Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
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Preferred Name

HUNTINGTON DISEASE
Synonyms

HUNTINGTON CHOREA
ID

http://purl.bioontology.org/ontology/OMIM/143100
altLabel

HUNTINGTON CHOREA

HD
cui

C0020179
Gene Locus

4p16.3
Gene Symbol

IT15

HD

HTT

LOMARS
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU031013

http://purl.bioontology.org/ontology/OMIM/MTHU031016

http://purl.bioontology.org/ontology/OMIM/MTHU031015

http://purl.bioontology.org/ontology/OMIM/MTHU017826

http://purl.bioontology.org/ontology/OMIM/MTHU017828

http://purl.bioontology.org/ontology/OMIM/MTHU003622

http://purl.bioontology.org/ontology/OMIM/MTHU000535

http://purl.bioontology.org/ontology/OMIM/MTHU017827

http://purl.bioontology.org/ontology/OMIM/MTHU000765

http://purl.bioontology.org/ontology/OMIM/MTHU031012

http://purl.bioontology.org/ontology/OMIM/MTHU031014

http://purl.bioontology.org/ontology/OMIM/MTHU000140

http://purl.bioontology.org/ontology/OMIM/MTHU000940
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

143100
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

HUNTINGTON DISEASE
Scope Statement

Juvenile rigid early-onset form more often paternally inherited [MISCELLANEOUS]

Caused by a trinucleotide repeat expansion (CAG)n in the huntingtin gene (HTT, 613004.0001) [MOLECULAR BASIS]

Normal range of expanded repeats 9-29, HD range 36-121 [MISCELLANEOUS]

Prevalence much higher in whites than blacks [MISCELLANEOUS]

Onset first to seventh decade with 30 to 40 year mode [MISCELLANEOUS]

Complete penetrance [MISCELLANEOUS]
tui

T047
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Delete Mapping To Ontology Source
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/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/MESH/D006816 MESH CUI
http://purl.bioontology.org/ontology/SCTSPA/58756001 SCTSPA CUI
http://purl.bioontology.org/ontology/MEDDRA/10020469 MEDDRA 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 MONDO 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://purl.bioontology.org/ontology/MESH/D006816 MESH LOOM
http://www.gamuts.net/entity#Huntington_disease GAMUTS LOOM