{
    "disease_id": "DOID:0060545", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013559", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013559", 
            "name": "HPS7"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013559", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013559", 
            "name": "DTNBP1 Hermansky-Pudlak syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013559", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013559", 
            "name": "Hermansky-Pudlak syndrome caused by mutation in DTNBP1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013559", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013559", 
            "name": "Hermansky-Pudlak syndrome type 7"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013559", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013559", 
            "name": "Hermansky-Pudlak syndrome 7; HPS7"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0060545", 
        "description": "A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the DTNBP1 gene on chromosome 6p22.3.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0060545", 
        "name": "Hermansky-Pudlak syndrome 7"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0060545#disease-associations", 
            "id": "0060545", 
            "database": "Alliance of Genome Resources"
        }
    ]
}