| Metadata | |
|---|---|
| ID | DOID:0060714 |
| Name | autosomal recessive congenital ichthyosis 5 |
| Definition | An autosomal recessive congenital ichthyosis characterized by fine white or greyish-white scales, hyperkeratosis, moderate acanthosis, and moderate parakeratosis that has_material_basis_in homozygous mutation in the CYP4F22 gene on chromosome 19p13. https://www.ncbi.nlm.nih.gov/pubmed/10712223, https://www.ncbi.nlm.nih.gov/pubmed/16436457 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
ARCI5 [EXACT] autosomal recessive congenital nonlamellar and nonerythrodermic ichthyosis [EXACT] |
| Parent Relationships |