{
    "disease_id": "DOID:0061051",
    "recommended_name": {
        "id": "DOID:0061051",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061051",
        "name": "immunodeficiency 80",
        "description": "A primary immunodeficiency disease that is characterized by variable manifestations and that has_material_basis_in compound heterozygous mutation in the MCM10 gene on chromosome 10p13."
    },
    "synonyms": [
        {
            "id": "DOID:0061051",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061051",
            "name": "immunodeficiency 80 with or without cautosomal recessive inheritancediomyopathy",
            "description": ""
        },
        {
            "id": "MONDO:0030266",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030266",
            "name": "immunodeficiency 80 with or without congenital cardiomyopathy",
            "description": "An autosomal recessive immunologic disorder with variable manifestations. One patient with infantile-onset of chronic cytomegalovirus (CMV) infection associated with severely decreased NK cells has been reported. Another family with 3 affected fetuses showing restrictive cardiomyopathy and hypoplasia of the spleen and thymus has also been reported."
        },
        {
            "id": "MONDO:0030266",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030266",
            "name": "IMD80",
            "description": ""
        },
        {
            "id": "MONDO:0030266",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030266",
            "name": "MCM10 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0030266",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030266",
            "name": "immunodeficiency 80 with or without cardiomyopathy",
            "description": ""
        },
        {
            "id": "MONDO:0030266",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030266",
            "name": "immunodeficiency 80 with or without congenital cardiomyopathy",
            "description": ""
        },
        {
            "id": "MONDO:0030266",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030266",
            "name": "immunodeficiency with or without congenital cardiomyopathy",
            "description": ""
        },
        {
            "id": "MIM:619313",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619313",
            "name": "Immunodeficiency 80 with or without congenital cardiomyopathy",
            "description": "Immunodeficiency 80 with or without congenital cardiomyopathy"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061051"
    ],
    "unlinked_id_list": []
}