{
    "disease_id": "DOID:0050328",
    "recommended_name": {
        "id": "DOID:0050328",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0050328",
        "name": "congenital hypothyroidism",
        "description": "A hypothyroidism that is present at birth."
    },
    "synonyms": [
        {
            "id": "MONDO:0010142",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010142",
            "name": "hypothyroidism due to TSH receptor mutations",
            "description": "Hypothyroidism due to thyroid-stimulating hormone (TSH) receptor mutations is a type of primary congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to TSH."
        },
        {
            "id": "MONDO:0010142",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010142",
            "name": "hypothyroidism, congenital, nongoitrous, type 1",
            "description": ""
        },
        {
            "id": "MONDO:0010142",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010142",
            "name": "hypothyroidism, congenital, nongoitrous, 1",
            "description": ""
        },
        {
            "id": "MONDO:0010142",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010142",
            "name": "hypothyroidism due to unresponsiveness to thyrotropin",
            "description": ""
        },
        {
            "id": "MONDO:0010142",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010142",
            "name": "hypothyroidism, congenital, nongoitrous, 1; CHNG1",
            "description": ""
        },
        {
            "id": "MONDO:0010142",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010142",
            "name": "congenital nongoitrous hypothyroidism 1",
            "description": ""
        },
        {
            "id": "MONDO:0010142",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010142",
            "name": "congenital nongoitrous hypothryoidism 1",
            "description": ""
        },
        {
            "id": "MONDO:0010142",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010142",
            "name": "CHNG1",
            "description": ""
        },
        {
            "id": "MONDO:0010142",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010142",
            "name": "TSH resistance",
            "description": ""
        },
        {
            "id": "MONDO:0010142",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010142",
            "name": "thyroid-stimulating hormone, resistance to",
            "description": ""
        },
        {
            "id": "MONDO:0010142",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010142",
            "name": "hypothyroidism, congenital, due to TSH resistance",
            "description": ""
        },
        {
            "id": "MONDO:0010142",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010142",
            "name": "hypothyroidism, Nonautoimmune",
            "description": ""
        },
        {
            "id": "MONDO:0010142",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010142",
            "name": "thyrotropin resistance",
            "description": ""
        },
        {
            "id": "MIM:275200",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/275200",
            "name": "Hypothyroidism, congenital, non-goitrous, 1",
            "description": "Hypothyroidism, congenital, non-goitrous, 1"
        }
    ]
}