{
    "disease_id": "DOID:0061099",
    "recommended_name": {
        "id": "DOID:0061099",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061099",
        "name": "Carpenter syndrome 2",
        "description": "A Carpenter syndrome characterized by multisuture craniosynostosis and polysyndactyly of the hands and feet, in association with abnormal left-right patterning and other features, most commonly obesity, umbilical hernia, cryptorchidism, and congenital heart disease that has_material_basis_in homozygous or compound heterozygous mutation in the MEGF8 gene on chromosome 19q13."
    },
    "synonyms": [
        {
            "id": "MONDO:0013998",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013998",
            "name": "MEGF8-related Carpenter syndrome",
            "description": "Any Carpenter syndrome in which the cause of the disease is a mutation in the MEGF8 gene."
        },
        {
            "id": "MONDO:0013998",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013998",
            "name": "Carpenter syndrome 2",
            "description": ""
        },
        {
            "id": "MONDO:0013998",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013998",
            "name": "Carpenter syndrome caused by mutation in MEGF8",
            "description": ""
        },
        {
            "id": "MONDO:0013998",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013998",
            "name": "Carpenter syndrome type 2",
            "description": ""
        },
        {
            "id": "MONDO:0013998",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013998",
            "name": "MEGF8 Carpenter syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013998",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013998",
            "name": "CRPT2",
            "description": ""
        },
        {
            "id": "MIM:614976",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614976",
            "name": "Carpenter syndrome 2",
            "description": "Carpenter syndrome 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061099"
    ],
    "unlinked_id_list": []
}
