{
    "disease_id": "DOID:0050648",
    "recommended_name": {
        "id": "DOID:0050648",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0050648",
        "name": "atelosteogenesis",
        "description": "An osteochondrodysplasia that is characterized by specific patterns of aplasia/hypoplasia of humeri, femora, spine in newborns."
    },
    "synonyms": [
        {
            "id": "MONDO:0007168",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007168",
            "name": "atelosteogenesis type III",
            "description": "Atelosteogenesis III (AOIII) is a skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings."
        },
        {
            "id": "MONDO:0007168",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007168",
            "name": "AO3",
            "description": ""
        },
        {
            "id": "MONDO:0007168",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007168",
            "name": "AOIII",
            "description": ""
        },
        {
            "id": "MONDO:0007168",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007168",
            "name": "atelosteogenesis, type III; AO3",
            "description": ""
        },
        {
            "id": "MONDO:0007168",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007168",
            "name": "atelosteogenesis type 3",
            "description": ""
        },
        {
            "id": "MONDO:0007168",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007168",
            "name": "Aoiii",
            "description": ""
        },
        {
            "id": "MONDO:0007168",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007168",
            "name": "atelosteogenesis, type 3",
            "description": ""
        },
        {
            "id": "MONDO:0007168",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007168",
            "name": "atelosteogenesis, type III",
            "description": ""
        },
        {
            "id": "MONDO:0007167",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007167",
            "name": "atelosteogenesis type I",
            "description": "Atelosteogenesis I is a perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings."
        },
        {
            "id": "MONDO:0007167",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007167",
            "name": "AO1",
            "description": ""
        },
        {
            "id": "MONDO:0007167",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007167",
            "name": "atelosteogenesis type 1",
            "description": ""
        },
        {
            "id": "MONDO:0007167",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007167",
            "name": "spondylohumerofemoral hypoplasia",
            "description": ""
        },
        {
            "id": "MONDO:0007167",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007167",
            "name": "atelosteogenesis, type I; AO1",
            "description": ""
        },
        {
            "id": "MONDO:0007167",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007167",
            "name": "spondylo-humero-femoral dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0007167",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007167",
            "name": "atelosteogenesis, type I",
            "description": ""
        },
        {
            "id": "MONDO:0007167",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007167",
            "name": "AOI",
            "description": ""
        },
        {
            "id": "MONDO:0007167",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007167",
            "name": "atelosteogenesis, type 1",
            "description": ""
        },
        {
            "id": "MONDO:0007167",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007167",
            "name": "giant cell chondrodysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0009727",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009727",
            "name": "atelosteogenesis type II",
            "description": "Atelosteogenesis II is a lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene."
        },
        {
            "id": "MONDO:0009727",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009727",
            "name": "De 50A Chapelle dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0009727",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009727",
            "name": "AOII",
            "description": ""
        },
        {
            "id": "MONDO:0009727",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009727",
            "name": "neonatal osseous dysplasia 1",
            "description": ""
        },
        {
            "id": "MONDO:0009727",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009727",
            "name": "neonatal osseous dysplasia type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009727",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009727",
            "name": "Aoii",
            "description": ""
        },
        {
            "id": "MONDO:0009727",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009727",
            "name": "AO2",
            "description": ""
        },
        {
            "id": "MONDO:0009727",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009727",
            "name": "atelosteogenesis, type 2",
            "description": ""
        },
        {
            "id": "MONDO:0009727",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009727",
            "name": "atelosteogenesis type 2",
            "description": ""
        },
        {
            "id": "MONDO:0009727",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009727",
            "name": "De la Chapelle dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0009727",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009727",
            "name": "atelosteogenesis, type II; AO2",
            "description": ""
        },
        {
            "id": "MONDO:0009727",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009727",
            "name": "atelosteogenesis, type II",
            "description": ""
        },
        {
            "id": "MONDO:0009727",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009727",
            "name": "atelosteogenesis II",
            "description": ""
        },
        {
            "id": "MIM:108721",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/108721",
            "name": "Atelosteogenesis 3",
            "description": "Atelosteogenesis 3"
        },
        {
            "id": "MIM:108720",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/108720",
            "name": "Atelosteogenesis 1",
            "description": "Atelosteogenesis 1"
        },
        {
            "id": "MIM:256050",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/256050",
            "name": "Atelosteogenesis 2",
            "description": "Atelosteogenesis 2"
        }
    ]
}