| 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:0000072 | Hydroureter | "The distention of the ureter with urine." [HPO:curators] |
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| HP:0000143 | Rectovaginal fistula | "The presence of a fistula between the rectum and the vagina." [HPO:curators] |
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| HP:0000286 | Epicanthus | "An epicanthal fold is a semilunar fold of skin that extends from the upper eyelid across the medial canthal area to the lower eyelid." [HPO:curators] |
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| HP:0000396 | Overfolded helices | "A condition in which the upper edge of the ear is folded over to a greater degree than normal." [HPO:curators] |
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| HP:0000407 | Hearing loss, sensorineural | "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators] |
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| HP:0000463 | Nares, anteverted | "Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject." [pmid:19152422] |
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| HP:0000486 | Strabismus | "Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other." [HPO:curators] |
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| HP:0000508 | Ptosis | "Drooping of the eyelid." [HPO:curators] |
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| HP:0000518 | Cataract | "A cataract is an opacity or clouding that develops in the crystalline `lens` (FMA:58241) of the eye or in its `capsule` (FMA:58881)." [HPO:probinson] |
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| HP:0000519 | Congenital cataract | "A congenital `cataract` (HP:0000518)." [HPO:probinson] |
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| HP:0000639 | Nystagmus | "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators] |
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| HP:0000682 | Abnormality of dental enamel | "An abnormality of the dental enamel, which is the external layer of the teeth, being a highly mineralized substance consisting primarily of hydroxylapatite." [HPO:curators] |
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| HP:0000684 | Delayed dentition | "Delayed eruption of teeth." [HPO:curators] |
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| HP:0001156 | Brachydactyly | |
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| HP:0001216 | Delayed maturation/delayed ossification of carpal bones | |
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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: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:0001290 | Generalized hypotonia | "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators] |
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| HP:0001374 | Congenital hip dislocation | |
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| HP:0001539 | Omphalocele | |
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| HP:0001561 | Polyhydramnios | |
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| HP:0001600 | Abnormality of the larynx | |
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| HP:0001604 | Vocal cord paresis | |
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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:0001631 | Atrial septal defect | "Atrial septal defect (ASD) is a congenital heart defect that enables blood flow between the left and right atria via the interatrial septum. The three common types of ASD are sinus venosus defects, ostium secundum defects, and ostium primum defects." [HPO:curators] |
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| HP:0002023 | Anal atresia | "Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract." [HPO:curators] |
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| HP:0002079 | Hypoplasia of the corpus callosum | "Underdevelopment of the corpus callosum." [HPO:curators] |
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| HP:0002650 | Scoliosis | "The presence of an abnormal lateral curvature of the spine." [HPO:curators] |
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| HP:0002682 | Broad skull | |
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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:0002857 | Genu valgum | |
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| HP:0003177 | Square iliac bones | |
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| HP:0003196 | Nasal hypoplasia | "Underdevelopment of the `nose` (FMA:46472)." [HPO:probinson] |
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| HP:0003311 | Hypoplastic odontoid process | |
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| HP:0003417 | Coronal cleft vertebrae | |
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| HP:0004122 | Midline defect of the nose | "This term groups together three conditions that presumably represent different degrees of severity of a midline defect of the nose or nasal tip." [HPO:curators] |
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| HP:0004322 | Decreased body height | "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)." [HPO:curators] |
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| HP:0005242 | Extrahepatic biliary duct atresia | |
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| HP:0005280 | Depressed nasal root and bridge | |
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| HP:0005692 | Joint hyperflexibility | |
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| HP:0005792 | Humeral hypoplasia | |
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| HP:0005930 | Abnormality of the epiphyses | |
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| HP:0006297 | Hypoplastic dental enamel | |
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| HP:0006482 | Abnormality of dental morphology | |
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| HP:0006695 | Tricuspid and mitral valves are replaced by a single inlet valve | |
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| HP:0008081 | Valgus foot deformity | |
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| HP:0009623 | Proximally placed thumb | "Proximally displaced thumb." [HPO:curators] |
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| HP:0009803 | Hypoplastic/small phalanges of the hand | |
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| HP:0009901 | Crumpled ear helices | |
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| HP:0010049 | Hypoplastic/short metacarpal bones | |
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| HP:0012368 | Flat face | "Absence of concavity or convexity of the face when viewed in profile." [pmid:19125436] |
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| HP:0100255 | Metaphyseal dysplasia | "The presence of dysplastic regions in metaphyseal bones." [HPO:sdoelken] |
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