{
    "disease_id": "DOID:0060832",
    "recommended_name": {
        "id": "DOID:0060832",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0060832",
        "name": "Griscelli syndrome type 1",
        "description": "A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and neurological impairment without immunodeficiency that has_material_basis_in mutations in the MYO5A gene on chromosome 15q21.2."
    },
    "synonyms": [
        {
            "id": "DOID:0060832",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060832",
            "name": "GS1",
            "description": ""
        },
        {
            "id": "DOID:0060832",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060832",
            "name": "Griscelli syndrome with neurological impairment",
            "description": ""
        },
        {
            "id": "DOID:0060832",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060832",
            "name": "Griscelli-Prunieras syndrome type 1",
            "description": ""
        },
        {
            "id": "DOID:0060832",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060832",
            "name": "Griscelli syndrome, cutaneous and neurological type",
            "description": ""
        },
        {
            "id": "DOID:0060832",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060832",
            "name": "hypopigmentation-neurologic impairment syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008962",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008962",
            "name": "Griscelli syndrome type 1",
            "description": "A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and neurological impairment without immunodeficiency that has_material_basis_in mutations in the MYO5A gene on chromosome 15q21.2."
        },
        {
            "id": "MONDO:0008962",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008962",
            "name": "Griscelli-PruniC)ras syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0008962",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008962",
            "name": "GS1",
            "description": ""
        },
        {
            "id": "MONDO:0008962",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008962",
            "name": "Griscelli syndrome, type 1",
            "description": ""
        },
        {
            "id": "MONDO:0008962",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008962",
            "name": "hypopigmentation-neurologic impairment syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008962",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008962",
            "name": "pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts",
            "description": ""
        },
        {
            "id": "MONDO:0008962",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008962",
            "name": "Griscelli-Pruniras syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0008962",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008962",
            "name": "Griscelli syndrome, cutaneous and neurological type",
            "description": ""
        },
        {
            "id": "MONDO:0008962",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008962",
            "name": "Griscelli syndrome with neurological impairment",
            "description": ""
        },
        {
            "id": "MONDO:0008962",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008962",
            "name": "partial albinism and primary neurologic disease without hemophagocytic syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008962",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008962",
            "name": "Griscelli syndrome, cutaneous and neurologic type",
            "description": ""
        },
        {
            "id": "MONDO:0008962",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008962",
            "name": "Griscelli syndrome, type 1; GS1",
            "description": ""
        },
        {
            "id": "MONDO:0008962",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008962",
            "name": "Griscelli disease type 1",
            "description": ""
        },
        {
            "id": "MONDO:0008962",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008962",
            "name": "Griscelli syndrome with neurologic impairment",
            "description": ""
        },
        {
            "id": "MIM:214450",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/214450",
            "name": "Griscelli syndrome 1",
            "description": "Griscelli syndrome 1"
        }
    ]
}