immunodeficiency-centromeric instability-facial anomalies syndrome 2

Summary

DOID:0090009 - immunodeficiency-centromeric instability-facial anomalies syndrome 2

Disease Ontology Definition:An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, facial dysmorphism, immunoglobulin deficiency resulting in recurrent infections, and mental retardation that has_material_basis_in homozygous or compound heterozygous mutation in the ZBTB24 gene on chromosome 6q21.

Synonyms: ICF syndrome 2,

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

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0013553 - immunodeficiency-centromeric instability-facial anomalies syndrome 2

MONDO:0013553 - immunodeficiency-centromeric instability-facial anomalies syndrome 2

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

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

Parent(s): immunodeficiency-centromeric instability-facial anomalies syndrome (is_a)