{
    "disease_id": "DOID:0111967", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012383", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012383", 
            "name": "primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012383", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012383", 
            "name": "natural KILLER cell and glucocorticoid deficiency with DNA repair defect"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012383", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012383", 
            "name": "immunodeficiency 54; IMD54"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012383", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012383", 
            "name": "mini-chromosome maintenance 4"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012383", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012383", 
            "name": "natural KILLER cell and glucocorticoid deficiency with DNA repair defect; NKGCD"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012383", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012383", 
            "name": "IMD54"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012383", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012383", 
            "name": "natural Killer cell deficiency, familial isolated"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012383", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012383", 
            "name": "NKGCD"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012383", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012383", 
            "name": "primary immunodeficiency due to MCM4 deficiency"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111967", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111967", 
            "name": "NKCD"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111967", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111967", 
            "name": "IMD54"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111967", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111967", 
            "name": "primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111967", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111967", 
            "name": "familial isolated natural killer cell deficiency"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111967", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111967", 
            "name": "primary immunodeficiency due to MCM4 deficiency"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0111967", 
        "description": "An 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 MCM4 on chromosome 8q11.21.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0111967", 
        "name": "immunodeficiency 54"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/609981", 
            "id": "609981", 
            "database": "MIM"
        }
    ]
}