Term Name: autosomal recessive congenital ichthyosis 4A
Synonyms: ARCI4A, ichthyosis congenita IIB, ICR2B, lamellar ichthyosis 2
Definition: An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis and ectropion that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA12 gene on chromosome 2q35.
Ontology: Human Disease [DOID:0060712]   ( DOID:0060712 )

Relationships
is a type of: autosomal recessive congenital ichthyosis