All diseases

3 entries on 1 page. Showing entries 1 - 3.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
05113 CMT Charcot-Marie-Tooth disease (CMT) - - 1100 1037 ATP1A1, DHX9, MFN2, MORC2, PLEKHG5, TRIM2, VWA1 - -
07221 MRD75 intellectual developmental disorder, autosomal dominant, type 75 620988 AD - - DHX9 - -
05611 NDD neurodevelopmental disorder (NDD) - - 4453 4273 ACBD6, ADARB1, AP1G1, ARFGEF1, ATG12, ATP9A, CAMK2D, CAMSAP1, CAPRIN1, CASP2, CHASERR, CHKA, CLCN3, CPSF3L, DDB1, DENND5B, DHX30, DHX9, DOHH, DOT1L, 94 more - -
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