{
    "disease_id": "DOID:0060987",
    "recommended_name": {
        "id": "DOID:0060987",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060987",
        "name": "preaxial polydactyly I",
        "description": "A polydactyly characterized by the duplication of one or more skeletal components of a biphalangeal thumb and/or hallux that has_material_basis_in homozygous mutation in the GLI1 gene (165220) on chromosome 12q13."
    },
    "synonyms": [
        {
            "id": "MONDO:0008269",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008269",
            "name": "polydactyly of a biphalangeal thumb",
            "description": "Polydactyly of a biphalangeal thumb or PPD1 is the most common form of preaxial polydactyly of fingers, a limb malformation syndrome, that is characterized by the duplication of one or more skeletal components of a biphalangeal thumb. Hands are preferentially affected (in bilateral), and the right hand is more commonly involved than the left."
        },
        {
            "id": "MONDO:0008269",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008269",
            "name": "PPD1",
            "description": ""
        },
        {
            "id": "MONDO:0008269",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008269",
            "name": "polydactyly, preaxial type 1",
            "description": ""
        },
        {
            "id": "MONDO:0008269",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008269",
            "name": "preaxial polydactyly type 1",
            "description": ""
        },
        {
            "id": "MONDO:0008269",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008269",
            "name": "polydactyly preaxial 1",
            "description": ""
        },
        {
            "id": "MONDO:0008269",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008269",
            "name": "preaxial polydactyly 1",
            "description": ""
        },
        {
            "id": "MIM:174400",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/174400",
            "name": "Polydactyly, preaxial 1",
            "description": "Polydactyly, preaxial 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060987"
    ],
    "unlinked_id_list": []
}