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
05212 AMDME ataxia, myoclonia, dysarthria, muscle weakness, exercise intolerance - - 1 1 SLC25A32 brain;skeletal muscle severe neuromuscular phenotype
02981 MPCD Mi phosphate carrier deficiency 610773 - - - SLC25A3 - -
05211 RREI intolerance, excercise, riboflavin-responsive (RREI) 616839 AR 2 2 SLC25A32 - -
05443 SIDBA anemia, sideroblastic (SIDBA) - - 16 17 ALAS2, GLRX5, HSPA9, SLC25A38 - -
01655 SIDBA2 anemia, sideroblastic, type 2, pyridoxine-refractory (SIDBA-2) 205950 AR - - SLC25A38 - autosomal recessive
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