Term Name: | autosomal recessive congenital ichthyosis 9 |
---|---|
Synonyms: | ARCI9 |
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. |
Ontology: | Human Disease [DOID:0060718] ( DOID:0060718 ) |