Fused hand bones
id: HP:0004278
type: Class
subclass of: Abnormality of the hand
subclass of: HP_0100238
notation: HP:0004278

Short palm
tree view: HP_0005927
tree view: HP_0100871
IAO_0000115: Short palm.
has alternative id: HP:0001165
has db xref: UMLS:C1843108
has exact synonym: Short palm
has OBO namespace: human_phenotype
has related synonym: Hypoplastic hands
has related synonym: Short hands
has related synonym: Short palms
id: HP:0004279
type: Class
comment: This term refers to a developmental finding resulting in short palms. This term is reserved for individuals with shortening of all four metacarpals 2-5. Individuals with fewer than four shortened metacarpals (in a eudactylous hand, the metacarpals of F2-5) should be coded as Metacarpal, short. See the entry for Hand, small for a discussion of this finding. "Short hand" should not be used as it is a bundle of two readily separable terms, Fingers, short (which, as noted above, can itself be a bundled term) and Palm, short.
subclass of: HP_0005927
subclass of: HP_0100871
notation: HP:0004279

Irregular ossification of hand bones
tree view: HP_0010660
has db xref: UMLS:C4025374
has OBO namespace: human_phenotype
has related synonym: Irregular maturation of hand bones
id: HP:0004280
type: Class
subclass of: HP_0010660
notation: HP:0004280

Irregular sclerosis of hand bones
tree view: Sclerosis of hand bone
has db xref: UMLS:C4025373
has exact synonym: Increased bone density in hand bones
has OBO namespace: human_phenotype
id: HP:0004281
type: Class
subclass of: Sclerosis of hand bone
notation: HP:0004281

HP_0004282
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009699
type: Class
deprecated: true
notation: HP:0004282

Narrow palm
tree view: HP_0100871
IAO_0000115: For children from birth to 4 years of age, the palm width is more than 2 SD below the mean; for children from 4 to 16 years of age the palm width is below the 5th centile; or, the width of the palm appears disproportionately narrow for its length.
has db xref: UMLS:C1857632
has exact synonym: Narrow hand
has exact synonym: Narrow palm
has OBO namespace: human_phenotype
has related synonym: Narrow hands
id: HP:0004283
type: Class
comment: Palm width is measured across the palm at the level of the MCPJ (radial aspect of the F2 MCPJ to the ulnar aspect of the F5 MCPJ). Norms are specified in [Hall et al., 2007]. Caution is advised for the subjective assessment as the breadth may be in the normal range with disproportionately increased length, which appears narrow. This finding may be associated with elongated/slender limbs in general, but that finding does not bear on the coding of this feature. Proximal narrowing may indicate small thenar or hypothenar eminences. This term replaces "narrow hands" as that term may leave the impression that it includes the thumb, which it does not.
subclass of: HP_0100871
notation: HP:0004283

Notched hand bones
tree view: HP_0005922
has db xref: UMLS:C4025372
has exact synonym: Notched hand bones
has OBO namespace: human_phenotype
id: HP:0004284
type: Class
subclass of: HP_0005922
notation: HP:0004284

Overmodelled hand bones
tree view: HP_0005922
has db xref: UMLS:C4025371
has OBO namespace: human_phenotype
id: HP:0004285
type: Class
subclass of: HP_0005922
notation: HP:0004285

Patchy sclerosis of hand bones
tree view: Irregular sclerosis of hand bones
has db xref: UMLS:C4025370
has exact synonym: Uneven increase in bone density in hand bones
has OBO namespace: human_phenotype
id: HP:0004286
type: Class
subclass of: Irregular sclerosis of hand bones
notation: HP:0004286

Pointed hand bones
tree view: HP_0005922
has db xref: UMLS:C4025369
has exact synonym: Pointed hand bones
has OBO namespace: human_phenotype
id: HP:0004287
type: Class
subclass of: HP_0005922
notation: HP:0004287

Pseudoepiphyses of hand bones
tree view: HP_0005924
tree view: HP_0010584
has db xref: UMLS:C4025368
has OBO namespace: human_phenotype
id: HP:0004288
type: Class
subclass of: HP_0005924
subclass of: HP_0010584
notation: HP:0004288

Sclerotic foci in hand bones
tree view: Irregular sclerosis of hand bones
has db xref: UMLS:C4025367
has OBO namespace: human_phenotype
id: HP:0004289
type: Class
subclass of: Irregular sclerosis of hand bones
notation: HP:0004289

Sclerosis of hand bones with transverse striations
tree view: Irregular sclerosis of hand bones
has db xref: UMLS:C4025366
has OBO namespace: human_phenotype
id: HP:0004290
type: Class
subclass of: Irregular sclerosis of hand bones
notation: HP:0004290

Stippled calcification of hand bones
tree view: Irregular ossification of hand bones
has db xref: UMLS:C4025365
has OBO namespace: human_phenotype
id: HP:0004291
type: Class
subclass of: Irregular ossification of hand bones
notation: HP:0004291

Undermodelled hand bones
tree view: HP_0005922
has db xref: UMLS:C4025364
has OBO namespace: human_phenotype
id: HP:0004292
type: Class
subclass of: HP_0005922
notation: HP:0004292

Synostosis of second metacarpal-trapezoid
tree view: HP_0009705
tree view: HP_0100328
IAO_0000115: Fusion of the second metacarpal-trapezoid.
has db xref: UMLS:C4021665
has exact synonym: Fusion of second metacarpal-trapezoid
has OBO namespace: human_phenotype
id: HP:0004293
type: Class
subclass of: HP_0009705
subclass of: HP_0100328
notation: HP:0004293

Subluxation of metacarpal phalangeal joints
tree view: HP_0011911
tree view: HP_0032153
IAO_0000115: A partial dislocation affecting some or all of the metacarpophalangeal joints.
has db xref: UMLS:C4025363
has exact synonym: Partial knuckle dislocation
has exact synonym: Subluxation of metacarpophalangeal joints
has OBO namespace: human_phenotype
id: HP:0004294
type: Class
subclass of: HP_0011911
subclass of: HP_0032153
notation: HP:0004294

Abnormality of the gastric mucosa
tree view: Abnormality of the stomach
IAO_0000115: An abnormality of the gastric mucous membrane.
created by: peter
creation date: 2008-02-20T11:12:00Z
has db xref: UMLS:C4025362
has exact synonym: Abnormality of the mucous membrane layer of stomach
has OBO namespace: human_phenotype
id: HP:0004295
type: Class
subclass of: Abnormality of the stomach
notation: HP:0004295

Abnormality of gastrointestinal vasculature
tree view: Abnormality of the vasculature
tree view: HP_0012718
created by: peter
creation date: 2008-02-20T11:24:00Z
has db xref: UMLS:C4025361
has exact synonym: Abnormality of GI blood vessels
has exact synonym: Abnormality of GI vasculature
has OBO namespace: human_phenotype
id: HP:0004296
type: Class
subclass of: Abnormality of the vasculature
subclass of: HP_0012718
notation: HP:0004296

Abnormality of the biliary system
tree view: Abnormality of the liver
IAO_0000115: An abnormality of the biliary system.
created by: peter
creation date: 2008-02-20T11:34:00Z
has db xref: UMLS:C0940767
has OBO namespace: human_phenotype
id: HP:0004297
type: Class
subclass of: Abnormality of the liver
notation: HP:0004297

Abnormality of the abdominal wall
tree view: HP_0025031
IAO_0000115: The presence of any abnormality affecting the abdominal wall.
created by: peter
creation date: 2008-02-20T11:40:00Z
has alternative id: HP:0001462
has db xref: UMLS:C4021664
has exact synonym: Abnormality of external features of the abdomen
has exact synonym: Abnormality of the abdominal wall
has OBO namespace: human_phenotype
id: HP:0004298
in subset: hposlim core
type: Class
subclass of: HP_0025031
notation: HP:0004298

Hernia of the abdominal wall
tree view: HP_0010866
tree view: HP_0100790
IAO_0000115: The presence of a hernia in the abdominal wall.
created by: peter
creation date: 2008-02-20T11:42:00Z
has db xref: Fyler:4414
has db xref: SNOMEDCT_US:128545000
has db xref: UMLS:C1442978
has exact synonym: Herniated abdominal wall
has OBO namespace: human_phenotype
id: HP:0004299
in subset: hposlim core
type: Class
comment: A hernia refers to a sac formed by the lining of the abdominal cavity (peritoneum). The sac can protrude through a hole or weak area in the abdominal fascia.
subclass of: HP_0010866
subclass of: HP_0100790
notation: HP:0004299

HP_0004300
IAO_0000231: IAO_0000227
IAO_0100001: Abnormality of the calf musculature
type: Class
deprecated: true
notation: HP:0004300

HP_0004301
IAO_0000231: IAO_0000227
IAO_0100001: Abnormality of the shoulder girdle musculature
type: Class
deprecated: true
notation: HP:0004301

Functional motor deficit
tree view: HP_0011804
created by: peter
creation date: 2008-02-20T11:52:00Z
has db xref: UMLS:C4025360
has exact synonym: Functional motor problems
has OBO namespace: human_phenotype
id: HP:0004302
type: Class
subclass of: HP_0011804
notation: HP:0004302

Abnormality of muscle fibers
tree view: HP_0011805
IAO_0000115: Any abnormality of the skeletal muscle cell. Muscle fibers are subdivided into two types. Type I fibers are fatigue-resistant and rich in oxidative enzymes (they stain light with the myosin ATPase reaction), and type II fibers are fast-contracting, fatigue-prone, and rich in glycolytic enzymes (these fibers stain darkly). Normal muscle tissue has a random distribution of type I and type II fibers.
created by: peter
creation date: 2008-02-20T12:04:00Z
has alternative id: HP:0003706
has alternative id: HP:0011806
has db xref: UMLS:C4021663
has exact synonym: Abnormal skeletal muscle fiber morphology
has OBO namespace: human_phenotype
id: HP:0004303
type: Class
comment: Skeletal muscle fibers are cylindrical multinucleated muscle cells. This feature is meant to group abnormalities appreciated by histology, electron microscopy, and similar methods that allow individual cells to be visualized.
subclass of: HP_0011805
notation: HP:0004303

HP_0004304
IAO_0000231: IAO_0000227
IAO_0100001: HP_0010548
type: Class
deprecated: true
notation: HP:0004304

Involuntary movements
tree view: HP_0100022
IAO_0000115: Involuntary contractions of muscle leading to involuntary movements of extremities, neck, trunk, or face.
created by: peter
creation date: 2008-02-20T12:18:00Z
has alternative id: HP:0007120
has db xref: SNOMEDCT_US:102542000
has db xref: UMLS:C0235086
has exact synonym: Involuntary movements
has exact synonym: Involuntary muscle contractions
has OBO namespace: human_phenotype
id: HP:0004305
type: Class
subclass of: HP_0100022
notation: HP:0004305

Abnormal endocardium morphology
tree view: Abnormal heart morphology
IAO_0000115: An abnormality of the endocardium.
created by: peter
creation date: 2008-02-20T01:23:00Z
has alternative id: HP:0005260
has db xref: UMLS:C4021662
has exact synonym: Abnormality of the endocardium
has exact synonym: Abnormality of the endomycoardium
has OBO namespace: human_phenotype
id: HP:0004306
type: Class
subclass of: Abnormal heart morphology
notation: HP:0004306

Abnormal anatomic location of the heart
tree view: Abnormal heart morphology
IAO_0000115: Thickening of the left ventricle wall with congenital onset.
created by: peter
creation date: 2008-02-20T01:23:00Z
has db xref: UMLS:C4025359
has OBO namespace: human_phenotype
id: HP:0004307
type: Class
subclass of: Abnormal heart morphology
notation: HP:0004307

Ventricular arrhythmia
tree view: HP_0011675
created by: peter
creation date: 2008-02-20T01:28:00Z
has db xref: SNOMEDCT_US:44103008
has db xref: UMLS:C0085612
has exact synonym: Ventricular arrhythmias
has OBO namespace: human_phenotype
id: HP:0004308
type: Class
subclass of: HP_0011675
notation: HP:0004308

Ventricular preexcitation
tree view: Ventricular arrhythmia
IAO_0000115: An abnormality in which the cardiac ventricles depolarize too early as a result of an abnormality of cardiac conduction pathways such as an accessory pathway.
created by: peter
creation date: 2008-02-20T01:29:00Z
has alternative id: HP:0006676
has db xref: SNOMEDCT_US:195060002
has db xref: UMLS:C0559106
has exact synonym: Pre-excitation syndrome
has exact synonym: Preexcitation
has exact synonym: Ventricular pre-excitation
has OBO namespace: human_phenotype
id: HP:0004309
type: Class
comment: Pre-excitation syndromes are generally caused by accelerated conduction along an accessory pathway, but in some cases there is accelerated conduction through the normal AV node.
subclass of: Ventricular arrhythmia
notation: HP:0004309

HP_0004310
IAO_0000231: IAO_0000227
IAO_0100001: Abnormal macrophage morphology
type: Class
deprecated: true
notation: HP:0004310

Abnormal macrophage morphology
tree view: HP_0010974
IAO_0000115: An abnormality of macrophages.
created by: peter
creation date: 2008-02-20T03:14:00Z
has alternative id: HP:0004310
has db xref: UMLS:C4021661
has exact synonym: Abnormality of histiocytes
has exact synonym: Abnormality of macrophages
has OBO namespace: human_phenotype
id: HP:0004311
type: Class
subclass of: HP_0010974
notation: HP:0004311

Abnormality of reticulocytes
tree view: Abnormal erythrocyte morphology
IAO_0000115: A reticulocyte abnormality.
created by: peter
creation date: 2008-02-20T03:19:00Z
has db xref: UMLS:C4025358
has OBO namespace: human_phenotype
id: HP:0004312
type: Class
comment: Reticulocytes are immature erythrocytes that show a basophilic reticulum under vital staining.
subclass of: Abnormal erythrocyte morphology
notation: HP:0004312

Decreased antibody level in blood
tree view: HP_0010701
IAO_0000115: An abnormally decreased level of immunoglobulin in blood.
created by: peter
creation date: 2008-02-20T03:34:00Z
has alternative id: HP:0010703
has db xref: MSH:D000361
has db xref: SNOMEDCT_US:119250001
has db xref: UMLS:C0086438
has db xref: UMLS:C4048270
has exact synonym: Decreased immunoglobulin level
has exact synonym: Decreased serum immunoglobulin
has exact synonym: Hypogammaglobulinemia
has exact synonym: Immunoglobulin deficiency
has exact synonym: Reduced immunoglobulin levels
has OBO namespace: human_phenotype
id: HP:0004313
type: Class
comment: In humans, immunoglobulins comprise the five antibody isotypes IgA, IgD, IgE, IgG and IgM.
subclass of: HP_0010701
notation: HP:0004313

HP_0004314
IAO_0000231: IAO_0000227
IAO_0100001: HP_0010702
type: Class
deprecated: true
notation: HP:0004314

Decreased circulating IgG level
tree view: Decreased antibody level in blood
tree view: HP_0410242
IAO_0000115: An abnormally decreased level of immunoglobulin G (IgG) in blood.
created by: peter
creation date: 2008-02-20T03:43:00Z
has alternative id: HP:0003289
has alternative id: HP:0003294
has alternative id: HP:0005394
has alternative id: HP:0008325
has alternative id: HP:0008340
has db xref: MSH:D017099
has db xref: SNOMEDCT_US:123785006
has db xref: SNOMEDCT_US:190981001
has db xref: UMLS:C0162539
has exact synonym: Decreased IgG level
has exact synonym: Decreased gamma-globin expression
has exact synonym: Decreased immunoglobulin G
has exact synonym: Decreased serum IgG
has exact synonym: IgG deficiency
has exact synonym: Reduced IgG levels
has OBO namespace: human_phenotype
id: HP:0004315
type: Class
subclass of: Decreased antibody level in blood
subclass of: HP_0410242
notation: HP:0004315

HP_0004316
IAO_0000231: IAO_0000227
IAO_0100001: Increased circulating cortisol level
type: Class
deprecated: true
notation: HP:0004316

HP_0004317
IAO_0000231: IAO_0000227
IAO_0100001: HP_0008163
type: Class
deprecated: true
notation: HP:0004317

HP_0004318
IAO_0000231: IAO_0000227
IAO_0100001: Hyperaldosteronism
type: Class
deprecated: true
notation: HP:0004318

Decreased circulating aldosterone level
tree view: HP_0008207
IAO_0000115: Abnormally reduced levels of aldosterone.
created by: peter
creation date: 2008-02-25T10:45:00Z
has alternative id: HP:0000355
has alternative id: HP:0002924
has alternative id: HP:0008184
has alternative id: HP:0008190
has db xref: MSH:D006994
has db xref: SNOMEDCT_US:60086000
has db xref: UMLS:C0020595
has db xref: UMLS:C0857899
has db xref: UMLS:C1846226
has exact synonym: Decreased aldosterone
has exact synonym: Decreased aldosterone production
has exact synonym: Decreased serum aldosterone
has exact synonym: Hypoaldosteronism
has exact synonym: Low blood aldosterone level
has exact synonym: Mineralocorticoid insufficiency
has OBO namespace: human_phenotype
id: HP:0004319
type: Class
comment: Aldosterone is a hormone that is produce by the adrenal cortex and that acts on the distal tubules and collecting ducts to favor retention of sodium excretion of potassium, and increased water retention, thereby tending to increase blood pressure. Aldosterone is sometimes called a mineralocorticoid because of its influence on sodium homeostasis.
subclass of: HP_0008207
notation: HP:0004319

Vaginal fistula
tree view: Abnormal vagina morphology
tree view: HP_0100589
IAO_0000115: The presence of a fistula of the vagina.
created by: peter
creation date: 2008-02-25T12:17:00Z
has db xref: MSH:D014624
has db xref: SNOMEDCT_US:45135002
has db xref: UMLS:C0042253
has OBO namespace: human_phenotype
id: HP:0004320
type: Class
subclass of: Abnormal vagina morphology
subclass of: HP_0100589
notation: HP:0004320

Bladder fistula
tree view: HP_0025487
tree view: HP_0100589
IAO_0000115: The presence of a fistula connecting the urinary bladder to another organ or the skin. The fistula can involve the bowel, the vagina, or rarely, the skin.
created by: peter
creation date: 2008-02-25T12:32:00Z
has db xref: MSH:D001747
has db xref: SNOMEDCT_US:68666001
has db xref: UMLS:C0005690
has OBO namespace: human_phenotype
id: HP:0004321
type: Class
subclass of: HP_0025487
subclass of: HP_0100589
notation: HP:0004321

Short stature
tree view: Abnormality of body height
tree view: Growth delay
IAO_0000115: A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
created by: peter
creation date: 2008-02-27T03:19:00Z
has alternative id: HP:0001509
has alternative id: HP:0003501
has alternative id: HP:0003507
has alternative id: HP:0003512
has alternative id: HP:0003518
has alternative id: HP:0003519
has alternative id: HP:0008871
has alternative id: HP:0008882
has alternative id: HP:0008888
has alternative id: HP:0008913
has db xref: SNOMEDCT_US:237836003
has db xref: UMLS:C0349588
has exact synonym: Decreased body height
has exact synonym: Height less than 3rd percentile
has exact synonym: Short stature
has exact synonym: Small stature
has exact synonym: Stature below 3rd percentile
has OBO namespace: human_phenotype
id: HP:0004322
type: Class
subclass of: Abnormality of body height
subclass of: Growth delay
notation: HP:0004322

Abnormality of body weight
tree view: Growth abnormality
IAO_0000115: An abnormal increase or decrease of weight or an abnormal distribution of mass in the body.
created by: peter
creation date: 2008-02-27T03:21:00Z
has alternative id: HP:0010718
has db xref: UMLS:C0878621
has db xref: UMLS:C4025357
has exact synonym: Abnormality of body weight
has OBO namespace: human_phenotype
has related synonym: Abnormality of habitus
id: HP:0004323
type: Class
subclass of: Growth abnormality
notation: HP:0004323

Increased body weight
tree view: Abnormality of body weight
IAO_0000115: Abnormally increased body weight.
created by: peter
creation date: 2008-02-27T03:21:00Z
has alternative id: HP:0045083
has db xref: MSH:D015430
has db xref: SNOMEDCT_US:161831008
has db xref: SNOMEDCT_US:262286000
has db xref: SNOMEDCT_US:8943002
has db xref: UMLS:C0043094
has exact synonym: Increased body weight
has OBO namespace: human_phenotype
has related synonym: Weight gain
id: HP:0004324
type: Class
subclass of: Abnormality of body weight
notation: HP:0004324

Decreased body weight
tree view: Abnormality of body weight
created by: peter
creation date: 2008-02-27T03:22:00Z
has alternative id: HP:0001823
has alternative id: HP:0001826
has db xref: MSH:D013851
has db xref: MSH:D015431
has db xref: SNOMEDCT_US:161832001
has db xref: SNOMEDCT_US:248342006
has db xref: SNOMEDCT_US:262285001
has db xref: SNOMEDCT_US:89362005
has db xref: UMLS:C0041667
has db xref: UMLS:C1262477
has db xref: UMLS:C1844806
has exact synonym: Decreased body weight
has exact synonym: Decreased weight
has exact synonym: Low body weight
has exact synonym: Low weight
has exact synonym: Weight less than 3rd percentile
has OBO namespace: human_phenotype
id: HP:0004325
type: Class
subclass of: Abnormality of body weight
notation: HP:0004325

Cachexia
tree view: Weight loss
IAO_0000115: Severe weight loss, wasting of muscle, loss of appetite, and general debility related to a chronic disease.
created by: peter
creation date: 2008-02-27T03:23:00Z
has db xref: MSH:D002100
has db xref: SNOMEDCT_US:238108007
has db xref: SNOMEDCT_US:285384003
has db xref: UMLS:C0006625
has exact synonym: Wasting syndrome
has OBO namespace: human_phenotype
id: HP:0004326
type: Class
subclass of: Weight loss
notation: HP:0004326

Abnormal vitreous humor morphology
tree view: Abnormal posterior eye segment morphology
IAO_0000115: Any structural anomaly of the vitreous body.
created by: peter
creation date: 2008-02-27T04:20:00Z
has db xref: UMLS:C4025356
has OBO namespace: human_phenotype
id: HP:0004327
in subset: hposlim core
type: Class
comment: The vitreous humor is the clear gel that fills the space between the lens and the retina.
subclass of: Abnormal posterior eye segment morphology
notation: HP:0004327

Abnormal anterior eye segment morphology
tree view: HP_0012372
IAO_0000115: An abnormality of the anterior segment of the eyeball (which comprises the structures in front of the vitreous humour: the cornea, iris, ciliary body, and lens).
created by: peter
creation date: 2008-02-27T04:23:00Z
has db xref: UMLS:C4025355
has exact synonym: Abnormal anterior segment morphology
has exact synonym: Abnormality of the anterior segment of the eye
has exact synonym: Abnormality of the anterior segment of the eyeball
has exact synonym: Abnormality of the anterior segment of the globe
has OBO namespace: human_phenotype
id: HP:0004328
type: Class
comment: The anterior segment comprises the structures in front of the vitreous humour: the cornea, iris, ciliary body, and lens.
subclass of: HP_0012372
notation: HP:0004328

Abnormal posterior eye segment morphology
tree view: HP_0012372
created by: peter
creation date: 2008-02-27T04:25:00Z
has db xref: UMLS:C4025354
has exact synonym: Abnormal morphology of the posterior segment of the globe
has exact synonym: Abnormality of the posterior segment of the eye
has exact synonym: Abnormality of the posterior segment of the eyeball
has exact synonym: Abnormality of the posterior segment of the globe
has OBO namespace: human_phenotype
id: HP:0004329
type: Class
comment: The posterior segment comprises the anterior hyaloid membrane and all of the optical structures behind it: the vitreous humor, retina, choroid, and optic nerve.
subclass of: HP_0012372
notation: HP:0004329

Increased skull ossification
tree view: Abnormality of skull ossification
tree view: HP_0011001
IAO_0000115: An increase in the magnitude or amount of ossification of the skull.
created by: peter
creation date: 2008-02-28T11:54:00Z
has db xref: SNOMEDCT_US:17401000119104
has db xref: UMLS:C0020496
has db xref: UMLS:C4072850
has db xref: UMLS:C4072851
has exact synonym: Hyperossification of skull
has exact synonym: Hyperostosis of skull
has exact synonym: Sclerosis of bones of skull
has exact synonym: Sclerosis of skull
has OBO namespace: human_phenotype
has related synonym: Increased Mineralization of skull
has related synonym: Increased calcification of skull
id: HP:0004330
in subset: hposlim core
type: Class
subclass of: Abnormality of skull ossification
subclass of: HP_0011001
notation: HP:0004330

Decreased skull ossification
tree view: Abnormality of skull ossification
tree view: HP_0011849
IAO_0000115: A reduction in the magnitude or amount of ossification of the skull.
created by: peter
creation date: 2008-02-28T11:54:00Z
has alternative id: HP:0003780
has db xref: SNOMEDCT_US:253980008
has db xref: UMLS:C0432073
has db xref: UMLS:C4280533
has exact synonym: Decreased bone formation of skull
has exact synonym: Deficient skull ossification
has exact synonym: Hypoossification of skull
has exact synonym: Ossification defect of skull
has exact synonym: Poorly mineralized skull
has exact synonym: Poorly ossified skull
has exact synonym: Poorly ossified skull bones
has OBO namespace: human_phenotype
has related synonym: Decreased calcification of skull
has related synonym: Decreased mineralization of skull
id: HP:0004331
in subset: hposlim core
type: Class
subclass of: Abnormality of skull ossification
subclass of: HP_0011849
notation: HP:0004331

Abnormal lymphocyte morphology
tree view: Abnormal leukocyte morphology
IAO_0000115: An abnormality of lymphocytes.
created by: peter
creation date: 2008-02-28T06:46:00Z
has alternative id: HP:0001887
has alternative id: HP:0012140
has db xref: SNOMEDCT_US:250284007
has db xref: UMLS:C0427546
has exact synonym: Abnormal lymphocytes
has exact synonym: Abnormality of cells of the lymphoid lineage
has OBO namespace: human_phenotype
id: HP:0004332
type: Class
comment: A lymphocyte refers to a cell of the B cell, T cell, or natural killer cell lineage.
subclass of: Abnormal leukocyte morphology
notation: HP:0004332

Bone-marrow foam cells
tree view: Abnormal macrophage morphology
IAO_0000115: The presence of foam cells in the bone marrow, generally demonstrated by bone-marrow aspiration or biopsy. Foam cells have a vacuolated appearance due to the presence of complex lipid deposits, giving them a foamy or soap-suds appearance.
created by: peter
creation date: 2008-02-28T06:48:00Z
has alternative id: HP:0001979
has db xref: UMLS:C1856560
has exact synonym: Bone marrow foam cells
has exact synonym: Large vacuolated foam cells ('NP cells') on bone marrow biopsy
has exact synonym: Large vacuolated foam cells on bone marrow biopsy
has OBO namespace: human_phenotype
id: HP:0004333
type: Class
subclass of: Abnormal macrophage morphology
notation: HP:0004333

Dermal atrophy
tree view: HP_0008065
IAO_0000115: Partial or complete wasting (atrophy) of the skin.
created by: peter
creation date: 2008-03-04T06:24:00Z
has alternative id: HP:0000985
has alternative id: HP:0001077
has db xref: MEDDRA:10040799
has db xref: SNOMEDCT_US:399979006
has db xref: SNOMEDCT_US:400190005
has db xref: UMLS:C0151514
has exact synonym: Atrophic skin
has exact synonym: Skin atrophy
has exact synonym: Skin degeneration
has OBO namespace: human_phenotype
id: HP:0004334
in subset: hposlim core
type: Class
subclass of: HP_0008065
notation: HP:0004334

HP_0004335
IAO_0000231: IAO_0000227
IAO_0100001: HP_0011400
type: Class
deprecated: true
notation: HP:0004335

Myelin outfoldings
tree view: HP_0030173
IAO_0000115: The presence of excessive redundant myelin in the peripheral nerve sheath.
created by: peter
creation date: 2008-03-04T06:41:00Z
has alternative id: HP:0003433
has alternative id: HP:0006898
has alternative id: HP:0007290
has db xref: UMLS:C1843168
has exact synonym: Excessive focal folding of myelin sheaths
has exact synonym: Irregular myelin foldings
has OBO namespace: human_phenotype
id: HP:0004336
type: Class
comment: This finding can be demonstrated by nerve biopsy (e.g., sural nerve biopsy).
subclass of: HP_0030173
notation: HP:0004336

Abnormality of amino acid metabolism
tree view: HP_0032245
IAO_0000115: Abnormality of an amino acid metabolic process.
created by: peter
creation date: 2008-03-08T07:53:00Z
has db xref: UMLS:C1328440
has OBO namespace: human_phenotype
has related synonym: Amino acid levels abnormal
id: HP:0004337
type: Class
subclass of: HP_0032245
notation: HP:0004337

Abnormal circulating aromatic amino acid concentration
tree view: Abnormality of serum amino acid level
IAO_0000115: Any deviation from the normal concentration of a aromatic amino acid in the blood circulation.
created by: peter
creation date: 2008-03-08T07:55:00Z
has db xref: UMLS:C4025352
has exact synonym: Abnormality of aromatic amino acid family metabolism
has OBO namespace: human_phenotype
id: HP:0004338
type: Class
subclass of: Abnormality of serum amino acid level
notation: HP:0004338

Abnormal circulating sulfur amino acid concentration
tree view: Abnormality of serum amino acid level
IAO_0000115: Any deviation from the normal concentration of a sulfur amino acid in the blood circulation.
created by: peter
creation date: 2008-03-08T08:01:00Z
has db xref: UMLS:C4021660
has exact synonym: Abnormality of sulfur-containing amino acids
has OBO namespace: human_phenotype
id: HP:0004339
type: Class
comment: Cysteine and methionine contain a sulfur atom.
subclass of: Abnormality of serum amino acid level
notation: HP:0004339

Abnormality of vitamin B metabolism
tree view: HP_0100508
created by: peter
creation date: 2008-03-08T08:08:00Z
has db xref: UMLS:C4021659
has exact synonym: Abnormality of B-vitamin metabolism
has OBO namespace: human_phenotype
id: HP:0004340
type: Class
subclass of: HP_0100508
notation: HP:0004340

Abnormality of vitamin B12 metabolism
tree view: Abnormality of vitamin B metabolism
created by: peter
creation date: 2008-03-08T08:09:00Z
has db xref: UMLS:C4021658
has exact synonym: Abnormality of the vitamin B12 metabolism
has OBO namespace: human_phenotype
id: HP:0004341
type: Class
subclass of: Abnormality of vitamin B metabolism
notation: HP:0004341

Abnormality of galactoside metabolism
tree view: Abnormality of glycoside metabolism
IAO_0000115: Abnormality of galactoside metabolism. A galactoside is a glycoside (a suger moiety bound to some other moiety) containing galactose.
created by: peter
creation date: 2008-03-08T08:33:00Z
has db xref: UMLS:C4025351
has OBO namespace: human_phenotype
id: HP:0004342
type: Class
subclass of: Abnormality of glycoside metabolism
notation: HP:0004342

Abnormality of glycosphingolipid metabolism
tree view: HP_0010969
IAO_0000115: An abnormality of glycosphingolipid metabolism.
created by: peter
creation date: 2008-03-08T08:35:00Z
has db xref: UMLS:C4025350
has OBO namespace: human_phenotype
id: HP:0004343
type: Class
comment: Glycosphingolipids are a subtype of glycolipids containing the amino alcohol sphingosine. A glycosphingolipid is a carbohydrate-containing derivative of a sphingoid or ceramide. It is understood that the carbohydrate residue is attached by a glycosidic linkage to O-1 of the sphingoid.
subclass of: HP_0010969
notation: HP:0004343

Abnormality of cerebrosidase metabolism
tree view: Abnormality of glycosphingolipid metabolism
created by: peter
creation date: 2008-03-08T08:36:00Z
has db xref: UMLS:C4025349
has OBO namespace: human_phenotype
id: HP:0004344
type: Class
subclass of: Abnormality of glycosphingolipid metabolism
notation: HP:0004344

