| HP:0000006 | Autosomal dominant 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 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." [HPO:curators] |
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| 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:0000375 | Abnormality of cochlea | "An abnormality of the cochlea, which 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." [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:0000510 | Retinitis pigmentosa | "Hereditary degeneration and atrophy of the retina." [HPO:curators] |
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| HP:0000512 | Abnormal electroretinogram | "Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography." [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:0000545 | Myopia | |
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| HP:0000550 | Abolished electroretinogram (ERG) | |
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| HP:0000572 | Visual loss | |
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| HP:0000575 | Scotoma | "Scotoma refers to an area or island of loss or impairment of visual acuity surrounded by a field of normal or relatively well-preserved vision." [HPO:curators] |
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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:0000662 | Night blindness | |
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| HP:0000670 | Carious teeth | |
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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:0000691 | Microdontia | |
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| HP:0000716 | Depression | "A condition characterized by pervasive dysphoric mood, loss of interests, and inability to experience pleasure." [HPO:curators] |
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| HP:0000738 | Hallucinations | |
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| HP:0000739 | Anxiety | |
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| HP:0001249 | Mental retardation | |
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| HP:0001251 | Ataxia | "Ataxia is a nonspecific neurological sign and symptom consisting of gross lack of coordination of muscle movements. Ataxia is caused by dysfunction of one or more parts of the nervous system including the cerebellum, the sensory nervous system, the vestibular system, or the cerebral cortex." [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:0001270 | Motor retardation | |
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| HP:0001425 | Heterogeneous | |
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| HP:0001756 | Vestibular hypofunction | |
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| HP:0002120 | Cerebral cortical atrophy | |
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| HP:0002321 | Vertigo | "An abnormal sensation of spinning while the body is actually stationary." [HPO:curators] |
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| HP:0003577 | Onset at birth | |
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| HP:0007360 | Aplasia/Hypoplasia of the cerebellum | |
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| HP:0007730 | Reduced iris pigmentation | |
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| HP:0008499 | High-grade hypermetropia | |
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| HP:0008555 | Absent vestibular function | |
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| HP:0008619 | Hearing loss, sensorineural, bilateral | |
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| HP:0011073 | Abnormality of dental color | "A developmental defect of tooth color." [HPO:ibailleulforestier] |
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| HP:0012157 | Subcortical cerebral atrophy | "Atrophy of the cerebral subcortical white and gray matter, termed subcortical atrophy, reflects loss of nerve cells in the basal ganglia or fibers in the deep white matter." [HPO:probinson, pmid:20813998] |
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| HP:0012377 | Hemianopsia | "Partial or complete loss of vision in one half of the visual field of one or both eyes." [HPO:probinson] |
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| HP:0100753 | Schizophrenia | "A mental disorder characterized by a disintegration of thought processes and of emotional responsiveness. It most commonly manifests as auditory hallucinations, paranoid or bizarre delusions, or disorganized speech and thinking, and it is accompanied by significant social or occupational dysfunction. The onset of symptoms typically occurs in young adulthood, with a global lifetime prevalence of about 0.3-0.7%." [HPO:sdoelken] |
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