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)
Broader concept
In other languages
-
French
-
dysostose de Mac Kusick
URI
http://data.loterre.fr/ark:/67375/VH8-HKTFLZB5-B
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