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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:Cerebellar hemangioblastoma
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Accession:HP:0006880 term browser browse the term
Definition:A hemangioblastoma of the cerebellum.
Synonyms:exact_synonym: Hemangioblastoma, sporadic cerebellar
 alt_id: HP:0006761
 xref: NCI:C3801;   UMLS:C1332900


show annotations for term's descendants           Sort by:
Cerebellar hemangioblastoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCND1 cyclin D1 IAGP HPO MIM:193300 ORPHA:892 NCBI chr11:69,641,156...69,654,474
Ensembl chr11:69,641,156...69,654,474 		JBrowse link
G LOC107303340 3p25 von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase Alu-mediated recombination region IAGP ClinVar Annotator: match by term: Hemangioblastoma, sporadic cerebellar ClinVar NCBI chr 3:10,142,339...10,160,352 JBrowse link
G VHL von Hippel-Lindau tumor suppressor IAGP ClinVar Annotator: match by term: Hemangioblastoma, sporadic cerebellar ClinVar
HPO		 PMID:7728151 PMID:7987306 PMID:10567493 PMID:12114495 PMID:15611064 More... MIM:193300 ORPHA:892 NCBI chr 3:10,141,778...10,153,667
Ensembl chr 3:10,141,778...10,153,676 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 34423
    Phenotypic abnormality 34374
      Abnormality of the nervous system 19758
        Abnormal nervous system morphology 4600
          Morphological central nervous system abnormality 4484
            Neoplasm of the central nervous system 1071
              Benign neoplasm of the central nervous system 111
                Hemangioblastoma 19
                  Cerebellar hemangioblastoma 3
Path 2
Term Annotations click to browse term
  Human phenotype 34423
    Phenotypic abnormality 34374
      Abnormality of the nervous system 19758
        Abnormal nervous system morphology 4600
          Morphological central nervous system abnormality 4484
            Abnormal brain morphology 3331
              Abnormal hindbrain morphology 1115
                Abnormal metencephalon morphology 1115
                  Abnormal cerebellum morphology 1107
                    Cerebellar hemangioblastoma 3
paths to the root