nevoid basal cell carcinoma syndrome

Summary

DOID:2512 - nevoid basal cell carcinoma syndrome

Disease Ontology Definition:A syndrome characterized by multiple early-onset basal cell carcinoma, multiple jaw keratocysts and skeletal abnormalities.

Synonyms: Gorlin syndrome, NBCCS, basal cell nevus syndrome,

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

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0007187 - nevoid basal cell carcinoma syndrome

MONDO:0007187 - nevoid basal cell carcinoma syndrome

OMIM:

OMIM:109400 - BASAL CELL NEVUS SYNDROME 1; BCNS1

OMIM:109400 - BASAL CELL NEVUS SYNDROME 1; BCNS1

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

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

Parent(s): autosomal dominant disease (is_a), syndrome (is_a)