{
    "disease_id": "DOID:0050463",
    "recommended_name": {
        "id": "DOID:0050463",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050463",
        "name": "campomelic dysplasia",
        "description": "An osteochondrodysplasia that has_material_basis_in heterozygous mutation in the SOX9 gene on chromosome 17q24 and that is characterized by congenital shortness and bowing of long tubular bones, especially in the lower extremities, as well as by hypoplastic scapulae, narrow iliac wings, and nonmineralized thoracic pedicles."
    },
    "synonyms": [
        {
            "id": "DOID:0050463",
            "resource": "Disease Ontology",
            "url": "https://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 characterized 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": "Campomelic Syndrome",
            "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": "acampomelic campomelic dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0007251",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007251",
            "name": "CMPD1",
            "description": ""
        },
        {
            "id": "MIM:114290",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/114290",
            "name": "Campomelic dysplasia",
            "description": "Campomelic dysplasia"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050463"
    ],
    "unlinked_id_list": []
}