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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
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Accession:DOID:2512 term browser browse the term
Definition:A syndrome characterized by multiple early-onset basal cell carcinoma, multiple jaw keratocysts and skeletal abnormalities. (DO)
Synonyms:exact_synonym: BCNS;   Gorlin syndrome;   Gorlin-Goltz Syndrome;   NBCCS;   basal cell nevus syndrome;   fifth phacomatoses;   fifth phacomatosis;   multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies
 primary_id: MESH:D001478
 xref: EFO:0004136;   GARD:7166;   MIM:PS109400;   MONDO:0007187;   NCI:C2892;   ORDO:377
For additional species annotation, visit the Alliance of Genome Resources.

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show annotations for term's descendants           Sort by:
nevoid basal cell carcinoma syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aopep aminopeptidase O (putative) ISO ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:17703323 PMID:17924555 PMID:22382802 PMID:28492532 NCBI chrNW_004955422:21,680,488...22,020,935 JBrowse link
G Arl3 ADP ribosylation factor like GTPase 3 ISO ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:12068298 PMID:22508808 PMID:25403219 PMID:28492532 PMID:31639285 NCBI chrNW_004955485:7,739,556...7,772,582
Ensembl chrNW_004955485:7,733,211...7,775,687 		JBrowse link
G Fancc FA complementation group C ISO ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:17703323 PMID:17924555 PMID:22382802 PMID:28492532 NCBI chrNW_004955422:22,031,825...22,246,478
Ensembl chrNW_004955422:22,032,258...22,247,044 		JBrowse link
G Gli1 GLI family zinc finger 1 ISO RGD PMID:15308259 RGD:12801443 NCBI chrNW_004955458:5,181,761...5,193,500
Ensembl chrNW_004955458:5,185,225...5,193,196 		JBrowse link
G Gli2 GLI family zinc finger 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16936257 NCBI chrNW_004955459:8,892,917...9,124,672
Ensembl chrNW_004955459:8,892,869...9,118,499 		JBrowse link
G LOC102011010 steroid 17-alpha-hydroxylase/17,20 lyase ISO ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:12068298 PMID:22508808 PMID:25403219 PMID:28492532 PMID:31639285 NCBI chrNW_004955485:7,615,132...7,652,899
Ensembl chrNW_004955485:7,645,363...7,650,658 		JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Basal cell nevus syndrome | ClinVar Annotator: match by term: Fifth Phacomatosis | ClinVar Annotator: match by term: Gorlin syndrome | ClinVar Annotator: match by term: Gorlin-Goltz Syndrome ClinVar PMID:1347096 PMID:1850296 PMID:8302318 PMID:8658145 PMID:8681379 More... NCBI chrNW_004955422:22,362,330...22,418,062
Ensembl chrNW_004955422:22,362,221...22,427,622 		JBrowse link
G Ptch2 patched 2 ISO ClinVar Annotator: match by term: Basal cell nevus syndrome | ClinVar Annotator: match by term: Fifth Phacomatosis | ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:18285427 PMID:23951062 More... NCBI chrNW_004955464:13,387,844...13,403,991
Ensembl chrNW_004955464:13,387,844...13,403,991 		JBrowse link
G Pth parathyroid hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:24803734 NCBI chrNW_004955414:28,828,389...28,831,417
Ensembl chrNW_004955414:28,825,651...28,831,117 		JBrowse link
G Sfxn2 sideroflexin 2 ISO ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:12068298 PMID:22508808 PMID:25403219 PMID:28492532 PMID:31639285 NCBI chrNW_004955485:7,716,916...7,732,122
Ensembl chrNW_004955485:7,718,039...7,732,121 		JBrowse link
G Shh sonic hedgehog signaling molecule ISO RGD
MouseDO		 PMID:9115210 RGD:12802345 NCBI chrNW_004955491:8,647,133...8,657,381 JBrowse link
G Smo smoothened, frizzled class receptor ISO RGD PMID:15308259 RGD:12801443 NCBI chrNW_004955479:9,963,377...9,991,670
Ensembl chrNW_004955479:9,964,170...9,993,165 		JBrowse link
G Sufu SUFU negative regulator of hedgehog signaling ISO ClinVar Annotator: match by term: Fifth Phacomatosis | ClinVar Annotator: match by term: Gorlin syndrome
ClinVar Annotator: match by term: Basal cell nevus syndrome | ClinVar Annotator: match by term: Fifth Phacomatosis | ClinVar Annotator: match by term: Gorlin syndrome		 ClinVar PMID:9536098 PMID:12068298 PMID:16199547 PMID:17102621 PMID:17576681 More... NCBI chrNW_004955485:7,805,244...7,925,414
Ensembl chrNW_004955485:7,808,131...7,925,677 		JBrowse link
G Trim8 tripartite motif containing 8 ISO ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:12068298 PMID:22508808 PMID:25403219 PMID:28492532 PMID:31639285 NCBI chrNW_004955485:7,784,625...7,798,131
Ensembl chrNW_004955485:7,782,794...7,797,022 		JBrowse link
G Wbp1l WW domain binding protein 1 like ISO ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:12068298 PMID:22508808 PMID:25403219 PMID:28492532 PMID:31639285 NCBI chrNW_004955485:7,655,921...7,710,387
Ensembl chrNW_004955485:7,655,221...7,710,402 		JBrowse link
nevoid basal cell carcinoma syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Basal cell nevus syndrome 1 OMIM
ClinVar		 PMID:20301330 PMID:25741868 NCBI chrNW_004955422:22,362,330...22,418,062
Ensembl chrNW_004955422:22,362,221...22,427,622 		JBrowse link
nevoid basal cell carcinoma syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sufu SUFU negative regulator of hedgehog signaling 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 chrNW_004955485:7,805,244...7,925,414
Ensembl chrNW_004955485:7,808,131...7,925,677 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14197
    Developmental Disease 12372
      bone development disease 2155
        nevoid basal cell carcinoma syndrome 15
          Aloi Tomasini Isaia Syndrome 0
          nevoid basal cell carcinoma syndrome 1 1
          nevoid basal cell carcinoma syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 14197
    disease of anatomical entity 13866
      nervous system disease 12143
        Neurologic Manifestations 8911
          sensory system disease 6250
            skin disease 3603
              Skin Neoplasms 484
                skin cancer 257
                  skin carcinoma 169
                    basal cell carcinoma 156
                      nevoid basal cell carcinoma syndrome 15
                        Aloi Tomasini Isaia Syndrome 0
                        nevoid basal cell carcinoma syndrome 1 1
                        nevoid basal cell carcinoma syndrome 2 1
paths to the root