{
    "disease_id": "DOID:0081271",
    "recommended_name": {
        "id": "DOID:0081271",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081271",
        "name": "Smith-McCort dysplasia 2",
        "description": "A Smith-McCort dysplasia that is characterized by short trunk dwarfism with a barrel-shaped chest, rhizomelic limb shortening and that has_material_basis_in homozygous or compound heterozygous mutation in the RAB33B gene on chromosome 4q31."
    },
    "synonyms": [
        {
            "id": "MONDO:0014087",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014087",
            "name": "Smith-McCort dysplasia 2",
            "description": "Any Smith-McCort dysplasia in which the cause of the disease is a mutation in the RAB33B gene."
        },
        {
            "id": "MONDO:0014087",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014087",
            "name": "RAB33B Smith-McCort dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0014087",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014087",
            "name": "Smith-McCort dysplasia 2",
            "description": ""
        },
        {
            "id": "MONDO:0014087",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014087",
            "name": "Smith-McCort dysplasia caused by mutation in RAB33B",
            "description": ""
        },
        {
            "id": "MONDO:0014087",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014087",
            "name": "Smith-McCort dysplasia type 2",
            "description": ""
        },
        {
            "id": "MONDO:0014087",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014087",
            "name": "Smc2",
            "description": ""
        },
        {
            "id": "MIM:615222",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615222",
            "name": "Smith-McCort dysplasia 2",
            "description": "Smith-McCort dysplasia 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081271"
    ],
    "unlinked_id_list": []
}