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DOID:0090117 - thiamine-responsive megaloblastic anemia syndrome
Disease Ontology Definition: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: Rogers syndrome, THMD1, TRMA, thiamine metabolism dysfunction syndrome 1, thiamine metabolism dysfunction syndrome 1 (megaloblastic anemia, diabetes mellitus and deafness type), thiamine-responsive anaemia syndrome, thiamine-responsive anemia syndrome, thiamine-responsive megaloblastic anaemia syndrome, thiamine-responsive megaloblastic anaemia with diabetes mellitus and sensorineural deafness, thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness, thiamine-responsive myelodysplasia,
Xenbase Genes
:
slc19a2,
slc19a3.2
| MONDO:0009575 - thiamine-responsive megaloblastic anemia syndrome |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal recessive disease (is_a),
syndrome (is_a)