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DOID:0060712 - autosomal recessive congenital ichthyosis 4A
Disease Ontology Definition:An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis and ectropion that has_material_basis_in homozygous or compound hetrezogyous mutation in the ABCA12 gene on chromosome 2q35.
Synonyms: ARCI4A, ICR2B, ichthyosis congenita IIB, lamellar ichthyosis 2,
Echinobase Genes :
MIM:601277 - ichthyosis, congenital, autosomal recessive 4a; arci4a |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee