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