immunodeficiency-centromeric instability-facial anomalies syndrome 1

Summary

DOID:0090008 - immunodeficiency-centromeric instability-facial anomalies syndrome 1

Disease Ontology Definition:An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, facial dysmorphism and immunoglobulin deficiency of lymphocytes that has_material_basis_in homozygous or compound heterozygous mutation in the DNMT3B gene on chromosome 20q11.2.

Synonyms: ICF syndrome 1,

Echinobase 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

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)