{
    "disease_id": "DOID:0111600",
    "recommended_name": {
        "id": "DOID:0111600",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111600",
        "name": "distal arthrogryposis type 2B1",
        "description": "A distal arthrogryposis type 2B that has_material_basis_in heterozygous mutation in the TNNI2 gene on chromosome 11p15.5."
    },
    "synonyms": [
        {
            "id": "DOID:0111600",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111600",
            "name": "DA2B1",
            "description": ""
        },
        {
            "id": "MONDO:0020820",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020820",
            "name": "distal arthrogryposis type 2B1",
            "description": ""
        },
        {
            "id": "MONDO:0020820",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020820",
            "name": "DA2B1",
            "description": ""
        },
        {
            "id": "MONDO:0020820",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020820",
            "name": "arthrogryposis, distal, type 2B1",
            "description": ""
        },
        {
            "id": "MIM:601680",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/601680",
            "name": "Arthrogryposis, distal, 2B1",
            "description": "Arthrogryposis, distal, 2B1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111600"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111600",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111600",
            "categories": []
        },
        {
            "id": "MONDO:0020820",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020820",
            "categories": []
        },
        {
            "id": "MIM:601680",
            "database": "MIM",
            "url": "https://www.omim.org/entry/601680",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M2BA47-1",
            "uniprot_ac": "A0A8M2BA47",
            "uniprot_id": "A0A8M2BA47_DANRE",
            "refseq_ac": "XP_005163206",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Troponin I type 2a (Skeletal, fast), tandem duplicate 4 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "troponin I type 2a (skeletal, fast), tandem duplicate 4 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tnni2a.4",
                    "type": "recommended"
                },
                {
                    "name": "hm:zehn0173",
                    "type": "synonym"
                },
                {
                    "name": "tnni2a.4",
                    "type": "synonym"
                },
                {
                    "name": "tnni2",
                    "type": "synonym"
                },
                {
                    "name": "tropI-1d",
                    "type": "synonym"
                },
                {
                    "name": "zgc:86800",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2BA47-1",
            "evidence": [
                {
                    "id": "0111600",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111600"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0AB32THC7-1",
            "uniprot_ac": "A0AB32THC7",
            "uniprot_id": "A0AB32THC7_DANRE",
            "refseq_ac": "NP_001417878",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Troponin I type 2a (Skeletal, fast), tandem duplicate 2",
                    "type": "synonym"
                },
                {
                    "name": "tropI-1b",
                    "type": "synonym"
                },
                {
                    "name": "troponin I type 2a (skeletal, fast), tandem duplicate 2",
                    "type": "synonym"
                },
                {
                    "name": "troponin I, skeletal, fast 2a, tandem duplicate 2",
                    "type": "synonym"
                },
                {
                    "name": "troponin I, skeletal, fast 2a.2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tnni2a.2",
                    "type": "recommended"
                },
                {
                    "name": "Tnni2",
                    "type": "synonym"
                },
                {
                    "name": "tnni2a.2",
                    "type": "synonym"
                },
                {
                    "name": "zgc:56294",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB32THC7-1",
            "evidence": [
                {
                    "id": "0111600",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111600"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1QCC0-1",
            "uniprot_ac": "F1QCC0",
            "uniprot_id": "F1QCC0_DANRE",
            "refseq_ac": "NP_001129964",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Troponin I type 2b (Skeletal, fast), tandem duplicate 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "Troponin I type 2b (Skeletal, fast), tandem duplicate 1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "troponin I type 2b (skeletal, fast), tandem duplicate 1",
                    "type": "synonym"
                },
                {
                    "name": "troponin I, skeletal, fast 2b.1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tnni2b.1",
                    "type": "recommended"
                },
                {
                    "name": "tnni2b.1",
                    "type": "synonym"
                },
                {
                    "name": "tropI-2a",
                    "type": "synonym"
                },
                {
                    "name": "zgc:110715",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QCC0-1",
            "evidence": [
                {
                    "id": "0111600",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111600"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P13412-1",
            "uniprot_ac": "P13412",
            "uniprot_id": "TNNI2_MOUSE",
            "refseq_ac": "NP_033431",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Troponin I, fast skeletal muscle",
                    "type": "recommended"
                },
                {
                    "name": "Troponin I, fast-twitch isoform",
                    "type": "synonym"
                },
                {
                    "name": "troponin I, fast skeletal muscle",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tnni2",
                    "type": "recommended"
                },
                {
                    "name": "Tnni2",
                    "type": "synonym"
                }
            ],
            "record_id": "P13412-1",
            "evidence": [
                {
                    "id": "0111600",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111600"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P48788-1",
            "uniprot_ac": "P48788",
            "uniprot_id": "TNNI2_HUMAN",
            "refseq_ac": "NP_001139301",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Troponin I, fast skeletal muscle",
                    "type": "recommended"
                },
                {
                    "name": "Troponin I, fast-twitch isoform",
                    "type": "synonym"
                },
                {
                    "name": "troponin I fast twitch 2",
                    "type": "synonym"
                },
                {
                    "name": "troponin I type 2 (skeletal, fast)",
                    "type": "synonym"
                },
                {
