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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
  • blue color blindness
comment
  • OMIM mapping confirmed by DO. [SN].
described by
id
  • DOID:11661
database_cross_reference
  • ICD10CM:H53.55
  • ICD9CM:368.53
  • MESH:D003117
  • OMIM:190900
  • SNOMEDCT_US_2021_09_01:51886007
  • UMLS_CUI:C0155017
has_exact_synonym
  • Tritan defect (en)
  • Tritanopia (en)
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • A color blindness that is characterised by a selective deficiency of blue vision, has_material_basis_in autosomal dominant inheritance of a mutation in the OPN1SW gene and is associated with a deficiency or absence of blue-sensitive cone photoreceptor function.
is topic of
is annotatedSource of
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