Concept information
Preferred term
hypochondroplasia
Definition(s)
- Hypochondroplasia (HCH) is a developmental disorder caused by an autosomal dominant genetic defect in the fibroblast growth factor receptor 3 gene (FGFR3) that results in a disproportionately short stature, micromelia and a head that appears large in comparison with the underdeveloped portions of the body. (Wikipedia)
Broader concept(s)
In other languages
-
French
URI
http://data.loterre.fr/ark:/67375/VH8-QLJFKDL6-9
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