{
    "disease_id": "DOID:0070113", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009757", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009757", 
            "name": "Niemann-Pick disease, type C1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009757", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009757", 
            "name": "Niemann-Pick disease with cholesterol esterification block"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009757", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009757", 
            "name": "Niemann-Pick disease, type D"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009757", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009757", 
            "name": "Niemann-Pick disease, nova Scotian type"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009757", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009757", 
            "name": "Niemann-Pick disease, type C"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009757", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009757", 
            "name": "NPC1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009757", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009757", 
            "name": "Niemann-Pick disease without sphingomyelinase deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009757", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009757", 
            "name": "Niemann-Pick disease, subacute juvenile form"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009757", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009757", 
            "name": "neurovisceral storage disease with vertical supranuclear ophthalmoplegia"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009757", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009757", 
            "name": "Niemann-PICK disease, type C1; NPC1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009757", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009757", 
            "name": "type C1 Niemann-Pick disease"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009757", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009757", 
            "name": "Niemann-Pick disease, chronic neuronopathic form"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0070113", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0070113", 
            "name": "NPC1"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0070113", 
        "description": "A Niemann-Pick disease that has_material_basis_in an autosomal recessive mutation of NPC1 on chromosome 18q11.2.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0070113", 
        "name": "Niemann-Pick disease type C1"
    }, 
    "evidence": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009757", 
            "id": "0009757", 
            "database": "MONDO"
        }, 
        {
            "url": "https://www.omim.org/entry/257220", 
            "id": "257220", 
            "database": "MIM"
        }
    ]
}