FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term ectodermal dysplasia 1 ID (Ontology) DOID:0111664 (Human Disease)
Definition A hypohidrotic ectodermal dysplasia that has_material_basis_in X-linked recessive mutation in EDA on chromosome Xq13.1.
Also Known As "Christ-Siemens-Touraine syndrome" ; "CST syndrome" ; "ectodermal dysplasia 1, anhidrotic" (for all, see Synonyms field below)
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 Genes
 ectodermal dysplasia 1       1
 for disease ribbon | ectodermal dysplasia 1       1
 model of | ectodermal dysplasia 1       1
Spanning Tree (Parents/Children)
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X-linked monogenic disease
 |__X-linked recessive disease_________
ectodermal dysplasia                   |
 |__hypohidrotic ectodermal dysplasia__|
                                       ectodermal dysplasia 1  1 rec.
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Is a X-linked recessive disease
hypohidrotic ectodermal dysplasia
Part of
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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 OMO:0003012
    "HED1" EXACT OMO:0003012
    "hypohidrotic ectodermal dysplasia, X-Linked" EXACT
    "X-linked anhidrotic ectodermal dysplasia" EXACT
    "XHED" EXACT OMO:0003012
    "XLHED" EXACT OMO:0003012
Secondary IDs
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MESH:D053358
MIM:305100
NCI:C84562
ORDO:181
SNOMEDCT_US_2023_03_01:239007005
UMLS_CUI:C0162359