Search Ontology:
Human Disease

scalp-ear-nipple syndrome

Term ID
DOID:0111550
Synonyms
  • Finlay-Marks syndrome
  • hereditary syndrome of lumpy scalp, odd ears and rudimentary nipples
  • Sen Syndrome
  • SENS
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. (2)
References
Ontology
Human Disease   ( DOID:0111550 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models