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About: maple syrup urine disease     Goto   Sponge   NotDistinct   Permalink

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

Xref MGI. OMIM mapping confirmed by DO. [SN].

AttributesValues
type
subClassOf
label
  • maple syrup urine disease
comment
  • Xref MGI. OMIM mapping confirmed by DO. [SN].
described by
id
  • DOID:9269
database_cross_reference
  • GARD:3228
  • ICD10CM:E71.0
  • MESH:D008375
  • NCI:C34806
  • OMIM:246900
  • OMIM:248600
  • OMIM:615135
  • ORDO:511
  • SNOMEDCT_US_2021_09_01:27718001
  • UMLS_CUI:C0024776
has_exact_synonym
  • Ketoacidaemia (en)
  • branched chain ketoaciduria (en)
has_obo_namespace
  • disease_ontology
has_related_synonym
  • dihydrolipoamide dehydrogenase deficiency (en)
  • dihydrolipoamide dehydrogenase deficiency
in_subset
http://purl.obolib...g/obo/IAO_0000115
  • An organic acidemia that is caused by a deficiency of decarboxylase leading to high concentrations of valine, leucine, isoleucine, and alloisoleucine in the blood, urine, and cerebrospinal fluid and characterized by an odor of maple syrup to the urine, vomiting, hypertonicity, severe mental retardation, seizures, and eventually death unless the condition is treated with dietary measures.
is topic of
is annotatedSource of
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