{
    "disease_id": "DOID:0111836",
    "recommended_name": {
        "id": "DOID:0111836",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111836",
        "name": "congenital nongoitrous hypothyroidism 7",
        "description": "A congenital hypothyroidism characterized by normal-to-low T4 and normal-to-high thyrotropin levels, with reduced or absent pituitary responsiveness to thyrotropin-releasing hormone that has_material_basis_in homozygous or compound heterozygous mutation in the TRHR gene on chromosome 8q23.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111836",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111836",
            "name": "central hypothyroidism due to TRH receptor deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111836",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111836",
            "name": "CHNG7",
            "description": ""
        },
        {
            "id": "DOID:0111836",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111836",
            "name": "TRH resistance syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111836",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111836",
            "name": "resistance to thyrotropin-releasing hormone syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0032819",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032819",
            "name": "hypothyroidism, congenital, nongoitrous, 7",
            "description": ""
        },
        {
            "id": "MONDO:0032819",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032819",
            "name": "TRH resistance syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0032819",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032819",
            "name": "central hypothyroidism due to TRH receptor deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0032819",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032819",
            "name": "hypothyroidism, congenital, nongoitrous, 7",
            "description": ""
        },
        {
            "id": "MONDO:0032819",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032819",
            "name": "resistance to thyrotropin-releasing hormone syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0032819",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032819",
            "name": "CHNG7",
            "description": ""
        },
        {
            "id": "MONDO:0032819",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032819",
            "name": "thyrotropin-releasing hormone resistance, generalised",
            "description": ""
        },
        {
            "id": "MIM:618573",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618573",
            "name": "Hypothyroidism, congenital, non-goitrous, 7",
            "description": "Hypothyroidism, congenital, non-goitrous, 7"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111836"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111836",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111836",
            "categories": []
        },
        {
            "id": "MONDO:0032819",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032819",
            "categories": []
        },
        {
            "id": "MIM:618573",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618573",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0ACD6B6K5-1",
            "uniprot_ac": "A0ACD6B6K5",
            "uniprot_id": "A0ACD6B6K5_DANRE",
            "refseq_ac": "XP_687246",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Thyrotropin-releasing hormone receptor",
                    "type": "recommended"
                },
                {
                    "name": "Thyroliberin receptor",
                    "type": "synonym"
                },
                {
                    "name": "thyrotropin-releasing hormone receptor isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "trhra",
                    "type": "recommended"
                },
                {
                    "name": "trhra",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ACD6B6K5-1",
            "evidence": [
                {
                    "id": "0111836",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111836"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A8E7L5-1",
            "uniprot_ac": "A8E7L5",
            "uniprot_id": "A8E7L5_DANRE",
            "refseq_ac": "NP_001108160",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Thyrotropin-releasing hormone receptor",
                    "type": "recommended"
                },
                {
                    "name": "Thyroliberin receptor",
                    "type": "synonym"
                },
                {
                    "name": "thyrotropin-releasing hormone receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "thyrotropin-releasing hormone receptor b",
                    "type": "synonym"
                },
                {
                    "name": "trhr1",
                    "type": "synonym"
                },
                {
                    "name": "trhr",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "trhrb",
                    "type": "recommended"
                },
                {
                    "name": "si:ch211-122p23.1",
                    "type": "synonym"
                },
                {
                    "name": "trhrb",
                    "type": "synonym"
                }
            ],
            "record_id": "A8E7L5-1",
            "evidence": [
                {
                    "id": "0111836",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111836"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P21761-1",
            "uniprot_ac": "P21761",
            "uniprot_id": "TRHR_MOUSE",
            "refseq_ac": "NP_038724",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Thyrotropin-releasing hormone receptor",
                    "type": "recommended"
                },
                {
                    "name": "TRH-R",
                    "type": "synonym"
                },
                {
                    "name": "Thyroliberin receptor",
                    "type": "synonym"
                },
                {
                    "name": "thyroliberin receptor",
                    "type": "synonym"
                },
                {
                    "name": "thyrotropin-releasing hormone receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Trhr",
                    "type": "recommended"
                },
                {
                    "name": "TRH-R1",
                    "type": "synonym"
                },
                {
                    "name": "Trhr",
                    "type": "synonym"
                }
            ],
            "record_id": "P21761-1",
            "evidence": [
                {
                    "id": "0111836",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111836"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P34981-1",
            "uniprot_ac": "P34981",
            "uniprot_id": "TRFR_HUMAN",
            "refseq_ac": "NP_003292",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Thyrotropin-releasing hormone receptor",
                    "type": "recommended"
                },
                {
                    "name": "TRH-R",
                    "type": "synonym"
                },
                {
                    "name": "Thyroliberin receptor",
                    "type": "synonym"
                },
                {
                    "name": "thyroliberin receptor",
                    "type": "synonym"
                },
                {
                    "name": "thyrotropin-releasing hormone receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TRHR",
                    "type": "recommended"
                },
                {
                    "name": "CHNG7",
                    "type": "synonym"
                },
                {
                    "name": "TRH-R",
                    "type": "synonym"
                },
                {
                    "name": "TRHR",
                    "type": "synonym"
                }
            ],
            "record_id": "P34981-1",
            "evidence": [
                {
                    "id": "618573",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618573"
                },
                {
                    "id": "0111836",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111836"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q01717-1",
            "uniprot_ac": "Q01717",
            "uniprot_id": "TRHR_RAT",
            "refseq_ac": "NP_037179",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Thyrotropin-releasing hormone receptor",
                    "type": "recommended"
                },
                {
                    "name": "TRH-R",
                    "type": "synonym"
                },
                {
                    "name": "Thyroliberin receptor",
                    "type": "synonym"
                },
                {
                    "name": "thyroliberin receptor",
                    "type": "synonym"
                },
                {
                    "name": "thyrotropin-releasing hormone receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Trhr",
                    "type": "recommended"
                },
                {
                    "name": "Trhr",
                    "type": "synonym"
                }
            ],
            "record_id": "Q01717-1",
            "evidence": [
                {
                    "id": "0111836",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111836"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VDC4-1",
            "uniprot_ac": "Q9VDC4",
            "uniprot_id": "Q9VDC4_DROME",
            "refseq_ac": "NP_001287439",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Thyrotropin-releasing hormone receptor",
                    "type": "recommended"
                },
                {
                    "name": "CG5911-PC",
                    "type": "synonym"
                },
                {
                    "name": "ETH receptor",
                    "type": "synonym"
                },
                {
                    "name": "ETHR, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "ETHR-PC",
                    "type": "synonym"
                },
                {
                    "name": "Ecdysis-triggering hormone receptor",
                    "type": "synonym"
                },
                {
                    "name": "Thyroliberin receptor",
                    "type": "synonym"
                },
                {
                    "name": "ecdysis triggering hormone receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ETHR",
                    "type": "recommended"
                },
                {
                    "name": "CG5911a",
                    "type": "synonym"
                },
                {
                    "name": "CG5911b",
                    "type": "synonym"
                },
                {
                    "name": "CG5911",
                    "type": "synonym"
                },
                {
                    "name": "Dm ETHRa",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5911",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5911",
                    "type": "synonym"
                },
                {
                    "name": "ETH R",
                    "type": "synonym"
                },
                {
                    "name": "ETH-R",
                    "type": "synonym"
                },
                {
                    "name": "ETHR",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0170980.37",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0170980.38",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VDC4-1",
            "evidence": [
                {
                    "id": "0111836",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111836"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111836"
}