{
    "disease_id": "DOID:0070123",
    "recommended_name": {
        "id": "DOID:0070123",
        "resource": "Disease Ontology",
        "url": "https://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": "https://disease-ontology.org/term/DOID:0070123",
            "name": "CHNG4",
            "description": ""
        },
        {
            "id": "DOID:0070123",
            "resource": "Disease Ontology",
            "url": "https://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": "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 of",
            "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": [],
    "crossref": [
        {
            "id": "DOID:0070123",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070123",
            "categories": []
        },
        {
            "id": "MONDO:0010139",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010139",
            "categories": []
        },
        {
            "id": "MIM:275100",
            "database": "MIM",
            "url": "https://www.omim.org/entry/275100",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P12656-1",
            "uniprot_ac": "P12656",
            "uniprot_id": "TSHB_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Thyrotropin subunit beta",
                    "type": "recommended"
                },
                {
                    "name": "TSH-B",
                    "type": "synonym"
                },
                {
                    "name": "TSH-beta",
                    "type": "synonym"
                },
                {
                    "name": "Thyroid-stimulating hormone subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "Thyrotropin beta chain",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tshb",
                    "type": "recommended"
                }
            ],
            "record_id": "P12656-1",
            "evidence": [
                {
                    "id": "0070123",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070123"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P01222-1",
            "uniprot_ac": "P01222",
            "uniprot_id": "TSHB_HUMAN",
            "refseq_ac": "NP_000540",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Thyrotropin subunit beta",
                    "type": "recommended"
                },
                {
                    "name": "TSH-B",
                    "type": "synonym"
                },
                {
                    "name": "TSH-beta",
                    "type": "synonym"
                },
                {
                    "name": "Thyroid-stimulating hormone subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "Thyrotropin beta chain",
                    "type": "synonym"
                },
                {
                    "name": "thyroid stimulating hormone beta",
                    "type": "synonym"
                },
                {
                    "name": "thyrotropin beta chain",
                    "type": "synonym"
                },
                {
                    "name": "thyrotropin subunit beta isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "thyrotropin subunit beta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TSHB",
                    "type": "recommended"
                },
                {
                    "name": "TSH-BETA",
                    "type": "synonym"
                },
                {
                    "name": "TSH-B",
                    "type": "synonym"
                },
                {
                    "name": "TSHB",
                    "type": "synonym"
                }
            ],
            "record_id": "P01222-1",
            "evidence": [
                {
                    "id": "275100",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/275100"
                },
                {
                    "id": "0070123",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070123"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P04652-1",
            "uniprot_ac": "P04652",
            "uniprot_id": "TSHB_RAT",
            "refseq_ac": "NP_037248",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Thyrotropin subunit beta",
                    "type": "recommended"
                },
                {
                    "name": "TSH-B",
                    "type": "synonym"
                },
                {
                    "name": "TSH-beta",
                    "type": "synonym"
                },
                {
                    "name": "Thyroid-stimulating hormone subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "Thyrotropin beta chain",
                    "type": "synonym"
                },
                {
                    "name": "thyroid stimulating hormone, beta subunit",
                    "type": "synonym"
                },
                {
                    "name": "thyrotropin beta chain",
                    "type": "synonym"
                },
                {
                    "name": "thyrotropin subunit beta precursor",
                    "type": "synonym"
                },
                {
                    "name": "thyrotropin subunit beta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tshb",
                    "type": "recommended"
                },
                {
                    "name": "Tshb",
                    "type": "synonym"
                }
            ],
            "record_id": "P04652-1",
            "evidence": [
                {
                    "id": "0070123",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070123"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070123"
}