autosomal recessive congenital ichthyosis 5 Disease Ontology Browser

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Disease Ontology Browser

autosomal recessive congenital ichthyosis 5 (DOID:0060714)
Alliance: disease page
Synonyms: ARCI5; autosomal recessive congenital nonlamellar and nonerythrodermic ichthyosis
Alt IDs: OMIM:604777, ICD10CM:Q80.2
Definition: An autosomal recessive congenital ichthyosis characterized by fine white or greyish-white scales, hyperkeratosis, moderate acanthosis, and moderate parakeratosis that has_material_basis_in homozygous mutation in the CYP4F22 gene on chromosome 19p13.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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