{
    "disease_id": "DOID:0050648",
    "recommended_name": {
        "id": "DOID:0050648",
        "resource": "Disease Ontology",
        "url": "https://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:0007167",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007167",
            "name": "atelosteogenesis type I",
            "description": "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": "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: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:0007168",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007168",
            "name": "atelosteogenesis type III",
            "description": "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 3",
            "description": ""
        },
        {
            "id": "MONDO:0007168",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007168",
            "name": "atelosteogenesis, type III",
            "description": ""
        },
        {
            "id": "MONDO:0009727",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009727",
            "name": "atelosteogenesis type II",
            "description": "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": "AO2",
            "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": "atelosteogenesis type 2",
            "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": "neonatal osseous dysplasia type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009727",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009727",
            "name": "atelosteogenesis II",
            "description": ""
        },
        {
            "id": "MONDO:0009727",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009727",
            "name": "atelosteogenesis, type II",
            "description": ""
        },
        {
            "id": "MIM:108720",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/108720",
            "name": "Atelosteogenesis 1",
            "description": "Atelosteogenesis 1"
        },
        {
            "id": "MIM:108721",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/108721",
            "name": "Atelosteogenesis 3",
            "description": "Atelosteogenesis 3"
        },
        {
            "id": "MIM:256050",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/256050",
            "name": "Atelosteogenesis 2",
            "description": "Atelosteogenesis 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050648"
    ],
    "unlinked_id_list": []
}