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Metadata
ID DOID:0111550
Name scalp-ear-nipple syndrome
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 KCTD1 on chromosome 18q11.2.
https://ghr.nlm.nih.gov/condition/scalp-ear-nipple-syndrome, https://www.ncbi.nlm.nih.gov/pubmed/23541344
Xrefs

GARD:159

MESH:C536623

OMIM:181270

ORDO:2036

SNOMEDCT_US_2020_09_01:721888002

UMLS_CUI:C1867020

Synonyms

Finlay-Marks syndrome [EXACT]

hereditary syndrome of lumpy scalp, odd ears and rudimentary nipples [EXACT]

Sen Syndrome [EXACT]

SENS [EXACT]

Parent Relationships

is_a ectodermal dysplasia

is_a autosomal dominant disease

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