{
    "disease_id": "DOID:0070125",
    "recommended_name": {
        "id": "DOID:0070125",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070125",
        "name": "congenital nongoitrous hypothyroidism 5",
        "description": "A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the NKX2-5 gene on chromosome 5q35."
    },
    "synonyms": [
        {
            "id": "DOID:0070125",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070125",
            "name": "CHNG5",
            "description": ""
        },
        {
            "id": "MONDO:0009154",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009154",
            "name": "hypothyroidism, congenital, nongoitrous, 5",
            "description": "Any hypothyroidism, congenital, nongoitrous in which the cause of the disease is a mutation in the NKX2-5 gene."
        },
        {
            "id": "MONDO:0009154",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009154",
            "name": "CHNG5",
            "description": ""
        },
        {
            "id": "MONDO:0009154",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009154",
            "name": "NKX2-5 hypothyroidism, congenital, nongoitrous",
            "description": ""
        },
        {
            "id": "MONDO:0009154",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009154",
            "name": "hypothyroidism, congenital nongoitrous, 5",
            "description": ""
        },
        {
            "id": "MONDO:0009154",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009154",
            "name": "hypothyroidism, congenital, nongoitrous caused by mutation in NKX2-5",
            "description": ""
        },
        {
            "id": "MONDO:0009154",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009154",
            "name": "hypothyroidism, congenital, nongoitrous, 5",
            "description": ""
        },
        {
            "id": "MONDO:0009154",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009154",
            "name": "hypothyroidism, congenital, nongoitrous, type 5",
            "description": ""
        },
        {
            "id": "MIM:225250",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/225250",
            "name": "Hypothyroidism, congenital, non-goitrous, 5",
            "description": "Hypothyroidism, congenital, non-goitrous, 5"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070125"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070125",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070125",
            "categories": []
        },
        {
            "id": "MONDO:0009154",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009154",
            "categories": []
        },
        {
            "id": "MIM:225250",
            "database": "MIM",
            "url": "https://www.omim.org/entry/225250",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8N7UZK3-1",
            "uniprot_ac": "A0A8N7UZK3",
            "uniprot_id": "A0A8N7UZK3_DANRE",
            "refseq_ac": "NP_571496",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeobox protein Nkx-2.5",
                    "type": "recommended"
                },
                {
                    "name": "Homeobox protein NK-2 homolog E",
                    "type": "synonym"
                },
                {
                    "name": "NK2 transcription factor related 5",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein Nkx-2.5",
                    "type": "synonym"
                },
                {
                    "name": "tinman homeobox homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "nkx2.5",
                    "type": "recommended"
                },
                {
                    "name": "nk2.5",
                    "type": "synonym"
                },
                {
                    "name": "nkx2-5",
                    "type": "synonym"
                },
                {
                    "name": "nkx2.5",
                    "type": "synonym"
                },
                {
                    "name": "sb:eu581",
                    "type": "synonym"
                },
                {
                    "name": "zgc:111912",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8N7UZK3-1",
            "evidence": [
                {
                    "id": "0070125",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070125"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P42582-1",
            "uniprot_ac": "P42582",
            "uniprot_id": "NKX25_MOUSE",
            "refseq_ac": "NP_032726",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeobox protein Nkx-2.5",
                    "type": "recommended"
                },
                {
                    "name": "Cardiac-specific homeobox",
                    "type": "synonym"
                },
                {
                    "name": "Drosophila NK2 transcription factor related, locus 5",
                    "type": "synonym"
                },
                {
                    "name": "Homeobox protein CSX",
                    "type": "synonym"
                },
                {
                    "name": "Homeobox protein NK-2 homolog E",
                    "type": "synonym"
                },
                {
                    "name": "cardiac-specific homeobox",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein CSX",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein NK-2 homolog E",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein Nkx-2.5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nkx2-5",
                    "type": "recommended"
                },
                {
                    "name": "Csx",
                    "type": "synonym"
                },
                {
                    "name": "Nkx-2.5",
                    "type": "synonym"
                },
                {
                    "name": "Nkx2-5",
                    "type": "synonym"
                },
                {
                    "name": "Nkx2.5",
                    "type": "synonym"
                },
                {
                    "name": "Nkx2e",
                    "type": "synonym"
                },
                {
                    "name": "tinman",
                    "type": "synonym"
                }
            ],
            "record_id": "P42582-1",
            "evidence": [
                {
                    "id": "0070125",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070125"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P52952-1",
            "uniprot_ac": "P52952",
            "uniprot_id": "NKX25_HUMAN",
