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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: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;   NCI:C176905;   ORDO:252206
For additional species annotation, visit the Alliance of Genome Resources.



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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    syndrome 9456
      melanoma and neural system tumor syndrome 1
Path 2
Term Annotations click to browse term
  disease 18032
    disease of cellular proliferation 7258
      Neoplasms by Site 6884
        Nervous System Neoplasms 1741
          Central Nervous System Neoplasms 1374
            Brain Neoplasms 1330
              Supratentorial Neoplasms 455
                supratentorial cancer 455
                  cerebrum cancer 403
                    malignant astrocytoma 399
                      melanoma and neural system tumor syndrome 1
paths to the root