Disease-gene associations mined from literature

Human genes for scalp-ear-nipple syndrome

Scalp-ear-nipple syndrome [DOID:0111550]

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 KCTD1 on chromosome 18q11.2.

Synonyms:  scalp-ear-nipple syndrome,  DOID:0111550,  scalpearnipple syndrome,  scalp-ear-nipple disease,  scalp-ear-nipple disorder ...