FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
Help Close All Open All
General Information
Term scalp-ear-nipple syndrome ID (Ontology) DOID:0111550 (Human Disease)
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.
Also Known As "Finlay-Marks syndrome" ; "hereditary syndrome of lumpy scalp, odd ears and rudimentary nipples" ; "Sen Syndrome" (for all, see Synonyms field below)
Comment
Links to External Ontologies
DO.org
Annotations
Records annotated with this term OR any of its CHILD TERMS
    Results list data from multiple species. Click on a button above and use the 'Filter by species' options on the resulting HitList to retrieve species-specific data.
Records annotated with this exact term (annotations to child terms are NOT included)
No relevant records available
show Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
 Full annotation statements 
Relevant FlyBase reports
 Genes
 scalp-ear-nipple syndrome       1
 for disease ribbon | scalp-ear-nipple syndrome       1
 model of | scalp-ear-nipple syndrome       1
Spanning Tree (Parents/Children)
Only view relationship: 
autosomal genetic disease
 |__autosomal dominant disease__
syndrome                        |
 |__ectodermal dysplasia________|
                                scalp-ear-nipple syndrome  1 rec.
Spanning Tree View Settings
Parents/Children
View Depth
Show hierarchy levels: for parents, for children
hide Relationships
Is a autosomal dominant disease
ectodermal dysplasia
Part of
hide Synonyms & Secondary IDs
Synonyms
  • "Finlay-Marks syndrome" EXACT
    "hereditary syndrome of lumpy scalp, odd ears and rudimentary nipples" EXACT
    "Sen Syndrome" EXACT
    "SENS" EXACT OMO:0003012
Secondary IDs
hide External Crossreferences & Linkouts
GARD:159
MESH:C536623
MIM:181270
ORDO:2036
SNOMEDCT_US_2023_03_01:721888002
UMLS_CUI:C1867020