Disease: Congenital Abnormality ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.050 GeneticVariation group BEFREE Abernethy malformation associated with Caroli's syndrome in a patient with a PKHD1 mutation: a case report. 28814334 2017
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.050 GeneticVariation group BEFREE This report widens the phenotypic variability of PKHD1 variants to VMC, and others hepatic bile ducts malformations with inconstant renal phenotype in adults and highlights the important intra-familial phenotypic variability. 26385851 2015
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.050 Biomarker group BEFREE ARPKD is the neonatal form of PKD and is associated with enlarged kidneys and biliary dysgenesis. 18947299 2009
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.050 GeneticVariation group BEFREE Biliary and pancreatic dysgenesis in mice harboring a mutation in Pkhd1. 18202188 2008
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.050 Biomarker group BEFREE We report on 3 pairs of sibs from unrelated families, who present with polycystic kidneys Potter type I claimed to be specific for the ARPKD, and with microbrachycephaly, hypertelorism with telecanthus, large posteriorly angulated fleshy ears and various congenital malformations including congenital heart defects. 8465860 1993