{
    "disease_id": "DOID:2231",
    "recommended_name": {
        "id": "DOID:2231",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:2231",
        "name": "factor XII deficiency",
        "description": "A blood coagulation disease that is characterized by prolonged PTT time without clinical symptoms, and has_material_basis_in a mutation in the F12 gene on chromosome 5q33."
    },
    "synonyms": [
        {
            "id": "DOID:2231",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:2231",
            "name": "Factor XII deficiency disease",
            "description": ""
        },
        {
            "id": "DOID:2231",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:2231",
            "name": "Hageman Factor deficiency",
            "description": ""
        },
        {
            "id": "DOID:2231",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:2231",
            "name": "deficiency, Hageman",
            "description": ""
        },
        {
            "id": "MONDO:0009315",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009315",
            "name": "congenital factor XII deficiency",
            "description": "Congenital factor XII deficiency is an autosomal recessive systemic dysfunction of the hemostatic pathway, that is due to a defect in the coagulation factor XII (FXII or Hageman factor), and is either asymptomatic or characterized by a prolonged activated partial thromboplastin time and an increased risk for thromboembolism. FXII deficiency is strongly associated with primary recurrent abortions."
        },
        {
            "id": "MONDO:0009315",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009315",
            "name": "F12 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009315",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009315",
            "name": "factor XII deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009315",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009315",
            "name": "congenital Hageman factor deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009315",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009315",
            "name": "deficiency, Hageman",
            "description": ""
        },
        {
            "id": "MONDO:0009315",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009315",
            "name": "coagulation factor 12 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009315",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009315",
            "name": "Haf deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009315",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009315",
            "name": "Hageman Factor deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009315",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009315",
            "name": "factor 12 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009315",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009315",
            "name": "factor XII deficiency disease",
            "description": ""
        },
        {
            "id": "MIM:234000",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/234000",
            "name": "Factor XII deficiency",
            "description": "Factor XII deficiency"
        }
    ]
}