{
    "disease_id": "DOID:0051044",
    "recommended_name": {
        "id": "DOID:0051044",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0051044",
        "name": "infantile-onset myofibrillar myopathy 12 with cardiomyopathy",
        "description": "A myofibrillar myopathy that is characterized by tremor or clonus at birth, followed by onset of rapidly progressive generalized muscle weakness and dilated cardiomyopathy and cardiac failure and that has_material_basis_in homozygous or compound heterozygous mutation in the MYL2 gene on chromosome 12q23."
    },
    "synonyms": [
        {
            "id": "MONDO:0859168",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859168",
            "name": "myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy",
            "description": ""
        },
        {
            "id": "MIM:619424",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619424",
            "name": "Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy",
            "description": "Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0051044"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0051044",
            "database": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0051044",
            "categories": []
        },
        {
            "id": "MONDO:0859168",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859168",
            "categories": []
        },
        {
            "id": "MIM:619424",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619424",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P18432-1",
            "uniprot_ac": "P18432",
            "uniprot_id": "MLR_DROME",
            "refseq_ac": "NP_524586",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myosin regulatory light chain 2",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "CG2184-PA; Mlc2-PA; myosin LC2; muscle-specific myosin regulatory light chain; myosin light Chain-2; myosin alkali light chain 2; myosin light-chain 2; myosin II; myosin II regulatory light chain; myosin light chain",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "MLC-2",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "myosin light chain 2",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mlc2",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "CG2184; Dmel\\CG2184; Dmlc; dMLC-2; Dmlc2; DmMLC2; dro MLC-2; Ifm(3)99Eb; l(3)99Eb; LC2; MLC; MLC 2; mlc-2; MLC-2; mlc2; MLC2; MRLC; MYL2; myosin; Myosin; p-MLC; RLC; RLC1; RLC2",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "CG2184",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Mlc2",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0051044",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051044"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P51667-1",
            "uniprot_ac": "P51667",
            "uniprot_id": "MLRV_MOUSE",
            "refseq_ac": "NP_034991",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myosin regulatory light chain 2, ventricular/cardiac muscle isoform",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "MLC-2s/v",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "MLC-2v",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "MLC-2",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Myosin light chain 2, slow skeletal/ventricular muscle isoform",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "myosin light chain 2v; myosin light chain, phosphorylatable, cardiac ventricles",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "myosin regulatory light chain 2, ventricular/cardiac muscle isoform isoform 1",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Myl2",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Gm32672; MLC-2; MLC-2s/v; MLC-2v; Mlc2v; Mylpc",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Myl2",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Mylpc",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0051044",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051044"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q06580-1",
            "uniprot_ac": "Q06580",
            "uniprot_id": "MLC2_YEAST",
            "refseq_ac": "NP_015514",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myosin light chain 2",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Calmodulin-like myosin light chain MLC2",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "MYO1 light chain 2",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Mlc2p",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Myosin-1 light chain",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MLC2",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "MLC2",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "P9677.10",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0051044",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051044"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P10916-1",
            "uniprot_ac": "P10916",
            "uniprot_id": "MLRV_HUMAN",
            "refseq_ac": "NP_000423",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myosin regulatory light chain 2, ventricular/cardiac muscle isoform",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Cardiac myosin light chain 2",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "MLC-2s/v",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "MLC-2v",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "MLC-2",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Myosin light chain 2, slow skeletal/ventricular muscle isoform",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Ventricular myosin light chain 2",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "myosin regulatory light chain 2, ventricular/cardiac muscle isoform isoform 1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "myosin, light polypeptide 2, regulatory, cardiac, slow; slow cardiac myosin regulatory light chain 2; T160D myosin regulatory light chain 2; cardiac ventricular myosin light chain 2; regulatory light chain of myosin; RLC of myosin; cardiac myosin light chain 2; myosin, light chain 2, regulatory, cardiac, slow; S15D myosin regulatory light chain 2",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MYL2",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "CMH10; MFM12; MLC-2; MLC-2s/v; MLC-2v; MLC2",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "MLC2",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "MYL2",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "hCG_40212",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0051044",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051044"
                },
                {
                    "id": "619424",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619424"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E7FG54-1",
            "uniprot_ac": "E7FG54",
            "uniprot_id": "E7FG54_DANRE",
            "refseq_ac": "NP_001373733",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myosin regulatory light chain 2a",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Myosin, light chain 2a, regulatory, cardiac, slow",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "myosin regulatory light chain 2a",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "myl2a",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "mlc2a; myl2",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "mlc2a",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "myl2a",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "myl2",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0051044",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051044"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q24JV6-1",
            "uniprot_ac": "Q24JV6",
            "uniprot_id": "Q24JV6_DANRE",
            "refseq_ac": "NP_001035134",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myosin regulatory light chain 2b",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Myosin, light chain 2b, regulatory, cardiac, slow",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Myosin, light polypeptide 2, regulatory, cardiac, slow",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "myosin, light chain 2b, regulatory, cardiac, slow",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "myosin, light polypeptide 2, regulatory, cardiac, slow; myosin, light polypeptide 2b, regulatory, cardiac, slow; myosin regulatory light chain 2b",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "myl2b",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "mlc2b; myl2; zgc:136848",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "mlc2b",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "myl2b",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "myl2",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "zgc:136848",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0051044",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051044"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P08733-1",
            "uniprot_ac": "P08733",
            "uniprot_id": "MLRV_RAT",
            "refseq_ac": "NP_001030329",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myosin regulatory light chain 2, ventricular/cardiac muscle isoform",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "MLC-2s/v",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "MLC-2v",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "MLC-2",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Myosin light chain 2, slow skeletal/ventricular muscle isoform",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "cardiac myosin light chain-2; myosin, light polypeptide 2, regulatory, cardiac, slow; myosin, light chain 2, regulatory, cardiac, slow",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "myosin regulatory light chain 2, ventricular/cardiac muscle isoform",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Myl2",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Mlc-2; MLC-2s/v; Mlc2",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Mlc2",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Myl2",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0051044",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051044"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0051044"
}