autosomal recessive congenital ichthyosis 14 Disease Ontology Browser

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Disease Ontology Browser

autosomal recessive congenital ichthyosis 14 (DOID:0080258)
Alliance: disease page
Alt IDs: OMIM:617571
Definition: An autosomal recessive congenital ichthyosis that is characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has_material_basis_in homozygous or compound heterozygous mutation in the SULT2B1 gene on chromosome 19q13.

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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