autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
Findings
No curated finding names autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency in which the cause of the disease is a mutation in the RORC gene.
Definition from the Mondo Disease Ontology (MONDO:0014710), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Childhood onset
HPO, annotations 2026-09-02
Features
7 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- BCGosisHPOHP:0020087
- 6 of 7 reported patients
- Recurrent oral thrushHPOHP:0009098
- 5 of 7 reported patients
- Recurrent cutaneous fungal infectionsHPOHP:0011370
- 3 of 7 reported patients
- HepatomegalyHPOHP:0002240
- 2 of 7 reported patients
- SplenomegalyHPOHP:0001744
- 2 of 7 reported patients
- Recurrent aphthous stomatitisHPOHP:0011107
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- RORCHGNC:10260
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
5 names
Resolves to: autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
- Also called
- autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in RORCIMD42immunodeficiency 42immunodeficiency type 42RORC autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency