All diseases

6 entries on 1 page. Showing entries 1 - 6.

ID     

AscendingAbbreviation     

Name     

OMIM ID     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
02592 - glaucoma, normal tension, susceptibility to 606657 0 0 OPA1, OPTN - -
05289 BEHRS syndrome, Behr (BEHRS) 210000 0 0 OPA1 - autosomal recessive; early-onset optic atrophy accompanied by neurologic features, including ataxia, pyramidal signs, spasticity and mental retardation
05290 MTDPS-14 mitochondrial DNA depletion syndrome, type 14 (MTDPS-14) 616896 0 0 OPA1 - -
04293 OPA atrophy, optic (OPA) - 620 576 ACO2, DNM1L, OPA1, OPA3, RTN4IP1, TMEM126A, YME1L1 - -
01277 OPA+ atrophy, optic, plus syndrome (OPA+) 125250 1 0 OPA1 - autosomal dominant
01477 OPA-1 atrophy, optic, type 1 (OPA-1) 165500 7 6 OPA1 - autosomal dominant