{
    "disease_id": "DOID:0070235",
    "recommended_name": {
        "id": "DOID:0070235",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070235",
        "name": "Loeys-Dietz syndrome 1",
        "description": "A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFBR1 gene on chromosome 9q22."
    },
    "synonyms": [
        {
            "id": "DOID:0070235",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070235",
            "name": "AAT5",
            "description": ""
        },
        {
            "id": "DOID:0070235",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070235",
            "name": "Furlong syndrome",
            "description": ""
        },
        {
            "id": "DOID:0070235",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070235",
            "name": "LDS1",
            "description": ""
        },
        {
            "id": "DOID:0070235",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070235",
            "name": "familial throacic aortic aneurysm 5",
            "description": ""
        },
        {
            "id": "MONDO:0012212",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012212",
            "name": "Loeys-Dietz syndrome 1",
            "description": "A rare autosomal dominant syndrome caused by mutations in the TGFBR1 gene. It is characterized by vascular abnormalities (aortic and arterial aneurysms, aortic dissection, and tortuosity of the arteries), hypertelorism, bifid uvula, and early fusion of the skull bones."
        },
        {
            "id": "MONDO:0012212",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012212",
            "name": "Furlong syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012212",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012212",
            "name": "Loeys-Dietz syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0012212",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012212",
            "name": "Loeys-Dietz syndrome caused by mutation in TGFBR1",
            "description": ""
        },
        {
            "id": "MONDO:0012212",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012212",
            "name": "Loeys-Dietz syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0012212",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012212",
            "name": "TGFBR1 Loeys-Dietz syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012212",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012212",
            "name": "LDS1",
            "description": ""
        },
        {
            "id": "MIM:609192",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/609192",
            "name": "Loeys-Dietz syndrome 1",
            "description": "Loeys-Dietz syndrome 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070235"
    ],
    "unlinked_id_list": []
}