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"id": "DOID:0111940" }, { "url": "http://disease-ontology.org/term/DOID:0111940", "resource": "Disease Ontology", "description": "", "name": "IMD42", "id": "DOID:0111940" }, { "url": "http://disease-ontology.org/term/DOID:0111940", "resource": "Disease Ontology", "description": "", "name": "autosomal recessive MSMD due to complete RORgamma receptor defiency", "id": "DOID:0111940" }, { "url": "https://monarchinitiative.org/disease/MONDO:0014710", "resource": "MONDO", "description": "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.", "name": "autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency", "id": "MONDO:0014710" }, { "url": "https://monarchinitiative.org/disease/MONDO:0014710", "resource": "MONDO", "description": "", "name": "RORC autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency", "id": "MONDO:0014710" }, { "url": "https://monarchinitiative.org/disease/MONDO:0014710", "resource": "MONDO", "description": "", "name": "autosomal recessive MSMD due to complete RORgamma receptor defiency", "id": "MONDO:0014710" }, { "url": "https://monarchinitiative.org/disease/MONDO:0014710", "resource": "MONDO", "description": "", "name": "IMD42", "id": "MONDO:0014710" }, { "url": "https://monarchinitiative.org/disease/MONDO:0014710", "resource": "MONDO", "description": "", "name": "immunodeficiency 42", "id": "MONDO:0014710" }, { "url": "https://monarchinitiative.org/disease/MONDO:0014710", "resource": "MONDO", "description": "", "name": "immunodeficiency type 42", "id": "MONDO:0014710" }, { "url": "https://monarchinitiative.org/disease/MONDO:0014710", "resource": "MONDO", "description": "", "name": "autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in RORC", "id": "MONDO:0014710" }, { "url": "https://monarchinitiative.org/disease/MONDO:0014710", "resource": "MONDO", "description": "", "name": "autosomal recessive primary immunodeficiency due to RORC mutation", "id": "MONDO:0014710" }, { "url": "https://monarchinitiative.org/disease/MONDO:0014710", "resource": "MONDO", "description": "", "name": "immunodeficiency 42; IMD42", "id": "MONDO:0014710" }, { "url": "https://www.omim.org/entry/616622", "resource": "MIM", "description": "Immunodeficiency 42", "name": "Immunodeficiency 42", "id": "MIM:616622" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:0111940", "resource": "Disease Ontology", "description": "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 RORC on chromosome 1q21.3.", "name": "immunodeficiency 42", "id": "DOID:0111940" }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/0111940#disease-associations", "id": "0111940", "database": "Alliance of Genome Resources" } ] }, { "disease_id": "DOID:12894", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:12894", "resource": "Disease Ontology", "description": "", "name": "Sicca syndrome", "id": "DOID:12894" }, { "url": "http://disease-ontology.org/term/DOID:12894", "resource": "Disease Ontology", "description": "", "name": "xerodermosteosis", "id": "DOID:12894" }, { "url": "http://disease-ontology.org/term/DOID:12894", "resource": "Disease Ontology", "description": "", "name": "Sjogren syndrome", "id": "DOID:12894" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010030", "resource": "MONDO", "description": "an autoimmune disorder in which immune cells attack and destroy the glands that produce tears and saliva. Sjgren syndrome is also associated with rheumatic disorders such as rheumatoid arthritis or systemic lupus erythematosus. The hallmark symptoms of Sjgren syndrome are dry mouth and dry eyes. In addition, Sjogren syndrome may cause skin, nose, and vaginal dryness. It also may affect other organs of the body including the kidneys, blood vessels, lungs, liver, pancreas, and brain", "name": "Sjogren syndrome", "id": "MONDO:0010030" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010030", "resource": "MONDO", "description": "", "name": "sicca syndrome", "id": "MONDO:0010030" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010030", "resource": "MONDO", "description": "", "name": "Sjogren syndrome", "id": "MONDO:0010030" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010030", "resource": "MONDO", "description": "", "name": "primary Sjgren-Gougerot syndrome", "id": "MONDO:0010030" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010030", "resource": "MONDO", "description": "", "name": "Sjogren's syndrome", "id": "MONDO:0010030" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010030", "resource": "MONDO", "description": "", "name": "primary Sjogren-Gougerot syndrome", "id": "MONDO:0010030" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010030", "resource": "MONDO", "description": "", "name": "primary Sjgren syndrome", "id": "MONDO:0010030" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010030", "resource": "MONDO", "description": "", "name": "syndrome, Sjogren's", "id": "MONDO:0010030" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010030", "resource": "MONDO", "description": "", "name": "xerodermosteosis", "id": "MONDO:0010030" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010030", "resource": "MONDO", "description": "", "name": "Sjgren syndrome", "id": "MONDO:0010030" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:12894", "resource": "Disease Ontology", "description": "An autoimmune disease that involves attack of immune cells which destroy the exocrine glands that produce tears and saliva.", "name": "Sjogren's syndrome", "id": "DOID:12894" }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/12894#disease-associations", "id": "12894", "database": "Alliance of Genome Resources" } ] } ], "phosphorylation": [], "mass": { "monoisotopic_mass": 54684.0, "chemical_mass": 54684.0 }, "expression_tissue": [], "gene": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2QC01", "name": "Rorc", "locus": { "end_pos": 195637630, "strand": "+", "start_pos": 195617021, "chromosome": "2", "evidence": [ { "url": "https://www.ensembl.org/id/ENSRNOG00000020836", "id": "ENSRNOG00000020836", "database": "Ensembl Gene" } ] } } ], "protein_names": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2QC01#names_and_taxonomy", "type": "synonym", "resource": "UniProtKB", "name": "RAR-related orphan receptor C" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A0A0G2QC01", "type": "synonym", "resource": "RefSeq", "name": "nuclear receptor ROR-gamma isoform X2" } ] }