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Preferred Name

Huntington's disease
Synonyms

Huntington's chorea

HD
Definitions

A neurodegenerative disease that has_material_basis_in autosomal dominant inheritance and is characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in neuron degeneration affecting muscle coordination, cognitive abilities.
ID

http://purl.obolibrary.org/obo/DOID_12858
database_cross_reference

ICD10CM:G10

ICD9CM:333.4

OMIM:143100

SNOMEDCT_US_2023_03_01:58756001

UMLS_CUI:C0020179

MESH:D006816

GARD:6677

KEGG:05016

NCI:C82342
definition

A neurodegenerative disease that has_material_basis_in autosomal dominant inheritance and is characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in neuron degeneration affecting muscle coordination, cognitive abilities.
equivalentClass

http://uri.neuinfo.org/nif/nifstd/birnlex_12500
has exact synonym

Huntington's chorea

Huntington disease

HD
has_obo_namespace

disease_ontology
id

DOID:12858
in_subset

http://purl.obolibrary.org/obo/doid#NCIthesaurus

http://purl.obolibrary.org/obo/doid#DO_rare_slim

http://purl.obolibrary.org/obo/doid#DO_FlyBase_slim
label

Huntington's disease
notation

DOID:12858
prefLabel

Huntington's disease
subClassOf

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

http://uri.neuinfo.org/nif/nifstd/birnlex_2086
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_12858 DTO SAME_URI
http://purl.obolibrary.org/obo/DOID_12858 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_12858 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_12858 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_12858 MIDO SAME_URI
http://purl.obolibrary.org/obo/DOID_12858 FNS-H 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