ZFIN Human Disease: gelatinous drop-like corneal dystrophy

OBO ID: DOID:0060449

Term Name:	gelatinous drop-like corneal dystrophy		Search Ontology:
Synonyms:	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:	MESH:C535480 NCI:C142805 OMIM:204870 ORDO:98957 SNOMEDCT_US_2023_03_01:419900000 UMLS_CUI:C0339273
Ontology:	Human Disease ( DOID:0060449 )

Relationships

is a type of:	autosomal recessive disease epithelial and subepithelial dystrophy autosomal recessive disease epithelial and subepithelial dystrophy Show first 5 Terms

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Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
TACSTD2		Corneal dystrophy, gelatinous drop-like

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None