{
    "disease_id": "DOID:0111970",
    "recommended_name": {
        "id": "DOID:0111970",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111970",
        "name": "immunodeficiency 10",
        "description": "A T cell and NK cell immunodeficiency characterized by onset in childhood of recurrent infections due to defective T- and NK-cell function that has_material_basis_in homozygous or compound heterozygous mutation in STIM1 on chromosome 11p15.4."
    },
    "synonyms": [
        {
            "id": "DOID:0111970",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111970",
            "name": "IMD10",
            "description": ""
        },
        {
            "id": "DOID:0111970",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111970",
            "name": "STIM1 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111970",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111970",
            "name": "immune dysfunction with T-cell inactivation due to calcium entry defect 2",
            "description": ""
        },
        {
            "id": "DOID:0111970",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111970",
            "name": "CID due to STIM1 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111970",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111970",
            "name": "combined immunodeficiency due to STIM1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013008",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013008",
            "name": "combined immunodeficiency due to STIM1 deficiency",
            "description": "deficiency is a form of CID due to Calcium release activated Ca2+(CRAC) channel dysfunction (see this term) characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia."
        },
        {
            "id": "MONDO:0013008",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013008",
            "name": "immunodeficiency 10",
            "description": ""
        },
        {
            "id": "MONDO:0013008",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013008",
            "name": "Cid due to STIM1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013008",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013008",
            "name": "immunodeficiency 10; IMD10",
            "description": ""
        },
        {
            "id": "MONDO:0013008",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013008",
            "name": "STIM1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013008",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013008",
            "name": "immune dysfunction with T-cell inactivation due to calcium entry defect 2",
            "description": ""
        },
        {
            "id": "MONDO:0013008",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013008",
            "name": "IMD10",
            "description": ""
        },
        {
            "id": "MONDO:0013008",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013008",
            "name": "immunodeficiency type 10",
            "description": ""
        },
        {
            "id": "MIM:612783",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612783",
            "name": "Immunodeficiency 10",
            "description": "Immunodeficiency 10"
        }
    ]
}