| Metadata | |
|---|---|
| ID | DOID:0061096 |
| Name | immunodeficiency 133 |
| Definition | A primary immunodeficiency disease that is characterized immunodeficiency manifest as combined immunodeficiency (CID) or common variable immunodeficiency (CVID) and features of ectodermal dysplasia, notably dysmorphic conical incisors and sparse hair, and that has_material_basis_in heterozygous mutation in the ITPR3 gene on chromosome 6p21. https://pubmed.ncbi.nlm.nih.gov/39560673/ |
| Xrefs | |
| Synonyms |
immunodeficiency 133 with autoimmunity and autoinflammation [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |