skeletal dysplasia TRIP11-related skeletal dysplasia 2024-07-11T09:51:52Z https://github.com/monarch-initiative/mondo/issues/7782 MONDO:1040009 Any skeletal dysplasia in which the cause of the disease is a variation in the TRIP11 gene. Reduced protein function in TRIP11 causes a spectrum of skeletal symptoms from a more mild phenotype, called ondontochondrodysplasia, with features including short stature and joint laxity to a more severe phenotype, called achondrogenesis type 1A, which presents as a lethal prenatal or neonatal skeletal dysplasia. The clinical severity of achondrogenesis compared to ondontochondrodysplasia is related to the residual function of the gene which is not currently possible to anticipate based on genotype alone. The phenotype cannot fully be predicted by genotype alone, evidenced by variants being reported with both phenotypes.