Disease: Chondrodysplasia punctata, X-linked dominant type ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0282102
Disease: Chondrodysplasia punctata, X-linked dominant type
Chondrodysplasia punctata, X-linked dominant type 		0.210 GeneticVariation disease BEFREE X-linked dominant chondrodysplasia punctata (Conradi-Hunermann-Happle syndrome, CDPX2) caused by mutations in the emopamil-binding protein (EBP) gene and congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD) syndrome caused by mutation in the NAD(P)H steroid dehydrogenase-like (NSDHL) gene are rare, typically male lethal disorders. 31034146 2019
CUI: C0282102
Disease: Chondrodysplasia punctata, X-linked dominant type
Chondrodysplasia punctata, X-linked dominant type 		0.210 Biomarker disease MGD Placental defects are associated with male lethality in bare patches and striated embryos deficient in the NAD(P)H Steroid Dehydrogenase-like (NSDHL) Enzyme. 15639195 2005
CUI: C0282102
Disease: Chondrodysplasia punctata, X-linked dominant type
Chondrodysplasia punctata, X-linked dominant type 		0.210 Biomarker disease MGD Homologous genes for X-linked chondrodysplasia punctata in man and mouse. 6682087 1983
CUI: C0282102
Disease: Chondrodysplasia punctata, X-linked dominant type
Chondrodysplasia punctata, X-linked dominant type 		0.210 Biomarker disease MGD Bare-patches, a new sex-linked gene in the mouse, associated with a high production of XO females. I. A preliminary report of breeding experiments. 4588955 1973