{
    "disease_id": "DOID:0060462",
    "recommended_name": {
        "id": "DOID:0060462",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060462",
        "name": "Desbuquois dysplasia",
        "description": "An osteochondrodysplasia characterized by short stature, joint laxity, scoliosis, and advanced carpal ossification with a delta phalanx."
    },
    "synonyms": [
        {
            "id": "DOID:0060462",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060462",
            "name": "Desbuquois syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060462",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060462",
            "name": "micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification",
            "description": ""
        },
        {
            "id": "MONDO:0009629",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009629",
            "name": "Desbuquois dysplasia 1",
            "description": "Any Desbuquois dysplasia in which the cause of the disease is a mutation in the CANT1 gene."
        },
        {
            "id": "MONDO:0009629",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009629",
            "name": "CANT1 Desbuquois dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0009629",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009629",
            "name": "Desbuquois dysplasia 1",
            "description": ""
        },
        {
            "id": "MONDO:0009629",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009629",
            "name": "Desbuquois dysplasia caused by mutation in CANT1",
            "description": ""
        },
        {
            "id": "MONDO:0009629",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009629",
            "name": "Desbuquois dysplasia type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009629",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009629",
            "name": "DBQD1",
            "description": ""
        },
        {
            "id": "MONDO:0014343",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014343",
            "name": "Desbuquois dysplasia 2",
            "description": "Any Desbuquois dysplasia in which the cause of the disease is a mutation in the XYLT1 gene."
        },
        {
            "id": "MONDO:0014343",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014343",
            "name": "Baratela-Scott syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014343",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014343",
            "name": "Desbuquois dysplasia 2",
            "description": ""
        },
        {
            "id": "MONDO:0014343",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014343",
            "name": "Desbuquois dysplasia caused by mutation in XYLT1",
            "description": ""
        },
        {
            "id": "MONDO:0014343",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014343",
            "name": "Desbuquois dysplasia type 2",
            "description": ""
        },
        {
            "id": "MONDO:0014343",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014343",
            "name": "XYLT1 Desbuquois dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0014343",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014343",
            "name": "DBQD2",
            "description": ""
        },
        {
            "id": "MIM:251450",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/251450",
            "name": "Desbuquois dysplasia 1",
            "description": "Desbuquois dysplasia 1"
        },
        {
            "id": "MIM:615777",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615777",
            "name": "Desbuquois dysplasia 2",
            "description": "Desbuquois dysplasia 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060462"
    ],
    "unlinked_id_list": []
}