Disease Term Disease ID Gene Symbol References
Butterfly-shaped pigment dystrophy 99001 PRPH2
OTX2
CTNNA1
Macular Dystrophy, Butterfly-Shaped Pigmentary, 2 C1837029 CTNNA1 26691986
PRPH2
MAPKAPK3
Butterfly-shaped pigmentary macular dystrophy C4511237 CTNNA1 26691986
OTX2 25293953
PRPH2 8485574
MACULAR DYSTROPHY, PATTERNED, 1 C4551999 PRPH2 16024869, 9443872, 26796962, 8485574
MACULAR DYSTROPHY, PATTERNED, 3 C4310713 MAPKAPK3 26744326
Martinique crinkled retinal pigment epitheliopathy 466718 MAPKAPK3