{
    "disease_id": "DOID:2935", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008963", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008963", 
            "name": "Chdiak-Higashi-Steinbrink syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008963", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008963", 
            "name": "Chediak Higashi syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008963", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008963", 
            "name": "Chediak-Higashi syndrome; CHS"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008963", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008963", 
            "name": "ChC)diak-Higashi disease"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008963", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008963", 
            "name": "CHS"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008963", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008963", 
            "name": "Chdiak-Higashi syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008963", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008963", 
            "name": "ChC)diak-Higashi-Steinbrink syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008963", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008963", 
            "name": "Chdiak-Higashi disease"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008963", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008963", 
            "name": "Chediak - Steinbrinck anomaly"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:2935", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:2935", 
            "name": "CHS"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:2935", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:2935", 
            "name": "Chediak - Steinbrinck anomaly"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:2935", 
        "description": "A syndrome characterized by oculocutaneous albinism, immune deficiency, coagulation deficiency and neuropathy; it is that has_material_basis_in mutations in the CHS1 gene.", 
        "resource": "Disease Ontology", 
        "id": "DOID:2935", 
        "name": "Chediak-Higashi syndrome"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/2935#disease-associations", 
            "id": "2935", 
            "database": "Alliance of Genome Resources"
        }
    ]
}