{
    "disease_id": "DOID:5813", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013171", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013171", 
            "name": "PNP deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013171", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013171", 
            "name": "purine-nucleoside phosphorylase deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013171", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013171", 
            "name": "PNPase deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013171", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013171", 
            "name": "nucleoside phosphorylase deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013171", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013171", 
            "name": "deficiency of inosine phosphorylase"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:5813", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:5813", 
            "name": "PNP deficiency"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:5813", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:5813", 
            "name": "Purine-Nucleoside Phosphorylase deficiency"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:5813", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:5813", 
            "name": "deficiency of inosine phosphorylase"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:5813", 
        "description": "A combined T cell and B cell immunodeficiency that is a rare autosomal recessive metabolic disorder that has_material_basis_in mutation in the PNP gene and characterized mainly by decreased T-cell function.", 
        "resource": "Disease Ontology", 
        "id": "DOID:5813", 
        "name": "purine nucleoside phosphorylase deficiency"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/5813#disease-associations", 
            "id": "5813", 
            "database": "Alliance of Genome Resources"
        }
    ]
}