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 CCD central core disease (CCD) 117000 AD;AR 145 145 RYR1 - -
01959 CFTD myopathy, congenital, with fiber type disproportion (CFTD) 255310 AD;AR 55 52 ACTA1, MYH7, RYR1, SEPN1, TPM2, TPM3 - -
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
00329 MMD myopathy, minicore, external ophthalmoplegia (MMD) 255320 AR 21 21 RYR1 - -
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