Search Ontology:
Human Disease
immunodeficiency 42
- Term ID
- DOID:0111940
- Synonyms
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- autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
- autosomal recessive MSMD due to complete RORgamma receptor defiency
- autosomal recessive primary immunodeficiency due to RORC mutation
- IMD42
- Definition
- A primary immunodeficiency disease characterized by onset in infancy of increased susceptibility to mycobacterial and candidal infections that has_material_basis_in homozygous or compound heterozygous mutation in the RORC gene on chromosome 1q21.3. https://pubmed.ncbi.nlm.nih.gov/26160376/
- References
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- MIM:616622
- ORDO:477857
- Ontology
- Human Disease ( DOID:0111940 )
- is a type of
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Genes Involved
Zebrafish Models