immunodeficiency-centromeric instability-facial anomalies syndrome

Summary

DOID:0090007 - immunodeficiency-centromeric instability-facial anomalies syndrome

Disease Ontology Definition:A syndrome characterized by immunodeficiency, rearrangements in the vicinity of the centromeres of chromosomes 1, 9, and 16 and facial anomalies in most cases.

Synonyms: ICF syndrome,

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: zbtb24, cdca7, hells

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0000133 - immunodeficiency-centromeric instability-facial anomalies syndrome

MONDO:0000133 - immunodeficiency-centromeric instability-facial anomalies syndrome

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), syndrome (is_a)