Experimental Factor Ontology

Last uploaded: May 15, 2024
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Preferred Name

Huntington disease
Synonyms

Huntington's Disease

Huntington's disease

HD

Huntington's chorea

Huntington chorea

Huntington disease
Definitions

Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia.
ID

http://purl.obolibrary.org/obo/MONDO_0007739
closeMatch

http://identifiers.org/meddra/10070668
database_cross_reference

NCIT:C82342

ICD9:333.4

icd11.foundation:2132180242

MedDRA:10070668

DOID:12858

NORD:1256

UMLS:C0020179

OMIM:143100

GARD:6677

SCTID:58756001

MESH:D006816

Orphanet:399
definition

Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia.
exactMatch

http://identifiers.org/mesh/D006816

http://identifiers.org/snomedct/58756001

https://omim.org/entry/143100

http://purl.obolibrary.org/obo/Orphanet_399

http://purl.obolibrary.org/obo/NCIT_C82342

http://linkedlifedata.com/resource/umls/id/C0020179

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

true
has_exact_synonym

Huntington's Disease

Huntington's disease

HD

Huntington's chorea

Huntington chorea

Huntington disease
id

MONDO:0007739
in_subset

http://purl.obolibrary.org/obo/mondo#ordo_disease

http://purl.obolibrary.org/obo/mondo#rare

http://purl.obolibrary.org/obo/mondo#nord_rare

http://purl.obolibrary.org/obo/mondo#orphanet_rare

http://purl.obolibrary.org/obo/mondo#otar

http://purl.obolibrary.org/obo/mondo#gard_rare
label

Huntington disease
notation

MONDO:0007739
prefLabel

Huntington disease
subClassOf

http://www.ebi.ac.uk/efo/EFO_0004280

http://purl.obolibrary.org/obo/MONDO_0000167
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/MONDO_0007739 MONDO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0007739 OBA SAME_URI
http://purl.obolibrary.org/obo/MONDO_0007739 DOVES SAME_URI
http://purl.obolibrary.org/obo/MONDO_0007739 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0007739 OBA LOOM
http://purl.obolibrary.org/obo/OMIM_143100 CCO LOOM
http://doe-generated-ontology.com/OntoAD#C0020179 ONTOAD LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.228.140.380.278 RH-MESH LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0020179 OCHV LOOM
http://www.orpha.net/ORDO/Orphanet_399 ORDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#F03.087.250.400 RH-MESH LOOM
urn:agi-folder:huntington_disease BPT LOOM
http://identifiers.org/omim/143100 REXO LOOM
http://identifiers.org/omim/143100 GEXO LOOM
http://identifiers.org/omim/143100 RETO LOOM
http://www.semanticweb.org/ontologies/2011/1/Ontology1296772722296.owl#Huntington_disease PDON LOOM
http://localhost/plosthes.2017-1#6233 PLOSTHES LOOM
http://purl.obolibrary.org/obo/OMIT_0007958 OMIT LOOM
http://www.semanticweb.org/ontologies/2012/0/Ontology1325521724189.owl#Huntington's_disease CTO-NDD LOOM
http://purl.obolibrary.org/obo/OGMD_0000067 OGMD LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#6318 OCHV LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.400.430 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D006816 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.228.140.079.545 RH-MESH LOOM
http://purl.obolibrary.org/obo/MONDO_0007739 DOVES LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.228.662.262.249.750 RH-MESH LOOM
http://www.phoc.org.cn/pmo/class/PMO_00038378 PMAPP-PMO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_118 HRDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.574.500.497 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#F03.087.400.390 RH-MESH LOOM
http://purl.bioontology.org/ontology/MESH/D006816 MESH LOOM
http://www.gamuts.net/entity#Huntington_disease GAMUTS LOOM
http://purl.bioontology.org/ontology/OMIM/143100 OMIM LOOM