{
    "disease_id": "DOID:0112190",
    "recommended_name": {
        "id": "DOID:0112190",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112190",
        "name": "distal arthrogryposis type 1C",
        "description": "A distal arthrogryposis type 1 characterized by congenital contractures, scoliosis, and short stature that has_material_basis_in heterozygous or homozygous mutation in the MYLPF gene on chromosome 16p11.2."
    },
    "synonyms": [
        {
            "id": "DOID:0112190",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112190",
            "name": "DA1C",
            "description": ""
        },
        {
            "id": "MONDO:0030847",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030847",
            "name": "arthrogryposis, distal, type 1C",
            "description": ""
        },
        {
            "id": "MONDO:0030847",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030847",
            "name": "DA1C",
            "description": ""
        },
        {
            "id": "MONDO:0030847",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030847",
            "name": "arthrogryposis, distal, type 1C",
            "description": ""
        },
        {
            "id": "MIM:619110",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619110",
            "name": "Arthrogryposis, distal, 1C",
            "description": "Arthrogryposis, distal, 1C"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112190"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112190",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112190",
            "categories": []
        },
        {
            "id": "MONDO:0030847",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030847",
            "categories": []
        },
        {
            "id": "MIM:619110",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619110",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q66I73-1",
            "uniprot_ac": "Q66I73",
            "uniprot_id": "MLRSB_DANRE",
            "refseq_ac": "NP_001004668",
            "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 2, skeletal muscle isoform B",
                    "type": "recommended"
                },
                {
                    "name": "myosin regulatory light chain 2, skeletal muscle isoform B",
                    "type": "synonym"
                },
                {
                    "name": "myosin regulatory light chain 2, skeletal muscle",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mylpfb",
                    "type": "recommended"
                },
                {
                    "name": "mylpfb",
                    "type": "synonym"
                },
                {
                    "name": "zgc:103639",
                    "type": "synonym"
                }
            ],
            "record_id": "Q66I73-1",
            "evidence": [
                {
                    "id": "0112190",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112190"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O93409-1",
            "uniprot_ac": "O93409",
            "uniprot_id": "MLRSA_DANRE",
            "refseq_ac": "NP_571263",
            "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 2, skeletal muscle isoform A",
                    "type": "recommended"
                },
                {
                    "name": "Fast skeletal myosin light chain 2",
                    "type": "synonym"
                },
                {
                    "name": "Myosin light chain 11",
                    "type": "synonym"
                },
                {
                    "name": "Myosin regulatory light chain 11",
                    "type": "synonym"
                },
                {
                    "name": "fast skeletal myosin light chain 2",
                    "type": "synonym"
                },
                {
                    "name": "myosin light chain 11",
                    "type": "synonym"
                },
                {
                    "name": "myosin light chain 2",
                    "type": "synonym"
                },
                {
                    "name": "myosin regulatory light chain 11",
                    "type": "synonym"
                },
                {
                    "name": "myosin regulatory light chain 2, skeletal muscle isoform A",
                    "type": "synonym"
                },
                {
                    "name": "myosin regulatory light chain 2, skeletal muscle",
                    "type": "synonym"
                },
                {
                    "name": "myosin, light polypeptide 2, skeletal muscle",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mylpfa",
                    "type": "recommended"
                },
                {
                    "name": "cb46",
                    "type": "synonym"
                },
                {
                    "name": "mlc2f",
                    "type": "synonym"
                },
                {
                    "name": "myl11a",
                    "type": "synonym"
                },
                {
                    "name": "mylpfa",
                    "type": "synonym"
                },
                {
                    "name": "mylz2",
                    "type": "synonym"
                },
                {
                    "name": "sb:cb46",
                    "type": "synonym"
                }
            ],
            "record_id": "O93409-1",
            "evidence": [
                {
                    "id": "0112190",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112190"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P97457-1",
            "uniprot_ac": "P97457",
            "uniprot_id": "MYL11_MOUSE",
            "refseq_ac": "NP_058034",
            "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 11",
                    "type": "recommended"
                },
                {
                    "name": "Fast skeletal myosin light chain 2",
                    "type": "synonym"
                },
                {
                    "name": "MLC2F",
                    "type": "synonym"
                },
                {
                    "name": "Myosin light chain 11",
                    "type": "synonym"
                },
                {
                    "name": "Myosin regulatory light chain 2, skeletal muscle isoform",
                    "type": "synonym"
                },
                {
                    "name": "fast skeletal myosin light chain 2",
                    "type": "synonym"
                },
                {
                    "name": "myosin light chain 11",
