{
    "disease_id": "DOID:0111076",
    "recommended_name": {
        "id": "DOID:0111076",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111076",
        "name": "progressive familial heart block type IB",
        "description": "A progressive familial heart block characterized by that has_material_basis_in heterozygous mutation in the TRPM4 gene on chromosome 19q13."
    },
    "synonyms": [
        {
            "id": "DOID:0111076",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111076",
            "name": "PFHB1B",
            "description": ""
        },
        {
            "id": "MONDO:0011474",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011474",
            "name": "progressive familial heart block type IB",
            "description": "Any progressive familial heart block in which the cause of the disease is a mutation in the TRPM4 gene."
        },
        {
            "id": "MONDO:0011474",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011474",
            "name": "PFHB1B",
            "description": ""
        },
        {
            "id": "MONDO:0011474",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011474",
            "name": "TRPM4 progressive familial heart block",
            "description": ""
        },
        {
            "id": "MONDO:0011474",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011474",
            "name": "progressive familial heart block caused by mutation in TRPM4",
            "description": ""
        },
        {
            "id": "MONDO:0011474",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011474",
            "name": "heart block progressive familial type 1B",
            "description": ""
        },
        {
            "id": "MONDO:0011474",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011474",
            "name": "progressive familial heart block type 1B",
            "description": ""
        },
        {
            "id": "MONDO:0011474",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011474",
            "name": "progressive familial heart block, type IB",
            "description": ""
        },
        {
            "id": "MIM:604559",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/604559",
            "name": "Progressive familial heart block 1B",
            "description": "Progressive familial heart block 1B"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111076"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111076",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111076",
            "categories": []
        },
        {
            "id": "MONDO:0011474",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011474",
            "categories": []
        },
        {
            "id": "MIM:604559",
            "database": "MIM",
            "url": "https://www.omim.org/entry/604559",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M3AY04-1",
            "uniprot_ac": "A0A8M3AY04",
            "uniprot_id": "A0A8M3AY04_DANRE",
            "refseq_ac": "XP_009304689",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transient receptor potential cation channel subfamily M member 4 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "transient receptor potential cation channel subfamily M member 4 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "trpm4b.1",
                    "type": "recommended"
                },
                {
                    "name": "trpm4b.1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3AY04-1",
            "evidence": [
                {
                    "id": "0111076",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111076"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M1P6E5-1",
            "uniprot_ac": "A0A8M1P6E5",
            "uniprot_id": "A0A8M1P6E5_DANRE",
            "refseq_ac": "NP_001275744",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transient receptor potential cation channel subfamily M member 4a",
                    "type": "synonym"
                },
                {
                    "name": "transient receptor potential cation channel subfamily M member 4a",
                    "type": "synonym"
                },
                {
                    "name": "transient receptor potential cation channel, subfamily M, member 4",
                    "type": "synonym"
                },
                {
                    "name": "transient receptor potential melastatin 4a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "trpm4a",
                    "type": "recommended"
                },
                {
                    "name": "sb:eu515",
                    "type": "synonym"
                },
                {
                    "name": "trpm4a",
                    "type": "synonym"
                },
                {
                    "name": "trpm4",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1P6E5-1",
            "evidence": [
                {
                    "id": "0111076",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111076"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7TN37-1",
            "uniprot_ac": "Q7TN37",
            "uniprot_id": "TRPM4_MOUSE",
            "refseq_ac": "NP_780339",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transient receptor potential cation channel subfamily M member 4",
                    "type": "recommended"
                },
                {
                    "name": "Calcium-activated non-selective cation channel 1",
                    "type": "synonym"
                },
                {
                    "name": "LTrpC-4",
                    "type": "synonym"
                },
                {
                    "name": "LTrpC4",
                    "type": "synonym"
                },
                {
                    "name": "Long transient receptor potential channel 4",
                    "type": "synonym"
                },
                {
                    "name": "calcium-activated non-selective cation channel 1",
                    "type": "synonym"
                },
                {
                    "name": "long transient receptor potential channel 4",
                    "type": "synonym"
                },
                {
                    "name": "transient receptor potential cation channel subfamily M member 4 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "transient receptor potential ion channel melastatin subgroup member 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Trpm4",
