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ONTOLOGY REPORT - ANNOTATIONS


Term:nevoid basal cell carcinoma syndrome
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Accession:DOID:2512 term browser browse the term
Definition:Hereditary disorder consisting of multiple basal cell carcinomas, odontogenic keratocysts, and multiple skeletal defects, e.g., frontal and temporoparietal bossing, bifurcated and splayed ribs, kyphoscoliosis, fusion of vertebrae, and cervicothoracic spina bifida. Genetic transmission is autosomal dominant.
Synonyms:exact_synonym: BCNS;   Basal Cell Nevus Syndrome;   Fifth Phacomatosis;   Gorlin Syndrome;   Gorlin-Goltz Syndrome;   NBCCS;   fifth phacomatoses;   multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies
 primary_id: MESH:D001478
 alt_id: OMIM:109400;   RDO:0002809
 xref: GARD:7166;   NCI:C2892
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nevoid basal cell carcinoma syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fancc FA complementation group C JBrowse link 17 826,512 955,703 RGD:8554872
G Gli1 GLI family zinc finger 1 JBrowse link 7 70,620,794 70,633,171 RGD:12801443
G Gli2 GLI family zinc finger 2 JBrowse link 13 34,829,021 35,049,172 RGD:11554173
G Npepo aminopeptidase O JBrowse link 17 507,389 825,062 RGD:8554872
G Ptch1 patched 1 JBrowse link 17 1,032,242 1,085,885 RGD:7240710
RGD:8554872
RGD:13207424
RGD:13207421
RGD:12801443
RGD:12801422
RGD:12798568
RGD:11554173
G Ptch2 patched 2 JBrowse link 5 135,962,252 135,983,816 RGD:8554872
RGD:7240710
G Pth parathyroid hormone JBrowse link 1 178,215,829 178,218,761 RGD:11554173
G Shh sonic hedgehog signaling molecule JBrowse link 4 718,538 727,691 RGD:12802345
G Smo smoothened, frizzled class receptor JBrowse link 4 57,019,941 57,041,779 RGD:12801443
G Sufu SUFU negative regulator of hedgehog signaling JBrowse link 1 266,143,766 266,241,742 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15620
    syndrome 5159
      nevoid basal cell carcinoma syndrome 10
        Aloi Tomasini Isaia Syndrome 0
Path 2
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      nervous system disease 10219
        sensory system disease 4681
          skin disease 2461
            Skin Neoplasms 210
              skin cancer 99
                skin carcinoma 50
                  basal cell carcinoma 44
                    nevoid basal cell carcinoma syndrome 10
                      Aloi Tomasini Isaia Syndrome 0
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.