{
    "disease_id": "DOID:0070126",
    "recommended_name": {
        "id": "DOID:0070126",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070126",
        "name": "congenital nongoitrous hypothyroidism 1",
        "description": "A congenital hypothyroidism that has_material_basis_in mutation in the TSHR gene on chromosome 14q31."
    },
    "synonyms": [
        {
            "id": "DOID:0070126",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070126",
            "name": "CHNG1",
            "description": ""
        },
        {
            "id": "DOID:0070126",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070126",
            "name": "TSH resistance",
            "description": ""
        },
        {
            "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, 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": "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": "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": "MIM:275200",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/275200",
            "name": "Hypothyroidism, congenital, non-goitrous, 1",
            "description": "Hypothyroidism, congenital, non-goitrous, 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070126"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070126",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070126",
            "categories": []
        },
        {
            "id": "MONDO:0010142",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010142",
            "categories": []
        },
        {
            "id": "MIM:275200",
            "database": "MIM",
            "url": "https://www.omim.org/entry/275200",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P47750-1",
            "uniprot_ac": "P47750",
            "uniprot_id": "TSHR_MOUSE",
            "refseq_ac": "NP_035778",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Thyrotropin receptor",
                    "type": "recommended"
                },
                {
                    "name": "TSH-R",
                    "type": "synonym"
                },
                {
                    "name": "Thyroid-stimulating hormone receptor",
                    "type": "synonym"
                },
                {
                    "name": "thyrotropin receptor isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "thyrotropin receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tshr",
                    "type": "recommended"
                },
                {
                    "name": "Tshr",
                    "type": "synonym"
                },
                {
                    "name": "hypothroid",
                    "type": "synonym"
                },
                {
                    "name": "hyt",
                    "type": "synonym"
                },
                {
                    "name": "pet",
                    "type": "synonym"
                }
            ],
            "record_id": "P47750-1",
            "evidence": [
                {
                    "id": "0070126",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070126"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P16473-1",
            "uniprot_ac": "P16473",
            "uniprot_id": "TSHR_HUMAN",
            "refseq_ac": "NP_000360",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Thyrotropin receptor",
                    "type": "recommended"
                },
                {
                    "name": "TSH receptor",
                    "type": "synonym"
                },
                {
                    "name": "TSH-R",
                    "type": "synonym"
                },
                {
                    "name": "Thyroid-stimulating hormone receptor",
                    "type": "synonym"
                },
                {
                    "name": "seven transmembrane helix receptor",
                    "type": "synonym"
                },
                {
                    "name": "thyrotropin receptor isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "thyrotropin receptor-I, hTSHR-I",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TSHR",
                    "type": "recommended"
                },
                {
                    "name": "CHNG1",
                    "type": "synonym"
                },
                {
                    "name": "LGR3",
                    "type": "synonym"
                },
                {
                    "name": "TSHR",
                    "type": "synonym"
                },
                {
                    "name": "hTSHR-I",
                    "type": "synonym"
                }
            ],
            "record_id": "P16473-1",
            "evidence": [
                {
                    "id": "275200",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/275200"
                },
                {
                    "id": "0070126",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070126"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P21463-1",
            "uniprot_ac": "P21463",
            "uniprot_id": "TSHR_RAT",
            "refseq_ac": "NP_037020",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Thyrotropin receptor",
                    "type": "recommended"
                },
                {
                    "name": "TSH-R",
                    "type": "synonym"
                },
                {
                    "name": "Thyroid-stimulating hormone receptor",
                    "type": "synonym"
                },
                {
                    "name": "thyrotropin receptor precursor",
                    "type": "synonym"
                },
                {
                    "name": "thyrotropin receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tshr",
                    "type": "recommended"
                },
                {
                    "name": "TSHRA",
                    "type": "synonym"
                },
                {
                    "name": "TSHR",
                    "type": "synonym"
                },
                {
                    "name": "Tshr",
                    "type": "synonym"
                }
            ],
            "record_id": "P21463-1",
            "evidence": [
                {
                    "id": "0070126",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070126"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VEG4-1",
            "uniprot_ac": "Q9VEG4",
            "uniprot_id": "Q9VEG4_DROME",
            "refseq_ac": "NP_524393",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG7665-PA",
                    "type": "synonym"
                },
                {
                    "name": "Fsh-Tsh-like receptor",
                    "type": "synonym"
                },
                {
                    "name": "Leu-rich repeats-containing G protein-coupled receptor",
                    "type": "synonym"
                },
                {
                    "name": "Leucine-rich repeat-containing G protein-coupled receptor 1, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Leucine-rich repeat-containing G protein-coupled receptor 1, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "Lgr1-PA",
                    "type": "synonym"
                },
                {
                    "name": "glycoprotein A2/Glycoprotein B5 receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lgr1",
                    "type": "recommended"
                },
                {
                    "name": "CG receptor",
                    "type": "synonym"
                },
                {
                    "name": "CG7665",
                    "type": "synonym"
                },
                {
                    "name": "DLGR-1",
                    "type": "synonym"
                },
                {
                    "name": "DLGR1",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7665",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG7665",
                    "type": "synonym"
                },
                {
                    "name": "FSH-TSH",
                    "type": "synonym"
                },
                {
                    "name": "FSH",
                    "type": "synonym"
                },
                {
                    "name": "Fsh R",
                    "type": "synonym"
                },
                {
                    "name": "Fsh/CG7665",
                    "type": "synonym"
                },
                {
                    "name": "Fsh",
                    "type": "synonym"
                },
                {
                    "name": "LGR1",
                    "type": "synonym"
                },
                {
                    "name": "LH/CG receptor",
                    "type": "synonym"
                },
                {
                    "name": "Lgr1",
                    "type": "synonym"
                },
                {
                    "name": "RH44949p",
                    "type": "synonym"
                },
                {
                    "name": "TSH",
                    "type": "synonym"
                },
                {
                    "name": "dLGR1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VEG4-1",
            "evidence": [
                {
                    "id": "0070126",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070126"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070126"
}