autosomal recessive congenital ichthyosis 1 (DOID:0060656)
Alliance: disease page
Synonyms: ARCI1; bathing suit ichthyosis
Alt IDs: OMIM:242300, ICD10CM:Q80.2, ORDO:100976, ORDO:281122, ORDO:313
Definition: An autosomal recessive congenital ichthyosis that is characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has_material_basis_in homozygous or compound heterozygous mutation in the TGM1 gene on chromosome 14q11.2.