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About: ectodermal dysplasia 1     Goto   Sponge   Distinct   Permalink

An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

AttributesValues
type
subClassOf
label
  • ectodermal dysplasia 1
described by
id
  • DOID:0111664
database_cross_reference
  • MESH:D053358
  • NCI:C84562
  • OMIM:305100
  • ORDO:181
  • SNOMEDCT_US_2021_09_01:239007005
  • UMLS_CUI:C0162359
has_exact_synonym
  • CST syndrome (en)
  • Christ-Siemens-Touraine syndrome (en)
  • ED1 (en)
  • HED1 (en)
  • X-linked anhidrotic ectodermal dysplasia (en)
  • XHED (en)
  • XLHED (en)
  • ectodermal dysplasia 1, anhidrotic (en)
  • ectodermal dysplasia 1, hypohidrotic, X-linked (en)
  • hypohidrotic ectodermal dysplasia, X-Linked (en)
  • ectodermal dysplasia 1, hypohidrotic/hair/tooth type, X-linked (en)
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • A hypohidrotic ectodermal dysplasia that has_material_basis_in X-linked recessive mutation in EDA on chromosome Xq13.1.
is topic of
is annotatedSource of
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