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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:optic nerve glioma
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Accession:DOID:4992 term browser browse the term
Definition:Glial cell derived tumors arising from the optic nerve, usually presenting in childhood.
Synonyms:exact_synonym: Optic Glioma;   glioma of the optic nerve;   optic gliomas;   optic nerve gliomas
 primary_id: MESH:D020339
 xref: GARD:4107;   NCI:C4537
For additional species annotation, visit the Alliance of Genome Resources.


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optic nerve glioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CX3CR1 C-X3-C motif chemokine receptor 1 onset ISO associated with Neurofibromatosis 1 RGD PMID:23424002 RGD:9491391 NCBI chr13:23,944,386...23,957,567
Ensembl chr13:23,944,369...23,957,486
JBrowse link
G NF1 neurofibromin 1 susceptibility ISO associated with Neurofibromatosis 1; DNA:mutations:5'end:
ClinVar Annotator: match by term: Optic nerve glioma
RGD
ClinVar
PMID:21278392, PMID:25741868, PMID:28492532, PMID:29483232 RGD:12789442 NCBI chr12:43,487,098...43,754,205
Ensembl chr12:43,489,171...43,754,176
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12618
    sensory system disease 4777
      eye disease 2498
        optic nerve disease 229
          optic nerve neoplasm 2
            optic nerve glioma 2
              childhood optic nerve glioma 0
              optic nerve astrocytoma + 0
Path 2
Term Annotations click to browse term
  disease 12618
    disease of anatomical entity 12151
      Skin and Connective Tissue Diseases 4780
        connective tissue disease 3582
          Connective Tissue Neoplasms 1361
            connective tissue cancer 1235
              bone cancer 1216
                malignant glioma 1179
                  brain glioma 17
                    optic nerve glioma 2
                      childhood optic nerve glioma 0
                      optic nerve astrocytoma + 0
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.