{
    "disease_id": "DOID:0081337",
    "recommended_name": {
        "id": "DOID:0081337",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081337",
        "name": "congenital myopathy",
        "description": "A myopathy that is characterized by hypotonia and weakness, usually present from birth."
    },
    "synonyms": [],
    "children": [
        {
            "id": "DOID:0060346",
            "label": "congenital myopathy 13",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0061256",
            "label": "congenital myopathy 25",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0061257",
            "label": "congenital myopathy 26",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0061258",
            "label": "congenital myopathy 27",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0061259",
            "label": "congenital myopathy 28",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080101",
            "label": "Compton-North congenital myopathy",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080102",
            "label": "congenital myopathy 4A",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080719",
            "label": "congenital myopathy 6",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080991",
            "label": "congenital myopathy 1B",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0081339",
            "label": "congenital myopathy 2B",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0081340",
            "label": "congenital myopathy 2C",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0081341",
            "label": "congenital myopathy 5",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0081342",
            "label": "congenital myopathy 8",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0081343",
            "label": "congenital myopathy 9A",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0081344",
            "label": "congenital myopathy 9B",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0081345",
            "label": "congenital myopathy 10B",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0081346",
            "label": "congenital myopathy 14",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0081347",
            "label": "congenital myopathy 15",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0081348",
            "label": "congenital myopathy 16",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0081349",
            "label": "congenital myopathy 17",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0081350",
            "label": "congenital myopathy 18",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0081351",
            "label": "congenital myopathy 19",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0081352",
            "label": "congenital myopathy 20",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0081353",
            "label": "congenital myopathy 21",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0081354",
            "label": "congenital myopathy 22A",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0081355",
            "label": "congenital myopathy 22B",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110926",
            "label": "congenital myopathy 4B",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110932",
            "label": "congenital myopathy 23",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111267",
            "label": "hyaline body myopathy",
            "link_status": false,
            "children": [
                {
                    "id": "DOID:0111268",
                    "label": "autosomal recessive hyaline body myopathy",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0111269",
                    "label": "autosomal dominant hyaline body myopathy",
                    "link_status": true,
                    "children": []
                }
            ]
        },
        {
            "id": "DOID:0111333",
            "label": "congenital myopathy 10A",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:3191",
            "label": "nemaline myopathy",
            "link_status": true,
            "children": [
                {
                    "id": "DOID:0081374",
                    "label": "nemaline myopathy 5B",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0081375",
                    "label": "nemaline myopathy 5C",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0110927",
                    "label": "nemaline myopathy 3",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0110928",
                    "label": "nemaline myopathy 2",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0110929",
                    "label": "nemaline myopathy 9",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0110930",
                    "label": "nemaline myopathy 8",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0110931",
                    "label": "nemaline myopathy 10",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0110933",
                    "label": "nemaline myopathy 11",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0110934",
                    "label": "nemaline myopathy 7",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0110935",
                    "label": "nemaline myopathy 6",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0110936",
                    "label": "nemaline myopathy 5A",
                    "link_status": true,
                    "children": []
                }
            ]
        },
        {
            "id": "DOID:3529",
            "label": "congenital myopathy 1A",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:422",
            "label": "congenital structural myopathy",
            "link_status": true,
            "children": [
                {
                    "id": "DOID:14717",
                    "label": "centronuclear myopathy",
                    "link_status": true,
                    "children": [
                        {
                            "id": "DOID:0111216",
                            "label": "autosomal recessive centronuclear myopathy",
                            "link_status": true,
                            "children": [
                                {
                                    "id": "DOID:0111220",
                                    "label": "centronuclear myopathy 2",
                                    "link_status": true,
                                    "children": []
                                },
                                {
                                    "id": "DOID:0111221",
                                    "label": "centronuclear myopathy 6 with fiber-type disproportion",
                                    "link_status": true,
                                    "children": []
                                },
                                {
                                    "id": "DOID:0111222",
                                    "label": "centronuclear myopathy 5",
                                    "link_status": true,
                                    "children": []
                                }
                            ]
                        },
