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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:nevoid basal cell carcinoma syndrome 2
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Accession:DOID:0070366 term browser browse the term
Definition:A nevoid basal cell carcinoma syndrome that has_material_basis_in heterozygous mutation in the SUFU gene on chromosome 10q24. (DO)
Synonyms:exact_synonym: BCNS2;   NBCCS2;   basal cell nevus syndrome 2
 primary_id: MIM:620343
 alt_id: DOID:9006702

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nevoid basal cell carcinoma syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SUFU SUFU negative regulator of hedgehog signaling susceptibility ISO ClinVar Annotator: match by term: Basal cell nevus syndrome 2 | ClinVar Annotator: match by term: NEVOID BASAL CELL CARCINOMA SYNDROME 2 ClinVar
OMIM		 PMID:12068298 PMID:19533801 PMID:19833601 PMID:21188540 PMID:22508808 More... NCBI chr 9:95,532,228...95,660,594
Ensembl chr 9:95,532,242...95,657,290 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15388
    Developmental Disease 13448
      bone development disease 2314
        nevoid basal cell carcinoma syndrome 15
          nevoid basal cell carcinoma syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 15388
    disease of anatomical entity 15074
      nervous system disease 13213
        Neurologic Manifestations 9796
          sensory system disease 6897
            skin disease 4049
              Skin Neoplasms 495
                skin cancer 264
                  skin carcinoma 172
                    basal cell carcinoma 158
                      nevoid basal cell carcinoma syndrome 15
                        nevoid basal cell carcinoma syndrome 2 1
paths to the root