All diseases

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

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
05834 EL3 elliptocytosis, type 3 (EL3, anemia, neonatal hemolytic, fatal or near-fatal) 617948 - - - SPTB - -
05945 NEDHND neurodevelopmental disorder with hypotonia, neuropathy, and deafnes (NEDHND) 617519 AR - - SPTBN4 - -
00142 SCA5 ataxia, spinocerebellar, type 5 (SCA-5) 600224 AD 9 8 SPTBN2 - -
03921 SCAR14 ataxia, spinocerebellar, autosomal recessive, type 14 (SCAR-14) 615386 AR 1 1 SPTBN2 - -
05833 SPH spherocytosis (SPH) - - 2 2 ANK1, EPB42, SLC4A1, SPTB - -
05832 SPH2 spherocytosis, type 2 (SPH2) 616649 AD - - SPTB - -
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