Ganglioside accumulation
tree view: Abnormality of glycosphingolipid metabolism
IAO_0000115: Defects in the lysosomal glycosidases or specific co-activators, result in accumulation of the substrates, such as glycosphingolipids, including gangliosides in GM1 gangliosidosis (Tay-Sachs disease) and GM2 gangliosidosis (Sandhoff disease).
created by: peter
creation date: 2008-03-11T07:50:00Z
has db xref: UMLS:C4025348
has OBO namespace: human_phenotype
id: HP:0004345
type: Class
comment: A ganglioside is composed of a glycosphingolipid with one or more sialic acids linked on the sugar chain.
subclass of: Abnormality of glycosphingolipid metabolism
notation: HP:0004345

HP_0004346
IAO_0000231: IAO_0000227
IAO_0100001: Tachypnea
type: Class
deprecated: true
notation: HP:0004346

Weakness of muscles of respiration
tree view: Muscle weakness
tree view: Functional respiratory abnormality
IAO_0000115: Reduced function of the muscles required to generate subatmospheric pressure in the thoracic cavity during breathing: the diaphragm, the external intercostal and the interchondral part of the internal intercostal muscles.
created by: peter
creation date: 2008-03-11T08:03:00Z
has db xref: UMLS:C4025347
has OBO namespace: human_phenotype
id: HP:0004347
type: Class
subclass of: Muscle weakness
subclass of: Functional respiratory abnormality
notation: HP:0004347

Abnormality of bone mineral density
tree view: HP_0011849
IAO_0000115: This term applies to all changes in bone mineral density which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone. Changes may affect all bones of the organism, just certain bones or only parts of bones and include decreased mineralisation as may be seen in osteoporosis or increased mineralisation and or ossification as in osteopetrosis, exostoses or any kind of atopic calicfications of different origin and distribution. The overall amount of mineralization of the bone-organ can be measured as the amount of matter per cubic centimeter of bones, usually measured by densitometry of the lumbar spine or hip. The measurements are usually reported as g/cm3 or as a Z-score (the number of standard deviations above or below the mean for the patient's age and sex). Note that measurement with this method does not reflect local changes in other bones, and as such might not be correct with regard the hole bone-organ.
created by: peter
creation date: 2008-03-11T08:10:00Z
has db xref: UMLS:C4021657
has exact synonym: Abnormality of bone mineralisation and ossification
has OBO namespace: human_phenotype
id: HP:0004348
type: Class
subclass of: HP_0011849
notation: HP:0004348

Reduced bone mineral density
tree view: Abnormality of bone mineral density
IAO_0000115: A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones.
created by: peter
creation date: 2008-03-11T08:10:00Z
has db xref: UMLS:C2674432
has exact synonym: Decreased bone mineral density
has exact synonym: Decreased bone mineral density Z score
has exact synonym: Low solidness and mass of the bones
has OBO namespace: human_phenotype
id: HP:0004349
type: Class
subclass of: Abnormality of bone mineral density
notation: HP:0004349

HP_0004350
IAO_0000231: IAO_0000227
IAO_0100001: HP_0011001
type: Class
deprecated: true
notation: HP:0004350

HP_0004351
IAO_0000231: IAO_0000227
IAO_0100001: HP_0011675
type: Class
deprecated: true
notation: HP:0004351

Abnormal circulating purine concentration
tree view: HP_0010932
IAO_0000115: Any deviation from the normal concentration of a purine in the blood circulation.
created by: peter
creation date: 2008-03-17T01:04:00Z
has db xref: UMLS:C4025346
has exact synonym: Abnormal circulating purine level
has OBO namespace: human_phenotype
id: HP:0004352
type: Class
comment: Purines are nitrogenous bases including the two nucleotide bases deoxyadenosine and deoxyguanosine.
subclass of: HP_0010932
notation: HP:0004352

Abnormal circulating pyrimidine concentration
tree view: HP_0010932
IAO_0000115: Any deviation from the normal concentration of a pyrimidine in the blood circulation.
created by: peter
creation date: 2008-03-17T01:05:00Z
has db xref: UMLS:C4025345
has OBO namespace: human_phenotype
id: HP:0004353
type: Class
subclass of: HP_0010932
notation: HP:0004353

Abnormal circulating carboxylic acid concentration
tree view: HP_0032180
IAO_0000115: Any deviation from the normal concentration of a carboxylic acid in the blood circulation.
created by: peter
creation date: 2008-03-17T01:11:00Z
has db xref: UMLS:C4025344
has OBO namespace: human_phenotype
id: HP:0004354
type: Class
comment: Carboxylic acid refers to an organic compound that contains a carboxyl group (-COOH).
subclass of: HP_0032180
notation: HP:0004354

obsolete Abnormality of proteoglycan metabolism
IAO_0000231: IAO_0000227
IAO_0100001: Abnormality of metabolism/homeostasis
IAO_0100001: HP:0001939
creation date: 2008-03-17T01:12:00Z
has OBO namespace: human_phenotype
id: HP:0004355
type: Class
deprecated: true
notation: HP:0004355

Abnormality of lysosomal metabolism
tree view: HP_0011017
created by: peter
creation date: 2008-03-17T02:40:00Z
has db xref: UMLS:C4025342
has OBO namespace: human_phenotype
id: HP:0004356
type: Class
comment: A major lysosomal function is the breakdown and recycling of macromolecules and organelles into basic precursors.
subclass of: HP_0011017
notation: HP:0004356

Abnormal circulating leucine concentration
tree view: HP_0010892
IAO_0000115: Any deviation from the normal circulation of leucine in the blood circulation.
created by: peter
creation date: 2008-03-17T03:02:00Z
has db xref: UMLS:C4025341
has OBO namespace: human_phenotype
id: HP:0004357
type: Class
subclass of: HP_0010892
notation: HP:0004357

Abnormality of superoxide metabolism
tree view: HP_0012379
created by: peter
creation date: 2008-03-17T03:22:00Z
has db xref: UMLS:C4025340
has OBO namespace: human_phenotype
id: HP:0004358
type: Class
comment: NADPH oxidase catalyzes the production of superoxide, which in turn can react to form hydrogen peroxide, HOCl, and hydroxyl radical. Together, these oxygen-derived species participate in bacterial killing.
subclass of: HP_0012379
notation: HP:0004358

Abnormal circulating fatty-acid concentration
tree view: Abnormal circulating lipid concentration
IAO_0000115: A deviation from the normal concentration of a fatty acid in the blood circulation.
created by: peter
creation date: 2008-03-17T03:28:00Z
has db xref: UMLS:C4020830
has db xref: UMLS:C4021656
has exact synonym: Abnormality of fatty acid metabolism
has OBO namespace: human_phenotype
has related synonym: Fatty acids abnormal
id: HP:0004359
type: Class
comment: A fatty acid is an aliphatic monocarboxylic acid derived from or contained in esterified form. Natural fatty acids commonly have a chain of 4 to 28 carbons (usually unbranched and even-numbered), which may be saturated or unsaturated. R-COOH. Fatty acids are usually derived from triglycerides or phospholipids.
subclass of: Abnormal circulating lipid concentration
notation: HP:0004359

Abnormality of acid-base homeostasis
tree view: HP_0012337
IAO_0000115: An abnormality of the balance or maintenance of the balance of acids and bases in bodily fluids, resulting in an abnormal pH.
created by: peter
creation date: 2008-03-17T03:35:00Z
has db xref: MSH:D000137
has db xref: UMLS:C0001118
has OBO namespace: human_phenotype
has related synonym: Acid base imbalance
id: HP:0004360
type: Class
subclass of: HP_0012337
notation: HP:0004360

Abnormality of circulating leptin level
tree view: Abnormal circulating hormone level
IAO_0000115: An abnormal concentration of leptin in the blood.
created by: peter
creation date: 2008-03-17T03:37:00Z
has db xref: UMLS:C4025339
has OBO namespace: human_phenotype
id: HP:0004361
type: Class
subclass of: Abnormal circulating hormone level
notation: HP:0004361

Abnormality of enteric ganglion morphology
tree view: HP_0025028
IAO_0000115: An abnormality of the enteric nervous system, which comprises two types of ganglia, the myenteric (Auerbach's) and submucosal (Meissner's) plexuses. The enteric nervous system functions to control gut movement, fluid exchange between the gut and its lumen, and local blood flow.
created by: peter
creation date: 2008-03-17T03:40:00Z
has alternative id: HP:0002596
has alternative id: HP:0003283
has db xref: UMLS:C4025338
has OBO namespace: human_phenotype
has related synonym: Abnormality of the enteric ganglia
id: HP:0004362
type: Class
subclass of: HP_0025028
notation: HP:0004362

Abnormal circulating calcium concentration
tree view: HP_0010927
IAO_0000115: Any deviation from the normal concentration of calcium in the blood circulation.
created by: peter
creation date: 2008-03-17T04:15:00Z
has alternative id: HP:0040077
has exact synonym: Abnormal blood calcium concentration
has exact synonym: Abnormal blood calcium levels
has exact synonym: Abnormal circulating Ca concentration
has exact synonym: Abnormal circulating Ca2+ concentration
has OBO namespace: human_phenotype
id: HP:0004363
type: Class
subclass of: HP_0010927
notation: HP:0004363

Abnormal circulating nitrogen compound concentration
tree view: HP_0032180
IAO_0000115: Any deviation from the normal concentration of a nitrogen compound in the blood circulation.
created by: peter
creation date: 2008-03-17T04:51:00Z
has db xref: UMLS:C4025336
has OBO namespace: human_phenotype
id: HP:0004364
type: Class
comment: Ammonia (NH3), one of the most clinically important nitrogen compounds in human metabolism, is a substance containing nitrogen resulting from the catabolism of protein. It is converted to the less toxic substance urea prior to excretion in urine.
subclass of: HP_0032180
notation: HP:0004364

Abnormal circulating tryptophan concentration
tree view: Abnormal circulating aromatic amino acid concentration
IAO_0000115: Any deviation from the normal concentration of tryptophan in the blood circulation.
created by: peter
creation date: 2008-03-17T04:55:00Z
has db xref: UMLS:C4025335
has exact synonym: Abnormality of tryptophan metabolism
has OBO namespace: human_phenotype
id: HP:0004365
type: Class
subclass of: Abnormal circulating aromatic amino acid concentration
notation: HP:0004365

Abnormality of glycolysis
tree view: HP_0011013
IAO_0000115: An abnormality of glycolysis.
created by: peter
creation date: 2008-03-17T05:00:00Z
has db xref: UMLS:C4025334
has OBO namespace: human_phenotype
id: HP:0004366
type: Class
subclass of: HP_0011013
notation: HP:0004366

obsolete Abnormality of glycoprotein metabolism
IAO_0000231: IAO_0000227
IAO_0100001: Abnormality of metabolism/homeostasis
IAO_0100001: HP:0001939
has OBO namespace: human_phenotype
id: HP:0004367
type: Class
deprecated: true
notation: HP:0004367

Increased purine level
tree view: Abnormal circulating purine concentration
created by: peter
creation date: 2008-03-18T06:31:00Z
has db xref: UMLS:C4025332
has exact synonym: Increased purine levels
has OBO namespace: human_phenotype
id: HP:0004368
type: Class
subclass of: Abnormal circulating purine concentration
notation: HP:0004368

Decreased purine level
tree view: Abnormal circulating purine concentration
created by: peter
creation date: 2008-03-18T06:32:00Z
has db xref: UMLS:C4025331
has exact synonym: Decreased purine levels
has OBO namespace: human_phenotype
id: HP:0004369
type: Class
subclass of: Abnormal circulating purine concentration
notation: HP:0004369

Abnormality of temperature regulation
tree view: HP_0012337
IAO_0000115: An abnormality of temperature homeostasis.
created by: peter
creation date: 2008-03-18T06:34:00Z
has db xref: MSH:D001832
has db xref: UMLS:C0005904
has db xref: UMLS:C1832160
has exact synonym: Abnormality of temperature regulation
has exact synonym: Poor temperature regulation
has OBO namespace: human_phenotype
has related synonym: Body temperature changes
id: HP:0004370
type: Class
subclass of: HP_0012337
notation: HP:0004370

Abnormality of glycosaminoglycan metabolism
tree view: HP_0011017
IAO_0000115: Abnormality of glycosaminoglycan metabolism.
created by: peter
creation date: 2008-03-18T06:36:00Z
has db xref: UMLS:C4025330
has OBO namespace: human_phenotype
id: HP:0004371
type: Class
comment: A glycosaminoglycan is any polysaccharide containing a substantial proportion of aminomonosaccharide residues. Glycosaminoglycan (GAG) are long unbranched polysaccharides consisting of a repeating disaccharide unit. Among the most common GAGs are chondroitin sulfate, dermatan sulfate, chondroitin sulfate, keratan sulfate, heparan sulfate, and hyaluronan.
subclass of: HP_0011017
notation: HP:0004371

Reduced consciousness/confusion
tree view: HP_0011446
created by: peter
creation date: 2008-03-18T07:12:00Z
has db xref: SNOMEDCT_US:3006004
has db xref: UMLS:C0234428
has exact synonym: Disturbances of consciousness
has exact synonym: Lowered consciousness
has exact synonym: Reduced consciousness/confusion
has OBO namespace: human_phenotype
id: HP:0004372
type: Class
subclass of: HP_0011446
notation: HP:0004372

Focal dystonia
tree view: Dystonia
IAO_0000115: A type of dystonia that is localized to a specific part of the body.
created by: peter
creation date: 2008-03-18T07:33:00Z
has alternative id: HP:0007140
has db xref: MSH:D020821
has db xref: SNOMEDCT_US:445006008
has db xref: UMLS:C0743332
has OBO namespace: human_phenotype
id: HP:0004373
type: Class
subclass of: Dystonia
notation: HP:0004373

Hemiplegia/hemiparesis
tree view: HP_0010549
IAO_0000115: Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a severe or complete loss of strength, whereas hemiparesis refers to a relatively mild loss of strength.
created by: peter
creation date: 2008-03-18T07:35:00Z
has db xref: UMLS:C0375206
has exact synonym: Paralysis or weakness of one side of body
has OBO namespace: human_phenotype
id: HP:0004374
type: Class
subclass of: HP_0010549
notation: HP:0004374

Neoplasm of the nervous system
tree view: HP_0011793
tree view: HP_0012639
IAO_0000115: A tumor (abnormal growth of tissue) of the nervous system.
created by: peter
creation date: 2008-03-18T07:38:00Z
has db xref: MSH:D009423
has db xref: NCIT:C3262
has db xref: SNOMEDCT_US:126950007
has db xref: UMLS:C0027766
has exact synonym: Tumor of the nervous system
has OBO namespace: human_phenotype
has related synonym: Neoplasia of the nervous system
has related synonym: Nervous system cancer
id: HP:0004375
type: Class
subclass of: HP_0011793
subclass of: HP_0012639
notation: HP:0004375

Neuroblastic tumors
tree view: HP_0100836
created by: peter
creation date: 2008-03-18T07:39:00Z
has db xref: UMLS:C1334953
has OBO namespace: human_phenotype
id: HP:0004376
type: Class
comment: Along with neuroblastomas, ganglioneuromas and ganglioneuroblastomas are collectively known as neuroblastic tumors.
subclass of: HP_0100836
notation: HP:0004376

Hematological neoplasm
tree view: Abnormality of blood and blood-forming tissues
tree view: HP_0011793
IAO_0000115: Neoplasms located in the blood and blood-forming tissue (the bone marrow and lymphatic tissue).
created by: peter
creation date: 2008-03-18T07:44:00Z
has broad synonym: Blood tumor
has db xref: MSH:D019337
has db xref: SNOMEDCT_US:129154003
has db xref: SNOMEDCT_US:269475001
has db xref: UMLS:C0376545
has OBO namespace: human_phenotype
id: HP:0004377
type: Class
subclass of: Abnormality of blood and blood-forming tissues
subclass of: HP_0011793
notation: HP:0004377

Abnormality of the anus
tree view: HP_0012732
IAO_0000115: Abnormality of the anal canal.
created by: peter
creation date: 2008-03-18T08:11:00Z
has db xref: UMLS:C4025329
has exact synonym: Abnormality of the anus
has OBO namespace: human_phenotype
id: HP:0004378
type: Class
comment: The anal canal is continuous proximally with the rectum and distally terminates with the anus.
subclass of: HP_0012732
notation: HP:0004378

Abnormality of alkaline phosphatase activity
tree view: HP_0012379
IAO_0000115: An abnormality of alkaline phosphatase activity.
created by: peter
creation date: 2008-03-18T08:13:00Z
has db xref: UMLS:C4020829
has db xref: UMLS:C4025328
has exact synonym: Abnormality of ALP activity
has OBO namespace: human_phenotype
has related synonym: Alkaline phosphatase abnormal
id: HP:0004379
type: Class
comment: Note that the alkaline phosphatase family has four isoenzymes in humans, each of which additionally can have different isoforms. The primary clinical importance of measuring alkaline phosphatase is to check the possibility of bone disease or liver disease.
subclass of: HP_0012379
notation: HP:0004379

Aortic valve calcification
tree view: Abnormal aortic valve morphology
tree view: HP_0005146
IAO_0000115: Deposition of calcium salts in the aortic valve.
created by: peter
creation date: 2008-03-18T08:52:00Z
has alternative id: HP:0004759
has alternative id: HP:0005173
has db xref: MSH:C562942
has db xref: SNOMEDCT_US:250978003
has db xref: UMLS:C0428791
has OBO namespace: human_phenotype
id: HP:0004380
type: Class
subclass of: Abnormal aortic valve morphology
subclass of: HP_0005146
notation: HP:0004380

Supravalvular aortic stenosis
tree view: Aortic valve stenosis
IAO_0000115: A pathological narrowing in the region above the aortic valve associated with restricted left ventricular outflow.
created by: peter
creation date: 2008-03-18T08:54:00Z
has db xref: Fyler:1430
has db xref: MSH:D021921
has db xref: SNOMEDCT_US:268185002
has db xref: UMLS:C0003499
has OBO namespace: human_phenotype
id: HP:0004381
type: Class
subclass of: Aortic valve stenosis
notation: HP:0004381

Mitral valve calcification
tree view: Abnormal mitral valve morphology
tree view: HP_0005146
IAO_0000115: Abnormal calcification of the mitral valve.
created by: peter
creation date: 2008-03-18T08:55:00Z
has alternative id: HP:0005149
has alternative id: HP:0200129
has db xref: SNOMEDCT_US:473372009
has db xref: UMLS:C0919718
has OBO namespace: human_phenotype
id: HP:0004382
type: Class
subclass of: Abnormal mitral valve morphology
subclass of: HP_0005146
notation: HP:0004382

Hypoplastic left heart
tree view: Hypoplastic heart
tree view: HP_0045017
IAO_0000115: Underdevelopment of the left side of the heart. May include atresia of the aortic or mitral orifice and hypoplasia of the ascending aorta.
created by: peter
creation date: 2008-03-18T08:56:00Z
has db xref: MSH:D018636
has db xref: SNOMEDCT_US:62067003
has db xref: UMLS:C0152101
has exact synonym: Heart left ventricle hypoplasia
has exact synonym: Left ventricular hypoplasia
has exact synonym: Underdeveloped left heart
has OBO namespace: human_phenotype
id: HP:0004383
type: Class
comment: Hypoplastic left heart syndrome is an unsatisfactory term describing lethal underdevelopment of the left ventricle (LV). It represents the more severe end of a spectrum of LV hypoplasia, mandating single-ventricle palliation or cardiac transplantation. Less severe borderline ventricular hypoplasia may instead allow various biventricular therapeutic strategies and better long-term outcomes.
subclass of: Hypoplastic heart
subclass of: HP_0045017
notation: HP:0004383

Type I truncus arteriosus
tree view: Truncus arteriosus
IAO_0000115: Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) with a short pulmonary trunk arises from the truncus arteriosus, giving rise to both pulmonary arteries.
created by: peter
creation date: 2008-03-18T08:57:00Z
has db xref: Fyler:0510
has db xref: Fyler:510
has db xref: UMLS:C1834934
has exact synonym: Persistent truncus arteriosus type I
has exact synonym: Type 1 truncus arteriosus
has OBO namespace: human_phenotype
id: HP:0004384
type: Class
comment: According to the Van Praagh classification (pmid:2856609). The Van Praagh classification additionally specifies the presence (subtype A) or absence (subtype B) of a ventricular septal defect.
subclass of: Truncus arteriosus
notation: HP:0004384

Protracted diarrhea
tree view: Diarrhea
created by: peter
creation date: 2008-03-18T09:00:00Z
has db xref: SNOMEDCT_US:236077008
has db xref: UMLS:C0473133
has OBO namespace: human_phenotype
id: HP:0004385
type: Class
subclass of: Diarrhea
notation: HP:0004385

Gastrointestinal inflammation
tree view: HP_0012649
tree view: HP_0012719
IAO_0000115: Inflammation of the alimentary part of the gastrointestinal system.
created by: peter
creation date: 2008-03-18T09:01:00Z
has db xref: UMLS:C1535950
has exact synonym: GI inflammation
has exact synonym: Gastrointestinal inflammation
has OBO namespace: human_phenotype
id: HP:0004386
type: Class
subclass of: HP_0012649
subclass of: HP_0012719
notation: HP:0004386

Enterocolitis
tree view: HP_0100282
IAO_0000115: An inflammation of the colon and small intestine. However, most conditions are either categorized as Enteritis (inflammation of the small intestine) or Colitis (inflammation of the large intestine).
created by: peter
creation date: 2008-03-18T09:02:00Z
has db xref: MSH:D004760
has db xref: SNOMEDCT_US:43752006
has db xref: UMLS:C0014356
has OBO namespace: human_phenotype
id: HP:0004387
type: Class
subclass of: HP_0100282
notation: HP:0004387

Microcolon
tree view: HP_0100811
IAO_0000115: A colon of abnormally small caliber.
created by: peter
creation date: 2008-03-18T09:02:00Z
has db xref: MSH:C562563
has db xref: SNOMEDCT_US:18389004
has db xref: UMLS:C0266200
has db xref: UMLS:C3553395
has OBO namespace: human_phenotype
has related synonym: Microcolon on contrast enema
id: HP:0004388
type: Class
subclass of: HP_0100811
notation: HP:0004388

Intestinal pseudo-obstruction
tree view: Abnormal intestine morphology
tree view: Gastrointestinal dysmotility
IAO_0000115: A functional rather than mechanical obstruction of the intestines, associated with manifestations that resemble those caused by an intestinal obstruction, including distension, abdominal pain, nausea, vomiting, constipation or diarrhea, in an individual in whom a mechanical blockage has been excluded.
created by: peter
creation date: 2008-03-18T09:03:00Z
has db xref: MSH:D007418
has db xref: SNOMEDCT_US:235825006
has db xref: SNOMEDCT_US:715201005
has db xref: UMLS:C0021847
has exact synonym: Intestinal pseudoobstruction
has OBO namespace: human_phenotype
id: HP:0004389
type: Class
subclass of: Abnormal intestine morphology
subclass of: Gastrointestinal dysmotility
notation: HP:0004389

Hamartomatous polyposis
tree view: HP_0005266
tree view: HP_0010566
IAO_0000115: Polyp-like protrusions which are histologically hamartomas. These can occur throughout the gastrointestinal tract. Hamartomatous polyps are composed of the normal cellular elements of the gastrointestinal tract, but have a markedly distorted architecture.
created by: peter
creation date: 2008-03-18T09:04:00Z
has db xref: SNOMEDCT_US:27391005
has db xref: UMLS:C0334092
has db xref: UMLS:C3277418
has exact synonym: Gastrointestinal hamartoma
has exact synonym: Hamartomatous polyps
has OBO namespace: human_phenotype
has related synonym: Gastrointestinal hamartomatous polyps
id: HP:0004390
type: Class
comment: Patients with Cowden-Syndrom for example often have multiple hamartomatous gastrointestinal polyps.
subclass of: HP_0005266
subclass of: HP_0010566
notation: HP:0004390

HP_0004391
IAO_0000231: IAO_0000227
IAO_0100001: Aganglionic megacolon
type: Class
deprecated: true
notation: HP:0004391

Prune belly
tree view: Abnormality of the abdominal wall
IAO_0000115: A kind of congenital defect of the anterior abdominal wall in which the intestines are evident through the thin, lax, and protruding abdominal wall in affected infants.
created by: peter
creation date: 2008-03-18T09:08:00Z
has db xref: MSH:D011535
has db xref: SNOMEDCT_US:5187006
has db xref: UMLS:C0033770
has exact synonym: Prune belly
has OBO namespace: human_phenotype
id: HP:0004392
type: Class
comment: Wrinkly folds of skin covering the abdomen as a result of partial or complete lack of abdominal muscles.
subclass of: Abnormality of the abdominal wall
notation: HP:0004392

HP_0004393
IAO_0000231: IAO_0000227
IAO_0100001: Decreased liver function
type: Class
deprecated: true
notation: HP:0004393

Multiple gastric polyps
tree view: HP_0006753
created by: peter
creation date: 2008-03-18T09:11:00Z
has db xref: MSH:C562464
has db xref: SNOMEDCT_US:78809005
has db xref: SNOMEDCT_US:87252009
has db xref: UMLS:C0236048
has OBO namespace: human_phenotype
id: HP:0004394
type: Class
subclass of: HP_0006753
notation: HP:0004394

Malnutrition
tree view: HP_0011458
created by: peter
creation date: 2008-03-18T09:12:00Z
has db xref: MSH:D044342
has db xref: SNOMEDCT_US:248325000
has db xref: SNOMEDCT_US:2492009
has db xref: SNOMEDCT_US:47563007
has db xref: SNOMEDCT_US:65404009
has db xref: SNOMEDCT_US:70241007
has db xref: UMLS:C0162429
has exact synonym: Malnutrition
has OBO namespace: human_phenotype
id: HP:0004395
type: Class
subclass of: HP_0011458
notation: HP:0004395

Poor appetite
tree view: HP_0011458
created by: peter
creation date: 2008-03-18T09:12:00Z
has db xref: SNOMEDCT_US:64379006
has db xref: UMLS:C0232462
has exact synonym: Decreased appetite
has exact synonym: Poor appetite
has OBO namespace: human_phenotype
has related synonym: No appetite
id: HP:0004396
type: Class
subclass of: HP_0011458
notation: HP:0004396

Ectopic anus
tree view: Abnormality of the anus
IAO_0000115: Abnormal displacement or malposition of the anus.
created by: peter
creation date: 2008-03-18T09:13:00Z
has db xref: SNOMEDCT_US:5153001
has db xref: UMLS:C0266231
has exact synonym: Abnormal anus position
has exact synonym: Anus malposition
has OBO namespace: human_phenotype
id: HP:0004397
in subset: hposlim core
type: Class
subclass of: Abnormality of the anus
notation: HP:0004397

Peptic ulcer
tree view: HP_0012719
IAO_0000115: An ulcer of the gastrointestinal tract.
created by: peter
creation date: 2008-03-18T09:14:00Z
has db xref: MSH:D010437
has db xref: SNOMEDCT_US:13200003
has db xref: UMLS:C0030920
has exact synonym: Sore in the lining of gastrointestinal tract
has OBO namespace: human_phenotype
id: HP:0004398
type: Class
comment: A peptic ulcer is defined as an erosion of the mucosa of the gastrointestinal tract, and can occur as esophageal ulcer, gastric ulcer, duodenal ulcer, and Meckel's Diverticulum ulcer.
subclass of: HP_0012719
notation: HP:0004398

Congenital pyloric atresia
tree view: Abnormality of the pylorus
IAO_0000115: Congenital atresia of the pylorus.
created by: peter
creation date: 2008-03-18T09:15:00Z
has db xref: UMLS:C4025327
has OBO namespace: human_phenotype
id: HP:0004399
in subset: hposlim core
type: Class
subclass of: Abnormality of the pylorus
notation: HP:0004399

Abnormality of the pylorus
tree view: Abnormality of the stomach
IAO_0000115: An abnormality of the pylorus.
created by: peter
creation date: 2008-03-18T09:15:00Z
has db xref: UMLS:C4025326
has OBO namespace: human_phenotype
id: HP:0004400
type: Class
subclass of: Abnormality of the stomach
notation: HP:0004400

Meconium ileus
tree view: HP_0010676
IAO_0000115: Obstruction of the intestine due to abnormally thick meconium.
created by: peter
creation date: 2008-03-18T09:16:00Z
has alternative id: HP:0002610
has alternative id: HP:0004402
has db xref: SNOMEDCT_US:206523001
has db xref: SNOMEDCT_US:233662009
has db xref: SNOMEDCT_US:86092005
has db xref: UMLS:C0398349
has db xref: UMLS:C2939175
has db xref: UMLS:C3553397
has exact synonym: Meconium ileus in neonates
has OBO namespace: human_phenotype
has related synonym: Distal intestinal obstruction syndrome
has related synonym: Meconium ileus on ultrasonography
id: HP:0004401
type: Class
comment: Obstruction of the intestine is known as ileus.
subclass of: HP_0010676
notation: HP:0004401

HP_0004402
IAO_0000231: IAO_0000227
IAO_0100001: Meconium ileus
type: Class
deprecated: true
notation: HP:0004402

Proximal esophageal atresia
tree view: Esophageal atresia
created by: peter
creation date: 2008-03-18T09:17:00Z
has db xref: UMLS:C4025325
has OBO namespace: human_phenotype
id: HP:0004403
type: Class
subclass of: Esophageal atresia
notation: HP:0004403

Abnormal nipple morphology
tree view: HP_0031093
IAO_0000115: An abnormality of the nipple.
created by: peter
creation date: 2008-03-18T09:18:00Z
has db xref: SNOMEDCT_US:700153004
has db xref: UMLS:C3839073
has exact synonym: Abnormality of the nipple
has OBO namespace: human_phenotype
id: HP:0004404
in subset: hposlim core
type: Class
subclass of: HP_0031093
notation: HP:0004404

Prominent nipples
tree view: Abnormal nipple morphology
created by: peter
creation date: 2008-03-18T09:19:00Z
has db xref: UMLS:C1855513
has exact synonym: Prominent nipples
has OBO namespace: human_phenotype
id: HP:0004405
in subset: hposlim core
type: Class
subclass of: Abnormal nipple morphology
notation: HP:0004405

Spontaneous, recurrent epistaxis
tree view: Epistaxis
created by: peter
creation date: 2008-03-18T09:20:00Z
has alternative id: HP:0003684
has db xref: UMLS:C3809715
has exact synonym: Recurrent epistaxes
has exact synonym: Recurrent epistaxis
has exact synonym: Recurring nosebleed
has exact synonym: Spontaneous, recurrent nosebleed
has OBO namespace: human_phenotype
id: HP:0004406
type: Class
subclass of: Epistaxis
notation: HP:0004406

Bony paranasal bossing
tree view: HP_0012812
created by: peter
creation date: 2008-03-18T09:20:00Z
has db xref: UMLS:C1857499
has OBO namespace: human_phenotype
id: HP:0004407
type: Class
subclass of: HP_0012812
notation: HP:0004407

Abnormality of the sense of smell
tree view: Abnormality of the nose
tree view: HP_0012638
IAO_0000115: An anomaly in the ability to perceive and distinguish scents (odors).
created by: peter
creation date: 2008-03-18T09:21:00Z
has alternative id: HP:0004410
has db xref: UMLS:C4021655
has exact synonym: Abnormal sense of smell
has exact synonym: Abnormality of olfaction
has exact synonym: Abnormality of the sense of smell
has exact synonym: Smell defect
has OBO namespace: human_phenotype
id: HP:0004408
in subset: hposlim core
type: Class
subclass of: Abnormality of the nose
subclass of: HP_0012638
notation: HP:0004408

Hyposmia
tree view: Abnormality of the sense of smell
IAO_0000115: A decreased sensitivity to odorants (that is, a decreased ability to perceive odors).
created by: peter
creation date: 2008-03-18T09:21:00Z
has db xref: SNOMEDCT_US:83156004
has db xref: UMLS:C2364082
has exact synonym: Decreased smell sensation
has exact synonym: Loss of smell
has exact synonym: Sense of smell impaired
has OBO namespace: human_phenotype
id: HP:0004409
in subset: hposlim core
type: Class
subclass of: Abnormality of the sense of smell
notation: HP:0004409

