Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4552011
Disease: Gonadotropin deficiency
Gonadotropin deficiency
0.110 GeneticVariation disease BEFREE We describe the case of a girl with a novel heterozygous deletion in exon 15 of the CHD7 gene and combined agenesis of uterus and ovaries, besides gonadotropin deficiency, thus expanding the geno-phenotype of CHARGE syndrome. 26741373 2016
CUI: C4552011
Disease: Gonadotropin deficiency
Gonadotropin deficiency
0.110 Biomarker disease HPO