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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:Neurofibrosarcoma
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Accession:HP:0100697 term browser browse the term
Definition:A form of malignant cancer of the connective tissue surrounding nerves. Given its origin and behavior, it is classified as a sarcoma.
Comment:About half the cases are diagnosed in people with neurofibromatosis.
Synonyms:exact_synonym: Malignant peripheral nerve sheath tumor;   Malignant peripheral nerve sheath tumour;   Malignant schwannoma;   Neurosarcoma
 xref: NCI:C3798;   SNOMEDCT_US:19897006;   SNOMEDCT_US:404037002;   SNOMEDCT_US:77418004;   UMLS:C0206729;   UMLS:C0751690


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Neurofibrosarcoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP HPO MIM:163950 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929 		JBrowse link
G MAP2K1 mitogen-activated protein kinase kinase 1 IAGP HPO MIM:163950 NCBI chr15:66,386,912...66,491,544
Ensembl chr15:66,386,837...66,491,656 		JBrowse link
G MXI1 MAX interactor 1, dimerization protein IAGP ClinVar Annotator: match by term: Neurofibrosarcoma ClinVar PMID:10470286 NCBI chr10:110,207,605...110,287,365
Ensembl chr10:110,207,605...110,287,365 		JBrowse link
G NF1 neurofibromin 1 IAGP HPO MIM:162200 ORPHA:363700 ORPHA:97685 NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 IAGP HPO MIM:163950 NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918 		JBrowse link
Term paths to the root
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Term Annotations click to browse term
  Human phenotype 95636
    Phenotypic abnormality 95258
      Neoplasm 16244
        Neoplasm by histology 2149
          Sarcoma 207
            Soft tissue sarcoma 133
              Neurofibrosarcoma 5
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