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| Term | gelatinous drop-like corneal dystrophy | ID (Ontology) | DOID:0060449 (Human Disease) |
| 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. | ||
| Also Known As | "corneal amyloidosis" ; "GDCD" ; "primary familial amyloidosis of the cornea" (for all, see Synonyms field below) | ||
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| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal genetic disease |__autosomal recessive disease_____________ corneal dystrophy | |__epithelial and subepithelial dystrophy__| gelatinous drop-like corneal dystrophy |
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| Is a |
autosomal recessive disease epithelial and subepithelial dystrophy |
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External Crossreferences & Linkouts
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MESH:C535480 MIM:204870 NCI:C142805 ORDO:98957 SNOMEDCT_US_2023_03_01:419900000 UMLS_CUI:C0339273 |
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