Search Ontology:
Human Disease
immunodeficiency 133
- Term ID
- DOID:0061096
- Synonyms
-
- immunodeficiency 133 with autoimmunity and autoinflammation
- 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/
- References
- Ontology
- Human Disease ( DOID:0061096 )
Other Pages
Genes Involved
Zebrafish Models