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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/146550
http://purl.bioontology.org/ontology/OMIM/146550
|
|---|---|
| Preferred Name | HYPOTRICHOSIS 4 |
| Synonyms |
MARIE UNNA HEREDITARY HYPOTRICHOSIS 1
MUHH1
HYPOTRICHOSIS, MARIE UNNA TYPE, 1
HYPT4
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
MARIE UNNA HEREDITARY HYPOTRICHOSIS 1
MUHH1
HYPOTRICHOSIS, MARIE UNNA TYPE, 1
HYPT4
|
|---|---|
| prefLabel | HYPOTRICHOSIS 4
|
| Gene Symbol |
U2HR
HRURF
|
| Scope Statement | Caused by mutation in the HR lysine demethylase and nuclear receptor corepressor gene (HR, 602302.0013) [MOLECULAR BASIS]
|
| type | |
| Has manifestation | |
| tui | T047
|
| Gene Locus | 8p21.2
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 146550
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C2750815
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |