Medical Subject Headings

Last uploaded: January 31, 2024
Preferred Name

Huntington Disease

Synonyms

Late-Onset 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. (From Adams et al., Principles of Neurology, 6th ed, pp1060-4)

ID

http://purl.bioontology.org/ontology/MESH/D006816

altLabel

Late-Onset Huntington Disease

Chorea, Huntington's

Progressive Chorea, Chronic Hereditary (Huntington)

Huntington Chorea

Huntington Disease, Late-Onset

Huntington's Disease

Huntington's Chorea

Juvenile Huntington Disease

Chorea, Chronic Progressive Hereditary (Huntington)

Late Onset Huntington Disease

Juvenile-Onset Huntington Disease

Huntington Disease, Juvenile Onset

Chorea, Huntington

Huntington Chronic Progressive Hereditary Chorea

Juvenile Onset Huntington Disease

Chronic Progressive Hereditary Chorea (Huntington)

Akinetic-Rigid Variant of Huntington Disease

Huntington Disease, Juvenile-Onset

Huntington Disease, Akinetic-Rigid Variant

Akinetic Rigid Variant of Huntington Disease

Huntington Disease, Late Onset

Huntington Disease, Juvenile

Progressive Chorea, Hereditary, Chronic (Huntington)

Huntington Disease, Akinetic Rigid Variant

AQL

BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI

cui

C0751207

C0393574

C0751208

C0020179

DC

1

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

DX

20000101

HN

2000(1963)

Inverse of AQ

http://purl.bioontology.org/ontology/MESH/Q000097

http://purl.bioontology.org/ontology/MESH/Q000178

http://purl.bioontology.org/ontology/MESH/Q000175

http://purl.bioontology.org/ontology/MESH/Q000628

http://purl.bioontology.org/ontology/MESH/Q000276

http://purl.bioontology.org/ontology/MESH/Q000134

http://purl.bioontology.org/ontology/MESH/Q000139

http://purl.bioontology.org/ontology/MESH/Q000266

http://purl.bioontology.org/ontology/MESH/Q000378

http://purl.bioontology.org/ontology/MESH/Q000517

http://purl.bioontology.org/ontology/MESH/Q000662

http://purl.bioontology.org/ontology/MESH/Q000469

http://purl.bioontology.org/ontology/MESH/Q000150

http://purl.bioontology.org/ontology/MESH/Q000821

http://purl.bioontology.org/ontology/MESH/Q000191

http://purl.bioontology.org/ontology/MESH/Q000196

http://purl.bioontology.org/ontology/MESH/Q000473

http://purl.bioontology.org/ontology/MESH/Q000145

http://purl.bioontology.org/ontology/MESH/Q000382

http://purl.bioontology.org/ontology/MESH/Q000451

http://purl.bioontology.org/ontology/MESH/Q000453

http://purl.bioontology.org/ontology/MESH/Q000534

http://purl.bioontology.org/ontology/MESH/Q000532

http://purl.bioontology.org/ontology/MESH/Q000503

http://purl.bioontology.org/ontology/MESH/Q000188

http://purl.bioontology.org/ontology/MESH/Q000235

http://purl.bioontology.org/ontology/MESH/Q000201

http://purl.bioontology.org/ontology/MESH/Q000209

http://purl.bioontology.org/ontology/MESH/Q000208

http://purl.bioontology.org/ontology/MESH/Q000601

http://purl.bioontology.org/ontology/MESH/Q000000981

http://purl.bioontology.org/ontology/MESH/Q000652

http://purl.bioontology.org/ontology/MESH/Q000523

http://purl.bioontology.org/ontology/MESH/Q000401

Machine permutation

2000; see HUNTINGTON'S DISEASE 1993-1999; for HUNTINGTON DISEASE see HUNTINGTON'S DISEASE 1993-1999, see HUNTINGTON CHOREA 1977-1992, see CHOREA, HEREDITARY 1963-1976

Mapped from

http://purl.bioontology.org/ontology/MESH/C536694

http://purl.bioontology.org/ontology/MESH/C566398

http://purl.bioontology.org/ontology/MESH/C565747

MDA

19990101

MMR

20150630

MN

F03.615.400.390

C10.228.140.079.545

F03.615.250.400

C10.228.662.262.249.750

C10.574.500.497

C10.228.140.380.278

C16.320.400.430

notation

D006816

prefLabel

Huntington Disease

TERMUI

T364236

T364208

T364195

T020578

T364186

T364235

T364196

T364201

T020577

T364194

T368476

T020579

T364188

T020576

T364197

T364187

T364189

TH

OMIM (2013)

NLM (2000)

NLM (1993)

NLM (1978)

GHR (2014)

NLM (19XX)

BIOETHICS (1974)

ORD (2010)

tui

T047

subClassOf

http://purl.bioontology.org/ontology/MESH/D001480

http://purl.bioontology.org/ontology/MESH/D002819

http://purl.bioontology.org/ontology/MESH/D003704

http://purl.bioontology.org/ontology/MESH/D003072

http://purl.bioontology.org/ontology/MESH/D020271

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MSHFRE/D006816 MSHFRE CUI
http://purl.bioontology.org/ontology/MSHFRE/D006816 MSHFRE CUI
http://purl.bioontology.org/ontology/MSHFRE/D006816 MSHFRE CUI
http://purl.bioontology.org/ontology/SCTSPA/230300007 SCTSPA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/230300007 SNOMEDCT CUI
http://purl.bioontology.org/ontology/RCD/X003q RCD CUI
http://purl.bioontology.org/ontology/RCD/X003p RCD CUI
http://purl.bioontology.org/ontology/SCTSPA/230299004 SCTSPA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/230299004 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MDRGER/10020469 MDRGER CUI
http://purl.bioontology.org/ontology/ICD9CM/333.4 ICD9CM CUI
http://purl.bioontology.org/ontology/NDFRT/N0000001558 NDFRT CUI
http://purl.bioontology.org/ontology/MSHFRE/D006816 MSHFRE CUI
http://purl.bioontology.org/ontology/OMIM/613004 OMIM CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0020179 MEDLINEPLUS CUI
http://purl.bioontology.org/ontology/ICD10CM/G10 ICD10CM CUI
http://purl.bioontology.org/ontology/ICD10/G10 ICD10 CUI
http://purl.bioontology.org/ontology/SNMI/DA-21120 SNMI CUI
http://purl.bioontology.org/ontology/LNC/LA27532-3 LOINC CUI
http://purl.bioontology.org/ontology/SNOMEDCT/58756001 SNOMEDCT CUI
http://purl.bioontology.org/ontology/ICPC2P/N99004 ICPC2P CUI
http://purl.bioontology.org/ontology/MDRGER/10070668 MDRGER CUI
http://purl.bioontology.org/ontology/RCD/F134. RCD CUI
http://purl.bioontology.org/ontology/MEDDRA/10070668 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10020469 MDRFRE CUI
http://purl.bioontology.org/ontology/SCTSPA/58756001 SCTSPA CUI
http://purl.bioontology.org/ontology/MEDDRA/10020469 MEDDRA CUI
http://purl.bioontology.org/ontology/OMIM/143100 OMIM CUI
http://purl.bioontology.org/ontology/CSP/2057-3283 CRISP CUI
http://purl.bioontology.org/ontology/MDRFRE/10070668 MDRFRE CUI
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 EFO LOOM
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 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://www.gamuts.net/entity#Huntington_disease GAMUTS LOOM
http://purl.bioontology.org/ontology/OMIM/143100 OMIM LOOM