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
Accession: DOID:2512
browse the term
Definition: A syndrome characterized by multiple early-onset basal cell carcinoma, multiple jaw keratocysts and skeletal abnormalities that has_material_basis_in heterozygous mutation in either PTCH1, PTCH2, or SUFU on chromosome 9q22, 1p32, or 10q24-q25, respectively. (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
alt_id: OMIM:109400
xref: EFO:0004136 ; GARD:7166 ; MONDO:0007187 ; NCI:C2892 ; ORDO:377
For additional species annotation, visit the
Alliance of Genome Resources .
G
Aopep
aminopeptidase O
ISO
ClinVar Annotator: match by term: Gorlin syndrome
ClinVar
PMID:17703323 PMID:17924555 PMID:22382802 PMID:28492532
NCBI chr17:1,811,922...2,127,316
Ensembl chr17:1,811,980...2,127,331
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 chr 1:245,400,659...245,446,673
Ensembl chr 1:245,400,550...245,446,820
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 1:245,535,462...245,543,148
Ensembl chr 1:245,535,462...245,541,573
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 PMID:28492532 More...
NCBI chr17:1,680,660...1,822,610
Ensembl chr17:1,681,324...1,829,376
G
Gli1
GLI family zinc finger 1
ISO
RGD
PMID:15308259
RGD:12801443
NCBI chr 7:63,156,926...63,169,579
Ensembl chr 7:63,156,926...63,169,251
G
Gli2
GLI family zinc finger 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16936257
NCBI chr13:29,946,809...30,163,901
Ensembl chr13:29,946,809...30,163,574
G
Ptch1
patched 1
ISO
CTD Direct Evidence: marker/mechanism DNA:mutations:exon, intron:multiple DNA:missense mutation:exon:p.E237EK (897G>A) (human) DNA: nonsense mutation:exon:p.W399* (human) DNA: splice-site mutation :exon ClinVar Annotator: match by term: Basal cell nevus syndrome | ClinVar Annotator: match by term: Fifth Phacomatosis | ClinVar Annotator: match by term: Gorlin syndrome
OMIM CTD ClinVar RGD
PMID:1347096 PMID:8302318 PMID:8658145 PMID:8681379 PMID:8840969 PMID:8981943 PMID:9096761 PMID:9231911 PMID:9415689 PMID:9463336 PMID:9536098 PMID:9620294 PMID:10048928 PMID:10200051 PMID:10564585 PMID:11457640 PMID:11941477 PMID:12204003 PMID:12655573 PMID:12879481 PMID:12900905 PMID:12925203 PMID:15042702 PMID:15290653 PMID:15459969 PMID:15545745 PMID:15565302 PMID:15712338 PMID:16088933 PMID:16199547 PMID:16203740 PMID:16231297 PMID:16301862 PMID:16405370 PMID:16419085 PMID:16508594 PMID:16909134 PMID:16929110 PMID:16931872 PMID:16936257 PMID:17001668 PMID:17021131 PMID:17096318 PMID:17576681 PMID:17703323 PMID:17924555 PMID:18302678 PMID:18373848 PMID:18477452 PMID:18502968 PMID:18510667 PMID:18539553 PMID:18830227 PMID:19002359 PMID:19287498 PMID:19346217 PMID:19557015 PMID:20068110 PMID:20301330 PMID:20485063 PMID:21188540 PMID:21490102 PMID:21514272 PMID:21520333 PMID:21567912 PMID:22193408 PMID:22221699 PMID:22313357 PMID:22382802 PMID:22434048 PMID:22572734 PMID:22675565 PMID:22703879 PMID:22820256 PMID:22952776 PMID:22995991 PMID:23061468 PMID:23313819 PMID:23334667 PMID:23761049 PMID:23951062 PMID:24033266 PMID:24055113 PMID:24204797 PMID:24335643 PMID:24368541 PMID:24529220 PMID:24668667 PMID:24728327 PMID:24814739 PMID:24942795 PMID:25131638 PMID:25260786 PMID:25326635 PMID:25403219 PMID:25525159 PMID:25559776 PMID:25567908 PMID:25637381 PMID:25640679 PMID:25741868 PMID:25876211 PMID:26356331 PMID:26467025 PMID:26489027 PMID:26544948 PMID:26559152 PMID:26580448 PMID:26604511 PMID:26802149 PMID:26893459 PMID:27028851 PMID:27153395 PMID:27535533 PMID:27561271 PMID:27793025 PMID:27930734 PMID:28342698 PMID:28492532 PMID:28596197 PMID:28627087 PMID:28690523 PMID:28733979 PMID:28873162 PMID:29146900 PMID:29205322 PMID:29212164 PMID:29230040 PMID:29277811 PMID:29381605 PMID:29498494 PMID:29575684 PMID:29641532 PMID:29654263 PMID:29983323 PMID:30032850 PMID:30093976 PMID:30102335 PMID:30166346 PMID:30262796 PMID:30368514 PMID:30411536 PMID:30584090 PMID:30666157 PMID:30754660 PMID:30936464 PMID:30997576 PMID:31127104 PMID:31180159 PMID:31437519 PMID:31548691 PMID:31639285 PMID:31645765 PMID:31655866 PMID:31837199 PMID:32074614 PMID:32238911 PMID:32251017 PMID:32311334 PMID:32321774 PMID:32409749 PMID:32906206 PMID:33077954 PMID:33209614 PMID:33270637 PMID:33332384 PMID:33418956 PMID:33466296 PMID:33609447 PMID:33729574 PMID:34008892 PMID:34426522 PMID:34831015 PMID:12925203 PMID:21514272 PMID:15308259 PMID:19557015 PMID:23897749 More...
RGD:12798568 , RGD:12801422 , RGD:12801443 , RGD:13207421 , RGD:13207424
NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
G
Ptch2
patched 2
ISO
ClinVar Annotator: match by term: Fifth Phacomatosis | ClinVar Annotator: match by term: Gorlin syndrome
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18285427 PMID:23951062 PMID:25741868 PMID:28166811 PMID:28492532 PMID:28915250 PMID:32864857 More...
NCBI chr 5:130,571,956...130,592,506
Ensembl chr 5:130,572,312...130,592,405
G
Pth
parathyroid hormone
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24803734
NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530
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 1:245,447,014...245,459,312
Ensembl chr 1:245,447,015...245,468,411 Ensembl chr 1:245,447,015...245,468,411
G
Shh
sonic hedgehog signaling molecule
ISO ISS
OMIM:109400
MouseDO RGD
PMID:9115210
RGD:12802345
NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170
G
Smo
smoothened, frizzled class receptor
ISO
RGD
PMID:15308259
RGD:12801443
NCBI chr 4:58,344,101...58,372,828
Ensembl chr 4:58,343,529...58,373,829
G
Sufu
SUFU negative regulator of hedgehog signaling
ISO
ClinVar Annotator: match by term: Fifth Phacomatosis | ClinVar Annotator: match by term: Gorlin syndrome
OMIM ClinVar
PMID:9536098 PMID:12068298 PMID:16199547 PMID:17102621 PMID:17576681 PMID:19533801 PMID:19833601 PMID:21188540 PMID:22508808 PMID:23826113 PMID:24651015 PMID:24728327 PMID:25403219 PMID:25640679 PMID:25741868 PMID:26467025 PMID:26580448 PMID:26677030 PMID:27363716 PMID:27930734 PMID:28050010 PMID:28166811 PMID:28492532 PMID:28717660 PMID:28873162 PMID:28965847 PMID:29186568 PMID:29356994 PMID:29641532 PMID:29654263 PMID:29753700 PMID:30256826 PMID:31639285 PMID:32278351 PMID:34056767 More...
NCBI chr 1:245,257,725...245,355,576
Ensembl chr 1:245,257,768...245,355,577
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 1:245,369,632...245,384,513
Ensembl chr 1:245,369,632...245,384,513
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 1:245,472,292...245,528,627
Ensembl chr 1:245,472,296...245,528,627
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all