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paroxysmal nocturnal hemoglobinuria 2

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any paroxysmal nocturnal hemoglobinuria in which the cause of the disease is a mutation in the PIGT gene.
Uniprot Description A disorder characterized by hemolytic anemia with hemoglobinuria, thromboses in large vessels, and a deficiency in hematopoiesis. Red blood cell breakdown with release of hemoglobin into the urine is manifested most prominently by dark-colored urine in the morning.
Mondo Term and Equivalent IDs
MONDO:0014166:  paroxysmal nocturnal hemoglobinuria 2
UMLS:C3809369: