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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 cone monochromacy
comment
  • OMIM mapping confirmed by DO. [SN].
described by
id
  • DOID:0050679
database_cross_reference
  • GARD:917
  • OMIM:303700
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • An achromatopsia that is characterized by severely impaired color discrimination, low visual acuity, nystagmus, photophobia due to the absence of functional long wavelength-sensitive and medium wavelength-sensitive cones in the retina and has_material_basis_in recessive X-linked inheritance.
is topic of
is annotatedSource of
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