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ONTOLOGY REPORT - ANNOTATIONS


Term:melanoma and neural system tumor syndrome
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Accession:DOID:0111511 term browser browse the term
Definition:A syndrome characterized by predisposition to cutaneous melanoma and neural tumor (typically astrocytomas) development that has_material_basis_in heterozygous mutation in CDKN2A on chromosome 9p21.3. (DO)
Synonyms:exact_synonym: cutaneous malignant melanoma and cerebral astrocytoma;   melanoma astrocytoma syndrome
 primary_id: MESH:C536149
 alt_id: OMIM:155755
 xref: GARD:8468;   ORDO:252206
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melanoma and neural system tumor syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdkn2a cyclin-dependent kinase inhibitor 2A JBrowse link 5 107,823,323 107,832,405 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15469
    syndrome 5318
      melanoma and neural system tumor syndrome 1
Path 2
Term Annotations click to browse term
  disease 15469
    disease of cellular proliferation 5799
      Neoplasms by Site 5181
        Nervous System Neoplasms 1783
          Central Nervous System Neoplasms 1325
            Brain Neoplasms 1290
              Supratentorial Neoplasms 1020
                supratentorial cancer 1020
                  cerebrum cancer 968
                    astrocytoma 966
                      melanoma and neural system tumor syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.