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Online Mendelian Inheritance in Man
Last uploaded:
January 16, 2025
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| Id | http://purl.bioontology.org/ontology/OMIM/613004
http://purl.bioontology.org/ontology/OMIM/613004
|
|---|---|
| Preferred Name | HUNTINGTIN |
| Synonyms |
IT15
HTT
HUNTINGTON DISEASE
LOPES-MACIEL-RODAN SYNDROME
HD GENE
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
IT15
HTT
HUNTINGTON DISEASE
LOPES-MACIEL-RODAN SYNDROME
HD GENE
|
|---|---|
| prefLabel |
HUNTINGTIN
|
| Gene Symbol |
IT15
HD
HTT
LOMARS
|
| notation |
613004
|
| Has allelic variant | |
| OMIM MimType Value |
star
|
| Semantic type UMLS property | |
| OMIM Entry Type |
1
|
| type | |
| MIMTYPEMEANING |
Gene with known sequence
|
| Gene Locus |
4p16.3
|
| Phenotype of | |
| tui |
T047
T028
|
| cui |
C4479491
C0020179
C1415504
|
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