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Standards Ontologies Notations
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
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 4 entries
Gene ID Gene Symbol Description Source
2735 GLI1 GLI family zinc finger 1
5727 PTCH1 patched 1
6469 SHH sonic hedgehog signaling molecule
6608 SMO smoothened, frizzled class receptor
Displaying all 3 entries
Gene ID Gene Symbol Description Source
19206 Ptch1 patched 1
20423 Shh sonic hedgehog
319757 Smo smoothened, frizzled class receptor
Displaying all 2 entries
Gene ID Gene Symbol Description Source
25273 Smo smoothened, frizzled class receptor
29499 Shh sonic hedgehog signaling molecule
Displaying all 2 entries
Gene ID Gene Symbol Description Source
33196 smo smoothened
35851 ptc patched
Displaying 1 entry
Gene ID Gene Symbol Description Source
30225 smo smoothened, frizzled class receptor
Displaying all 4 entries
Gene ID Gene Symbol Description Source
173631 ptc-3 Protein patched homolog 3
174274 ptc-1 Protein patched homolog 1;SSD domain-containing protein
180349 grd-2 Ground-like domain-containing protein
180638 wrt-6 Warthog protein 6 N-product
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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

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Last updated: December 9, 2024