HP_0004410
IAO_0000231: IAO_0000227
IAO_0100001: Abnormality of the sense of smell
type: Class
deprecated: true
notation: HP:0004410

Deviated nasal septum
tree view: Abnormality of the nasal septum
IAO_0000115: Positioning of the nasal septum to the right or left in contrast to the normal midline position of the nasal septum.
created by: peter
creation date: 2008-03-18T09:23:00Z
has db xref: SNOMEDCT_US:126660000
has db xref: UMLS:C0549397
has exact synonym: Crooked nasal septum
has exact synonym: Crooked septum of nose
has exact synonym: Deviated nasal septum
has exact synonym: Deviated septum of nose
has OBO namespace: human_phenotype
id: HP:0004411
in subset: hposlim core
type: Class
subclass of: Abnormality of the nasal septum
notation: HP:0004411

HP_0004412
IAO_0000231: IAO_0000227
IAO_0100001: Cleft ala nasi
type: Class
deprecated: true
notation: HP:0004412

HP_0004413
IAO_0000231: IAO_0000227
IAO_0100001: HP_0005280
type: Class
deprecated: true
notation: HP:0004413

Abnormality of the pulmonary artery
tree view: Abnormality of the pulmonary vasculature
IAO_0000115: An abnormality of the pulmonary artery.
created by: peter
creation date: 2008-03-18T09:28:00Z
has db xref: SNOMEDCT_US:128588008
has db xref: SNOMEDCT_US:198914002
has db xref: SNOMEDCT_US:36110001
has db xref: UMLS:C0009681
has exact synonym: Abnormality of lung artery
has OBO namespace: human_phenotype
id: HP:0004414
type: Class
subclass of: Abnormality of the pulmonary vasculature
notation: HP:0004414

Pulmonary artery stenosis
tree view: HP_0030966
IAO_0000115: An abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.
created by: peter
creation date: 2008-03-18T09:28:00Z
has db xref: Fyler:1622
has db xref: MSH:D000071079
has db xref: SNOMEDCT_US:95441000
has db xref: UMLS:C0238397
has exact synonym: Narrowing of lung artery
has OBO namespace: human_phenotype
id: HP:0004415
type: Class
subclass of: HP_0030966
notation: HP:0004415

Precocious atherosclerosis
tree view: Atherosclerosis
created by: peter
creation date: 2008-03-18T09:28:00Z
has broad synonym: Premature plaque build-up in arteries
has db xref: UMLS:C4021654
has db xref: UMLS:C4280264
has exact synonym: Premature atherosclerosis
has OBO namespace: human_phenotype
id: HP:0004416
type: Class
subclass of: Atherosclerosis
notation: HP:0004416

Intermittent claudication
tree view: HP_0025323
IAO_0000115: Intermittent claudication is a symptom of peripheral arterial occlusive disease. After having walked over a distance which is individually characteristic, the patients experience pain or cramps in the calves, feet or thighs which typically subsides on standing still.
created by: peter
creation date: 2008-03-18T09:29:00Z
has db xref: MSH:D007383
has db xref: SNOMEDCT_US:63491006
has db xref: UMLS:C0021775
has OBO namespace: human_phenotype
id: HP:0004417
type: Class
comment: Vascular intermittent claudication caused by peripheral arterial disease most often related to severe atherosclerosis.
subclass of: HP_0025323
notation: HP:0004417

Thrombophlebitis
tree view: Venous thrombosis
IAO_0000115: Inflammation of a vein associated with venous thrombosis (blood clot formation within the vein).
created by: peter
creation date: 2008-03-18T09:30:00Z
has db xref: MSH:D013924
has db xref: SNOMEDCT_US:64156001
has db xref: UMLS:C0040046
has OBO namespace: human_phenotype
id: HP:0004418
type: Class
subclass of: Venous thrombosis
notation: HP:0004418

Recurrent thrombophlebitis
tree view: Thrombophlebitis
IAO_0000115: Repeated episodes of inflammation of a vein associated with venous thrombosis (blood clot formation within the vein).
created by: peter
creation date: 2008-03-18T09:31:00Z
has db xref: UMLS:C3550150
has exact synonym: Recurrent phlebitis
has exact synonym: Recurrent thrombosis
has OBO namespace: human_phenotype
id: HP:0004419
type: Class
subclass of: Thrombophlebitis
notation: HP:0004419

Arterial thrombosis
tree view: Abnormal thrombosis
IAO_0000115: The formation of a blood clot inside an artery.
created by: peter
creation date: 2008-03-18T09:32:00Z
has db xref: SNOMEDCT_US:65198009
has db xref: UMLS:C0151942
has exact synonym: Blood clot in artery
has OBO namespace: human_phenotype
id: HP:0004420
type: Class
subclass of: Abnormal thrombosis
notation: HP:0004420

Elevated systolic blood pressure
tree view: HP_0032263
IAO_0000115: Abnormal increase in systolic blood pressure.
created by: peter
creation date: 2008-03-18T09:33:00Z
has alternative id: HP:0004956
has db xref: UMLS:C1840374
has exact synonym: Elevated systolic BP
has OBO namespace: human_phenotype
id: HP:0004421
type: Class
comment: Normal systolic blood pressure is less than 120 mmHg in adults.
subclass of: HP_0032263
notation: HP:0004421

Biparietal narrowing
tree view: Abnormality of calvarial morphology
IAO_0000115: A narrowing of the biparietal diameter (i.e., of the transverse distance between the protuberances of the two parietal bones of the skull).
created by: peter
creation date: 2008-03-18T09:35:00Z
has db xref: UMLS:C1854418
has db xref: UMLS:C4280532
has OBO namespace: human_phenotype
has related synonym: Decreased width of the skull
id: HP:0004422
type: Class
subclass of: Abnormality of calvarial morphology
notation: HP:0004422

Cranium bifidum occultum
tree view: Encephalocele
created by: peter
creation date: 2008-03-18T09:37:00Z
has db xref: MSH:C566826
has db xref: SNOMEDCT_US:718099006
has db xref: UMLS:C1868598
has OBO namespace: human_phenotype
id: HP:0004423
type: Class
subclass of: Encephalocele
notation: HP:0004423

HP_0004424
IAO_0000231: IAO_0000227
IAO_0100001: Functional abnormality of the bladder
type: Class
deprecated: true
notation: HP:0004424

Flat forehead
tree view: Abnormality of the forehead
IAO_0000115: A forehead with abnormal flatness.
created by: peter
creation date: 2008-03-18T09:41:00Z
has alternative id: HP:0004659
has db xref: UMLS:C1857485
has exact synonym: Flat forehead
has exact synonym: Flattened forehead
has exact synonym: Frontal flattening
has OBO namespace: human_phenotype
id: HP:0004425
type: Class
subclass of: Abnormality of the forehead
notation: HP:0004425

Abnormality of the cheek
tree view: Abnormality of the midface
IAO_0000115: An abnormality of the cheek- one of two bilateral soft tissue facial structures in the region of the face inferior to the eyes and between the nose and the ear. "Buccal" means relating to the cheek. The cheek is part of the midface
created by: peter
creation date: 2008-03-18T09:42:00Z
has db xref: UMLS:C4025324
has exact synonym: Abnormality of the cheek
has exact synonym: Abnormality of the cheeks
has narrow synonym: Anomaly of the cheeks
has narrow synonym: Deformity of the cheeks
has narrow synonym: Malformation of the cheeks
has OBO namespace: human_phenotype
id: HP:0004426
type: Class
subclass of: Abnormality of the midface
notation: HP:0004426

HP_0004427
IAO_0000231: IAO_0000227
IAO_0100001: Full cheeks
type: Class
deprecated: true
notation: HP:0004427

Elfin facies
tree view: Abnormal facial shape
IAO_0000115: This is a description previously used to describe a facial form characterized by a short, upturned nose, wide mouth, widely spaced eyes, and full cheeks. Because of the imprecision in this definition it is preferable to describe these features precisely. This term is retained because it was often used in the past, but it should not be used for new annotations.
created by: peter
creation date: 2008-03-18T09:43:00Z
has db xref: SNOMEDCT_US:69288002
has db xref: UMLS:C0332606
has exact synonym: Elf-like facial appearance
has exact synonym: Elf-like facial features
has OBO namespace: human_phenotype
has related synonym: Leprechaun facies
id: HP:0004428
in subset: hposlim core
type: Class
subclass of: Abnormal facial shape
notation: HP:0004428

Recurrent viral infections
tree view: Recurrent infections
IAO_0000115: Increased susceptibility to viral infections, as manifested by recurrent episodes of viral infection.
created by: peter
creation date: 2008-03-18T09:45:00Z
has alternative id: HP:0005364
has db xref: UMLS:C1837066
has OBO namespace: human_phenotype
id: HP:0004429
type: Class
subclass of: Recurrent infections
notation: HP:0004429

Severe combined immunodeficiency
tree view: HP_0005387
IAO_0000115: A combined immunodeficiency primary immune deficiency that is characterized by a more severe defect in both the T- and B-lymphocyte systems.
created by: peter
creation date: 2008-03-18T09:46:00Z
has db xref: MSH:D016511
has db xref: SNOMEDCT_US:31323000
has db xref: UMLS:C0085110
has exact synonym: Immunodeficiency, severe combined
has OBO namespace: human_phenotype
id: HP:0004430
type: Class
subclass of: HP_0005387
notation: HP:0004430

Complement deficiency
tree view: HP_0005339
IAO_0000115: An immunodeficiency defined by the absent or suboptimal functioning of one of the complement system proteins.
created by: peter
creation date: 2008-03-18T09:51:00Z
has db xref: SNOMEDCT_US:24743004
has db xref: UMLS:C0272242
has OBO namespace: human_phenotype
id: HP:0004431
type: Class
subclass of: HP_0005339
notation: HP:0004431

Agammaglobulinemia
tree view: Decreased antibody level in blood
IAO_0000115: Absence or extremely low level of IgA, IgM, and IgM in the circulation.
created by: peter
creation date: 2008-03-18T09:47:00Z
has alternative id: HP:0008328
has db xref: MSH:D000361
has db xref: SNOMEDCT_US:119249001
has db xref: UMLS:C0001768
has exact synonym: Agammaglobulinaemia
has OBO namespace: human_phenotype
id: HP:0004432
type: Class
subclass of: Decreased antibody level in blood
notation: HP:0004432

Secretory IgA deficiency
tree view: Decreased circulating IgA level
IAO_0000115: Deficiency of secretory IgA (polymers of 2-4 IgA monomers are linked by two additional chains) and is the primary antibody response at the mucosal level, where it forms immune complexes with pathogens and allergens.
created by: peter
creation date: 2008-03-18T09:48:00Z
has db xref: MSH:C562869
has db xref: SNOMEDCT_US:234554004
has db xref: UMLS:C0398709
has OBO namespace: human_phenotype
id: HP:0004433
type: Class
subclass of: Decreased circulating IgA level
notation: HP:0004433

C8 deficiency
tree view: Complement deficiency
IAO_0000115: A reduced level of the complement component C8 in circulation.
created by: peter
creation date: 2008-03-18T09:53:00Z
has db xref: UMLS:C3151082
has OBO namespace: human_phenotype
id: HP:0004434
type: Class
comment: The eighth component of complement (C8) plays an important role in the function of membrane attack complex (MAC) that is generated on target cells upon activation of the complement system. MAC is generated by sequential addition of C5b, C6, C7, C8, and C9 molecules, which results in the transmembrane pore and eventual cell lysis. Individuals with C8 deficiency tend to have recurrent neisserial infections.
subclass of: Complement deficiency
notation: HP:0004434

HP_0004435
IAO_0000231: IAO_0000227
IAO_0100001: HP_0010702
type: Class
deprecated: true
notation: HP:0004435

HP_0004436
IAO_0000231: IAO_0000227
IAO_0100001: Increased circulating IgA level
type: Class
deprecated: true
notation: HP:0004436

Cranial hyperostosis
tree view: Abnormality of the calvaria
tree view: HP_0100774
IAO_0000115: Excessive growth of the bones of cranium, i.e., of the skull.
created by: peter
creation date: 2008-03-18T09:57:00Z
has alternative id: HP:0002698
has broad synonym: Enlargement of skull bones
has broad synonym: Excessive growth of skull bones
has broad synonym: Hypertrophy of cranial bones
has broad synonym: Overgrowth of skull bones
has broad synonym: Thick skull bones
has db xref: UMLS:C1832451
has db xref: UMLS:C4280528
has db xref: UMLS:C4280529
has db xref: UMLS:C4280530
has db xref: UMLS:C4280531
has exact synonym: Hyperostosis of cranial bones
has exact synonym: Hyperostosis of cranial vault
has exact synonym: Increased ossification of cranial bones
has OBO namespace: human_phenotype
id: HP:0004437
type: Class
subclass of: Abnormality of the calvaria
subclass of: HP_0100774
notation: HP:0004437

Hyperostosis frontalis interna
tree view: Cranial hyperostosis
IAO_0000115: Bony overgrowth of the internal (endosteal) surface of the frontal bone.
created by: peter
creation date: 2008-03-18T09:57:00Z
has broad synonym: Enlargement of the inner surface of the frontal bone
has broad synonym: Hypertrophy of the internal surface of the frontal bone
has broad synonym: Increased ossification of the internal surface of the frontal bone
has broad synonym: Overgrowth of the inside of the frontal bone
has broad synonym: Thick inner surface of the frontal bone
has broad synonym: Thick internal surface of the frontal bone
has db xref: MSH:D006957
has db xref: SNOMEDCT_US:82054006
has db xref: UMLS:C0020494
has db xref: UMLS:C4280524
has db xref: UMLS:C4280525
has db xref: UMLS:C4280526
has db xref: UMLS:C4280527
has exact synonym: Excessive growth of inner surface of the frontal bone
has exact synonym: Hyperostosis of the internal surface of the frontal bone
has exact synonym: Overgrowth of the inner surface of the frontal bone
has OBO namespace: human_phenotype
id: HP:0004438
type: Class
subclass of: Cranial hyperostosis
notation: HP:0004438

Craniofacial dysostosis
tree view: Abnormality of the face
tree view: Abnormality of the skull
IAO_0000115: A characteristic appearance resulting from defective ossification of craniofacial bones.
created by: peter
creation date: 2008-03-18T09:58:00Z
has db xref: MSH:D003394
has db xref: SNOMEDCT_US:28861008
has db xref: UMLS:C0010273
has exact synonym: Crouzon syndrome
has OBO namespace: human_phenotype
id: HP:0004439
type: Class
comment: Note: This term is used in the medical literature to describe an appearance of the face of patients with Crouzon syndrome (also called craniofacial dysostosis), which is characterized by acrocephaly, exophthalmos, hypertelorism, strabismus, parrot-beaked nose, and hypoplastic maxilla. This is thus probably mainly used as a bundled term and should be replaced by better descriptions in the future.
subclass of: Abnormality of the face
subclass of: Abnormality of the skull
notation: HP:0004439

Coronal craniosynostosis
tree view: Craniosynostosis
IAO_0000115: Premature closure of the coronal suture of skull.
created by: peter
creation date: 2008-03-18T09:59:00Z
has alternative id: HP:0002675
has alternative id: HP:0002685
has alternative id: HP:0002739
has alternative id: HP:0004441
has db xref: UMLS:C1856266
has exact synonym: Coronal suture craniosynostosis
has exact synonym: Coronal suture synostosis
has exact synonym: Craniosynostosis of coronal suture
has OBO namespace: human_phenotype
id: HP:0004440
in subset: hposlim core
type: Class
subclass of: Craniosynostosis
notation: HP:0004440

HP_0004441
IAO_0000231: IAO_0000227
IAO_0100001: Coronal craniosynostosis
type: Class
deprecated: true
notation: HP:0004441

Sagittal craniosynostosis
tree view: Craniosynostosis
IAO_0000115: A kind of craniosynostosis affecting the sagittal suture.
created by: peter
creation date: 2008-03-18T10:01:00Z
has db xref: SNOMEDCT_US:109418001
has db xref: UMLS:C0432123
has exact synonym: Craniosynostosis, sagittal
has exact synonym: Craniosynostosis, sagittal suture
has exact synonym: Early closure of midline skull joint
has exact synonym: Midline skull joint closes early
has exact synonym: Sagittal suture synostosis
has OBO namespace: human_phenotype
id: HP:0004442
in subset: hposlim core
type: Class
subclass of: Craniosynostosis
notation: HP:0004442

Lambdoidal craniosynostosis
tree view: Craniosynostosis
IAO_0000115: A kind of craniosynostosis affecting the lambdoidal suture.
created by: peter
creation date: 2008-03-18T10:01:00Z
has alternative id: HP:0004486
has db xref: MSH:D003398
has db xref: SNOMEDCT_US:109417006
has db xref: UMLS:C1833340
has exact synonym: Lambdoid suture craniosynostosis
has exact synonym: Lambdoid suture synostosis
has OBO namespace: human_phenotype
id: HP:0004443
in subset: hposlim core
type: Class
subclass of: Craniosynostosis
notation: HP:0004443

Spherocytosis
tree view: Poikilocytosis
IAO_0000115: The presence of erythrocytes that are sphere-shaped.
created by: peter
creation date: 2008-03-18T10:05:00Z
has alternative id: HP:0004816
has db xref: SNOMEDCT_US:17235000
has db xref: UMLS:C0553720
has OBO namespace: human_phenotype
id: HP:0004444
type: Class
comment: Erythrocytes are normally biconcave rather than spherical.
subclass of: Poikilocytosis
notation: HP:0004444

Elliptocytosis
tree view: Poikilocytosis
IAO_0000115: The presence of elliptical, cigar-shaped erythrocytes on peripheral blood smear.
created by: peter
creation date: 2008-03-18T10:05:00Z
has alternative id: HP:0004837
has db xref: MSH:D004612
has db xref: SNOMEDCT_US:178935009
has db xref: SNOMEDCT_US:191169008
has db xref: SNOMEDCT_US:250242004
has db xref: UMLS:C0013902
has db xref: UMLS:C0427480
has exact synonym: Ovalocytosis
has OBO namespace: human_phenotype
has related synonym: Elliptocyte
has related synonym: Hereditary elliptocytosis
id: HP:0004445
type: Class
subclass of: Poikilocytosis
notation: HP:0004445

Stomatocytosis
tree view: Poikilocytosis
IAO_0000115: The presence of erythrocytes with a mouth-shaped (stoma) area of central pallor on peripheral blood smear.
created by: peter
creation date: 2008-03-18T10:05:00Z
has alternative id: HP:0004801
has db xref: UMLS:C0677598
has exact synonym: Red cell stomatocytosis
has exact synonym: erythrocyte stomatocytes
has OBO namespace: human_phenotype
id: HP:0004446
type: Class
subclass of: Poikilocytosis
notation: HP:0004446

Poikilocytosis
tree view: Abnormal erythrocyte morphology
IAO_0000115: The presence of abnormally shaped erythrocytes.
created by: peter
creation date: 2008-03-18T10:06:00Z
has db xref: SNOMEDCT_US:165479004
has db xref: UMLS:C0221281
has OBO namespace: human_phenotype
id: HP:0004447
type: Class
comment: General description for abnormally shaped erythrocytes.
subclass of: Abnormal erythrocyte morphology
notation: HP:0004447

Fulminant hepatic failure
tree view: HP_0006554
IAO_0000115: Hepatic failure refers to the inability of the liver to perform its normal synthetic and metabolic functions, which can result in coagulopathy and alteration in the mental status of a previously healthy individual. Hepatic failure is defined as fulminant if there is onset of encephalopathy within 4 weeks of the onset of symptoms in a patient with a previously healthy liver.
created by: peter
creation date: 2008-03-18T10:09:00Z
has db xref: MSH:D017114
has db xref: SNOMEDCT_US:197270009
has db xref: SNOMEDCT_US:235884008
has db xref: UMLS:C0162557
has OBO namespace: human_phenotype
id: HP:0004448
type: Class
subclass of: HP_0006554
notation: HP:0004448

HP_0004449
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009748
type: Class
deprecated: true
notation: HP:0004449

Preauricular skin furrow
tree view: Abnormality of periauricular region
IAO_0000115: A groove of the skin immediately in front of the ear.
has db xref: UMLS:C1852411
has exact synonym: Preauricular skin furrows
has exact synonym: Preauricular skin groove
has exact synonym: Preauricular skin sulcus
has exact synonym: Skin groove behind the ear
has exact synonym: Skin sulcus behind the ear
has OBO namespace: human_phenotype
id: HP:0004450
type: Class
subclass of: Abnormality of periauricular region
notation: HP:0004450

Postauricular skin tag
tree view: Abnormality of periauricular region
IAO_0000115: A rudimentary tag of ear tissue often containing a core of cartilage and located just in back of the auricle (outer part of the ear).
has db xref: UMLS:C4025323
has exact synonym: Postauricular acrochordon
has exact synonym: Postauricular fibroepithelial polyp
has exact synonym: Skin tag behind the ear
has OBO namespace: human_phenotype
id: HP:0004451
type: Class
subclass of: Abnormality of periauricular region
notation: HP:0004451

Abnormality of the middle ear ossicles
tree view: HP_0008609
IAO_0000115: An abnormality of the middle-ear ossicles (three small bones called malleus, incus, and stapes) that are contained within the middle ear and serve to transmit sounds from the air to the fluid-filled labyrinth (cochlea).
has alternative id: HP:0001759
has db xref: UMLS:C1836678
has exact synonym: Malformed ossicles
has exact synonym: Ossicular malformation
has OBO namespace: human_phenotype
id: HP:0004452
in subset: hposlim core
type: Class
subclass of: HP_0008609
notation: HP:0004452

Overfolding of the superior helices
tree view: Overfolded helix
IAO_0000115: A condition in which the superior portion of the helix is folded over to a greater degree than normal.
has db xref: UMLS:C1865304
has exact synonym: Overfolding of superior helix
has exact synonym: Reduced anterior-posterior diameter of vertebral bodies
has OBO namespace: human_phenotype
id: HP:0004453
type: Class
subclass of: Overfolded helix
notation: HP:0004453

Abnormal middle ear reflexes
tree view: HP_0011452
has db xref: UMLS:C1970887
has OBO namespace: human_phenotype
id: HP:0004454
type: Class
subclass of: HP_0011452
notation: HP:0004454

HP_0004455
IAO_0000231: IAO_0000227
IAO_0100001: HP_0008527
type: Class
deprecated: true
notation: HP:0004455

HP_0004456
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009748
type: Class
deprecated: true
notation: HP:0004456

HP_0004457
IAO_0000231: IAO_0000227
IAO_0100001: HP_0008527
type: Class
deprecated: true
notation: HP:0004457

Dilatated internal auditory canal
tree view: HP_0011384
IAO_0000115: The presence of a dilated inner part of external acoustic meatus.
has db xref: UMLS:C2676973
has exact synonym: Bulbous internal auditory canal
has exact synonym: Enlarged internal auditory canal
has OBO namespace: human_phenotype
id: HP:0004458
type: Class
subclass of: HP_0011384
notation: HP:0004458

Exostosis of the external auditory canal
tree view: Abnormality of the auditory canal
tree view: HP_0040095
tree view: HP_0100777
IAO_0000115: A benign bony growth projecting outward from a bone surface within the external auditory canal.
has db xref: SNOMEDCT_US:19560007
has db xref: UMLS:C0155411
has exact synonym: External auditory canal exostoses
has OBO namespace: human_phenotype
id: HP:0004459
type: Class
subclass of: Abnormality of the auditory canal
subclass of: HP_0040095
subclass of: HP_0100777
notation: HP:0004459

HP_0004460
IAO_0000231: IAO_0000227
IAO_0100001: Preauricular pit
type: Class
deprecated: true
notation: HP:0004460

Congenital earlobe sinuses
tree view: Abnormality of earlobe
has db xref: UMLS:C1969394
has exact synonym: Posterior wedging
has OBO namespace: human_phenotype
id: HP:0004461
type: Class
subclass of: Abnormality of earlobe
notation: HP:0004461

HP_0004462
IAO_0000231: IAO_0000227
IAO_0100001: HP_0006958
type: Class
deprecated: true
notation: HP:0004462

Absent brainstem auditory responses
tree view: HP_0006958
IAO_0000115: Lack of measurable response to stimulation of auditory evoked potentials.
has db xref: UMLS:C1836742
has exact synonym: No auditory brainstem response
has OBO namespace: human_phenotype
id: HP:0004463
type: Class
subclass of: HP_0006958
notation: HP:0004463

Postauricular pit
tree view: HP_0100277
IAO_0000115: Benign congenital lesion of the postauricular soft tissue consisting of a blind-ending narrow tube or pit.
has db xref: SNOMEDCT_US:43887004
has db xref: UMLS:C0395905
has exact synonym: Pit behind the ear
has exact synonym: Postauricular earpits
has exact synonym: Postauricular fistula
has exact synonym: Posterior auricular pit
has exact synonym: Posterior auricular sinus
has OBO namespace: human_phenotype
id: HP:0004464
in subset: hposlim core
type: Class
subclass of: HP_0100277
notation: HP:0004464

HP_0004465
IAO_0000231: IAO_0000227
IAO_0100001: Abnormality of the pinna
type: Class
deprecated: true
notation: HP:0004465

Prolonged brainstem auditory evoked potentials
tree view: HP_0006958
has db xref: UMLS:C4025322
has OBO namespace: human_phenotype
id: HP:0004466
type: Class
subclass of: HP_0006958
notation: HP:0004466

Preauricular pit
tree view: HP_0100277
IAO_0000115: Small indentation anterior to the insertion of the ear.
has alternative id: HP:0000392
has alternative id: HP:0004460
has alternative id: HP:0005118
has alternative id: HP:0008552
has alternative id: HP:0008578
has db xref: MSH:C563015
has db xref: SNOMEDCT_US:1955003
has db xref: SNOMEDCT_US:204271000
has db xref: SNOMEDCT_US:204272007
has db xref: UMLS:C0266610
has db xref: UMLS:C0266625
has db xref: UMLS:C0546969
has exact synonym: Ear pit
has exact synonym: Pit in front of the ear
has exact synonym: Preauricular earpits
has exact synonym: Preauricular fistulas
has exact synonym: Preauricular pits
has exact synonym: Preauricular sinus
has OBO namespace: human_phenotype
id: HP:0004467
type: Class
comment: Preauricular cysts and sinuses are ectodermal remnants from an aberrant development of the auditory tubercles, tend to be bilateral and are localized anterior to the tragus of the ear. The preauricular sinus is a benign congenital lesion of the preauricular soft tissue consisting of a blind-ending narrow tube or pit. It is also known as preauricular pit, preauricular fistula, preauricular tract and preauricular cyst. It can be asymptomatic or present as an infected and discharging sinus. It presents as a small pit adjacent to the external ear usually located at the anterior margin of the ascending limb of the helix. The preauricular sinus is variably also termed a preauricular pit, preauricular fistula, preauricular tract and preauricular cyst.
subclass of: HP_0100277
notation: HP:0004467

Anomalous tracheal cartilage
tree view: Abnormal trachea morphology
IAO_0000115: An abnormality of the C-shaped rings of hyaline cartilage, normally 16 to 20 in number, that occupy the anterior two-thirds of the circumference of the trachea (the posterior portion of the ring is completed by fibrous and smooth muscle tissue).
created by: HPO:probinson
has db xref: UMLS:C1863406
has exact synonym: Abnormal tracheal cartilaginous ring
has OBO namespace: human_phenotype
id: HP:0004468
type: Class
subclass of: Abnormal trachea morphology
notation: HP:0004468

Chronic bronchitis
tree view: HP_0012387
IAO_0000115: Chronic inflammation of the bronchi.
has db xref: MSH:D029481
has db xref: SNOMEDCT_US:63480004
has db xref: UMLS:C0008677
has OBO namespace: human_phenotype
id: HP:0004469
type: Class
subclass of: HP_0012387
notation: HP:0004469

Atretic occipital cephalocele
tree view: HP_0011815
IAO_0000115: A congenital defect in the occipital region of the skull, covered by skin of the scalp and containing meninges or remnants of glial or neural tissues.
has db xref: UMLS:C1836600
has OBO namespace: human_phenotype
id: HP:0004470
type: Class
subclass of: HP_0011815
notation: HP:0004470

Aplasia cutis congenita over the scalp vertex
tree view: HP_0007385
IAO_0000115: A developmental defect resulting in the congenital absence of skin on the scalp vertex, often just lateral to the midline.
has db xref: UMLS:C1970112
has exact synonym: Absent cutis congenita of vertex
has exact synonym: Aplasia cutis congenita of vertex
has OBO namespace: human_phenotype
id: HP:0004471
type: Class
subclass of: HP_0007385
notation: HP:0004471

Mandibular hyperostosis
tree view: HP_0005465
IAO_0000115: Hyperostosis (bony overgrowth) of the mandible.
has broad synonym: Excessive growth of mandibular bone
has broad synonym: Overgrowth of mandibular bone
has broad synonym: Thick lower jaw bone
has broad synonym: Thick mandibular bone
has db xref: UMLS:C4025321
has db xref: UMLS:C4280521
has db xref: UMLS:C4280522
has db xref: UMLS:C4280523
has exact synonym: Hyperostosis of lower jaw
has exact synonym: Hyperostosis of mandibular bone
has exact synonym: Increased ossification of mandibular bone
has OBO namespace: human_phenotype
has related synonym: Increased ossification of lower jaw
has related synonym: Increased ossification of mandible
id: HP:0004472
type: Class
comment: This bundled term will be made obsolete in future versions of the HPO.
subclass of: HP_0005465
notation: HP:0004472

HP_0004473
IAO_0000231: IAO_0000227
IAO_0100001: Large fontanelles
type: Class
deprecated: true
notation: HP:0004473

Persistent open anterior fontanelle
tree view: Delayed closure of the anterior fontanelle
IAO_0000115: The anterior fontanelle generally ossifies by around the 18th month of life. A persistent open anterior fontanelle is diagnosed if closure is delayed beyond this age.
has alternative id: HP:0004475
has alternative id: HP:0004483
has db xref: UMLS:C1849537
has exact synonym: Front fontanelle stays open
has exact synonym: Persistent, open anterior fontanel
has OBO namespace: human_phenotype
has related synonym: Anterior fontanelle open in adults
id: HP:0004474
type: Class
subclass of: Delayed closure of the anterior fontanelle
notation: HP:0004474

HP_0004475
IAO_0000231: IAO_0000227
IAO_0100001: Persistent open anterior fontanelle
type: Class
deprecated: true
notation: HP:0004475

Aplasia cutis congenita over parietal area
tree view: HP_0007385
IAO_0000115: A developmental defect resulting in the congenital absence of skin on the scalp in the parietal area.
has db xref: UMLS:C1863492
has exact synonym: Absent cutis congenita over parietal area
has OBO namespace: human_phenotype
id: HP:0004476
type: Class
subclass of: HP_0007385
notation: HP:0004476

HP_0004477
IAO_0000231: IAO_0000227
IAO_0100001: Cloverleaf skull
type: Class
deprecated: true
notation: HP:0004477

Ethmoidal encephalocele
tree view: HP_0011817
has db xref: UMLS:C1843495
has OBO namespace: human_phenotype
id: HP:0004478
type: Class
subclass of: HP_0011817
notation: HP:0004478

HP_0004479
IAO_0000231: IAO_0000227
IAO_0100001: Brachycephaly
type: Class
deprecated: true
notation: HP:0004479

HP_0004480
IAO_0000231: IAO_0000227
IAO_0100001: Sloping forehead
type: Class
deprecated: true
notation: HP:0004480

Progressive macrocephaly
tree view: Macrocephaly
IAO_0000115: The progressive development of an abnormally large skull.
has alternative id: HP:0000261
has db xref: UMLS:C1859896
has exact synonym: Macrocephaly, progressive
has exact synonym: Progressively abnormally enlarging cranium
has exact synonym: Progressively abnormally enlarging skull
has OBO namespace: human_phenotype
id: HP:0004481
type: Class
subclass of: Macrocephaly
notation: HP:0004481

