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About: pyruvate carboxylase deficiency disease     Goto   Sponge   NotDistinct   Permalink

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

OMIM mapping confirmed by DO. [SN].

AttributesValues
type
subClassOf
label
  • pyruvate carboxylase deficiency disease
comment
  • OMIM mapping confirmed by DO. [SN].
described by
id
  • DOID:3651
database_cross_reference
  • ICD10CM:E74.4
  • MESH:D015324
  • NCI:C85040
  • OMIM:266150
  • SNOMEDCT_US_2021_09_01:87694001
  • UMLS_CUI:C0034341
has_exact_synonym
  • deficiency of pyruvic carboxylase (en)
has_obo_namespace
  • disease_ontology
in_subset
http://purl.obolib...g/obo/IAO_0000115
  • A carbohydrate metabolic disorder that is characterized by deficiency of pyruvate carboxylase causing decreased utilization of carbohydrates and toxic accumulation of lactic acid, possibly has_symptom periodic lactate elevations, gastrointestinal upset, neonatal onset of metabolic acidosis, failure to thrive, developmental delay, seizures, death, and has_material_basis_in autosomal recessive inheritance of mutation in the PC gene, which encodes pyruvate carboxylase, a critical protein in the citric acid cycle and in gluconeogenesis.
is topic of
is annotatedSource of
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