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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.
Term:Achromatopsia
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Accession:HP:0011516 term browser browse the term
Definition:A condition where the retina contains no functional cone cells, so that in addition to the absence of color discrimination, vision in lights of normal intensity is difficult.
Comment:The end stage of cone degeneration is rod monochromacy, also called achromatopsia, in which vision is mediated exclusively by rod photoreceptors. Rod monochromacy can also be manifest from birth and can be due to congenitally absent or dysfunctional cone photoreceptors. There is no rod counterpart to cone degeneration; all rod photoreceptor degenerations have a secondary loss of cones and are categorized as retinitis pigmentosa.
Synonyms:exact_synonym: Rod monochromacy;   Rod monochromatism
 xref: MESH:C536021;   SNOMEDCT_US:102450007;   UMLS:C0302129


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  Human phenotype 0
    Phenotypic abnormality 0
      Abnormality of the eye 0
        Abnormal eye physiology 0
          Abnormality of vision 0
            Color vision defect 0
              Monochromacy 0
                Achromatopsia 0
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