| Metadata | |
|---|---|
| ID | DOID:0060710 |
| Name | autosomal recessive congenital ichthyosis 2 |
| Definition | An autosomal recessive congenital ichthyosis characterized by fine scales on the scalp, face, trunk and limbs, marked palmoplantar hyperlinearity, hyperkeratosis, acanthosis, mild hypergranulosis and thickened stratum corneum that has_material_basis_in homozygous or compound heterozygous mutation in the ALOX12B gene on chromosome 17p13. https://www.ncbi.nlm.nih.gov/pubmed/11773004, https://www.ncbi.nlm.nih.gov/pubmed/16116617 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
ARCI2 [EXACT] BROCQ congenital ichthyosiform erythroderma nonbullous form [EXACT] NCIE1 [EXACT] nonbullous congenital ichthyosiform erythroderma 1 [EXACT] |
| Parent Relationships |