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autosomal recessive severe congenital neutropenia due to JAGN1 deficiency

Disease Summary
Associated Targets (1)
Tbio

1


Uniprot Description A disorder of hematopoiesis characterized by maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections.
Mondo Term and Equivalent IDs
MONDO:0014456:  autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
Orphanet:423384: 
UMLS:C4014954: