nevoid basal cell carcinoma syndrome 1

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Summary

Literature (0)

DOID:0070365 - nevoid basal cell carcinoma syndrome 1

Disease Ontology Definition:A nevoid basal cell carcinoma syndrome that has_material_basis_in heterozygous mutation in the PTCH1 gene on chromosome 9q22.

Synonyms: basal cell nevus syndrome 1

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: sufu, ptch1, ptch2

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant disease (is_a), nevoid basal cell carcinoma syndrome (is_a)