Human genes for thiamine-responsive megaloblastic anemia syndrome
Thiamine-responsive megaloblastic anemia syndrome [DOID:0090117]
A syndrome that is characterized by megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness where the anemia and sometimes diabetes is repsonsive to high doses of thiamine, and that has_material_basis_in homozygous mutation in the solute carrier family 19 member 2 (SLC19A2) gene on chromosome 1q24.
Synonyms: thiamine-responsive megaloblastic anemia syndrome, DOID:0090117, thiamineresponsive megaloblastic anemia syndrome, thiamine-responsive megaloblastic anemia disease, thiamine-responsive megaloblastic anemia disorder ...