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Concept information

Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Abnormalities, Multiple > Ectodermal Dysplasia > Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Skin Diseases, Genetic > Ectodermal Dysplasia > Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive
Skin and Connective Tissue Diseases > Skin Diseases > Skin Diseases, Genetic > Ectodermal Dysplasia > Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive
Skin and Connective Tissue Diseases > Skin Diseases > Skin Abnormalities > Ectodermal Dysplasia > Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Skin Abnormalities > Ectodermal Dysplasia > Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive

Terme préférentiel

Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive  

Type

  • mesh:Descriptor

Définition

  • An autosomal recessive form of ectodermal dysplasia which is due to mutations in the gene for the EDAR RECEPTOR or EDAR-ASSOCIATED DEATH DOMAIN PROTEIN.

Concept générique

Concepts associés

Synonyme(s)

  • Anhidridic Ectodermal Dysplasia, Autosomal Recessive
  • Anhidrotic Ectodermal Dysplasia, Autosomal Recessive
  • Anhydridic Ectodermal Dysplasia, Autosomal Recessive
  • Autosomal Recessive Anhidrotic Ectodermal Dysplasia
  • Autosomal Recessive Anhydrotic Ectodermal Dysplasia
  • Ectodermal Dysplasia, Anhidrotic, Autosomal Recessive
  • Ectodermal Dysplasia, Hypohydrotic, Autosomal Recessive

Qualificatif(s) autorisé(s)

Traductions

URI

http://data.loterre.fr/ark:/67375/JVR-M8K8W651-2

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RDF/XML TURTLE JSON-LD Date de création 05/07/2006, dernière modification le 18/06/2015