{
    "disease_id": "DOID:0110932",
    "recommended_name": {
        "id": "DOID:0110932",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110932",
        "name": "congenital myopathy 23",
        "description": "A congenital myopathy that has_material_basis_in heterozygous mutation in the TPM2 gene on chromosome 9p13."
    },
    "synonyms": [
        {
            "id": "DOID:0110932",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110932",
            "name": "NEM4",
            "description": ""
        },
        {
            "id": "DOID:0110932",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110932",
            "name": "nemaline myopathy 4, autosomal dominant",
            "description": ""
        },
        {
            "id": "DOID:0110932",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110932",
            "name": "CAP myopathy 2",
            "description": ""
        },
        {
            "id": "DOID:0110932",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110932",
            "name": "nemaline myopathy 4",
            "description": ""
        },
        {
            "id": "MONDO:0012240",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012240",
            "name": "congenital myopathy 23",
            "description": "Any nemaline myopathy in which the cause of the disease is a mutation in the TPM2 gene."
        },
        {
            "id": "MONDO:0012240",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012240",
            "name": "CAPM2",
            "description": ""
        },
        {
            "id": "MONDO:0012240",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012240",
            "name": "NEM4",
            "description": ""
        },
        {
            "id": "MONDO:0012240",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012240",
            "name": "TPM2 nemaline myopathy",
            "description": ""
        },
        {
            "id": "MONDO:0012240",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012240",
            "name": "nemaline myopathy 4",
            "description": ""
        },
        {
            "id": "MONDO:0012240",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012240",
            "name": "nemaline myopathy caused by mutation in TPM2",
            "description": ""
        },
        {
            "id": "MONDO:0012240",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012240",
            "name": "nemaline myopathy type 4",
            "description": ""
        },
        {
            "id": "MIM:609285",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/609285",
            "name": "Congenital myopathy 23",
            "description": "Congenital myopathy 23"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110932"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110932",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110932",
            "categories": []
        },
        {
            "id": "MONDO:0012240",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012240",
            "categories": []
        },
        {
            "id": "MIM:609285",
            "database": "MIM",
            "url": "https://www.omim.org/entry/609285",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P58774-1",
            "uniprot_ac": "P58774",
            "uniprot_id": "TPM2_MOUSE",
            "refseq_ac": "NP_033442",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tropomyosin beta chain",
                    "type": "recommended"
                },
                {
                    "name": "Beta-tropomyosin",
                    "type": "synonym"
                },
                {
                    "name": "Tropomyosin-2",
                    "type": "synonym"
                },
                {
                    "name": "tropomyosin beta chain isoform Tpm2.2st",
                    "type": "synonym"
                },
                {
                    "name": "tropomyosin beta chain",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tpm2",
                    "type": "recommended"
                },
                {
                    "name": "Tpm-2",
                    "type": "synonym"
                },
                {
                    "name": "Tpm2",
                    "type": "synonym"
                },
                {
                    "name": "Trop-2",
                    "type": "synonym"
                }
            ],
            "record_id": "P58774-1",
            "evidence": [
                {
                    "id": "0110932",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110932"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P07951-1",
            "uniprot_ac": "P07951",
            "uniprot_id": "TPM2_HUMAN",
            "refseq_ac": "NP_003280",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tropomyosin beta chain",
                    "type": "recommended"
                },
                {
                    "name": "Beta-tropomyosin",
                    "type": "synonym"
                },
                {
                    "name": "Tropomyosin-2",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory protein Li 273",
                    "type": "synonym"
                },
                {
                    "name": "nemaline myopathy type 4",
                    "type": "synonym"
                },
                {
                    "name": "tropomyosin 2 (beta)",
                    "type": "synonym"
                },
                {
                    "name": "tropomyosin beta chain isoform Tpm2.2st",
                    "type": "synonym"
                },
                {
                    "name": "tropomyosin beta chain",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TPM2",
                    "type": "recommended"
                },
                {
                    "name": "AMCD1",
                    "type": "synonym"
                },
                {
                    "name": "CMYO23",
                    "type": "synonym"
                },
                {
                    "name": "CMYP23",
                    "type": "synonym"
                },
                {
                    "name": "DA1",
                    "type": "synonym"
                },
                {
                    "name": "DA2B4",
                    "type": "synonym"
                },
                {
                    "name": "DA2B",
                    "type": "synonym"
                },
                {
                    "name": "HEL-S-273",
                    "type": "synonym"
                },
                {
                    "name": "NEM4",
                    "type": "synonym"
