FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
Help Close All Open All
General Information
Term fumarase deficiency ID (Ontology) DOID:0111261 (Human Disease)
Definition An amino acid metabolic disorder characterized by metabolic acidosis, elevated levels of fumaric acid in the urine, early-onset hypotonia, profound psychomotor retardation, and brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in FH on 1q43.
Also Known As "FMRD" ; "fumaric aciduria"
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
 fumarase deficiency       4
 for disease ribbon | fumarase deficiency       4
 model of | fumarase deficiency       4
Spanning Tree (Parents/Children)
Only view relationship: 
autosomal genetic disease
 |__autosomal recessive disease____
inherited metabolic disorder       |
 |__amino acid metabolic disorder__|
                                   fumarase deficiency  4 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
  • "FMRD" EXACT OMO:0003012
    "fumaric aciduria" EXACT
Secondary IDs
hide External Crossreferences & Linkouts
GARD:6476
MESH:C538191
MIM:606812
ORDO:24
SNOMEDCT_US_2023_03_01:237983002
UMLS_CUI:C0342770
UMLS_CUI:C2936826