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ONTOLOGY REPORT - ANNOTATIONS


Term:fumarase deficiency
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Accession:DOID:0111261 term browser browse the term
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. (DO)
Synonyms:exact_synonym: FMRD;   Fumaric Aciduria;   fumarate hydratase deficiency;   fumaricaciduria
 primary_id: MESH:C538191
 alt_id: DOID:9007598;   OMIM:606812;   RDO:0004133
 xref: GARD:6476;   ORDO:24
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fumarase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fh fumarate hydratase JBrowse link 13 93,651,486 93,677,371 RGD:7240710
RGD:8554872

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Term Annotations click to browse term
  disease 15619
    Nutritional and Metabolic Diseases 4374
      disease of metabolism 4374
        inherited metabolic disorder 1864
          amino acid metabolic disorder 326
            fumarase deficiency 1
Path 2
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        genetic disease 7008
          monogenic disease 4561
            autosomal genetic disease 3515
              autosomal recessive disease 1981
                fumarase deficiency 1
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