| Metadata | |
|---|---|
| ID | DOID:0111261 |
| Name | fumarase deficiency |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/22069215, https://www.ncbi.nlm.nih.gov/pubmed/8200987 |
| Xrefs |
SNOMEDCT_US_2023_03_01:237983002 |
| Subsets |
DO_rare_slim |
| Synonyms |
FMRD [EXACT] fumaric aciduria [EXACT] |
| Parent Relationships |