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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: EFO:0009254;   GARD:4107;   NCI:C4537
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
optic nerve glioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alx4 aristaless-like homeobox 4 ISO ClinVar Annotator: match by term: Optic nerve glioma ClinVar PMID:25741868 NCBI chr 2:93,472,779...93,511,686
Ensembl chr 2:93,472,729...93,511,684 		JBrowse link
G Cx3cr1 C-X3-C motif chemokine receptor 1 onset IMP associated with Neurofibromatosis 1 RGD PMID:23424002 RGD:9491391 NCBI chr 9:119,877,749...119,897,362
Ensembl chr 9:119,877,749...119,898,945 		JBrowse link
G Nf1 neurofibromin 1 susceptibility ISO associated with Neurofibromatosis 1; DNA:mutations:5'end:
ClinVar Annotator: match by term: Optic nerve glioma		 ClinVar
RGD		 PMID:10712197 PMID:16199547 PMID:23913538 PMID:25741868 PMID:28492532 More... RGD:12789442 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
    sensory system disease 6828
      eye disease 3477
        optic nerve disease 389
          optic nerve neoplasm 3
            optic nerve glioma 3
              childhood optic nerve glioma 0
              optic nerve astrocytoma + 0
Path 2
Term Annotations click to browse term
  disease 16121
    disease of anatomical entity 15680
      Skin and Connective Tissue Diseases 7033
        connective tissue disease 5423
          Connective Tissue Neoplasms 1788
            connective tissue cancer 815
              bone cancer 762
                high grade glioma 708
                  brain glioma 30
                    optic nerve glioma 3
                      childhood optic nerve glioma 0
                      optic nerve astrocytoma + 0
paths to the root