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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:Retinal dystrophy
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Accession:HP:0000556 term browser browse the term
Definition:Retinal dystrophy is an abnormality of the retina associated with a hereditary process. Retinal dystrophies are defined by their predominantly monogenic inheritance and they are frequently associated with loss or dysfunction of photoreceptor cells as a primary or secondary event.
Synonyms:exact_synonym: Breakdown of light-sensitive cells in back of eye
 alt_id: HP:0007736;   HP:0007910;   HP:0007974;   HP:0007982
 xref: MESH:D058499;   SNOMEDCT_US:314407005;   UMLS:C0854723


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  Human phenotype 0
    Phenotypic abnormality 0
      Abnormality of the eye 0
        Abnormal eye morphology 0
          Abnormal posterior eye segment morphology 0
            Abnormal fundus morphology 0
              Abnormal retinal morphology 0
                Retinal dystrophy 0
                  Chorioretinal dystrophy 0
                  Cone/cone-rod dystrophy + 0
                  Congenital stationary night blindness + 0
                  Macular dystrophy + 0
                  Pattern dystrophy of the retina + 0
                  Retinal dystrophy with early macular involvement 0
                  Rod-cone dystrophy + 0
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