{
    "disease_id": "DOID:0060833",
    "recommended_name": {
        "id": "DOID:0060833",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0060833",
        "name": "Griscelli syndrome type 2",
        "description": "A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and immunodeficiency with or without neurologic impairment that has_material_basis_in mutation in the RAB27A gene on chromosome 15q21.3."
    },
    "synonyms": [
        {
            "id": "DOID:0060833",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060833",
            "name": "GS2",
            "description": ""
        },
        {
            "id": "DOID:0060833",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060833",
            "name": "Griscelli syndrome with hemophagocytic syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060833",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060833",
            "name": "Griscelli-Prunieras syndrome type 2",
            "description": ""
        },
        {
            "id": "DOID:0060833",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060833",
            "name": "PAID syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060833",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060833",
            "name": "partial albinism and immunodeficiency syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060833",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060833",
            "name": "hypopigmentation-immunodeficiency with or without neurologic impairment syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011872",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011872",
            "name": "Griscelli syndrome type 2",
            "description": "Griscelli syndrome type 2 (GS2) is a rare, inherited condition that affects the skin, hair, and immune system. People with GS2 have unusually light skin and silver-colored hair. They are also prone to recurrent infections and develop an immune condition called hemophagocytic lymphohistiocytosis (HLH). HLH can damage organs and tissues throughout the body, causing life-threatening complications. GS2 is caused by changes ( mutations ) in the RAB27A gene and is inherited in an autosomal recessive manner. The only current treatment that can extend survival is stem cell transplantation (a bone marrow transplant). Untreated, most children with GS2 do not survive past early childhood."
        },
        {
            "id": "MONDO:0011872",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011872",
            "name": "Griscelli-Pruniras syndrome type 2",
            "description": ""
        },
        {
            "id": "MONDO:0011872",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011872",
            "name": "Griscelli syndrome, type 2",
            "description": ""
        },
        {
            "id": "MONDO:0011872",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011872",
            "name": "GS2",
            "description": ""
        },
        {
            "id": "MONDO:0011872",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011872",
            "name": "Paid syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011872",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011872",
            "name": "hypopigmentation-immunodeficiency with or without neurologic impairment syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011872",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011872",
            "name": "PAID syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011872",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011872",
            "name": "Griscelli syndrome, type 2; GS2",
            "description": ""
        },
        {
            "id": "MONDO:0011872",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011872",
            "name": "Griscelli disease type 2",
            "description": ""
        },
        {
            "id": "MONDO:0011872",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011872",
            "name": "partial albinism and immunodeficiency syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011872",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011872",
            "name": "Griscelli syndrome with hemophagocytic syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011872",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011872",
            "name": "Griscelli-PruniC)ras syndrome type 2",
            "description": ""
        },
        {
            "id": "MIM:607624",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/607624",
            "name": "Griscelli syndrome 2",
            "description": "Griscelli syndrome 2"
        }
    ]
}