{
    "disease_id": "DOID:0081347",
    "recommended_name": {
        "id": "DOID:0081347",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081347",
        "name": "congenital myopathy 15",
        "description": "A congenital myopathy that is characterized by symptom onset soon after birth and that has_material_basis_in heterozygous mutation in the TNNC2 gene on chromosome 20q13. Affected infants are hypotonic and have severe respiratory insufficiency and feeding problems, sometimes requiring mechanical ventilation or tube feeding."
    },
    "synonyms": [
        {
            "id": "MONDO:0859335",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859335",
            "name": "congenital myopathy 15",
            "description": ""
        },
        {
            "id": "MIM:620161",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620161",
            "name": "Congenital myopathy 15",
            "description": "Congenital myopathy 15"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081347"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081347",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081347",
            "categories": []
        },
        {
            "id": "MONDO:0859335",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859335",
            "categories": []
        },
        {
            "id": "MIM:620161",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620161",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9Q7U4-1",
            "uniprot_ac": "A0A8M9Q7U4",
            "uniprot_id": "A0A8M9Q7U4_DANRE",
            "refseq_ac": "XP_001339131",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Troponin C, skeletal muscle",
                    "type": "recommended"
                },
                {
                    "name": "troponin C, skeletal muscle",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tnnc2.1",
                    "type": "recommended"
                },
                {
                    "name": "tnnc2.1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9Q7U4-1",
            "evidence": [
                {
                    "id": "0081347",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081347"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P20801-1",
            "uniprot_ac": "P20801",
            "uniprot_id": "TNNC2_MOUSE",
            "refseq_ac": "NP_033420",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Troponin C, skeletal muscle",
                    "type": "recommended"
                },
                {
                    "name": "STNC",
                    "type": "synonym"
                },
                {
                    "name": "troponin C, fast skeletal",
                    "type": "synonym"
                },
                {
                    "name": "troponin C, skeletal muscle",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tnnc2",
                    "type": "recommended"
                },
                {
                    "name": "Tncs",
                    "type": "synonym"
                },
                {
                    "name": "Tnnc2",
                    "type": "synonym"
                }
            ],
            "record_id": "P20801-1",
            "evidence": [
                {
                    "id": "0081347",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081347"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P02585-1",
            "uniprot_ac": "P02585",
            "uniprot_id": "TNNC2_HUMAN",
            "refseq_ac": "NP_003270",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Troponin C, skeletal muscle",
                    "type": "recommended"
                },
                {
                    "name": "troponin C type 2 (fast)",
                    "type": "synonym"
                },
                {
                    "name": "troponin C, skeletal muscle",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TNNC2",
                    "type": "recommended"
                },
                {
                    "name": "CFAP85",
                    "type": "synonym"
                },
                {
                    "name": "CMYO15",
                    "type": "synonym"
                },
                {
                    "name": "CMYP15",
                    "type": "synonym"
                },
                {
                    "name": "FAP85",
                    "type": "synonym"
                },
                {
                    "name": "MYONRI",
                    "type": "synonym"
                },
                {
                    "name": "TNNC2",
                    "type": "synonym"
                }
            ],
            "record_id": "P02585-1",
            "evidence": [
                {
                    "id": "620161",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620161"
                },
                {
                    "id": "0081347",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081347"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q304F3-1",
            "uniprot_ac": "Q304F3",
            "uniprot_id": "Q304F3_RAT",
            "refseq_ac": "NP_001032428",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Troponin C, skeletal muscle",
                    "type": "recommended"
                },
                {
                    "name": "skeletal troponin C",
                    "type": "synonym"
                },
                {
                    "name": "troponin C type 2 (fast)",
                    "type": "synonym"
                },
                {
                    "name": "troponin C, skeletal muscle",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tnnc2",
                    "type": "recommended"
                },
                {
                    "name": "Tnnc2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q304F3-1",
            "evidence": [
                {
                    "id": "0081347",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081347"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081347"
}