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

Xref MGI.

AttributesValues
type
subClassOf
label
  • homocystinuria
comment
  • Xref MGI.
described by
id
  • DOID:9263
database_cross_reference
  • GARD:10770
  • ICD10CM:E72.11
  • MESH:D006712
  • NCI:C84765
  • OMIM:236200
  • OMIM:236250
  • ORDO:394
  • SNOMEDCT_US_2021_09_01:190709008
  • UMLS_CUI:C0019880
has_exact_synonym
  • CBS deficiency (en)
  • cystathionine beta synthase deficiency (en)
  • cystathionine synthase deficiency (en)
has_obo_namespace
  • disease_ontology
in_subset
http://purl.obolib...g/obo/IAO_0000115
  • An amino acid metabolic disorder that involves an accumulation of homocysteine in the serum and an increased excretion of homocysteine in the urine.
is topic of
is annotatedSource of
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