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Nezelof syndrome
Summary
- Synonym
-
- Nezelof's syndrome
- T-cell immunodeficiency with thymic aplasia
- TIDTA
- thymic aplasia
- thymic dysplasia with normal immunoglobulins
- Definition
- A T cell deficiency that results from the disfunction or underdevelopment of the thymus.
- Super Class
- T cell deficiency autosomal recessive disease
External Links
- Disease Ontology
- DOID:2012
- Mondo Disease Ontology
- UMLS
- ORDO
- OMIM
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P00491 | Purine nucleoside phosphorylase | |
| P98153 | Integral membrane protein DGCR2/IDD | |
| Q13478 | Interleukin-18 receptor 1 |
