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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
  • alkaptonuria
comment
  • OMIM mapping confirmed by DO. [SN].
has exact match
  • MESH:D000474
described by
id
  • DOID:9270
has_alternative_id
  • DOID:0050714
database_cross_reference
  • GARD:5775
  • ICD10CM:E70.29
  • MESH:D000474
  • NCI:C84546
  • OMIM:203500
  • ORDO:56
  • SNOMEDCT_US_2021_09_01:24250001
  • UMLS_CUI:C0002066
has_exact_synonym
  • Homogentisate 1,2-dioxygenase deficiency (en)
  • alcaptonuria (en)
has_obo_namespace
  • disease_ontology
has_related_synonym
  • deficiency of homogentisicase (en)
in_subset
http://purl.obolib...g/obo/IAO_0000115
  • An amino acid metabolic disorder that involves phenylalanine and tyrosine metabolism with the accumulation of homogentisic acid, a toxic tyrosine byproduct.
is topic of
is annotatedSource of
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