{
    "disease_id": "DOID:0070124",
    "recommended_name": {
        "id": "DOID:0070124",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070124",
        "name": "congenital nongoitrous hypothyroidism 2",
        "description": "A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the PAX8 gene on chromosome 2q13."
    },
    "synonyms": [
        {
            "id": "DOID:0070124",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070124",
            "name": "CHNG2",
            "description": ""
        },
        {
            "id": "DOID:0070124",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070124",
            "name": "congenital hypothyroidism due to thyroid dysgenesis or hypoplasia",
            "description": ""
        },
        {
            "id": "MONDO:0024264",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024264",
            "name": "hypothyroidism, congenital, nongoitrous, 2",
            "description": "A congenital hypothyroidism that has material basis in heterozygous mutation in the PAX8 gene on chromosome 2q13."
        },
        {
            "id": "MONDO:0024264",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024264",
            "name": "CHNG2",
            "description": ""
        },
        {
            "id": "MONDO:0024264",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024264",
            "name": "hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia",
            "description": ""
        },
        {
            "id": "MONDO:0024264",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024264",
            "name": "hypothyroidism, congenital, nongoitrous, 2",
            "description": ""
        },
        {
            "id": "MIM:218700",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/218700",
            "name": "Hypothyroidism, congenital, non-goitrous, 2",
            "description": "Hypothyroidism, congenital, non-goitrous, 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070124"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070124",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070124",
            "categories": []
        },
        {
            "id": "MONDO:0024264",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024264",
            "categories": []
        },
        {
            "id": "MIM:218700",
            "database": "MIM",
            "url": "https://www.omim.org/entry/218700",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q00288-1",
            "uniprot_ac": "Q00288",
            "uniprot_id": "PAX8_MOUSE",
            "refseq_ac": "NP_035170",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Paired box protein Pax-8",
                    "type": "recommended"
                },
                {
                    "name": "paired box gene 8",
                    "type": "synonym"
                },
                {
                    "name": "paired box protein Pax-8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pax8",
                    "type": "recommended"
                },
                {
                    "name": "Pax-8",
                    "type": "synonym"
                },
                {
                    "name": "Pax8",
                    "type": "synonym"
                }
            ],
            "record_id": "Q00288-1",
            "evidence": [
                {
                    "id": "0070124",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070124"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q06710-1",
            "uniprot_ac": "Q06710",
            "uniprot_id": "PAX8_HUMAN",
            "refseq_ac": "NP_003457",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Paired box protein Pax-8",
                    "type": "recommended"
                },
                {
                    "name": "paired box protein Pax-8 isoform PAX8A",
                    "type": "synonym"
                },
                {
                    "name": "paired box protein Pax-8",
                    "type": "synonym"
                },
                {
                    "name": "paired domain gene 8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PAX8",
                    "type": "recommended"
                },
                {
                    "name": "PAX-8",
                    "type": "synonym"
                },
                {
                    "name": "PAX8",
                    "type": "synonym"
                }
            ],
            "record_id": "Q06710-1",
            "evidence": [
                {
                    "id": "218700",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/218700"
                },
                {
                    "id": "0070124",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070124"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P51974-1",
            "uniprot_ac": "P51974",
            "uniprot_id": "PAX8_RAT",
            "refseq_ac": "NP_112403",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Paired box protein Pax-8",
                    "type": "recommended"
                },
                {
                    "name": "Pax-8 protein",
                    "type": "synonym"
                },
                {
                    "name": "paired box gene 8",
                    "type": "synonym"
                },
                {
                    "name": "paired box protein Pax-8 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "paired box protein Pax-8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pax8",
                    "type": "recommended"
                },
                {
                    "name": "Pax-8",
                    "type": "synonym"
                },
                {
                    "name": "Pax8",
                    "type": "synonym"
                }
            ],
            "record_id": "P51974-1",
            "evidence": [
                {
                    "id": "0070124",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070124"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O16117-1",
            "uniprot_ac": "O16117",
            "uniprot_id": "O16117_DROME",
            "refseq_ac": "NP_524633",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG11049-PA",
                    "type": "synonym"
                },
                {
                    "name": "Shaven, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "cataract",
                    "type": "synonym"
                },
                {
                    "name": "shaven, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "shaven",
                    "type": "synonym"
                },
                {
                    "name": "sparklin poliert",
                    "type": "synonym"
                },
                {
                    "name": "sparkling poliert",
                    "type": "synonym"
                },
                {
                    "name": "sv-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "sv",
                    "type": "recommended"
                },
                {
                    "name": "8",
                    "type": "synonym"
                },
                {
                    "name": "CG11049",
                    "type": "synonym"
                },
                {
                    "name": "Cat",
                    "type": "synonym"
                },
                {
                    "name": "D-Pax2",
                    "type": "synonym"
                },
                {
                    "name": "D-pax-2",
                    "type": "synonym"
                },
                {
                    "name": "D-pax2",
                    "type": "synonym"
                },
                {
                    "name": "DPax-2",
                    "type": "synonym"
                },
                {
                    "name": "DPax2",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG11049",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG11049",
                    "type": "synonym"
                },
                {
                    "name": "Dpax-2",
                    "type": "synonym"
                },
                {
                    "name": "Dpax2",
                    "type": "synonym"
                },
                {
                    "name": "I",
                    "type": "synonym"
                },
                {
                    "name": "PAX2",
                    "type": "synonym"
                },
                {
                    "name": "Pax2/5/8",
                    "type": "synonym"
                },
                {
                    "name": "Pax258",
                    "type": "synonym"
                },
                {
                    "name": "Pax2",
                    "type": "synonym"
                },
                {
                    "name": "Sv",
                    "type": "synonym"
                },
                {
                    "name": "d-Pax2",
                    "type": "synonym"
                },
                {
                    "name": "dPax258",
                    "type": "synonym"
                },
                {
                    "name": "dPax2",
                    "type": "synonym"
                },
                {
                    "name": "en(lz)4G/I",
                    "type": "synonym"
                },
                {
                    "name": "l(4)40",
                    "type": "synonym"
                },
                {
                    "name": "pax2/sparkling",
                    "type": "synonym"
                },
                {
                    "name": "pol",
                    "type": "synonym"
                },
                {
                    "name": "shaven/sparkling",
                    "type": "synonym"
                },
                {
                    "name": "spa-sv",
                    "type": "synonym"
                },
                {
                    "name": "sparkling",
                    "type": "synonym"
                },
                {
                    "name": "spa",
                    "type": "synonym"
                },
                {
                    "name": "sv",
                    "type": "synonym"
                }
            ],
            "record_id": "O16117-1",
            "evidence": [
                {
                    "id": "0070124",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070124"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070124"
}