{
    "disease_id": "DOID:0070316",
    "recommended_name": {
        "id": "DOID:0070316",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070316",
        "name": "Miura type epiphyseal chondrodysplasia",
        "description": "A bone developmental disease characterized by tall stature, scoliosis and macrodactyly of the great toes that has_material_basis_in heterozygous mutation in the NPR2 gene on chromosome 9p13."
    },
    "synonyms": [
        {
            "id": "DOID:0070316",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070316",
            "name": "ECDM",
            "description": ""
        },
        {
            "id": "DOID:0070316",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070316",
            "name": "tall stature-scoliosis-macrodactyly of the halluces syndrome",
            "description": ""
        },
        {
            "id": "DOID:0070316",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070316",
            "name": "tall stature-scoliosis-macrodactyly of the great toes syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014401",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014401",
            "name": "tall stature-scoliosis-macrodactyly of the great toes syndrome",
            "description": "Tall stature-scoliosis-macrodactyly of the great toes syndrome is a rare, genetic, overgrowth or tall stature syndrome with skeletal involvement characterized by early and proportional overgrowth, osteopenia, lumbar scoliosis, arachnodactyly of the hands and feet, macrodactyly of the hallux, coxa valga with epiphyseal dysplasia of the femoral capital epiphyses and susceptibility to slipped capital femoral epiphysis."
        },
        {
            "id": "MONDO:0014401",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014401",
            "name": "tall stature-scoliosis-macrodactyly of the halluces syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014401",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014401",
            "name": "ECDM",
            "description": ""
        },
        {
            "id": "MONDO:0014401",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014401",
            "name": "epiphyseal chondrodysplasia, MIURA type",
            "description": ""
        },
        {
            "id": "MIM:615923",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615923",
            "name": "Epiphyseal chondrodysplasia, Miura type",
            "description": "Epiphyseal chondrodysplasia, Miura type"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070316"
    ],
    "unlinked_id_list": []
}