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Summary Literature (0)
DOID:0060456 - Schnyder corneal dystrophy

Disease Ontology Definition:A stromal dystrophy that is characterized by abnormal deposition of cholesterol and phospholipids in the cornea and that has_material_basis_in heterozygous mutation in the UBAID1 gene on chromosome 1p36.

Synonyms: corneal dystrophy crystalline of Schnyder, crystalline stromal dystrophy, hereditary crystalline stromal dystrophy of Schnyder, SCCD, Schnyder crystalline corneal dystrophy

Xenbase Genes : ubiad1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0007374 - Schnyder corneal dystrophy

MIM:
MIM:121800 - SCHNYDER CORNEAL DYSTROPHY; SCCD

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a), stromal dystrophy (is_a)