| Metadata | |
|---|---|
| ID | DOID:0060718 |
| Name | autosomal recessive congenital ichthyosis 9 |
| Definition | An autosomal recessive congenital ichthyosis characterized by fine erythrodermic scales, palmoplantar hyperlinearity, thick orthohyperkeratosis, hypergranulosis, moderate acanthosis and mild alopecia that has_material_basis_in homozygous mutation in the CERS3 gene on chromosome 15q26. https://www.ncbi.nlm.nih.gov/pubmed/23754960, https://www.ncbi.nlm.nih.gov/pubmed/21093221 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
ARCI9 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
disease has basis in some Abnormality of prenatal development or birth |