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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 ClinVar Annotator: match by term: Neurofibromatosis, familial spinal OMIM
ClinVar		 PMID:190611 PMID:1511985 PMID:1568246 PMID:1568247 PMID:1745350 More... NCBI chrNW_004955481:6,145,855...6,404,179
Ensembl chrNW_004955481:6,145,855...6,404,179 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    syndrome 9334
      RASopathy 250
        neurofibromatosis 53
          neurofibromatosis 1 29
            spinal neurofibromatosis 1
Path 2
Term Annotations click to browse term
  disease 16063
    disease of cellular proliferation 6683
      cancer 4846
        organ system cancer 4629
          nervous system cancer 850
            peripheral nervous system neoplasm 164
              Nerve Sheath Neoplasms 81
                peripheral nerve sheath neoplasm 61
                  neurofibroma 60
                    neurofibromatosis 53
                      neurofibromatosis 1 29
                        spinal neurofibromatosis 1
paths to the root