Search Ontology:
Human Disease
gelatinous drop-like corneal dystrophy
- Term ID
- DOID:0060449
- Synonyms
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- corneal amyloidosis
- GDCD
- primary familial amyloidosis of the cornea
- subepithelial amyloidosis of the cornea
- 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/
- References
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- MESH:C535480
- MIM:204870
- NCI:C142805
- ORDO:98957
- SNOMEDCT_US_2023_03_01:419900000
- UMLS_CUI:C0339273
- Ontology
- Human Disease ( DOID:0060449 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models