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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:plexiform neurofibroma
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Accession:DOID:5151 term browser browse the term
Definition:A type of neurofibroma manifesting as a diffuse overgrowth of subcutaneous tissue, usually involving the face, scalp, neck, and chest but occasionally occurring in the abdomen or pelvis. The tumors tend to progress, and may extend along nerve roots to eventually involve the spinal roots and spinal cord. This process is almost always a manifestation of NEUROFIBROMATOSIS 1. (From Adams et al., Principles of Neurology, 6th ed, p1016; J Pediatr 1997 Nov;131(5):678-82)
Synonyms:exact_synonym: Elephantiasis Neuromatoses;   Elephantiasis Neuromatosis;   Pachydermatocele;   Pachydermatoceles;   Plexiform Neurofibromas;   Plexiform Neuroma;   Plexiform Neuromas;   Tumor Royale
 primary_id: MESH:D018318;   RDO:0007179
 xref: EFO:0000658;   ICDO:9550/0;   NCI:C3797
For additional species annotation, visit the Alliance of Genome Resources.


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plexiform neurofibroma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Axl AXL receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25551830 NCBI chr 7:25,455,925...25,488,502
Ensembl chr 7:25,456,698...25,488,130 		JBrowse link
G Nf1 neurofibromin 1 ISO associated with severe combined immunodeficiency, human cells in mouse model RGD PMID:17335073 RGD:126925763 NCBI chr11:79,223,541...79,472,435
Ensembl chr11:79,230,519...79,472,438 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16121
    disease of cellular proliferation 7571
      Neoplasms by Histologic Type 5320
        Nerve Tissue Neoplasms 527
          Nerve Sheath Neoplasms 85
            neurofibroma 62
              plexiform neurofibroma 2
Path 2
Term Annotations click to browse term
  disease 16121
    disease of cellular proliferation 7571
      cancer 5523
        organ system cancer 5290
          nervous system cancer 965
            peripheral nervous system neoplasm 172
              Nerve Sheath Neoplasms 85
                peripheral nerve sheath neoplasm 63
                  neurofibroma 62
                    plexiform neurofibroma 2
paths to the root