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Pearson syndrome

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Pearson syndrome is characterized by refractory sideroblastic anemia, vacuolization of bone marrow precursors and exocrine pancreatic dysfunction.
Disease Ontology Description A mitochondrial metabolism disease that is characterized by sideroblastic anemia and exocrine pancreas dysfunction.
Mondo Term and Equivalent IDs
MONDO:0010797:  Pearson syndrome
GARD:0007343: 
NCIT:C115326: 
Orphanet:699: 
SCTID:237985009: 
UMLS:C0342784: