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Hyper Ige Recurrent Infection Syndrome 2

Disease ID: disease_node_17341

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DbxrefGARD:2816, MIM:243700, ORDO:217390
SubclassofDOID_0080545, DOID_0050737
Data SourceDOID
Doid Labelhyper IgE recurrent infection syndrome 2
Doid DescriptionA hyper IgE syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the DOCK8 gene on chromosome 9p24.
Has Material Basis InGENO_0000148
Disease Node Iddisease_node_17341
Doid IdDOID_0080594
LabelHyper Ige Recurrent Infection Syndrome 2