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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:Chondrosarcoma
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Accession:HP:0006765 term browser browse the term
Definition:A slowly growing malignant neoplasm derived from cartilage cells.
Synonyms:xref: EFO:0000333;   NCI:C2946;   SNOMEDCT_US:14990007;   SNOMEDCT_US:443520009;   UMLS:C0008479



show annotations for term's descendants           Sort by:
Chondrosarcoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EXT1 exostosin glycosyltransferase 1 IAGP ClinVar Annotator: match by term: Chondrosarcoma ClinVar
HPO
PMID:7550340 PMID:8981950 PMID:9521425 PMID:10679937 PMID:10713884 More... MIM:133700 MIM:215300 ORPHA:321 NCBI chr 8:117,794,490...118,111,826
Ensembl chr 8:117,794,490...118,111,826
JBrowse link
G EXT2 exostosin glycosyltransferase 2 IAGP HPO MIM:133701 ORPHA:321 NCBI chr11:44,095,678...44,251,962
Ensembl chr11:44,095,648...44,251,962
JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 IAGP HPO ORPHA:163634 ORPHA:296 NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074
JBrowse link
G IDH2 isocitrate dehydrogenase (NADP(+)) 2 IAGP HPO ORPHA:163634 ORPHA:296 NCBI chr15:90,083,045...90,102,468
Ensembl chr15:90,083,045...90,102,477
JBrowse link
G NR4A3 nuclear receptor subfamily 4 group A member 3 IAGP HPO MIM:612237 NCBI chr 9:99,821,885...99,866,891
Ensembl chr 9:99,821,855...99,866,891
JBrowse link
G PTH1R parathyroid hormone 1 receptor IAGP HPO ORPHA:296 NCBI chr 3:46,877,721...46,903,799
Ensembl chr 3:46,877,721...46,903,799
JBrowse link
G TAF15 TATA-box binding protein associated factor 15 IAGP HPO MIM:612237 NCBI chr17:35,809,484...35,847,242
Ensembl chr17:35,809,482...35,864,615
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 34423
    Phenotypic abnormality 34374
      Neoplasm 6202
        Neoplasm by anatomical site 6146
          Neoplasm of the skeletal system 139
            Chondrosarcoma 7
Path 2
Term Annotations click to browse term
  Human phenotype 34423
    Phenotypic abnormality 34374
      Abnormality of the musculoskeletal system 5574
        Abnormality of the skeletal system 4650
          Abnormal skeletal morphology 4495
            Neoplasm of the skeletal system 139
              Chondrosarcoma 7
paths to the root