DHCR7, 7-dehydrocholesterol reductase, 1717

N. diseases: 266; N. variants: 96
Disease: Polydactyly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.020 Biomarker disease BEFREE The specific association of AVCD and anomalous pulmonary venous return in patients with RSH/SLOS and the finding of AVCD +/- common atrium in several syndromes with polydactyly leads to the hypothesis that heterotaxia due to SHH anomalies could be involved in a large spectrum of conditions. 12797454 2003
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.020 Biomarker disease BEFREE Of these five RSH/SLOS fetuses identified in pregnancies not otherwise at risk for RSH/SLOS, the presenting sonographic anomaly was either polydactyly, ambiguous genitalia, or both. 10069707 1999