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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:Multiple Basal Cell Carcinoma
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Accession:DOID:9007729 term browser browse the term
Synonyms:primary_id: MESH:C537656
 alt_id: RDO:0003533


show annotations for term's descendants           Sort by:
Multiple Basal Cell Carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccnh cyclin H ISO ClinVar Annotator: match by term: Basal cell carcinoma, multiple ClinVar PMID:24038909 PMID:25741868 PMID:28492532 NCBI chr 2:17,570,449...17,591,078
Ensembl chr 2:15,834,833...15,855,819 		JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Basal cell carcinoma, multiple ClinVar PMID:22703879 PMID:24728327 PMID:25637381 PMID:25741868 PMID:26467025 More... NCBI chr17:1,548,449...1,613,461
Ensembl chr17:1,542,877...1,607,333 		JBrowse link
G Ptch2 patched 2 ISO ClinVar Annotator: match by term: Basal cell carcinoma, multiple ClinVar PMID:25741868 PMID:28492532 PMID:31945512 NCBI chr 5:135,808,856...135,829,087
Ensembl chr 5:130,572,312...130,592,405 		JBrowse link
G Rasa1 RAS p21 protein activator 1 ISO ClinVar Annotator: match by term: Basal cell carcinoma, multiple ClinVar PMID:22200646 PMID:23801933 PMID:24038909 PMID:25741868 PMID:28492532 NCBI chr 2:17,593,136...17,676,707
Ensembl chr 2:15,857,980...15,940,854 		JBrowse link
G Smo smoothened, frizzled class receptor ISO ClinVar Annotator: match by term: Basal cell carcinoma, multiple ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:59,311,084...59,341,280
Ensembl chr 4:58,343,529...58,373,829 		JBrowse link
nevoid basal cell carcinoma syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aopep aminopeptidase O ISO ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:17703323 PMID:17924555 PMID:22382802 PMID:28492532 NCBI chr17:1,817,001...2,133,008
Ensembl chr17:1,811,980...2,127,331 		JBrowse link
G Arl3 ARF like GTPase 3 ISO ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:12068298 PMID:22508808 PMID:25403219 PMID:28492532 PMID:31639285 NCBI chr 1:255,342,078...255,388,087
Ensembl chr 1:245,400,550...245,446,820 		JBrowse link
G Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:12068298 PMID:22508808 PMID:25403219 PMID:28492532 PMID:31639285 NCBI chr 1:255,476,861...255,484,547
Ensembl chr 1:245,535,462...245,541,573 		JBrowse link
G Fancc FA complementation group C ISO ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:16301862 PMID:16419085 PMID:17703323 PMID:17924555 PMID:22382802 More... NCBI chr17:1,686,374...1,818,672
Ensembl chr17:1,681,324...1,829,376 		JBrowse link
G Gli1 GLI family zinc finger 1 ISO RGD PMID:15308259 RGD:12801443 NCBI chr 7:65,042,237...65,054,888
Ensembl chr 7:63,156,926...63,169,251 		JBrowse link
G Gli2 GLI family zinc finger 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16936257 NCBI chr13:32,499,678...32,716,418
Ensembl chr13:29,946,809...30,163,574 		JBrowse link
G Ptch1 patched 1 ISO
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Basal cell nevus syndrome | ClinVar Annotator: match by term: Gorlin syndrome | ClinVar Annotator: match by term: MULTIPLE BASAL CELL NEVI, ODONTOGENIC KERATOCYSTS, AND SKELETAL ANOMALIES
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
DNA: splice-site mutation :exon
DNA: nonsense mutation:exon:p.W399* (human)
DNA:missense mutation:exon:p.E237EK (897G>A) (human)
DNA:mutations:exon, intron:multiple		 CTD
ClinVar
MouseDO
RGD		 PMID:1347096 PMID:1850296 PMID:8302318 PMID:8658145 PMID:8681379 More... RGD:13207424, RGD:13207421, RGD:12801443, RGD:12801422, RGD:12798568 NCBI chr17:1,548,449...1,613,461
Ensembl chr17:1,542,877...1,607,333 		JBrowse link
G Ptch2 patched 2 ISO ClinVar Annotator: match by term: Basal cell nevus syndrome | ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:18285427 PMID:23951062 More... NCBI chr 5:135,808,856...135,829,087
Ensembl chr 5:130,572,312...130,592,405 		JBrowse link
G Pth parathyroid hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:24803734 NCBI chr 1:176,942,901...176,946,034
Ensembl chr 1:167,508,598...167,511,530 		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 chr 1:255,388,428...255,400,724
Ensembl chr 1:245,447,015...245,468,411
Ensembl chr 1:245,447,015...245,468,411 		JBrowse link
G Shh sonic hedgehog signaling molecule ISO
ISS		 MouseDO
RGD		 PMID:9115210 RGD:12802345 NCBI chr 4:7,687,872...7,697,025
Ensembl chr 4:6,954,017...6,963,170 		JBrowse link
G Smo smoothened, frizzled class receptor ISO RGD PMID:15308259 RGD:12801443 NCBI chr 4:59,311,084...59,341,280
Ensembl chr 4:58,343,529...58,373,829 		JBrowse link
G Sufu SUFU negative regulator of hedgehog signaling ISS
ISO		 OMIM:109400
ClinVar Annotator: match by term: Basal cell nevus syndrome | ClinVar Annotator: match by term: Gorlin syndrome
ClinVar Annotator: match by term: Fifth Phacomatosis | ClinVar Annotator: match by term: Gorlin syndrome		 MouseDO
ClinVar		 PMID:9536098 PMID:12068298 PMID:16199547 PMID:17102621 PMID:17576681 More... NCBI chr 1:255,199,108...255,296,983
Ensembl chr 1:245,257,768...245,355,577 		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 chr 1:255,311,039...255,325,937
Ensembl chr 1:245,369,632...245,384,513 		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 chr 1:255,413,701...255,470,026
Ensembl chr 1:245,472,296...245,528,627 		JBrowse link
nevoid basal cell carcinoma syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ptch1 patched 1 ISO DNA:mutations:multiple
ClinVar Annotator: match by term: Basal cell nevus syndrome 1		 ClinVar
OMIM
RGD		 PMID:8658145 PMID:8681379 PMID:12900905 PMID:16199547 PMID:16301862 More... RGD:407424595 NCBI chr17:1,548,449...1,613,461
Ensembl chr17:1,542,877...1,607,333 		JBrowse link
G Ptch2 patched 2 ISO ClinVar Annotator: match by term: Basal cell nevus syndrome 1 ClinVar PMID:18285427 PMID:25741868 PMID:28492532 NCBI chr 5:135,808,856...135,829,087
Ensembl chr 5:130,572,312...130,592,405 		JBrowse link
G Sufu SUFU negative regulator of hedgehog signaling ISO ClinVar Annotator: match by term: Basal cell nevus syndrome 1 ClinVar PMID:28492532 NCBI chr 1:255,199,108...255,296,983
Ensembl chr 1:245,257,768...245,355,577 		JBrowse link
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 1:255,199,108...255,296,983
Ensembl chr 1:245,257,768...245,355,577 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    syndrome 11404
      Hereditary Neoplastic Syndromes 1531
        PTEN hamartoma tumor syndrome 51
          Multiple Basal Cell Carcinoma 17
            nevoid basal cell carcinoma syndrome + 15
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18451
      nervous system disease 14361
        Neurologic Manifestations 10463
          sensory system disease 7383
            skin disease 4322
              Skin Neoplasms 491
                skin cancer 254
                  skin carcinoma 174
                    basal cell carcinoma 160
                      Multiple Basal Cell Carcinoma 17
                        nevoid basal cell carcinoma syndrome + 15
paths to the root