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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 neoplasm
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Accession:DOID:3419 term browser browse the term
Definition:Benign and malignant neoplasms that arise from the optic nerve or its sheath. OPTIC NERVE GLIOMA is the most common histologic type. Optic nerve neoplasms tend to cause unilateral visual loss and an afferent pupillary defect and may spread via neural pathways to the brain.
Synonyms:exact_synonym: Benign Optic Nerve Neoplasm;   Benign Optic Nerve Tumor;   Malignant Optic Nerve Neoplasm;   Malignant Optic Nerve Sheath Tumors;   Malignant Optic Nerve Tumor;   benign optic nerve sheath neoplasms;   benign optic nerve sheath tumors;   malignant optic nerve sheath neoplasms;   neoplasm of optic nerve;   optic nerve neoplasms;   optic nerve sheath neoplasm;   optic nerve sheath tumors;   tumor of second cranial nerve;   tumour of optic nerve
 primary_id: MESH:D019574
 xref: NCI:C4801
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 Alx4 ALX homeobox 4 ISO ClinVar Annotator: match by term: Optic nerve glioma ClinVar PMID:25741868 NCBI chr 3:79,611,682...79,648,260
Ensembl chr 3:79,611,719...79,648,260
JBrowse link
G Cx3cr1 C-X3-C motif chemokine receptor 1 onset ISO associated with Neurofibromatosis 1 RGD PMID:23424002 RGD:9491391 NCBI chr 8:119,785,726...119,799,431
Ensembl chr 8:119,782,595...119,800,014
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:25741868 PMID:28492532 PMID:29483232 PMID:21278392 RGD:12789442 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 18156
    sensory system disease 6410
      eye disease 2936
        optic nerve disease 284
          optic nerve neoplasm 3
            anterior optic tract meningioma 0
            bilateral meningioma of optic nerve 0
            optic nerve glioma + 3
            optic nerve sheath meningioma 0
Path 2
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      nervous system disease 13193
        peripheral nervous system disease 3018
          neuropathy 2804
            cranial nerve disease 528
              Cranial Nerve Neoplasms 4
                cranial nerve malignant neoplasm 4
                  optic nerve neoplasm 3
                    anterior optic tract meningioma 0
                    bilateral meningioma of optic nerve 0
                    optic nerve glioma + 3
                    optic nerve sheath meningioma 0
paths to the root