Term Name: | autosomal recessive congenital ichthyosis 4A |
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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 ) |