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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:thiamine-responsive megaloblastic anemia syndrome
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Accession:DOID:0090117 term browser browse the term
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. (DO)
Synonyms:exact_synonym: Abboud syndrome;   Rogers syndrome;   THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA;   THMD1;   TRMA;   thiamine metabolism dysfunction syndrome 1;   thiamine metabolism dysfunction syndrome 1 (megaloblastic anemia, diabetes mellitus, and deafness type);   thiamine responsive myelodysplasia;   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
 primary_id: MESH:C536510
 alt_id: OMIM:249270
 xref: GARD:9210;   ORDO:498277


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thiamine-responsive megaloblastic anemia syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC19A2 solute carrier family 19 member 2 ISO ClinVar Annotator: match by term: Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | ClinVar Annotator: match by term: Thiamine-responsive megaloblastic anemia OMIM
ClinVar		 PMID:9399900 PMID:9856490 PMID:10391221 PMID:10391222 PMID:10391223 More... NCBI chr 1:144,946,248...144,968,736
Ensembl chr 1:148,668,687...148,690,713 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    syndrome 10168
      thiamine-responsive megaloblastic anemia syndrome 1
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      nervous system disease 13293
        Neurologic Manifestations 9644
          sensory system disease 6626
            Otorhinolaryngologic Diseases 1673
              auditory system disease 940
                Hearing Disorders 766
                  Hearing Loss 760
                    sensorineural hearing loss 575
                      thiamine-responsive megaloblastic anemia syndrome 1
paths to the root