Autosomal recessive congenital ichthyosis 1

Definition

Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the TGM1 gene.

Also known as ARCI1, autosomal recessive congenital ichthyosis 1, autosomal recessive congenital ichthyosis type 1, ichthyosis, congenital, autosomal recessive type 1 — per MONDO

Also identified as

• DOID 0060656 per MONDO
• MESH D017490 per MONDO
• OMIM 242300 per MONDO
• UMLS C4551630 per MONDO