{
    "disease_id": "DOID:0080788",
    "recommended_name": {
        "id": "DOID:0080788",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080788",
        "name": "proximal symphalangism 2",
        "description": "A proximal symphalangism that is characterized by absence of the cuboid bone and lack of shortness of the first and fifth metacarpal bones, and the presence of distal interphalangeal joint fusions and flat feet and that has_material_basis_in heterozygous mutation in the GDF5 gene on chromosome 20q11."
    },
    "synonyms": [
        {
            "id": "MONDO:0014125",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014125",
            "name": "symphalangism, proximal, 1B",
            "description": "Any proximal symphalangism in which the cause of the disease is a mutation in the GDF5 gene."
        },
        {
            "id": "MONDO:0014125",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014125",
            "name": "GDF5 proximal symphalangism (disease)",
            "description": ""
        },
        {
            "id": "MONDO:0014125",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014125",
            "name": "proximal symphalangism (disease) caused by mutation in GDF5",
            "description": ""
        },
        {
            "id": "MONDO:0014125",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014125",
            "name": "symphalangism, proximal, 1B",
            "description": ""
        },
        {
            "id": "MONDO:0014125",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014125",
            "name": "symphalangism, proximal, type 1B",
            "description": ""
        },
        {
            "id": "MONDO:0014125",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014125",
            "name": "SYM1B",
            "description": ""
        },
        {
            "id": "MIM:615298",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615298",
            "name": "Symphalangism, proximal 1B",
            "description": "Symphalangism, proximal 1B"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080788"
    ],
    "unlinked_id_list": []
}