{
    "disease_id": "DOID:0111837",
    "recommended_name": {
        "id": "DOID:0111837",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111837",
        "name": "congenital nongoitrous hypothyroidism 8",
        "description": "A congenital hypothyroidism characterized by relatively mild central hypothyroidism that has_material_basis_in heterozygous or hemizygous mutation in the TBL1X gene on chromosome Xp22.3-p22.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111837",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111837",
            "name": "CHNG8",
            "description": ""
        },
        {
            "id": "MONDO:0026731",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0026731",
            "name": "hypothyroidism, congenital, nongoitrous, 8",
            "description": ""
        },
        {
            "id": "MONDO:0026731",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0026731",
            "name": "CHNG8",
            "description": ""
        },
        {
            "id": "MIM:301033",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/301033",
            "name": "Hypothyroidism, congenital, non-goitrous, 8",
            "description": "Hypothyroidism, congenital, non-goitrous, 8"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111837"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111837",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111837",
            "categories": []
        },
        {
            "id": "MONDO:0026731",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0026731",
            "categories": []
        },
        {
            "id": "MIM:301033",
            "database": "MIM",
            "url": "https://www.omim.org/entry/301033",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9QXE7-1",
            "uniprot_ac": "Q9QXE7",
            "uniprot_id": "TBL1X_MOUSE",
            "refseq_ac": "NP_065626",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "F-box-like/WD repeat-containing protein TBL1X",
                    "type": "recommended"
                },
                {
                    "name": "F-box-like/WD repeat-containing protein TBL1X",
                    "type": "synonym"
                },
                {
                    "name": "Transducin beta-like protein 1X",
                    "type": "synonym"
                },
                {
                    "name": "transducin beta-like protein 1X",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tbl1x",
                    "type": "recommended"
                },
                {
                    "name": "5330429M20",
                    "type": "synonym"
                },
                {
                    "name": "Tbl1x",
                    "type": "synonym"
                },
                {
                    "name": "Tbl1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9QXE7-1",
            "evidence": [
                {
                    "id": "0111837",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111837"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O60907-1",
            "uniprot_ac": "O60907",
            "uniprot_id": "TBL1X_HUMAN",
            "refseq_ac": "NP_001132938",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "F-box-like/WD repeat-containing protein TBL1X",
                    "type": "recommended"
                },
                {
                    "name": "F-box-like/WD repeat-containing protein TBL1X isoform a",
                    "type": "synonym"
                },
                {
                    "name": "F-box-like/WD repeat-containing protein TBL1X",
                    "type": "synonym"
                },
                {
                    "name": "SMAP55",
                    "type": "synonym"
                },
                {
                    "name": "Transducin beta-like protein 1X",
                    "type": "synonym"
                },
                {
                    "name": "Transducin-beta-like protein 1, X-linked",
                    "type": "synonym"
                },
                {
                    "name": "transducin beta like 1X-linked",
                    "type": "synonym"
                },
                {
                    "name": "transducin beta-like protein 1X",
                    "type": "synonym"
                },
                {
                    "name": "transducin-beta-like protein 1, X-linked",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TBL1X",
                    "type": "recommended"
                },
                {
                    "name": "CHNG8",
                    "type": "synonym"
                },
                {
                    "name": "EBI",
                    "type": "synonym"
                },
                {
                    "name": "SMAP55",
                    "type": "synonym"
                },
                {
                    "name": "TBL1X",
                    "type": "synonym"
                },
                {
                    "name": "TBL1",
                    "type": "synonym"
                }
            ],
            "record_id": "O60907-1",
            "evidence": [
                {
                    "id": "301033",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/301033"
                },
                {
                    "id": "0111837",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111837"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P38262-1",
            "uniprot_ac": "P38262",
            "uniprot_id": "SIF2_YEAST",
            "refseq_ac": "NP_009661",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "SIR4-interacting protein SIF2",
                    "type": "recommended"
                },
                {
                    "name": "Sif2p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SIF2",
                    "type": "recommended"
                },
                {
                    "name": "EMB1",
                    "type": "synonym"
                },
                {
                    "name": "SIF2",
                    "type": "synonym"
                },
                {
                    "name": "YBR0832",
                    "type": "synonym"
                }
            ],
            "record_id": "P38262-1",
            "evidence": [
                {
                    "id": "0111837",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111837"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2JY80-1",
            "uniprot_ac": "A0A0G2JY80",
            "uniprot_id": "A0A0G2JY80_RAT",
            "refseq_ac": "NP_001423970",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "F-box-like/WD repeat-containing protein TBL1X",
                    "type": "synonym"
                },
                {
                    "name": "TBL1X/Y related 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tbl1x",
                    "type": "recommended"
                },
                {
                    "name": "RGD1563868",
                    "type": "synonym"
                },
                {
                    "name": "Tbl1x",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0G2JY80-1",
            "evidence": [
                {
                    "id": "0111837",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111837"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q95RJ9-1",
            "uniprot_ac": "Q95RJ9",
            "uniprot_id": "EBI_DROME",
            "refseq_ac": "NP_477329",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "F-box-like/WD repeat-containing protein ebi",
                    "type": "recommended"
                },
                {
                    "name": "CG4063-PA",
                    "type": "synonym"
                },
                {
                    "name": "beta transducin-like 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "ebi-PA",
                    "type": "synonym"
                },
                {
                    "name": "ebi",
                    "type": "synonym"
                },
                {
                    "name": "enhancer on chromosome 2-complementation group 2g",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ebi",
                    "type": "recommended"
                },
                {
                    "name": "CG4063",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4063",
                    "type": "synonym"
                },
                {
                    "name": "E-2f",
                    "type": "synonym"
                },
                {
                    "name": "E-2g",
                    "type": "synonym"
                },
                {
                    "name": "Ebi",
                    "type": "synonym"
                },
                {
                    "name": "FBXW4",
                    "type": "synonym"
                },
                {
                    "name": "Tb11",
                    "type": "synonym"
                },
                {
                    "name": "Tbl1",
                    "type": "synonym"
                },
                {
                    "name": "ebi",
                    "type": "synonym"
                },
                {
                    "name": "l(2)k16213",
                    "type": "synonym"
                }
            ],
            "record_id": "Q95RJ9-1",
            "evidence": [
                {
                    "id": "0111837",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111837"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111837"
}