| 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:0000505 | Impaired vision | |
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| HP:0000622 | Blurred vision | |
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| HP:0000656 | Ectropion | "An abnormal turning outward of the lower eyelid." [HPO:sdoelken] |
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| HP:0000958 | Dry skin | |
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| HP:0000991 | Xanthomatosis | "The presence of multiple xanthomas (xanthomata) in the skin. Xanthomas are yellowish, firm, lipid-laden nodules in the skin." [HPO:curators] |
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| HP:0001265 | Hyporeflexia | |
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| HP:0001349 | Facial diplegia | "Facial diplegia refers to simultaneous facial palsy (bilateral facial palsy is much rarer than unilateral facial palsy)." [HPO:curators] |
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| HP:0001392 | Abnormality of the liver | |
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| HP:0001433 | Hepatosplenomegaly | |
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| HP:0001658 | Myocardial infarction | |
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| HP:0001677 | Coronary artery disease | |
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| HP:0001712 | Left ventricular hypertrophy | |
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| HP:0001744 | Splenomegaly | "An abnormal enlargement of the spleen." [HPO:curators] |
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| HP:0001873 | Thrombocytopenia | |
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| HP:0001903 | Anemia | |
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| HP:0002027 | Abdominal pain | |
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| HP:0002155 | Hypertriglyceridemia | |
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| HP:0002164 | Nail dysplasia | |
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| HP:0002240 | Hepatomegaly | "An abnormal enlargment of the liver." [HPO:curators] |
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| HP:0002460 | Distal muscle weakness | "Reduced strength of the distal musculature." [HPO:curators] |
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| HP:0002716 | Lymphadenopathy | |
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| HP:0002730 | Chronic noninfectious lymphadenopathy | |
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| HP:0003146 | Hypocholesterolemia | |
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| HP:0003233 | Decreased HDL cholesterol | |
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| HP:0003396 | Syringomyelia | |
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| HP:0003457 | Abnormal EMG findings | "Abnormal results of investigations using electromyography (EMG)." [HPO:curators] |
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| HP:0003477 | Axonal neuropathy | |
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| HP:0003693 | Distal amyotrophy | "Muscular atrophy affecting muscles in the distal portions of the extremities." [HPO:curators] |
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| HP:0004374 | Hemiplegia/hemiparesis | "Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a severe or complete loss of strength, whereas hemiparesis refers to a relatively mild loss of strength." [HPO:curators] |
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| HP:0004943 | Accelerated atherosclerosis | |
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| HP:0005145 | Coronary artery stenosis | |
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| HP:0006901 | Impaired thermal sensitivity | |
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| HP:0007133 | Progressive peripheral neuropathy | |
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| HP:0007328 | Decreased pain sensation | "Reduced ability to perceive painful stimuli." [HPO:curators] |
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| HP:0007759 | Corneal opacities, not impairing visual acuity | |
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| HP:0007957 | Variable degree of corneal opacities | |
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| HP:0008404 | Nail dystrophy, variable | |
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| HP:0010829 | Loss of temperature sensation | |
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| HP:0011096 | Peripheral demyelination | "A loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system." [HPO:probinson] |
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| HP:0030814 | Orange discoloured tonsils | "A phenomenon of orange colored oral tonsils. This feature is characteristic of Tangier disease and illustrated will by Figure 1 of PMID:19470903." [HPO:probinson, PMID:19470903] |
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| HP:0100546 | Carotid stenosis | |
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