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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:Neurofibroma by anatomical location
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Accession:HP:0034761 term browser browse the term
Definition:Neurofibroma categorized according to the anatomical site of origin.



show annotations for term's descendants           Sort by:
Spinal neurofibroma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NF1 neurofibromin 1 IAGP ClinVar Annotator: match by term: Spinal neurofibromas ClinVar
HPO
MIM:162200 MIM:162210 ORPHA:363700 NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116
JBrowse link
Subcutaneous neurofibroma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NF1 neurofibromin 1 IAGP ClinVar Annotator: match by term: Subcutaneous neurofibroma ClinVar
HPO
PMID:8837715 PMID:9180088 PMID:10543400 PMID:10678181 PMID:10712197 More... ORPHA:363700 NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116
JBrowse link
Symmetric spinal nerve root neurofibromas term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NF1 neurofibromin 1 IAGP HPO MIM:162210 NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 87543
    Phenotypic abnormality 87122
      Abnormality of the integument 7387
        Abnormality of the skin 6698
          Neoplasm of the skin 2042
            Neurofibroma 20
              Neurofibroma by anatomical location 1
                Cardiac neurofibroma 0
                Gastric neurofibroma 0
                Palmar neurofibroma 0
                Paraspinal neurofibroma 0
                Renal neurofibroma 0
                Spinal neurofibroma + 1
                Subcutaneous neurofibroma 1
                Tongue neurofibroma 0
Path 2
Term Annotations click to browse term
  Human phenotype 87543
    Phenotypic abnormality 87122
      Neoplasm 16355
        Neoplasm by histology 2121
          Sarcoma 207
            Soft tissue sarcoma 133
              Fibroma 74
                Neurofibroma 20
                  Neurofibroma by anatomical location 1
                    Cardiac neurofibroma 0
                    Gastric neurofibroma 0
                    Palmar neurofibroma 0
                    Paraspinal neurofibroma 0
                    Renal neurofibroma 0
                    Spinal neurofibroma + 1
                    Subcutaneous neurofibroma 1
                    Tongue neurofibroma 0
paths to the root