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DOID:0112134 - severe congenital neutropenia 6
Disease Ontology Definition:A severe congenital neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in the JAGN1 gene on chromosome 3p25.3.
Synonyms: SCN6, autosomal recessive severe congenital neutropenia due to JAGN1 deficiency,
Xenbase Genes : jagn1
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee