| Metadata | |
|---|---|
| ID | DOID:0111664 |
| Name | ectodermal dysplasia 1 |
| Definition | A hypohidrotic ectodermal dysplasia that has_material_basis_in X-linked recessive mutation in EDA on chromosome Xq13.1. https://www.ncbi.nlm.nih.gov/pubmed/8434608 |
| Xrefs |
SNOMEDCT_US_2023_03_01:239007005 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
Christ-Siemens-Touraine syndrome [EXACT] CST syndrome [EXACT] ectodermal dysplasia 1, anhidrotic [EXACT] ectodermal dysplasia 1, hypohidrotic, X-linked [EXACT] ectodermal dysplasia 1, hypohidrotic/hair/tooth type, X-linked [EXACT] ED1 [EXACT] HED1 [EXACT] hypohidrotic ectodermal dysplasia, X-Linked [EXACT] X-linked anhidrotic ectodermal dysplasia [EXACT] XHED [EXACT] XLHED [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some X-linked recessive inheritance |