Preferred Name

Huntington Disease

Synonyms

Huntington Chorea

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 (source : MSH)

ID

http://doe-generated-ontology.com/OntoAD#C0020179

altLabel

Huntington Chorea

HUNTINGTON DIS

Huntington

Chorée chronique progressive héréditaire de Huntington

chorée progressive héréditaire de Huntington

Chronic progressive chorea

Huntington's chorea

HD Huntington chorea

HC Huntington chorea

Chorée de Huntington

Chorée chronique progressive de Huntington

Huntington's disease

chorée héréditaire

Progressive Chorea, Hereditary, Chronic (Huntington)

Chronic progressive hereditary chorea

associated_with_malfunction_of_gene_product

http://doe-generated-ontology.com/OntoAD#C0252274

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 (source : MSH)

disease_has_associated_anatomic_site

http://doe-generated-ontology.com/OntoAD#C0927232

http://doe-generated-ontology.com/OntoAD#C0027763

disease_has_associated_gene

http://doe-generated-ontology.com/OntoAD#C1415504

has_finding_site

http://doe-generated-ontology.com/OntoAD#C0004781

has_manifestation

http://doe-generated-ontology.com/OntoAD#C0008489

http://doe-generated-ontology.com/OntoAD#C0344315

http://doe-generated-ontology.com/OntoAD#C0497327

http://doe-generated-ontology.com/OntoAD#C0240735

http://doe-generated-ontology.com/OntoAD#C0233565

has_severity

http://doe-generated-ontology.com/OntoAD#C0439793

hiddenLabel

MaladieDeHuntington

HuntingtonDisease

prefixIRI

OntoAD:C0020179

prefLabel

Huntington Disease

Maladie de Huntington

subClassOf

http://doe-generated-ontology.com/OntoAD#C0004782

http://doe-generated-ontology.com/OntoAD#C0393572

Delete Subject Author Type Created
No notes to display
Create mapping

Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/MONDO_0007739 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0007739 OBA LOOM
http://purl.obolibrary.org/obo/MONDO_0007739 EFO LOOM
http://purl.obolibrary.org/obo/OMIM_143100 CCO 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