            "refseq_ac": "NP_001159647",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeobox protein Nkx-2.5",
                    "type": "recommended"
                },
                {
                    "name": "Cardiac-specific homeobox",
                    "type": "synonym"
                },
                {
                    "name": "Homeobox protein CSX",
                    "type": "synonym"
                },
                {
                    "name": "Homeobox protein NK-2 homolog E",
                    "type": "synonym"
                },
                {
                    "name": "NK2 transcription factor related, locus 5",
                    "type": "synonym"
                },
                {
                    "name": "NKX 2-5",
                    "type": "synonym"
                },
                {
                    "name": "cardiac-specific homeobox 1",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein CSX",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein NK-2 homolog E",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein NKX 2-5",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein Nkx-2.5 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein Nkx-2.5",
                    "type": "synonym"
                },
                {
                    "name": "tinman homolog",
                    "type": "synonym"
                },
                {
                    "name": "tinman paralog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NKX2-5",
                    "type": "recommended"
                },
                {
                    "name": "CHNG5",
                    "type": "synonym"
                },
                {
                    "name": "CSX1",
                    "type": "synonym"
                },
                {
                    "name": "CSX",
                    "type": "synonym"
                },
                {
                    "name": "HLHS2",
                    "type": "synonym"
                },
                {
                    "name": "NKX2-5",
                    "type": "synonym"
                },
                {
                    "name": "NKX2.5",
                    "type": "synonym"
                },
                {
                    "name": "NKX2E",
                    "type": "synonym"
                },
                {
                    "name": "NKX4-1",
                    "type": "synonym"
                },
                {
                    "name": "VSD3",
                    "type": "synonym"
                }
            ],
            "record_id": "P52952-1",
            "evidence": [
                {
                    "id": "225250",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/225250"
                },
                {
                    "id": "0070125",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070125"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O35767-1",
            "uniprot_ac": "O35767",
            "uniprot_id": "NKX25_RAT",
            "refseq_ac": "NP_446103",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeobox protein Nkx-2.5",
                    "type": "recommended"
                },
                {
                    "name": "Homeobox protein NK-2 homolog E",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein NK-2 homolog E",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein Nkx-2.5",
                    "type": "synonym"
                },
                {
                    "name": "rNKx-2.5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nkx2-5",
                    "type": "recommended"
                },
                {
                    "name": "Csx",
                    "type": "synonym"
                },
                {
                    "name": "Nkx-2.5",
                    "type": "synonym"
                },
                {
                    "name": "Nkx2-5",
                    "type": "synonym"
                },
                {
                    "name": "Nkx2.5",
                    "type": "synonym"
                },
                {
                    "name": "Nkx2e",
                    "type": "synonym"
                }
            ],
            "record_id": "O35767-1",
            "evidence": [
                {
                    "id": "0070125",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070125"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P49621-1",
            "uniprot_ac": "P49621",
            "uniprot_id": "DGKB_RAT",
            "refseq_ac": "NP_062177",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Diacylglycerol kinase beta",
                    "type": "recommended"
                },
                {
                    "name": "2.7.1.107",
                    "type": "synonym"
                },
                {
                    "name": "90 kDa diacylglycerol kinase",
                    "type": "synonym"
                },
                {
                    "name": "DAG kinase beta",
                    "type": "synonym"
                },
                {
                    "name": "DGK-beta",
                    "type": "synonym"
                },
                {
                    "name": "Diacylglycerol kinase 90kDa",
                    "type": "synonym"
                },
                {
                    "name": "Diglyceride kinase beta",
                    "type": "synonym"
                },
                {
                    "name": "diacylglycerol kinase beta, 90kDa",
                    "type": "synonym"
                },
                {
                    "name": "diacylglycerol kinase beta",
                    "type": "synonym"
                },
                {
                    "name": "diglyceride kinase beta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dgkb",
                    "type": "recommended"
                },
                {
                    "name": "DGK-beta",
                    "type": "synonym"
                },
                {
                    "name": "Dagk2",
                    "type": "synonym"
                },
                {
                    "name": "Dagk",
                    "type": "synonym"
                },
                {
                    "name": "Dgkb",
                    "type": "synonym"
                }
            ],
            "record_id": "P49621-1",
            "evidence": [
                {
                    "id": "0070125",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070125"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070125"
}