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Disease Ontology Browser
ICHAD syndrome (DOID:0070796)
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Synonyms: ICHAD; immunodysregulation, craniofacial anomalies, hearing impairment, athelia, and developmental delay
Alt IDs: OMIM:621234, ORDO:699599, UMLS_CUI:C6012290
Definition: An immune system disease characterized by onset of immunodysregulation, craniofacial anomalies, hearing impairment, athelia, and developmental delay soon after birth or in early infancy that has_material_basis_in heterozygous gain-of-function mutation in the IKZF2 gene on chromosome 2q34. Affected individuals have recurrent, mainly respiratory, infections and may have autoimmune features.

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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07/14/2026
MGI 6.24 		The Jackson Laboratory