{
    "disease_id": "DOID:0061198",
    "recommended_name": {
        "id": "DOID:0061198",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061198",
        "name": "Bethlem myopathy 1A",
        "description": "A Bethlem myopathy that has_material_basis_in heterozygous mutation in the COL6A1 gene on chromosome 21q22."
    },
    "synonyms": [
        {
            "id": "MONDO:0024530",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024530",
            "name": "Bethlem myopathy 1A",
            "description": ""
        },
        {
            "id": "MONDO:0024530",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024530",
            "name": "Bethlem myopathy 1",
            "description": ""
        },
        {
            "id": "MONDO:0024530",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024530",
            "name": "BTHLM1",
            "description": ""
        },
        {
            "id": "MIM:158810",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/158810",
            "name": "Bethlem myopathy 1A",
            "description": "Bethlem myopathy 1A"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061198"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061198",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061198",
            "categories": []
        },
        {
            "id": "MONDO:0024530",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024530",
            "categories": []
        },
        {
            "id": "MIM:158810",
            "database": "MIM",
            "url": "https://www.omim.org/entry/158810",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AB32U3A8-1",
            "uniprot_ac": "A0AB32U3A8",
            "uniprot_id": "A0AB32U3A8_DANRE",
            "refseq_ac": "XP_068080339",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Collagen alpha-1(VI) chain",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-1(VI) chain",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "col6a1",
                    "type": "recommended"
                },
                {
                    "name": "col6a1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB32U3A8-1",
            "evidence": [
                {
                    "id": "0061198",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061198"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M9PVL2-1",
            "uniprot_ac": "A0A8M9PVL2",
            "uniprot_id": "A0A8M9PVL2_DANRE",
            "refseq_ac": "XP_021335547",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Collagen alpha-2(VI) chain",
                    "type": "recommended"
                },
                {
                    "name": "collagen alpha-2(VI) chain isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "col6a2",
                    "type": "recommended"
                },
                {
                    "name": "col6a2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9PVL2-1",
            "evidence": [
                {
                    "id": "0061198",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061198"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q04857-1",
            "uniprot_ac": "Q04857",
            "uniprot_id": "CO6A1_MOUSE",
            "refseq_ac": "NP_034063",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Collagen alpha-1(VI) chain",
                    "type": "recommended"
                },
                {
                    "name": "collagen alpha-1(VI) chain precursor",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-1(VI) chain",
                    "type": "synonym"
                },
                {
                    "name": "procollagen, type VI, alpha 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Col6a1",
                    "type": "recommended"
                },
                {
                    "name": "Col6a-1",
                    "type": "synonym"
                },
                {
                    "name": "Col6a1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q04857-1",
            "evidence": [
                {
                    "id": "0061198",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061198"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q02788-1",
            "uniprot_ac": "Q02788",
            "uniprot_id": "CO6A2_MOUSE",
            "refseq_ac": "NP_001334136",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Collagen alpha-2(VI) chain",
                    "type": "recommended"
                },
                {
                    "name": "collagen alpha-2(VI) chain isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-2(VI) chain",
                    "type": "synonym"
                },
                {
                    "name": "procollagen, type VI, alpha 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Col6a2",
                    "type": "recommended"
                },
                {
                    "name": "Col6a-2",
                    "type": "synonym"
                },
                {
                    "name": "Col6a2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q02788-1",
            "evidence": [
                {
                    "id": "0061198",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061198"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P12109-1",
            "uniprot_ac": "P12109",
            "uniprot_id": "CO6A1_HUMAN",
            "refseq_ac": "NP_001839",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Collagen alpha-1(VI) chain",
                    "type": "recommended"
                },
                {
                    "name": "alpha 1 (VI) chain (61 AA)",
                    "type": "synonym"
                },
                {
                    "name": "collagen VI, alpha-1 polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-1(VI) chain precursor",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-1(VI) chain",
                    "type": "synonym"
                },
                {
                    "name": "collagen, type VI, alpha 1",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COL6A1",
                    "type": "recommended"
                },
                {
                    "name": "BTHLM1A",
                    "type": "synonym"
                },
