{
    "disease_id": "DOID:0061199",
    "recommended_name": {
        "id": "DOID:0061199",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061199",
        "name": "Bethlem myopathy 1B",
        "description": "A Bethlem myopathy that has_material_basis_in heterozygous, compound heterozygous, or homozygous mutation in the COL6A2 gene on chromosome 21q22."
    },
    "synonyms": [
        {
            "id": "MONDO:0958233",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0958233",
            "name": "Bethlem myopathy 1B",
            "description": ""
        },
        {
            "id": "MIM:620725",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620725",
            "name": "Bethlem myopathy 1B",
            "description": "Bethlem myopathy 1B"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061199"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061199",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061199",
            "categories": []
        },
        {
            "id": "MONDO:0958233",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0958233",
            "categories": []
        },
        {
            "id": "MIM:620725",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620725",
            "categories": []
        }
    ],
    "proteins": [
        {
            "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": "0061199",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061199"
                }
            ]
        },
        {
            "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": "0061199",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061199"
                }
            ]
        },
        {
            "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": "620725",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620725"
                },
                {
                    "id": "0061199",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061199"
                }
            ]
        },
        {
            "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": "0061199",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061199"
                }
            ]
        },
        {
            "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": "0061199",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061199"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061199"
}