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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:spinal neurofibromatosis
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Accession:DOID:0070482 term browser browse the term
Definition:A neurofibromatosis 1 characterized by bilateral neurofibromas of all spinal roots. (DO)
Synonyms:exact_synonym: FNSF;   FSNF;   SNF;   SPINAL NEUROFIBROMAS;   familial spinal neurofibromatosis
 primary_id: MESH:C563523
 alt_id: DOID:9005235;   OMIM:162210


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spinal neurofibromatosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nf1 neurofibromin 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neurofibromatosis, familial spinal		 OMIM
CTD
ClinVar		 PMID:190611 PMID:1511985 PMID:1568246 PMID:1568247 PMID:1745350 More... NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10886
      RASopathy 257
        neurofibromatosis 55
          neurofibromatosis 1 30
            spinal neurofibromatosis 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of cellular proliferation 7691
      cancer 5509
        organ system cancer 5263
          nervous system cancer 993
            peripheral nervous system neoplasm 185
              Nerve Sheath Neoplasms 98
                peripheral nerve sheath neoplasm 66
                  neurofibroma 62
                    neurofibromatosis 55
                      neurofibromatosis 1 30
                        spinal neurofibromatosis 1
paths to the root