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DO Term : blue cone monochromacy [DOID:0050679] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • GARD:917,
  • 303700,
  • OMIM:303700
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Disease

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Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents