{
    "disease_id": "DOID:0080787",
    "recommended_name": {
        "id": "DOID:0080787",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080787",
        "name": "proximal symphalangism 1",
        "description": "A proximal symphalangism that is characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and, in some cases, conductive deafness and that has_material_basis_in heterozygous mutation in the NOG gene on chromosome 17q22."
    },
    "synonyms": [
        {
            "id": "MONDO:0020733",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020733",
            "name": "proximal symphalangism 1A",
            "description": ""
        },
        {
            "id": "MONDO:0020733",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020733",
            "name": "Sym1",
            "description": ""
        },
        {
            "id": "MONDO:0020733",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020733",
            "name": "symphalangism, proximal, type 1A",
            "description": ""
        },
        {
            "id": "MONDO:0020733",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020733",
            "name": "SYM1A",
            "description": ""
        },
        {
            "id": "MONDO:0020733",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020733",
            "name": "symphalangism, proximal, 1A",
            "description": ""
        },
        {
            "id": "MONDO:0020733",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020733",
            "name": "Cushing symphalangism",
            "description": ""
        },
        {
            "id": "MONDO:0020733",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020733",
            "name": "symphalangism, proximal, 1A; SYM1A",
            "description": ""
        },
        {
            "id": "MONDO:0020733",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020733",
            "name": "hereditary absence of the proximal interphalangeal joints",
            "description": ""
        },
        {
            "id": "MIM:185800",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/185800",
            "name": "Symphalangism, proximal 1A",
            "description": "Symphalangism, proximal 1A"
        }
    ]
}