                        {
                            "id": "DOID:0111217",
                            "label": "autosomal dominant centronuclear myopathy",
                            "link_status": false,
                            "children": [
                                {
                                    "id": "DOID:0111223",
                                    "label": "centronuclear myopathy 1",
                                    "link_status": true,
                                    "children": []
                                },
                                {
                                    "id": "DOID:0111224",
                                    "label": "centronuclear myopathy 4",
                                    "link_status": true,
                                    "children": []
                                }
                            ]
                        },
                        {
                            "id": "DOID:0111225",
                            "label": "centronuclear myopathy X-linked",
                            "link_status": true,
                            "children": []
                        }
                    ]
                }
            ]
        }
    ],
    "id_list": [
        "DOID:0111216",
        "DOID:0080991",
        "DOID:0110927",
        "DOID:0110929",
        "DOID:0110931",
        "DOID:0110934",
        "DOID:0081375",
        "DOID:0110936",
        "DOID:0081347",
        "DOID:0080719",
        "DOID:0081350",
        "DOID:0081343",
        "DOID:0081349",
        "DOID:0081346",
        "DOID:0111222",
        "DOID:0111224",
        "DOID:0081355",
        "DOID:0061259",
        "DOID:0081348",
        "DOID:0061256",
        "DOID:3529",
        "DOID:0081337",
        "DOID:0110932",
        "DOID:0111269",
        "DOID:0081374",
        "DOID:0081340",
        "DOID:0110935",
        "DOID:0110926",
        "DOID:422",
        "DOID:0110928",
        "DOID:0081341",
        "DOID:0060346",
        "DOID:0110930",
        "DOID:0080101",
        "DOID:0111268",
        "DOID:0081345",
        "DOID:0111333",
        "DOID:3191",
        "DOID:0111225",
        "DOID:0111223",
        "DOID:0081352",
        "DOID:0081339",
        "DOID:0081344",
        "DOID:0081342",
        "DOID:0111267",
        "DOID:0111217",
        "DOID:0081354",
        "DOID:14717",
        "DOID:0081353",
        "DOID:0061257",
        "DOID:0111220",
        "DOID:0081351",
        "DOID:0110933",
        "DOID:0061258",
        "DOID:0080102",
        "DOID:0111221"
    ],
    "unlinked_id_list": [
        "DOID:0111217",
        "DOID:0111267"
    ],
    "crossref": [
        {
            "id": "DOID:0081337",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081337",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q3Y4E2-1",
            "uniprot_ac": "Q3Y4E2",
            "uniprot_id": "SELN_DANRE",
            "refseq_ac": "NP_001004294",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Selenoprotein N",
                    "type": "recommended"
                },
                {
                    "name": "SePN",
                    "type": "synonym"
                },
                {
                    "name": "SelN",
                    "type": "synonym"
                },
                {
                    "name": "selenoprotein N, 1",
                    "type": "synonym"
                },
                {
                    "name": "selenoprotein N",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "selenon",
                    "type": "recommended"
                },
                {
                    "name": "SePN",
                    "type": "synonym"
                },
                {
                    "name": "cb686",
                    "type": "synonym"
                },
                {
                    "name": "selN",
                    "type": "synonym"
                },
                {
                    "name": "selenon",
                    "type": "synonym"
                },
                {
                    "name": "sepn1",
                    "type": "synonym"
                },
                {
                    "name": "sepn",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb06g01",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb73d02",
                    "type": "synonym"
                },
                {
                    "name": "wu:fv41b08",
                    "type": "synonym"
                },
                {
                    "name": "zgc:101091",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3Y4E2-1",
            "evidence": [
                {
                    "id": "0081337",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081337"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2L0Q2-1",
            "uniprot_ac": "A0A0G2L0Q2",
            "uniprot_id": "A0A0G2L0Q2_DANRE",
            "refseq_ac": "NP_001314793",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase",
                    "type": "recommended"
                },
                {
                    "name": "4.2.1.134",
                    "type": "synonym"
                },
                {
                    "name": "protein tyrosine phosphatase-like (proline instead of catalytic arginine), member A",
                    "type": "synonym"
                },
                {
                    "name": "protein tyrosine phosphatase-like, member A",
                    "type": "synonym"
                },
                {
                    "name": "very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "hacd1",
                    "type": "recommended"
                },
                {
                    "name": "hacd1",
                    "type": "synonym"
                },
                {
                    "name": "ptpla",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0G2L0Q2-1",
            "evidence": [
                {
                    "id": "0081337",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081337"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0AB13ABV2-1",
            "uniprot_ac": "A0AB13ABV2",
            "uniprot_id": "A0AB13ABV2_DANRE",
            "refseq_ac": "NP_001417805",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "LIM domain-binding protein 3a isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "LIM-domain binding factor 3, like",
                    "type": "synonym"
                },
                {
                    "name": "LIM-domain binding factor 3a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ldb3a",
                    "type": "recommended"
                },
                {
                    "name": "ZASP",
                    "type": "synonym"
                },
                {
                    "name": "cypher",
                    "type": "synonym"
                },
                {
                    "name": "hm:zehn1639",
                    "type": "synonym"
                },
                {
                    "name": "ldb3a",
                    "type": "synonym"
                },
                {
                    "name": "ldb3",
