{
    "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": "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": "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": "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"
        }
    ]
}