All diseases

7 entries on 1 page. Showing entries 1 - 7.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
05289 BEHRS Behr syndrome (BEHRS) 210000 AR - - OPA1 - autosomal recessive; early-onset optic atrophy accompanied by neurologic features, including ataxia, pyramidal signs, spasticity and mental retardation
05290 MTDPS14 mitochondrial DNA depletion syndrome, type 14 (MTDPS-14) 616896 - - - OPA1 - -
05684 neuropathy, optic neuropathy, optic - - 303 288 ACO2, DNM1L, MFN2, NR2F1, OPA1, RTN4IP1, SPG7, SSBP1 - -
02592 NTG glaucoma, normal tension, susceptibility to 606657 - - - OPA1, OPTN - -
04293 OPA atrophy, optic (OPA) - - 893 794 ACO2, DNM1L, OPA1, OPA3, RTN4IP1, SSBP1, TMEM126A, YME1L1 - -
01277 OPA+ atrophy, optic, plus syndrome (OPA+) 125250 AD 1 - OPA1 - autosomal dominant
01477 OPA1 atrophy, optic, type 1 (OPA-1) 165500 AD 50 42 OPA1 - autosomal dominant
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