{
    "disease_id": "DOID:0050813",
    "recommended_name": {
        "id": "DOID:0050813",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0050813",
        "name": "spondyloepiphyseal dysplasia with congenital joint dislocations",
        "description": "A spondyloepimetaphyseal dysplasia that is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), club feet, and limitation of range of motion that can involve all large joints."
    },
    "synonyms": [
        {
            "id": "DOID:0050813",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0050813",
            "name": "Humero-spinal dysostosis with congenital heart disease",
            "description": ""
        },
        {
            "id": "DOID:0050813",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0050813",
            "name": "CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS",
            "description": ""
        },
        {
            "id": "DOID:0050813",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0050813",
            "name": "CHST3-Related Skeletal Dysplasia",
            "description": ""
        },
        {
            "id": "DOID:0050813",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0050813",
            "name": "Humerospinal Dysostosis",
            "description": ""
        },
        {
            "id": "DOID:0050813",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0050813",
            "name": "Humerospinal dysostosis",
            "description": ""
        },
        {
            "id": "DOID:0050813",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0050813",
            "name": "Kozlowski Celermajer Tink syndrome",
            "description": ""
        },
        {
            "id": "DOID:0050813",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0050813",
            "name": "Omani Type",
            "description": ""
        },
        {
            "id": "DOID:0050813",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0050813",
            "name": "Spondyloepiphyseal Dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0007738",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007738",
            "name": "spondyloepiphyseal dysplasia with congenital joint dislocations",
            "description": "CHST3-related skeletal dysplasia is a very rare bone disorder characterized clinically by short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis; and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal."
        },
        {
            "id": "MONDO:0007738",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007738",
            "name": "chondrodysplasia with multiple dislocations",
            "description": ""
        },
        {
            "id": "MONDO:0007738",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007738",
            "name": "spondyloepiphyseal dysplasia, Omani type",
            "description": ""
        },
        {
            "id": "MONDO:0007738",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007738",
            "name": "SDCD, CHST3 type",
            "description": ""
        },
        {
            "id": "MONDO:0007738",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007738",
            "name": "spondyloepiphyseal dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0007738",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007738",
            "name": "humero-spinal dysostosis with congenital heart disease",
            "description": ""
        },
        {
            "id": "MONDO:0007738",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007738",
            "name": "Kozlowski Celermajer tink syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007738",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007738",
            "name": "chondrodysplasia with congenital joint dislocations, CHST3 type",
            "description": ""
        },
        {
            "id": "MONDO:0007738",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007738",
            "name": "spondyloepiphyseal dysplasia with congenital joint dyslocations, CHST3 type",
            "description": ""
        },
        {
            "id": "MONDO:0007738",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007738",
            "name": "spondyloepiphyseal dysplasia with congenital joint dislocations",
            "description": ""
        },
        {
            "id": "MONDO:0007738",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007738",
            "name": "CHST3-related skeletal dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0007738",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007738",
            "name": "spondyloepiphyseal dysplasia with congenital JOINT dislocations; SEDCJD",
            "description": ""
        },
        {
            "id": "MONDO:0007738",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007738",
            "name": "Gollop Coates syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007738",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007738",
            "name": "SEDCJD",
            "description": ""
        },
        {
            "id": "MONDO:0007738",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007738",
            "name": "Omani type",
            "description": ""
        },
        {
            "id": "MONDO:0007738",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007738",
            "name": "Humerospinal dysostosis",
            "description": ""
        },
        {
            "id": "MONDO:0007738",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007738",
            "name": "bifurcation of distal humerus with oligoectro-syndactyly",
            "description": ""
        },
        {
            "id": "MIM:143095",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/143095",
            "name": "Spondyloepiphyseal dysplasia with congenital joint dislocations",
            "description": "Spondyloepiphyseal dysplasia with congenital joint dislocations"
        }
    ]
}