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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/607626
http://purl.bioontology.org/ontology/OMIM/607626
|
|---|---|
| Preferred Name | ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS |
| Synonyms |
ICHTHYOSIS-SCLEROSING CHOLANGITIS SYNDROME
NEONATAL ICHTHYOSIS-SCLEROSING CHOLANGITIS SYNDROME
NISCH SYNDROME
ILVASC
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
ICHTHYOSIS-SCLEROSING CHOLANGITIS SYNDROME
NEONATAL ICHTHYOSIS-SCLEROSING CHOLANGITIS SYNDROME
NISCH SYNDROME
ILVASC
|
|---|---|
| prefLabel | ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS
|
| Gene Symbol |
SEMP1
ILVASC
CLDN1
|
| notation | 607626
|
| Scope Statement | Caused by mutations in the claudin-1 gene (CLDN1, 603718.0001) [MOLECULAR BASIS]
|
| OMIM MimType Value | pound
|
| Has inheritance type | |
| Semantic type UMLS property | |
| OMIM Entry Type | 3
|
| type | |
| Has manifestation |
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|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| Gene Locus | 3q28-q29
|
| tui | T047
|
| cui | C1843355
|
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