Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0878787
Disease: Growth failure
Growth failure
0.030 GeneticVariation phenotype BEFREE Its mutations cause cartilage-hair hypoplasia (CHH), an autosomal recessive skeletal dysplasia with growth failure, immunodeficiency, and a high risk for malignancies. 31551465 2019
CUI: C0878787
Disease: Growth failure
Growth failure
0.030 Biomarker phenotype BEFREE Patients with bronchiectasis tended to have more severe growth failure and more often had defective humoral immunity than the general cartilage-hair hypoplasia population. 18280853 2008
CUI: C0878787
Disease: Growth failure
Growth failure
0.030 Biomarker phenotype BEFREE Cartilage-hair hypoplasia (CHH) is an autosomal recessive chondrodysplasia with severe growth failure and impaired immunity. 11124791 2001