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Concept information

disease > genetic disease > hereditary disease > metaphyseal chondrodysplasia > cartilage hair hypoplasia
disease > diseases of the osteoarticular system > osteochondrodysplasia > metaphyseal chondrodysplasia > cartilage hair hypoplasia

Terme préférentiel

cartilage hair hypoplasia  

Définition(s)

  • 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)

Concept(s) générique(s)

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URI

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

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RDF/XML TURTLE JSON-LD Dernière modif. 14/05/2020