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retinal cone dystrophy 4

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Any cone dystrophy in which the cause of the disease is a mutation in the CACNA2D4 gene.
Uniprot Description Characterized by minimal symptoms except for slowly progressive reduction in visual acuity.
Mondo Term and Equivalent IDs
MONDO:0012507:  retinal cone dystrophy 4
GARD:0010650: 
MESH:C566470: 
UMLS:C1864849: