{
    "disease_id": "DOID:0050463",
    "recommended_name": {
        "id": "DOID:0050463",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0050463",
        "name": "campomelic dysplasia",
        "description": "An osteochondrodysplasia that has_material_basis_in a mutation in chromosome 17 which results_in bowing in the located_in tibia or located_in femur."
    },
    "synonyms": [
        {
            "id": "DOID:0050463",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0050463",
            "name": "Acampomelic Campomelic Dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0007251",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007251",
            "name": "campomelic dysplasia",
            "description": "Campomelic dysplasia is a very rare disorder characterised by a variable association of skeletal abnormalities (bowed and fragile long bones, pelvis and chest abnormalities, eleven rib pairs instead of the usual twelve), and extraskeletal abnormalities (facial dysmorphology, cleft palate, sexual ambiguity or sex reversal in two thirds of the affected boys, and brain, heart and kidney malformations)."
        },
        {
            "id": "MONDO:0007251",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007251",
            "name": "CMD",
            "description": ""
        },
        {
            "id": "MONDO:0007251",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007251",
            "name": "Cmpd",
            "description": ""
        },
        {
            "id": "MONDO:0007251",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007251",
            "name": "Cmpd1/Sra1",
            "description": ""
        },
        {
            "id": "MONDO:0007251",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007251",
            "name": "campomelic dwarfism",
            "description": ""
        },
        {
            "id": "MONDO:0007251",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007251",
            "name": "campomelic dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0007251",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007251",
            "name": "campomelic dysplasia with autosomal Sex reversal",
            "description": ""
        },
        {
            "id": "MONDO:0007251",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007251",
            "name": "CMPD1",
            "description": ""
        },
        {
            "id": "MONDO:0007251",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007251",
            "name": "acampomelic campomelic dysplasia with autosomal Sex reversal",
            "description": ""
        },
        {
            "id": "MONDO:0007251",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007251",
            "name": "Cmd1",
            "description": ""
        },
        {
            "id": "MONDO:0007251",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007251",
            "name": "camptomelic dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0007251",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007251",
            "name": "acampomelic campomelic dysplasia",
            "description": ""
        },
        {
            "id": "MIM:114290",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/114290",
            "name": "Campomelic dysplasia",
            "description": "Campomelic dysplasia"
        }
    ]
}