{
    "disease_id": "DOID:0070124",
    "recommended_name": {
        "id": "DOID:0070124",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0070124",
        "name": "congenital nongoitrous hypothyroidism 2",
        "description": "A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the PAX8 gene on chromosome 2q13."
    },
    "synonyms": [
        {
            "id": "DOID:0070124",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070124",
            "name": "CHNG2",
            "description": ""
        },
        {
            "id": "DOID:0070124",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070124",
            "name": "congenital hypothyroidism due to thyroid dysgenesis or hypoplasia",
            "description": ""
        },
        {
            "id": "MONDO:0024264",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024264",
            "name": "hypothyroidism, congenital, nongoitrous, 2",
            "description": "A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the PAX8 gene on chromosome 2q13."
        },
        {
            "id": "MONDO:0024264",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024264",
            "name": "thyroid agenesis",
            "description": ""
        },
        {
            "id": "MONDO:0024264",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024264",
            "name": "thyroid hypoplasia",
            "description": ""
        },
        {
            "id": "MONDO:0024264",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024264",
            "name": "congenital nongoitrous hypothyroidism 2",
            "description": ""
        },
        {
            "id": "MONDO:0024264",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024264",
            "name": "CHNG2",
            "description": ""
        },
        {
            "id": "MONDO:0024264",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024264",
            "name": "resistance to thyrotropin",
            "description": ""
        },
        {
            "id": "MONDO:0024264",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024264",
            "name": "congenital nongoitrous hypothryoidism 2",
            "description": ""
        },
        {
            "id": "MONDO:0024264",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024264",
            "name": "hypothyroidism, congenital, due to thyroid dysgenesis",
            "description": ""
        },
        {
            "id": "MONDO:0024264",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024264",
            "name": "thyrotropin resistance",
            "description": ""
        },
        {
            "id": "MONDO:0024264",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024264",
            "name": "hypothyroidism, athyreotic",
            "description": ""
        },
        {
            "id": "MONDO:0024264",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024264",
            "name": "congenital hypothyroidism due to thyroid dysgenesis or hypoplasia",
            "description": ""
        },
        {
            "id": "MONDO:0024264",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024264",
            "name": "thyroid, ectopic",
            "description": ""
        },
        {
            "id": "MONDO:0024264",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024264",
            "name": "athyreotic hypothyroidism",
            "description": ""
        },
        {
            "id": "MONDO:0024264",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024264",
            "name": "hypothyroidism, congenital, nongoitrous, 2; CHNG2",
            "description": ""
        },
        {
            "id": "MONDO:0024264",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024264",
            "name": "thyroid dysgenesis",
            "description": ""
        },
        {
            "id": "MIM:218700",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/218700",
            "name": "Hypothyroidism, congenital, non-goitrous, 2",
            "description": "Hypothyroidism, congenital, non-goitrous, 2"
        }
    ]
}