                    "type": "synonym"
                },
                {
                    "name": "myosin light chain 2",
                    "type": "synonym"
                },
                {
                    "name": "myosin regulatory light chain 11 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "myosin regulatory light chain 11",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Myl11",
                    "type": "recommended"
                },
                {
                    "name": "Mylpf",
                    "type": "recommended"
                },
                {
                    "name": "2410014J02Rik",
                    "type": "synonym"
                },
                {
                    "name": "MLC-2",
                    "type": "synonym"
                },
                {
                    "name": "Mlc2",
                    "type": "synonym"
                },
                {
                    "name": "Myl11",
                    "type": "synonym"
                },
                {
                    "name": "Mylpf",
                    "type": "synonym"
                }
            ],
            "record_id": "P97457-1",
            "evidence": [
                {
                    "id": "0112190",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112190"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96A32-1",
            "uniprot_ac": "Q96A32",
            "uniprot_id": "MYL11_HUMAN",
            "refseq_ac": "NP_001311387",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myosin regulatory light chain 11",
                    "type": "recommended"
                },
                {
                    "name": "Fast skeletal myosin light chain 2",
                    "type": "synonym"
                },
                {
                    "name": "MLC2B",
                    "type": "synonym"
                },
                {
                    "name": "Myosin light chain 11",
                    "type": "synonym"
                },
                {
                    "name": "Myosin regulatory light chain 2, skeletal muscle isoform",
                    "type": "synonym"
                },
                {
                    "name": "fast skeletal myosin light chain 2",
                    "type": "synonym"
                },
                {
                    "name": "myosin light chain, phosphorylatable, fast skeletal muscle",
                    "type": "synonym"
                },
                {
                    "name": "myosin regulatory light chain 11",
                    "type": "synonym"
                },
                {
                    "name": "myosin, light chain 11, regulatory",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MYL11",
                    "type": "recommended"
                },
                {
                    "name": "DA1C",
                    "type": "synonym"
                },
                {
                    "name": "HSRLC",
                    "type": "synonym"
                },
                {
                    "name": "HUMMLC2B",
                    "type": "synonym"
                },
                {
                    "name": "MLC2B",
                    "type": "synonym"
                },
                {
                    "name": "MRLC2",
                    "type": "synonym"
                },
                {
                    "name": "MYL11",
                    "type": "synonym"
                },
                {
                    "name": "MYLPF",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96A32-1",
            "evidence": [
                {
                    "id": "619110",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619110"
                },
                {
                    "id": "0112190",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112190"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P04466-1",
            "uniprot_ac": "P04466",
            "uniprot_id": "MYL11_RAT",
            "refseq_ac": "NP_036737",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myosin regulatory light chain 11",
                    "type": "recommended"
                },
                {
                    "name": "DTNB",
                    "type": "synonym"
                },
                {
                    "name": "Fast skeletal myosin light chain 2",
                    "type": "synonym"
                },
                {
                    "name": "G2",
                    "type": "synonym"
                },
                {
                    "name": "MLC-2",
                    "type": "synonym"
                },
                {
                    "name": "Myosin light chain 11",
                    "type": "synonym"
                },
                {
                    "name": "Myosin regulatory light chain 2, skeletal muscle isoform",
                    "type": "synonym"
                },
                {
                    "name": "Myosin, light polypeptide 2, alkali",
                    "type": "synonym"
                },
                {
                    "name": "fast skeletal myosin light chain 2",
                    "type": "synonym"
                },
                {
                    "name": "myosin light chain, phosphorylatable, fast skeletal muscle",
                    "type": "synonym"
                },
                {
                    "name": "myosin regulatory light chain 11",
                    "type": "synonym"
                },
                {
                    "name": "ventricular, skeletal, slow",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Myl11",
                    "type": "recommended"
                },
                {
                    "name": "MLC2",
                    "type": "synonym"
                },
                {
                    "name": "Myl11",
                    "type": "synonym"
                },
                {
                    "name": "Myl2",
                    "type": "synonym"
                },
                {
                    "name": "Mylpf",
                    "type": "synonym"
                },
                {
                    "name": "Myolc1",
                    "type": "synonym"
                }
            ],
            "record_id": "P04466-1",
            "evidence": [
                {
                    "id": "0112190",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112190"
                }
            ]
        },
        {
            "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": "0112190",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112190"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112190"
}