{
    "disease_id": "DOID:0080787", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0020733", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0020733", 
            "name": "proximal symphalangism 1A"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0020733", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0020733", 
            "name": "Sym1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0020733", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0020733", 
            "name": "symphalangism, proximal, type 1A"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0020733", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0020733", 
            "name": "SYM1A"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0020733", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0020733", 
            "name": "symphalangism, proximal, 1A"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0020733", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0020733", 
            "name": "Cushing symphalangism"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0020733", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0020733", 
            "name": "symphalangism, proximal, 1A; SYM1A"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0020733", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0020733", 
            "name": "hereditary absence of the proximal interphalangeal joints"
        }, 
        {
            "url": "https://www.omim.org/entry/185800", 
            "description": "", 
            "resource": "MIM", 
            "id": "MIM:185800", 
            "name": "Symphalangism, proximal 1A"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0080787", 
        "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.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0080787", 
        "name": "proximal symphalangism 1"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/185800", 
            "id": "185800", 
            "database": "MIM"
        }
    ]
}
