{
    "disease_id": "DOID:0081346",
    "recommended_name": {
        "id": "DOID:0081346",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081346",
        "name": "congenital myopathy 14",
        "description": "A congenital myopathy that is characterized by onset of severe muscle weakness apparent at birth and sometimes in utero and that has_material_basis_in homozygous mutation in the MYL1 gene on chromosome 2q32. Affected infants have difficulty breathing independently and usually require mechanical ventilation for variable lengths of time."
    },
    "synonyms": [
        {
            "id": "MONDO:0034109",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0034109",
            "name": "congenital myopathy with reduced type 2 muscle fibers",
            "description": ""
        },
        {
            "id": "MONDO:0034109",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0034109",
            "name": "myopathy, congenital, with fast-twitch (type II) fiber atrophy",
            "description": ""
        },
        {
            "id": "MONDO:0034109",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0034109",
            "name": "myopathy, congenital, with fast-twitch (type II) fibre atrophy",
            "description": ""
        },
        {
            "id": "MIM:618414",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618414",
            "name": "Congenital myopathy 14",
            "description": "Congenital myopathy 14"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081346"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081346",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081346",
            "categories": []
        },
        {
            "id": "MONDO:0034109",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0034109",
            "categories": []
        },
        {
            "id": "MIM:618414",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618414",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6P0G6-1",
            "uniprot_ac": "Q6P0G6",
            "uniprot_id": "MYL1_DANRE",
            "refseq_ac": "NP_956294",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myosin, light chain 1, alkali",
                    "type": "recommended"
                },
                {
                    "name": "skeletal, fast",
                    "type": "recommended"
                },
                {
                    "name": "myosin light chain 1, skeletal muscle isoform",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "myl1",
                    "type": "recommended"
                },
                {
                    "name": "fj53a11",
                    "type": "synonym"
                },
                {
                    "name": "myl1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj53a11",
                    "type": "synonym"
                },
                {
                    "name": "zgc:65785",
                    "type": "synonym"
                },
                {
                    "name": "zgc:77231",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6P0G6-1",
            "evidence": [
                {
                    "id": "0081346",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081346"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P05977-1",
            "uniprot_ac": "P05977",
            "uniprot_id": "MYL1_MOUSE",
            "refseq_ac": "NP_001106858",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myosin light chain 1/3, skeletal muscle isoform",
                    "type": "recommended"
                },
                {
                    "name": "A1 catalytic",
                    "type": "synonym"
                },
                {
                    "name": "A2 catalytic",
                    "type": "synonym"
                },
                {
                    "name": "MLC1/MLC3",
                    "type": "synonym"
                },
                {
                    "name": "MLC1F/MLC3F",
                    "type": "synonym"
                },
                {
                    "name": "Myosin light chain A1/A2",
                    "type": "synonym"
                },
                {
                    "name": "Myosin light chain alkali 1/2",
                    "type": "synonym"
                },
                {
                    "name": "atrial, embryonic",
                    "type": "synonym"
                },
                {
                    "name": "myosin light chain 1/3, skeletal muscle isoform isoform 3f",
                    "type": "synonym"
                },
                {
                    "name": "myosin light chain A1/A2",
                    "type": "synonym"
                },
                {
                    "name": "myosin light chain alkali 1/2",
                    "type": "synonym"
                },
                {
                    "name": "myosin light chain, alkali, fast skeletal muscle",
                    "type": "synonym"
                },
                {
                    "name": "myosin, light polypeptide 1, alkali",
                    "type": "synonym"
                },
                {
                    "name": "myosin, light polypeptide 4, alkali",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Myl1",
                    "type": "recommended"
                },
                {
                    "name": "MLC1f",
                    "type": "synonym"
                },
                {
                    "name": "MLC3f",
                    "type": "synonym"
                },
                {
                    "name": "Myl1",
                    "type": "synonym"
                },
                {
                    "name": "Mylf",
                    "type": "synonym"
                }
            ],
            "record_id": "P05977-1",
            "evidence": [
                {
                    "id": "0081346",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081346"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P05976-1",
            "uniprot_ac": "P05976",
            "uniprot_id": "MYL1_HUMAN",
            "refseq_ac": "NP_524144",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myosin light chain 1/3, skeletal muscle isoform",
                    "type": "recommended"
                },
                {
                    "name": "A1 catalytic",
                    "type": "synonym"
                },
                {
                    "name": "A2 catalytic",
                    "type": "synonym"
                },
                {
                    "name": "MLC1/MLC3",
                    "type": "synonym"
                },
                {
                    "name": "MLC1F/MLC3F",
                    "type": "synonym"
                },
                {
                    "name": "Myosin light chain A1/A2",
                    "type": "synonym"
                },
                {
                    "name": "Myosin light chain alkali 1/2",
                    "type": "synonym"
                },
                {
                    "name": "myosin light chain 1/3, skeletal muscle isoform isoform 1f",
                    "type": "synonym"
                },
                {
                    "name": "myosin light chain A1/A2",
                    "type": "synonym"
                },
                {
                    "name": "myosin light chain alkali 1/2",
                    "type": "synonym"
                },
                {
                    "name": "myosin, light chain 1, alkali",
                    "type": "synonym"
                },
                {
                    "name": "myosin, light polypeptide 1, alkali",
                    "type": "synonym"
                },
                {
                    "name": "skeletal, fast",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MYL1",
                    "type": "recommended"
                },
                {
                    "name": "CMYO14",
                    "type": "synonym"
                },
                {
                    "name": "CMYP14",
                    "type": "synonym"
                },
                {
                    "name": "MLC-1",
                    "type": "synonym"
                },
                {
                    "name": "MLC1/3",
                    "type": "synonym"
                },
                {
                    "name": "MLC1F",
