ectodermal dysplasia 1

Term ID

DOID:0111664

Synonyms

• Christ-Siemens-Touraine syndrome
• CST syndrome
• ectodermal dysplasia 1, anhidrotic
• ectodermal dysplasia 1, hypohidrotic, X-linked
• ectodermal dysplasia 1, hypohidrotic/hair/tooth type, X-linked
• ED1
• HED1
• hypohidrotic ectodermal dysplasia, X-Linked
• X-linked anhidrotic ectodermal dysplasia
• XHED
• XLHED

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

References

• MESH:D053358
• NCI:C84562
• OMIM:305100
• ORDO:181
• SNOMEDCT_US_2023_03_01:239007005
• UMLS_CUI:C0162359

Ontology

Human Disease   ( DOID:0111664 )