{
    "disease_id": "DOID:0061098",
    "recommended_name": {
        "id": "DOID:0061098",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061098",
        "name": "Carpenter syndrome 1",
        "description": "A Carpenter syndrome that has_material_basis_in homozygous mutation in the RAB23 gene on chromosome 6p11."
    },
    "synonyms": [
        {
            "id": "MONDO:0008710",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008710",
            "name": "RAB23-related Carpenter syndrome",
            "description": "Any Carpenter syndrome in which the cause of the disease is a mutation in the RAB23 gene."
        },
        {
            "id": "MONDO:0008710",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008710",
            "name": "ACPS 2",
            "description": ""
        },
        {
            "id": "MONDO:0008710",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008710",
            "name": "Carpenter syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008710",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008710",
            "name": "acrocephalopolysyndactyly type 2",
            "description": ""
        },
        {
            "id": "MONDO:0008710",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008710",
            "name": "Carpenter syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0008710",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008710",
            "name": "Carpenter syndrome caused by mutation in RAB23",
            "description": ""
        },
        {
            "id": "MONDO:0008710",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008710",
            "name": "Carpenter syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0008710",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008710",
            "name": "RAB23 Carpenter syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008710",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008710",
            "name": "RAB23-related Carpenter syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008710",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008710",
            "name": "CRPT1",
            "description": ""
        },
        {
            "id": "MIM:201000",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/201000",
            "name": "Carpenter syndrome 1",
            "description": "Carpenter syndrome 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061098"
    ],
    "unlinked_id_list": []
}