Disease: Skeletal dysplasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		0.040 GeneticVariation disease BEFREE However, it is not clear why mutations in RMRP RNA lead to skeletal dysplasia. 28743979 2017
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		0.040 GeneticVariation disease BEFREE Cartilage-hair hypoplasia is a rare, autosomal recessive skeletal dysplasia, caused by mutations in the RMRP gene. 21813924 2011
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		0.040 Biomarker disease BEFREE Cartilage-hair hypoplasia is a short limbed skeletal dysplasia associated with impairments in host-defense. 19150606 2009
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		0.040 GeneticVariation disease BEFREE Cartilage-hair hypoplasia (CHH) is an autosomal recessive skeletal dysplasia of unknown pathogenesis leading to short-limbed stature. 7981754 1993