{
    "disease_id": "DOID:0111967",
    "recommended_name": {
        "id": "DOID:0111967",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111967",
        "name": "immunodeficiency 54",
        "description": "A NK cell deficiency characterized by severe intra- and extrauterine growth retardation, microcephaly, decreased numbers of CD56(dim) natural killer cells, adrenal insufficiency, and recurrent viral infections that has_material_basis_in homozygous or compound heterozygous mutation in the MCM4 gene on chromosome 8q11.21."
    },
    "synonyms": [
        {
            "id": "DOID:0111967",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111967",
            "name": "primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency",
            "description": ""
        },
        {
            "id": "DOID:0111967",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111967",
            "name": "IMD54",
            "description": ""
        },
        {
            "id": "DOID:0111967",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111967",
            "name": "NKCD",
            "description": ""
        },
        {
            "id": "DOID:0111967",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111967",
            "name": "familial isolated natural killer cell deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111967",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111967",
            "name": "primary immunodeficiency due to MCM4 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012383",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012383",
            "name": "primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency",
            "description": "The primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency is characterized by a specific natural-killer (NK) cell deficiency and susceptibility to viral diseases. It has been described in four children from a large inbred kindred. Three out of the four children reported developed a viral illness. The mode of transmission is most likely autosomal recessive. The causative gene has been localized to within a 12-Mb region on chromosome 8p11.23-q11.21."
        },
        {
            "id": "MONDO:0012383",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012383",
            "name": "mini-chromosome maintenance 4",
            "description": ""
        },
        {
            "id": "MONDO:0012383",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012383",
            "name": "primary immunodeficiency due to MCM4 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012383",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012383",
            "name": "IMD54",
            "description": ""
        },
        {
            "id": "MONDO:0012383",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012383",
            "name": "NKGCD",
            "description": ""
        },
        {
            "id": "MONDO:0012383",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012383",
            "name": "natural KILLER cell and glucocorticoid deficiency with DNA repair defect",
            "description": ""
        },
        {
            "id": "MIM:609981",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/609981",
            "name": "Immunodeficiency 54",
            "description": "Immunodeficiency 54"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111967"
    ],
    "unlinked_id_list": []
}