{
    "disease_id": "DOID:0111247",
    "recommended_name": {
        "id": "DOID:0111247",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111247",
        "name": "hypertension and brachydactyly syndrome",
        "description": "A syndrome characterized by brachydactyly type E, severe salt-independent but age-dependent hypertension, an increased fibroblast growth rate, neurovascular contact at the rostral-ventrolateral medulla, altered baroreflex blood pressure regulation, and increased risk of stroke when untreated that has_material_basis_in heterozygous mutation in PDE3A on 12p12.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111247",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111247",
            "name": "Bilginturan brachydactyly",
            "description": ""
        },
        {
            "id": "DOID:0111247",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111247",
            "name": "Bilginturan syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111247",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111247",
            "name": "HTNB",
            "description": ""
        },
        {
            "id": "DOID:0111247",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111247",
            "name": "type E brachydactyly with short stature and hypertension",
            "description": ""
        },
        {
            "id": "DOID:0111247",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111247",
            "name": "brachydactyly with hypertension",
            "description": ""
        },
        {
            "id": "MONDO:0007211",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007211",
            "name": "brachydactyly-arterial hypertension syndrome",
            "description": "Brachydactyly - arterial hypertension is a rare genetic brachydactyly syndrome characterized by the association of brachydactyly type E (see this term) with hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood and, if untreated, most patients will have had a stroke by the age of 50."
        },
        {
            "id": "MONDO:0007211",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007211",
            "name": "brachydactyly type E, with short stature and hypertension",
            "description": ""
        },
        {
            "id": "MONDO:0007211",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007211",
            "name": "brachydactyly with hypertension",
            "description": ""
        },
        {
            "id": "MONDO:0007211",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007211",
            "name": "hypertension and brachydactyly syndrome; HTNB",
            "description": ""
        },
        {
            "id": "MONDO:0007211",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007211",
            "name": "brachydactyly type E with short stature and hypertension",
            "description": ""
        },
        {
            "id": "MONDO:0007211",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007211",
            "name": "brachydactyly, type E, with short stature and hypertension",
            "description": ""
        },
        {
            "id": "MONDO:0007211",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007211",
            "name": "HTNB",
            "description": ""
        },
        {
            "id": "MONDO:0007211",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007211",
            "name": "hypertension and brachydactyly syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007211",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007211",
            "name": "Bilginturan syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007211",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007211",
            "name": "Bilginturan brachydactyly",
            "description": ""
        },
        {
            "id": "MIM:112410",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/112410",
            "name": "Hypertension and brachydactyly syndrome",
            "description": "Hypertension and brachydactyly syndrome"
        }
    ]
}