{
    "disease_id": "DOID:0051044",
    "recommended_name": {
        "id": "DOID:0051044",
        "resource": "Disease Ontology",
        "url": "https://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": "https://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": "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",
                    "type": "recommended"
                },
                {
                    "name": "MLC-2s/v",
                    "type": "synonym"
                },
                {
                    "name": "MLC-2v",
                    "type": "synonym"
                },
                {
                    "name": "MLC-2",
                    "type": "synonym"
                },
                {
                    "name": "Myosin light chain 2, slow skeletal/ventricular muscle isoform",
                    "type": "synonym"
                },
                {
                    "name": "myosin light chain 2v",
                    "type": "synonym"
                },
                {
                    "name": "myosin light chain, phosphorylatable, cardiac ventricles",
                    "type": "synonym"
                },
                {
                    "name": "myosin regulatory light chain 2, ventricular/cardiac muscle isoform isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Myl2",
                    "type": "recommended"
                },
                {
                    "name": "Gm32672",
                    "type": "synonym"
                },
                {
                    "name": "MLC-2s/v",
                    "type": "synonym"
                },
                {
                    "name": "MLC-2v",
                    "type": "synonym"
                },
                {
                    "name": "MLC-2",
                    "type": "synonym"
                },
                {
                    "name": "Mlc2v",
                    "type": "synonym"
                },
                {
                    "name": "Myl2",
                    "type": "synonym"
                },
                {
                    "name": "Mylpc",
                    "type": "synonym"
                }
            ],
            "record_id": "P51667-1",
            "evidence": [
                {
                    "id": "0051044",
                    "database": "AGR",
                    "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",
                    "type": "recommended"
                },
                {
                    "name": "Cardiac myosin light chain 2",
                    "type": "synonym"
                },
                {
                    "name": "MLC-2s/v",
                    "type": "synonym"
                },
                {
                    "name": "MLC-2v",
                    "type": "synonym"
                },
                {
                    "name": "MLC-2",
                    "type": "synonym"
                },
                {
                    "name": "Myosin light chain 2, slow skeletal/ventricular muscle isoform",
                    "type": "synonym"
                },
                {
                    "name": "RLC of myosin",
                    "type": "synonym"
                },
                {
                    "name": "S15D myosin regulatory light chain 2",
                    "type": "synonym"
                },
                {
                    "name": "T160D myosin regulatory light chain 2",
                    "type": "synonym"
                },
                {
                    "name": "Ventricular myosin light chain 2",
                    "type": "synonym"
                },
                {
                    "name": "cardiac myosin light chain 2",
                    "type": "synonym"
                },
                {
                    "name": "cardiac ventricular myosin light chain 2",
                    "type": "synonym"
                },
                {
                    "name": "myosin regulatory light chain 2, ventricular/cardiac muscle isoform isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "myosin, light chain 2, regulatory, cardiac, slow",
                    "type": "synonym"
                },
                {
                    "name": "myosin, light polypeptide 2, regulatory, cardiac, slow",
                    "type": "synonym"
                },
                {
                    "name": "regulatory light chain of myosin",
                    "type": "synonym"
                },
                {
                    "name": "slow cardiac myosin regulatory light chain 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MYL2",
                    "type": "recommended"
                },
                {
                    "name": "CMH10",
                    "type": "synonym"
                },
                {
                    "name": "MFM12",
                    "type": "synonym"
                },
                {
                    "name": "MLC-2s/v",
                    "type": "synonym"
                },
                {
                    "name": "MLC-2v",
                    "type": "synonym"
                },
                {
                    "name": "MLC-2",
                    "type": "synonym"
                },
                {
                    "name": "MLC2",
                    "type": "synonym"
                },
                {
                    "name": "MYL2",
                    "type": "synonym"
                }
            ],
            "record_id": "P10916-1",
            "evidence": [
                {
                    "id": "619424",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619424"
                },
                {
                    "id": "0051044",
                    "database": "AGR",
                    "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",
                    "type": "recommended"
                },
                {
                    "name": "Calmodulin-like myosin light chain MLC2",
                    "type": "synonym"
                },
                {
                    "name": "MYO1 light chain 2",
                    "type": "synonym"
                },
                {
                    "name": "Mlc2p",
                    "type": "synonym"
                },
                {
                    "name": "Myosin-1 light chain",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MLC2",
                    "type": "recommended"
                },
                {
                    "name": "MLC2",
                    "type": "synonym"
                },
                {
                    "name": "P9677.10",
                    "type": "synonym"
                }
            ],
            "record_id": "Q06580-1",
