| 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 ) |