| 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] |
Show
|
| 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] |
Show
|
| HP:0000505 | Impaired vision | |
Show
|
| 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] |
Show
|
| HP:0000552 | Blue-yellow dyschromatopsia | |
Show
|
| HP:0000603 | Central scotoma | |
Show
|
| HP:0000618 | Blindness | |
Show
|
| HP:0000639 | Nystagmus | "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators] |
Show
|
| HP:0000642 | Red-green dyschromatopsia | |
Show
|
| HP:0000648 | Optic atrophy | |
Show
|
| HP:0000707 | Neurological abnormality | "An abnormality of the central or peripheral nervous system." [HPO:curators] |
Show
|
| HP:0001172 | Abnormality of the thumb | |
Show
|
| HP:0001249 | Mental retardation | |
Show
|
| 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] |
Show
|
| 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] |
Show
|
| HP:0001260 | Dysarthria | "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." [HPO:curators] |
Show
|
| HP:0001266 | Choreoathetosis | |
Show
|
| HP:0001272 | Cerebellar atrophy | |
Show
|
| HP:0001288 | Gait disturbance | "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." [HPO:curators] |
Show
|
| HP:0001337 | Tremor | "An unintentional, oscillating to-and-fro muscle movement." [HPO:curators] |
Show
|
| HP:0001347 | Hyperreflexia | "The presence of overactive or overresponsive reflexes." [HPO:curators] |
Show
|
| HP:0001377 | Limited elbow extension | |
Show
|
| HP:0001761 | Pes cavus | |
Show
|
| HP:0002071 | Extrapyramidal signs | |
Show
|
| HP:0002072 | Chorea | "Chorea (Greek for dance ) refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion." [HPO:curators] |
Show
|
| HP:0002174 | Postural tremor | "A type of tremors that is triggered by holding a limb in a fixed position." [HPO:curators] |
Show
|
| HP:0002313 | Spastic paraparesis | |
Show
|
| HP:0002317 | Unsteady gait | |
Show
|
| HP:0002322 | Resting tremor | "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." [HPO:curators] |
Show
|
| HP:0002403 | Positive Romberg sign | |
Show
|
| HP:0003394 | Muscle cramps | |
Show
|
| HP:0003401 | Paresthesia | "Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause." [HPO:curators] |
Show
|
| HP:0003438 | Absent ankle reflexes | |
Show
|
| HP:0003487 | Babinski sign | "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." [HPO:curators] |
Show
|
| HP:0003535 | 3-Methylglutaconic aciduria | |
Show
|
| HP:0006248 | Limited wrist movement | "An abnormal limitation of the mobility of the wrist." [HPO:curators] |
Show
|
| HP:0007076 | Extrapyramidal muscular rigidity | |
Show
|
| HP:0007663 | Decreased central vision | |
Show
|
| HP:0007787 | Posterior subcapsular cataracts | |
Show
|
| HP:0007795 | Anterior cortical cataract | "A `cataract` (HP:0000518) that affects the anterior part of the `cortex of the lens` (FMA:58970)." [HPO:probinson] |
Show
|
| HP:0007976 | Cerulean cataracts | "Cerulean cataracts are a kind of `congenital cataract` (HP:0000519) having peripheral bluish and white opacifications in concentric layers with occasional central lesions arranged radially. Although the opacities may be observed during fetal development and childhood, usually visual acuity is only mildly reduced until adulthood, when lens extraction is generally necessary." [HPO:probinson, pmid:19496508, pmid:9158139] |
Show
|
| HP:0009468 | Deviation of the 2nd finger | "Displacement of the 2nd finger from its normal position." [HPO:curators] |
Show
|
| HP:0010522 | Dyslexia | "A learning disorder characterized primarily by difficulties in learning to read and spell. Dyslectic children also exhibit a tendency to read words from right to left and to confuse letters such as b and d whose orientation is important for their identification. Children with dyslexia appear to be impaired in phonemic skills (the ability to associate visual symbols with the sounds they represent)." [HPO:curators] |
Show
|
| HP:0010923 | Anterior subcapsular cataract | "A type of cataract affecting the `Anterior pole of lens` (FMA:58897) immediately adjacent to ( beneath ) the `Lens capsule` (FMA:58881)." [HPO:probinson] |
Show
|
| HP:0010924 | Posterior cortical cataract | "A `cataract` (HP:0000518) that affects the posterior part of the `cortex of the lens` (FMA:58970)." [HPO:probinson] |
Show
|
| HP:0012531 | Pain | "An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage." [ORCID:0000-0001-5208-3432] |
Show
|
| HP:0100543 | Cognitive impairment | "Abnormality in the process of thought including the ability to process information." [HPO:sdoelken] |
Show
|
