Disease association ontology term - MONDO:0012997 - cholestasis-pigmentary retinopathy-cleft palate syndrome
Term summary
- ID
- MONDO:0012997
- Name
- cholestasis-pigmentary retinopathy-cleft palate syndrome
- Ontology or CV name
- Disease association
- Definition
- Cholestasis- pigmentary retinopathy- cleft palate is a syndrome of multiple congenital malformations, characterized by an association of cleft lip and palate, patchy pigmentary retinopathy (cat's paw), obstructive liver disease (cholestasis, portal hypertension etc.) and obstructive renal disease (ectopic ureteric insertion, obstruction, vesicouretral reflux and hydronephrosis). Gastrointestinal tract involvement (malrotation, gastresophageal reflux etc.) and cardiac involvement (coarctation of aorta, pulmonary artery stenosis etc) have also been reported. An overlap with Kabuki syndrome is debated.
