loading...| Preferred Name | obsolete_Huntington's disease | |
| Synonyms |
Juvenile Onset Huntington Disease Late Onset Huntington Disease Huntington Disease, Akinetic Rigid Variant Juvenile Huntington Disease Juvenile-Onset Huntington Disease Huntington Disease, Late Onset Huntington disease Akinetic-Rigid Variant of Huntington Disease Huntington Chorea HUNTINGTON DIS AKINETIC RIGID VARIANT HUNTINGTON DIS JUVENILE ONSET HD - Huntington chorea Late-Onset Huntington Disease Huntington Disease, Late-Onset Chronic Progressive Hereditary Chorea (Huntington) Huntington Disease, Juvenile Chronic progressive chorea Huntington's HUNTINGTON DIS Huntington's chorea (disorder) JUVENILE HUNTINGTON DIS HUNTINGTON DIS JUVENILE AKINETIC RIGID VARIANT HUNTINGTON DIS Huntington Disease, Akinetic-Rigid Variant Chorea, Huntington Huntington's Chorea Huntington Disease, Juvenile-Onset Huntington Chronic Progressive Hereditary Chorea Chorea, Huntington's Akinetic Rigid Variant of Huntington Disease HC - Huntington chorea HUNTINGTON DIS LATE ONSET Huntington's disease pathway LATE ONSET HUNTINGTON DIS Huntingtons disease HUNTINGTONS DIS Chronic progressive hereditary chorea Chorea, Chronic Progressive Hereditary (Huntington) Progressive Chorea, Chronic Hereditary (Huntington) Huntington Disease, Juvenile Onset JUVENILE ONSET HUNTINGTON DIS Progressive Chorea, Hereditary, Chronic (Huntington) 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 |
|
| Obsolete |
true |
|
| database_cross_reference |
OMIM:143100 SNOMEDCT:58756001 NIFSTD:birnlex_12500 MeSH:D006816 DOID:12858 ICD9:333.4 |
|
| definition |
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. |
|
| deprecated |
true |
|
| has_exact_synonym |
Juvenile Onset Huntington Disease Late Onset Huntington Disease Huntington Disease, Akinetic Rigid Variant Juvenile Huntington Disease Juvenile-Onset Huntington Disease Huntington Disease, Late Onset Huntington disease Akinetic-Rigid Variant of Huntington Disease Huntington Chorea HUNTINGTON DIS AKINETIC RIGID VARIANT HUNTINGTON DIS JUVENILE ONSET HD - Huntington chorea Late-Onset Huntington Disease Huntington Disease, Late-Onset Chronic Progressive Hereditary Chorea (Huntington) Huntington Disease, Juvenile Chronic progressive chorea Huntington's HUNTINGTON DIS Huntington's chorea (disorder) JUVENILE HUNTINGTON DIS HUNTINGTON DIS JUVENILE AKINETIC RIGID VARIANT HUNTINGTON DIS Huntington Disease, Akinetic-Rigid Variant Chorea, Huntington Huntington's Chorea Huntington Disease, Juvenile-Onset Huntington Chronic Progressive Hereditary Chorea Chorea, Huntington's Akinetic Rigid Variant of Huntington Disease HC - Huntington chorea HUNTINGTON DIS LATE ONSET Huntington's disease pathway LATE ONSET HUNTINGTON DIS Huntingtons disease HUNTINGTONS DIS Chronic progressive hereditary chorea Chorea, Chronic Progressive Hereditary (Huntington) Progressive Chorea, Chronic Hereditary (Huntington) Huntington Disease, Juvenile Onset JUVENILE ONSET HUNTINGTON DIS Progressive Chorea, Hereditary, Chronic (Huntington) HD |
|
| label |
obsolete_Huntington's disease |
|
| obsoleted_in_version |
2.32 |
|
| organizational_class |
true |
|
| preferred label |
obsolete_Huntington's disease |
|
| prefixIRI |
efo:EFO_0000533 |
|
| prefLabel |
obsolete_Huntington's disease |
|
| reason_for_obsolescence |
use 'http://www.orpha.net/ORDO/Orphanet_399' instead. New Label : Huntington disease |
|
| term editor |
Tomasz Adamusiak James Malone |
|
| term replaced by | ||
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://www.ebi.ac.uk/efo/EFO_0000533 | CLO | SAME_URI | |
| http://www.ebi.ac.uk/efo/EFO_0000533 | EFO | SAME_URI | |
| http://www.ebi.ac.uk/efo/EFO_0000533 | EFO | SAME_URI | |
| http://www.ebi.ac.uk/efo/EFO_0000533 | EFO | LOOM | |
| http://www.ebi.ac.uk/efo/EFO_0000533 | EFO | LOOM |