OBO ID: DOID:0111261 |
Term Name: | fumarase deficiency | Search Ontology: | |
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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. (2) | ||
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Ontology: | Human Disease ( DOID:0111261 ) |
OTHER fumarase deficiency PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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