{
    "disease_id": "DOID:0110314",
    "recommended_name": {
        "id": "DOID:0110314",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110314",
        "name": "hypertrophic cardiomyopathy 8",
        "description": "A familial hypertrophic cardiomyopathy that has_material_basis_in homozygous or heterozygous mutation in the MYL3 gene."
    },
    "synonyms": [
        {
            "id": "DOID:0110314",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110314",
            "name": "cardiomyopathy, familial hypertrophic, 8",
            "description": ""
        },
        {
            "id": "DOID:0110314",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110314",
            "name": "cardiomyopathy hypertrophic mid-left ventricular chamber type 1",
            "description": ""
        },
        {
            "id": "MONDO:0012111",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012111",
            "name": "hypertrophic cardiomyopathy 8",
            "description": "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYL3 gene."
        },
        {
            "id": "MONDO:0012111",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012111",
            "name": "MYL3 hypertrophic cardiomyopathy",
            "description": ""
        },
        {
            "id": "MONDO:0012111",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012111",
            "name": "cardiomyopathy, familial hypertrophic, 8",
            "description": ""
        },
        {
            "id": "MONDO:0012111",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012111",
            "name": "cardiomyopathy, familial hypertrophic, type 8",
            "description": ""
        },
        {
            "id": "MONDO:0012111",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012111",
            "name": "cardiomyopathy, hypertrophic, 8",
            "description": ""
        },
        {
            "id": "MONDO:0012111",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012111",
            "name": "hypertrophic cardiomyopathy 8",
            "description": ""
        },
        {
            "id": "MONDO:0012111",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012111",
            "name": "hypertrophic cardiomyopathy caused by mutation in MYL3",
            "description": ""
        },
        {
            "id": "MONDO:0012111",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012111",
            "name": "hypertrophic cardiomyopathy type 8",
            "description": ""
        },
        {
            "id": "MONDO:0012111",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012111",
            "name": "CMH8",
            "description": ""
        },
        {
            "id": "MIM:608751",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/608751",
            "name": "Cardiomyopathy, familial hypertrophic, 8",
            "description": "Cardiomyopathy, familial hypertrophic, 8"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110314"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110314",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110314",
            "categories": []
        },
        {
            "id": "MONDO:0012111",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012111",
            "categories": []
        },
        {
            "id": "MIM:608751",
            "database": "MIM",
            "url": "https://www.omim.org/entry/608751",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P09542-1",
            "uniprot_ac": "P09542",
            "uniprot_id": "MYL3_MOUSE",
            "refseq_ac": "NP_034989",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myosin light chain 3",
                    "type": "recommended"
                },
                {
                    "name": "MLC1SB",
                    "type": "synonym"
                },
                {
                    "name": "Myosin alkali light chain 1, ventricular/slow skeletal muscle isoform",
                    "type": "synonym"
                },
                {
                    "name": "Myosin light chain 1, slow-twitch muscle B/ventricular isoform",
                    "type": "synonym"
                },
                {
                    "name": "myosin light chain 3",
                    "type": "synonym"
                },
                {
                    "name": "myosin light chain, alkali, cardiac ventricles",
                    "type": "synonym"
                },
                {
                    "name": "myosin, light polypeptide 3, alkali",
                    "type": "synonym"
                },
                {
                    "name": "ventricular, skeletal, slow",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Myl3",
                    "type": "recommended"
                },
                {
                    "name": "MLC1SB",
                    "type": "synonym"
                },
                {
                    "name": "MLC1s",
                    "type": "synonym"
                },
                {
                    "name": "MLC1v",
                    "type": "synonym"
                },
                {
                    "name": "Mlc1v",
                    "type": "synonym"
                },
                {
                    "name": "Myl3",
                    "type": "synonym"
                },
                {
                    "name": "Mylc",
                    "type": "synonym"
                },
                {
                    "name": "VLC1",
                    "type": "synonym"
                }
            ],
            "record_id": "P09542-1",
            "evidence": [
                {
                    "id": "0110314",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110314"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P08590-1",
            "uniprot_ac": "P08590",
            "uniprot_id": "MYL3_HUMAN",
            "refseq_ac": "NP_000249",
            "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 3",
                    "type": "recommended"
                },
                {
                    "name": "CMLC1",
                    "type": "synonym"
                },
                {
                    "name": "Cardiac myosin light chain 1",
                    "type": "synonym"
                },
                {
                    "name": "MLC-lV/sb",
                    "type": "synonym"
                },
                {
                    "name": "MLC1SB",
                    "type": "synonym"
                },
                {
                    "name": "Myosin light chain 1, slow-twitch muscle B/ventricular isoform",
                    "type": "synonym"
                },
                {
                    "name": "VLCl",
                    "type": "synonym"
                },
                {
                    "name": "Ventricular myosin alkali light chain",
                    "type": "synonym"
                },
                {
                    "name": "Ventricular myosin light chain 1",
                    "type": "synonym"
                },
                {
                    "name": "Ventricular/slow twitch myosin alkali light chain",
                    "type": "synonym"
                },
                {
                    "name": "cardiac myosin light chain 1",
                    "type": "synonym"
                },
                {
                    "name": "myosin light chain 3 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "myosin, light chain 3, alkali",
                    "type": "synonym"
                },
                {
                    "name": "myosin, light polypeptide 3, alkali",
                    "type": "synonym"
                },
                {
                    "name": "ventricular myosin alkali light chain",
                    "type": "synonym"
                },
                {
                    "name": "ventricular myosin light chain 1",
                    "type": "synonym"
                },
                {
                    "name": "ventricular, skeletal, slow",
                    "type": "synonym"
                },
                {
                    "name": "ventricular/slow twitch myosin alkali light chain",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MYL3",
                    "type": "recommended"
                },
                {
                    "name": "CMH8",
                    "type": "synonym"
