{
    "disease_id": "DOID:0111732",
    "recommended_name": {
        "id": "DOID:0111732",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111732",
        "name": "Eiken syndrome",
        "description": "A bone development disease characterized by severely delayed ossification primarily of the epiphyses, pelvis, hands, and feet and abnormal bone modeling of the hands and feet that has_material_basis_in homozygous or compound heterozygous mutation in PTHR1 on chromosome 3p21.31."
    },
    "synonyms": [
        {
            "id": "DOID:0111732",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111732",
            "name": "Eiken skeletal dysplasia",
            "description": ""
        },
        {
            "id": "DOID:0111732",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111732",
            "name": "bone modeling defect of hands and feet",
            "description": ""
        },
        {
            "id": "MONDO:0010803",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010803",
            "name": "Eiken syndrome",
            "description": "Eiken syndrome is a rare familial skeletal dysplasia characterized by multiple epiphyseal dysplasia, with extremely retarded ossification. It has been described in 6 members of a unique consanguineous family."
        },
        {
            "id": "MONDO:0010803",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010803",
            "name": "Eiken syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010803",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010803",
            "name": "Eiken skeletal dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0010803",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010803",
            "name": "bone modeling defect of hands and feet",
            "description": ""
        },
        {
            "id": "MIM:600002",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/600002",
            "name": "Eiken syndrome",
            "description": "Eiken syndrome"
        }
    ]
}