scalp-ear-nipple syndrome

Summary

DOID:0111550 - scalp-ear-nipple syndrome

Disease Ontology Definition:An ectodermal dysplasia characterized by cutis aplasia of the scalp, breast anomalies that range from hypothelia or athelia to amastia, and minor anomalies of the external ears that has_material_basis_in heterozygous mutation in the KCTD1 gene on chromosome 18q11.2.

Synonyms: Finlay-Marks syndrome, hereditary syndrome of lumpy scalp, odd ears and rudimentary nipples, SENS, Sen 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

: kctd1

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), ectodermal dysplasia (is_a)