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About: molybdenum cofactor deficiency type B     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 B
described by
id
  • DOID:0111163
database_cross_reference
  • MESH:C565373
  • OMIM:252160
  • ORDO:308393
  • SNOMEDCT_US_2021_09_01:1003368009
  • UMLS_CUI:C1854989
has_exact_synonym
  • molybdenum cofactor deficiency complementation group B (en)
  • MOCOD type B (en)
  • MOCODB (en)
  • combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type B (en)
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • A molybdenum cofactor deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MOCS2 gene on chromosome 5q11.
is topic of
is annotatedSource of
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