{
    "disease_id": "DOID:0081375",
    "recommended_name": {
        "id": "DOID:0081375",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081375",
        "name": "nemaline myopathy 5C",
        "description": "A nemaline myopathy that has_material_basis_in autosomal dominant inheritance of a homozygous or compound heterozygous mutation in the TNNT1 gene on chromosome 19q13."
    },
    "synonyms": [
        {
            "id": "MONDO:0957284",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957284",
            "name": "nemaline myopathy 5C, autosomal dominant",
            "description": ""
        },
        {
            "id": "MIM:620389",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620389",
            "name": "Nemaline myopathy 5C, autosomal dominant",
            "description": "Nemaline myopathy 5C, autosomal dominant"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081375"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081375",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081375",
            "categories": []
        },
        {
            "id": "MONDO:0957284",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957284",
            "categories": []
        },
        {
            "id": "MIM:620389",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620389",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "O88346-1",
            "uniprot_ac": "O88346",
            "uniprot_id": "TNNT1_MOUSE",
            "refseq_ac": "NP_001264832",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Troponin T, slow skeletal muscle",
                    "type": "recommended"
                },
                {
                    "name": "Slow skeletal muscle troponin T",
                    "type": "synonym"
                },
                {
                    "name": "TnTs",
                    "type": "synonym"
                },
                {
                    "name": "sTnT",
                    "type": "synonym"
                },
                {
                    "name": "skeletal muscle slow-twitch TnT",
                    "type": "synonym"
                },
                {
                    "name": "troponin T, slow skeletal muscle isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "troponin T, slow skeletal muscle",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tnnt1",
                    "type": "recommended"
                },
                {
                    "name": "Tnnt1",
                    "type": "synonym"
                },
                {
                    "name": "Tnt",
                    "type": "synonym"
                },
                {
                    "name": "sTnT",
                    "type": "synonym"
                },
                {
                    "name": "ssTnT",
                    "type": "synonym"
                }
            ],
            "record_id": "O88346-1",
            "evidence": [
                {
                    "id": "0081375",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081375"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P13805-1",
            "uniprot_ac": "P13805",
            "uniprot_id": "TNNT1_HUMAN",
            "refseq_ac": "NP_001119604",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Troponin T, slow skeletal muscle",
                    "type": "recommended"
                },
                {
                    "name": "Slow skeletal muscle troponin T",
                    "type": "synonym"
                },
                {
                    "name": "TnTs",
                    "type": "synonym"
                },
                {
                    "name": "sTnT",
                    "type": "synonym"
                },
                {
                    "name": "slow skeletal muscle troponin T",
                    "type": "synonym"
                },
                {
                    "name": "troponin T type 1 (skeletal, slow)",
                    "type": "synonym"
                },
                {
                    "name": "troponin T, slow skeletal muscle isoform b",
                    "type": "synonym"
                },
                {
                    "name": "troponin-T1, skeletal, slow",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TNNT1",
                    "type": "recommended"
                },
                {
                    "name": "ANM",
                    "type": "synonym"
                },
                {
                    "name": "NEM5",
                    "type": "synonym"
                },
                {
                    "name": "STNT",
                    "type": "synonym"
                },
                {
                    "name": "TNNT1",
                    "type": "synonym"
                },
                {
                    "name": "TNTS",
                    "type": "synonym"
                },
                {
                    "name": "TNT",
                    "type": "synonym"
                }
            ],
            "record_id": "P13805-1",
            "evidence": [
                {
                    "id": "620389",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620389"
                },
                {
                    "id": "0081375",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081375"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7TNB2-1",
            "uniprot_ac": "Q7TNB2",
            "uniprot_id": "TNNT1_RAT",
            "refseq_ac": "NP_001264189",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Troponin T, slow skeletal muscle",
                    "type": "recommended"
                },
                {
                    "name": "Slow skeletal muscle troponin T",
                    "type": "synonym"
                },
                {
                    "name": "TnTs",
                    "type": "synonym"
                },
                {
                    "name": "sTnT",
                    "type": "synonym"
                },
                {
                    "name": "slow skeletal muscle troponin T",
                    "type": "synonym"
                },
                {
                    "name": "troponin T type 1 (skeletal, slow)",
                    "type": "synonym"
                },
                {
                    "name": "troponin T, slow skeletal muscle isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "troponin T, slow skeletal muscle",
                    "type": "synonym"
                },
                {
                    "name": "troponin T1, skeletal, slow",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tnnt1",
                    "type": "recommended"
                },
                {
                    "name": "Fang2",
                    "type": "synonym"
                },
                {
                    "name": "Tnnt1",
                    "type": "synonym"
                },
                {
                    "name": "sTnT",
                    "type": "synonym"
                },
                {
                    "name": "tnTs",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7TNB2-1",
            "evidence": [
                {
                    "id": "0081375",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081375"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P19351-1",
            "uniprot_ac": "P19351",
            "uniprot_id": "TNNT_DROME",
            "refseq_ac": "NP_001014737",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Troponin T, skeletal muscle",
                    "type": "recommended"
                },
                {
                    "name": "CG7107-PG",
                    "type": "synonym"
                },
                {
                    "name": "Protein intended thorax",
                    "type": "synonym"
                },
                {
                    "name": "Protein upheld",
                    "type": "synonym"
                },
                {
                    "name": "indented thorax",
                    "type": "synonym"
                },
                {
                    "name": "troponin T",
                    "type": "synonym"
                },
                {
                    "name": "troponin-T",
                    "type": "synonym"
                },
                {
                    "name": "troponinT",
                    "type": "synonym"
                },
                {
                    "name": "up-PG",
                    "type": "synonym"
                },
                {
                    "name": "upheld, isoform G",
                    "type": "synonym"
                },
                {
                    "name": "upheld",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "up",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:LD08591",
                    "type": "synonym"
                },
                {
                    "name": "CG7107",
                    "type": "synonym"
                },
                {
                    "name": "DmTpnT",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7107",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG7107",
                    "type": "synonym"
                },
                {
                    "name": "TNT",
                    "type": "synonym"
                },
                {
                    "name": "Tn-T",
                    "type": "synonym"
                },
                {
                    "name": "TnT",
                    "type": "synonym"
                },
                {
                    "name": "TpnT",
                    "type": "synonym"
                },
                {
                    "name": "Up",
                    "type": "synonym"
                },
                {
                    "name": "cTNT",
                    "type": "synonym"
                },
                {
                    "name": "dro TnT",
                    "type": "synonym"
                },
                {
                    "name": "int",
                    "type": "synonym"
                },
                {
                    "name": "tnT",
                    "type": "synonym"
                },
                {
                    "name": "upheld2",
                    "type": "synonym"
                },
                {
                    "name": "up",
                    "type": "synonym"
                },
                {
                    "name": "wupB",
                    "type": "synonym"
                }
            ],
            "record_id": "P19351-1",
            "evidence": [
                {
                    "id": "0081375",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081375"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081375"
}