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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/616760
http://purl.bioontology.org/ontology/OMIM/616760
|
|---|---|
| Preferred Name | WOOLLY HAIR, AUTOSOMAL RECESSIVE 3 |
| Synonyms |
WOOLLY HAIR, AUTOSOMAL RECESSIVE 3, WITH HYPOTRICHOSIS
ARWH3
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
WOOLLY HAIR, AUTOSOMAL RECESSIVE 3, WITH HYPOTRICHOSIS
ARWH3
|
|---|---|
| prefLabel | WOOLLY HAIR, AUTOSOMAL RECESSIVE 3
|
| Gene Symbol |
K25
ARWH3
KRT24IRS1
KRT25
|
| Scope Statement | Hair is soft, short, and sparse initially, but develops into woolly hair in early childhood [MISCELLANEOUS]
Caused by mutation in the type I keratin-25 gene (KRT25, 616646.0001) [MOLECULAR BASIS]
Affected individuals cut hair only once every 3 to 4 years [MISCELLANEOUS]
Abnormalities observed in 70% of hair shafts examined [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 17q21.2
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 616760
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C4225214
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |