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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 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: GARD:7166;   NCI:C2892;   ORDO:377
For additional species annotation, visit the Alliance of Genome Resources.


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 ISO ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:17703323, PMID:22382802, PMID:28492532 NCBI chr17:507,389...825,062
Ensembl chr17:507,377...821,582
JBrowse link
G Fancc FA complementation group C ISO ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:17703323, PMID:22382802, PMID:28492532 NCBI chr17:826,512...955,703
Ensembl chr17:833,509...955,615
JBrowse link
G Gli1 GLI family zinc finger 1 ISO RGD PMID:15308259 RGD:12801443 NCBI chr 7:70,620,794...70,633,171
Ensembl chr 7:70,620,766...70,630,338
JBrowse link
G Gli2 GLI family zinc finger 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16936257 NCBI chr13:34,829,021...35,049,172
Ensembl chr13:34,829,139...35,048,444
JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Gorlin syndrome
ClinVar Annotator: match by term: Fifth Phacomatosis
ClinVar Annotator: match by term: Basal cell nevus 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 Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:109400
OMIM
ClinVar
CTD
PMID:1347096, PMID:8302318, PMID:8658145, PMID:8681379, PMID:8840969, PMID:8981943, PMID:9096761, PMID:9231911, PMID:9341860, PMID:9415689, PMID:9463336, PMID:9620294, PMID:10048928, PMID:10200051, PMID:10564585, PMID:11231326, PMID:11457640, PMID:11941477, PMID:12192414, PMID:12204003, PMID:12655573, PMID:12879481, PMID:12900905, PMID:12925203, PMID:15042702, PMID:15459969, PMID:15545745, PMID:15565302, PMID:15712338, PMID:16088933, 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:17703323, 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:21520333, PMID:21567912, PMID:22313357, PMID:22382802, PMID:22572734, PMID:22675565, PMID:22703879, PMID:22820256, PMID:22829011, 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:25117323, PMID:25131638, PMID:25260786, PMID:25326635, PMID:25403219, PMID:25525159, PMID:25559776, PMID:25567908, PMID:25637381, PMID:25741868, PMID:25876211, PMID:26356331, PMID:26489027, PMID:26544948, PMID:26604511, PMID:26802149, PMID:26893459, PMID:26997948, PMID:27028851, PMID:27153395, PMID:27535533, PMID:27561271, PMID:27793025, PMID:27930734, PMID:28342698, PMID:28492532, PMID:28596197, PMID:28690523, PMID:28733979, PMID:28873162, PMID:29212164, PMID:29575684, PMID:29654263, PMID:29983323, PMID:30166346, PMID:30311386, PMID:30411536, PMID:31837199, PMID:23897749, PMID:19557015, PMID:15308259, PMID:21514272, PMID:12925203 RGD:13207424, RGD:13207421, RGD:12801443, RGD:12801422, RGD:12798568 NCBI chr17:1,032,242...1,085,885
Ensembl chr17:1,029,048...1,093,873
JBrowse link
G Ptch2 patched 2 ISO ClinVar Annotator: match by term: Gorlin syndrome ClinVar
OMIM
PMID:18285427, PMID:25741868, PMID:28492532 NCBI chr 5:135,962,252...135,983,816
Ensembl chr 5:135,962,911...135,983,816
JBrowse link
G Pth parathyroid hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:24803734 NCBI chr 1:178,215,829...178,218,761
Ensembl chr 1:178,215,829...178,218,761
JBrowse link
G Shh sonic hedgehog signaling molecule ISO RGD PMID:9115210 RGD:12802345 NCBI chr 4:718,538...727,691
Ensembl chr 4:718,538...727,691
JBrowse link
G Smo smoothened, frizzled class receptor ISO RGD PMID:15308259 RGD:12801443 NCBI chr 4:57,019,941...57,041,779
Ensembl chr 4:57,019,941...57,042,770
JBrowse link
G Sufu SUFU negative regulator of hedgehog signaling ISO ClinVar Annotator: match by term: Gorlin syndrome OMIM
ClinVar
PMID:12068298, PMID:19533801, PMID:19833601, PMID:21188540, PMID:22508808, PMID:22810696, PMID:23826113, PMID:24728327, PMID:25403219, PMID:25741868, PMID:26184317, PMID:27363716, PMID:27930734, PMID:28050010, PMID:28492532, PMID:28965847, PMID:29641532, PMID:29654263, PMID:30256826 NCBI chr 1:266,143,766...266,241,742
Ensembl chr 1:266,143,818...266,239,016
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      bone development disease 1330
        nevoid basal cell carcinoma syndrome 10
          Aloi Tomasini Isaia Syndrome 0
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        sensory system disease 5162
          skin disease 2749
            Skin Neoplasms 230
              skin cancer 118
                skin carcinoma 54
                  basal cell carcinoma 46
                    nevoid basal cell carcinoma syndrome 10
                      Aloi Tomasini Isaia Syndrome 0
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.