FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
Help Close All Open All
General Information
Term homocystinuria-megaloblastic anemia cblG type ID (Ontology) DOID:0112256 (Human Disease)
Definition An amino acid metabolic disorder characterized by failure of cells to incorporate methyltetrahydrofolate into methionine, impaired methionine synthase activity in the presence of a reducing agent, and somewhat variable features that include delayed psychomotor development, hypotonia, megaloblastic anemia, homocystinuria, and hypomethioninemia that has_material_basis_in homozygous or compound heterozygous mutation in MTR on chromosome 1q43.
Also Known As "HMAG" ; "homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism cblG complementation type" ; "homocystinuria-megaloblastic anemia, cblG complementation type" (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
 homocystinuria-megaloblastic anemia cblG type       2
 for disease ribbon | homocystinuria-megaloblastic anemia cblG type       2
 model of | homocystinuria-megaloblastic anemia cblG type       2
Spanning Tree (Parents/Children)
Only view relationship: 
autosomal genetic disease
 |__autosomal recessive disease____
inherited metabolic disorder       |
 |__amino acid metabolic disorder__|
                                   homocystinuria-megaloblastic anemia cblG type  2 rec.
Spanning Tree View Settings
Parents/Children
View Depth
Show hierarchy levels: for parents, for children
hide Relationships
Is a autosomal recessive disease
amino acid metabolic disorder
Part of
hide Synonyms & Secondary IDs
Synonyms
  • "HMAG" EXACT OMO:0003012
    "homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism cblG complementation type" EXACT
    "homocystinuria-megaloblastic anemia, cblG complementation type" EXACT
    "methylcobalamin deficiency, cblG type" EXACT
Secondary IDs
hide External Crossreferences & Linkouts
GARD:3577
MIM:250940
ORDO:2170