{
    "disease_id": "DOID:0081348",
    "recommended_name": {
        "id": "DOID:0081348",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081348",
        "name": "congenital myopathy 16",
        "description": "A congenital myopathy that is characterized by onset of hypotonia and tremor in infancy and that has_material_basis_in heterozygous mutation in the MYBPC1 gene on chromosome 12q23. Patients have mildly delayed walking, unsteady gait, proximal muscle weakness, and a high-frequency tremor of the limbs."
    },
    "synonyms": [
        {
            "id": "MONDO:0032797",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032797",
            "name": "myopathy, congenital, with tremor",
            "description": ""
        },
        {
            "id": "MONDO:0032797",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032797",
            "name": "MYOTREM",
            "description": ""
        },
        {
            "id": "MIM:618524",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618524",
            "name": "Congenital myopathy 16",
            "description": "Congenital myopathy 16"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081348"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081348",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081348",
            "categories": []
        },
        {
            "id": "MONDO:0032797",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032797",
            "categories": []
        },
        {
            "id": "MIM:618524",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618524",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AC58J6F6-1",
            "uniprot_ac": "A0AC58J6F6",
            "uniprot_id": "A0AC58J6F6_DANRE",
            "refseq_ac": "XP_073802054",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myosin-binding protein C, slow-type",
                    "type": "recommended"
                },
                {
                    "name": "C-protein, skeletal muscle slow isoform",
                    "type": "synonym"
                },
                {
                    "name": "myosin-binding protein C, slow-type isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mybpc1",
                    "type": "recommended"
                },
                {
                    "name": "mybpc1",
                    "type": "synonym"
                },
                {
                    "name": "zgc:92073",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58J6F6-1",
            "evidence": [
                {
                    "id": "0081348",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081348"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A571BEN1-1",
            "uniprot_ac": "A0A571BEN1",
            "uniprot_id": "A0A571BEN1_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myosin-binding protein C, slow-type",
                    "type": "recommended"
                },
                {
                    "name": "C-protein, skeletal muscle slow isoform",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mybpc1",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A571BEN1-1",
            "evidence": [
                {
                    "id": "0081348",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081348"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q00872-1",
            "uniprot_ac": "Q00872",
            "uniprot_id": "MYPC1_HUMAN",
            "refseq_ac": "NP_001241649",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myosin-binding protein C, slow-type",
                    "type": "recommended"
                },
                {
                    "name": "C-protein, skeletal muscle slow isoform",
                    "type": "synonym"
                },
                {
                    "name": "Slow MyBP-C",
                    "type": "synonym"
                },
                {
                    "name": "myosin binding protein C, slow type",
                    "type": "synonym"
                },
                {
                    "name": "myosin-binding protein C, slow-type isoform 7",
                    "type": "synonym"
                },
                {
                    "name": "skeletal muscle C-protein",
                    "type": "synonym"
                },
                {
                    "name": "slow MyBP-C",
                    "type": "synonym"
                },
                {
                    "name": "slow skeletal-type muscle myosin-binding-protein C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MYBPC1",
                    "type": "recommended"
                },
                {
                    "name": "CMYO16",
                    "type": "synonym"
                },
                {
                    "name": "CMYP16",
                    "type": "synonym"
                },
                {
                    "name": "LCCS4",
                    "type": "synonym"
                },
                {
                    "name": "MYBPC1",
                    "type": "synonym"
                },
                {
                    "name": "MYBPCC",
                    "type": "synonym"
                },
                {
                    "name": "MYBPCS",
                    "type": "synonym"
                },
                {
                    "name": "MYOTREM",
                    "type": "synonym"
                },
                {
                    "name": "ssMyBP-C",
                    "type": "synonym"
                }
            ],
            "record_id": "Q00872-1",
            "evidence": [
                {
                    "id": "618524",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618524"
                },
                {
                    "id": "0081348",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081348"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q63518-1",
            "uniprot_ac": "Q63518",
            "uniprot_id": "MYPC1_RAT",
            "refseq_ac": "NP_001094228",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myosin-binding protein C, slow-type",
                    "type": "recommended"
                },
                {
                    "name": "C-protein, skeletal muscle slow isoform",
                    "type": "synonym"
                },
                {
                    "name": "Slow MyBP-C",
                    "type": "synonym"
                },
                {
                    "name": "muscle C-protein",
                    "type": "synonym"
                },
                {
                    "name": "myosin binding protein C, slow type",
                    "type": "synonym"
                },
                {
                    "name": "myosin-binding protein C, slow-type",
                    "type": "synonym"
                },
                {
                    "name": "slow MyBP-C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mybpc1",
                    "type": "recommended"
                },
                {
                    "name": "Mybpc1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q63518-1",
            "evidence": [
                {
                    "id": "0081348",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081348"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VZT8-1",
            "uniprot_ac": "Q9VZT8",
            "uniprot_id": "Q9VZT8_DROME",
            "refseq_ac": "NP_647779",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG14964-PB",
                    "type": "synonym"
                },
                {
                    "name": "MnM-PB",
                    "type": "synonym"
                },
                {
                    "name": "Myomesin and myosin binding protein",
                    "type": "synonym"
                },
                {
                    "name": "myomesin and myosin binding protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MnM",
                    "type": "recommended"
                },
                {
                    "name": "CG14964",
                    "type": "synonym"
                },
                {
                    "name": "CT34810",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG14964",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG14964",
                    "type": "synonym"
                },
                {
                    "name": "MnM",
                    "type": "synonym"
                },
                {
                    "name": "dMnM",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VZT8-1",
            "evidence": [
                {
                    "id": "0081348",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081348"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081348"
}