gelatinous drop-like corneal dystrophy

Summary

DOID:0060449 - gelatinous drop-like corneal dystrophy

Disease Ontology Definition:An epithelial and subepithelial dystrophy that is characterized by severe corneal amyloidosis leading to blindness and that has_material_basis_in homozygous or compound heterozygous mutation in the TACSTD2 gene which encodes the monoclonal antibody-defined, tumor-associated antigen GA733-1, on chromosome 1p32.

Synonyms: corneal amyloidosis, GDCD, primary familial amyloidosis of the cornea, subepithelial amyloidosis of the cornea

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

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Mondo Disease Ontology (on Monarch Initiative):

MONDO:0008777 - gelatinous drop-like corneal dystrophy

MONDO:0008777 - gelatinous drop-like corneal dystrophy

MIM:

MIM:204870 - CORNEAL DYSTROPHY, GELATINOUS DROP-LIKE; GDLD

MIM:204870 - CORNEAL DYSTROPHY, GELATINOUS DROP-LIKE; GDLD

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), epithelial and subepithelial dystrophy (is_a)