                {
                    "name": "BTHLM1",
                    "type": "synonym"
                },
                {
                    "name": "COL6A1",
                    "type": "synonym"
                },
                {
                    "name": "OPLL",
                    "type": "synonym"
                },
                {
                    "name": "UCHMD1A",
                    "type": "synonym"
                },
                {
                    "name": "UCHMD1",
                    "type": "synonym"
                }
            ],
            "record_id": "P12109-1",
            "evidence": [
                {
                    "id": "158810",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/158810"
                },
                {
                    "id": "0061198",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061198"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZUL3-1",
            "uniprot_ac": "D3ZUL3",
            "uniprot_id": "D3ZUL3_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Collagen alpha-1(VI) chain",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Col6a1",
                    "type": "recommended"
                }
            ],
            "record_id": "D3ZUL3-1",
            "evidence": [
                {
                    "id": "0061198",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061198"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6ALT7-1",
            "uniprot_ac": "A0A8I6ALT7",
            "uniprot_id": "A0A8I6ALT7_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Collagen alpha-2(VI) chain",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Col6a2",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A8I6ALT7-1",
            "evidence": [
                {
                    "id": "0061198",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061198"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P49002-1",
            "uniprot_ac": "P49002",
            "uniprot_id": "BMP3_RAT",
            "refseq_ac": "NP_058801",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Bone morphogenetic protein 3",
                    "type": "recommended"
                },
                {
                    "name": "BMP-3",
                    "type": "synonym"
                },
                {
                    "name": "bone morphogenetic protein 3 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bmp3",
                    "type": "recommended"
                },
                {
                    "name": "Bmp-3",
                    "type": "synonym"
                },
                {
                    "name": "Bmp3",
                    "type": "synonym"
                },
                {
                    "name": "PBMP3",
                    "type": "synonym"
                }
            ],
            "record_id": "P49002-1",
            "evidence": [
                {
                    "id": "0061198",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061198"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P49001-1",
            "uniprot_ac": "P49001",
            "uniprot_id": "BMP2_RAT",
            "refseq_ac": "NP_058874",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Bone morphogenetic protein 2",
                    "type": "recommended"
                },
                {
                    "name": "BMP-2A",
                    "type": "synonym"
                },
                {
                    "name": "BMP-2",
                    "type": "synonym"
                },
                {
                    "name": "Bone morphogenetic protein 2A",
                    "type": "synonym"
                },
                {
                    "name": "bone morphogenetic protein 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "bone morphogenetic protein 2A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bmp2",
                    "type": "recommended"
                },
                {
                    "name": "Bmp-2",
                    "type": "synonym"
                },
                {
                    "name": "Bmp2",
                    "type": "synonym"
                }
            ],
            "record_id": "P49001-1",
            "evidence": [
                {
                    "id": "0061198",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061198"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P12110-1",
            "uniprot_ac": "P12110",
            "uniprot_id": "CO6A2_HUMAN",
            "refseq_ac": "NP_001840",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Collagen alpha-2(VI) chain",
                    "type": "recommended"
                },
                {
                    "name": "collagen VI, alpha-2 polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-2(VI) chain isoform 2C2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-2(VI) chain",
                    "type": "synonym"
                },
                {
                    "name": "collagen, type VI, alpha 2",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                },
                {
                    "name": "human mRNA for collagen VI alpha-2 C-terminal globular domain",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COL6A2",
                    "type": "recommended"
                },
                {
                    "name": "BTHLM1B",
                    "type": "synonym"
                },
                {
                    "name": "BTHLM1",
                    "type": "synonym"
                },
                {
                    "name": "COL6A2",
                    "type": "synonym"
                },
                {
                    "name": "PP3610",
                    "type": "synonym"
                },
                {
                    "name": "UCMD1B",
                    "type": "synonym"
                },
                {
                    "name": "UCMD1",
                    "type": "synonym"
                }
            ],
            "record_id": "P12110-1",
            "evidence": [
                {
                    "id": "0061198",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061198"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061198"
}