nevoid basal cell carcinoma syndrome

Summary
Synonym
  • Gorlin syndrome
  • NBCCS
  • basal cell nevus syndrome
Definition
A syndrome characterized by multiple early-onset basal cell carcinoma, multiple jaw keratocysts and skeletal abnormalities.
Super Class
syndrome
Disease Ontology
DOID:2512
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
GARD
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
5727 PTCH1 patched 1
Displaying all 2 entries
Gene ID Gene Symbol Description Source
19206 Ptch1 patched 1
20423 Shh sonic hedgehog
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q13635 Protein patched homolog 1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: April 7, 2025