{
    "disease_id": "DOID:0050820",
    "recommended_name": {
        "id": "DOID:0050820",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050820",
        "name": "atrioventricular block",
        "description": "A heart conduction disease that is characterized by the impairment of the conduction between the atria and ventricles of the heart."
    },
    "synonyms": [
        {
            "id": "DOID:0050820",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050820",
            "name": "AV block",
            "description": ""
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050820"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050820",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050820",
            "categories": []
        }
    ],
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            "uniprot_ac": "A0A8N7UZK3",
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                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
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                }
            ],
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                    "name": "Homeobox protein NK-2 homolog E",
                    "type": "synonym"
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                    "type": "synonym"
                },
                {
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                {
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                {
                    "name": "nkx2-5",
                    "type": "synonym"
                },
                {
                    "name": "nkx2.5",
                    "type": "synonym"
                },
                {
                    "name": "sb:eu581",
                    "type": "synonym"
                },
                {
                    "name": "zgc:111912",
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                }
            ],
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                }
            ]
        },
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                }
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                    "name": "Dhe",
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                    "name": "Lmn1",
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                {
                    "name": "Lmna",
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            ],
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                {
                    "id": "0050820",
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            ]
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                    "id": "0050820",
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                {
                    "name": "Homeobox protein NK-2 homolog E",
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                {
                    "name": "homeobox protein NK-2 homolog E",
                    "type": "synonym"
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                {
                    "name": "homeobox protein Nkx-2.5",
                    "type": "synonym"
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                    "type": "synonym"
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                    "name": "Csx",
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                    "name": "Nkx2-5",
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                    "name": "Nkx2e",
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                    "id": "0050820",
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                    "name": "90 kDa diacylglycerol kinase",
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                    "name": "Diacylglycerol kinase 90kDa",
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                    "name": "diacylglycerol kinase beta, 90kDa",
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                    "name": "diacylglycerol kinase beta",
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                    "name": "diglyceride kinase beta",
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                    "name": "Dagk2",
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                    "name": "lamin Dmo",
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                    "name": "lethal(2)25Ec",
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                    "name": "misrouted",
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                {
                    "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": "0050820",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050820"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P02545-1",
            "uniprot_ac": "P02545",
            "uniprot_id": "LMNA_HUMAN",
            "refseq_ac": "NP_001244303",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Prelamin-A/C",
                    "type": "recommended"
                },
                {
                    "name": "70 kDa lamin",
                    "type": "synonym"
                },
                {
                    "name": "Renal carcinoma antigen NY-REN-32",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                },
                {
                    "name": "lamin A/C-like 1",
                    "type": "synonym"
                },
                {
                    "name": "lamin C",
                    "type": "synonym"
                },
                {
                    "name": "lamin isoform D",
                    "type": "synonym"
                },
                {
                    "name": "mandibuloacral dysplasia type A",
                    "type": "synonym"
                },
                {
                    "name": "prelamin-A/C",
                    "type": "synonym"
                },
                {
                    "name": "progerin",
                    "type": "synonym"
                },
                {
                    "name": "renal carcinoma antigen NY-REN-32",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LMNA",
                    "type": "recommended"
                },
                {
                    "name": "CDCD1",
                    "type": "synonym"
                },
                {
                    "name": "CDDC",
                    "type": "synonym"
                },
                {
                    "name": "CMD1A",
                    "type": "synonym"
                },
                {
                    "name": "CMT2B1",
                    "type": "synonym"
                },
                {
                    "name": "EMD2",
                    "type": "synonym"
                },
                {
                    "name": "FPLD2",
                    "type": "synonym"
                },
                {
                    "name": "FPLD",
                    "type": "synonym"
                },
                {
                    "name": "FPL",
                    "type": "synonym"
                },
                {
                    "name": "HGPS",
                    "type": "synonym"
                },
                {
                    "name": "IDC",
                    "type": "synonym"
                },
                {
                    "name": "LDP1",
                    "type": "synonym"
                },
                {
                    "name": "LFP",
                    "type": "synonym"
                },
                {
                    "name": "LGMD1B",
                    "type": "synonym"
                },
                {
                    "name": "LMN1",
                    "type": "synonym"
                },
                {
                    "name": "LMNA",
                    "type": "synonym"
                },
                {
                    "name": "LMNC",
                    "type": "synonym"
                },
                {
                    "name": "LMNL1",
                    "type": "synonym"
                },
                {
                    "name": "MADA",
                    "type": "synonym"
                },
                {
                    "name": "PRO1",
                    "type": "synonym"
                }
            ],
            "record_id": "P02545-1",
            "evidence": [
                {
                    "id": "0050820",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050820"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050820"
}