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DO Term : immunodeficiency-centromeric instability-facial anomalies syndrome 2 [DOID:0090009] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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:
  • OMIM:614069,
  • 614069,
  • ICF syndrome 2,
  • ICD10CM:D84.8
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents