autosomal recessive congenital ichthyosis 10 (DOID:0060719)
Alliance: disease page
Synonyms: ARCI10
Alt IDs: OMIM:615024, ICD10CM:Q80.2
Definition: An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis, moderade erythroderma, palmoplantar keratoderma and hypergranulosis that has_material_basis_in homozygous mutation in the PNPLA1 gene on chromosome 6p21.