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About: molybdenum cofactor deficiency type C     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
  • molybdenum cofactor deficiency type C
described by
id
  • DOID:0111166
database_cross_reference
  • MESH:C565374
  • OMIM:615501
  • ORDO:308400
  • SNOMEDCT_US_2021_09_01:1003387003
  • UMLS_CUI:C1854990
has_exact_synonym
  • combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type C (en)
  • MOCOD type C (en)
  • MOCODC (en)
  • molybdenum cofactor deficiency complementation group C (en)
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • A molybdenum cofactor deficiency that has_material_basis_in homozygous mutation in the GPHN gene on chromosome 14q23.
is topic of
is annotatedSource of
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