                    "type": "synonym"
                },
                {
                    "name": "MLC1",
                    "type": "synonym"
                },
                {
                    "name": "MLC3F",
                    "type": "synonym"
                },
                {
                    "name": "MYL1",
                    "type": "synonym"
                },
                {
                    "name": "MYOFTA",
                    "type": "synonym"
                }
            ],
            "record_id": "P05976-1",
            "evidence": [
                {
                    "id": "618414",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618414"
                },
                {
                    "id": "0081346",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081346"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53141-1",
            "uniprot_ac": "P53141",
            "uniprot_id": "MLC1_YEAST",
            "refseq_ac": "NP_011409",
            "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 1",
                    "type": "recommended"
                },
                {
                    "name": "Calmodulin-like myosin light chain MLC1",
                    "type": "synonym"
                },
                {
                    "name": "Mlc1p",
                    "type": "synonym"
                },
                {
                    "name": "Myosin-2 light chain",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MLC1",
                    "type": "recommended"
                },
                {
                    "name": "G3080",
                    "type": "synonym"
                },
                {
                    "name": "MLC1",
                    "type": "synonym"
                }
            ],
            "record_id": "P53141-1",
            "evidence": [
                {
                    "id": "0081346",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081346"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P02600-1",
            "uniprot_ac": "P02600",
            "uniprot_id": "MYL1_RAT",
            "refseq_ac": "NP_001071124",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myosin light chain 1/3, skeletal muscle isoform",
                    "type": "recommended"
                },
                {
                    "name": "MLC1/MLC3",
                    "type": "synonym"
                },
                {
                    "name": "MLC1F/MLC3F",
                    "type": "synonym"
                },
                {
                    "name": "MLC1F",
                    "type": "synonym"
                },
                {
                    "name": "MLC3F",
                    "type": "synonym"
                },
                {
                    "name": "Myosin light chain A1/A2",
                    "type": "synonym"
                },
                {
                    "name": "Myosin light chain alkali 1/2",
                    "type": "synonym"
                },
                {
                    "name": "alkali myosin light chain 1",
                    "type": "synonym"
                },
                {
                    "name": "alkali myosin light chain 3",
                    "type": "synonym"
                },
                {
                    "name": "fast myosin alkali light chain 1",
                    "type": "synonym"
                },
                {
                    "name": "fast myosin alkali light chain 3",
                    "type": "synonym"
                },
                {
                    "name": "myosin light chain 1/3, skeletal muscle isoform isoform 1f",
                    "type": "synonym"
                },
                {
                    "name": "myosin light chain A1/A2",
                    "type": "synonym"
                },
                {
                    "name": "myosin light chain alkali 1/2",
                    "type": "synonym"
                },
                {
                    "name": "myosin, light polypeptide 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Myl1",
                    "type": "recommended"
                },
                {
                    "name": "MLC-f",
                    "type": "synonym"
                },
                {
                    "name": "MLC3-f",
                    "type": "synonym"
                },
                {
                    "name": "MLCf",
                    "type": "synonym"
                },
                {
                    "name": "Mcl3",
                    "type": "synonym"
                },
                {
                    "name": "Mlc1",
                    "type": "synonym"
                },
                {
                    "name": "Mlc3",
                    "type": "synonym"
                },
                {
                    "name": "Myl1",
                    "type": "synonym"
                }
            ],
            "record_id": "P02600-1",
            "evidence": [
                {
                    "id": "0081346",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081346"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P54357-1",
            "uniprot_ac": "P54357",
            "uniprot_id": "MLC2_DROME",
            "refseq_ac": "NP_511049",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myosin-2 essential light chain",
                    "type": "recommended"
                },
                {
                    "name": "CG3201-PA",
                    "type": "synonym"
                },
                {
                    "name": "Mlc-c-PA",
                    "type": "synonym"
                },
                {
                    "name": "Myosin II essential light chain",
                    "type": "synonym"
                },
                {
                    "name": "Myosin-II",
                    "type": "synonym"
                },
                {
                    "name": "Non-muscle myosin essential light chain",
                    "type": "synonym"
                },
                {
                    "name": "alkali light chain of non-muscle myosin-II",
                    "type": "synonym"
                },
                {
                    "name": "essential light chain-cytoplasmic",
                    "type": "synonym"
                },
                {
                    "name": "essential myosin light chain-cytoplasmic",
                    "type": "synonym"
                },
                {
                    "name": "myosin II",
                    "type": "synonym"
                },
                {
                    "name": "myosin light chain cytoplasmic, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "myosin light chain-cytoplasmic",
                    "type": "synonym"
                },
                {
                    "name": "non-muscle myosin II",
                    "type": "synonym"
                },
                {
                    "name": "non-muscle myosin-II",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mlc-c",
                    "type": "recommended"
                },
                {
                    "name": "CG3201",
                    "type": "synonym"
                },
                {
                    "name": "DmMLC_C",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3201",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG3201",
                    "type": "synonym"
                },
                {
                    "name": "ELC1",
                    "type": "synonym"
                },
                {
                    "name": "ELC",
                    "type": "synonym"
                },
                {
                    "name": "Mlc-c",
                    "type": "synonym"
                },
                {
                    "name": "MyoII",
                    "type": "synonym"
                },
                {
                    "name": "mlc-c",
                    "type": "synonym"
                },
                {
                    "name": "nmELC",
                    "type": "synonym"
                }
            ],
            "record_id": "P54357-1",
            "evidence": [
                {
                    "id": "0081346",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081346"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081346"
}