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Entry | Name | Description | Category | Pathway | Gene |
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H02231 | Optic disc anomalies with retinal and/or macular dystrophy | ... dystrophy (ODRMD) is an autosomal recessive ocular disorder. It has been reported that a homozygous SIX6 mutation is associated with optic disc anomalies and macular atrophy and reduces retinal ganglion ... | Congenital malformation | SIX6 [HSA:4990] [KO:K19473] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |