| Metadata | |
|---|---|
| ID | DOID:0070796 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070796 Copy |
| Name | ICHAD syndrome |
| 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. https://pubmed.ncbi.nlm.nih.gov/37316189/ |
| Xrefs | |
| SKOS |
exactMatch UMLS_CUI:C6012290 exactMatch ORDO:699599 exactMatch MIM:621234 |
| Subsets |
DO_rare_slim |
| Synonyms |
ICHAD [EXACT] immunodysregulation, craniofacial anomalies, hearing impairment, athelia, and developmental delay [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has phenotype some Absent nipple has material basis in some autosomal dominant inheritance |