Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
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Preferred Name

HUNTINGTIN
Synonyms

IT15
ID

http://purl.bioontology.org/ontology/OMIM/613004
altLabel

IT15

HTT

HUNTINGTON DISEASE

LOPES-MACIEL-RODAN SYNDROME

HD GENE
cui

C4479491

C0020179

C1415504
Gene Locus

4p16.3
Gene Symbol

IT15

HD

HTT

LOMARS
Has allelic variant

http://purl.bioontology.org/ontology/OMIM/613004.0003

http://purl.bioontology.org/ontology/OMIM/613004.0002

http://purl.bioontology.org/ontology/OMIM/613004.0001

http://purl.bioontology.org/ontology/OMIM/613004.0005

http://purl.bioontology.org/ontology/OMIM/613004.0004
MIMTYPEMEANING

Gene with known sequence
notation

613004
OMIM Entry Type

1
OMIM MimType Value

star
prefLabel

HUNTINGTIN
tui

T047

T028
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/LNC/LP36037-7 LOINC 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/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/PR_000008840 PR LOOM
http://purl.obolibrary.org/obo/PR_000008840 NIFSTD LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C88920 NCIT LOOM
http://www.ncbi.nlm.nih.gov/gene/15194 NIFSTD LOOM
http://purl.obolibrary.org/obo/NCIT_C88920 BERO LOOM
http://uri.neuinfo.org/nif/nifstd/nlx_mol_20090302 NIFSTD LOOM
http://purl.jp/bio/4/id/200906038363615426 IOBC LOOM
http://www.orpha.net/ORDO/Orphanet_122387 ORDO LOOM