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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 Cord Neoplasms
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Accession:DOID:9006391 term browser browse the term
Definition:Benign and malignant neoplasms which occur within the substance of the spinal cord (intramedullary neoplasms) or in the space between the dura and spinal cord (intradural extramedullary neoplasms). The majority of intramedullary spinal tumors are primary CNS neoplasms including ASTROCYTOMA; EPENDYMOMA; and LIPOMA. Intramedullary neoplasms are often associated with SYRINGOMYELIA. The most frequent histologic types of intradural-extramedullary tumors are MENINGIOMA and NEUROFIBROMA.
Synonyms:exact_synonym: Intradural Extramedullary Spinal Cord Neoplasms;   Intramedullary Spinal Cord Neoplasms;   Primary Intramedullary Spinal Cord Neoplasms;   Spinal Cord Neoplasm;   Spinal Cord Neoplasms, Benign;   Spinal Cord Neoplasms, Malignant;   Spinal Cord Tumor;   Spinal Cord Tumors
 primary_id: MESH:D013120
 alt_id: RDO:0006598
For additional species annotation, visit the Alliance of Genome Resources.


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adult spinal cord ependymoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chd6 chromodomain helicase DNA binding protein 6 ISO ClinVar Annotator: match by term: Adult Spinal Cord Ependymoma ClinVar NCBI chr 3:156,937,746...157,099,328
Ensembl chr 3:156,937,733...157,099,306
JBrowse link
ganglioglioma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bap1 Brca1 associated protein 1 ISO ClinVar Annotator: match by term: Ganglioglioma ClinVar PMID:25741868, PMID:28492532 NCBI chr16:7,336,685...7,345,511
Ensembl chr16:7,336,685...7,345,511
JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Childhood ganglioglioma ClinVar PMID:19363522, PMID:19794125, PMID:21190184, PMID:21343559, PMID:21716161, PMID:22535154, PMID:24033266 NCBI chr 4:67,389,331...67,520,549
Ensembl chr 4:67,396,192...67,520,356
JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Ganglioglioma ClinVar PMID:7607663, PMID:16835897, PMID:16944272, PMID:19738042, PMID:24357598, PMID:25325900, PMID:25741868, PMID:26467025, PMID:27980226, PMID:28492532 NCBI chr10:66,732,460...66,928,706
Ensembl chr10:66,690,133...66,928,903
JBrowse link
subependymal giant cell astrocytoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Subependymal giant-cell astrocytoma ClinVar PMID:28492532 NCBI chr19:25,453,236...25,749,550
Ensembl chr19:25,526,751...25,749,550
JBrowse link
G Tsc1 TSC complex subunit 1 ISO ClinVar Annotator: match by term: Subependymal giant-cell astrocytoma ClinVar PMID:10227394, PMID:10363127, PMID:10533067, PMID:15798777, PMID:17304050, PMID:18032745, PMID:26540169, PMID:28492532, PMID:30311386 NCBI chr 3:7,219,955...7,269,063
Ensembl chr 3:7,237,192...7,265,145
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        central nervous system disease 9045
          spinal cord disease 903
            Spinal Cord Neoplasms 6
              benign glioma + 5
              epidural spinal canal neoplasm 0
              spinal cancer + 1
              spinal cord lipoma + 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.