Relative macrocephaly
tree view: Macrocephaly
IAO_0000115: A relatively mild degree of macrocephaly in which the head circumference is not above two standard deviations from the mean, but appears dysproportionately large when other factors such as body stature are taken into account.
has alternative id: HP:0000257
has alternative id: HP:0001364
has db xref: SNOMEDCT_US:3961000119101
has db xref: UMLS:C1849075
has exact synonym: Disproportionately large head
has exact synonym: Macrocephaly, relative
has exact synonym: Relatively large head
has OBO namespace: human_phenotype
id: HP:0004482
type: Class
subclass of: Macrocephaly
notation: HP:0004482

HP_0004483
IAO_0000231: IAO_0000227
IAO_0100001: Persistent open anterior fontanelle
type: Class
deprecated: true
notation: HP:0004483

Craniofacial asymmetry
tree view: Cranial asymmetry
tree view: Facial asymmetry
tree view: HP_0011821
IAO_0000115: Asymmetry of the bones of the skull and the face.
has db xref: UMLS:C4025320
has exact synonym: Uneven craniofacial structures
has OBO namespace: human_phenotype
has related synonym: Abnormality of craniofacial shape
has related synonym: Malformation of craniofacial shape
id: HP:0004484
type: Class
subclass of: Cranial asymmetry
subclass of: Facial asymmetry
subclass of: HP_0011821
notation: HP:0004484

Cessation of head growth
tree view: HP_0005484
IAO_0000115: Stagnation of head growth seen as flattening of the head circumference curve.
has broad synonym: Skull stopped growing
has db xref: UMLS:C4025319
has exact synonym: Cranium stopped growing
has exact synonym: Head stopped growing
has OBO namespace: human_phenotype
id: HP:0004485
type: Class
subclass of: HP_0005484
notation: HP:0004485

HP_0004486
IAO_0000231: IAO_0000227
IAO_0100001: Lambdoidal craniosynostosis
type: Class
deprecated: true
notation: HP:0004486

Acrobrachycephaly
tree view: Brachycephaly
IAO_0000115: An abnormality of head shape characterized by the presence of a short, wide head as well as a pointy or conical form of the top of the head owing to premature closure of the coronal and lambdoid sutures.
has db xref: SNOMEDCT_US:711039004
has db xref: UMLS:C1863395
has OBO namespace: human_phenotype
id: HP:0004487
type: Class
subclass of: Brachycephaly
notation: HP:0004487

Macrocephaly at birth
tree view: Macrocephaly
IAO_0000115: The presence of an abnormally large skull with onset at birth.
has broad synonym: Big head present at birth
has broad synonym: Big head present since birth
has broad synonym: Congenital large head
has broad synonym: Large head present at birth
has broad synonym: Large head present since birth
has db xref: UMLS:C1836599
has exact synonym: Big cranium present at birth
has exact synonym: Big cranium present since birth
has exact synonym: Big skull present at birth
has exact synonym: Big skull present since birth
has exact synonym: Congenital large cranium
has exact synonym: Congenital large skull
has exact synonym: Congenital macrocephaly
has exact synonym: Head circumference large for gestational age
has exact synonym: Large cranium present at birth
has exact synonym: Large cranium present since birth
has exact synonym: Large skull present at birth
has exact synonym: Large skull present since birth
has OBO namespace: human_phenotype
id: HP:0004488
in subset: hposlim core
type: Class
subclass of: Macrocephaly
notation: HP:0004488

HP_0004489
IAO_0000231: IAO_0000227
IAO_0100001: Prominent occiput
type: Class
deprecated: true
notation: HP:0004489

Calvarial hyperostosis
tree view: Cranial hyperostosis
IAO_0000115: Excessive growth of the calvaria.
has broad synonym: Enlargement of calvarial bones
has broad synonym: Excessive growth of calvarial bones
has broad synonym: Hypertrophy of calvarial bones
has broad synonym: Overgrowth of calvarial bones
has broad synonym: Thick calvarial bones
has db xref: MSH:C537963
has db xref: UMLS:C1863351
has db xref: UMLS:C4280519
has db xref: UMLS:C4280520
has exact synonym: Hyperostosis of calvarial bones
has exact synonym: Increased ossification of calvarial bones
has exact synonym: Overgrowth of skullcap
has OBO namespace: human_phenotype
id: HP:0004490
type: Class
comment: The calvaria (skull cap) is made up of the frontal, occipital, right and left parietal, right and left temporal, sphenoid, and ethmoid bones, and thus comprises the upper dome-like part of the skull and does not include the lower jaw.
subclass of: Cranial hyperostosis
notation: HP:0004490

Large posterior fontanelle
tree view: Large fontanelles
IAO_0000115: An enlargement of the posterior fontanelle relative to age-dependent norms.
has db xref: UMLS:C1855233
has exact synonym: Large posterior fontanel
has OBO namespace: human_phenotype
id: HP:0004491
type: Class
subclass of: Large fontanelles
notation: HP:0004491

Widely patent fontanelles and sutures
tree view: Large fontanelles
tree view: HP_0010537
IAO_0000115: An abnormally increased width of the cranial fontanelles and sutures.
has alternative id: HP:0002646
has alternative id: HP:0005492
has db xref: UMLS:C1849300
has exact synonym: Widely patent fontanels and sutures
has OBO namespace: human_phenotype
id: HP:0004492
type: Class
comment: This term indicates that both the fontanelles and the sutures are widely patent and thus represents a severe form of delay in closure of the fontanelles/sutures.
subclass of: Large fontanelles
subclass of: HP_0010537
notation: HP:0004492

Craniofacial hyperostosis
tree view: Abnormality of the face
tree view: Cranial hyperostosis
tree view: HP_0011821
IAO_0000115: Excessive growth of the craniofacial bones.
has broad synonym: Enlargement of craniofacial bones
has broad synonym: Excessive growth of craniofacial bones
has broad synonym: Hypertrophy of craniofacial bones
has broad synonym: Overgrowth of craniofacial bones
has broad synonym: Thick craniofacial bones
has db xref: UMLS:C1868085
has db xref: UMLS:C4280516
has db xref: UMLS:C4280517
has db xref: UMLS:C4280518
has exact synonym: Excessive bone growth of the skull and face
has exact synonym: Hyperostosis of craniofacial bones
has exact synonym: Increased ossification of craniofacial bones
has OBO namespace: human_phenotype
id: HP:0004493
in subset: hposlim core
type: Class
subclass of: Abnormality of the face
subclass of: Cranial hyperostosis
subclass of: HP_0011821
notation: HP:0004493

HP_0004494
IAO_0000231: IAO_0000227
IAO_0100001: Craniosynostosis
type: Class
deprecated: true
notation: HP:0004494

Thin anteverted nares
tree view: Anteverted nares
has db xref: UMLS:C1834056
has OBO namespace: human_phenotype
id: HP:0004495
type: Class
comment: This bundled term will be made obsolete in future versions of the HPO and should not be used for new annotations.
subclass of: Anteverted nares
notation: HP:0004495

Posterior choanal atresia
tree view: Choanal atresia
IAO_0000115: Absence or abnormal closure of the posterior portion of the choana (the posterior nasal aperture).
has db xref: MSH:C562435
has db xref: UMLS:C0220723
has OBO namespace: human_phenotype
id: HP:0004496
type: Class
subclass of: Choanal atresia
notation: HP:0004496

HP_0004497
IAO_0000231: IAO_0000227
IAO_0100001: Underdeveloped nasal alae
type: Class
deprecated: true
notation: HP:0004497

HP_0004498
IAO_0000231: IAO_0000227
IAO_0100001: Prominent nasal bridge
type: Class
deprecated: true
notation: HP:0004498

Chronic rhinitis due to narrow nasal airway
tree view: Chronic rhinitis
has db xref: UMLS:C4025318
has exact synonym: Chronic nasal inflammation due to narrow nasal airway
has OBO namespace: human_phenotype
id: HP:0004499
type: Class
subclass of: Chronic rhinitis
notation: HP:0004499

HP_0004500
IAO_0000231: IAO_0000227
IAO_0100001: Wide nasal bridge
type: Class
deprecated: true
notation: HP:0004500

HP_0004501
IAO_0000231: IAO_0000227
IAO_0100001: Broad nasal tip
type: Class
deprecated: true
notation: HP:0004501

Bilateral choanal atresia
tree view: Choanal atresia
IAO_0000115: Bilateral absence (atresia) of the posterior nasal aperture (choana).
has db xref: UMLS:C4025317
has exact synonym: Bilateral blockage of the rear opening of the nasal cavity
has exact synonym: Bilateral obstruction of the rear opening of the nasal cavity
has OBO namespace: human_phenotype
id: HP:0004502
type: Class
subclass of: Choanal atresia
notation: HP:0004502

HP_0004503
IAO_0000231: IAO_0000227
IAO_0100001: Choanal atresia
type: Class
deprecated: true
notation: HP:0004503

HP_0004504
IAO_0000231: IAO_0000227
IAO_0100001: Wide nasal bridge
type: Class
deprecated: true
notation: HP:0004504

HP_0004505
IAO_0000231: IAO_0000227
IAO_0100001: HP_0005280
type: Class
deprecated: true
notation: HP:0004505

HP_0004506
IAO_0000231: IAO_0000227
IAO_0100001: HP_0005280
type: Class
deprecated: true
notation: HP:0004506

HP_0004507
IAO_0000231: IAO_0000227
IAO_0100001: Underdeveloped nasal alae
type: Class
deprecated: true
notation: HP:0004507

HP_0004508
IAO_0000231: IAO_0000227
IAO_0100001: Exocrine pancreatic insufficiency
type: Class
deprecated: true
notation: HP:0004508

HP_0004509
IAO_0000231: IAO_0000227
IAO_0100001: Exocrine pancreatic insufficiency
type: Class
deprecated: true
notation: HP:0004509

Pancreatic islet-cell hyperplasia
tree view: HP_0006476
IAO_0000115: Hyperplasia of the islets of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells.
has alternative id: HP:0001736
has alternative id: HP:0006275
has db xref: UMLS:C0597167
has exact synonym: Hyperplastic islets of langerhans
has exact synonym: Hypertrophic pancreatic islets
has exact synonym: Islet of Langerhans hyperplasia
has exact synonym: Islets of langerhans hypertrophy
has exact synonym: Pancreatic islet-cell hypertrophy
has OBO namespace: human_phenotype
id: HP:0004510
type: Class
comment: The islets of Langerhans contain the alpha cells (producing glucagon), beta cells (insulin and amylin), delta cells (somatostatin),PP cells (pancreatic polypeptide), and the epsilon cells (ghrelin).
subclass of: HP_0006476
notation: HP:0004510

HP_0004511
IAO_0000231: IAO_0000227
IAO_0100001: Neoplasm of the pancreas
type: Class
deprecated: true
notation: HP:0004511

HP_0004512
IAO_0000231: IAO_0000227
IAO_0100001: Acute pancreatitis
type: Class
deprecated: true
notation: HP:0004512

HP_0004513
IAO_0000231: IAO_0000227
IAO_0100001: Generalized hypotrichosis
type: Class
deprecated: true
notation: HP:0004513

HP_0004514
IAO_0000231: IAO_0000227
IAO_0100001: Sparse axillary hair
type: Class
deprecated: true
notation: HP:0004514

HP_0004515
IAO_0000231: IAO_0000227
IAO_0100001: Trichodysplasia
type: Class
deprecated: true
notation: HP:0004515

HP_0004516
IAO_0000231: IAO_0000227
IAO_0100001: Absent eyelashes
type: Class
deprecated: true
notation: HP:0004516

HP_0004517
IAO_0000231: IAO_0000227
IAO_0100001: Anterior cervical hypertrichosis
type: Class
deprecated: true
notation: HP:0004517

HP_0004518
IAO_0000231: IAO_0000227
IAO_0100001: Sparse axillary hair
type: Class
deprecated: true
notation: HP:0004518

HP_0004519
IAO_0000231: IAO_0000227
IAO_0100001: Sparse eyelashes
type: Class
deprecated: true
notation: HP:0004519

HP_0004520
IAO_0000231: IAO_0000227
IAO_0100001: Sparse and thin eyebrow
type: Class
deprecated: true
notation: HP:0004520

HP_0004521
IAO_0000231: IAO_0000227
IAO_0100001: HP_0005338
type: Class
deprecated: true
notation: HP:0004521

HP_0004522
IAO_0000231: IAO_0000227
IAO_0100001: HP_0008070
type: Class
deprecated: true
notation: HP:0004522

Long eyebrows
tree view: Abnormal eyebrow morphology
IAO_0000115: Increased length of the hairs of the eyebrows.
has db xref: UMLS:C3280131
has exact synonym: Elongated eyebrow
has exact synonym: Increased horizontal length of eyebrow
has exact synonym: Increased transverse length of eyebrow
has exact synonym: Long eyebrows
has OBO namespace: human_phenotype
id: HP:0004523
type: Class
subclass of: Abnormal eyebrow morphology
notation: HP:0004523

Temporal hypotrichosis
tree view: HP_0011361
IAO_0000115: Reduced or lacking hair growth in the temporal region (i.e., around the temples on the side of the skull).
has db xref: UMLS:C4025316
has exact synonym: Reduced hair growth in temporal region
has OBO namespace: human_phenotype
id: HP:0004524
type: Class
subclass of: HP_0011361
notation: HP:0004524

HP_0004525
IAO_0000231: IAO_0000227
IAO_0100001: Hypotrichosis
type: Class
deprecated: true
notation: HP:0004525

HP_0004526
IAO_0000231: IAO_0000227
IAO_0100001: Hypotrichosis of the scalp
type: Class
deprecated: true
notation: HP:0004526

Large clumps of pigment irregularly distributed along hair shaft
tree view: Melanin pigment aggregation in hair shafts
has db xref: UMLS:C4025315
has exact synonym: Large clumps of pigment irregularly distributed along hair shaft
has OBO namespace: human_phenotype
id: HP:0004527
type: Class
subclass of: Melanin pigment aggregation in hair shafts
notation: HP:0004527

Generalized hypotrichosis
tree view: Hypotrichosis
IAO_0000115: Reduced or lacking hair growth in a generalized distribution.
has alternative id: HP:0004513
has db xref: UMLS:C4021653
has exact synonym: Hypotrichosis, generalized
has OBO namespace: human_phenotype
id: HP:0004528
type: Class
subclass of: Hypotrichosis
notation: HP:0004528

Atrophic, patchy alopecia
tree view: Patchy alopecia
has db xref: UMLS:C4025314
has OBO namespace: human_phenotype
id: HP:0004529
type: Class
subclass of: Patchy alopecia
notation: HP:0004529

HP_0004530
IAO_0000231: IAO_0000227
IAO_0100001: Abnormal eyelash morphology
type: Class
deprecated: true
notation: HP:0004530

HP_0004531
IAO_0000231: IAO_0000227
IAO_0100001: Sparse eyelashes
type: Class
deprecated: true
notation: HP:0004531

Sacral hypertrichosis
tree view: Hypertrichosis
IAO_0000115: Excessive, increased hair growth located in the sacral region.
has db xref: UMLS:C4025313
has OBO namespace: human_phenotype
id: HP:0004532
type: Class
subclass of: Hypertrichosis
notation: HP:0004532

HP_0004533
IAO_0000231: IAO_0000227
IAO_0100001: Highly arched eyebrow
type: Class
deprecated: true
notation: HP:0004533

HP_0004534
IAO_0000231: IAO_0000227
IAO_0100001: Sparse scalp hair
type: Class
deprecated: true
notation: HP:0004534

Anterior cervical hypertrichosis
tree view: Hypertrichosis
IAO_0000115: Anterior cervical hypertrichosis (ACH) or 'hairy throat' refers to the presence of a tuft of terminal hair on the anterior neck, just above the laryngeal prominence.
has alternative id: HP:0004517
has alternative id: HP:0004773
has db xref: MSH:C538390
has db xref: UMLS:C1838123
has exact synonym: Congenital cervical hypertrichosis
has exact synonym: Hypertrichosis, congenital anterior cervical
has OBO namespace: human_phenotype
id: HP:0004535
type: Class
subclass of: Hypertrichosis
notation: HP:0004535

HP_0004536
IAO_0000231: IAO_0000227
IAO_0100001: White eyebrow
type: Class
deprecated: true
notation: HP:0004536

HP_0004537
IAO_0000231: IAO_0000227
IAO_0100001: Absent pubic hair
type: Class
deprecated: true
notation: HP:0004537

HP_0004538
IAO_0000231: IAO_0000227
IAO_0100001: HP_0008070
type: Class
deprecated: true
notation: HP:0004538

HP_0004539
IAO_0000231: IAO_0000227
IAO_0100001: Absent eyelashes
type: Class
deprecated: true
notation: HP:0004539

Congenital, generalized hypertrichosis
tree view: Hypertrichosis
IAO_0000115: A confluent, generalized overgrowth of silvery blonde to gray lanugo hair at birth.
has alternative id: HP:0004547
has alternative id: HP:0004769
has db xref: MSH:C538388
has db xref: UMLS:C1855900
has exact synonym: Congenital generalized hypertrichosis
has exact synonym: Hypertrichosis universalis
has OBO namespace: human_phenotype
id: HP:0004540
type: Class
comment: Hypertrichosis refers to excessive, abnormal hairiness.
subclass of: Hypertrichosis
notation: HP:0004540

HP_0004541
IAO_0000231: IAO_0000227
IAO_0100001: Sparse scalp hair
type: Class
deprecated: true
notation: HP:0004541

HP_0004542
IAO_0000231: IAO_0000227
IAO_0100001: Sparse scalp hair
type: Class
deprecated: true
notation: HP:0004542

HP_0004543
IAO_0000231: IAO_0000227
IAO_0100001: Generalized hypertrichosis
type: Class
deprecated: true
notation: HP:0004543

Pointed frontal hairline
tree view: Abnormality of the frontal hairline
has db xref: UMLS:C4025312
has exact synonym: Pointed hairline at front of head
has OBO namespace: human_phenotype
id: HP:0004544
type: Class
subclass of: Abnormality of the frontal hairline
notation: HP:0004544

HP_0004545
IAO_0000231: IAO_0000227
IAO_0100001: Sparse axillary hair
type: Class
deprecated: true
notation: HP:0004545

HP_0004546
IAO_0000231: IAO_0000227
IAO_0100001: Thick eyebrow
type: Class
deprecated: true
notation: HP:0004546

HP_0004547
IAO_0000231: IAO_0000227
IAO_0100001: Congenital, generalized hypertrichosis
type: Class
deprecated: true
notation: HP:0004547

HP_0004548
IAO_0000231: IAO_0000227
IAO_0100001: Absent hair
type: Class
deprecated: true
notation: HP:0004548

HP_0004549
IAO_0000231: IAO_0000227
IAO_0100001: Absent axillary hair
type: Class
deprecated: true
notation: HP:0004549

HP_0004550
IAO_0000231: IAO_0000227
IAO_0100001: Alopecia universalis
type: Class
deprecated: true
notation: HP:0004550

HP_0004551
IAO_0000231: IAO_0000227
IAO_0100001: Sparse and thin eyebrow
type: Class
deprecated: true
notation: HP:0004551

Scarring alopecia of scalp
tree view: Atypical scarring of skin
tree view: Alopecia of scalp
has db xref: UMLS:C3806301
has exact synonym: Cicatricial alopecia
has OBO namespace: human_phenotype
has related synonym: Hair loss on scalp from scarring condition
id: HP:0004552
type: Class
subclass of: Atypical scarring of skin
subclass of: Alopecia of scalp
notation: HP:0004552

HP_0004553
IAO_0000231: IAO_0000227
IAO_0100001: HP_0100038
type: Class
deprecated: true
notation: HP:0004553

Generalized hypertrichosis
tree view: Hypertrichosis
IAO_0000115: Generalized excessive, abnormal hairiness.
has alternative id: HP:0004543
has alternative id: HP:0004766
has db xref: UMLS:C3277940
has OBO namespace: human_phenotype
id: HP:0004554
type: Class
subclass of: Hypertrichosis
notation: HP:0004554

HP_0004555
IAO_0000231: IAO_0000227
IAO_0100001: Sparse eyelashes
type: Class
deprecated: true
notation: HP:0004555

HP_0004556
IAO_0000231: IAO_0000227
IAO_0100001: Absent pubic hair
type: Class
deprecated: true
notation: HP:0004556

Anterior vertebral fusion
tree view: Vertebral fusion
has db xref: UMLS:C1969393
has OBO namespace: human_phenotype
id: HP:0004557
type: Class
subclass of: Vertebral fusion
notation: HP:0004557

Cervical platyspondyly
tree view: Platyspondyly
tree view: Abnormality of the cervical spine
IAO_0000115: A flattened vertebral body shape with reduced distance between the vertebral endplates affecting the cervical spine.
has alternative id: HP:0005641
has db xref: UMLS:C1856641
has exact synonym: Flattened cervical vertebral bodies
has OBO namespace: human_phenotype
id: HP:0004558
type: Class
subclass of: Platyspondyly
subclass of: Abnormality of the cervical spine
notation: HP:0004558

HP_0004559
IAO_0000231: IAO_0000227
IAO_0100001: Ovoid vertebral bodies
type: Class
deprecated: true
notation: HP:0004559

HP_0004560
IAO_0000231: IAO_0000227
IAO_0100001: Lumbar hyperlordosis
type: Class
deprecated: true
notation: HP:0004560

HP_0004561
IAO_0000231: IAO_0000227
IAO_0100001: Biconcave vertebral bodies
type: Class
deprecated: true
notation: HP:0004561

Beaking of vertebral bodies T12-L3
tree view: Beaking of vertebral bodies
has db xref: UMLS:C1854941
has OBO namespace: human_phenotype
id: HP:0004562
type: Class
subclass of: Beaking of vertebral bodies
notation: HP:0004562

Increased spinal bone density
tree view: Increased skull ossification
IAO_0000115: Increased bone density affecting the bones of the spine (vertebral column).
has db xref: UMLS:C4020828
has db xref: UMLS:C4280254
has db xref: UMLS:C4280513
has db xref: UMLS:C4280514
has db xref: UMLS:C4280515
has exact synonym: Increased density of spinal bone
has exact synonym: Ivory spinal bone
has OBO namespace: human_phenotype
has related synonym: Compact spinal bone
has related synonym: Concrete spinal bone
has related synonym: Dense spinal bone
has related synonym: Eburnation of spinal bone
has related synonym: Sclerosis of spinal bone
has related synonym: increased spinal bone density Z
id: HP:0004563
type: Class
subclass of: Increased skull ossification
notation: HP:0004563

HP_0004564
IAO_0000231: IAO_0000227
IAO_0100001: Severe platyspondyly
type: Class
deprecated: true
notation: HP:0004564

Severe platyspondyly
tree view: Platyspondyly
has alternative id: HP:0004564
has db xref: UMLS:C1850293
has exact synonym: platyspondyly, extreme
has OBO namespace: human_phenotype
id: HP:0004565
type: Class
subclass of: Platyspondyly
notation: HP:0004565

Pear-shaped vertebrae
tree view: Abnormal form of the vertebral bodies
IAO_0000115: Bulbous appearance of the anterior vertebral bodies, such that the vertebral bodies have the greatest vertical height anteriorly as well as bulbous anterior superior-inferior contours.
has db xref: UMLS:C1866731
has exact synonym: Pear-shaped vertebral bodies
has OBO namespace: human_phenotype
id: HP:0004566
type: Class
subclass of: Abnormal form of the vertebral bodies
notation: HP:0004566

HP_0004567
IAO_0000231: IAO_0000227
IAO_0100001: Thoracolumbar scoliosis
type: Class
deprecated: true
notation: HP:0004567

Beaking of vertebral bodies
tree view: Abnormal form of the vertebral bodies
IAO_0000115: Anterior tongue-like protrusions of the vertebral bodies.
has alternative id: HP:0003313
has alternative id: HP:0003315
has alternative id: HP:0004569
has alternative id: HP:0004577
has alternative id: HP:0004584
has alternative id: HP:0005122
has db xref: SNOMEDCT_US:19888007
has db xref: UMLS:C0264112
has db xref: UMLS:C1856599
has exact synonym: Anterior beaking of vertebrae
has exact synonym: Anterior beaking of vertebral bodies
has exact synonym: Beaked vertebral bodies
has exact synonym: Vertebral tongue-like protrusion
has exact synonym: Wedged vertebrae
has exact synonym: anterior beaking
has exact synonym: anterior wedging
has OBO namespace: human_phenotype
id: HP:0004568
in subset: hposlim core
type: Class
subclass of: Abnormal form of the vertebral bodies
notation: HP:0004568

HP_0004569
IAO_0000231: IAO_0000227
IAO_0100001: Beaking of vertebral bodies
type: Class
deprecated: true
notation: HP:0004569

Increased vertebral height
tree view: Abnormal form of the vertebral bodies
IAO_0000115: Increased top to bottom height of vertebral bodies.
has alternative id: HP:0005693
has db xref: UMLS:C1864853
has exact synonym: Tall vertebral bodies
has OBO namespace: human_phenotype
id: HP:0004570
type: Class
subclass of: Abnormal form of the vertebral bodies
notation: HP:0004570

Widening of cervical spinal canal
tree view: Abnormality of the cervical spine
has db xref: UMLS:C3807591
has OBO namespace: human_phenotype
id: HP:0004571
type: Class
subclass of: Abnormality of the cervical spine
notation: HP:0004571

HP_0004572
IAO_0000231: IAO_0000227
IAO_0100001: HP_0005121
type: Class
deprecated: true
notation: HP:0004572

Anterior wedging of T11
tree view: HP_0008422
IAO_0000115: An abnormality of the shape of the thoracic vertebra T11 such that it is wedge-shaped (narrow towards the front).
has db xref: UMLS:C4021652
has exact synonym: Anterior wedging of the 11th thoracic vertebra
has exact synonym: Wedge-shaped 11th thoracic vertebra
has OBO namespace: human_phenotype
id: HP:0004573
type: Class
subclass of: HP_0008422
notation: HP:0004573

HP_0004574
IAO_0000231: IAO_0000227
IAO_0100001: Lumbar hyperlordosis
type: Class
deprecated: true
notation: HP:0004574

Fusion of midcervical facet joints
tree view: Fused cervical vertebrae
has db xref: UMLS:C1847394
has OBO namespace: human_phenotype
id: HP:0004575
type: Class
subclass of: Fused cervical vertebrae
notation: HP:0004575

Sclerotic vertebral endplates
tree view: HP_0005106
IAO_0000115: Sclerosis (increased density) affecting vertebral end plates.
has db xref: UMLS:C1859698
has exact synonym: Large joint contractures
has OBO namespace: human_phenotype
id: HP:0004576
type: Class
subclass of: HP_0005106
notation: HP:0004576

HP_0004577
IAO_0000231: IAO_0000227
IAO_0100001: Beaking of vertebral bodies
type: Class
deprecated: true
notation: HP:0004577

HP_0004578
IAO_0000231: IAO_0000227
IAO_0100001: HP_0100861
type: Class
deprecated: true
notation: HP:0004578

HP_0004579
IAO_0000231: IAO_0000227
IAO_0100001: HP_0005121
type: Class
deprecated: true
notation: HP:0004579

Anterior scalloping of vertebral bodies
tree view: Biconcave vertebral bodies
IAO_0000115: An excessive concavity of the anterior surface of one or more vertebral bodies.
has db xref: UMLS:C2673652
has OBO namespace: human_phenotype
has related synonym: Anterior scalloping vertebral bodies
id: HP:0004580
type: Class
comment: One cause of anterior scalloping is an aortic aneurysm, which because of its pulsatile pressure can cause a convex defect along the anterior surface of an adjacent vertebra body. The defect may have a sclerotic margin.
subclass of: Biconcave vertebral bodies
notation: HP:0004580

Increased anterior vertebral height
tree view: Increased vertebral height
has db xref: UMLS:C1866732
has OBO namespace: human_phenotype
id: HP:0004581
type: Class
subclass of: Increased vertebral height
notation: HP:0004581

Irregularity of vertebral bodies
tree view: Abnormal form of the vertebral bodies
has db xref: UMLS:C4025311
has OBO namespace: human_phenotype
id: HP:0004582
type: Class
subclass of: Abnormal form of the vertebral bodies
notation: HP:0004582

HP_0004583
IAO_0000231: IAO_0000227
IAO_0100001: Irregular vertebral endplates
type: Class
deprecated: true
notation: HP:0004583

HP_0004584
IAO_0000231: IAO_0000227
IAO_0100001: Beaking of vertebral bodies
type: Class
deprecated: true
notation: HP:0004584

HP_0004585
IAO_0000231: IAO_0000227
IAO_0100001: Thoracolumbar scoliosis
type: Class
deprecated: true
notation: HP:0004585

Biconcave vertebral bodies
tree view: Abnormal form of the vertebral bodies
IAO_0000115: Exaggerated concavity of the anterior or posterior surface of the vertebral body, i.e., the upper and lower vertebral endplates are hollowed inward.
has alternative id: HP:0002952
has alternative id: HP:0004561
has alternative id: HP:0004620
has db xref: UMLS:C1856087
has exact synonym: Biconcave 'codfish' vertebrae
has exact synonym: Biconcave vertebrae
has exact synonym: Codfish vertebrae
has exact synonym: Fish vertebrae
has exact synonym: Scalloping of vertebral bodies
has OBO namespace: human_phenotype
id: HP:0004586
in subset: hposlim core
type: Class
comment: This finding has been called fish or codfish vertebra because of the characteristic biconcave form of fish vertebral bodies.
subclass of: Abnormal form of the vertebral bodies
notation: HP:0004586

HP_0004587
IAO_0000231: IAO_0000227
IAO_0100001: Abnormality of the cervical spine
type: Class
deprecated: true
notation: HP:0004587

HP_0004588
IAO_0000231: IAO_0000227
IAO_0100001: HP_0005787
type: Class
deprecated: true
notation: HP:0004588

Dysplasia of second lumbar vertebra
tree view: Abnormal vertebral morphology
has db xref: UMLS:C4025310
has OBO namespace: human_phenotype
id: HP:0004589
type: Class
subclass of: Abnormal vertebral morphology
notation: HP:0004589

Hypoplastic sacrum
tree view: HP_0008517
has db xref: UMLS:C1970816
has exact synonym: Small sacrum
has OBO namespace: human_phenotype
id: HP:0004590
type: Class
subclass of: HP_0008517
notation: HP:0004590

Disc-like vertebral bodies
tree view: Abnormal form of the vertebral bodies
has db xref: UMLS:C1835444
has OBO namespace: human_phenotype
id: HP:0004591
type: Class
subclass of: Abnormal form of the vertebral bodies
notation: HP:0004591

Thoracic platyspondyly
tree view: Platyspondyly
IAO_0000115: A flattened vertebral body shape with reduced distance beween the vertebral endplates affecting the thoracic spine.
has db xref: UMLS:C1862428
has OBO namespace: human_phenotype
id: HP:0004592
type: Class
subclass of: Platyspondyly
notation: HP:0004592

HP_0004593
IAO_0000231: IAO_0000227
IAO_0100001: Kyphoscoliosis
type: Class
deprecated: true
notation: HP:0004593

Hump-shaped mound of bone in central and posterior portions of vertebral endplate
tree view: Irregular vertebral endplates
has db xref: UMLS:C1839252
has OBO namespace: human_phenotype
id: HP:0004594
type: Class
subclass of: Irregular vertebral endplates
notation: HP:0004594

HP_0004595
IAO_0000231: IAO_0000227
IAO_0100001: Platyspondyly
type: Class
deprecated: true
notation: HP:0004595

HP_0004596
IAO_0000231: IAO_0000227
IAO_0100001: Lumbar hyperlordosis
type: Class
deprecated: true
notation: HP:0004596

HP_0004597
IAO_0000231: IAO_0000227
IAO_0100001: HP_0005733
type: Class
deprecated: true
notation: HP:0004597