                },
                {
                    "name": "TMSB",
                    "type": "synonym"
                },
                {
                    "name": "TPM2",
                    "type": "synonym"
                }
            ],
            "record_id": "P07951-1",
            "evidence": [
                {
                    "id": "609285",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/609285"
                },
                {
                    "id": "0110932",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110932"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P17536-1",
            "uniprot_ac": "P17536",
            "uniprot_id": "TPM1_YEAST",
            "refseq_ac": "NP_014320",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tropomyosin-1",
                    "type": "recommended"
                },
                {
                    "name": "tropomyosin TPM1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TPM1",
                    "type": "recommended"
                },
                {
                    "name": "N2332",
                    "type": "synonym"
                },
                {
                    "name": "TPM1",
                    "type": "synonym"
                }
            ],
            "record_id": "P17536-1",
            "evidence": [
                {
                    "id": "0110932",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110932"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P58775-1",
            "uniprot_ac": "P58775",
            "uniprot_id": "TPM2_RAT",
            "refseq_ac": "NP_001019516",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tropomyosin beta chain",
                    "type": "recommended"
                },
                {
                    "name": "Beta-tropomyosin",
                    "type": "synonym"
                },
                {
                    "name": "Tropomyosin-2",
                    "type": "synonym"
                },
                {
                    "name": "beta-tropomyosin",
                    "type": "synonym"
                },
                {
                    "name": "tropomyosin 2, beta",
                    "type": "synonym"
                },
                {
                    "name": "tropomyosin beta chain isoform Tpm2.1sm/cy",
                    "type": "synonym"
                },
                {
                    "name": "tropomyosin beta chain",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tpm2",
                    "type": "recommended"
                },
                {
                    "name": "Tpm2",
                    "type": "synonym"
                }
            ],
            "record_id": "P58775-1",
            "evidence": [
                {
                    "id": "0110932",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110932"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P09491-1",
            "uniprot_ac": "P09491",
            "uniprot_id": "TPM2_DROME",
            "refseq_ac": "NP_001262592",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tropomyosin-2",
                    "type": "recommended"
                },
                {
                    "name": "CG4843-PF",
                    "type": "synonym"
                },
                {
                    "name": "Tm2-PF",
                    "type": "synonym"
                },
                {
                    "name": "Tropomyosin I",
                    "type": "synonym"
                },
                {
                    "name": "Tropomyosin-2",
                    "type": "synonym"
                },
                {
                    "name": "lethal(3)nc99Eb",
                    "type": "synonym"
                },
                {
                    "name": "tropomyosin 127",
                    "type": "synonym"
                },
                {
                    "name": "tropomyosin 2, isoform F",
                    "type": "synonym"
                },
                {
                    "name": "tropomyosin I",
                    "type": "synonym"
                },
                {
                    "name": "tropomyosin2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tm2",
                    "type": "recommended"
                },
                {
                    "name": "CG4843",
                    "type": "synonym"
                },
                {
                    "name": "DROTROPI1",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4843",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4843",
                    "type": "synonym"
                },
                {
                    "name": "IP16005p",
                    "type": "synonym"
                },
                {
                    "name": "Ifm(3)3",
                    "type": "synonym"
                },
                {
                    "name": "Ifm(3)5",
                    "type": "synonym"
                },
                {
                    "name": "Ifm-TmI",
                    "type": "synonym"
                },
                {
                    "name": "TM2",
                    "type": "synonym"
                },
                {
                    "name": "Tm127",
                    "type": "synonym"
                },
                {
                    "name": "Tm2",
                    "type": "synonym"
                },
                {
                    "name": "TmII",
                    "type": "synonym"
                },
                {
                    "name": "TmI",
                    "type": "synonym"
                },
                {
                    "name": "Tm",
                    "type": "synonym"
                },
                {
                    "name": "Tn-H",
                    "type": "synonym"
                },
                {
                    "name": "dro Tm",
                    "type": "synonym"
                },
                {
                    "name": "l(3)nc99Eb",
                    "type": "synonym"
                },
                {
                    "name": "mTmI",
                    "type": "synonym"
                }
            ],
            "record_id": "P09491-1",
            "evidence": [
                {
                    "id": "0110932",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110932"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P49455-1",
            "uniprot_ac": "P49455",
            "uniprot_id": "TPM4_DROME",
            "refseq_ac": "NP_732005",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tropomyosin-1, isoforms 33/34",
