| Metadata | |
|---|---|
| ID | DOID:0060717 |
| Name | autosomal recessive congenital ichthyosis 8 |
| Definition | An autosomal recessive congenital ichthyosis characterized by diffuse lamellar ichthyosis, slight facial erythema, hyperkeratosis, orthokeratosis, hypergranulosis, and acanthosis that has_material_basis_in homozygous mutation in the LIPN gene on chromosome 10q23. https://www.ncbi.nlm.nih.gov/pubmed/21439540 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
ARCI8 [EXACT] lamellar ichthyosis 4 [EXACT] late-onset lamellar ichthyosis [EXACT] |
| Parent Relationships |