| 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 the KCTD1 gene on chromosome 18q11.2. https://www.ncbi.nlm.nih.gov/pubmed/23541344, https://ghr.nlm.nih.gov/condition/scalp-ear-nipple-syndrome |
| Xrefs |
SNOMEDCT_US_2023_03_01:721888002 |
| Subsets |
DO_rare_slim |
| 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 autosomal dominant disease is_a ectodermal dysplasia |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |