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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/612281
http://purl.bioontology.org/ontology/OMIM/612281
|
|---|---|
| Preferred Name | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 |
| Synonyms |
ARCI6
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE, NIPAL4-RELATED
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
ARCI6
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE, NIPAL4-RELATED
|
|---|---|
| prefLabel | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6
|
| Gene Symbol |
ICHYN
ARCI6
NIPAL4
|
| Scope Statement | Severity of skin symptoms may vary within families [MISCELLANEOUS]
Caused by mutation in the NIPA-like domain-containing 4 gene (NIPAL4, 609383.0001) [MOLECULAR BASIS]
Some patients report cyclical changes in severity of symptoms [MISCELLANEOUS]
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| type | |
| Has manifestation |
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| tui | T047
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| Gene Locus | 5q33
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 612281
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C2677065
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |