| Metadata | |
|---|---|
| ID | DOID:0060712 |
| Name | autosomal recessive congenital ichthyosis 4A |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/10094194, https://www.ncbi.nlm.nih.gov/pubmed/20672373 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
ARCI4A [EXACT] ichthyosis congenita IIB [EXACT] ICR2B [EXACT] lamellar ichthyosis 2 [EXACT] |
| Parent Relationships |