                    "type": "recommended"
                },
                {
                    "name": "CG4898-PF",
                    "type": "synonym"
                },
                {
                    "name": "Tm1-PF",
                    "type": "synonym"
                },
                {
                    "name": "Tropomyosin II",
                    "type": "synonym"
                },
                {
                    "name": "Tropomyosin-1",
                    "type": "synonym"
                },
                {
                    "name": "Tropomyosin1",
                    "type": "synonym"
                },
                {
                    "name": "cytoplasmic tropomyosin",
                    "type": "synonym"
                },
                {
                    "name": "cytoskeletal tropomyosin",
                    "type": "synonym"
                },
                {
                    "name": "tropomyosin 1, isoform F",
                    "type": "synonym"
                },
                {
                    "name": "tropomyosin II",
                    "type": "synonym"
                },
                {
                    "name": "tropomyosin I",
                    "type": "synonym"
                },
                {
                    "name": "tropomyosinII",
                    "type": "synonym"
                },
                {
                    "name": "tropomysin II",
                    "type": "synonym"
                },
                {
                    "name": "troponin H",
                    "type": "synonym"
                },
                {
                    "name": "troponin-H isoform 34",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tm1",
                    "type": "recommended"
                },
                {
                    "name": "10",
                    "type": "synonym"
                },
                {
                    "name": "1305/10",
                    "type": "synonym"
                },
                {
                    "name": "2299",
                    "type": "synonym"
                },
                {
                    "name": "BcDNA:GH09289",
                    "type": "synonym"
                },
                {
                    "name": "BcDNA:LD37158",
                    "type": "synonym"
                },
                {
                    "name": "BcDNA:SD21996",
                    "type": "synonym"
                },
                {
                    "name": "CG4898",
                    "type": "synonym"
                },
                {
                    "name": "Dm Tm1",
                    "type": "synonym"
                },
                {
                    "name": "Dm TmH33",
                    "type": "synonym"
                },
                {
                    "name": "Dm TmH34",
                    "type": "synonym"
                },
                {
                    "name": "DmTm1",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4898",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4898",
                    "type": "synonym"
                },
                {
                    "name": "PmI",
                    "type": "synonym"
                },
                {
                    "name": "TM1",
                    "type": "synonym"
                },
                {
                    "name": "TMII",
                    "type": "synonym"
                },
                {
                    "name": "TM",
                    "type": "synonym"
                },
                {
                    "name": "Tm1",
                    "type": "synonym"
                },
                {
                    "name": "TmH-33",
                    "type": "synonym"
                },
                {
                    "name": "TmH-34",
                    "type": "synonym"
                },
                {
                    "name": "TmH33",
                    "type": "synonym"
                },
                {
                    "name": "TmH34",
                    "type": "synonym"
                },
                {
                    "name": "TmH",
                    "type": "synonym"
                },
                {
                    "name": "TmII",
                    "type": "synonym"
                },
                {
                    "name": "Tmr33",
                    "type": "synonym"
                },
                {
                    "name": "Tmr34",
                    "type": "synonym"
                },
                {
                    "name": "Tm",
                    "type": "synonym"
                },
                {
                    "name": "TnH-33",
                    "type": "synonym"
                },
                {
                    "name": "TnH-34",
                    "type": "synonym"
                },
                {
                    "name": "TnH",
                    "type": "synonym"
                },
                {
                    "name": "cTM",
                    "type": "synonym"
                },
                {
                    "name": "cTmII",
                    "type": "synonym"
                },
                {
                    "name": "cTm",
                    "type": "synonym"
                },
                {
                    "name": "chr3R:11122272..11122408",
                    "type": "synonym"
                },
                {
                    "name": "l(3)02299",
                    "type": "synonym"
                },
                {
                    "name": "l(3)S130510",
                    "type": "synonym"
                },
                {
                    "name": "l(3)s2958",
                    "type": "synonym"
                },
                {
                    "name": "mTmII",
                    "type": "synonym"
                },
                {
                    "name": "region 3",
                    "type": "synonym"
                },
                {
                    "name": "tm1",
                    "type": "synonym"
                },
                {
                    "name": "tmII",
                    "type": "synonym"
                },
                {
                    "name": "tropomyosin",
                    "type": "synonym"
                }
            ],
            "record_id": "P49455-1",
            "evidence": [
                {
                    "id": "0110932",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110932"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110932"
}