{
    "disease_id": "DOID:0111946",
    "recommended_name": {
        "id": "DOID:0111946",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111946",
        "name": "immunodeficiency 31C",
        "description": "A primary immunodeficiency disease characterized by onset in infancy or childhood of chronic mucocutaneous candidiasis and increased IFNG activation that has_material_basis_in heterozygous gain of function mutation in STAT1 on chromosome 2q32.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111946",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111946",
            "name": "CANDF7",
            "description": ""
        },
        {
            "id": "DOID:0111946",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111946",
            "name": "IMD31C",
            "description": ""
        },
        {
            "id": "DOID:0111946",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111946",
            "name": "autosomal dominant chronic mucocutaneous familial candidiasis",
            "description": ""
        },
        {
            "id": "DOID:0111946",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111946",
            "name": "autosomal dominant immunodeficiency 31C",
            "description": ""
        },
        {
            "id": "DOID:0111946",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111946",
            "name": "familial candidiasis 7",
            "description": ""
        },
        {
            "id": "DOID:0111946",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111946",
            "name": "autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013599",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013599",
            "name": "autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome",
            "description": "Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome is an extremely rare, autosomal dominant immunological disorder characterized by variable enteropathy, endocrine disorders (e.g. type 1 diabetes mellitus, hypothyroidism), immune dysregulation with pulmonary and blood-borne bacterial infections, and fungal infections (chronic mucocutaneous candidiasis) developing in infancy. Other manifestations include short stature, eczema, hepatosplenomegaly, delayed puberty, and osteoporosis/osteopenia."
        },
        {
            "id": "MONDO:0013599",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013599",
            "name": "familial chronic mucocutaneous, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0013599",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013599",
            "name": "immunodeficiency type 31C",
            "description": ""
        },
        {
            "id": "MONDO:0013599",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013599",
            "name": "IMD31C",
            "description": ""
        },
        {
            "id": "MONDO:0013599",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013599",
            "name": "candidiasis familial, 7",
            "description": ""
        },
        {
            "id": "MONDO:0013599",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013599",
            "name": "candidiasis familial chronic mucocutaneous, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0013599",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013599",
            "name": "CANDF7",
            "description": ""
        },
        {
            "id": "MONDO:0013599",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013599",
            "name": "candidiasis, familial, 7",
            "description": ""
        },
        {
            "id": "MONDO:0013599",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013599",
            "name": "candidiasis, familial chronic mucocutaneous, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0013599",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013599",
            "name": "immunodeficiency 31C",
            "description": ""
        },
        {
            "id": "MONDO:0013599",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013599",
            "name": "immunodeficiency 31C; IMD31C",
            "description": ""
        },
        {
            "id": "MIM:614162",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614162",
            "name": "Immunodeficiency 31C",
            "description": "Immunodeficiency 31C"
        }
    ]
}