Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

Preferred Name	HUNTINGTIN
Synonyms	HUNTINGTON DISEASE
ID	http://purl.bioontology.org/ontology/OMIM/613004
altLabel	HUNTINGTON DISEASE HTT HD GENE IT15 LOPES-MACIEL-RODAN SYNDROME
cui	C1415504 C0020179 C4479491
Gene Locus	4p16.3
Gene Symbol	HTT IT15 HD LOMARS
Has allelic variant	http://purl.bioontology.org/ontology/OMIM/613004.0004 http://purl.bioontology.org/ontology/OMIM/613004.0005 http://purl.bioontology.org/ontology/OMIM/613004.0001 http://purl.bioontology.org/ontology/OMIM/613004.0002 http://purl.bioontology.org/ontology/OMIM/613004.0003
MIMTYPEMEANING	Gene with known sequence
notation	613004
OMIM Entry Type	1
OMIM MimType Value	star
prefLabel	HUNTINGTIN
tui	T028 T047

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MESH/D006816	Medical Subject Headings	CUI
http://purl.obolibrary.org/obo/PR_000008840	Protein Ontology	LOOM
http://purl.bmicc.cn/ontology/ICD10CN/G10	International Classification of Diseases, 10th Edition, China	CUI
http://purl.bioontology.org/ontology/LNC/LA27532-3	Logical Observation Identifier Names and Codes	CUI
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C88920	National Cancer Institute Thesaurus	LOOM
http://purl.bioontology.org/ontology/LNC/LP36037-7	Logical Observation Identifier Names and Codes	CUI
http://purl.bioontology.org/ontology/ICD10/G10	International Classification of Diseases, Version 10	CUI
http://purl.bioontology.org/ontology/ICD10CM/G10	International Classification of Diseases, Version 10 - Clinical Modification	CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0020179	MedlinePlus Health Topics	CUI