{
    "disease_id": "DOID:0110926",
    "recommended_name": {
        "id": "DOID:0110926",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110926",
        "name": "congenital myopathy 4B",
        "description": "A congenital myopathy that is characterized by the onset of muscle weakness in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the alpha-tropomyosin-3 gene (TPM3) on chromosome 1q21."
    },
    "synonyms": [
        {
            "id": "DOID:0110926",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110926",
            "name": "NEM1",
            "description": ""
        },
        {
            "id": "DOID:0110926",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110926",
            "name": "nemaline myopathy 1, autosomal dominant or recessive",
            "description": ""
        },
        {
            "id": "DOID:0110926",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110926",
            "name": "nemaline myopathy 1",
            "description": ""
        },
        {
            "id": "DOID:0110926",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110926",
            "name": "autosomal recessive congenital myopathy 4B",
            "description": ""
        },
        {
            "id": "MONDO:0012239",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012239",
            "name": "congenital myopathy 4B, autosomal recessive",
            "description": "Any congenital myopathy in which the cause of the disease is a mutation in the TPM3 gene."
        },
        {
            "id": "MONDO:0012239",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012239",
            "name": "TPM3 nemaline myopathy",
            "description": ""
        },
        {
            "id": "MONDO:0012239",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012239",
            "name": "nemaline myopathy caused by mutation in TPM3",
            "description": ""
        },
        {
            "id": "MONDO:0012239",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012239",
            "name": "NEM1",
            "description": ""
        },
        {
            "id": "MONDO:0012239",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012239",
            "name": "Nem1",
            "description": ""
        },
        {
            "id": "MONDO:0012239",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012239",
            "name": "nemaline myopathy 1",
            "description": ""
        },
        {
            "id": "MONDO:0012239",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012239",
            "name": "nemaline myopathy type 1",
            "description": ""
        },
        {
            "id": "MIM:609284",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/609284",
            "name": "Congenital myopathy 4B, autosomal recessive",
            "description": "Congenital myopathy 4B, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110926"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110926",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110926",
            "categories": []
        },
        {
            "id": "MONDO:0012239",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012239",
            "categories": []
        },
        {
            "id": "MIM:609284",
            "database": "MIM",
            "url": "https://www.omim.org/entry/609284",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A2R8Q650-1",
            "uniprot_ac": "A0A2R8Q650",
            "uniprot_id": "A0A2R8Q650_DANRE",
            "refseq_ac": "XP_005159432",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tropomyosin alpha-3 chain isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "tropomyosin alpha-3 chain isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tpm3",
                    "type": "recommended"
                },
                {
                    "name": "cb674",
                    "type": "synonym"
                },
                {
                    "name": "fa17b11",
                    "type": "synonym"
                },
                {
                    "name": "fb83b01",
                    "type": "synonym"
                },
                {
                    "name": "fk41e01",
                    "type": "synonym"
                },
                {
                    "name": "hm:zeh0298",
                    "type": "synonym"
                },
                {
                    "name": "tpm3",
                    "type": "synonym"
                },
                {
                    "name": "wu:fa17b11",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb83b01",
                    "type": "synonym"
                },
                {
                    "name": "wu:fk41e01",
                    "type": "synonym"
                },
                {
                    "name": "zeh0298",
                    "type": "synonym"
                },
                {
                    "name": "zgc:77592",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A2R8Q650-1",
            "evidence": [
                {
                    "id": "0110926",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110926"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P21107-1",
            "uniprot_ac": "P21107",
            "uniprot_id": "TPM3_MOUSE",
            "refseq_ac": "NP_001240667",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tropomyosin alpha-3 chain",
                    "type": "recommended"
                },
                {
                    "name": "Gamma-tropomyosin",
                    "type": "synonym"
                },
                {
                    "name": "Tropomyosin-3",
                    "type": "synonym"
                },
                {
                    "name": "gamma-tropomyosin",
                    "type": "synonym"
                },
                {
                    "name": "skalphaTM.2",
                    "type": "synonym"
                },
                {
                    "name": "tropomyosin 5",
                    "type": "synonym"
                },
                {
                    "name": "tropomyosin alpha-3 chain isoform Tpm3.1cy",
                    "type": "synonym"
                },
                {
                    "name": "tropomyosin alpha-3 chain",
                    "type": "synonym"
                },
                {
                    "name": "tropomyosin-3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tpm3",
                    "type": "recommended"
                },
                {
                    "name": "TM30nm",
                    "type": "synonym"
                },
                {
                    "name": "TMnm",
                    "type": "synonym"
                },
                {
                    "name": "Tm5NM",
                    "type": "synonym"
                },
                {
                    "name": "Tpm-5",
                    "type": "synonym"
                },
                {
                    "name": "Tpm3",
                    "type": "synonym"
                },
                {
                    "name": "Tpm5",
                    "type": "synonym"
                },
                {
                    "name": "Trop-5",
                    "type": "synonym"
                },
                {
                    "name": "gamma-TM",
                    "type": "synonym"
                },
                {
                    "name": "hTM30nm",
                    "type": "synonym"
                },
                {
