loading...| 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 |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/MESH/C536623 | Medical Subject Headings | LOOM | |
| http://purl.bioontology.org/ontology/OMIM/181270 | Online Mendelian Inheritance in Man | LOOM |