Supernumerary vertebral ossification centers
tree view: Platyspondyly
tree view: HP_0100569
IAO_0000115: Three ossification sites are present in typical vertebral bodies (C3-L5): a single ossification center in the vertebral body, and one each in the two neural arches. This term applies if there are additional vertebral ossification centers present during the development and maturation of the spine.
has db xref: UMLS:C4025309
has OBO namespace: human_phenotype
id: HP:0004598
type: Class
subclass of: Platyspondyly
subclass of: HP_0100569
notation: HP:0004598

Absent or minimally ossified vertebral bodies
tree view: HP_0100569
has db xref: UMLS:C1832983
has OBO namespace: human_phenotype
id: HP:0004599
type: Class
subclass of: HP_0100569
notation: HP:0004599

HP_0004600
IAO_0000231: IAO_0000227
IAO_0100001: Abnormality of the odontoid process
type: Class
deprecated: true
notation: HP:0004600

Spina bifida occulta at L5
tree view: Spina bifida occulta
IAO_0000115: The closed form of spina bifida with incomplete closure of the vertebra L5 with intact overlying skin.
has db xref: UMLS:C4025308
has OBO namespace: human_phenotype
id: HP:0004601
type: Class
subclass of: Spina bifida occulta
notation: HP:0004601

Cervical C2/C3 vertebral fusion
tree view: Fused cervical vertebrae
IAO_0000115: Fusion of cervical vertebrae at C2 and C3, caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development, leading to a short neck with a low hairline at the back of the head, and restricted mobility of the upper spine.
has alternative id: HP:0004636
has db xref: MSH:D007714
has db xref: SNOMEDCT_US:388981000
has db xref: SNOMEDCT_US:5601008
has db xref: UMLS:C0022738
has exact synonym: Fusion of cervical vertebrae c2-3
has exact synonym: Klippel-Feil syndrome
has OBO namespace: human_phenotype
id: HP:0004602
type: Class
subclass of: Fused cervical vertebrae
notation: HP:0004602

Hyperconvex vertebral body endplates
tree view: HP_0005106
has db xref: UMLS:C4025307
has OBO namespace: human_phenotype
id: HP:0004603
type: Class
subclass of: HP_0005106
notation: HP:0004603

HP_0004604
IAO_0000231: IAO_0000227
IAO_0100001: HP_0008467
type: Class
deprecated: true
notation: HP:0004604

Absent vertebral body mineralization
tree view: Absent or minimally ossified vertebral bodies
IAO_0000115: A lack of bone mineralization of the vertebral bodies.
has db xref: UMLS:C1860191
has OBO namespace: human_phenotype
id: HP:0004605
type: Class
subclass of: Absent or minimally ossified vertebral bodies
notation: HP:0004605

Unossified vertebral bodies
tree view: Absent or minimally ossified vertebral bodies
IAO_0000115: A lack of ossification of the vertebral bodies.
has alternative id: HP:0008427
has db xref: UMLS:C1860202
has OBO namespace: human_phenotype
id: HP:0004606
type: Class
subclass of: Absent or minimally ossified vertebral bodies
notation: HP:0004606

Anterior beaking of lower thoracic vertebrae
tree view: Beaking of vertebral bodies
IAO_0000115: Anterior tongue-like protrusions of the lower thoracic vertebral bodies.
has db xref: UMLS:C4025306
has OBO namespace: human_phenotype
id: HP:0004607
type: Class
subclass of: Beaking of vertebral bodies
notation: HP:0004607

Anteriorly placed odontoid process
tree view: Abnormality of the odontoid process
IAO_0000115: Anterior mislocalization of the dens of the axis.
has db xref: UMLS:C1844512
has OBO namespace: human_phenotype
id: HP:0004608
type: Class
subclass of: Abnormality of the odontoid process
notation: HP:0004608

Patchy distortion of vertebrae
tree view: Abnormal form of the vertebral bodies
has db xref: UMLS:C4025305
has OBO namespace: human_phenotype
id: HP:0004609
type: Class
subclass of: Abnormal form of the vertebral bodies
notation: HP:0004609

Lumbar spinal canal stenosis
tree view: Spinal canal stenosis
IAO_0000115: An abnormal narrowing of the lumbar spinal canal.
has db xref: SNOMEDCT_US:18347007
has db xref: UMLS:C0158288
has exact synonym: Lumbar spinal stenosis
has exact synonym: Narrow lumbar spinal canal
has OBO namespace: human_phenotype
id: HP:0004610
type: Class
comment: Symptoms of lumbar spinal canal stenosis include pseudoclaudication (pain, numbness,, or weakness induced by walking and relieved by rest; the prefix pseudo is used to differentiate this manifestation from claudication, which has similar symptoms but is caused by peripheral artery disease).
subclass of: Spinal canal stenosis
notation: HP:0004610

Anterior concavity of thoracic vertebrae
tree view: Abnormal form of the vertebral bodies
has db xref: UMLS:C1839822
has exact synonym: Anteriorly concave vertebrae
has OBO namespace: human_phenotype
id: HP:0004611
type: Class
subclass of: Abnormal form of the vertebral bodies
notation: HP:0004611

HP_0004612
IAO_0000231: IAO_0000227
IAO_0100001: Cervical segmentation defect
type: Class
deprecated: true
notation: HP:0004612

HP_0004613
IAO_0000231: IAO_0000227
IAO_0100001: Hypoplasia of the odontoid process
type: Class
deprecated: true
notation: HP:0004613

Spina bifida occulta at S1
tree view: Spina bifida occulta
IAO_0000115: The closed form of spina bifida with incomplete closure of S1 with intact overlying skin.
has db xref: UMLS:C4025304
has OBO namespace: human_phenotype
id: HP:0004614
type: Class
subclass of: Spina bifida occulta
notation: HP:0004614

HP_0004615
IAO_0000231: IAO_0000227
IAO_0100001: Thoracic scoliosis
type: Class
deprecated: true
notation: HP:0004615

Cleft vertebral arch
tree view: HP_0008438
IAO_0000115: A discontinuity of the vertebral arch, i.e., of the posterior part of a vertebra.
has db xref: UMLS:C1859458
has OBO namespace: human_phenotype
has related synonym: Cleft vertebral arches
id: HP:0004616
type: Class
subclass of: HP_0008438
notation: HP:0004616

Butterfly vertebral arch
tree view: HP_0008438
IAO_0000115: Butterfly vertebrae have a cleft through the body of the vertebrae and a funnel shape at the ends.
has db xref: UMLS:C1861627
has OBO namespace: human_phenotype
id: HP:0004617
type: Class
subclass of: HP_0008438
notation: HP:0004617

Sandwich appearance of vertebral bodies
tree view: Abnormal form of the vertebral bodies
has db xref: UMLS:C1850134
has OBO namespace: human_phenotype
id: HP:0004618
type: Class
subclass of: Abnormal form of the vertebral bodies
notation: HP:0004618

Lumbar kyphoscoliosis
tree view: Kyphoscoliosis
tree view: Lumbar scoliosis
tree view: HP_0008454
has db xref: UMLS:C1834953
has OBO namespace: human_phenotype
id: HP:0004619
type: Class
subclass of: Kyphoscoliosis
subclass of: Lumbar scoliosis
subclass of: HP_0008454
notation: HP:0004619

HP_0004620
IAO_0000231: IAO_0000227
IAO_0100001: Biconcave vertebral bodies
type: Class
deprecated: true
notation: HP:0004620

Enlarged vertebral pedicles
tree view: HP_0030277
IAO_0000115: Increased size of the vertebral pedicle.
has db xref: UMLS:C4025303
has exact synonym: Hyperplastic vertebral pedicles
has OBO namespace: human_phenotype
id: HP:0004621
type: Class
comment: The vertebral pedicles are the two short, thick processes, which connect the body of the spinal vertebra to the arch.
subclass of: HP_0030277
notation: HP:0004621

Progressive intervertebral space narrowing
tree view: Intervertebral space narrowing
IAO_0000115: A progressive form of decreased height of the intervertebral disk.
has db xref: UMLS:C1837670
has OBO namespace: human_phenotype
id: HP:0004622
type: Class
subclass of: Intervertebral space narrowing
notation: HP:0004622

HP_0004623
IAO_0000231: IAO_0000227
IAO_0100001: Platyspondyly
type: Class
deprecated: true
notation: HP:0004623

HP_0004624
IAO_0000231: IAO_0000227
IAO_0100001: HP_0008476
type: Class
deprecated: true
notation: HP:0004624

Biconvex vertebral bodies
tree view: Abnormal form of the vertebral bodies
IAO_0000115: Presence of abnormal convexity of the upper and lower end plates of the vertebrae, i.e., an exaggerated bulging out of the upper and lower vertebral end plates.
has db xref: UMLS:C1866675
has OBO namespace: human_phenotype
id: HP:0004625
type: Class
comment: Note that biconvex vertebral bodies can be a normal finding in newborns.
subclass of: Abnormal form of the vertebral bodies
notation: HP:0004625

Lumbar scoliosis
tree view: Thoracolumbar scoliosis
has db xref: UMLS:C2748518
has OBO namespace: human_phenotype
id: HP:0004626
type: Class
subclass of: Thoracolumbar scoliosis
notation: HP:0004626

HP_0004627
IAO_0000231: IAO_0000227
IAO_0100001: Platyspondyly
type: Class
deprecated: true
notation: HP:0004627

HP_0004628
IAO_0000231: IAO_0000227
IAO_0100001: Irregular vertebral endplates
type: Class
deprecated: true
notation: HP:0004628

Small cervical vertebral bodies
tree view: HP_0008479
IAO_0000115: Reduced size of cervical vertebrae.
has alternative id: HP:0008429
has db xref: UMLS:C1851130
has exact synonym: Small cervical vertebrae
has OBO namespace: human_phenotype
id: HP:0004629
type: Class
subclass of: HP_0008479
notation: HP:0004629

Anterior beaking of thoracic vertebrae
tree view: Beaking of vertebral bodies
IAO_0000115: Anterior tongue-like protrusions of thoracic vertebral bodies.
has db xref: UMLS:C4025302
has OBO namespace: human_phenotype
id: HP:0004630
type: Class
subclass of: Beaking of vertebral bodies
notation: HP:0004630

Decreased cervical spine flexion due to contractures of posterior cervical muscles
tree view: Flexion contracture
has broad synonym: Inability to touch chin to chest
has db xref: UMLS:C1839653
has db xref: UMLS:C4280512
has exact synonym: Contracture of post-cervical muscles
has OBO namespace: human_phenotype
id: HP:0004631
type: Class
subclass of: Flexion contracture
notation: HP:0004631

Cervical segmentation defect
tree view: Vertebral segmentation defect
IAO_0000115: An abnormality related to a defect of vertebral separation of cervical vertebrae during development.
has alternative id: HP:0004612
has db xref: UMLS:C1862415
has exact synonym: Cervical spine segmentation defect
has OBO namespace: human_phenotype
id: HP:0004632
type: Class
subclass of: Vertebral segmentation defect
notation: HP:0004632

Lower thoracic kyphosis
tree view: Thoracic kyphosis
IAO_0000115: Over curvature of the lower thoracic region, leading to a round back or if sever to a hump.
has db xref: UMLS:C1864361
has exact synonym: Round mid-back
has OBO namespace: human_phenotype
id: HP:0004633
type: Class
subclass of: Thoracic kyphosis
notation: HP:0004633

Cuboid-shaped vertebral bodies
tree view: Abnormal form of the vertebral bodies
has db xref: UMLS:C2673653
has exact synonym: Cuboid vertebral bodies
has OBO namespace: human_phenotype
id: HP:0004634
type: Class
subclass of: Abnormal form of the vertebral bodies
notation: HP:0004634

Cervical C5/C6 vertebrae fusion
tree view: Fused cervical vertebrae
IAO_0000115: Fusion of the C5 and C6 cervical vertebrae.
has db xref: UMLS:C4025301
has OBO namespace: human_phenotype
id: HP:0004635
type: Class
subclass of: Fused cervical vertebrae
notation: HP:0004635

HP_0004636
IAO_0000231: IAO_0000227
IAO_0100001: Cervical C2/C3 vertebral fusion
type: Class
deprecated: true
notation: HP:0004636

Decreased cervical spine mobility
tree view: Abnormality of the cervical spine
has db xref: UMLS:C1859692
has exact synonym: Limited neck movement
has OBO namespace: human_phenotype
id: HP:0004637
type: Class
subclass of: Abnormality of the cervical spine
notation: HP:0004637

HP_0004638
IAO_0000231: IAO_0000227
IAO_0100001: Oligohydramnios
type: Class
deprecated: true
notation: HP:0004638

Elevated amniotic fluid alpha-fetoprotein
tree view: HP_0006254
IAO_0000115: An elevation of alpha-feto protein measured in the amniotic fluid.
has alternative id: HP:0005985
has db xref: UMLS:C1839860
has exact synonym: Elevated amniotic fluid alpha fetal protein
has exact synonym: Elevated amniotic fluid alpha-1-fetoprotein
has exact synonym: Elevated amniotic fluid alpha-fetoglobulin
has OBO namespace: human_phenotype
id: HP:0004639
type: Class
comment: This feature can be found in pregnancies with fetuses affected by a range of abnormalities including for instance encephalocele.
subclass of: HP_0006254
notation: HP:0004639

HP_0004640
IAO_0000231: IAO_0000227
IAO_0100001: Coarse facial features
type: Class
deprecated: true
notation: HP:0004640

HP_0004641
IAO_0000231: IAO_0000227
IAO_0100001: Parietal bossing
type: Class
deprecated: true
notation: HP:0004641

HP_0004642
IAO_0000231: IAO_0000227
IAO_0100001: Malar flattening
type: Class
deprecated: true
notation: HP:0004642

HP_0004643
IAO_0000231: IAO_0000227
IAO_0100001: Abnormal facial shape
type: Class
deprecated: true
notation: HP:0004643

HP_0004644
IAO_0000231: IAO_0000227
IAO_0100001: Hypoplasia of the maxilla
type: Class
deprecated: true
notation: HP:0004644

HP_0004645
IAO_0000231: IAO_0000227
IAO_0100001: Triangular face
type: Class
deprecated: true
notation: HP:0004645

Hypoplasia of the nasal bone
tree view: HP_0009924
tree view: HP_0010940
IAO_0000115: Underdevelopment of the nasal bone.
has broad synonym: Small nasal bone
has db xref: UMLS:C4021651
has exact synonym: Decreased size of nasal bone
has exact synonym: Deficiency of nasal bone
has exact synonym: Nasal bone hypoplasia
has exact synonym: Underdevelopment of nasal bone
has OBO namespace: human_phenotype
has related synonym: Hypotrophic nasal bone
id: HP:0004646
type: Class
subclass of: HP_0009924
subclass of: HP_0010940
notation: HP:0004646

HP_0004647
IAO_0000231: IAO_0000227
IAO_0100001: Myopathic facies
type: Class
deprecated: true
notation: HP:0004647

HP_0004648
IAO_0000231: IAO_0000227
IAO_0100001: Mandibular prognathia
type: Class
deprecated: true
notation: HP:0004648

HP_0004649
IAO_0000231: IAO_0000227
IAO_0100001: Abnormal facial shape
type: Class
deprecated: true
notation: HP:0004649

HP_0004650
IAO_0000231: IAO_0000227
IAO_0100001: Wide nasal bridge
type: Class
deprecated: true
notation: HP:0004650

HP_0004651
IAO_0000231: IAO_0000227
IAO_0100001: Facial myokymia
type: Class
deprecated: true
notation: HP:0004651

HP_0004652
IAO_0000231: IAO_0000227
IAO_0100001: Abnormal facial shape
type: Class
deprecated: true
notation: HP:0004652

HP_0004653
IAO_0000231: IAO_0000227
IAO_0100001: Round face
type: Class
deprecated: true
notation: HP:0004653

HP_0004654
IAO_0000231: IAO_0000227
IAO_0100001: Deep philtrum
type: Class
deprecated: true
notation: HP:0004654

HP_0004655
IAO_0000231: IAO_0000227
IAO_0100001: Abnormal facial shape
type: Class
deprecated: true
notation: HP:0004655

HP_0004656
IAO_0000231: IAO_0000227
IAO_0100001: Mandibular prognathia
type: Class
deprecated: true
notation: HP:0004656

HP_0004657
IAO_0000231: IAO_0000227
IAO_0100001: Hypertelorism
type: Class
deprecated: true
notation: HP:0004657

HP_0004658
IAO_0000231: IAO_0000227
IAO_0100001: Malar flattening
type: Class
deprecated: true
notation: HP:0004658

HP_0004659
IAO_0000231: IAO_0000227
IAO_0100001: Flat forehead
type: Class
deprecated: true
notation: HP:0004659

Hypoplasia of facial musculature
tree view: Abnormality of facial musculature
IAO_0000115: Underdevelopment of one or more muscles innervated by the facial nerve (the seventh cranial nerve).
has broad synonym: Small facial muscles
has db xref: UMLS:C1834042
has db xref: UMLS:C4280509
has db xref: UMLS:C4280510
has db xref: UMLS:C4280511
has exact synonym: Decreased size of facial muscles
has exact synonym: Deficiency of facial musculature
has exact synonym: Underdevelopment of facial muscles
has OBO namespace: human_phenotype
has related synonym: Atrophy of facial musculature
has related synonym: Hypotrophic facial musculature
id: HP:0004660
type: Class
subclass of: Abnormality of facial musculature
notation: HP:0004660

Frontalis muscle weakness
tree view: HP_0010628
tree view: HP_3000004
IAO_0000115: Reduced strength of the frontalis muscle (which is located on the forehead).
created by: HPO:skoehler
has db xref: UMLS:C1859438
has exact synonym: Weak frontalis muscle
has exact synonym: Weakness of forehead muscle
has OBO namespace: human_phenotype
id: HP:0004661
type: Class
subclass of: HP_0010628
subclass of: HP_3000004
notation: HP:0004661

HP_0004662
IAO_0000231: IAO_0000227
IAO_0100001: Triangular face
type: Class
deprecated: true
notation: HP:0004662

HP_0004663
IAO_0000231: IAO_0000227
IAO_0100001: Smooth philtrum
type: Class
deprecated: true
notation: HP:0004663

Facial midline hemangioma
tree view: Facial hemangioma
IAO_0000115: Hemangioma, a benign tumor of the vascular endothelial cells, occurring in the midline region of the face.
has db xref: UMLS:C1862496
has OBO namespace: human_phenotype
id: HP:0004664
type: Class
subclass of: Facial hemangioma
notation: HP:0004664

HP_0004665
IAO_0000231: IAO_0000227
IAO_0100001: Everted lower lip vermilion
type: Class
deprecated: true
notation: HP:0004665

HP_0004666
IAO_0000231: IAO_0000227
IAO_0100001: HP_0005280
type: Class
deprecated: true
notation: HP:0004666

HP_0004667
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009891
type: Class
deprecated: true
notation: HP:0004667

HP_0004668
IAO_0000231: IAO_0000227
IAO_0100001: Triangular face
type: Class
deprecated: true
notation: HP:0004668

HP_0004669
IAO_0000231: IAO_0000227
IAO_0100001: Micrognathia
type: Class
deprecated: true
notation: HP:0004669

HP_0004670
IAO_0000231: IAO_0000227
IAO_0100001: HP_0010628
type: Class
deprecated: true
notation: HP:0004670

HP_0004671
IAO_0000231: IAO_0000227
IAO_0100001: Malar flattening
type: Class
deprecated: true
notation: HP:0004671

HP_0004672
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009891
type: Class
deprecated: true
notation: HP:0004672

Decreased facial expression
tree view: HP_0005346
IAO_0000115: A reduced degree of voluntary and involuntary facial movements involved in responded to others or expressing emotions.
has db xref: UMLS:C1862474
has exact synonym: Decreased facial expression
has OBO namespace: human_phenotype
id: HP:0004673
type: Class
subclass of: HP_0005346
notation: HP:0004673

HP_0004674
IAO_0000231: IAO_0000227
IAO_0100001: Narrow forehead
type: Class
deprecated: true
notation: HP:0004674

HP_0004675
IAO_0000231: IAO_0000227
IAO_0100001: Abnormal facial shape
type: Class
deprecated: true
notation: HP:0004675

Prominent supraorbital arches in adult
tree view: Prominent supraorbital ridges
has db xref: UMLS:C1834993
has OBO namespace: human_phenotype
id: HP:0004676
type: Class
subclass of: Prominent supraorbital ridges
notation: HP:0004676

HP_0004677
IAO_0000231: IAO_0000227
IAO_0100001: Narrow forehead
type: Class
deprecated: true
notation: HP:0004677

HP_0004678
IAO_0000231: IAO_0000227
IAO_0100001: HP_0010101
type: Class
deprecated: true
notation: HP:0004678

Large tarsal bones
tree view: Abnormality of the tarsal bones
has db xref: UMLS:C1859116
has exact synonym: Large ankle bones
has OBO namespace: human_phenotype
id: HP:0004679
type: Class
subclass of: Abnormality of the tarsal bones
notation: HP:0004679

HP_0004680
IAO_0000231: IAO_0000227
IAO_0100001: HP_0010105
type: Class
deprecated: true
notation: HP:0004680

Deep longitudinal plantar crease
tree view: Deep plantar creases
IAO_0000115: Narrow, paramedian longitudinal depressions in the plantar skin of the forefoot.
has broad synonym: Foot crease
has db xref: UMLS:C1859223
has db xref: UMLS:C4280508
has exact synonym: Longitudinal groove on soles
has OBO namespace: human_phenotype
id: HP:0004681
in subset: hposlim core
type: Class
subclass of: Deep plantar creases
notation: HP:0004681

HP_0004682
IAO_0000231: IAO_0000227
IAO_0100001: Hallux valgus
type: Class
deprecated: true
notation: HP:0004682

HP_0004683
IAO_0000231: IAO_0000227
IAO_0100001: 2-3 toe syndactyly
type: Class
deprecated: true
notation: HP:0004683

Talipes valgus
tree view: Abnormality of the ankles
IAO_0000115: Outward turning of the heel, resulting in clubfoot with the person walking on the inner part of the foot.
has db xref: SNOMEDCT_US:79807003
has db xref: UMLS:C0152236
has OBO namespace: human_phenotype
id: HP:0004684
type: Class
comment: The phrase talipes valgus is derived from the Latin words talus (ankle), pes (poot), and valgus (outward angulation of the distal segment of a bone).
subclass of: Abnormality of the ankles
notation: HP:0004684

HP_0004685
IAO_0000231: IAO_0000227
IAO_0100001: 2-3 toe syndactyly
type: Class
deprecated: true
notation: HP:0004685

Short third metatarsal
tree view: HP_0010672
tree view: HP_0010743
IAO_0000115: Underdevelopment of the Third metatarsal bone leading to a short (hypoplastic) third metatarsal bone.
has alternative id: HP:0010673
has db xref: UMLS:C4021650
has exact synonym: Hypoplasia of the 3rd metatarsal bone
has exact synonym: Short 3rd long bone of foot
has OBO namespace: human_phenotype
id: HP:0004686
type: Class
subclass of: HP_0010672
subclass of: HP_0010743
notation: HP:0004686

HP_0004687
IAO_0000231: IAO_0000227
IAO_0100001: HP_0010064
type: Class
deprecated: true
notation: HP:0004687

Irregular tarsal bones
tree view: Abnormality of the tarsal bones
has db xref: UMLS:C1855240
has exact synonym: Abnormal shape of ankle bones
has OBO namespace: human_phenotype
id: HP:0004688
type: Class
subclass of: Abnormality of the tarsal bones
notation: HP:0004688

Short fourth metatarsal
tree view: HP_0010743
tree view: HP_0040035
IAO_0000115: Short fourth metatarsal bone.
has db xref: UMLS:C1848514
has exact synonym: Bilateral fourth metatarsal shortening
has exact synonym: Short 4th long bone of foot
has exact synonym: Short fourth metatarsus
has OBO namespace: human_phenotype
has related synonym: Short fourth metatarsals
id: HP:0004689
type: Class
subclass of: HP_0010743
subclass of: HP_0040035
notation: HP:0004689

Thickened Achilles tendon
tree view: HP_0005109
IAO_0000115: An abnormal thickening of the Achilles tendon.
has db xref: UMLS:C0919997
has exact synonym: Thickened Achilles tendon
has OBO namespace: human_phenotype
id: HP:0004690
type: Class
subclass of: HP_0005109
notation: HP:0004690

2-3 toe syndactyly
tree view: Toe syndactyly
IAO_0000115: Syndactyly with fusion of toes two and three.
has alternative id: HP:0001846
has alternative id: HP:0001856
has alternative id: HP:0003773
has alternative id: HP:0004683
has alternative id: HP:0004685
has alternative id: HP:0004697
has alternative id: HP:0004703
has alternative id: HP:0008086
has alternative id: HP:0008123
has db xref: SNOMEDCT_US:205145001
has db xref: UMLS:C0432040
has exact synonym: 2-3 syndactyly of feet
has exact synonym: 2-3 toe soft tissue syndactyly
has exact synonym: 2-3 toes syndactyly
has exact synonym: Complete cutaneous syndactyly of second and third toes
has exact synonym: Cutaneous 2,3 toe syndactyly
has exact synonym: Cutaneous syndactyly of second and third toes
has exact synonym: Syndactyly of second and third toes
has exact synonym: Toe syndactyly, 2-3
has exact synonym: Webbed 2nd and 3rd toes
has exact synonym: partial or complete syndactyly 2nd-3rd toes
has OBO namespace: human_phenotype
id: HP:0004691
type: Class
subclass of: Toe syndactyly
notation: HP:0004691

4-5 toe syndactyly
tree view: Toe syndactyly
IAO_0000115: Syndactyly with fusion of toes four and five.
has alternative id: HP:0005826
has alternative id: HP:0005861
has db xref: UMLS:C1837836
has exact synonym: Symmetric syndactyly, toes 4 and 5
has exact synonym: Syndactyly of toes 4 and 5
has exact synonym: Webbed 4th-5th toes
has OBO namespace: human_phenotype
id: HP:0004692
type: Class
subclass of: Toe syndactyly
notation: HP:0004692

HP_0004693
IAO_0000231: IAO_0000227
IAO_0100001: Rocker bottom foot
type: Class
deprecated: true
notation: HP:0004693

HP_0004694
IAO_0000231: IAO_0000227
IAO_0100001: HP_0008362
type: Class
deprecated: true
notation: HP:0004694

Calcaneal epiphyseal stippling
tree view: HP_0010655
IAO_0000115: The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the calcaneus.
has db xref: UMLS:C1861708
has OBO namespace: human_phenotype
id: HP:0004695
type: Class
subclass of: HP_0010655
notation: HP:0004695

Talipes cavus equinovarus
tree view: Talipes equinovarus
has db xref: UMLS:C1832342
has OBO namespace: human_phenotype
id: HP:0004696
type: Class
subclass of: Talipes equinovarus
notation: HP:0004696

HP_0004697
IAO_0000231: IAO_0000227
IAO_0100001: 2-3 toe syndactyly
type: Class
deprecated: true
notation: HP:0004697

HP_0004698
IAO_0000231: IAO_0000227
IAO_0100001: Postaxial hand polydactyly
type: Class
deprecated: true
notation: HP:0004698

Osteoporotic metatarsal
tree view: Abnormal metatarsal morphology
IAO_0000115: Decrease in mass and density of the metatarsal bones.
has db xref: UMLS:C1836873
has OBO namespace: human_phenotype
id: HP:0004699
type: Class
subclass of: Abnormal metatarsal morphology
notation: HP:0004699

HP_0004700
IAO_0000231: IAO_0000227
IAO_0100001: HP_0010051
type: Class
deprecated: true
notation: HP:0004700

HP_0004701
IAO_0000231: IAO_0000227
IAO_0100001: Short toe
type: Class
deprecated: true
notation: HP:0004701

HP_0004702
IAO_0000231: IAO_0000227
IAO_0100001: Short fifth metatarsal
type: Class
deprecated: true
notation: HP:0004702

HP_0004703
IAO_0000231: IAO_0000227
IAO_0100001: 2-3 toe syndactyly
type: Class
deprecated: true
notation: HP:0004703

Short fifth metatarsal
tree view: HP_0008089
tree view: HP_0010743
IAO_0000115: Short (hypoplastic) fifth metatarsal bone.
has alternative id: HP:0004702
has alternative id: HP:0010671
has db xref: UMLS:C4021649
has exact synonym: Hypoplasia of the fifth metatarsal bone
has exact synonym: Short 5th long bone of foot
has OBO namespace: human_phenotype
id: HP:0004704
type: Class
subclass of: HP_0008089
subclass of: HP_0010743
notation: HP:0004704

HP_0004705
IAO_0000231: IAO_0000227
IAO_0100001: Metatarsal synostosis
type: Class
deprecated: true
notation: HP:0004705

HP_0004706
IAO_0000231: IAO_0000227
IAO_0100001: HP_0010743
type: Class
deprecated: true
notation: HP:0004706

HP_0004707
IAO_0000231: IAO_0000227
IAO_0100001: HP_0010621
type: Class
deprecated: true
notation: HP:0004707

HP_0004708
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009779
type: Class
deprecated: true
notation: HP:0004708

HP_0004709
IAO_0000231: IAO_0000227
IAO_0100001: HP_0010068
type: Class
deprecated: true
notation: HP:0004709

HP_0004710
IAO_0000231: IAO_0000227
IAO_0100001: HP_0010055
type: Class
deprecated: true
notation: HP:0004710

HP_0004711
IAO_0000231: IAO_0000227
IAO_0100001: Achilles tendon contracture
type: Class
deprecated: true
notation: HP:0004711

Renal malrotation
tree view: HP_0012210
IAO_0000115: An abnormality of the normal developmental rotation of the kidney leading to an abnormal orientation of the kidney.
has alternative id: HP:0004730
has db xref: SNOMEDCT_US:49008000
has db xref: UMLS:C0238210
has exact synonym: Abnormal rotation of the kidneys
has exact synonym: Malrotation of the kidney
has OBO namespace: human_phenotype
id: HP:0004712
type: Class
comment: The final kidney position in the renal fossa results from the rotation of the kidney with an orientation of the renal pelvis to the medial and the renal calyces to the lateral. Malrotation of the kidney can lead to orientation of the renal pelvis anteriorly, posteriorly and laterally. In most cases, renal malrotation does not cause any symptoms, but, hydronephrosis or stone formation can be observed as complications of renal malformation.
subclass of: HP_0012210
notation: HP:0004712

Reversible renal failure
tree view: Renal insufficiency
IAO_0000115: Acute renal failure with resolution of manifestations.
has db xref: UMLS:C1843276
has exact synonym: Reversible kidney failure
has exact synonym: Reversible renal failure
has OBO namespace: human_phenotype
id: HP:0004713
type: Class
subclass of: Renal insufficiency
notation: HP:0004713

HP_0004714
IAO_0000231: IAO_0000227
IAO_0100001: HP_0005576
type: Class
deprecated: true
notation: HP:0004714

HP_0004715
IAO_0000231: IAO_0000227
IAO_0100001: Multicystic kidney dysplasia
type: Class
deprecated: true
notation: HP:0004715

HP_0004716
IAO_0000231: IAO_0000227
IAO_0100001: Polycystic kidney dysplasia
type: Class
deprecated: true
notation: HP:0004716

Axial malrotation of the kidney
tree view: Renal malrotation
IAO_0000115: An abnormality of the normal developmental rotation of the kidney leading to an abnormal axial orientation of the kidney.
has db xref: UMLS:C4025300
has OBO namespace: human_phenotype
id: HP:0004717
type: Class
subclass of: Renal malrotation
notation: HP:0004717

HP_0004718
IAO_0000231: IAO_0000227
IAO_0100001: Nephrotic syndrome
type: Class
deprecated: true
notation: HP:0004718

Hyperechogenic kidneys
tree view: HP_0012210
IAO_0000115: An increase in amplitude of waves returned in ultrasonography of the kidney, which is generally displayed as increased brightness of the signal.
has db xref: UMLS:C3275899
has OBO namespace: human_phenotype
id: HP:0004719
type: Class
subclass of: HP_0012210
notation: HP:0004719

HP_0004720
IAO_0000231: IAO_0000227
IAO_0100001: Stage 5 chronic kidney disease
type: Class
deprecated: true
notation: HP:0004720

HP_0004721
IAO_0000231: IAO_0000227
IAO_0100001: Renal dysplasia
type: Class
deprecated: true
notation: HP:0004721

Thickening of the glomerular basement membrane
tree view: Abnormality of renal glomerulus morphology
IAO_0000115: Increase in thickness of the basal lamina of the glomerulus of the kidney.
has db xref: SNOMEDCT_US:264932002
has db xref: UMLS:C0445347
has OBO namespace: human_phenotype
id: HP:0004722
type: Class
comment: This finding is demonstrated on renal biopsy.
subclass of: Abnormality of renal glomerulus morphology
notation: HP:0004722

HP_0004723
IAO_0000231: IAO_0000227
IAO_0100001: Renal insufficiency
type: Class
deprecated: true
notation: HP:0004723

Calcium nephrolithiasis
tree view: Nephrolithiasis
IAO_0000115: The presence of calcium-containing calculi (stones) in the kidneys.
has db xref: UMLS:C1855801
has exact synonym: Ca kidney stone
has exact synonym: Ca nephrolithiasis
has exact synonym: Ca2+ kidney stone
has exact synonym: Ca2+ nephrolithiasis
has exact synonym: Calcium kidney stone
has OBO namespace: human_phenotype
id: HP:0004724
type: Class
comment: The overwhelming majority of renal calculi contain calcium.
subclass of: Nephrolithiasis
notation: HP:0004724

HP_0004725
IAO_0000231: IAO_0000227
IAO_0100001: Stage 5 chronic kidney disease
type: Class
deprecated: true
notation: HP:0004725

HP_0004726
IAO_0000231: IAO_0000227
IAO_0100001: HP_0012210
type: Class
deprecated: true
notation: HP:0004726

Impaired renal concentrating ability
tree view: HP_0011038
IAO_0000115: A defect in the ability to concentrate the urine.
has alternative id: HP:0005568
has db xref: UMLS:C1859819
has exact synonym: Urine concentrating defect
has exact synonym: Urine concentration defect
has OBO namespace: human_phenotype
id: HP:0004727
type: Class
comment: An impairment in renal concentrating ability can be easily recognized by the maximum concentrating ability (Umax) as determined by the urine osmolality reached after a fixed period of dehydration. Inability to maximally concentrate the urine is related to one or both of two basic tubular defects: 1) a failure of maximal free-water generation by the diluting segment in the ascending limb of Henle's loop; and 2) a failure of the distal tubular epithelium to achieve maximum permeability to water during water deprivation.
subclass of: HP_0011038
notation: HP:0004727

HP_0004728
IAO_0000231: IAO_0000227
IAO_0100001: Diffuse mesangial sclerosis
type: Class
deprecated: true
notation: HP:0004728

Acute tubulointerstitial nephritis
tree view: Tubulointerstitial nephritis
IAO_0000115: Acute inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules.
has db xref: MSH:C564356
has db xref: UMLS:C1843274
has OBO namespace: human_phenotype
id: HP:0004729
type: Class
subclass of: Tubulointerstitial nephritis
notation: HP:0004729

HP_0004730
IAO_0000231: IAO_0000227
IAO_0100001: Renal malrotation
type: Class
deprecated: true
notation: HP:0004730

HP_0004731
IAO_0000231: IAO_0000227
IAO_0100001: Abnormal renal collecting system morphology
type: Class
deprecated: true
notation: HP:0004731

Impaired renal uric acid clearance
tree view: HP_0011036
IAO_0000115: A reduction in the ability of the kidneys to remove uric acid from the serum.
has db xref: UMLS:C1969371
has OBO namespace: human_phenotype
id: HP:0004732
type: Class
subclass of: HP_0011036
notation: HP:0004732

HP_0004733
IAO_0000231: IAO_0000227
IAO_0100001: Stage 5 chronic kidney disease
type: Class
deprecated: true
notation: HP:0004733

Renal cortical microcysts
tree view: Renal cortical cysts
IAO_0000115: Cysts of microscopic size confined to the cortex of the kidney.
has alternative id: HP:0000814
has db xref: UMLS:C1865877
has exact synonym: Cortical microcysts
has exact synonym: Multiple renal cortical microcysts
has exact synonym: Multiple small renal cortical cysts
has OBO namespace: human_phenotype
id: HP:0004734
type: Class
subclass of: Renal cortical cysts
notation: HP:0004734

HP_0004735
IAO_0000231: IAO_0000227
IAO_0100001: HP_0012210
type: Class
deprecated: true
notation: HP:0004735

Crossed fused renal ectopia
tree view: Ectopic kidney
IAO_0000115: A developmental anomaly in which the kidneys are fused and localized on the same side of the midline. This anomaly is thought to result from disruption of the normal embryologic migration of the kidneys.
has db xref: UMLS:C1835796
has exact synonym: Ectopic kidney with fusion
has OBO namespace: human_phenotype
id: HP:0004736
type: Class
subclass of: Ectopic kidney
notation: HP:0004736

Global glomerulosclerosis
tree view: Glomerulosclerosis
IAO_0000115: Complete and diffuse scarring of glomerulus.
has db xref: UMLS:C1865276
has OBO namespace: human_phenotype
id: HP:0004737
type: Class
comment: All portions of all glomeruli are affected.
subclass of: Glomerulosclerosis
notation: HP:0004737

HP_0004738
IAO_0000231: IAO_0000227
IAO_0100001: Stage 5 chronic kidney disease
type: Class
deprecated: true
notation: HP:0004738

HP_0004739
IAO_0000231: IAO_0000227
IAO_0100001: Polycystic kidney dysplasia
type: Class
deprecated: true
notation: HP:0004739

HP_0004740
IAO_0000231: IAO_0000227
IAO_0100001: Polycystic kidney dysplasia
type: Class
deprecated: true
notation: HP:0004740

HP_0004741
IAO_0000231: IAO_0000227
IAO_0100001: Renal hypoplasia
type: Class
deprecated: true
notation: HP:0004741

Abnormal renal collecting system morphology
tree view: HP_0012210
IAO_0000115: An abnormality of the renal collecting system.
has alternative id: HP:0004731
has db xref: UMLS:C1851303
has exact synonym: Abnormal collecting system
has exact synonym: Abnormality of the renal collecting system
has exact synonym: Renal collecting system anomalies
has OBO namespace: human_phenotype
id: HP:0004742
type: Class
subclass of: HP_0012210
notation: HP:0004742

Chronic tubulointerstitial nephritis
tree view: Tubulointerstitial nephritis
IAO_0000115: Chronic inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules.
has db xref: SNOMEDCT_US:60926001
has db xref: UMLS:C0238304
has OBO namespace: human_phenotype
id: HP:0004743
type: Class
subclass of: Tubulointerstitial nephritis
notation: HP:0004743

HP_0004744
IAO_0000231: IAO_0000227
IAO_0100001: HP_0008678
type: Class
deprecated: true
notation: HP:0004744

HP_0004745
IAO_0000231: IAO_0000227
IAO_0100001: Renal agenesis
type: Class
deprecated: true
notation: HP:0004745

Glomerular subendothelial electron-dense deposits
tree view: HP_0030949
IAO_0000115: Electron dense deposits at the glomerular basement membrane,
has db xref: MSH:D015432
has db xref: SNOMEDCT_US:59479006
has db xref: UMLS:C0268743
has OBO namespace: human_phenotype
has related synonym: Dense deposit disease
has related synonym: Membranoproliferative glomerulonephritis type II
id: HP:0004746
type: Class
comment: Subendothelial electron-dense deposits are a characteristc feature of dense-deposit disease.
subclass of: HP_0030949
notation: HP:0004746

HP_0004747
IAO_0000231: IAO_0000227
IAO_0100001: Focal segmental glomerulosclerosis
type: Class
deprecated: true
notation: HP:0004747

HP_0004748
IAO_0000231: IAO_0000227
IAO_0100001: Nephronophthisis
type: Class
deprecated: true
notation: HP:0004748

Atrial flutter
tree view: Atrial arrhythmia
IAO_0000115: A type of atrial arrhythmia characterized by atrial rates of between 240 and 400 beats per minute and some degree of atrioventricular node conduction block. Typically, the ventricular rate is half the atrial rate. In the EKG; atrial flutter waves are observed as sawtooth-like atrial activity. Pathophysiologically, atrial flutter is a form of atrial reentry in which there is a premature electrical impulse creates a self-propagating circuit.
has db xref: MSH:D001282
has db xref: SNOMEDCT_US:5370000
has db xref: UMLS:C0004239
has OBO namespace: human_phenotype
id: HP:0004749
type: Class
comment: Atrial flutter can lead to palpitations, fatigue, dyspnea, and chest pain. Atrial flutter can be paroxysmal or persistent.
subclass of: Atrial arrhythmia
notation: HP:0004749

HP_0004750
IAO_0000231: IAO_0000227
IAO_0100001: Aortic root aneurysm
type: Class
deprecated: true
notation: HP:0004750

Paroxysmal ventricular tachycardia
tree view: Ventricular tachycardia
IAO_0000115: Episodes of ventricular tachycardia that have a sudden onset and ending.
has alternative id: HP:0005141
has db xref: SNOMEDCT_US:66657009
has db xref: UMLS:C0030591
has exact synonym: Episodes of ventricular tachycardia
has OBO namespace: human_phenotype
id: HP:0004751
type: Class
subclass of: Ventricular tachycardia
notation: HP:0004751

Congenital atrioventricular dissociation
tree view: HP_0011709
IAO_0000115: A form of atrioventricular (AV) dissociation (i.e., the atria and the ventricles are under the control of two separate pacemakers) with congenital onset.
has db xref: UMLS:C4025299
has OBO namespace: human_phenotype
id: HP:0004752
type: Class
subclass of: HP_0011709
notation: HP:0004752

HP_0004753
IAO_0000231: IAO_0000227
IAO_0100001: HP_0005180
type: Class
deprecated: true
notation: HP:0004753

Permanent atrial fibrillation
tree view: HP_0005110
IAO_0000115: AF that cannot be successfully terminated by cardioversion, and longstanding (more than 1 year) AF, where cardioversion is not indicated or has not been attempted, is termed permanent.
has db xref: SNOMEDCT_US:426749004
has db xref: SNOMEDCT_US:440028005
has db xref: UMLS:C0694539
has db xref: UMLS:C2586056
has OBO namespace: human_phenotype
has related synonym: Chronic atrial fibrillation
id: HP:0004754
type: Class
comment: The natural history of atrial fibrillation (AF) is characterized by a gradual worsening with time. AF itself produces changes in atrial function and structure. Note there is no precise definition of the duration of AF required to be regarded as chronic.
subclass of: HP_0005110
notation: HP:0004754

Supraventricular tachycardia
tree view: Tachycardia
tree view: HP_0005115
IAO_0000115: Supraventricular tachycardia (SVT) is an abnormally increased heart rate (over 100 beats per minute at rest) with origin above the level of the ventricles.
has db xref: MSH:D013617
has db xref: SNOMEDCT_US:6456007
has db xref: UMLS:C0039240
has db xref: UMLS:C1698480
has exact synonym: SVT
has exact synonym: Supraventricular tachyarrhythmia
has OBO namespace: human_phenotype
id: HP:0004755
type: Class
comment: A narrow complex (QRS width less than 120 milliseconds) reflects rapid activation of the ventricles via the normal conduction pathway, i.e. His-Purkinje system, which in turn suggests that the tachycardia originated above the AV node and is thus supraventricular.
subclass of: Tachycardia
subclass of: HP_0005115
notation: HP:0004755

Ventricular tachycardia
tree view: Tachycardia
IAO_0000115: A tachycardia originating in the ventricles characterized by rapid heart rate (over 100 beats per minute) and broad QRS complexes (over 120 ms).
has db xref: Fyler:7160
has db xref: MSH:D017180
has db xref: SNOMEDCT_US:25569003
has db xref: UMLS:C0042514
has OBO namespace: human_phenotype
id: HP:0004756
type: Class
comment: Ventricular tachycardia (VT) is a potentially life-threatening ventricular arrhythmia that presents as a wide QRS complex tachycardia, and is defined as three or more consecutive QRS complexes with a duration longer than 120 milliseconds (ms) and a rate of 100 beats per minute or more, whereby the complexes have a ventricular origin. VT can be subdivided as follows: (i) sustained VT persists for 30 seconds or more; (ii) non-sustained VT lasts less than 30 seconds; (iii) monomorphic VT displays a uniform QRS morphology; and (iv) polymorphic VT displays QRS morphologies that variy from beat to beat. VT is observed most commonly in individuals with structural heart disease or acute myocardial infarction (MI). VT may also be observed in in the setting of drug toxicity or electrolyte abnormalities or in individuals with Mendelian disease.
subclass of: Tachycardia
notation: HP:0004756

Paroxysmal atrial fibrillation
tree view: HP_0005110
IAO_0000115: Episodes of atrial fibrillation that typically last for several hours up to one day and terminate spontaneously.
has db xref: MSH:D001281
has db xref: SNOMEDCT_US:282825002
has db xref: UMLS:C0235480
has exact synonym: Atrial fibrillation, paroxysmal
has OBO namespace: human_phenotype
id: HP:0004757
type: Class
subclass of: HP_0005110
notation: HP:0004757

Effort-induced polymorphic ventricular tachycardia
tree view: Ventricular tachycardia
IAO_0000115: Polymorphic ventricular arrhythmias of varying morphologythat do not exist under resting conditions but appear only upon physical exercise or catecholamine administration.
has db xref: UMLS:C4025298
has exact synonym: Catecholaminergic polymorphic ventricular tachycardia
has exact synonym: Exercise-induced polymorphic ventricular tachycardia
has OBO namespace: human_phenotype
id: HP:0004758
type: Class
subclass of: Ventricular tachycardia
notation: HP:0004758

obsolete Nodular calcific aortic valve disease
IAO_0000231: IAO_0000227
IAO_0100001: Aortic valve calcification
has OBO namespace: human_phenotype
id: HP:0004759
type: Class
deprecated: true
notation: HP:0004759

obsolete Congenital septal defect
IAO_0000231: IAO_0000227
IAO_0100001: Abnormal cardiac septum morphology
consider: HP:0001671
has OBO namespace: human_phenotype
id: HP:0004760
type: Class
deprecated: true
notation: HP:0004760

Post-angioplasty coronary artery restenosis
tree view: Coronary artery atherosclerosis
has db xref: UMLS:C2676505
has OBO namespace: human_phenotype
id: HP:0004761
type: Class
subclass of: Coronary artery atherosclerosis
notation: HP:0004761

Hypoplasia of right ventricle
tree view: Abnormal right ventricle morphology
IAO_0000115: Underdevelopment or reduced size of the heart right ventricle, often due to a reduced number of cells.
has alternative id: HP:0004951
has db xref: Fyler:1821
has db xref: UMLS:C4082954
has exact synonym: Heart right ventricle hypoplasia
has exact synonym: Small right heart chamber
has exact synonym: Underdeveloped right heart chamber
has OBO namespace: human_phenotype
id: HP:0004762
type: Class
subclass of: Abnormal right ventricle morphology
notation: HP:0004762

Paroxysmal supraventricular tachycardia
tree view: Supraventricular tachycardia
IAO_0000115: An episodic form of supraventricular tachycardia with abrupt onset and termination.
has alternative id: HP:0004765
has broad synonym: Episodic rapid heart beat
has db xref: SNOMEDCT_US:67198005
has db xref: UMLS:C0030590
has db xref: UMLS:C4280507
has exact synonym: Episodic supraventricular tachycardia
has OBO namespace: human_phenotype
id: HP:0004763
type: Class
comment: PSVT is a term used to denote intermittent supraventricular tachycardia other than atrial fibrillation, atrial flutter and multifocal atrial tachycardia (AT). The major causes are atrioventricular reentrant tachycardia (AVNRT), atrioventricular reentrant tachycardia (AVRT), and sinoatrial node reentrant tachycardia (SNRT).
subclass of: Supraventricular tachycardia
notation: HP:0004763

Myxomatous mitral valve degeneration
tree view: Mitral valve prolapse
IAO_0000115: Myxomatous mitral valve is defined as the presence of excess leaflet tissue and leaflet thickening greater than 5 mm, resulting in a prolapse greater than 2 mm into the left atrium on parasternal long axis view.
has db xref: SNOMEDCT_US:253395003
has db xref: SNOMEDCT_US:42069006
has db xref: UMLS:C0264885
has OBO namespace: human_phenotype
id: HP:0004764
type: Class
subclass of: Mitral valve prolapse
notation: HP:0004764

HP_0004765
IAO_0000231: IAO_0000227
IAO_0100001: Paroxysmal supraventricular tachycardia
type: Class
deprecated: true
notation: HP:0004765

HP_0004766
IAO_0000231: IAO_0000227
IAO_0100001: Generalized hypertrichosis
type: Class
deprecated: true
notation: HP:0004766

HP_0004767
IAO_0000231: IAO_0000227
IAO_0100001: Slow-growing hair
type: Class
deprecated: true
notation: HP:0004767

Sparse anterior scalp hair
tree view: Abnormality of the frontal hairline
tree view: Sparse scalp hair
IAO_0000115: Decreased number of head hairs per unit area on the anterior region of the scalp.
has db xref: UMLS:C1866246
has exact synonym: Sparse scalp hair at front of head
has exact synonym: Thin scalp hair at front of head
has OBO namespace: human_phenotype
id: HP:0004768
type: Class
subclass of: Abnormality of the frontal hairline
subclass of: Sparse scalp hair
notation: HP:0004768

HP_0004769
IAO_0000231: IAO_0000227
IAO_0100001: Congenital, generalized hypertrichosis
type: Class
deprecated: true
notation: HP:0004769

HP_0004770
IAO_0000231: IAO_0000227
IAO_0100001: Slow-growing hair
type: Class
deprecated: true
notation: HP:0004770

Premature graying of body hair
tree view: Premature graying of hair
has db xref: UMLS:C1849125
has exact synonym: Premature graying of body hair
has OBO namespace: human_phenotype
id: HP:0004771
type: Class
subclass of: Premature graying of hair
notation: HP:0004771

HP_0004772
IAO_0000231: IAO_0000227
IAO_0100001: Sparse scalp hair
type: Class
deprecated: true
notation: HP:0004772

HP_0004773
IAO_0000231: IAO_0000227
IAO_0100001: Anterior cervical hypertrichosis
type: Class
deprecated: true
notation: HP:0004773

HP_0004774
IAO_0000231: IAO_0000227
IAO_0100001: Sparse scalp hair
type: Class
deprecated: true
notation: HP:0004774

HP_0004775
IAO_0000231: IAO_0000227
IAO_0100001: Sparse scalp hair
type: Class
deprecated: true
notation: HP:0004775

HP_0004776
IAO_0000231: IAO_0000227
IAO_0100001: Brittle scalp hair
type: Class
deprecated: true
notation: HP:0004776

HP_0004777
IAO_0000231: IAO_0000227
IAO_0100001: Sparse eyelashes
type: Class
deprecated: true
notation: HP:0004777

HP_0004778
IAO_0000231: IAO_0000227
IAO_0100001: Sparse pubic hair
type: Class
deprecated: true
notation: HP:0004778

Brittle scalp hair
tree view: Brittle hair
IAO_0000115: Fragile, easily breakable scalp hair.
has alternative id: HP:0004776
has db xref: UMLS:C4025296
has exact synonym: Brittle scalp hair
has OBO namespace: human_phenotype
id: HP:0004779
type: Class
subclass of: Brittle hair
notation: HP:0004779

Elbow hypertrichosis
tree view: Hypertrichosis
IAO_0000115: Excessive, increased hair growth located in the elbow region.
has db xref: UMLS:C4025295
has exact synonym: Hairy elbow
has exact synonym: Hairy elbow syndrome
has exact synonym: Hypertrichosis cubiti
has OBO namespace: human_phenotype
id: HP:0004780
type: Class
subclass of: Hypertrichosis
notation: HP:0004780

HP_0004781
IAO_0000231: IAO_0000227
IAO_0100001: Slow-growing hair
type: Class
deprecated: true
notation: HP:0004781

Hypotrichosis of the scalp
tree view: Hypotrichosis
IAO_0000115: Reduced or lacking hair growth of the scalp.
has alternative id: HP:0004526
has db xref: UMLS:C1873509
has exact synonym: Hypotrichosis on scalp
has exact synonym: Reduced/lack of hair on scalp
has exact synonym: Scalp hypotrichosis
has OBO namespace: human_phenotype
id: HP:0004782
type: Class
subclass of: Hypotrichosis
notation: HP:0004782

Duodenal polyposis
tree view: HP_0030256
IAO_0000115: Presence of multiple polyps in the duodenum.
has db xref: SNOMEDCT_US:301797007
has db xref: UMLS:C0578477
has exact synonym: Multiple duodenal polyps
has OBO namespace: human_phenotype
id: HP:0004783
type: Class
subclass of: HP_0030256
notation: HP:0004783

Juvenile gastrointestinal polyposis
tree view: Hamartomatous polyposis
IAO_0000115: The presence of multiple juvenile polyps in the stomach and intestine. The term juvenile polyps refer to a special histopathology and not the age of onset as the polyp might be diagnosed at all ages. The juvenile polyp has a spherical appearance and is microscopically characterized by overgrowth of an oedematous lamina propria with inflammatory cells and cystic glands. Juvenile polyps are a specific type of hamartomatous polyps.
has db xref: UMLS:C4025294
has exact synonym: Juvenile GI polyposis
has OBO namespace: human_phenotype
id: HP:0004784
type: Class
subclass of: Hamartomatous polyposis
notation: HP:0004784

Malrotation of colon
tree view: Abnormal large intestine morphology
tree view: Intestinal malrotation
IAO_0000115: An anatomical anomaly that results from an abnormal rotation of the gut as it returns to the abdominal cavity during embryogenesis.
has db xref: SNOMEDCT_US:6477005
has db xref: UMLS:C0266196
has OBO namespace: human_phenotype
id: HP:0004785
type: Class
subclass of: Abnormal large intestine morphology
subclass of: Intestinal malrotation
notation: HP:0004785

Jejunal diverticula
tree view: Small bowel diverticula
has db xref: UMLS:C4025293
has OBO namespace: human_phenotype
id: HP:0004786
type: Class
subclass of: Small bowel diverticula
notation: HP:0004786

Fulminant hepatitis
tree view: Fulminant hepatic failure
tree view: HP_0012115
IAO_0000115: Acute hepatitis complicated by acute liver failure with hepatic encephalopathy occurring less than 8 weeks after the onset of jaundice.
has db xref: SNOMEDCT_US:427044009
has db xref: UMLS:C0302809
has OBO namespace: human_phenotype
id: HP:0004787
type: Class
comment: Note that different definitions of fulminant hepatitis are used in the medical literature.
subclass of: Fulminant hepatic failure
subclass of: HP_0012115
notation: HP:0004787

Intestinal lymphedema
tree view: Lymphedema
tree view: HP_0005225
IAO_0000115: Fluid retention and edema in the intestine caused by a compromised lymphatic system.
has db xref: UMLS:C4025292
has OBO namespace: human_phenotype
id: HP:0004788
type: Class
subclass of: Lymphedema
subclass of: HP_0005225
notation: HP:0004788

Lactose intolerance
tree view: Malabsorption
IAO_0000115: An inability to digest lactose.
has db xref: MSH:D007787
has db xref: SNOMEDCT_US:267425008
has db xref: SNOMEDCT_US:700094005
has db xref: UMLS:C0022951
has exact synonym: Lactose intolerance
has exact synonym: Milk intolerance
has OBO namespace: human_phenotype
id: HP:0004789
type: Class
subclass of: Malabsorption
notation: HP:0004789

Hypoplasia of the small intestine
tree view: Abnormality of the small intestine
tree view: HP_0005245
IAO_0000115: Underdevelopment of the small intestine.
has db xref: UMLS:C4025291
has exact synonym: Underdeveloped small intestine
has OBO namespace: human_phenotype
id: HP:0004790
type: Class
subclass of: Abnormality of the small intestine
subclass of: HP_0005245
notation: HP:0004790

Esophageal ulceration
tree view: Abnormal esophagus morphology
IAO_0000115: Defect in the epithelium of the esophagus, essentially an open sore in the lining of the esophagus.
has db xref: SNOMEDCT_US:30811009
has db xref: UMLS:C0151970
has exact synonym: Esophagus ulcer
has exact synonym: Oesophagus ulceration
has OBO namespace: human_phenotype
id: HP:0004791
type: Class
subclass of: Abnormal esophagus morphology
notation: HP:0004791

Rectoperineal fistula
tree view: Perineal fistula
tree view: HP_0100590
IAO_0000115: The presence of a fistula between the perineum and the rectum.
has db xref: UMLS:C0240880
has OBO namespace: human_phenotype
id: HP:0004792
type: Class
subclass of: Perineal fistula
subclass of: HP_0100590
notation: HP:0004792

HP_0004793
IAO_0000231: IAO_0000227
IAO_0100001: Gastroesophageal reflux
type: Class
deprecated: true
notation: HP:0004793

Malrotation of small bowel
tree view: Abnormality of the small intestine
tree view: Intestinal malrotation
IAO_0000115: A deviation from the normal rotation of the midgut during embryologic development with mislocalization of the small bowel.
has db xref: UMLS:C1860244
has exact synonym: Malrotation of the small intestine
has OBO namespace: human_phenotype
id: HP:0004794
type: Class
comment: Malrotation results not only in the malposition of the bowel but also in the malfixation of the mesentery. The normally broad mesenteric attachment is shortened to a narrow pedicle that predisposes the patient to the complication of midgut volvulus.
subclass of: Abnormality of the small intestine
subclass of: Intestinal malrotation
notation: HP:0004794

Hamartomatous stomach polyps
tree view: Hamartomatous polyposis
tree view: HP_0006753
IAO_0000115: Polyp-like protrusions which are histologically hamartomas located in the stomach.
has db xref: UMLS:C1862304
has OBO namespace: human_phenotype
id: HP:0004795
type: Class
subclass of: Hamartomatous polyposis
subclass of: HP_0006753
notation: HP:0004795

Gastrointestinal obstruction
tree view: HP_0012719
has db xref: SNOMEDCT_US:126765001
has db xref: UMLS:C0236124
has exact synonym: GI obstruction
has exact synonym: Gastrointestinal obstruction
has exact synonym: Obstruction in digestive tract
has OBO namespace: human_phenotype
id: HP:0004796
type: Class
subclass of: HP_0012719
notation: HP:0004796

Multiple small bowel atresias
tree view: HP_0011100
IAO_0000115: The presence of multiple areas of atresia affecting the small intestine.
has db xref: UMLS:C1857476
has OBO namespace: human_phenotype
id: HP:0004797
type: Class
subclass of: HP_0011100
notation: HP:0004797

Recurrent infection of the gastrointestinal tract
tree view: Recurrent infections
tree view: HP_0012719
IAO_0000115: Recurrent infection of the gastrointestinal tract.
has db xref: SNOMEDCT_US:715852004
has db xref: UMLS:C1854495
has db xref: UMLS:C4082764
has exact synonym: Recurrent gastrointestinal infections
has exact synonym: Recurrent infection of the GI tract
has exact synonym: Recurrent infection of the gastrointestinal tract
has OBO namespace: human_phenotype
has related synonym: Gastrointestinal infections
has related synonym: Gastrointestinal infections, recurrent
id: HP:0004798
type: Class
subclass of: Recurrent infections
subclass of: HP_0012719
notation: HP:0004798

Jejunoileal diverticula
tree view: Small bowel diverticula
has db xref: UMLS:C4025290
has OBO namespace: human_phenotype
id: HP:0004799
type: Class
subclass of: Small bowel diverticula
notation: HP:0004799

Duodenal diverticula
tree view: Small bowel diverticula
has db xref: SNOMEDCT_US:197083003
has db xref: UMLS:C0341266
has OBO namespace: human_phenotype
id: HP:0004800
type: Class
subclass of: Small bowel diverticula
notation: HP:0004800

HP_0004801
IAO_0000231: IAO_0000227
IAO_0100001: Stomatocytosis
type: Class
deprecated: true
notation: HP:0004801

Episodic hemolytic anemia
tree view: Hemolytic anemia
IAO_0000115: A form of hemolytic anemia that occurs in repeated episodes.
has db xref: UMLS:C1859495
has exact synonym: Episodic hemolysis
has OBO namespace: human_phenotype
id: HP:0004802
type: Class
subclass of: Hemolytic anemia
notation: HP:0004802

HP_0004803
IAO_0000231: IAO_0000227
IAO_0100001: HP_0006721
type: Class
deprecated: true
notation: HP:0004803

Congenital hemolytic anemia
tree view: Hemolytic anemia
IAO_0000115: A form of hemolytic anemia with congenital onset.
has alternative id: HP:0004811
has alternative id: HP:0004824
has db xref: MSH:D000745
has db xref: SNOMEDCT_US:38911009
has db xref: SNOMEDCT_US:42601008
has db xref: UMLS:C0002881
has db xref: UMLS:C4020827
has exact synonym: Congenital haemolytic anemia
has OBO namespace: human_phenotype
has related synonym: Neonatal hemolytic anemia
id: HP:0004804
type: Class
subclass of: Hemolytic anemia
notation: HP:0004804

HP_0004805
IAO_0000231: IAO_0000227
IAO_0100001: Pyropoikilocytosis
type: Class
deprecated: true
notation: HP:0004805

HP_0004806
IAO_0000231: IAO_0000227
IAO_0100001: Autoimmune thrombocytopenia
type: Class
deprecated: true
notation: HP:0004806

HP_0004807
IAO_0000231: IAO_0000227
IAO_0100001: Abnormal thrombocyte morphology
type: Class
deprecated: true
notation: HP:0004807

Acute myeloid leukemia
tree view: Acute leukemia
IAO_0000115: A form of leukemia characterized by overproduction of an early myeloid cell.
has alternative id: HP:0001914
has alternative id: HP:0004843
has alternative id: HP:0005516
has alternative id: HP:0006724
has alternative id: HP:0006728
has db xref: MSH:D015470
has db xref: SNOMEDCT_US:17788007
has db xref: SNOMEDCT_US:413443009
has db xref: SNOMEDCT_US:91861009
has db xref: UMLS:C0023467
has exact synonym: AML
has exact synonym: Acute myeloblastic leukemia
has exact synonym: Acute myelocytic leukemia
has exact synonym: Acute myelogenous leukemia
has OBO namespace: human_phenotype
id: HP:0004808
type: Class
subclass of: Acute leukemia
notation: HP:0004808

Neonatal alloimmune thrombocytopenia
tree view: Thrombocytopenia
IAO_0000115: Low platelet count associated with maternal platelet-specific alloantibodies.
has db xref: MSH:D054098
has db xref: SNOMEDCT_US:240305000
has db xref: UMLS:C3853779
has OBO namespace: human_phenotype
id: HP:0004809
type: Class
comment: Neonatal alloimmune thrombocytopenia occurs following fetomaternal transfusions leading to generation of alloreactive antiplatelet antibodies.
subclass of: Thrombocytopenia
notation: HP:0004809

Congenital hypoplastic anemia
tree view: Hypoplastic anemia
IAO_0000115: A type of hypoplastic anemia with congenital onset.
has alternative id: HP:0005545
has db xref: MSH:D000742
has db xref: MSH:D029503
has db xref: SNOMEDCT_US:234371002
has db xref: SNOMEDCT_US:52951008
has db xref: SNOMEDCT_US:88854002
has db xref: UMLS:C0002876
has db xref: UMLS:C1260899
has exact synonym: Congenital dyserythropoietic anemia
has OBO namespace: human_phenotype
id: HP:0004810
type: Class
comment: In this condition, hematopoiesis must have been inadequate in fetal life. Affected infant have marked pallor and reticulocytopenia or absence of red blood cell precursors in an otherwise normally cellular bone marrow. This term does not refer to a particular diagnosis or etiology (or which several are known) but to the phenotypic feature.
subclass of: Hypoplastic anemia
notation: HP:0004810

