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FNS-Harmony
Last uploaded:
November 2, 2023
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| Preferred Name | fumarase deficiency | |
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| Definitions |
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. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0111261 |
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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.
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| label |
fumarase deficiency
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| prefixIRI |
DOID:0111261
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| prefLabel |
fumarase deficiency
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