| HP:0000007 | Autosomal recessive inheritance | "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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
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| HP:0000028 | Cryptorchidism | "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." [HPO:curators] |
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| HP:0000062 | Ambiguous genitalia | |
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| HP:0000233 | Thin vermillion border | |
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| HP:0000252 | Microcephaly | "Microcephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than the age- and gender-dependent norm." [HPO:curators] |
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| HP:0000322 | Short philtrum | |
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| HP:0000337 | Broad forehead | "Abnormally large side-to-side distance of the forehead." [HPO:curators] |
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| HP:0000426 | Prominent nasal bridge | |
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| HP:0000430 | Hypoplastic nasal alae | "Thinned, deficient, or excessively arched `ala nasi` (FMA:59519)." [pmid:19152422] |
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| HP:0000431 | Broad nasal bridge | "Increased horizontal dimension of the upper, bony part of the nose." [HPO:curators] |
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| HP:0000445 | Broad nose | |
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| HP:0000494 | Downward slanting palpebral fissures | |
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| HP:0000505 | Impaired vision | |
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| HP:0000520 | Proptosis | |
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| HP:0000648 | Optic atrophy | |
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| HP:0000668 | Hypodontia | "Hypodontia describes a situation when there are fewer than the normal number of teeth, whereby 6 teeth or fewer teeth are missing (oligodontia refers to the condition of missing more than 6 teeth and the congenital absence of all teeth is called anodontia)." [HPO:curators] |
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| HP:0000691 | Microdontia | |
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| HP:0000954 | Transverse palmar creases | "The presence of a single palmar crease (instead of the two palmar creases that are typically present)." [HPO:curators] |
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| HP:0000998 | Hypertrichosis | "Hypertrichosis is increased hair growth that is abnormal in quantity or location." [HPO:curators] |
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| HP:0001249 | Mental retardation | |
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| HP:0001250 | Seizures | "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) 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." [HPO:probinson] |
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| HP:0001252 | Muscular hypotonia | "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." [HPO:curators] |
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| HP:0001257 | Spasticity | "A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes." [HPO:curators] |
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| HP:0001263 | Developmental retardation | "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators] |
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| HP:0001272 | Cerebellar atrophy | |
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| HP:0001328 | Learning disability | |
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| HP:0001332 | Dystonia | "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." [HPO:curators] |
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| HP:0001376 | Decreased mobility of joints | |
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| HP:0001511 | Intrauterine growth retardation | |
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| HP:0001629 | Ventricular septal defect | "A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum." [HPO:curators] |
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| HP:0001792 | Nail hypoplasia | "Underdeveloped `fingernails` (FMA:54327) or `toenails` (FMA:54328)." [HPO:probinson] |
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| HP:0001864 | Fifth toe clinodactyly | |
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| HP:0002007 | Frontal bossing | "The presence of an unusually prominent forehead." [HPO:curators] |
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| HP:0002300 | Mutism | |
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| HP:0002357 | Dysphasia | |
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| HP:0002381 | Aphasia | |
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| HP:0002451 | Limb dystonia | |
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| HP:0002558 | Supernumerary nipples | |
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| HP:0002750 | Delayed skeletal maturation | "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." [HPO:curators] |
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| HP:0003510 | Short stature, severe | "A severe degree of short stature." [HPO:curators] |
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| HP:0004209 | Clinodactyly of the 5th finger | "Clinodactyly refers to a bending or curvature of the `fifth finger` (FMA:24949) in the radial direction (i.e., towards the 4th finger)." [HPO:curators] |
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| HP:0004325 | Decreased body weight | |
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| HP:0006101 | Finger syndactyly | "Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are revered to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are refered to as "Symphalangism"." [HPO:curators] |
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| HP:0007598 | Bilateral single palmar creases | |
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| HP:0008070 | Sparse hair | |
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| HP:0008897 | Growth retardation, progressive | |
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| HP:0009765 | Columella, low hanging | "Columella extending inferior to the level of the nasal base, when viewed from the side." [pmid:19152422] |
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| HP:0010529 | Echolalia | "The tendency to repeat vocalizations made by another person." [HPO:curators] |
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| HP:0010550 | Paraplegia | "Severe or complete weakness of both lower extremities with sparing of the upper extremities." [HPO:curators] |
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| HP:0010580 | Enlarged epiphyses | |
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| HP:0010624 | Aplastic/hypoplastic toenails | |
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| HP:0010714 | 2-4 toe syndactyly | "`Syndactyly` (HP:0001159) with fusion of toes two to four." [HPO:sdoelken] |
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| HP:0010761 | Columella, broad | "Increased width of the columella." [pmid:19152422] |
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| HP:0011220 | Prominent forehead | "Forward prominence of the entire forehead, due to protrusion of the frontal bone." [pmid:19125436] |
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| HP:0011335 | Frontal hirsutism | "Excessive amount of hair growth on forehead." [DDD:jclayton-smith] |
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