autosomal recessive congenital ichthyosis 4A Disease Ontology Browser

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Disease Ontology Browser

autosomal recessive congenital ichthyosis 4A (DOID:0060712)
Alliance: disease page
Synonyms: ARCI4A; ichthyosis congenita IIB; ICR2B; lamellar ichthyosis 2
Alt IDs: OMIM:601277, ICD10CM:Q80.2
Definition: An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis and ectropion that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA12 gene on chromosome 2q35.

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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