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Human Diseases (thesaurus)

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Concept information

Preferred term

cartilage hair hypoplasia  

Definition

  • Cartilage–hair hypoplasia (CHH) is a rare genetic disorder. Symptoms may include short-limbed dwarfism due to skeletal dysplasia, variable level of immunodeficiency, and predisposition to cancer. (Wikipedia)

In other languages

URI

http://data.loterre.fr/ark:/67375/VH8-HKTFLZB5-B

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