ichthyosis, congenital, autosomal recessive 12

Rare Disease

MONDO:0015018

Also Known As

ARCI12ichthyosis, congenital, autosomal recessive 12ichthyosis, congenital, autosomal recessive 12; ARCI12ichthyosis, congenital, autosomal recessive type 12

Definition

Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the CASP14 gene.

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Associated Genes

CASP14 ↗

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:617320 ↗

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