immunodeficiency 51
Information
- Disease name
- immunodeficiency 51
- Disease ID
- DOID:0111996
- Description
- "A primary immunodeficiency disease characterized by onset of chronic mucocutaneous candidiasis in the first years of life and lack of cellular responses to stimulation with certain IL17 isoforms that has_material_basis_in homozygous or compound heterozygous mutation in the IL17RA gene on chromosome 22q11.1." [url:https\://pubmed.ncbi.nlm.nih.gov/27930337/]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:612
- Cross Reference ID (Disease Ontology)
- MIM:613953
- Exact Synonym (Disease Ontology)
- CANDF5
- Exact Synonym (Disease Ontology)
- familial candidiasis 5
- Exact Synonym (Disease Ontology)
- IMD51
- MedGen concept unique identifier (MedGen Concept name)
- C4310803
- MedGen unique identifier (MedGen Concept name)
- 934770