{
    "disease_id": "DOID:0111073",
    "recommended_name": {
        "id": "DOID:0111073",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111073",
        "name": "progressive familial heart block",
        "description": "A heart conduction disease characterized by autosomal dominant inheritance of a cardiac conduction defect that may progress to complete atrioventricular (AV) block and maybe asymptomatic of manifest as shortness of breath, dizziness, syncope, abdominal pain, heart failure or sudden death."
    },
    "synonyms": [
        {
            "id": "DOID:0111073",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111073",
            "name": "PFHB",
            "description": ""
        },
        {
            "id": "DOID:0111073",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111073",
            "name": "familial Lenegre disease",
            "description": ""
        },
        {
            "id": "DOID:0111073",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111073",
            "name": "familial Lev disease",
            "description": ""
        },
        {
            "id": "DOID:0111073",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111073",
            "name": "familial Lev-Lenegre disease",
            "description": ""
        },
        {
            "id": "DOID:0111073",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111073",
            "name": "familial PCCD",
            "description": ""
        },
        {
            "id": "DOID:0111073",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111073",
            "name": "familial progressive heart block",
            "description": ""
        },
        {
            "id": "DOID:0111073",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111073",
            "name": "hereditary bundle branch defect",
            "description": ""
        },
        {
            "id": "MONDO:0007240",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007240",
            "name": "progressive familial heart block, type 1A",
            "description": "An autosomal dominant inherited cardiac bundle branch disorder which can progress to complete heart block."
        },
        {
            "id": "MONDO:0007240",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007240",
            "name": "Lenegre's disease",
            "description": ""
        },
        {
            "id": "MONDO:0007240",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007240",
            "name": "PFHB1A",
            "description": ""
        },
        {
            "id": "MONDO:0007240",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007240",
            "name": "SCN5A progressive familial heart block",
            "description": ""
        },
        {
            "id": "MONDO:0007240",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007240",
            "name": "heart block, progressive, type IA",
            "description": ""
        },
        {
            "id": "MONDO:0007240",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007240",
            "name": "progressive familial heart block caused by mutation in SCN5A",
            "description": ""
        },
        {
            "id": "MONDO:0007240",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007240",
            "name": "progressive familial heart block, type IA",
            "description": ""
        },
        {
            "id": "MONDO:0007240",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007240",
            "name": "Lenegre disease",
            "description": ""
        },
        {
            "id": "MONDO:0007240",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007240",
            "name": "Lenegre's syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007240",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007240",
            "name": "Lev disease",
            "description": ""
        },
        {
            "id": "MONDO:0007240",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007240",
            "name": "heart block progressive familial type 1",
            "description": ""
        },
        {
            "id": "MONDO:0007240",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007240",
            "name": "progressive familial heart block type 1A",
            "description": ""
        },
        {
            "id": "MONDO:0100042",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100042",
            "name": "cardiac conduction defect",
            "description": ""
        },
        {
            "id": "MONDO:0100042",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100042",
            "name": "cardiac conduction disorder",
            "description": ""
        },
        {
            "id": "MONDO:0100042",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100042",
            "name": "conduction disorder",
            "description": ""
        },
        {
            "id": "MONDO:0100042",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100042",
            "name": "disorder of cardiac conduction",
            "description": ""
        },
        {
            "id": "MONDO:0100042",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100042",
            "name": "heart conduction disorder",
            "description": ""
        },
        {
            "id": "MIM:113900",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/113900",
            "name": "Progressive familial heart block 1A",
            "description": "Progressive familial heart block 1A"
        }
    ],
    "children": [
        {
            "id": "DOID:0111074",
            "label": "progressive familial heart block type IA",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111076",
            "label": "progressive familial heart block type IB",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0111074",
        "DOID:0111073",
        "DOID:0111076"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111073",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111073",
            "categories": []
        },
        {
            "id": "MONDO:0007240",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007240",
            "categories": []
        },
        {
            "id": "MONDO:0100042",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100042",
            "categories": []
        },
        {
            "id": "MIM:113900",
            "database": "MIM",
            "url": "https://www.omim.org/entry/113900",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q14524-1",
            "uniprot_ac": "Q14524",
            "uniprot_id": "SCN5A_HUMAN",
            "refseq_ac": "NP_001153632",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium channel protein type 5 subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "Sodium channel protein cardiac muscle subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "Sodium channel protein type V subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated sodium channel subunit alpha Nav1.5",
                    "type": "synonym"
                },
                {
                    "name": "cardiac tetrodotoxin-insensitive voltage-dependent sodium channel alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "hH1",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel protein cardiac muscle subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel protein type 5 subunit alpha isoform e",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel protein type 5 subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel, voltage-gated, type V, alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated sodium channel subunit alpha Nav1.5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SCN5A",
                    "type": "recommended"
                },
                {
                    "name": "CDCD2",
                    "type": "synonym"
                },
                {
                    "name": "CMD1E",
                    "type": "synonym"
                },
                {
                    "name": "CMPD2",
                    "type": "synonym"
                },
                {
                    "name": "HB1",
                    "type": "synonym"
                },
                {
                    "name": "HB2",
                    "type": "synonym"
                },
                {
                    "name": "HBBD",
                    "type": "synonym"
                },
                {
                    "name": "HH1",
                    "type": "synonym"
                },
                {
                    "name": "ICCD",
                    "type": "synonym"
                },
                {
                    "name": "IVF",
                    "type": "synonym"
                },
                {
                    "name": "LQT3",
                    "type": "synonym"
                },
                {
                    "name": "Nav1.5",
                    "type": "synonym"
                },
                {
                    "name": "PFHB1",
                    "type": "synonym"
                },
                {
                    "name": "SCN5A",
                    "type": "synonym"
                },
                {
                    "name": "SSS1",
                    "type": "synonym"
                },
                {
                    "name": "VF1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q14524-1",
            "evidence": [
                {
                    "id": "113900",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/113900"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111073"
}