Preferred Name |
scalp-ear-nipple syndrome |
Synonyms |
Finlay-Marks syndrome |
Definitions |
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. |
ID |
http://purl.obolibrary.org/obo/DOID_0111550 |
database_cross_reference |
OMIM:181270 SNOMEDCT_US_2022_09_01:721888002 GARD:159 ORDO:2036 UMLS_CUI:C1867020 MESH:C536623 |
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. |
has exact synonym |
Finlay-Marks syndrome hereditary syndrome of lumpy scalp, odd ears and rudimentary nipples Sen Syndrome SENS |
has material basis in | |
has_obo_namespace |
disease_ontology |
id |
DOID:0111550 |
in_subset | |
label |
scalp-ear-nipple syndrome |
notation |
DOID:0111550 |
prefLabel |
scalp-ear-nipple syndrome |
subClassOf |