MedGen

Alagille syndrome (ALGS) is a multisystem disorder with a wide spectrum of clinical variability; this variability is seen even among individuals from the same family. The major clinical manifestations of ALGS are bile duct paucity on liver biopsy, cholestasis, congenital cardiac defects (primarily involving the pulmonary arteries), butterfly vertebrae, ophthalmologic abnormalities (most commonly posterior embryotoxon), and characteristic facial features. Renal abnormalities, growth failure, developmental delays, splenomegaly, and vascular abnormalities may also occur. [from GeneReviews]

Any COACH syndrome in which the cause of the disease is a variation in the TMEM67 gene. [from MONDO]

Any familial hypocalciuric hypercalcemia in which the cause of the disease is a mutation in the AP2S1 gene. [from MONDO]

The presence of many cysts in the medulla of the kidney. [from HPO]