Ichthyosis, congenital, autosomal recessive 12

Definition

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

Also known as ARCI12, ichthyosis, congenital, autosomal recessive 12, ichthyosis, congenital, autosomal recessive 12; ARCI12, ichthyosis, congenital, autosomal recessive type 12 — per MONDO

Also identified as

• OMIM 617320 per MONDO
• UMLS C4310621 per MONDO