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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:ocular melanoma
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Accession:DOID:1752 term browser browse the term
Definition:An ocular cancer that has_material_basis_in melanocytes and is located_in the eye. (DO)
Synonyms:exact_synonym: eye melanoma;   intraocular melanoma;   melanoma of eye
 narrow_synonym: Ocular Melanoma with Extraocular Extension
 xref: EFO:1000403;   EFO:1000404;   GARD:7236;   GARD:8621;   NCI:C8562
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
ocular melanoma 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: Intraocular melanoma ClinVar PMID:25741868 NCBI chr14:30,973,358...30,981,887
Ensembl chr14:30,973,407...30,981,901 		JBrowse link
G Tmem127 transmembrane protein 127 ISO ClinVar Annotator: match by term: Intraocular melanoma ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:127,089,868...127,103,028
Ensembl chr 2:127,089,828...127,103,027 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16121
    sensory system disease 6828
      sensory system cancer 116
        ocular cancer 116
          ocular melanoma 2
            choroid epithelioid cell melanoma 0
            choroid necrotic melanoma 0
            choroid spindle cell melanoma 0
            ciliary body epithelioid cell melanoma 0
            ciliary body mixed cell melanoma 0
            intraocular mixed cell type melanoma + 0
            spindle cell intraocular melanoma + 0
Path 2
Term Annotations click to browse term
  disease 16121
    Pathological Conditions, Signs and Symptoms 12404
      Signs and Symptoms 10193
        Neurologic Manifestations 9852
          sensory system disease 6828
            eye disease 3477
              Eye Neoplasms 123
                ocular cancer 116
                  ocular melanoma 2
                    choroid epithelioid cell melanoma 0
                    choroid necrotic melanoma 0
                    choroid spindle cell melanoma 0
                    ciliary body epithelioid cell melanoma 0
                    ciliary body mixed cell melanoma 0
                    intraocular mixed cell type melanoma + 0
                    spindle cell intraocular melanoma + 0
paths to the root