All diseases

4 entries on 1 page. Showing entries 1 - 4.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
00856 MTDPS11 mitochondrial DNA depletion syndrome, type 11 (MTDPS-11) 615084 AR 2 2 MGME1 - -
01970 NBLST1 neuroblastoma, susceptibility to, type 1 (NBLST-1) 256700 AD;SMu - - KIF1B, NME1 - -
04293 OPA atrophy, optic (OPA) - - 1065 966 ACO2, DNM1L, OPA1, OPA3, RTN4IP1, SSBP1, TMEM126A, YME1L1 - -
05500 OPA11 atrophy, optic, type 11 (OPA-11) 617302 AR - - YME1L1 - autosomal recessive
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