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hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome

Disease Summary
Associated Targets (1)
Tbio

1


Uniprot Description A multisystem disorder characterized by onset in infancy of progressive renal failure leading to electrolyte imbalances, metabolic alkalosis, pulmonary hypertension, hypotonia, and delayed development. Affected individuals are born prematurely.
Mondo Term and Equivalent IDs
MONDO:0013458:  hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
Orphanet:363694: 
UMLS:C3151209: