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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:Macular coloboma
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Accession:HP:0001116 term browser browse the term
Definition:A congenital defect of the macula distinct from coloboma associated with optic fissure closure defects. Macular coloboma is characterized by a sharply defined, rather large defect in the central area of the fundus that is oval or round, and coarsely pigmented.
Synonyms:exact_synonym: Coloboma of the macula
 xref: UMLS:C1852767



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Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 0
    Phenotypic abnormality 0
      Abnormality of the eye 0
        Abnormal eye morphology 0
          Coloboma 0
            Retinal coloboma 0
              Macular coloboma 0
Path 2
Term Annotations click to browse term
  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 coloboma 0
                  Macular coloboma 0
paths to the root