Preferred Name

Huntingtons disease
Synonyms

Huntington's Chorea|Chronic Progressive Hereditary Chorea (Huntington)|Huntington Chronic Progressive Hereditary Chorea|Huntington's|Huntington's disease

ID

http://bioontology.org/projects/ontologies/birnlex#birnlex_12500

abbrev

class_or_indiv

true

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.

external_id_urls

http://www.nlm.nih.gov/cgi/mesh/2008/MB_cgi?field=uid&term=D006816

external_ids

meshUID:D006816

label

Huntingtons disease

mod_date

2007-10-05

preferred_label

Huntingtons disease

prefixIRI

birnlex_12500

prefLabel

Huntingtons disease

retired

false

synonyms

Huntington's Chorea|Chronic Progressive Hereditary Chorea (Huntington)|Huntington Chronic Progressive Hereditary Chorea|Huntington's|Huntington's disease

subClassOf

http://bioontology.org/projects/ontologies/birnlex#birnlex_2086

Delete Subject Author Type Created
No notes to display
Create mapping

Delete Mapping To Ontology Source
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://uri.neuinfo.org/nif/nifstd/birnlex_12500 NIFSTD 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://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 BMONT 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 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_12858 NIFSTD 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