immunodeficiency 13
Information
- Disease name
- immunodeficiency 13
- Disease ID
- DOID:0111987
- Description
- "A T cell deficiency characterized by decreased CD4 T-lymphocyte counts that has_material_basis_in heterozygous mutation in the UNC119 gene on chromosome 17q11.2." [url:https\://pubmed.ncbi.nlm.nih.gov/22184408/]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:11200
- Cross Reference ID (Disease Ontology)
- GARD:12375
- Cross Reference ID (Disease Ontology)
- MIM:615518
- Cross Reference ID (Disease Ontology)
- ORDO:228000
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C3809768
- Exact Synonym (Disease Ontology)
- ICL
- Exact Synonym (Disease Ontology)
- idiopathic CD4 lymphopenia
- Exact Synonym (Disease Ontology)
- IMD13