All diseases

5 entries on 1 page. Showing entries 1 - 5.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
00328 CMYO1A;CCD myopathy, congenital, type1A, autosomal dominant, with susceptibility to malignant hyperthermia 117000 AD 149 149 RYR1 - -
00329 CMYO1B myopathy, congenital, type 1B, autosomal recessive 255320 AR 22 22 RYR1 - -
07232 KDS King-Denborough syndrome 619542 AD - - RYR1 - -
05449 MHS hyperthermia, malignant, susceptibility (MHS) - - 463 464 CACNA1S, RYR1 - -
00033 MHS1 hyperthermia, malignant, susceptibility, type 1 (MHS-1) 145600 AD 4 3 RYR1 - autosomal dominant
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