{
    "disease_id": "DOID:0060946",
    "recommended_name": {
        "id": "DOID:0060946",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060946",
        "name": "Ullrich congenital muscular dystrophy 1A",
        "description": "An Ullrich congenital muscular dystrophy characterized by generalized muscle weakness and striking hypermobility of distal joints in conjunction with variable contractures of more proximal joints and normal intelligence that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the COL6A1 gene on chromosome 21q22."
    },
    "synonyms": [
        {
            "id": "MONDO:0009681",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009681",
            "name": "Ullrich congenital muscular dystrophy 1A",
            "description": ""
        },
        {
            "id": "MONDO:0009681",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009681",
            "name": "Ullrich congenital muscular dystrophy type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009681",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009681",
            "name": "Ullrich congenital muscular dystrophy 1",
            "description": ""
        },
        {
            "id": "MONDO:0009681",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009681",
            "name": "UCMD1",
            "description": ""
        },
        {
            "id": "MIM:254090",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/254090",
            "name": "Ullrich congenital muscular dystrophy 1A",
            "description": "Ullrich congenital muscular dystrophy 1A"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060946"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060946",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060946",
            "categories": []
        },
        {
            "id": "MONDO:0009681",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009681",
            "categories": []
        },
        {
            "id": "MIM:254090",
            "database": "MIM",
            "url": "https://www.omim.org/entry/254090",
            "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": "0060946",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060946"
                }
            ]
        },
        {
            "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": "0060946",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060946"
                }
            ]
        },
        {
            "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": "254090",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/254090"
                },
                {
                    "id": "0060946",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060946"
                }
            ]
        },
        {
            "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": "0060946",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060946"
                }
            ]
        },
        {
            "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": "0060946",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060946"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060946"
}