HP_0004811
IAO_0000231: IAO_0000227
IAO_0100001: Congenital hemolytic anemia
type: Class
deprecated: true
notation: HP:0004811

B Acute Lymphoblastic Leukemia
tree view: HP_0006721
IAO_0000115: A type of ALL characterized by elevated levels of B-cell lymphoblasts in the bone marrow and the blood.
has exact synonym: Pre-B-cell acute lymphoblastic leukemia
has OBO namespace: human_phenotype
id: HP:0004812
type: Class
subclass of: HP_0006721
notation: HP:0004812

Post-transfusion thrombocytopenia
tree view: Thrombocytopenia
IAO_0000115: Sudden onset of thrombocytopenia (reduced platelet count) within 5-10 days of the transfusion of blood products. The clinical presentation is post-transfusion purpura (PTP), wigth severe thrmbocytopenia, epistaxis, and hemorrhages.
has db xref: MSH:C562868
has db xref: SNOMEDCT_US:73162004
has db xref: UMLS:C0398648
has db xref: UMLS:C1868252
has OBO namespace: human_phenotype
has related synonym: Post-transfusion purpura
id: HP:0004813
type: Class
comment: Post-transfusion thrombocytopenia is thought to be related to platelet-specific alloantibody from prior transfusion/pregnancy.
subclass of: Thrombocytopenia
notation: HP:0004813

Fava bean-induced hemolytic anemia
tree view: Hemolytic anemia
IAO_0000115: A kind of hemolytic anemia that is induced by the ingestion of fava beans.
has db xref: UMLS:C4021648
has exact synonym: Hemolytic anemia following ingestion of fava beans
has OBO namespace: human_phenotype
id: HP:0004814
type: Class
comment: Persons with glucose-6-phosphate dehydrogenase (G6PD) deficiency are susceptible to fava bean-induced hemolytic anemia because of the oxidative stress induced by compunds in Fava beans (thought to be vicine and isouramil). The same underlying defect can make affected persons susceptible to hemolysis induced by a number of mediciations.
subclass of: Hemolytic anemia
notation: HP:0004814

HP_0004815
IAO_0000231: IAO_0000227
IAO_0100001: Chronic hemolytic anemia
type: Class
deprecated: true
notation: HP:0004815

HP_0004816
IAO_0000231: IAO_0000227
IAO_0100001: Spherocytosis
type: Class
deprecated: true
notation: HP:0004816

Drug-sensitive hemolytic anemia
tree view: Hemolytic anemia
IAO_0000115: A form of hemolytic anemia that is triggered by ingestion of certain drugs.
has db xref: UMLS:C4025289
has OBO namespace: human_phenotype
id: HP:0004817
type: Class
subclass of: Hemolytic anemia
notation: HP:0004817

Paroxysmal nocturnal hemoglobinuria
tree view: Hemoglobinuria
has db xref: MSH:D006457
has db xref: SNOMEDCT_US:1963002
has db xref: UMLS:C0024790
has exact synonym: Paroxysmal nocturnal haemoglobinuria
has OBO namespace: human_phenotype
id: HP:0004818
type: Class
subclass of: Hemoglobinuria
notation: HP:0004818

Normocytic hypoplastic anemia
tree view: Hypoplastic anemia
IAO_0000115: A type of hypoplastic anemia in which the erythrocytes have a normal cell volume (the mean corpuscular volume is within normal limits).
has db xref: UMLS:C1835875
has OBO namespace: human_phenotype
id: HP:0004819
type: Class
subclass of: Hypoplastic anemia
notation: HP:0004819

Acute myelomonocytic leukemia
tree view: Acute leukemia
tree view: HP_0012324
IAO_0000115: An acute leukemia characterized by the proliferation of both neutrophil and monocyte precursors.
has db xref: MSH:D015479
has db xref: SNOMEDCT_US:110005000
has db xref: SNOMEDCT_US:277601005
has db xref: SNOMEDCT_US:30962008
has db xref: UMLS:C0023479
has OBO namespace: human_phenotype
id: HP:0004820
type: Class
subclass of: Acute leukemia
subclass of: HP_0012324
notation: HP:0004820

Hypersegmentation of neutrophil nuclei
tree view: HP_0011992
IAO_0000115: An excessive division of the lobes of the nucleus of a neutrophil.
has db xref: UMLS:C4025288
has exact synonym: Hypermature neutrophils
has exact synonym: Hypersegmentation of neutrophil nuclei in peripheral blood
has OBO namespace: human_phenotype
id: HP:0004821
type: Class
comment: Neutrophils usually display 3-4 nuclear lobes. Hypersegmented neutrophile nuclei display 5 or more lobes. This feature can be seen in vitamin B12 or folate deficiency or with other etiologies.
subclass of: HP_0011992
notation: HP:0004821

Atypical elliptocytosis
tree view: Elliptocytosis
has db xref: MSH:C565598
has db xref: UMLS:C1857010
has OBO namespace: human_phenotype
id: HP:0004822
type: Class
subclass of: Elliptocytosis
notation: HP:0004822

Anisopoikilocytosis
tree view: Poikilocytosis
IAO_0000115: A type of poikilocytosis characterized by the presence in the blood of erythrocytes of varying sizes and abnormal shapes.
has db xref: UMLS:C2675920
has OBO namespace: human_phenotype
id: HP:0004823
type: Class
subclass of: Poikilocytosis
notation: HP:0004823

HP_0004824
IAO_0000231: IAO_0000227
IAO_0100001: Congenital hemolytic anemia
type: Class
deprecated: true
notation: HP:0004824

Increased hemoglobin oxygen affinity
tree view: HP_0020054
IAO_0000115: An abnormal increase in the binding affinity of hemoglobin for oxygen.
has db xref: UMLS:C4021647
has exact synonym: Increased Hb O2 affinity
has exact synonym: Increased Hb oxygen affinity
has exact synonym: Increased haemoglobin oxygen affinity
has exact synonym: Increased hemoglobin O2 affinity
has OBO namespace: human_phenotype
id: HP:0004825
type: Class
subclass of: HP_0020054
notation: HP:0004825

Folate-unresponsive megaloblastic anemia
tree view: Megaloblastic anemia
IAO_0000115: A type of megaloblastic anemia that does not improve upon administration of folate. Since vitamin B12 acts by promoting recycling of folate, administration of vitamin B12 also does not improve this type of anemia.
has db xref: UMLS:C4025287
has OBO namespace: human_phenotype
id: HP:0004826
type: Class
subclass of: Megaloblastic anemia
notation: HP:0004826

HP_0004827
IAO_0000231: IAO_0000227
IAO_0100001: Hemolytic anemia
type: Class
deprecated: true
notation: HP:0004827

Refractory anemia with ringed sideroblasts
tree view: HP_0012150
IAO_0000115: A type of myelodysplastic syndrome characterized by less than 5% myeloblasts in the bone marrow, but with 15% or greater red cell precursors in the marrow being abnormal iron-stuffed cells called ringed sideroblasts.
has db xref: ICD-O:M9982/3
has db xref: SNOMEDCT_US:109998009
has db xref: SNOMEDCT_US:128846006
has db xref: UMLS:C1264195
has exact synonym: Myelodysplasia with sideroblastosis
has OBO namespace: human_phenotype
id: HP:0004828
type: Class
subclass of: HP_0012150
notation: HP:0004828

HP_0004829
IAO_0000231: IAO_0000227
IAO_0100001: Autoimmune thrombocytopenia
type: Class
deprecated: true
notation: HP:0004829

HP_0004830
IAO_0000231: IAO_0000227
IAO_0100001: Abnormal bleeding
type: Class
deprecated: true
notation: HP:0004830

Recurrent thromboembolism
tree view: Thromboembolism
IAO_0000115: Repeated episodes of obstruction of blood flow due to an embolus, i.e., blood clot that has traveled from its point of origin within the blood stream.
has db xref: UMLS:C0749398
has db xref: UMLS:C4025286
has OBO namespace: human_phenotype
has related synonym: Recurrent thromboembolic disease
id: HP:0004831
type: Class
subclass of: Thromboembolism
notation: HP:0004831

HP_0004832
IAO_0000231: IAO_0000227
IAO_0100001: Myelodysplasia
type: Class
deprecated: true
notation: HP:0004832

HP_0004833
IAO_0000231: IAO_0000227
IAO_0100001: Acute monocytic leukemia
type: Class
deprecated: true
notation: HP:0004833

HP_0004834
IAO_0000231: IAO_0000227
IAO_0100001: Abnormal bleeding
type: Class
deprecated: true
notation: HP:0004834

Microspherocytosis
tree view: Spherocytosis
IAO_0000115: The presence of erythrocytes that are sphere-shaped and reduced in size.
has db xref: UMLS:C4025285
has OBO namespace: human_phenotype
id: HP:0004835
type: Class
subclass of: Spherocytosis
notation: HP:0004835

Acute promyelocytic leukemia
tree view: Acute leukemia
IAO_0000115: A type of acute myeloid leukemia in which abnormal promyelocytes predominate.
has db xref: MSH:D015473
has db xref: SNOMEDCT_US:110004001
has db xref: SNOMEDCT_US:28950004
has db xref: UMLS:C0023487
has OBO namespace: human_phenotype
id: HP:0004836
type: Class
subclass of: Acute leukemia
notation: HP:0004836

HP_0004837
IAO_0000231: IAO_0000227
IAO_0100001: Elliptocytosis
type: Class
deprecated: true
notation: HP:0004837

HP_0004838
IAO_0000231: IAO_0000227
IAO_0100001: Thrombocytopenia
type: Class
deprecated: true
notation: HP:0004838

Pyropoikilocytosis
tree view: Poikilocytosis
IAO_0000115: A form of severe hemolytic anemia characterized by erythrocyte morphology reminiscent of that seen in patients after a thermal burn.
has alternative id: HP:0004805
has db xref: MSH:C563004
has db xref: SNOMEDCT_US:9434008
has db xref: UMLS:C0520739
has exact synonym: hereditary pyropoikilocytosis
has OBO namespace: human_phenotype
id: HP:0004839
type: Class
subclass of: Poikilocytosis
notation: HP:0004839

Hypochromic microcytic anemia
tree view: Hypochromic anemia
tree view: Microcytic anemia
IAO_0000115: A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes and lower than normal size of the erythrocytes.
has alternative id: HP:0004842
has db xref: MSH:C536357
has db xref: SNOMEDCT_US:44666001
has db xref: UMLS:C0271901
has exact synonym: Hypochromic, microcytic anemia
has OBO namespace: human_phenotype
id: HP:0004840
type: Class
subclass of: Hypochromic anemia
subclass of: Microcytic anemia
notation: HP:0004840

Reduced factor XII activity
tree view: HP_0010989
IAO_0000115: Decreased activity of coagulation factor XII. Factor XII (fXII) is part of the intrinsic coagulation pathway and binds to exposed collagen at site of vessel wall injury, activated by high-MW kininogen and kallikrein, thereby initiating the coagulation cascade.
has alternative id: HP:0005514
has alternative id: HP:0005551
has alternative id: HP:0008286
has db xref: MSH:D005175
has db xref: SNOMEDCT_US:46981006
has db xref: UMLS:C0015526
has exact synonym: Factor XII deficiency
has exact synonym: Hageman factor deficiency
has OBO namespace: human_phenotype
id: HP:0004841
type: Class
subclass of: HP_0010989
notation: HP:0004841

HP_0004842
IAO_0000231: IAO_0000227
IAO_0100001: Hypochromic microcytic anemia
type: Class
deprecated: true
notation: HP:0004842

HP_0004843
IAO_0000231: IAO_0000227
IAO_0100001: Acute myeloid leukemia
type: Class
deprecated: true
notation: HP:0004843

Coombs-positive hemolytic anemia
tree view: Hemolytic anemia
IAO_0000115: A type of hemolytic anemia in which the Coombs test is positive.
has alternative id: HP:0003539
has db xref: SNOMEDCT_US:74789008
has db xref: UMLS:C0520736
has exact synonym: Direct Coombs positive
has OBO namespace: human_phenotype
id: HP:0004844
type: Class
comment: The Coombs test measures a coating of immunoglobulin or complement on the red cell surface.
subclass of: Hemolytic anemia
notation: HP:0004844

Acute monocytic leukemia
tree view: Acute leukemia
IAO_0000115: The accumulation of transformed primitive hematopoietic blast cells, which lose their ability of normal differentiation and proliferation.
has alternative id: HP:0004833
has db xref: MSH:D007948
has db xref: SNOMEDCT_US:22331004
has db xref: SNOMEDCT_US:413441006
has db xref: UMLS:C0023465
has exact synonym: AML-M5
has exact synonym: AMoL
has exact synonym: Acute monoblastic leukemia
has OBO namespace: human_phenotype
id: HP:0004845
type: Class
subclass of: Acute leukemia
notation: HP:0004845

Prolonged bleeding after surgery
tree view: HP_0011890
IAO_0000115: Bleeding that persists longer than the normal time following a surgical procedure.
has db xref: UMLS:C4021646
has exact synonym: Excessive bleeding during surgery
has exact synonym: Prolonged bleeding after surgery
has exact synonym: Protracted bleeding after surgery
has OBO namespace: human_phenotype
id: HP:0004846
type: Class
subclass of: HP_0011890
notation: HP:0004846

HP_0004847
IAO_0000231: IAO_0000227
IAO_0100001: Extramedullary hematopoiesis
type: Class
deprecated: true
notation: HP:0004847

Ph-positive acute lymphoblastic leukemia
tree view: HP_0006721
IAO_0000115: A subset of acute lymphoblastic leukemia that results from a reciprocal translocation between the ABL-1 oncogene and a breakpoint cluster region (BCR), resulting in a fusion gene, BCR-ABL, that encodes an oncogenic protein with constitutively active tyrosine kinase activity.
has db xref: SNOMEDCT_US:425688002
has db xref: SNOMEDCT_US:426955004
has db xref: UMLS:C1960397
has exact synonym: Philadelphia-positive acute lymphoblastic leukemia
has OBO namespace: human_phenotype
id: HP:0004848
type: Class
subclass of: HP_0006721
notation: HP:0004848

HP_0004849
IAO_0000231: IAO_0000227
IAO_0100001: Abnormal bleeding
type: Class
deprecated: true
notation: HP:0004849

Recurrent deep vein thrombosis
tree view: Deep venous thrombosis
IAO_0000115: Repeated episodes of the formation of a blot clot in a deep vein.
has db xref: SNOMEDCT_US:710167004
has db xref: UMLS:C1735901
has exact synonym: Recurrent deep vein blood clot
has exact synonym: Recurrent venous thrombosis
has OBO namespace: human_phenotype
id: HP:0004850
type: Class
subclass of: Deep venous thrombosis
notation: HP:0004850

Folate-responsive megaloblastic anemia
tree view: Megaloblastic anemia
IAO_0000115: A type of megaloblastic anemia (i.e., anemia characterized by the presence of erythroblasts that are larger than normal) that improves upon the administration of folate.
has db xref: UMLS:C2749656
has OBO namespace: human_phenotype
id: HP:0004851
type: Class
subclass of: Megaloblastic anemia
notation: HP:0004851

Reduced leukocyte alkaline phosphatase
tree view: Low alkaline phosphatase
IAO_0000115: A decreased alkaline phosphatase activity measured within leukocytes.
has db xref: UMLS:C1850780
has exact synonym: Low leukocyte alkaline phosphatase
has exact synonym: Reduced leukocyte ALP
has OBO namespace: human_phenotype
id: HP:0004852
type: Class
subclass of: Low alkaline phosphatase
notation: HP:0004852

HP_0004853
IAO_0000231: IAO_0000227
IAO_0100001: Hemolytic anemia
type: Class
deprecated: true
notation: HP:0004853

Intermittent thrombocytopenia
tree view: Thrombocytopenia
IAO_0000115: Reduced platelet count that occurs sporadically, i.e., it comes and goes.
has db xref: UMLS:C1839167
has OBO namespace: human_phenotype
id: HP:0004854
type: Class
subclass of: Thrombocytopenia
notation: HP:0004854

Reduced protein S activity
tree view: HP_0030780
IAO_0000115: An abnormality of coagulation related to a decreased concentration of vitamin K-dependent protein S. Protein S is a cofactor of protein C.
has db xref: MSH:D018455
has db xref: SNOMEDCT_US:1563006
has db xref: UMLS:C0242666
has db xref: UMLS:C4025284
has narrow synonym: Protein S deficiency
has OBO namespace: human_phenotype
id: HP:0004855
type: Class
comment: Protein S functions as a cofactor to Protein C in the inactivation of Factors Va and VIIIa in the coagulation pathway. Therefore, a defect in protein S is associated with an increased risk of thrombosis.
subclass of: HP_0030780
notation: HP:0004855

Normochromic microcytic anemia
tree view: Microcytic anemia
IAO_0000115: A type of anemia characterized by an normal concentration of hemoglobin in the erythrocytes and lower than normal size of the erythrocytes.
has db xref: SNOMEDCT_US:4984008
has db xref: UMLS:C0271902
has OBO namespace: human_phenotype
id: HP:0004856
type: Class
subclass of: Microcytic anemia
notation: HP:0004856

Hyperchromic macrocytic anemia
tree view: Macrocytic anemia
IAO_0000115: A type of anemia characterized by abnormally large erythrocytes with abnormally high amounts of haemoglobin.
has db xref: UMLS:C3854594
has OBO namespace: human_phenotype
id: HP:0004857
type: Class
subclass of: Macrocytic anemia
notation: HP:0004857

HP_0004858
IAO_0000231: IAO_0000227
IAO_0100001: Megaloblastic anemia
type: Class
deprecated: true
notation: HP:0004858

Amegakaryocytic thrombocytopenia
tree view: Thrombocytopenia
IAO_0000115: Thrombocytopenia related to lack of or severe reduction in the count of megakaryocytes.
has db xref: SNOMEDCT_US:234482009
has db xref: UMLS:C0398639
has OBO namespace: human_phenotype
id: HP:0004859
type: Class
subclass of: Thrombocytopenia
notation: HP:0004859

Thiamine-responsive megaloblastic anemia
tree view: Megaloblastic anemia
IAO_0000115: A type of megaloblastic anemia (i.e., anemia characterized by the presence of erythroblasts that are larger than normal) that improves upon the administration of thiamine.
has db xref: SNOMEDCT_US:12907000
has db xref: UMLS:C0271972
has OBO namespace: human_phenotype
id: HP:0004860
type: Class
subclass of: Megaloblastic anemia
notation: HP:0004860

Refractory macrocytic anemia
tree view: Macrocytic anemia
has db xref: UMLS:C2675059
has OBO namespace: human_phenotype
id: HP:0004861
type: Class
subclass of: Macrocytic anemia
notation: HP:0004861

HP_0004862
IAO_0000231: IAO_0000227
IAO_0100001: Abnormal bleeding
type: Class
deprecated: true
notation: HP:0004862

Compensated hemolytic anemia
tree view: Hemolytic anemia
has db xref: UMLS:C4025283
has OBO namespace: human_phenotype
id: HP:0004863
type: Class
subclass of: Hemolytic anemia
notation: HP:0004863

Refractory sideroblastic anemia
tree view: Sideroblastic anemia
IAO_0000115: A type of sideroblastic anemia that is not responsive to treatment.
has db xref: MSH:D000756
has db xref: SNOMEDCT_US:41841004
has db xref: UMLS:C0002896
has OBO namespace: human_phenotype
id: HP:0004864
type: Class
subclass of: Sideroblastic anemia
notation: HP:0004864

HP_0004865
IAO_0000231: IAO_0000227
IAO_0100001: Abnormal bleeding
type: Class
deprecated: true
notation: HP:0004865

Impaired ADP-induced platelet aggregation
tree view: Impaired platelet aggregation
IAO_0000115: Abnormal platelet response to ADP as manifested by reduced or lacking aggregation of platelets upon addition of ADP.
has db xref: UMLS:C4025282
has OBO namespace: human_phenotype
id: HP:0004866
type: Class
subclass of: Impaired platelet aggregation
notation: HP:0004866

HP_0004867
IAO_0000231: IAO_0000227
IAO_0100001: HP_0005527
type: Class
deprecated: true
notation: HP:0004867

HP_0004868
IAO_0000231: IAO_0000227
IAO_0100001: Hemolytic anemia
type: Class
deprecated: true
notation: HP:0004868

HP_0004869
IAO_0000231: IAO_0000227
IAO_0100001: Congenital thrombocytopenia
type: Class
deprecated: true
notation: HP:0004869

Chronic hemolytic anemia
tree view: Hemolytic anemia
IAO_0000115: An chronic form of hemolytic anemia.
has alternative id: HP:0004815
has db xref: SNOMEDCT_US:707480001
has db xref: UMLS:C1387532
has exact synonym: hemolytic anemia, chronic
has OBO namespace: human_phenotype
id: HP:0004870
type: Class
subclass of: Hemolytic anemia
notation: HP:0004870

Perineal fistula
tree view: HP_0100589
IAO_0000115: The presence of a fistula between the bowel and the perineum.
has db xref: SNOMEDCT_US:284077005
has db xref: UMLS:C0561921
has OBO namespace: human_phenotype
id: HP:0004871
type: Class
comment: The perineum is the diamond-shaped region of the body between the pubic arch and the anus.
subclass of: HP_0100589
notation: HP:0004871

Incisional hernia
tree view: Hernia of the abdominal wall
IAO_0000115: An abdominal hernia that occurs at a site of weakness in the abdominal wall resulting from an incompletely-healed surgical wound.
has db xref: MSH:D000069290
has db xref: SNOMEDCT_US:236037000
has db xref: SNOMEDCT_US:241556001
has db xref: UMLS:C0267716
has db xref: UMLS:C4021645
has exact synonym: Recurrent abdominal hernia
has OBO namespace: human_phenotype
id: HP:0004872
type: Class
subclass of: Hernia of the abdominal wall
notation: HP:0004872

HP_0004873
IAO_0000231: IAO_0000227
IAO_0100001: HP_0009023
type: Class
deprecated: true
notation: HP:0004873

HP_0004874
IAO_0000231: IAO_0000227
IAO_0100001: Hypotrichosis
type: Class
deprecated: true
notation: HP:0004874

Neonatal inspiratory stridor
tree view: Neonatal respiratory distress
tree view: HP_0005348
has db xref: UMLS:C4025281
has OBO namespace: human_phenotype
id: HP:0004875
type: Class
subclass of: Neonatal respiratory distress
subclass of: HP_0005348
notation: HP:0004875

Spontaneous neonatal pneumothorax
tree view: Spontaneous pneumothorax
IAO_0000115: Pneumothorax occurring neonatally without traumatic injury to the chest or lung.
has db xref: UMLS:C1857021
has exact synonym: Neonatal pneumothorax
has OBO namespace: human_phenotype
id: HP:0004876
type: Class
subclass of: Spontaneous pneumothorax
notation: HP:0004876

HP_0004877
IAO_0000231: IAO_0000227
IAO_0100001: Respiratory failure
type: Class
deprecated: true
notation: HP:0004877

Intercostal muscle weakness
tree view: Abnormality of the thorax
tree view: Muscle weakness
tree view: Respiratory insufficiency
IAO_0000115: Lack of strength of the intercostal muscles, i.e., of the muscle groups running along the ribs that create and move the chest wall.
has db xref: UMLS:C0240017
has exact synonym: Muscle weakness between ribs
has OBO namespace: human_phenotype
id: HP:0004878
type: Class
subclass of: Abnormality of the thorax
subclass of: Muscle weakness
subclass of: Respiratory insufficiency
notation: HP:0004878

Intermittent hyperventilation
tree view: Hyperventilation
IAO_0000115: Episodic hyperventilation.
has db xref: SNOMEDCT_US:423427003
has db xref: UMLS:C1828017
has exact synonym: Episodic hyperventilation
has exact synonym: Intermittent overbreathing
has OBO namespace: human_phenotype
id: HP:0004879
type: Class
subclass of: Hyperventilation
notation: HP:0004879

Respiratory infections in early life
tree view: Recurrent respiratory infections
IAO_0000115: Increased susceptibility to respiratory infections in early life, as manifested by recurrent episodes of respiratory infections.
has db xref: UMLS:C4025280
has OBO namespace: human_phenotype
id: HP:0004880
type: Class
subclass of: Recurrent respiratory infections
notation: HP:0004880

Episodic hypoventilation
tree view: Hypoventilation
has db xref: UMLS:C1844946
has exact synonym: Episodic slow breathing
has exact synonym: Episodic under breathing
has OBO namespace: human_phenotype
id: HP:0004881
type: Class
subclass of: Hypoventilation
notation: HP:0004881

HP_0004882
IAO_0000231: IAO_0000227
IAO_0100001: Respiratory insufficiency due to muscle weakness
type: Class
deprecated: true
notation: HP:0004882

HP_0004883
IAO_0000231: IAO_0000227
IAO_0100001: Respiratory failure requiring assisted ventilation
type: Class
deprecated: true
notation: HP:0004883

HP_0004884
IAO_0000231: IAO_0000227
IAO_0100001: Recurrent lower respiratory tract infections
type: Class
deprecated: true
notation: HP:0004884

Episodic respiratory distress
tree view: Respiratory distress
has db xref: UMLS:C1844945
has exact synonym: Episodic difficulty breathing
has exact synonym: respiratory distress, episodic
has OBO namespace: human_phenotype
id: HP:0004885
type: Class
subclass of: Respiratory distress
notation: HP:0004885

Congenital laryngeal stridor
tree view: HP_0005348
has db xref: SNOMEDCT_US:55490007
has db xref: UMLS:C0265763
has OBO namespace: human_phenotype
id: HP:0004886
type: Class
subclass of: HP_0005348
notation: HP:0004886

Respiratory failure requiring assisted ventilation
tree view: Respiratory insufficiency
IAO_0000115: A state of respiratory distress that requires a life saving intervention in the form of gaining airway access and instituting positive pressure ventilation.
has alternative id: HP:0004883
has db xref: UMLS:C4025279
has exact synonym: Respiratory distress necessitating mechanical ventilation
has exact synonym: Respiratory distress requiring endotracheal intubation
has exact synonym: Respiratory distress requiring mechanical ventilation
has OBO namespace: human_phenotype
id: HP:0004887
type: Class
subclass of: Respiratory insufficiency
notation: HP:0004887

HP_0004888
IAO_0000231: IAO_0000227
IAO_0100001: Respiratory insufficiency due to muscle weakness
type: Class
deprecated: true
notation: HP:0004888

Intermittent episodes of respiratory insufficiency due to muscle weakness
tree view: Respiratory insufficiency due to muscle weakness
has db xref: UMLS:C3807025
has OBO namespace: human_phenotype
id: HP:0004889
type: Class
subclass of: Respiratory insufficiency due to muscle weakness
notation: HP:0004889

Elevated pulmonary artery pressure
tree view: HP_0030875
IAO_0000115: An abnormally elevated blood pressure in the circulation of the pulmonary artery.
has alternative id: HP:0004958
has db xref: UMLS:C3805917
has exact synonym: Elevated lung artery pressure
has exact synonym: increased pulmonary artery pressure
has OBO namespace: human_phenotype
id: HP:0004890
type: Class
subclass of: HP_0030875
notation: HP:0004890

Recurrent infections due to aspiration
tree view: Recurrent respiratory infections
IAO_0000115: Increased susceptibility to infections due to aspiration, as manifested by recurrent episodes of infections due to aspiration.
has db xref: UMLS:C3806285
has OBO namespace: human_phenotype
id: HP:0004891
type: Class
subclass of: Recurrent respiratory infections
notation: HP:0004891

HP_0004892
IAO_0000231: IAO_0000227
IAO_0100001: Hypoventilation
type: Class
deprecated: true
notation: HP:0004892

HP_0004893
IAO_0000231: IAO_0000227
IAO_0100001: Respiratory insufficiency
type: Class
deprecated: true
notation: HP:0004893

Laryngotracheal stenosis
tree view: Laryngeal stenosis
tree view: Tracheal stenosis
has db xref: UMLS:C3806280
has OBO namespace: human_phenotype
id: HP:0004894
type: Class
subclass of: Laryngeal stenosis
subclass of: Tracheal stenosis
notation: HP:0004894

HP_0004895
IAO_0000231: IAO_0000227
IAO_0100001: Metabolic acidosis
type: Class
deprecated: true
notation: HP:0004895

HP_0004896
IAO_0000231: IAO_0000227
IAO_0100001: Malignant hyperthermia
type: Class
deprecated: true
notation: HP:0004896

Stress/infection-induced lactic acidosis
tree view: Lactic acidosis
IAO_0000115: A form of lactic acidemia that occurs in relation to stress or infection.
has db xref: UMLS:C4025278
has OBO namespace: human_phenotype
id: HP:0004897
type: Class
subclass of: Lactic acidosis
notation: HP:0004897

Persistent lactic acidosis
tree view: Lactic acidosis
IAO_0000115: A continuous form of lactic acidemia.
has db xref: UMLS:C3554538
has OBO namespace: human_phenotype
id: HP:0004898
type: Class
subclass of: Lactic acidosis
notation: HP:0004898

HP_0004899
IAO_0000231: IAO_0000227
IAO_0100001: Chronic lactic acidosis
type: Class
deprecated: true
notation: HP:0004899

Severe lactic acidosis
tree view: Lactic acidosis
IAO_0000115: A severe form of lactic acidemia.
has db xref: UMLS:C1839436
has OBO namespace: human_phenotype
id: HP:0004900
type: Class
subclass of: Lactic acidosis
notation: HP:0004900

Exercise-induced lactic acidemia
tree view: Lactic acidosis
IAO_0000115: A form of lactic acidemia that occurs following exercise or exertion.
has db xref: UMLS:C4025277
has exact synonym: Exercise-induced lactic acidosis
has OBO namespace: human_phenotype
id: HP:0004901
type: Class
subclass of: Lactic acidosis
notation: HP:0004901

Congenital lactic acidosis
tree view: Lactic acidosis
IAO_0000115: A form of lactic acidemia with congenital onset.
has db xref: UMLS:C4025276
has OBO namespace: human_phenotype
id: HP:0004902
type: Class
subclass of: Lactic acidosis
notation: HP:0004902

HP_0004903
IAO_0000231: IAO_0000227
IAO_0100001: Recurrent fever
type: Class
deprecated: true
notation: HP:0004903

Maturity-onset diabetes of the young
tree view: Diabetes mellitus
IAO_0000115: The term Maturity-onset diabetes of the young (MODY) was initially used for patients diagnosed with fasting hyperglycemia that could be treated without insulin for more than two years, where the initial diagnosis was made at a young age (under 25 years). Thus, MODY combines characteristics of type 1 diabetes (young age at diagnosis) and type 2 diabetes (less insulin dependence than type 1 diabetes). The term MODY is now most often used to refer to a group of monogenic diseases with these characteristics. Here, the term is used to describe hyperglycemia diagnosed at a young age with no or minor insulin dependency, no evidence of insulin resistence, and lack of evidence of autoimmune destruction of the beta cells.
has db xref: MSH:C562772
has db xref: SNOMEDCT_US:609561005
has db xref: UMLS:C0342276
has exact synonym: Maturity onset diabetes of the young
has OBO namespace: human_phenotype
has related synonym: MODY
id: HP:0004904
type: Class
subclass of: Diabetes mellitus
notation: HP:0004904

Vitamin A deficiency
tree view: HP_0008372
has db xref: MSH:D014802
has db xref: SNOMEDCT_US:72000004
has db xref: UMLS:C0042842
has OBO namespace: human_phenotype
id: HP:0004905
type: Class
subclass of: HP_0008372
notation: HP:0004905

Hypernatremic dehydration
tree view: Hypertonic dehydration
has db xref: SNOMEDCT_US:427784006
has db xref: UMLS:C1850544
has OBO namespace: human_phenotype
id: HP:0004906
type: Class
subclass of: Hypertonic dehydration
notation: HP:0004906

HP_0004907
IAO_0000231: IAO_0000227
IAO_0100001: Metabolic acidosis
type: Class
deprecated: true
notation: HP:0004907

