Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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:Chorioretinal coloboma
go back to main search page
Accession:HP:0000567 term browser browse the term
Definition:Absence of a region of the retina, retinal pigment epithelium, and choroid.
Synonyms:exact_synonym: Birth defect that causes a hole in the innermost layer at the back of the eye;   Choroidoretinal coloboma
 related_synonym: Choroid coloboma;   Choroidal coloboma;   Coloboma of choroid
 alt_id: HP:0000611;   HP:0007718;   HP:0007784;   HP:0007956
 xref: SNOMEDCT_US:39302008;   UMLS:C0240896



show annotations for term's descendants           Sort by:

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
            Chorioretinal coloboma 0
              Inferior chorioretinal 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
                Abnormal chorioretinal morphology 0
                  Chorioretinal coloboma 0
                    Inferior chorioretinal coloboma 0
paths to the root