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About: fumarase deficiency     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

AttributesValues
type
subClassOf
label
  • fumarase deficiency
described by
id
  • DOID:0111261
database_cross_reference
  • GARD:6476
  • MESH:C538191
  • OMIM:606812
  • ORDO:24
  • SNOMEDCT_US_2021_09_01:237983002
  • UMLS_CUI:C0342770
  • UMLS_CUI:C2936826
has_exact_synonym
  • FMRD (en)
  • fumaric aciduria (en)
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • 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.
is topic of
is annotatedSource of
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