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DOID:0060714 - autosomal recessive congenital ichthyosis 5
Disease Ontology 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.
Synonyms: ARCI5, autosomal recessive congenital nonlamellar and nonerythrodermic ichthyosis,
Echinobase Genes :
MIM:604777 - ichthyosis, congenital, autosomal recessive 5; arci5 |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee