loading...| Preferred Name | Huntington's disease | |
| Synonyms |
HUNTINGTON'S CHOREA Huntington Disease, Akinetic Rigid Variant Juvenile Huntington Disease Huntington Disease, Late Onset Huntington disease HUNTINGTON DIS AKINETIC RIGID VARIANT Huntington's disease HD - Huntington chorea Chronic Progressive Hereditary Chorea (Huntington) Chronic progressive chorea Huntington's HUNTINGTON DIS Huntington's chorea (disorder) JUVENILE HUNTINGTON DIS Chorea, Huntington Huntington Disease, Juvenile-Onset Akinetic Rigid Variant of Huntington Disease HC - Huntington chorea Huntington's disease pathway LATE ONSET HUNTINGTON DIS HUNTINGTONS DIS Chronic progressive hereditary chorea JUVENILE ONSET HUNTINGTON DIS HD |
|
| 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. (From Adams et al., Principles of Neurology, 6th ed, pp1060-4) 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. |
|
| ID |
http://www.ebi.ac.uk/efo/EFO_0000533 |
|
| 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. (From Adams et al., Principles of Neurology, 6th ed, pp1060-4) 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. |
|
| alternative term |
HUNTINGTON'S CHOREA Huntington Disease, Akinetic Rigid Variant Juvenile Huntington Disease Huntington Disease, Late Onset Huntington disease HUNTINGTON DIS AKINETIC RIGID VARIANT Huntington's disease HD - Huntington chorea Chronic Progressive Hereditary Chorea (Huntington) Chronic progressive chorea Huntington's HUNTINGTON DIS Huntington's chorea (disorder) JUVENILE HUNTINGTON DIS Chorea, Huntington Huntington Disease, Juvenile-Onset Akinetic Rigid Variant of Huntington Disease HC - Huntington chorea Huntington's disease pathway LATE ONSET HUNTINGTON DIS HUNTINGTONS DIS Chronic progressive hereditary chorea JUVENILE ONSET HUNTINGTON DIS HD |
|
| definition source |
GeneRIF:12950446 GeneRIF:15715085 GeneRIF:15644269 GeneRIF:12614934 GeneRIF:11914418 GeneRIF:12960759 GeneRIF:15749339 GeneRIF:12078510 GeneRIF:15843398 GeneRIF:15934928 GeneRIF:15817265 GeneRIF:12781994 GeneRIF:12736330 GeneRIF:12528814 GeneRIF:12691731 GeneRIF:12890790 GeneRIF:14978262 GeneRIF:15359012 GeneRIF:14522959 GeneRIF:12008025 GeneRIF:15383276 GeneRIF:14985389 GeneRIF:16115812 GeneRIF:15167689 GeneRIF:15922606 GeneRIF:15496672 GeneRIF:15009635 GeneRIF:14725621 GeneRIF:12657678 GeneRIF:12531510 GeneRIF:14751289 GeneRIF:16054230 GeneRIF:11817536 GeneRIF:15057517 GeneRIF:11813242 GeneRIF:15029481 GeneRIF:15033177 MSH:D006816 GeneRIF:15476444 GeneRIF:12952868 GeneRIF:16184606 GeneRIF:15742215 GeneRIF:11593450 GeneRIF:12915485 GeneRIF:12604778 GeneRIF:15261377 GeneRIF:15878807 GeneRIF:15880743 GeneRIF:12706247 SNOMEDCT:58756001 NIFSTD:birnlex_12500 GeneRIF:14981075 GeneRIF:14511117 GeneRIF:11432963 GeneRIF:15845076 GeneRIF:12682342 GeneRIF:15337316 GeneRIF:12969257 DOID:12858 ICD9:333.4 |
|
| label |
Huntington's disease |
|
| prefixIRI |
efo:EFO_0000533 |
|
| prefLabel |
Huntington's disease |
|
| see also | ||
| term editor |
Tomasz Adamusiak James Malone |
|
| subClassOf |
http://purl.obolibrary.org/obo/DOID_1307 |