{
    "disease_id": "DOID:0111835",
    "recommended_name": {
        "id": "DOID:0111835",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111835",
        "name": "congenital nongoitrous hypothyroidism 9",
        "description": "A congenital hypothyroidism characterized by a small thyroid gland with low free T4 levels and inappropriately normal levels of thyroid-stimulating hormone that has_material_basis_in hemizygous mutation in the IRS4 gene on chromosome Xq22.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111835",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111835",
            "name": "CHNG9",
            "description": ""
        },
        {
            "id": "MONDO:0026732",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0026732",
            "name": "hypothyroidism, congenital, nongoitrous, 9",
            "description": ""
        },
        {
            "id": "MONDO:0026732",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0026732",
            "name": "hypothyroidism, congenital, nongoitrous, 9, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0026732",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0026732",
            "name": "CHNG9",
            "description": ""
        },
        {
            "id": "MIM:301035",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/301035",
            "name": "Hypothyroidism, congenital, non-goitrous, 9",
            "description": "Hypothyroidism, congenital, non-goitrous, 9"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111835"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111835",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111835",
            "categories": []
        },
        {
            "id": "MONDO:0026732",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0026732",
            "categories": []
        },
        {
            "id": "MIM:301035",
            "database": "MIM",
            "url": "https://www.omim.org/entry/301035",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E7FCJ4-1",
            "uniprot_ac": "E7FCJ4",
            "uniprot_id": "E7FCJ4_DANRE",
            "refseq_ac": "XP_002666121",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Insulin receptor substrate 2-B",
                    "type": "synonym"
                },
                {
                    "name": "insulin receptor substrate 2-B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "irs4a",
                    "type": "recommended"
                },
                {
                    "name": "irs4a",
                    "type": "synonym"
                }
            ],
            "record_id": "E7FCJ4-1",
            "evidence": [
                {
                    "id": "0111835",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111835"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Z0Y7-1",
            "uniprot_ac": "Q9Z0Y7",
            "uniprot_id": "IRS4_MOUSE",
            "refseq_ac": "NP_034702",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Insulin receptor substrate 4",
                    "type": "recommended"
                },
                {
                    "name": "IRS-4",
                    "type": "synonym"
                },
                {
                    "name": "Phosphoprotein of 160 kDa",
                    "type": "synonym"
                },
                {
                    "name": "insulin receptor substrate 4",
                    "type": "synonym"
                },
                {
                    "name": "phosphoprotein of 160 kDa",
                    "type": "synonym"
                },
                {
                    "name": "pp160",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Irs4",
                    "type": "recommended"
                },
                {
                    "name": "IRS-4",
                    "type": "synonym"
                },
                {
                    "name": "Irs4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Z0Y7-1",
            "evidence": [
                {
                    "id": "0111835",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111835"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O14654-1",
            "uniprot_ac": "O14654",
            "uniprot_id": "IRS4_HUMAN",
            "refseq_ac": "NP_003595",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Insulin receptor substrate 4",
                    "type": "recommended"
                },
                {
                    "name": "160 kDa phosphotyrosine protein",
                    "type": "synonym"
                },
                {
                    "name": "IRS-4",
                    "type": "synonym"
                },
                {
                    "name": "Phosphoprotein of 160 kDa",
                    "type": "synonym"
                },
                {
                    "name": "insulin receptor substrate 4 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "phosphoprotein of 160 kDa",
                    "type": "synonym"
                },
                {
                    "name": "pp160",
                    "type": "synonym"
                },
                {
                    "name": "py160",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "IRS4",
                    "type": "recommended"
                },
                {
                    "name": "CHNG9",
                    "type": "synonym"
                },
                {
                    "name": "IRS-4",
                    "type": "synonym"
                },
                {
                    "name": "IRS4",
                    "type": "synonym"
                },
                {
                    "name": "PY160",
                    "type": "synonym"
                }
            ],
            "record_id": "O14654-1",
            "evidence": [
                {
                    "id": "301035",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/301035"
                },
                {
                    "id": "0111835",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111835"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LYC9-1",
            "uniprot_ac": "A0ABK0LYC9",
            "uniprot_id": "A0ABK0LYC9_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Insulin receptor substrate 4",
                    "type": "recommended"
                },
                {
                    "name": "Phosphoprotein of 160 kDa",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AABR07040887.1",
                    "type": "recommended"
                },
                {
                    "name": "Irs4",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ABK0LYC9-1",
            "evidence": [
                {
                    "id": "0111835",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111835"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9XTN2-1",
            "uniprot_ac": "Q9XTN2",
            "uniprot_id": "IRS1_DROME",
            "refseq_ac": "NP_001188772",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Insulin receptor substrate 1",
                    "type": "recommended"
                },
                {
                    "name": "CG5686-PB",
                    "type": "synonym"
                },
                {
                    "name": "Protein chico",
                    "type": "synonym"
                },
                {
                    "name": "chico, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "chico-PB",
                    "type": "synonym"
                },
                {
                    "name": "dIRS",
                    "type": "synonym"
                },
                {
                    "name": "flipper",
                    "type": "synonym"
                },
                {
                    "name": "insulin receptor substrate",
                    "type": "synonym"
                },
                {
                    "name": "insulin-like receptor substrate",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "chico",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA.GH11263",
                    "type": "synonym"
                },
                {
                    "name": "BcDNA:GH11263",
                    "type": "synonym"
                },
                {
                    "name": "CG5686",
                    "type": "synonym"
                },
                {
                    "name": "CHICO",
                    "type": "synonym"
                },
                {
                    "name": "Chico/IRS",
                    "type": "synonym"
                },
                {
                    "name": "Chico",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5686",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5686",
                    "type": "synonym"
                },
                {
                    "name": "IRS/chico",
                    "type": "synonym"
                },
                {
                    "name": "IRS",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0078940.1",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0078940.4",
                    "type": "synonym"
                },
                {
                    "name": "chico",
                    "type": "synonym"
                },
                {
                    "name": "chic",
                    "type": "synonym"
                },
                {
                    "name": "dIRS",
                    "type": "synonym"
                },
                {
                    "name": "fs(2)4",
                    "type": "synonym"
                },
                {
                    "name": "fs(2)ry4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9XTN2-1",
            "evidence": [
                {
                    "id": "0111835",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111835"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111835"
}