{
    "disease_id": "DOID:0081157",
    "recommended_name": {
        "id": "DOID:0081157",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081157",
        "name": "dilated cardiomyopathy 1LL",
        "description": "A dilated cardiomyopathy that has_material_basis_in heterozygous mutation in the PRDM16 gene on chromosome 1p36."
    },
    "synonyms": [
        {
            "id": "MONDO:0014152",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014152",
            "name": "left ventricular noncompaction 8",
            "description": "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PRDM16 gene."
        },
        {
            "id": "MONDO:0014152",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014152",
            "name": "PRDM16 familial isolated dilated cardiomyopathy",
            "description": ""
        },
        {
            "id": "MONDO:0014152",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014152",
            "name": "familial isolated dilated cardiomyopathy caused by mutation in PRDM16",
            "description": ""
        },
        {
            "id": "MONDO:0014152",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014152",
            "name": "left ventricular noncompaction 8",
            "description": ""
        },
        {
            "id": "MONDO:0014152",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014152",
            "name": "left ventricular noncompaction type 8",
            "description": ""
        },
        {
            "id": "MONDO:0014152",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014152",
            "name": "LVNC8",
            "description": ""
        },
        {
            "id": "MIM:615373",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615373",
            "name": "Left ventricular non-compaction 8",
            "description": "Left ventricular non-compaction 8"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081157"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081157",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081157",
            "categories": []
        },
        {
            "id": "MONDO:0014152",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014152",
            "categories": []
        },
        {
            "id": "MIM:615373",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615373",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9QEA0-1",
            "uniprot_ac": "A0A8M9QEA0",
            "uniprot_id": "A0A8M9QEA0_DANRE",
            "refseq_ac": "XP_021334166",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Histone-lysine N-methyltransferase PRDM16 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "histone-lysine N-methyltransferase PRDM16 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "prdm16",
                    "type": "recommended"
                },
                {
                    "name": "prdm16",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9QEA0-1",
            "evidence": [
                {
                    "id": "0081157",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081157"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A2A935-1",
            "uniprot_ac": "A2A935",
            "uniprot_id": "PRD16_MOUSE",
            "refseq_ac": "NP_001277955",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Histone-lysine N-methyltransferase PRDM16",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.367",
                    "type": "synonym"
                },
                {
                    "name": "MDS1/EVI1-like gene 1",
                    "type": "synonym"
                },
                {
                    "name": "PR domain zinc finger protein 16",
                    "type": "synonym"
                },
                {
                    "name": "PR domain-containing protein 16",
                    "type": "synonym"
                },
                {
                    "name": "Transcription factor MEL1",
                    "type": "synonym"
                },
                {
                    "name": "histone-lysine N-methyltransferase PRDM16 isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "histone-lysine N-methyltransferase PRDM16",
                    "type": "synonym"
                },
                {
                    "name": "line 27",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor MEL1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Prdm16",
                    "type": "recommended"
                },
                {
                    "name": "5730557K01Rik",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa1675",
                    "type": "synonym"
                },
                {
                    "name": "Mel1",
                    "type": "synonym"
                },
                {
                    "name": "Prdm16",
                    "type": "synonym"
                },
                {
                    "name": "csp1",
                    "type": "synonym"
                },
                {
                    "name": "mel1",
                    "type": "synonym"
                }
            ],
            "record_id": "A2A935-1",
            "evidence": [
                {
                    "id": "0081157",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081157"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9HAZ2-1",
            "uniprot_ac": "Q9HAZ2",
            "uniprot_id": "PRD16_HUMAN",
            "refseq_ac": "NP_071397",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Histone-lysine N-methyltransferase PRDM16",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.367",
                    "type": "synonym"
                },
                {
                    "name": "MDS1/EVI1-like gene 1",
                    "type": "synonym"
                },
                {
                    "name": "PR domain 16",
                    "type": "synonym"
                },
                {
                    "name": "PR domain containing 16",
                    "type": "synonym"
                },
                {
                    "name": "PR domain zinc finger protein 16",
                    "type": "synonym"
                },
                {
                    "name": "PR domain-containing protein 16",
                    "type": "synonym"
                },
                {
                    "name": "Transcription factor MEL1",
                    "type": "synonym"
                },
                {
                    "name": "histone-lysine N-methyltransferase PRDM16 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "histone-lysine N-methyltransferase PRDM16",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor MEL1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PRDM16",
                    "type": "recommended"
                },
                {
                    "name": "CMD1LL",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1675",
                    "type": "synonym"
                },
                {
                    "name": "KMT8F",
                    "type": "synonym"
                },
                {
                    "name": "LVNC8",
                    "type": "synonym"
                },
                {
                    "name": "MEL1",
                    "type": "synonym"
                },
                {
                    "name": "PFM13",
                    "type": "synonym"
                },
                {
                    "name": "PRDM16",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9HAZ2-1",
            "evidence": [
                {
                    "id": "615373",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615373"
                },
                {
                    "id": "0081157",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081157"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A096MJ70-1",
            "uniprot_ac": "A0A096MJ70",
            "uniprot_id": "A0A096MJ70_RAT",
            "refseq_ac": "XP_038967290",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "[histone H3]-lysine(9) N-methyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.367",
                    "type": "synonym"
                },
                {
                    "name": "histone-lysine N-methyltransferase PRDM16 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Prdm16",
                    "type": "recommended"
                },
                {
                    "name": "Prdm16",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A096MJ70-1",
            "evidence": [
                {
                    "id": "0081157",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081157"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8I7Z8-1",
            "uniprot_ac": "Q8I7Z8",
            "uniprot_id": "HAM_DROME",
            "refseq_ac": "NP_001246081",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription factor hamlet",
                    "type": "recommended"
                },
                {
                    "name": "CG31753-PB",
                    "type": "synonym"
                },
                {
                    "name": "ham-PB",
                    "type": "synonym"
                },
                {
                    "name": "hamlet, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "hamlet",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ham",
                    "type": "recommended"
                },
                {
                    "name": "CG10568",
                    "type": "synonym"
                },
                {
                    "name": "CG15906",
                    "type": "synonym"
                },
                {
                    "name": "CG15907",
                    "type": "synonym"
                },
                {
                    "name": "CG31753",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG31753",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG31753",
                    "type": "synonym"
                },
                {
                    "name": "HAM_DROME",
                    "type": "synonym"
                },
                {
                    "name": "Ham",
                    "type": "synonym"
                },
                {
                    "name": "ham",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8I7Z8-1",
            "evidence": [
                {
                    "id": "0081157",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081157"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081157"
}