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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:Spinal cord tumor
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Accession:HP:0010302 term browser browse the term
Definition:A neoplasm affecting the spinal cord.
Synonyms:exact_synonym: Spinal cord tumour;   Tumor of the spinal cord;   Tumour of the spinal cord
 related_synonym: SPINAL TUMORS;   Spinal tumor;   Spinal tumour;   Spinal tumours
 alt_id: HP:0009712
 xref: MESH:D013120;   NCI:C3262;   SNOMEDCT_US:126962006;   UMLS:C0037930


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Spinal cord tumor term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COQ6 coenzyme Q6, monooxygenase IAGP HPO ORPHA:93921 NCBI chr14:73,949,926...73,963,670
Ensembl chr14:73,949,926...73,963,670 		JBrowse link
G CREBBP CREB binding protein IAGP HPO ORPHA:353281 NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713 		JBrowse link
G FLI1 Fli-1 proto-oncogene, ETS transcription factor IAGP HPO ORPHA:370348 NCBI chr11:128,685,351...128,813,267
Ensembl chr11:128,686,535...128,813,267 		JBrowse link
G LZTR1 leucine zipper like post translational regulator 1 IAGP HPO OMIM:615670 ORPHA:93921 NCBI chr22:20,982,297...20,999,032
Ensembl chr22:20,982,269...20,999,032 		JBrowse link
G NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor IAGP HPO ORPHA:637 ORPHA:93921 NCBI chr22:29,603,556...29,698,600
Ensembl chr22:29,603,556...29,698,598 		JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit IAGP HPO ORPHA:251636 NCBI chr11:65,653,601...65,663,857
Ensembl chr11:65,653,599...65,663,090 		JBrowse link
G SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 IAGP HPO OMIM:162091 ORPHA:93921 NCBI chr22:23,786,966...23,838,009
Ensembl chr22:23,786,931...23,838,009 		JBrowse link
G ZFTA zinc finger translocation associated IAGP HPO ORPHA:251636 NCBI chr11:63,759,892...63,768,775
Ensembl chr11:63,759,892...63,768,775 		JBrowse link
Filum terminale lipoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRAPPC14 trafficking protein particle complex subunit 14 IAGP HPO OMIM:618351 NCBI chr 7:100,154,423...100,158,723
Ensembl chr 7:100,154,420...100,158,723 		JBrowse link
Spinal hemangioblastoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCND1 cyclin D1 IAGP HPO OMIM:193300 NCBI chr11:69,641,156...69,654,474
Ensembl chr11:69,641,156...69,654,474 		JBrowse link
G VHL von Hippel-Lindau tumor suppressor IAGP ClinVar Annotator: match by term: Spinal hemangioblastoma ClinVar
HPO		 PMID:7728151 PMID:7987306 PMID:10567493 PMID:12114495 PMID:15611064 More... OMIM:193300 NCBI chr 3:10,141,778...10,153,667
Ensembl chr 3:10,141,778...10,153,667 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 21554
    Phenotypic abnormality 21544
      Abnormality of the nervous system 15589
        Abnormal nervous system morphology 4218
          Morphological central nervous system abnormality 4108
            Abnormal spinal cord morphology 317
              Spinal cord tumor 11
                Filum terminale lipoma 1
                Intradural spinal lipoma 0
                Spinal hemangioblastoma 2
paths to the root