loading...| Preferred Name |
Huntington's disease |
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| Synonyms |
HUNTINGTON DIS Huntington's disease pathway JUVENILE ONSET HUNTINGTON DIS HD - Huntington chorea Juvenile Huntington Disease LATE ONSET HUNTINGTON DIS Chronic progressive hereditary chorea Huntington's HUNTINGTON'S CHOREA HC - Huntington chorea Huntington's disease HD Huntington Disease, Akinetic Rigid Variant HUNTINGTON DIS AKINETIC RIGID VARIANT Chronic Progressive Hereditary Chorea (Huntington) Chronic progressive chorea Huntington Disease, Juvenile-Onset Chorea, Huntington Akinetic Rigid Variant of Huntington Disease HUNTINGTONS DIS Huntington's chorea (disorder) Huntington disease JUVENILE HUNTINGTON DIS Huntington Disease, Late Onset |
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| Definitions |
A familial disorder inherited as an autosomal dominant trait and characterized by the onset of progressive CHOREA and DEMENTIA in the fourth or fifth decade of life. Common initial manifestations include paranoia; poor impulse control; DEPRESSION; HALLUCINATIONS; and DELUSIONS. Eventually intellectual impairment; loss of fine motor control; ATHETOSIS; and diffuse chorea involving axial and limb musculature develops, leading to a vegetative state within 10-15 years of disease onset. The juvenile variant has a more fulminant course including SEIZURES; ATAXIA; dementia; and chorea. A familial disorder inherited as an autosomal dominant trait and characterized by the onset of progressive CHOREA and DEMENTIA in the fourth or fifth decade of life. Common initial manifestations include paranoia; poor impulse control; DEPRESSION; HALLUCINATIONS; and DELUSIONS. Eventually intellectual impairment; loss of fine motor control; ATHETOSIS; and diffuse chorea involving axial and limb musculature develops, leading to a vegetative state within 10-15 years of disease onset. The juvenile variant has a more fulminant course including SEIZURES; ATAXIA; dementia; and chorea. (From Adams et al., Principles of Neurology, 6th ed, pp1060-4) |
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| ID |
http://www.ebi.ac.uk/efo/EFO_0000533 |
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| comment |
A familial disorder inherited as an autosomal dominant trait and characterized by the onset of progressive CHOREA and DEMENTIA in the fourth or fifth decade of life. Common initial manifestations include paranoia; poor impulse control; DEPRESSION; HALLUCINATIONS; and DELUSIONS. Eventually intellectual impairment; loss of fine motor control; ATHETOSIS; and diffuse chorea involving axial and limb musculature develops, leading to a vegetative state within 10-15 years of disease onset. The juvenile variant has a more fulminant course including SEIZURES; ATAXIA; dementia; and chorea. A familial disorder inherited as an autosomal dominant trait and characterized by the onset of progressive CHOREA and DEMENTIA in the fourth or fifth decade of life. Common initial manifestations include paranoia; poor impulse control; DEPRESSION; HALLUCINATIONS; and DELUSIONS. Eventually intellectual impairment; loss of fine motor control; ATHETOSIS; and diffuse chorea involving axial and limb musculature develops, leading to a vegetative state within 10-15 years of disease onset. The juvenile variant has a more fulminant course including SEIZURES; ATAXIA; dementia; and chorea. (From Adams et al., Principles of Neurology, 6th ed, pp1060-4) |
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| alternative term |
HUNTINGTON DIS Huntington's disease pathway JUVENILE ONSET HUNTINGTON DIS HD - Huntington chorea Juvenile Huntington Disease LATE ONSET HUNTINGTON DIS Chronic progressive hereditary chorea Huntington's HUNTINGTON'S CHOREA HC - Huntington chorea Huntington's disease HD Huntington Disease, Akinetic Rigid Variant HUNTINGTON DIS AKINETIC RIGID VARIANT Chronic Progressive Hereditary Chorea (Huntington) Chronic progressive chorea Huntington Disease, Juvenile-Onset Chorea, Huntington Akinetic Rigid Variant of Huntington Disease HUNTINGTONS DIS Huntington's chorea (disorder) Huntington disease JUVENILE HUNTINGTON DIS Huntington Disease, Late Onset |
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| definition source |
NIFSTD:birnlex_12500 GeneRIF:11813242 GeneRIF:12969257 MSH:D006816 GeneRIF:15167689 GeneRIF:15261377 GeneRIF:15476444 GeneRIF:12657678 ICD9:333.4 GeneRIF:12682342 GeneRIF:12691731 GeneRIF:14511117 GeneRIF:12950446 GeneRIF:12078510 GeneRIF:14751289 GeneRIF:15749339 GeneRIF:12706247 GeneRIF:12008025 GeneRIF:12960759 GeneRIF:15337316 GeneRIF:15644269 GeneRIF:12531510 SNOMEDCT:58756001 GeneRIF:14985389 GeneRIF:12952868 GeneRIF:15009635 GeneRIF:15843398 GeneRIF:12614934 GeneRIF:15359012 GeneRIF:14725621 GeneRIF:14522959 GeneRIF:16115812 GeneRIF:11432963 GeneRIF:12604778 GeneRIF:14981075 GeneRIF:15383276 GeneRIF:11593450 GeneRIF:12781994 GeneRIF:16054230 GeneRIF:15057517 GeneRIF:15742215 GeneRIF:15817265 DOID:12858 GeneRIF:15845076 GeneRIF:15922606 GeneRIF:12915485 GeneRIF:15029481 GeneRIF:15496672 GeneRIF:15033177 GeneRIF:15934928 GeneRIF:14978262 GeneRIF:11817536 GeneRIF:12736330 GeneRIF:12890790 GeneRIF:11914418 GeneRIF:15878807 GeneRIF:15715085 GeneRIF:16184606 GeneRIF:15880743 GeneRIF:12528814 |
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| label |
Huntington's disease |
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| prefixIRI |
efo:EFO_0000533 |
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| prefLabel |
Huntington's disease |
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| see also | ||
| term editor |
James Malone Tomasz Adamusiak |
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| subClassOf |
http://purl.obolibrary.org/obo/DOID_1307 |
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