OBO ID: DOID:0060449 |
Term Name: | gelatinous drop-like corneal dystrophy | Search Ontology: | |
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Synonyms: |
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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. https://pubmed.ncbi.nlm.nih.gov/10192395/ | ||
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Ontology: | Human Disease ( DOID:0060449 ) |
OTHER gelatinous drop-like corneal dystrophy PAGES
GENES INVOLVED
Human Gene | Zebrafish Ortholog | OMIM Term | OMIM Phenotype ID |
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TACSTD2 | Corneal dystrophy, gelatinous drop-like |
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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