| 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:0000020 | Urinary incontinence | "Loss of the ability to control the urinary bladder leading to involuntary urination." [HPO:sdoelken] |
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| HP:0000112 | Nephropathy | "A nonspecific term referring to disease or damage of the kidneys." [HPO:curators] |
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| HP:0000365 | Hearing loss | |
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| HP:0000505 | Impaired vision | |
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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:0000726 | Dementia | |
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| HP:0000802 | Impotence | |
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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: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: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: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] |
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| HP:0001265 | Hyporeflexia | |
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| HP:0001269 | Hemiparesis | "Relatively mild weakness in the arm, leg, and in some cases the face on one side of the body." [HPO:curators] |
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| HP:0001271 | Polyneuropathy | "A generalized disorder of peripheral nerves." [HPO:curators] |
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| HP:0001324 | Muscle weakness | "Reduced strength of muscles." [HPO:curators] |
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| HP:0001337 | Tremor | "An unintentional, oscillating to-and-fro muscle movement." [HPO:curators] |
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| HP:0001638 | Cardiomyopathy | |
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| HP:0001640 | Cardiomegaly | |
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| HP:0001678 | Atrioventricular block | |
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| HP:0001824 | Weight loss | |
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| HP:0002014 | Diarrhea | |
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| HP:0002019 | Constipation | |
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| HP:0002315 | Headache | "Cephalgia, or pain in the head originating from the cerebral vault." [HPO:curators] |
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| HP:0002401 | Stroke-like episodes | |
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| HP:0002459 | Dysautonomia | |
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| HP:0002922 | Increased CSF protein | |
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| HP:0003477 | Axonal neuropathy | |
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| HP:0003581 | Onset in adulthood | |
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| HP:0003676 | Progressive disorder | |
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| HP:0003812 | Phenotypic variability | |
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| HP:0004926 | Orthostatic hypotension due to autonomic dysfunction | |
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| HP:0007841 | Amyloid deposition in the vitreous humor | |
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| HP:0008326 | Vitamin B6 deficiency | |
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| HP:0009830 | Peripheral neuropathy | "Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course." [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:0011034 | Amyloidosis | "The presence of `amyloid deposition` (MPATH:34) in one or more tissues. Amyloidosis may be defined as the exrtracellular deposition of amyloid in one or more sites of the body." [HPO:probinson, pmid:21039326] |
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| HP:0011675 | Arrhythmia | "Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both." [DDD:dbrown, pmid:19063792] |
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| HP:0012185 | Constrictive median neuropathy | "Injury to the median nerve caused by its entrapment at the wrist as it traverses through the carpal tunnel. Clinically, constrictive median neuropathy is characterized by pain, paresthesia, and weakness in the median nerve distribution of the hand." [HPO:probinson] |
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| HP:0012276 | Digital flexor tenosynovitis | "Inflammation of the flexor digitorum tendon, often associated with the Kanavel signs: (i) finger held in slight flexion, (ii) fusiform swelling, (iii) tenderness along the flexor tendon sheath, and (iv) pain with passive extension of the digit." [HPO:probinson] |
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| HP:0100832 | Mouches volantes | "Deposits of various size, shape, consistency, refractive index, and motility within the eye s vitreous humour, which is normally transparent." [HPO:sdoelken] |
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| HP:0500014 | Abnormal test result | "Abnormal finding in a diagnostic test or assay." [] |
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