{
    "disease_id": "DOID:0111601",
    "recommended_name": {
        "id": "DOID:0111601",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111601",
        "name": "distal arthrogryposis type 2B2",
        "description": "A distal arthrogryposis type 2B that has_material_basis_in heterozygous mutation in the TNNT3 gene on chromosome 11p15.5."
    },
    "synonyms": [
        {
            "id": "DOID:0111601",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111601",
            "name": "DA2B2",
            "description": ""
        },
        {
            "id": "MONDO:0032750",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032750",
            "name": "arthrogryposis, distal, type 2B2",
            "description": ""
        },
        {
            "id": "MONDO:0032750",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032750",
            "name": "DA2B2",
            "description": ""
        },
        {
            "id": "MONDO:0032750",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032750",
            "name": "arthrogryposis, distal, type 2B2",
            "description": ""
        },
        {
            "id": "MIM:618435",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618435",
            "name": "Arthrogryposis, distal, 2B2",
            "description": "Arthrogryposis, distal, 2B2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111601"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111601",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111601",
            "categories": []
        },
        {
            "id": "MONDO:0032750",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032750",
            "categories": []
        },
        {
            "id": "MIM:618435",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618435",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AB32TUE0-1",
            "uniprot_ac": "A0AB32TUE0",
            "uniprot_id": "A0AB32TUE0_DANRE",
            "refseq_ac": "XP_068078204",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Troponin T type 3b (Skeletal, fast) isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "troponin T type 3b (skeletal, fast) isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tnnt3b",
                    "type": "recommended"
                },
                {
                    "name": "b44",
                    "type": "synonym"
                },
                {
                    "name": "cb44",
                    "type": "synonym"
                },
                {
                    "name": "sb:cb44",
                    "type": "synonym"
                },
                {
                    "name": "tnnt3b",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB32TUE0-1",
            "evidence": [
                {
                    "id": "0111601",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111601"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9QZ47-1",
            "uniprot_ac": "Q9QZ47",
            "uniprot_id": "TNNT3_MOUSE",
            "refseq_ac": "NP_001157137",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Troponin T, fast skeletal muscle",
                    "type": "recommended"
                },
                {
                    "name": "Fast skeletal muscle troponin T",
                    "type": "synonym"
                },
                {
                    "name": "TnTf",
                    "type": "synonym"
                },
                {
                    "name": "fTnT",
                    "type": "synonym"
                },
                {
                    "name": "fast skeletal muscle troponin T3",
                    "type": "synonym"
                },
                {
                    "name": "skeletal muscle fast-twitch TnT",
                    "type": "synonym"
                },
                {
                    "name": "tnTf",
                    "type": "synonym"
                },
                {
                    "name": "troponin T, fast skeletal muscle isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "troponin T, fast skeletal muscle",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tnnt3",
                    "type": "recommended"
                },
                {
                    "name": "Tnnt3",
                    "type": "synonym"
                },
                {
                    "name": "fTnT",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9QZ47-1",
            "evidence": [
                {
                    "id": "0111601",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111601"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P45378-1",
            "uniprot_ac": "P45378",
            "uniprot_id": "TNNT3_HUMAN",
            "refseq_ac": "NP_001036245",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Troponin T, fast skeletal muscle",
                    "type": "recommended"
                },
                {
                    "name": "Beta-TnTF",
                    "type": "synonym"
                },
                {
                    "name": "Fast skeletal muscle troponin T",
                    "type": "synonym"
                },
                {
                    "name": "TnTf",
                    "type": "synonym"
                },
                {
                    "name": "fTnT",
                    "type": "synonym"
                },
                {
                    "name": "troponin T type 3 (skeletal, fast)",
                    "type": "synonym"
                },
                {
                    "name": "troponin T, fast skeletal muscle isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "troponin T, fast skeletal muscle",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TNNT3",
                    "type": "recommended"
                },
                {
                    "name": "DA2B2",
                    "type": "synonym"
                },
                {
                    "name": "TNNT3",
                    "type": "synonym"
                },
                {
                    "name": "TNTF",
                    "type": "synonym"
                },
                {
                    "name": "beta-TnTF",
                    "type": "synonym"
                }
            ],
            "record_id": "P45378-1",
            "evidence": [
                {
                    "id": "618435",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618435"
                },
                {
                    "id": "0111601",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111601"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P09739-1",
            "uniprot_ac": "P09739",
            "uniprot_id": "TNNT3_RAT",
            "refseq_ac": "NP_001257593",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Troponin T, fast skeletal muscle",
                    "type": "recommended"
                },
                {
                    "name": "Fast skeletal muscle troponin T",
                    "type": "synonym"
                },
                {
                    "name": "TnTf",
                    "type": "synonym"
                },
                {
                    "name": "fTnT",
                    "type": "synonym"
                },
                {
                    "name": "fast skeletal muscle troponin T",
                    "type": "synonym"
                },
                {
                    "name": "tnTf",
                    "type": "synonym"
                },
                {
                    "name": "troponin T type 3 (skeletal, fast)",
                    "type": "synonym"
                },
                {
                    "name": "troponin T, fast skeletal muscle isoform 11",
                    "type": "synonym"
                },
                {
                    "name": "troponin T, fast skeletal muscle",
                    "type": "synonym"
                },
                {
                    "name": "troponin T3, skeletal, fast",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tnnt3",
                    "type": "recommended"
                },
                {
                    "name": "Tnnt3",
                    "type": "synonym"
                },
                {
                    "name": "Tnt",
                    "type": "synonym"
                }
            ],
            "record_id": "P09739-1",
            "evidence": [
                {
                    "id": "0111601",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111601"
                }
            ]
        },
        {
            "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": "0111601",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111601"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111601"
}