HP_0004908
IAO_0000231: IAO_0000227
IAO_0100001: Diabetes mellitus
type: Class
deprecated: true
notation: HP:0004908

Hypokalemic hypochloremic metabolic alkalosis
tree view: Hypokalemic metabolic alkalosis
tree view: HP_0005977
has db xref: UMLS:C0740896
has OBO namespace: human_phenotype
id: HP:0004909
type: Class
subclass of: Hypokalemic metabolic alkalosis
subclass of: HP_0005977
notation: HP:0004909

Bicarbonate-wasting renal tubular acidosis
tree view: Renal tubular acidosis
has db xref: UMLS:C1858626
has exact synonym: HCO3-wasting renal tubular acidosis
has exact synonym: Renal bicarbonate wasting
has OBO namespace: human_phenotype
id: HP:0004910
type: Class
subclass of: Renal tubular acidosis
notation: HP:0004910

Episodic metabolic acidosis
tree view: Metabolic acidosis
IAO_0000115: Repeated transient episodes of metabolic acidosis, that is, of the buildup of acid or depletion of base due to accumulation of metabolic acids.
has alternative id: HP:0005963
has db xref: UMLS:C1859516
has exact synonym: Recurrent episodes of acidosis
has OBO namespace: human_phenotype
id: HP:0004911
type: Class
subclass of: Metabolic acidosis
notation: HP:0004911

Hypophosphatemic rickets
tree view: Hypophosphatemia
tree view: Rickets
has db xref: MSH:D063730
has db xref: SNOMEDCT_US:66266003
has db xref: UMLS:C1704375
has OBO namespace: human_phenotype
id: HP:0004912
type: Class
subclass of: Hypophosphatemia
subclass of: Rickets
notation: HP:0004912

Intermittent lactic acidemia
tree view: Lactic acidosis
IAO_0000115: An intermittent (discontinuous) form of lactic acidemia.
has db xref: UMLS:C1844917
has OBO namespace: human_phenotype
id: HP:0004913
type: Class
subclass of: Lactic acidosis
notation: HP:0004913

Recurrent infantile hypoglycemia
tree view: Recurrent hypoglycemia
IAO_0000115: Recurrent episodes of decreased concentration of glucose in the blood occurring during the infantile period.
has alternative id: HP:0004917
has db xref: UMLS:C4021644
has exact synonym: Episodic infantile hypoglycemia
has exact synonym: Recurrent low blood sugar in infant
has OBO namespace: human_phenotype
id: HP:0004914
type: Class
subclass of: Recurrent hypoglycemia
notation: HP:0004914

Impairment of galactose metabolism
tree view: HP_0032245
IAO_0000115: An impairment of galactose metabolism.
has db xref: UMLS:C4021643
has exact synonym: Impaired galactose metabolism
has OBO namespace: human_phenotype
id: HP:0004915
type: Class
subclass of: HP_0032245
notation: HP:0004915

Generalized distal tubular acidosis
tree view: HP_0008341
has db xref: UMLS:C4025275
has OBO namespace: human_phenotype
id: HP:0004916
type: Class
subclass of: HP_0008341
notation: HP:0004916

HP_0004917
IAO_0000231: IAO_0000227
IAO_0100001: Recurrent infantile hypoglycemia
type: Class
deprecated: true
notation: HP:0004917

Hyperchloremic metabolic acidosis
tree view: Hyperchloremic acidosis
has db xref: UMLS:C1969073
has OBO namespace: human_phenotype
id: HP:0004918
type: Class
subclass of: Hyperchloremic acidosis
notation: HP:0004918

Galactose intolerance
tree view: Impairment of galactose metabolism
has db xref: MSH:D005693
has db xref: SNOMEDCT_US:190745006
has db xref: SNOMEDCT_US:190749000
has db xref: UMLS:C0016952
has OBO namespace: human_phenotype
id: HP:0004919
type: Class
subclass of: Impairment of galactose metabolism
notation: HP:0004919

Phenylpyruvic acidemia
tree view: HP_0032368
has db xref: UMLS:C1849926
has OBO namespace: human_phenotype
id: HP:0004920
type: Class
subclass of: HP_0032368
notation: HP:0004920

Abnormal magnesium concentration
tree view: HP_0010927
IAO_0000115: An abnormality of magnesium ion homeostasis.
has alternative id: HP:0008274
has db xref: UMLS:C4020826
has db xref: UMLS:C4025274
has exact synonym: Abnormal Mg concentration
has exact synonym: Abnormality of magnesium homeostasis
has OBO namespace: human_phenotype
has related synonym: Abnormal magnesium metabolism
id: HP:0004921
type: Class
subclass of: HP_0010927
notation: HP:0004921

Atypical hyperphenylalaninemia
tree view: HP_0010893
has db xref: UMLS:C4025273
has OBO namespace: human_phenotype
id: HP:0004922
type: Class
subclass of: HP_0010893
notation: HP:0004922

Hyperphenylalaninemia
tree view: HP_0010893
IAO_0000115: An increased concentration of L-phenylalanine in the blood.
has db xref: MSH:D010661
has db xref: SNOMEDCT_US:68528007
has db xref: UMLS:C0751435
has OBO namespace: human_phenotype
id: HP:0004923
type: Class
subclass of: HP_0010893
notation: HP:0004923

Abnormal oral glucose tolerance
tree view: HP_0040270
IAO_0000115: An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral administration of glucose.
has db xref: UMLS:C1847425
has exact synonym: Abnormal glucose oral tolerance test
has OBO namespace: human_phenotype
id: HP:0004924
type: Class
subclass of: HP_0040270
notation: HP:0004924

Chronic lactic acidosis
tree view: Lactic acidosis
tree view: HP_0012468
IAO_0000115: A chronic form of lactic acidemia.
has alternative id: HP:0004899
has db xref: UMLS:C1839437
has OBO namespace: human_phenotype
id: HP:0004925
type: Class
subclass of: Lactic acidosis
subclass of: HP_0012468
notation: HP:0004925

Orthostatic hypotension due to autonomic dysfunction
tree view: Orthostatic hypotension
has db xref: UMLS:C1868528
has OBO namespace: human_phenotype
id: HP:0004926
type: Class
subclass of: Orthostatic hypotension
notation: HP:0004926

Pulmonary artery dilatation
tree view: HP_0030966
IAO_0000115: An abnormal widening of the diameter of the pulmonary artery.
has db xref: SNOMEDCT_US:251047005
has db xref: UMLS:C0428851
has OBO namespace: human_phenotype
id: HP:0004927
type: Class
subclass of: HP_0030966
notation: HP:0004927

obsolete Peripheral arterial stenosis
IAO_0000231: IAO_0000227
IAO_0100001: Peripheral arterial stenosis
IAO_0100001: HP:0004950
has OBO namespace: human_phenotype
id: HP:0004928
type: Class
deprecated: true
notation: HP:0004928

obsolete Coronary atherosclerosis
IAO_0000231: IAO_0000227
IAO_0100001: Coronary artery atherosclerosis
IAO_0100001: HP:0001677
has OBO namespace: human_phenotype
id: HP:0004929
type: Class
deprecated: true
notation: HP:0004929

Abnormality of the pulmonary vasculature
tree view: Abnormal lung morphology
tree view: Abnormality of the vasculature
created by: peter
creation date: 2008-03-26T04:07:00Z
has db xref: UMLS:C4025271
has exact synonym: Abnormality of the lung blood vessels
has OBO namespace: human_phenotype
id: HP:0004930
type: Class
subclass of: Abnormal lung morphology
subclass of: Abnormality of the vasculature
notation: HP:0004930

Arteriosclerosis of small cerebral arteries
tree view: Arteriosclerosis
tree view: HP_0009145
IAO_0000115: Arteriosclerosis (increased thickness, increased stiffness, loss of elasticity) of the small arteries of the brain.
has broad synonym: Hardened artery wall in small cerebral arteries
has db xref: UMLS:C4025270
has db xref: UMLS:C4280505
has OBO namespace: human_phenotype
id: HP:0004931
type: Class
subclass of: Arteriosclerosis
subclass of: HP_0009145
notation: HP:0004931

HP_0004932
IAO_0000231: IAO_0000227
IAO_0100001: Orthostatic hypotension
type: Class
deprecated: true
notation: HP:0004932

Ascending aortic dissection
tree view: Aortic dissection
tree view: HP_0031784
IAO_0000115: A separation of the layers within the wall of the ascending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space.
has db xref: UMLS:C1836653
has exact synonym: Type A aortic dissection
has OBO namespace: human_phenotype
id: HP:0004933
type: Class
comment: According to the Stanford classification, type A aortic dissection affects the ascending aorta and arch.
subclass of: Aortic dissection
subclass of: HP_0031784
notation: HP:0004933

Vascular calcification
tree view: HP_0011915
tree view: HP_0025015
IAO_0000115: Abnormal calcification of the vasculature.
has db xref: MSH:D061205
has db xref: SNOMEDCT_US:237897009
has db xref: UMLS:C0342649
has OBO namespace: human_phenotype
id: HP:0004934
type: Class
subclass of: HP_0011915
subclass of: HP_0025015
notation: HP:0004934

Pulmonary artery atresia
tree view: HP_0030966
IAO_0000115: A congenital anomaly with a narrowing or complete absence of the opening between the right ventricle and the pulmonary artery.
has db xref: SNOMEDCT_US:10930001
has db xref: SNOMEDCT_US:204443008
has db xref: UMLS:C0265908
has exact synonym: Pulmonary atresia
has OBO namespace: human_phenotype
id: HP:0004935
type: Class
comment: Pulmonary artery atresia means that unoxygenated blood in the right ventricle can not be effectively pumped into the lung for oxygenation.
subclass of: HP_0030966
notation: HP:0004935

Venous thrombosis
tree view: Abnormal thrombosis
IAO_0000115: Formation of a blood clot (thrombus) inside a vein, causing the obstruction of blood flow.
has db xref: MSH:D020246
has db xref: SNOMEDCT_US:111293003
has db xref: UMLS:C0042487
has exact synonym: Blood clot in vein
has OBO namespace: human_phenotype
id: HP:0004936
type: Class
subclass of: Abnormal thrombosis
notation: HP:0004936

Pulmonary artery aneurysm
tree view: Pulmonary artery dilatation
IAO_0000115: An aneurysm (severe localized balloon-like outward bulging) in the pulmonary artery.
has db xref: SNOMEDCT_US:194892009
has db xref: UMLS:C0155676
has OBO namespace: human_phenotype
id: HP:0004937
type: Class
subclass of: Pulmonary artery dilatation
notation: HP:0004937

Tortuous cerebral arteries
tree view: HP_0005116
tree view: HP_0009145
IAO_0000115: Excessive bending, twisting, and winding of a cerebral artery.
has db xref: UMLS:C1836791
has exact synonym: Twisted cerebral arteries
has OBO namespace: human_phenotype
id: HP:0004938
type: Class
subclass of: HP_0005116
subclass of: HP_0009145
notation: HP:0004938

HP_0004939
IAO_0000231: IAO_0000227
IAO_0100001: Pulmonary arterial medial hypertrophy
type: Class
deprecated: true
notation: HP:0004939

Generalized arterial calcification
tree view: Arterial calcification
IAO_0000115: Calcification, that is, pathological deposition of calcium salts, affecting arteries distributed throughout the body.
has alternative id: HP:0004967
has db xref: UMLS:C4025269
has OBO namespace: human_phenotype
id: HP:0004940
type: Class
subclass of: Arterial calcification
notation: HP:0004940

Extrahepatic portal hypertension
tree view: Portal hypertension
IAO_0000115: Increased pressure in the pre-hepatic portal vein.
editor notes: previous def: 'has part' some ('increased pressure' and ('inheres in' some ('arterial blood' and ('part of' some 'Pre-hepatic portal vein (adult human)'))) and ('has modifier' some abnormal))
has db xref: UMLS:C4025268
has OBO namespace: human_phenotype
id: HP:0004941
type: Class
comment: Hypertension in the portal venous tree proper.
subclass of: Portal hypertension
notation: HP:0004941

Aortic aneurysm
tree view: Abnormal aortic morphology
tree view: Dilatation
IAO_0000115: Aortic dilatation refers to a dimension that is greater than the 95th percentile for the normal person age, sex and body size. In contrast, an aneurysm is defined as a localized dilation of the aorta that is more than 150 percent of predicted (ratio of observed to expected diameter 1.5 or more). Aneurysm should be distinguished from ectasia, which represents a diffuse dilation of the aorta less than 50 percent of normal aorta diameter.
has alternative id: HP:0001724
has db xref: Fyler:2301
has db xref: Fyler:2708
has db xref: MSH:D001014
has db xref: SNOMEDCT_US:67362008
has db xref: UMLS:C0003486
has exact synonym: Aortic dilatation
has exact synonym: Bulge in wall of large artery that carries blood away from heart
has OBO namespace: human_phenotype
id: HP:0004942
type: Class
comment: Aneurysm is considered a severe (pathological) form of dilatation of a segment of a blood vessel. In clinical practice, dilatation and aneurysm are occasionally used interchangably. In this subhierarchy, we therefore use aneurysm as the primary label and list dilatation as a broad synonym.
subclass of: Abnormal aortic morphology
subclass of: Dilatation
notation: HP:0004942

Accelerated atherosclerosis
tree view: Atherosclerosis
IAO_0000115: Atherosclerosis which occurs in a person with certain risk factors (e.g., SLE, diabetes, smoking, hypertension, hypercholesterolaemia, family history of early heart disease) at an earlier age than would occur in another person without those risk factors.
has broad synonym: Accelerated plaque build-up in arteries
has db xref: UMLS:C1849618
has db xref: UMLS:C4280504
has OBO namespace: human_phenotype
id: HP:0004943
type: Class
subclass of: Atherosclerosis
notation: HP:0004943

Dilatation of the cerebral artery
tree view: Dilatation
tree view: HP_0009145
IAO_0000115: The presence of a localized dilatation or ballooning of a cerebral artery.
has alternative id: HP:0002618
has alternative id: HP:0006816
has broad synonym: Brain aneurysm
has broad synonym: Intracranial aneurysm
has db xref: MSH:D002532
has db xref: SNOMEDCT_US:128608001
has db xref: UMLS:C0751003
has db xref: UMLS:C1290398
has narrow synonym: Cerebral aneurysm
has narrow synonym: Cerebral artery aneurysm
has OBO namespace: human_phenotype
id: HP:0004944
type: Class
comment: Aneurysm is considered a severe form of dilatation.
subclass of: Dilatation
subclass of: HP_0009145
notation: HP:0004944

Extracranial internal carotid artery dissection
tree view: HP_0005294
tree view: HP_0012159
IAO_0000115: A separation (dissection) of the layers of the extracranial portion of the internal carotid artery wall.
has db xref: UMLS:C4025267
has OBO namespace: human_phenotype
id: HP:0004945
type: Class
subclass of: HP_0005294
subclass of: HP_0012159
notation: HP:0004945

HP_0004946
IAO_0000231: IAO_0000227
IAO_0100001: Arteriovenous fistula
type: Class
deprecated: true
notation: HP:0004946

Arteriovenous fistula
tree view: HP_0100026
IAO_0000115: An abnormal connection between an artery and vein.
has alternative id: HP:0004946
has db xref: MSH:D001164
has db xref: SNOMEDCT_US:128617001
has db xref: SNOMEDCT_US:439470001
has db xref: UMLS:C0003855
has exact synonym: Arteriovenous fistulas
has OBO namespace: human_phenotype
id: HP:0004947
type: Class
subclass of: HP_0100026
notation: HP:0004947

Vascular tortuosity
tree view: HP_0025015
IAO_0000115: Abnormal twisting of arteries or veins.
has db xref: UMLS:C2673776
has exact synonym: Twisted blood vessels
has OBO namespace: human_phenotype
id: HP:0004948
type: Class
subclass of: HP_0025015
notation: HP:0004948

HP_0004949
IAO_0000231: IAO_0000227
IAO_0100001: Hypertension
type: Class
deprecated: true
notation: HP:0004949

Peripheral arterial stenosis
tree view: HP_0100545
IAO_0000115: Narrowing of peripheral arteries with reduction of blood flow to the limbs. This feature may be quantified as an ankle-brachial index of less than 0.9, and may be manifested clinically as claudication.
has alternative id: HP:0004928
has alternative id: HP:0004973
has alternative id: HP:0005296
has alternative id: HP:0005299
has alternative id: HP:0005309
has alternative id: HP:0005315
has alternative id: HP:0005794
has db xref: MSH:D016491
has db xref: MSH:D058729
has db xref: SNOMEDCT_US:399957001
has db xref: SNOMEDCT_US:400047006
has db xref: UMLS:C0085096
has db xref: UMLS:C1704436
has exact synonym: Peripheral artery disease
has OBO namespace: human_phenotype
has related synonym: Arterial disease of legs
has related synonym: Occlusive arterial disease
has related synonym: Occlusive vascular disease
has related synonym: Peripheral artery occlusive disease
has related synonym: Peripheral vascular disease
id: HP:0004950
type: Class
comment: The ankle-brachial index (ABI; the ratio of systolic blood pressure in the ankle to that in the arm), is a measure of occlusion of peripheral arteries in the leg. Peripheral arterial stenosis may be observed with atherosclerosis and with increased intima media thickness as seen in diseases such as pseudoxanthoma elasticum. The most common cause of peripheral arterial stenosis in patients over 40 years of age is atherosclerosis. Cerebral and coronary arteries are by definition not included in peripheral artery disease.
subclass of: HP_0100545
notation: HP:0004950

HP_0004951
IAO_0000231: IAO_0000227
IAO_0100001: Hypoplasia of right ventricle
type: Class
deprecated: true
notation: HP:0004951

Pulmonary arteriovenous fistulas
tree view: Arteriovenous fistula
IAO_0000115: A rare vascular anomaly with a direct communication between pulmonary artery and pulmonary vein without an intervening capillary bed.
has db xref: MSH:C562404
has db xref: SNOMEDCT_US:111289009
has db xref: UMLS:C0155675
has OBO namespace: human_phenotype
id: HP:0004952
type: Class
subclass of: Arteriovenous fistula
notation: HP:0004952

obsolete Dilatation of abdominal aorta
IAO_0000231: IAO_0000227
IAO_0100001: HP_0005112
IAO_0100001: HP:0005112
has OBO namespace: human_phenotype
id: HP:0004953
type: Class
deprecated: true
notation: HP:0004953

obsolete Dilatation of the descending aorta
IAO_0000231: IAO_0000227
IAO_0100001: Descending thoracic aorta aneurysm
IAO_0100001: HP:0004959
has OBO namespace: human_phenotype
id: HP:0004954
type: Class
deprecated: true
notation: HP:0004954

Generalized arterial tortuosity
tree view: HP_0005116
IAO_0000115: Abnormal tortuous (i.e., twisted) form of arteries affecting most or all arteries.
has db xref: UMLS:C1836651
has db xref: UMLS:C3279191
has exact synonym: Generalized twisted arteries
has OBO namespace: human_phenotype
has related synonym: Arterial tortuosity, general
has related synonym: Arterial tortuosity, generalized
id: HP:0004955
type: Class
subclass of: HP_0005116
notation: HP:0004955

HP_0004956
IAO_0000231: IAO_0000227
IAO_0100001: Elevated systolic blood pressure
type: Class
deprecated: true
notation: HP:0004956

HP_0004957
IAO_0000231: IAO_0000227
IAO_0100001: Peripheral pulmonary artery stenosis
type: Class
deprecated: true
notation: HP:0004957

HP_0004958
IAO_0000231: IAO_0000227
IAO_0100001: Elevated pulmonary artery pressure
type: Class
deprecated: true
notation: HP:0004958

Descending thoracic aorta aneurysm
tree view: HP_0012727
IAO_0000115: An abnormal localized widening (dilatation) of the descending thoracic aorta.
created by: peter
creation date: 2008-03-25T06:32:00Z
has alternative id: HP:0004954
has broad synonym: Dilatation of the descending thoracic aorta
has db xref: Fyler:2754
has db xref: UMLS:C4025266
has OBO namespace: human_phenotype
id: HP:0004959
type: Class
subclass of: HP_0012727
notation: HP:0004959

Absent pulmonary artery
tree view: HP_0030966
IAO_0000115: A congenital defect with aplasia (absence) of one of the right or left pulmonary artery.
has db xref: SNOMEDCT_US:86252004
has db xref: UMLS:C0265905
has exact synonym: Absent lung artery
has exact synonym: Missing pulmonary artery
has OBO namespace: human_phenotype
id: HP:0004960
type: Class
comment: This is a rare feature that has been observed in recessive lethal osteogenesis imperfecta with mutation in CRTAP.
subclass of: HP_0030966
notation: HP:0004960

Pulmonary artery sling
tree view: HP_0030966
IAO_0000115: An anomalous origin of the left pulmonary artery, such that it arises from the posterior aspect of the right pulmonary artery and passes between the trachea and esophagus to reach the left hilum.
has db xref: UMLS:C1856123
has OBO namespace: human_phenotype
id: HP:0004961
type: Class
subclass of: HP_0030966
notation: HP:0004961

Thoracic aorta calcification
tree view: Calcification of the aorta
IAO_0000115: An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the thoracic aorta.
has db xref: UMLS:C1969292
has OBO namespace: human_phenotype
id: HP:0004962
type: Class
subclass of: Calcification of the aorta
notation: HP:0004962

Calcification of the aorta
tree view: Abnormal aortic morphology
tree view: Arterial calcification
IAO_0000115: Calcification, that is, pathological deposition of calcium salts in the aorta.
has db xref: UMLS:C1096249
has OBO namespace: human_phenotype
id: HP:0004963
type: Class
comment: Note that the phrase "aortic calcification" is mainly used to describe calcification of the aortic valve rather than of the aorta itself.
subclass of: Abnormal aortic morphology
subclass of: Arterial calcification
notation: HP:0004963

Pulmonary arterial medial hypertrophy
tree view: HP_0030966
IAO_0000115: Increase in mass of the tunica media of the arteries in the pulmonary circulation.
has alternative id: HP:0004939
has db xref: UMLS:C1504382
has exact synonym: Hypertrophy of the pulmonary artery wall
has OBO namespace: human_phenotype
id: HP:0004964
type: Class
subclass of: HP_0030966
notation: HP:0004964

HP_0004965
IAO_0000231: IAO_0000227
IAO_0100001: HP_0005113
type: Class
deprecated: true
notation: HP:0004965

Medial calcification of large arteries
tree view: HP_0012456
IAO_0000115: Calcification, that is, pathological deposition of calcium salts in the tunica media of large (conduit) arteries.
has db xref: UMLS:C4025265
has OBO namespace: human_phenotype
id: HP:0004966
type: Class
subclass of: HP_0012456
notation: HP:0004966

HP_0004967
IAO_0000231: IAO_0000227
IAO_0100001: Generalized arterial calcification
type: Class
deprecated: true
notation: HP:0004967

Recurrent cerebral hemorrhage
tree view: Cerebral hemorrhage
IAO_0000115: Recurrent bleeding into the parenchyma of the brain.
has db xref: UMLS:C4025264
has exact synonym: Recurrent hemorrhagic stroke
has OBO namespace: human_phenotype
id: HP:0004968
type: Class
subclass of: Cerebral hemorrhage
notation: HP:0004968

Peripheral pulmonary artery stenosis
tree view: Pulmonary artery stenosis
IAO_0000115: Stenosis of a peripheral branch of the pulmonary artery.
has alternative id: HP:0004957
has db xref: SNOMEDCT_US:253631001
has db xref: UMLS:C0345030
has exact synonym: Narrowing of peripheral lung artery
has exact synonym: Peripheral pulmonic stenosis
has exact synonym: peripheral pulmonary stenosis
has OBO namespace: human_phenotype
id: HP:0004969
type: Class
subclass of: Pulmonary artery stenosis
notation: HP:0004969

Ascending tubular aorta aneurysm
tree view: HP_0012727
IAO_0000115: An abnormal localized widening (dilatation) of the tubular part of the ascending aorta.
has alternative id: HP:0005111
has alternative id: HP:0005128
has broad synonym: Ascending aorta dilation
has db xref: Fyler:2310
has db xref: Fyler:2701
has db xref: SNOMEDCT_US:253645007
has db xref: UMLS:C0345049
has exact synonym: Aneurysm of the ascending tubular aorta
has exact synonym: Ascending aortic aneurysm
has exact synonym: Ascending aortic dilation
has exact synonym: Bulging of wall of large artery located above heart
has exact synonym: Dilatation of ascending aorta
has OBO namespace: human_phenotype
id: HP:0004970
type: Class
comment: Aneurysm is considered a severe form of dilatation.
subclass of: HP_0012727
notation: HP:0004970

Pulmonary artery hypoplasia
tree view: HP_0030966
IAO_0000115: Underdevelopment of the pulmonary artery.
has db xref: Fyler:2966
has db xref: SNOMEDCT_US:54682008
has db xref: UMLS:C0265910
has exact synonym: Underdeveloped lung artery
has exact synonym: Underdeveloped pulmonary artery
has OBO namespace: human_phenotype
id: HP:0004971
type: Class
subclass of: HP_0030966
notation: HP:0004971

Elevated mean arterial pressure
tree view: HP_0032263
IAO_0000115: An abnormal increase in the average blood pressure in an individual during a single cardiac cycle.
has db xref: UMLS:C1840376
has OBO namespace: human_phenotype
id: HP:0004972
type: Class
subclass of: HP_0032263
notation: HP:0004972

HP_0004973
IAO_0000231: IAO_0000227
IAO_0100001: Peripheral arterial stenosis
type: Class
deprecated: true
notation: HP:0004973

Coarctation of abdominal aorta
tree view: Coarctation of aorta
IAO_0000115: Coarctation of the aorta is a narrowing or constriction of a segment of the abdominal aorta.
has db xref: UMLS:C4025263
has OBO namespace: human_phenotype
id: HP:0004974
type: Class
subclass of: Coarctation of aorta
notation: HP:0004974

Erlenmeyer flask deformity of the femurs
tree view: Abnormality of femur morphology
IAO_0000115: Flaring of distal femur.
has alternative id: HP:0006422
has db xref: UMLS:C1855895
has exact synonym: Erlenmeyer flask deformity of distal femur
has exact synonym: Erlenmeyer flask femora
has exact synonym: Erlenmeyer flask shaped thighbone
has OBO namespace: human_phenotype
id: HP:0004975
type: Class
subclass of: Abnormality of femur morphology
notation: HP:0004975

Knee dislocation
tree view: Abnormality of the knee
tree view: HP_0030311
has alternative id: HP:0006469
has db xref: MSH:D031221
has db xref: SNOMEDCT_US:58320001
has db xref: UMLS:C0159970
has exact synonym: Dislocations of the knees
has exact synonym: Knee dislocations
has OBO namespace: human_phenotype
id: HP:0004976
type: Class
subclass of: Abnormality of the knee
subclass of: HP_0030311
notation: HP:0004976

Bilateral radial aplasia
tree view: Absent radius
IAO_0000115: Missing radius bone on both sides associated with congenital failure of development.
has alternative id: HP:0005870
has db xref: UMLS:C1848840
has exact synonym: Bilateral absence of radius
has OBO namespace: human_phenotype
id: HP:0004977
type: Class
subclass of: Absent radius
notation: HP:0004977

HP_0004978
IAO_0000231: IAO_0000227
IAO_0100001: HP_0200003
type: Class
deprecated: true
notation: HP:0004978

Metaphyseal sclerosis
tree view: Abnormality of the metaphysis
IAO_0000115: Abnormally increased density of metaphyseal bone.
has db xref: UMLS:C3552526
has exact synonym: Increased bone density in wide portion of long bone
has exact synonym: Sclerotic metaphyses
has OBO namespace: human_phenotype
id: HP:0004979
type: Class
subclass of: Abnormality of the metaphysis
notation: HP:0004979

Metaphyseal rarefaction
tree view: Abnormality of the metaphysis
IAO_0000115: Reduction in density of metaphyseal bony tissue.
has db xref: UMLS:C1832146
has exact synonym: Rarefaction of the metaphyses
has OBO namespace: human_phenotype
id: HP:0004980
type: Class
subclass of: Abnormality of the metaphysis
notation: HP:0004980

Prominent styloid process of ulna
tree view: Abnormality of the styloid process of ulna
has db xref: UMLS:C4025262
has OBO namespace: human_phenotype
id: HP:0004981
type: Class
subclass of: Abnormality of the styloid process of ulna
notation: HP:0004981

HP_0004982
IAO_0000231: IAO_0000227
IAO_0100001: Flattened epiphysis
type: Class
deprecated: true
notation: HP:0004982

HP_0004983
IAO_0000231: IAO_0000227
IAO_0100001: Short long bone
type: Class
deprecated: true
notation: HP:0004983

HP_0004984
IAO_0000231: IAO_0000227
IAO_0100001: Elbow flexion contracture
type: Class
deprecated: true
notation: HP:0004984

HP_0004985
IAO_0000231: IAO_0000227
IAO_0100001: HP_0006466
type: Class
deprecated: true
notation: HP:0004985

obsolete Rudimentary to absent fibulae
IAO_0000231: IAO_0000227
IAO_0100001: HP_0006381
IAO_0100001: HP:0006381
has OBO namespace: human_phenotype
id: HP:0004986
type: Class
deprecated: true
notation: HP:0004986

Mesomelic leg shortening
tree view: Mesomelia
IAO_0000115: Shortening of the middle parts of the leg in relation to the upper and terminal segments.
has db xref: UMLS:C1969178
has exact synonym: Mesomelia of the lower limbs
has exact synonym: Mesomelic lower limb shortening
has OBO namespace: human_phenotype
id: HP:0004987
type: Class
subclass of: Mesomelia
notation: HP:0004987

HP_0004988
IAO_0000231: IAO_0000227
IAO_0100001: Short long bone
type: Class
deprecated: true
notation: HP:0004988

HP_0004989
IAO_0000231: IAO_0000227
IAO_0100001: Hypoplasia of the radius
type: Class
deprecated: true
notation: HP:0004989

Epiphyseal streaking
tree view: HP_0005930
has db xref: UMLS:C1858039
has OBO namespace: human_phenotype
id: HP:0004990
type: Class
subclass of: HP_0005930
notation: HP:0004990

Rhizomelic arm shortening
tree view: HP_0008905
IAO_0000115: Disproportionate shortening of the proximal segment of the arm (i.e. the humerus).
has db xref: UMLS:C1969532
has OBO namespace: human_phenotype
id: HP:0004991
type: Class
subclass of: HP_0008905
notation: HP:0004991

HP_0004992
IAO_0000231: IAO_0000227
IAO_0100001: Dislocated wrist
type: Class
deprecated: true
notation: HP:0004992

Slender long bones with narrow diaphyses
tree view: Abnormal diaphysis morphology
tree view: Slender long bone
IAO_0000115: Reduced diameter of a long bone with a more pronounced reduction of the diameter of the diaphysis of the long bones.
has db xref: UMLS:C2675547
has exact synonym: Slender long bones with narrow shaft
has OBO namespace: human_phenotype
id: HP:0004993
type: Class
subclass of: Abnormal diaphysis morphology
subclass of: Slender long bone
notation: HP:0004993

HP_0004994
IAO_0000231: IAO_0000227
IAO_0100001: Flared metaphysis
type: Class
deprecated: true
notation: HP:0004994

HP_0004995
IAO_0000231: IAO_0000227
IAO_0100001: Metaphyseal irregularity
type: Class
deprecated: true
notation: HP:0004995

HP_0004996
IAO_0000231: IAO_0000227
IAO_0100001: Radial bowing
type: Class
deprecated: true
notation: HP:0004996

Multicentric ossification of proximal humeral epiphyses
tree view: Irregular ossification of the humeral epiphyses
has db xref: UMLS:C1857192
has OBO namespace: human_phenotype
id: HP:0004997
type: Class
subclass of: Irregular ossification of the humeral epiphyses
notation: HP:0004997

HP_0004998
IAO_0000231: IAO_0000227
IAO_0100001: Femoral bowing
type: Class
deprecated: true
notation: HP:0004998