Term Name: | autosomal recessive congenital ichthyosis 10 |
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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 ) |