                    "name": "troponin I, fast skeletal muscle isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "troponin I, skeletal, fast",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TNNI2",
                    "type": "recommended"
                },
                {
                    "name": "AMCD2B",
                    "type": "synonym"
                },
                {
                    "name": "DA2B1",
                    "type": "synonym"
                },
                {
                    "name": "DA2B",
                    "type": "synonym"
                },
                {
                    "name": "FSSV",
                    "type": "synonym"
                },
                {
                    "name": "TNNI2",
                    "type": "synonym"
                },
                {
                    "name": "fsTnI",
                    "type": "synonym"
                }
            ],
            "record_id": "P48788-1",
            "evidence": [
                {
                    "id": "601680",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/601680"
                },
                {
                    "id": "0111600",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111600"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P27768-1",
            "uniprot_ac": "P27768",
            "uniprot_id": "TNNI2_RAT",
            "refseq_ac": "NP_058881",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Troponin I, fast skeletal muscle",
                    "type": "recommended"
                },
                {
                    "name": "Troponin I, fast-twitch isoform",
                    "type": "synonym"
                },
                {
                    "name": "troponin 1, type 2",
                    "type": "synonym"
                },
                {
                    "name": "troponin I type 2 (skeletal, fast)",
                    "type": "synonym"
                },
                {
                    "name": "troponin I, fast skeletal muscle",
                    "type": "synonym"
                },
                {
                    "name": "troponin I, skeletal, fast 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tnni2",
                    "type": "recommended"
                },
                {
                    "name": "Tnni2",
                    "type": "synonym"
                },
                {
                    "name": "Trp1",
                    "type": "synonym"
                }
            ],
            "record_id": "P27768-1",
            "evidence": [
                {
                    "id": "0111600",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111600"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P36188-1",
            "uniprot_ac": "P36188",
            "uniprot_id": "TNNI_DROME",
            "refseq_ac": "NP_523398",
            "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 I",
                    "type": "recommended"
                },
                {
                    "name": "CG7178-PC",
                    "type": "synonym"
                },
                {
                    "name": "Protein heldup",
                    "type": "synonym"
                },
                {
                    "name": "Protein wings apart-A",
                    "type": "synonym"
                },
                {
                    "name": "Tn I",
                    "type": "synonym"
                },
                {
                    "name": "flightless H",
                    "type": "synonym"
                },
                {
                    "name": "flightless-H",
                    "type": "synonym"
                },
                {
                    "name": "haplo-lethal region I",
                    "type": "synonym"
                },
                {
                    "name": "held up",
                    "type": "synonym"
                },
                {
                    "name": "held-up2",
                    "type": "synonym"
                },
                {
                    "name": "heldup-a",
                    "type": "synonym"
                },
                {
                    "name": "troponin I",
                    "type": "synonym"
                },
                {
                    "name": "troponin-I",
                    "type": "synonym"
                },
                {
                    "name": "wings up A, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "wings up",
                    "type": "synonym"
                },
                {
                    "name": "wings-up A",
                    "type": "synonym"
                },
                {
                    "name": "wupA-PC",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "wupA",
                    "type": "recommended"
                },
                {
                    "name": "CG7178",
                    "type": "synonym"
                },
                {
                    "name": "DROTROPONI",
                    "type": "synonym"
                },
                {
                    "name": "DmTpnI",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7178",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG7178",
                    "type": "synonym"
                },
                {
                    "name": "HDP",
                    "type": "synonym"
                },
                {
                    "name": "HL-I",
                    "type": "synonym"
                },
                {
                    "name": "HL08042",
                    "type": "synonym"
                },
                {
                    "name": "HLI",
                    "type": "synonym"
                },
                {
                    "name": "Hdp",
                    "type": "synonym"
                },
                {
                    "name": "Tn I",
                    "type": "synonym"
                },
                {
                    "name": "TnI",
                    "type": "synonym"
                },
                {
                    "name": "TpnI",
                    "type": "synonym"
                },
                {
                    "name": "WupA",
                    "type": "synonym"
                },
                {
                    "name": "chrX:17947374..17947524",
                    "type": "synonym"
                },
                {
                    "name": "fliH",
                    "type": "synonym"
                },
                {
                    "name": "hdp-a",
                    "type": "synonym"
                },
                {
                    "name": "hdp2",
                    "type": "synonym"
                },
                {
                    "name": "hdp",
                    "type": "synonym"
                },
                {
                    "name": "wup-A",
                    "type": "synonym"
                },
                {
                    "name": "wupA",
                    "type": "synonym"
                },
                {
                    "name": "wupa",
                    "type": "synonym"
                }
            ],
            "record_id": "P36188-1",
            "evidence": [
                {
                    "id": "0111600",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111600"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111600"
}