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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:An autosomal dominant disease 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: DOID:9004791;   OMIM:155755
 xref: GARD:8468;   ORDO:252206
For additional species annotation, visit the Alliance of Genome Resources.


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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

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Path 1
Term Annotations click to browse term
  disease 15602
    syndrome 5231
      melanoma and neural system tumor syndrome 1
Path 2
Term Annotations click to browse term
  disease 15602
    disease of cellular proliferation 5825
      Neoplasms by Site 5206
        Nervous System Neoplasms 1790
          Central Nervous System Neoplasms 1008
            Brain Neoplasms 966
              Supratentorial Neoplasms 852
                supratentorial cancer 852
                  cerebrum cancer 789
                    astrocytoma 785
                      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.