{
    "disease_id": "DOID:0050328", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010142", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010142", 
            "name": "hypothyroidism due to TSH receptor mutations"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010142", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010142", 
            "name": "hypothyroidism, congenital, nongoitrous, type 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010142", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010142", 
            "name": "hypothyroidism, congenital, nongoitrous, 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010142", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010142", 
            "name": "hypothyroidism due to unresponsiveness to thyrotropin"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010142", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010142", 
            "name": "hypothyroidism, congenital, nongoitrous, 1; CHNG1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010142", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010142", 
            "name": "congenital nongoitrous hypothyroidism 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010142", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010142", 
            "name": "congenital nongoitrous hypothryoidism 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010142", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010142", 
            "name": "CHNG1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010142", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010142", 
            "name": "TSH resistance"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010142", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010142", 
            "name": "thyroid-stimulating hormone, resistance to"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010142", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010142", 
            "name": "hypothyroidism, congenital, due to TSH resistance"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010142", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010142", 
            "name": "hypothyroidism, Nonautoimmune"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010142", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010142", 
            "name": "thyrotropin resistance"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0050328", 
        "description": "A hypothyroidism that is present at birth.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0050328", 
        "name": "congenital hypothyroidism"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0050328#disease-associations", 
            "id": "0050328", 
            "database": "Alliance of Genome Resources"
        }
    ]
}