                    "type": "recommended"
                },
                {
                    "name": "1110030C19Rik",
                    "type": "synonym"
                },
                {
                    "name": "LTRPC4",
                    "type": "synonym"
                },
                {
                    "name": "LTrpC-4",
                    "type": "synonym"
                },
                {
                    "name": "Ltrpc4",
                    "type": "synonym"
                },
                {
                    "name": "TRPM4B",
                    "type": "synonym"
                },
                {
                    "name": "Trpm4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7TN37-1",
            "evidence": [
                {
                    "id": "0111076",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111076"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8TD43-1",
            "uniprot_ac": "Q8TD43",
            "uniprot_id": "TRPM4_HUMAN",
            "refseq_ac": "NP_001182156",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transient receptor potential cation channel subfamily M member 4",
                    "type": "recommended"
                },
                {
                    "name": "Calcium-activated non-selective cation channel 1",
                    "type": "synonym"
                },
                {
                    "name": "LTrpC-4",
                    "type": "synonym"
                },
                {
                    "name": "LTrpC4",
                    "type": "synonym"
                },
                {
                    "name": "Long transient receptor potential channel 4",
                    "type": "synonym"
                },
                {
                    "name": "Melastatin-4",
                    "type": "synonym"
                },
                {
                    "name": "calcium-activated non-selective cation channel 1",
                    "type": "synonym"
                },
                {
                    "name": "hTRPM4",
                    "type": "synonym"
                },
                {
                    "name": "long transient receptor potential channel 4",
                    "type": "synonym"
                },
                {
                    "name": "melastatin-4",
                    "type": "synonym"
                },
                {
                    "name": "transient receptor potential cation channel subfamily M member 4 isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TRPM4",
                    "type": "recommended"
                },
                {
                    "name": "EKVP6",
                    "type": "synonym"
                },
                {
                    "name": "LTRPC4",
                    "type": "synonym"
                },
                {
                    "name": "LTrpC4",
                    "type": "synonym"
                },
                {
                    "name": "PFHB1B",
                    "type": "synonym"
                },
                {
                    "name": "TRPM4B",
                    "type": "synonym"
                },
                {
                    "name": "TRPM4",
                    "type": "synonym"
                },
                {
                    "name": "hTRPM4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8TD43-1",
            "evidence": [
                {
                    "id": "604559",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/604559"
                },
                {
                    "id": "0111076",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111076"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9ESQ5-1",
            "uniprot_ac": "Q9ESQ5",
            "uniprot_id": "TRPM4_RAT",
            "refseq_ac": "NP_001129701",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transient receptor potential cation channel subfamily M member 4",
                    "type": "recommended"
                },
                {
                    "name": "Calcium-activated non-selective cation channel 1",
                    "type": "synonym"
                },
                {
                    "name": "LTrpC-4",
                    "type": "synonym"
                },
                {
                    "name": "LTrpC4",
                    "type": "synonym"
                },
                {
                    "name": "Long transient receptor potential channel 4",
                    "type": "synonym"
                },
                {
                    "name": "MLS2s",
                    "type": "synonym"
                },
                {
                    "name": "Melastatin-like 2",
                    "type": "synonym"
                },
                {
                    "name": "calcium-activated non-selective cation channel 1",
                    "type": "synonym"
                },
                {
                    "name": "long transient receptor potential channel 4",
                    "type": "synonym"
                },
                {
                    "name": "melastatin like 2 protein",
                    "type": "synonym"
                },
                {
                    "name": "melastatin-like 2",
                    "type": "synonym"
                },
                {
                    "name": "transient receptor potential cation channel subfamily M member 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Trpm4",
                    "type": "recommended"
                },
                {
                    "name": "LTrpC-4",
                    "type": "synonym"
                },
                {
                    "name": "Ltrpc4",
                    "type": "synonym"
                },
                {
                    "name": "Mls2s",
                    "type": "synonym"
                },
                {
                    "name": "Trpm4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9ESQ5-1",
            "evidence": [
                {
                    "id": "0111076",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111076"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111076"
}