{
    "disease_id": "DOID:0111976",
    "recommended_name": {
        "id": "DOID:0111976",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111976",
        "name": "immunodeficiency 9",
        "description": "A T cell deficiency characterized by early onset of recurrent infections due to defective T-cell activation, ectodermal dysplasia, and congenital myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ORAI1 gene, which encodes a subunit of the plasma membrane calcium channel CRAC, on chromosome 12q24.31."
    },
    "synonyms": [
        {
            "id": "DOID:0111976",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111976",
            "name": "IMD9",
            "description": ""
        },
        {
            "id": "DOID:0111976",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111976",
            "name": "CID due to ORAI1 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111976",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111976",
            "name": "combined immunodeficiency due to ORAI1 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111976",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111976",
            "name": "immune dysfunction with T-cell inactivation due to calcium entry defect 1",
            "description": ""
        },
        {
            "id": "MONDO:0013007",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013007",
            "name": "combined immunodeficiency due to ORAI1 deficiency",
            "description": "A form of combined immunodeficiency due to Calcium release activated Ca2+ (CRAC) channel dysfunction characterized by recurrent infections, congenital myopathy, ectodermal dysplasia and anhydrosis."
        },
        {
            "id": "MONDO:0013007",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013007",
            "name": "CID due to ORAI1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013007",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013007",
            "name": "immunodeficiency type 9",
            "description": ""
        },
        {
            "id": "MONDO:0013007",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013007",
            "name": "IMD9",
            "description": ""
        },
        {
            "id": "MONDO:0013007",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013007",
            "name": "immune dysfunction with T-cell inactivation due to calcium entry defect 1",
            "description": ""
        },
        {
            "id": "MONDO:0013007",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013007",
            "name": "immunodeficiency 9",
            "description": ""
        },
        {
            "id": "MIM:612782",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612782",
            "name": "Immunodeficiency 9",
            "description": "Immunodeficiency 9"
        }
    ]
}