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

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/D006816 Medical Subject Headings / 医学主题词表 CUI
http://purl.obolibrary.org/obo/PR_000008840 Protein Ontology / 蛋白质本体 LOOM
http://purl.bmicc.cn/ontology/ICD10CN/G10 《国际疾病分类》第10版中文版 / International Classification of Diseases, 10th Edition, China CUI
http://purl.bioontology.org/ontology/LNC/LA27532-3 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 CUI
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C88920 National Cancer Institute Thesaurus / 美国国家癌症研究所词典 LOOM
http://purl.bioontology.org/ontology/LNC/LP36037-7 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 CUI
http://purl.bioontology.org/ontology/ICD10/G10 International Classification of Diseases, Version 10 / 《国际疾病分类》第10版 CUI
http://purl.bioontology.org/ontology/ICD10CM/G10 International Classification of Diseases, Version 10 - Clinical Modification / 国际疾病分类,第10版-临床修改 CUI
http://www.orpha.net/ORDO/Orphanet_122387 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0020179 MedlinePlus Health Topics / MedlinePlus网站健康主题 CUI