{
    "disease_id": "DOID:0070123",
    "recommended_name": {
        "id": "DOID:0070123",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0070123",
        "name": "congenital nongoitrous hypothyroidism 4",
        "description": "A congenital hypothyroidism characterized by a permanent thyroid deficiency present at birth and resulting from deficiency in TSH synthesis that has_material_basis_in homozygous mutation in the TSHB gene on chromosome 1p13."
    },
    "synonyms": [
        {
            "id": "DOID:0070123",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070123",
            "name": "CHNG4",
            "description": ""
        },
        {
            "id": "DOID:0070123",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070123",
            "name": "isolated thyrotropin deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010139",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010139",
            "name": "isolated thyroid-stimulating hormone deficiency",
            "description": "Isolated thyroid-stimulating hormone (TSH) deficiency is a type of central congenital hypothyroidism, a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones due to a deficiency in TSH synthesis."
        },
        {
            "id": "MONDO:0010139",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010139",
            "name": "CHNG4",
            "description": ""
        },
        {
            "id": "MONDO:0010139",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010139",
            "name": "hypothyroidism, congenital, nongoitrous 4",
            "description": ""
        },
        {
            "id": "MONDO:0010139",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010139",
            "name": "hypothyroidism, congenital, nongoitrous, type 4",
            "description": ""
        },
        {
            "id": "MONDO:0010139",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010139",
            "name": "isolated TSH deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010139",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010139",
            "name": "isolated thyrotropin deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010139",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010139",
            "name": "TSH deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010139",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010139",
            "name": "congenital nongoitrous hypothyroidism 4",
            "description": ""
        },
        {
            "id": "MONDO:0010139",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010139",
            "name": "hypothyroidism, congenital, nongoitrous, 4",
            "description": ""
        },
        {
            "id": "MONDO:0010139",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010139",
            "name": "pituitary cretinism",
            "description": ""
        },
        {
            "id": "MONDO:0010139",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010139",
            "name": "thyroid-stimulating hormone deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010139",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010139",
            "name": "thyroid-stimulating hormone, deficiency of",
            "description": ""
        },
        {
            "id": "MONDO:0010139",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010139",
            "name": "thyrotropin deficiency, isolated",
            "description": ""
        },
        {
            "id": "MONDO:0010139",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010139",
            "name": "thyrotropin, biologically inactive",
            "description": ""
        },
        {
            "id": "MIM:275100",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/275100",
            "name": "Hypothyroidism, congenital, non-goitrous, 4",
            "description": "Hypothyroidism, congenital, non-goitrous, 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070123"
    ],
    "unlinked_id_list": []
}