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Standards Ontologies Notations
nevoid basal cell carcinoma syndrome 1

Summary
Synonym
  • basal cell nevus syndrome 1
Definition
A nevoid basal cell carcinoma syndrome that has_material_basis_in heterozygous mutation in the PTCH1 gene on chromosome 9q22.
Super Class
autosomal dominant disease nevoid basal cell carcinoma syndrome
Disease Ontology
DOID:0070365
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
5727 PTCH1 patched 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
19206 Ptch1 patched 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
35851 ptc patched
Displaying all 2 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
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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: December 9, 2024