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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 LOC130004614 ATAC-STARR-seq lymphoblastoid silent region 2764 IAGP ClinVar Annotator: match by term: Basal cell nevus syndrome 2 ClinVar PMID:19833601 PMID:22508808 PMID:25403219 PMID:28492532 PMID:29186568 More... NCBI chr10:102,503,788...102,504,257 JBrowse link
G SUFU SUFU negative regulator of hedgehog signaling susceptibility IAGP ClinVar Annotator: match by term: NEVOID BASAL CELL CARCINOMA SYNDROME 2
ClinVar Annotator: match by term: Basal cell nevus syndrome 2		 ClinVar
OMIM		 PMID:12068298 PMID:19533801 PMID:19833601 PMID:21188540 PMID:22508808 More... NCBI chr10:102,502,819...102,633,535
Ensembl chr10:102,503,972...102,633,535 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 97387
    Developmental Disease 35248
      bone development disease 3409
        nevoid basal cell carcinoma syndrome 39
          nevoid basal cell carcinoma syndrome 2 2
Path 2
Term Annotations click to browse term
  disease 97387
    disease of anatomical entity 91016
      nervous system disease 53022
        Neurologic Manifestations 31894
          sensory system disease 20956
            skin disease 10978
              Skin Neoplasms 1894
                skin cancer 1581
                  skin carcinoma 1173
                    basal cell carcinoma 770
                      nevoid basal cell carcinoma syndrome 39
                        nevoid basal cell carcinoma syndrome 2 2
paths to the root