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Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome

Disease ID: disease_node_20256

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DbxrefICD10CM:D84.8, MIM:PS242860, ORDO:2268
SubclassofDOID_225, DOID_0050737
Data SourceDOID
SynonymsICF syndrome
Doid Labelimmunodeficiency-centromeric instability-facial anomalies syndrome
Doid DescriptionA syndrome characterized by immunodeficiency, rearrangements in the vicinity of the centromeres of chromosomes 1, 9, and 16 and facial anomalies in most cases.
Has Material Basis InGENO_0000148
Disease Node Iddisease_node_20256
Doid IdDOID_0090007
LabelImmunodeficiency-Centromeric Instability-Facial Anomalies Syndrome