{
    "disease_id": "DOID:0060438",
    "recommended_name": {
        "id": "DOID:0060438",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0060438",
        "name": "Cole-Carpenter syndrome",
        "description": "An osteogenesis imperfecta characterized by craniosynostosis, communicating hydrocephalus, ocular proptosis, marked postnatal growth failure, and distinctive facial appearance."
    },
    "synonyms": [
        {
            "id": "MONDO:0014573",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014573",
            "name": "Cole-Carpenter syndrome 2",
            "description": "Any Cole-Carpenter syndrome in which the cause of the disease is a mutation in the SEC24D gene."
        },
        {
            "id": "MONDO:0014573",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014573",
            "name": "Cole-Carpenter syndrome caused by mutation in SEC24D",
            "description": ""
        },
        {
            "id": "MONDO:0014573",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014573",
            "name": "SEC24D Cole-Carpenter syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014573",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014573",
            "name": "Cole-Carpenter syndrome type 2",
            "description": ""
        },
        {
            "id": "MONDO:0014573",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014573",
            "name": "CLCRP2",
            "description": ""
        },
        {
            "id": "MONDO:0014573",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014573",
            "name": "Cole-Carpenter syndrome 2",
            "description": ""
        },
        {
            "id": "MONDO:0014573",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014573",
            "name": "COLE-CARPENTER syndrome 2; CLCRP2",
            "description": ""
        },
        {
            "id": "MONDO:0007204",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007204",
            "name": "Cole-Carpenter syndrome 1",
            "description": "Any Cole-Carpenter syndrome in which the cause of the disease is a mutation in the P4HB gene."
        },
        {
            "id": "MONDO:0007204",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007204",
            "name": "CLCRP1",
            "description": ""
        },
        {
            "id": "MONDO:0007204",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007204",
            "name": "Cole-Carpenter syndrome caused by mutation in P4HB",
            "description": ""
        },
        {
            "id": "MONDO:0007204",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007204",
            "name": "bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive Facial features",
            "description": ""
        },
        {
            "id": "MONDO:0007204",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007204",
            "name": "P4HB Cole-Carpenter syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007204",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007204",
            "name": "Cole-Carpenter syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0007204",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007204",
            "name": "COLE-CARPENTER syndrome 1; CLCRP1",
            "description": ""
        },
        {
            "id": "MONDO:0007204",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007204",
            "name": "Cole-Carpenter syndrome type 1",
            "description": ""
        },
        {
            "id": "MIM:616294",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616294",
            "name": "Cole-Carpenter syndrome 2",
            "description": "Cole-Carpenter syndrome 2"
        },
        {
            "id": "MIM:112240",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/112240",
            "name": "Cole-Carpenter syndrome 1",
            "description": "Cole-Carpenter syndrome 1"
        }
    ]
}