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ornithine aminotransferase deficiency

Disease Summary
Associated Targets (1)
Tchem

1


GARD Rare
Mondo Description Gyrate atrophy of the choroid and retina (GACR) is a very rare, inherited retinal dystrophy, characterized by progressive chorioretinal atrophy, myopia and early cataract.
Uniprot Description A disorder clinically characterized by a triad of progressive chorioretinal degeneration, early cataract formation, and type II muscle fiber atrophy. Characteristic chorioretinal atrophy with progressive constriction of the visual fields leads to blindness at the latest during the sixth decade of life. Patients generally have normal intelligence.
Mondo Term and Equivalent IDs
MONDO:0009796:  ornithine aminotransferase deficiency
GARD:0006556: 
GARD:0007272: 
MESH:C538071: 
MESH:D015799: 
NCIT:C84744: 
Orphanet:414: 
UMLS:C0018425: