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Hypohidrotic ectodermal dysplasia with immunodeficiency

Disease definition

Hypohidrotic ectodermal dysplasia with immunodeficiency (HED-ID) is a type of HED (see this term) characterized by the malformation of ectodermal structures such as skin, hair, teeth and sweat glands, and associated with immunodeficiency.

ORPHA:98813

  • Synonym(s):
    • Anhidrotic ectodermal dysplasia with immunodeficiency
    • EDA-ID
    • HED-ID
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant or X-linked recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: D82.8
  • OMIM: 300291  612132
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

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