                    "name": "hTMnm",
                    "type": "synonym"
                }
            ],
            "record_id": "P21107-1",
            "evidence": [
                {
                    "id": "0110926",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110926"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P06753-1",
            "uniprot_ac": "P06753",
            "uniprot_id": "TPM3_HUMAN",
            "refseq_ac": "NP_001036816",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tropomyosin alpha-3 chain",
                    "type": "recommended"
                },
                {
                    "name": "Gamma-tropomyosin",
                    "type": "synonym"
                },
                {
                    "name": "Tropomyosin-3",
                    "type": "synonym"
                },
                {
                    "name": "Tropomyosin-5",
                    "type": "synonym"
                },
                {
                    "name": "alpha-tropomyosin, slow skeletal",
                    "type": "synonym"
                },
                {
                    "name": "cytoskeletal tropomyosin TM30",
                    "type": "synonym"
                },
                {
                    "name": "epididymis luminal protein 189",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein Li 82p",
                    "type": "synonym"
                },
                {
                    "name": "hTM5",
                    "type": "synonym"
                },
                {
                    "name": "heat-stable cytoskeletal protein 30 kDa",
                    "type": "synonym"
                },
                {
                    "name": "tropomyosin 3 nu",
                    "type": "synonym"
                },
                {
                    "name": "tropomyosin alpha-3 chain isoform Tpm3.2cy",
                    "type": "synonym"
                },
                {
                    "name": "tropomyosin alpha-3 chain",
                    "type": "synonym"
                },
                {
                    "name": "tropomyosin gamma",
                    "type": "synonym"
                },
                {
                    "name": "tropomyosin-5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TPM3",
                    "type": "recommended"
                },
                {
                    "name": "CAPM1",
                    "type": "synonym"
                },
                {
                    "name": "CFTD",
                    "type": "synonym"
                },
                {
                    "name": "CMYO4A",
                    "type": "synonym"
                },
                {
                    "name": "CMYO4B",
                    "type": "synonym"
                },
                {
                    "name": "CMYP4A",
                    "type": "synonym"
                },
                {
                    "name": "CMYP4B",
                    "type": "synonym"
                },
                {
                    "name": "HEL-189",
                    "type": "synonym"
                },
                {
                    "name": "HEL-S-82p",
                    "type": "synonym"
                },
                {
                    "name": "NEM1",
                    "type": "synonym"
                },
                {
                    "name": "OK/SW-cl.5",
                    "type": "synonym"
                },
                {
                    "name": "TM-5",
                    "type": "synonym"
                },
                {
                    "name": "TM30nm",
                    "type": "synonym"
                },
                {
                    "name": "TM30",
                    "type": "synonym"
                },
                {
                    "name": "TM3",
                    "type": "synonym"
                },
                {
                    "name": "TM5",
                    "type": "synonym"
                },
                {
                    "name": "TPM3nu",
                    "type": "synonym"
                },
                {
                    "name": "TPM3",
                    "type": "synonym"
                },
                {
                    "name": "TPMsk3",
                    "type": "synonym"
                },
                {
                    "name": "TRK",
                    "type": "synonym"
                },
                {
                    "name": "hscp30",
                    "type": "synonym"
                }
            ],
            "record_id": "P06753-1",
            "evidence": [
                {
                    "id": "609284",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/609284"
                },
                {
                    "id": "0110926",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110926"
                }
            ]
        },
        {
            "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": "0110926",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110926"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q63610-1",
            "uniprot_ac": "Q63610",
            "uniprot_id": "TPM3_RAT",
            "refseq_ac": "NP_001288215",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tropomyosin alpha-3 chain",
                    "type": "recommended"
                },
                {
                    "name": "Gamma-tropomyosin",
                    "type": "synonym"
                },
                {
                    "name": "Tropomyosin-3",
                    "type": "synonym"
                },
                {
                    "name": "Tropomyosin-5",
                    "type": "synonym"
                },
                {
                    "name": "gamma-tropomyosin",
                    "type": "synonym"
                },
                {
                    "name": "nonmuscle tropomyosin 5",
                    "type": "synonym"
                },
                {
                    "name": "tropomyosin 3, gamma",
                    "type": "synonym"
                },
                {
                    "name": "tropomyosin alpha-3 chain isoform Tpm3.3cy",
                    "type": "synonym"
                },
                {
                    "name": "tropomyosin alpha-3 chain",
                    "type": "synonym"
                },
                {
                    "name": "tropomyosin non-muscle",
                    "type": "synonym"
                },
                {
                    "name": "tropomyosin-5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tpm3",
                    "type": "recommended"
                },
                {
                    "name": "TM30nm",
                    "type": "synonym"
                },
                {
                    "name": "Tpm-5",
                    "type": "synonym"
                },
                {
                    "name": "Tpm3",
                    "type": "synonym"
                },
                {
                    "name": "Tpm5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q63610-1",
            "evidence": [
                {
                    "id": "0110926",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110926"
                }
            ]
        },
        {
            "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": "0110926",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110926"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110926"
}