Autosomal recessive congenital ichthyosis 4A

Definition

Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the ABCA12 gene.

Also known as ARCI4A, autosomal recessive congenital ichthyosis type 4A, ichthyosis, congenital, autosomal recessive type 4A, ICR2B — per MONDO

Also identified as

• DOID 0060712 per MONDO
• MESH C537264 per MONDO
• OMIM 601277 per MONDO
• UMLS C1832550 per MONDO