            "evidence": [
                {
                    "id": "0051044",
                    "database": "AGR",
                    "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",
                    "type": "recommended"
                },
                {
                    "name": "MLC-2s/v",
                    "type": "synonym"
                },
                {
                    "name": "MLC-2v",
                    "type": "synonym"
                },
                {
                    "name": "MLC-2",
                    "type": "synonym"
                },
                {
                    "name": "Myosin light chain 2, slow skeletal/ventricular muscle isoform",
                    "type": "synonym"
                },
                {
                    "name": "cardiac myosin light chain-2",
                    "type": "synonym"
                },
                {
                    "name": "myosin regulatory light chain 2, ventricular/cardiac muscle isoform",
                    "type": "synonym"
                },
                {
                    "name": "myosin, light chain 2, regulatory, cardiac, slow",
                    "type": "synonym"
                },
                {
                    "name": "myosin, light polypeptide 2, regulatory, cardiac, slow",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Myl2",
                    "type": "recommended"
                },
                {
                    "name": "MLC-2s/v",
                    "type": "synonym"
                },
                {
                    "name": "Mlc-2",
                    "type": "synonym"
                },
                {
                    "name": "Mlc2",
                    "type": "synonym"
                },
                {
                    "name": "Myl2",
                    "type": "synonym"
                }
            ],
            "record_id": "P08733-1",
            "evidence": [
                {
                    "id": "0051044",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051044"
                }
            ]
        },
        {
            "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",
                    "type": "recommended"
                },
                {
                    "name": "CG2184-PA",
                    "type": "synonym"
                },
                {
                    "name": "MLC-2",
                    "type": "synonym"
                },
                {
                    "name": "Mlc2-PA",
                    "type": "synonym"
                },
                {
                    "name": "muscle-specific myosin regulatory light chain",
                    "type": "synonym"
                },
                {
                    "name": "myosin II regulatory light chain",
                    "type": "synonym"
                },
                {
                    "name": "myosin II",
                    "type": "synonym"
                },
                {
                    "name": "myosin LC2",
                    "type": "synonym"
                },
                {
                    "name": "myosin alkali light chain 2",
                    "type": "synonym"
                },
                {
                    "name": "myosin light Chain-2",
                    "type": "synonym"
                },
                {
                    "name": "myosin light chain 2",
                    "type": "synonym"
                },
                {
                    "name": "myosin light chain",
                    "type": "synonym"
                },
                {
                    "name": "myosin light-chain 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mlc2",
                    "type": "recommended"
                },
                {
                    "name": "CG2184",
                    "type": "synonym"
                },
                {
                    "name": "DmMLC2",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG2184",
                    "type": "synonym"
                },
                {
                    "name": "Dmlc2",
                    "type": "synonym"
                },
                {
                    "name": "Dmlc",
                    "type": "synonym"
                },
                {
                    "name": "Ifm(3)99Eb",
                    "type": "synonym"
                },
                {
                    "name": "LC2",
                    "type": "synonym"
                },
                {
                    "name": "MLC 2",
                    "type": "synonym"
                },
                {
                    "name": "MLC-2",
                    "type": "synonym"
                },
                {
                    "name": "MLC2",
                    "type": "synonym"
                },
                {
                    "name": "MLC",
                    "type": "synonym"
                },
                {
                    "name": "MRLC",
                    "type": "synonym"
                },
                {
                    "name": "MYL2",
                    "type": "synonym"
                },
                {
                    "name": "Mlc2",
                    "type": "synonym"
                },
                {
                    "name": "Myosin",
                    "type": "synonym"
                },
                {
                    "name": "RLC1",
                    "type": "synonym"
                },
                {
                    "name": "RLC2",
                    "type": "synonym"
                },
                {
                    "name": "RLC",
                    "type": "synonym"
                },
                {
                    "name": "dMLC-2",
                    "type": "synonym"
                },
                {
                    "name": "dro MLC-2",
                    "type": "synonym"
                },
                {
                    "name": "l(3)99Eb",
                    "type": "synonym"
                },
                {
                    "name": "mlc-2",
                    "type": "synonym"
                },
                {
                    "name": "mlc2",
                    "type": "synonym"
                },
                {
                    "name": "myosin",
                    "type": "synonym"
                },
                {
                    "name": "p-MLC",
                    "type": "synonym"
                }
            ],
            "record_id": "P18432-1",
            "evidence": [
                {
                    "id": "0051044",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051044"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0051044"
}