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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 the CDKN2A gene on chromosome 9p21.3. (DO)
Synonyms:exact_synonym: cutaneous malignant melanoma and cerebral astrocytoma;   melanoma-astrocytoma syndrome
 xref: GARD:8468;   MESH:C536149;   MIM:155755;   MONDO:0007967;   NCI:C176905;   ORDO:252206


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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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Melanoma and neural system tumor syndrome 		OMIM
CTD
ClinVar		 PMID:203 PMID:865368 PMID:2677576 PMID:7566978 PMID:7640518 More... NCBI chr 5:109,100,763...109,114,448
Ensembl chr 5:109,100,772...109,119,248 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    syndrome 11431
      melanoma and neural system tumor syndrome 1
Path 2
Term Annotations click to browse term
  disease 19167
    disease of cellular proliferation 7905
      cancer 5732
        organ system cancer 5479
          nervous system cancer 926
            central nervous system cancer 734
              brain cancer 717
                supratentorial cancer 511
                  cerebrum cancer 458
                    malignant astrocytoma 454
                      melanoma and neural system tumor syndrome 1
paths to the root