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Disease Ontology Browser
scalp-ear-nipple syndrome (DOID:0111550)
Alliance: disease page
Synonyms: Finlay-Marks syndrome; hereditary syndrome of lumpy scalp, odd ears and rudimentary nipples; Sen Syndrome; SENS
Alt IDs: OMIM:181270, MESH:C536623, ORDO:2036, UMLS_CUI:C1867020
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.

Disease References using Mouse Models (1)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory