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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/602400
http://purl.bioontology.org/ontology/OMIM/602400
|
|---|---|
| Preferred Name | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 11 |
| Synonyms |
ICHTHYOSIS AND FOLLICULAR ATROPHODERMA WITH HYPOTRICHOSIS AND HYPOHIDROSIS
ARIH
ICHTHYOSIS WITH HYPOTRICHOSIS, AUTOSOMAL RECESSIVE
ARCI11
IFAH
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
ICHTHYOSIS AND FOLLICULAR ATROPHODERMA WITH HYPOTRICHOSIS AND HYPOHIDROSIS
ARIH
ICHTHYOSIS WITH HYPOTRICHOSIS, AUTOSOMAL RECESSIVE
ARCI11
IFAH
|
|---|---|
| prefLabel | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 11
|
| Gene Symbol |
MTSP1
ARCI11
ST14
|
| Scope Statement | Caused by mutation in the ST14 transmembrane serine protease matriptase gene (ST14, 606797.0001) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 11q24-q25
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 602400
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1835851
|
| Moved from | 610765
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |