{
    "disease_id": "DOID:0111044",
    "recommended_name": {
        "id": "DOID:0111044",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111044",
        "name": "gray platelet syndrome",
        "description": "A blood platelet disease characterized by selective deficiency in the number and contents of platelet alpha-granules, macrothrombocytopenia, enlarged platelets, myelofibrosis, splenomegaly, and increased bleeding time that has_material_basis_in homozygous or compound heterozygous mutation in the NBEAL2 gene on chromosome 3p21."
    },
    "synonyms": [
        {
            "id": "DOID:0111044",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111044",
            "name": "BDPLT4",
            "description": ""
        },
        {
            "id": "DOID:0111044",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111044",
            "name": "GPS",
            "description": ""
        },
        {
            "id": "DOID:0111044",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111044",
            "name": "platelet alpha-granule deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111044",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111044",
            "name": "platelet-type bleeding disorder 4",
            "description": ""
        },
        {
            "id": "MONDO:0007686",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007686",
            "name": "gray platelet syndrome",
            "description": "Gray platelet syndrome (GPS) is a rare inherited bleeding disorder characterized by macrothrombocytopenia, myelofibrosis, splenomegaly and typical gray appearance of platelets on Wright stained peripheral blood smear."
        },
        {
            "id": "MONDO:0007686",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007686",
            "name": "Alpha storage pool deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0007686",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007686",
            "name": "BDPLT4",
            "description": ""
        },
        {
            "id": "MONDO:0007686",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007686",
            "name": "GPS",
            "description": ""
        },
        {
            "id": "MONDO:0007686",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007686",
            "name": "gray platelet syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007686",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007686",
            "name": "platelet alpha-granule deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0007686",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007686",
            "name": "marked decrease or absence of alpha-granules and of platelet-specific alpha-granule proteins",
            "description": ""
        },
        {
            "id": "MIM:139090",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/139090",
            "name": "Gray platelet syndrome",
            "description": "Gray platelet syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111044"
    ],
    "unlinked_id_list": []
}