Term Name: autosomal recessive congenital ichthyosis 10
Synonyms: ARCI10
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.
Ontology: Human Disease [DOID:0060719]   ( DOID:0060719 )

Relationships
is a type of: autosomal recessive congenital ichthyosis