{
    "disease_id": "DOID:0060744",
    "recommended_name": {
        "id": "DOID:0060744",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0060744",
        "name": "Pendred Syndrome",
        "description": "A syndrome characterized by bilateral prelingual sensorineural hearing loss and euthyroid goiter and that has_material_basis_in homozygous or compound heterozygous mutation in the SLC26A4 gene on chromosome 7q."
    },
    "synonyms": [
        {
            "id": "DOID:0060744",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060744",
            "name": "TDH2B",
            "description": ""
        },
        {
            "id": "DOID:0060744",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060744",
            "name": "deafness with goiter",
            "description": ""
        },
        {
            "id": "DOID:0060744",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060744",
            "name": "genetic defect in thyroid hormonogenesis 2B",
            "description": ""
        },
        {
            "id": "DOID:0060744",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060744",
            "name": "goiter-deafness syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060744",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060744",
            "name": "thyroid dyshormonogenesis 2B",
            "description": ""
        },
        {
            "id": "DOID:0060744",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060744",
            "name": "congenital hypothyroidism due to dyshormonogenesis 2B",
            "description": ""
        },
        {
            "id": "MONDO:0010134",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010134",
            "name": "Pendred syndrome",
            "description": "Pendred syndrome (PDS) is a clinically variable genetic disorder characterized by bilateral sensorineural hearing loss and euthyroid goiter."
        },
        {
            "id": "MONDO:0010134",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010134",
            "name": "Pendred syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010134",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010134",
            "name": "hypothyroidism, congenital, due to dyshormonogenesis, 2B",
            "description": ""
        },
        {
            "id": "MONDO:0010134",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010134",
            "name": "PDS",
            "description": ""
        },
        {
            "id": "MONDO:0010134",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010134",
            "name": "thyroid hormonogenesis, genetic defect in, 2B",
            "description": ""
        },
        {
            "id": "MONDO:0010134",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010134",
            "name": "autosomal recessive sensorineural hearing impairment and goiter",
            "description": ""
        },
        {
            "id": "MONDO:0010134",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010134",
            "name": "TDH2B",
            "description": ""
        },
        {
            "id": "MONDO:0010134",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010134",
            "name": "thyroid dyshormonogenesis 2B",
            "description": ""
        },
        {
            "id": "MONDO:0010134",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010134",
            "name": "goiter-deafness syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010134",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010134",
            "name": "Pendred syndrome; PDS",
            "description": ""
        },
        {
            "id": "MONDO:0010134",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010134",
            "name": "deafness with goiter",
            "description": ""
        },
        {
            "id": "MONDO:0010134",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010134",
            "name": "congenital hypothyroidism due to dyshormonogenesis 2B",
            "description": ""
        },
        {
            "id": "MONDO:0010134",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010134",
            "name": "genetic defect in thyroid hormonogenesis 2B",
            "description": ""
        },
        {
            "id": "MIM:274600",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/274600",
            "name": "Pendred syndrome",
            "description": "Pendred syndrome"
        }
    ]
}