                },
                {
                    "name": "MLC-lV/sb",
                    "type": "synonym"
                },
                {
                    "name": "MLC1SB",
                    "type": "synonym"
                },
                {
                    "name": "MLC1V",
                    "type": "synonym"
                },
                {
                    "name": "MYL3",
                    "type": "synonym"
                },
                {
                    "name": "VLC1",
                    "type": "synonym"
                },
                {
                    "name": "VLCl",
                    "type": "synonym"
                }
            ],
            "record_id": "P08590-1",
            "evidence": [
                {
                    "id": "608751",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/608751"
                },
                {
                    "id": "0110314",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110314"
                }
            ]
        },
        {
            "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": "0110314",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110314"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P16409-1",
            "uniprot_ac": "P16409",
            "uniprot_id": "MYL3_RAT",
            "refseq_ac": "NP_036738",
            "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 3",
                    "type": "recommended"
                },
                {
                    "name": "MLC1SB",
                    "type": "synonym"
                },
                {
                    "name": "MLClV",
                    "type": "synonym"
                },
                {
                    "name": "Myosin alkali light chain 1, ventricular",
                    "type": "synonym"
                },
                {
                    "name": "Myosin light chain 1, slow-twitch muscle B/ventricular isoform",
                    "type": "synonym"
                },
                {
                    "name": "Myosin light chain 3, alkali, cardiac ventricles",
                    "type": "synonym"
                },
                {
                    "name": "Ventricular myosin light chain 1",
                    "type": "synonym"
                },
                {
                    "name": "myosin alkali light chain 1, ventricular",
                    "type": "synonym"
                },
                {
                    "name": "myosin light chain 3",
                    "type": "synonym"
                },
                {
                    "name": "myosin, light chain 3, alkali",
                    "type": "synonym"
                },
                {
                    "name": "myosin, light polypeptide 3",
                    "type": "synonym"
                },
                {
                    "name": "rVMLC1",
                    "type": "synonym"
                },
                {
                    "name": "ventricular myosin light chain 1",
                    "type": "synonym"
                },
                {
                    "name": "ventricular, skeletal, slow",
                    "type": "synonym"
                },
                {
                    "name": "ventricular/slow twitch myosin alkali light chain",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Myl3",
                    "type": "recommended"
                },
                {
                    "name": "MLClV",
                    "type": "synonym"
                },
                {
                    "name": "Mlc1v",
                    "type": "synonym"
                },
                {
                    "name": "Myl3",
                    "type": "synonym"
                },
                {
                    "name": "Mylc1v",
                    "type": "synonym"
                },
                {
                    "name": "rVMLC1",
                    "type": "synonym"
                }
            ],
            "record_id": "P16409-1",
            "evidence": [
                {
                    "id": "0110314",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110314"
                }
            ]
        },
        {
            "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": "0110314",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110314"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P06742-1",
            "uniprot_ac": "P06742",
            "uniprot_id": "MLC1_DROME",
            "refseq_ac": "NP_001287569",
            "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 alkali light chain 1",
                    "type": "recommended"
                },
                {
                    "name": "CG5596-PD",
                    "type": "synonym"
                },
                {
                    "name": "ELC",
                    "type": "synonym"
                },
                {
                    "name": "Mlc1-PD",
                    "type": "synonym"
                },
                {
                    "name": "Myosin essential light chain 1",
                    "type": "synonym"
                },
                {
                    "name": "myosin 3R alkali light chain l",
                    "type": "synonym"
                },
                {
                    "name": "myosin alkali light chain 1, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "myosin alkali light chain l",
                    "type": "synonym"
                },
                {
                    "name": "myosin light Chain-1",
                    "type": "synonym"
                },
                {
                    "name": "myosin light chain 1",
                    "type": "synonym"
                },
                {
                    "name": "myosin light chain alkali",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mlc1",
                    "type": "recommended"
                },
                {
                    "name": "CG5596",
                    "type": "synonym"
                },
                {
                    "name": "DmMLC1",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5596",
                    "type": "synonym"
                },
                {
                    "name": "ELC2",
                    "type": "synonym"
                },
                {
                    "name": "ELC_3",
                    "type": "synonym"
                },
                {
                    "name": "ELC",
                    "type": "synonym"
                },
                {
                    "name": "LC1",
                    "type": "synonym"
                },
                {
                    "name": "MLC-ALK",
                    "type": "synonym"
                },
                {
                    "name": "MLC1",
                    "type": "synonym"
                },
                {
                    "name": "MLC",
                    "type": "synonym"
                },
                {
                    "name": "Mlc-1",
                    "type": "synonym"
                },
                {
                    "name": "Mlc1",
                    "type": "synonym"
                },
                {
                    "name": "MlcI",
                    "type": "synonym"
                },
                {
                    "name": "Mlci",
                    "type": "synonym"
                },
                {
                    "name": "chr3R:23484557..23484663",
                    "type": "synonym"
                },
                {
                    "name": "mlc-alk",
                    "type": "synonym"
                },
                {
                    "name": "mlc1",
                    "type": "synonym"
                },
                {
                    "name": "mlcl",
                    "type": "synonym"
                },
                {
                    "name": "mlc",
                    "type": "synonym"
                },
                {
                    "name": "p-MLC",
                    "type": "synonym"
                }
            ],
            "record_id": "P06742-1",
            "evidence": [
                {
                    "id": "0110314",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110314"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110314"
}