congenital neutropenia-myelofibrosis-nephromegaly syndrome

Rare Disease

MONDO:0014118

Also Known As

congenital neutropenia-bone marrow fibrosis-nephromegaly syndromevps45 deficiencySCN5neutropenia, severe congenital, 5, autosomal recessive

Comprehensive, easy-to-understand information about this condition

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Gene data from MyGene.info • Click to view on NCBI Gene

Kostmann syndrome

MONDO:0012548

autosomal recessive severe congenital neutropenia due to G6PC3 deficiency

MONDO:0012930

autosomal recessive severe congenital neutropenia due to JAGN1 deficiency

MONDO:0014456

autosomal recessive severe congenital neutropenia due to CSF3R deficiency

MONDO:0014865

autosomal recessive severe congenital neutropenia due to CXCR2 deficiency

MONDO:0018487