| Metadata | |
|---|---|
| ID | DOID:0090117 |
| Name | thiamine-responsive megaloblastic anemia syndrome |
| 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. https://ghr.nlm.nih.gov/condition/thiamine-responsive-megaloblastic-anemia-syndrome, https://www.ncbi.nlm.nih.gov/books/NBK1282/, https://www.omim.org/entry/249270 |
| Xrefs |
SNOMEDCT_US_2023_03_01:237617006 |
| Subsets |
DO_rare_slim |
| Synonyms |
Rogers syndrome [EXACT] thiamine metabolism dysfunction syndrome 1 [EXACT] thiamine-responsive anaemia syndrome [EXACT] thiamine-responsive anemia syndrome [EXACT] thiamine-responsive megaloblastic anaemia syndrome [EXACT] thiamine-responsive megaloblastic anaemia with diabetes mellitus and sensorineural deafness [EXACT] thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness [EXACT] thiamine-responsive myelodysplasia [EXACT] THMD1 [EXACT] TRMA [EXACT] |
| Parent Relationships |
is_a syndrome |