| Metadata | |
|---|---|
| ID | DOID:0060715 |
| Name | autosomal recessive congenital ichthyosis 6 |
| Definition | An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis, hyperkeratosis, parakeratosis and moderate acanthosis that has_material_basis_in homozygous or compound heterozygous mutation in the NIPAL4 gene on chromosome 5q33. https://www.ncbi.nlm.nih.gov/pubmed/16436457, https://www.ncbi.nlm.nih.gov/pubmed/17557927 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
ARCI6 [EXACT] |
| Parent Relationships |