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ONTOLOGY REPORT - ANNOTATIONS


Term:thiamine-responsive megaloblastic anemia syndrome
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Accession:DOID:0090117 term browser browse the term
Definition:An autosomal recessive disease 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. (DO)
Synonyms:exact_synonym: Abboud syndrome;   Megaloblastic Anemia, Thiamine-Responsive, With Diabetes Mellitus And Sensorineural Deafness;   Rogers syndrome;   THIAMINE METABOLISM DYSFUNCTION SYNDROME 1 (MEGALOBLASTIC ANEMIA, DIABETES MELLITUS, AND DEAFNESS TYPE);   THMD1;   TRMA;   thiamine metabolism dysfunction syndrome 1;   thiamine responsive myelodysplasia;   thiamine-responsive anemia syndrome
 primary_id: MESH:C536510;   RDO:0002115
 alt_id: OMIM:249270
 xref: GARD:9210;   ORDO:498277
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thiamine-responsive megaloblastic anemia syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc19a2 solute carrier family 19 member 2 JBrowse link 13 82,552,586 82,566,586 RGD:7240710
RGD:8554872

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Term Annotations click to browse term
  disease 15620
    syndrome 5159
      thiamine-responsive megaloblastic anemia syndrome 1
Path 2
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  disease 15620
    Nutritional and Metabolic Diseases 4374
      disease of metabolism 4374
        acquired metabolic disease 2701
          nutrition disease 845
            Malnutrition 176
              nutritional deficiency disease 169
                Avitaminosis 105
                  Vitamin B Deficiency 64
                    thiamine deficiency disease 4
                      thiamine-responsive megaloblastic anemia syndrome 1
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