Preferred Name

Huntingtons disease

Synonyms

Huntington's

Huntington Chronic Progressive Hereditary Chorea

Huntington's disease

Huntington's Chorea

Chronic Progressive Hereditary Chorea (Huntington)

Huntington disease

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.

ID

http://uri.neuinfo.org/nif/nifstd/birnlex_12500

acronym

HD

createdDate

2007-10-05

definingCitation

Adams et al., Principles of Neurology, 6th ed, pp1060-4

definingCitationURI

http://www.ninds.nih.gov/disorders/huntington/huntington.htm

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.

hasBirnlexCurator

http://uri.neuinfo.org/nif/nifstd/readable/Bill_Bug

hasCurationStatus

http://uri.neuinfo.org/nif/nifstd/readable/uncurated

hasDefinitionSource

http://uri.neuinfo.org/nif/nifstd/readable/MeSH_defSource

hasExternalSource

http://uri.neuinfo.org/nif/nifstd/readable/MeSH

label

Huntingtons disease

MeshUid

D006816

modifiedDate

April 11, 2009

nifID

_8.3_2.10

preferred label

Huntingtons disease

synonym

Huntington's

Huntington Chronic Progressive Hereditary Chorea

Huntington's disease

Huntington's Chorea

Chronic Progressive Hereditary Chorea (Huntington)

Huntington disease

subClassOf

http://purl.obolibrary.org/obo/DOID_1289

http://uri.neuinfo.org/nif/nifstd/birnlex_2086

Delete Subject Author Type Created
No notes to display
Create mapping

Delete Mapping To Ontology Source
http://uri.neuinfo.org/nif/nifstd/birnlex_12500 NIFDYS SAME_URI
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Huntington_s_Disease CSEO LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_12858 NATPRO LOOM
http://uri.neuinfo.org/nif/nifstd/birnlex_12500 NIFDYS LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Huntington's_Disease ESSO LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Huntington's_Disease EPISEM LOOM
http://purl.obolibrary.org/obo/ND_0000114 NDDO LOOM
http://purl.obolibrary.org/obo/ND_0000114 NIO LOOM
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0020179 MEDLINEPLUS LOOM
http://purl.bioontology.org/ontology/ICD10CM/G10 ICD10CM LOOM
http://purl.jp/bio/4/id/200906004186384891 IOBC LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C82342 NCIT LOOM
http://www.semanticweb.org/cjf/ontologies/2022/8/NeuralReprogrammingOntology(NRO)#Huntington's_disease NRO LOOM
http://purl.bioontology.org/ontology/ICD10/G10 ICD10 LOOM
http://nanbyodata.jp/ontology/NANDO_1200012 NANDO LOOM
http://purl.bioontology.org/ontology/LNC/LA27532-3 LOINC LOOM
http://purl.obolibrary.org/obo/NCIT_C82342 BERO LOOM
http://ontology.apa.org/apaonto/termsonlyOUT%20(5).owl#Huntingtons_Disease APANEUROCLUSTER LOOM
http://ontology.apa.org/apaonto/termsonlyOUT%20(5).owl#Huntingtons_Disease APADISORDERS LOOM
http://ontology.apa.org/apaonto/termsonlyOUT%20(5).owl#Huntingtons_Disease APAONTO LOOM
http://bioontology.org/projects/ontologies/birnlex#birnlex_12500 BIRNLEX LOOM
http://scai.fraunhofer.de/AlzheimerOntology#Huntingtons_disease ADO LOOM
http://scai.fraunhofer.de/AlzheimerOntology#Huntingtons_disease NIO LOOM
http://purl.bioontology.org/ontology/RCD/F134. RCD LOOM
http://purl.bioontology.org/ontology/MEDDRA/10070668 MEDDRA LOOM
http://purl.obolibrary.org/obo/DOID_12858 DTO LOOM
http://purl.obolibrary.org/obo/DOID_12858 DOID LOOM
http://purl.obolibrary.org/obo/DOID_12858 BAO LOOM
http://purl.obolibrary.org/obo/DOID_12858 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_12858 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_12858 FNS-H LOOM
http://www.projecthalo.com/aura#Huntingtons-Disease AURA LOOM
http://purl.bioontology.org/ontology/CSP/2057-3283 CRISP LOOM
http://www.ebi.ac.uk/efo/EFO_0000533 CLO LOOM
http://purl.obolibrary.org/obo/Huntingtons_Disease NND_ND LOOM