                    "type": "synonym"
                },
                {
                    "name": "zehn1639",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB13ABV2-1",
            "evidence": [
                {
                    "id": "0081337",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081337"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0AC58J6F6-1",
            "uniprot_ac": "A0AC58J6F6",
            "uniprot_id": "A0AC58J6F6_DANRE",
            "refseq_ac": "XP_073802054",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myosin-binding protein C, slow-type",
                    "type": "recommended"
                },
                {
                    "name": "C-protein, skeletal muscle slow isoform",
                    "type": "synonym"
                },
                {
                    "name": "myosin-binding protein C, slow-type isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mybpc1",
                    "type": "recommended"
                },
                {
                    "name": "mybpc1",
                    "type": "synonym"
                },
                {
                    "name": "zgc:92073",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58J6F6-1",
            "evidence": [
                {
                    "id": "0081337",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081337"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A571BEN1-1",
            "uniprot_ac": "A0A571BEN1",
            "uniprot_id": "A0A571BEN1_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myosin-binding protein C, slow-type",
                    "type": "recommended"
                },
                {
                    "name": "C-protein, skeletal muscle slow isoform",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mybpc1",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A571BEN1-1",
            "evidence": [
                {
                    "id": "0081337",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081337"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9JKS4-1",
            "uniprot_ac": "Q9JKS4",
            "uniprot_id": "LDB3_MOUSE",
            "refseq_ac": "NP_001034160",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "LIM domain-binding protein 3",
                    "type": "recommended"
                },
                {
                    "name": "LIM domain-binding protein 3 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "LIM domain-binding protein 3",
                    "type": "synonym"
                },
                {
                    "name": "PDZ-LIM domain protein",
                    "type": "synonym"
                },
                {
                    "name": "Protein cypher",
                    "type": "synonym"
                },
                {
                    "name": "Protein oracle",
                    "type": "synonym"
                },
                {
                    "name": "Z-band alternatively spliced PDZ-motif protein",
                    "type": "synonym"
                },
                {
                    "name": "cypher",
                    "type": "synonym"
                },
                {
                    "name": "oracle protein",
                    "type": "synonym"
                },
                {
                    "name": "protein cypher",
                    "type": "synonym"
                },
                {
                    "name": "protein oracle",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ldb3",
                    "type": "recommended"
                },
                {
                    "name": "Kiaa0613",
                    "type": "synonym"
                },
                {
                    "name": "Ldb3",
                    "type": "synonym"
                },
                {
                    "name": "PDLIM6",
                    "type": "synonym"
                },
                {
                    "name": "ZASP",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JKS4-1",
            "evidence": [
                {
                    "id": "0081337",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081337"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9QY80-1",
            "uniprot_ac": "Q9QY80",
            "uniprot_id": "HACD1_MOUSE",
            "refseq_ac": "NP_038963",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 1",
                    "type": "recommended"
                },
                {
                    "name": "3-hydroxyacyl-CoA dehydratase 1",
                    "type": "synonym"
                },
                {
                    "name": "4.2.1.134",
                    "type": "synonym"
                },
                {
                    "name": "HACD1",
                    "type": "synonym"
                },
                {
                    "name": "Protein-tyrosine phosphatase-like member A",
                    "type": "synonym"
                },
                {
                    "name": "protein tyrosine phosphatase-like (proline instead of catalytic arginine), member a",
                    "type": "synonym"
                },
                {
                    "name": "protein-tyrosine phosphatase-like member A",
                    "type": "synonym"
                },
                {
                    "name": "very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 1",
                    "type": "synonym"
                },
                {
                    "name": "very-long-chain (3R)-3-hydroxyacyl-[acyl-carrier protein] dehydratase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hacd1",
                    "type": "recommended"
                },
                {
                    "name": "Hacd1",
                    "type": "synonym"
                },
                {
                    "name": "Ptpla",
                    "type": "synonym"
                }
            ],
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                },
                {
                    "name": "very-long-chain (3R)-3-hydroxyacyl-[acyl-carrier protein] dehydratase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HACD1",
                    "type": "recommended"
                },
                {
                    "name": "CAP",
                    "type": "synonym"
                },
                {
                    "name": "CMYO11",
                    "type": "synonym"
                },
                {
                    "name": "CMYP11",
                    "type": "synonym"
                },
                {
                    "name": "HACD1",
                    "type": "synonym"
                },
                {
                    "name": "MYONP",
                    "type": "synonym"
                },
                {
                    "name": "PTPLA",
                    "type": "synonym"
                }
            ],
            "record_id": "B0YJ81-1",
            "evidence": [
                {
                    "id": "0081337",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081337"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081337"
}