FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
Help Close All Open All
General Information
Term thiamine-responsive megaloblastic anemia syndrome ID (Ontology) DOID:0090117 (Human Disease)
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.
Also Known As "Rogers syndrome" ; "thiamine metabolism dysfunction syndrome 1" ; "thiamine-responsive anaemia syndrome" (for all, see Synonyms field below)
Comment
Links to External Ontologies
DO.org
Annotations
Records annotated with this term OR any of its CHILD TERMS
    Results list data from multiple species. Click on a button above and use the 'Filter by species' options on the resulting HitList to retrieve species-specific data.
Records annotated with this exact term (annotations to child terms are NOT included)
No relevant records available
show Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
 Full annotation statements 
Relevant FlyBase reports
 Genes
 thiamine-responsive megaloblastic anemia syndrome       1
 for disease ribbon | thiamine-responsive megaloblastic anemia syndrome       1
 model of | thiamine-responsive megaloblastic anemia syndrome       1
Spanning Tree (Parents/Children)
Only view relationship: 
autosomal genetic disease
 |__autosomal recessive disease__
disease                          |
 |__syndrome_____________________|
                                 thiamine-responsive megaloblastic anemia syndrome  1 rec.
Spanning Tree View Settings
Parents/Children
View Depth
Show hierarchy levels: for parents, for children
hide Relationships
Is a autosomal recessive disease
syndrome
Part of
hide Synonyms & Secondary IDs
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 OMO:0003012
    "TRMA" EXACT OMO:0003012
Secondary IDs
hide External Crossreferences & Linkouts
GARD:9210
MESH:C536510
MIM:249270
ORDO:498277
SNOMEDCT_US_2023_03_01:237617006
UMLS_CUI:C0342287