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RGD uses the Human Disease Ontology (DO, 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;   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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdkn2a cyclin-dependent kinase inhibitor 2A ISO ClinVar Annotator: match by term: Melanoma astrocytoma syndrome
ClinVar Annotator: match by term: Melanoma and neural system tumor syndrome
PMID:7566978 PMID:7647780 PMID:7718873 PMID:7987387 PMID:8570179 PMID:8573142 PMID:9166859 PMID:9389568 PMID:9425228 PMID:9516223 PMID:9699728 PMID:9916806 PMID:10389768 PMID:10390011 PMID:10398427 PMID:10667595 PMID:10719365 PMID:10738302 PMID:10951521 PMID:11136714 PMID:11556834 PMID:11595726 PMID:11687599 PMID:11815963 PMID:15075790 PMID:15146471 PMID:15945100 PMID:16234564 PMID:16397522 PMID:16818274 PMID:16896043 PMID:16905682 PMID:17047042 PMID:17218939 PMID:17713569 PMID:18025365 PMID:18335566 PMID:18337833 PMID:18363633 PMID:18519632 PMID:18843795 PMID:19523171 PMID:20093296 PMID:20340136 PMID:21085193 PMID:21150883 PMID:21462282 PMID:21801156 PMID:22440936 PMID:23190892 PMID:24185512 PMID:24733792 PMID:25078331 PMID:25186627 PMID:25356972 PMID:25741868 PMID:25780468 PMID:25980754 PMID:26104880 PMID:26206375 PMID:26225579 PMID:26467025 PMID:26581427 PMID:26670561 PMID:26681309 PMID:26775776 PMID:26845104 PMID:27756164 PMID:27960642 PMID:28166811 PMID:28454591 PMID:28492532 PMID:28640387 PMID:28765326 PMID:28830827 PMID:29263814 PMID:30038052 PMID:30207590 PMID:30339520 PMID:31921681 NCBI chr 5:107,823,323...107,832,405
Ensembl chr 5:107,823,330...107,841,175
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    syndrome 7568
      melanoma and neural system tumor syndrome 1
Path 2
Term Annotations click to browse term
  disease 16909
    disease of cellular proliferation 6551
      Neoplasms by Site 5938
        Nervous System Neoplasms 1662
          Central Nervous System Neoplasms 1339
            Brain Neoplasms 1299
              Supratentorial Neoplasms 431
                supratentorial cancer 431
                  cerebrum cancer 379
                    malignant astrocytoma 376
                      melanoma and neural system tumor syndrome 1
paths to the root