Ichthyosis, congenital, autosomal recessive 12

Preferred Label : Ichthyosis, congenital, autosomal recessive 12;

Symbol : ARCI12;

CISMeF acronym : ARCI12;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the caspase 14, apoptosis-related cystein protease gene (CASP14, 605848.0001);

Prefixed ID : #617320;

Details

Origin ID

617320;

UMLS CUI

C4310621;

Genes related to phenotype
- Caspase 14, apoptosis-related cysteine protease [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- White scaling skin [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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