OBO ID: DOID:0111550
Term Name: scalp-ear-nipple syndrome Search Ontology:
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 scalp-ear-nipple syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
KCTD1 Scalp-ear-nipple syndrome 181270
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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