All diseases

2 entries on 1 page. Showing entries 1 - 2.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
04062 BBSOAS Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) 615722 AD 18 17 NR2F1 - -
05684 neuropathy, optic neuropathy, optic - - 237 222 ACO2, DNM1L, MFN2, NR2F1, OPA1, RTN4IP1, SPG7, SSBP1 - -
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