Phenotypes associated with the disease autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency (OMIM:616622):
- Recurrent oral thrush (HP:0009098): Chronic accumulation and overgrowth of the fungus Candida albicans on the mucous membranes of the mouth, generally manifested as associated with creamy white lesions on the tongue or inner cheeks, occasionally spreading to the gums, tonsils, palate or oropharynx. Evidence: PCS. Frequency: 5/7. (PMID:17564971)
- Recurrent cutaneous fungal infections (HP:0011370): Increased susceptibility to cutaneous fungal infections as manifested by recurrent episodes of cutaneous fungal infections. Evidence: PCS. Frequency: 3/7. (PMID:17564971)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 1/7. (PMID:17564971)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 6/7. (PMID:17564971)
- BCGosis (HP:0020087): Distant, or disseminated infection with Bacillus Calmette-Guerin (BCG) following vaccination associated with failure to contain thebacillus Calmette-Guerin (BCG) following vaccination leading to spread of BCG to many sites in the body. The tuberculosis vaccine BCG contains live attenuated Mycobacterium bovis. Evidence: PCS. Frequency: 6/7. (PMID:17564971)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: PCS. Frequency: 2/7. (PMID:17564971)
- Hypoplasia of the thymus (HP:0000778): Underdevelopment of the thymus. Evidence: PCS. (PMID:17564971)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:17564971)
- Recurrent aphthous stomatitis (HP:0011107): Recurrent episodes of ulceration of the oral mucosa, typically presenting as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border. Evidence: PCS. Frequency: 1/7. (PMID:17564971)
- Splenomegaly (HP:0001744): Abnormal increased size of the spleen. Evidence: PCS. Frequency: 2/7. (PMID:17564971)