{
    "disease_id": "DOID:0080727",
    "recommended_name": {
        "id": "DOID:0080727",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080727",
        "name": "Ehlers-Danlos syndrome arthrochalasia type 1",
        "description": "An Ehlers-Danlos syndrome that is characterized by hypermobility in infants with dislocations of both hips at birth and has_material_basis_in heterozygous mutation in the COL1A1 gene on chromosome 17q21."
    },
    "synonyms": [
        {
            "id": "MONDO:0020521",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020521",
            "name": "Ehlers-Danlos syndrome type 7A",
            "description": ""
        },
        {
            "id": "MONDO:0020521",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020521",
            "name": "EDS VIIA",
            "description": ""
        },
        {
            "id": "MIM:130060",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/130060",
            "name": "Ehlers-Danlos syndrome, arthrochalasia type, 1",
            "description": "Ehlers-Danlos syndrome, arthrochalasia type, 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080727"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080727",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080727",
            "categories": []
        },
        {
            "id": "MONDO:0020521",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020521",
            "categories": []
        },
        {
            "id": "MIM:130060",
            "database": "MIM",
            "url": "https://www.omim.org/entry/130060",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P11087-1",
            "uniprot_ac": "P11087",
            "uniprot_id": "CO1A1_MOUSE",
            "refseq_ac": "NP_031768",
            "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(I) chain",
                    "type": "recommended"
                },
                {
                    "name": "Alpha-1 type I collagen",
                    "type": "synonym"
                },
                {
                    "name": "alpha-1 type 1 collagen",
                    "type": "synonym"
                },
                {
                    "name": "alpha-1 type I collagen",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-1(I) chain preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-1(I) chain",
                    "type": "synonym"
                },
                {
                    "name": "procollagen, type I, alpha 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Col1a1",
                    "type": "recommended"
                },
                {
                    "name": "Col1a-1",
                    "type": "synonym"
                },
                {
                    "name": "Col1a1",
                    "type": "synonym"
                },
                {
                    "name": "Cola-1",
                    "type": "synonym"
                },
                {
                    "name": "Cola1",
                    "type": "synonym"
                },
                {
                    "name": "Mov-13",
                    "type": "synonym"
                },
                {
                    "name": "Mov13",
                    "type": "synonym"
                }
            ],
            "record_id": "P11087-1",
            "evidence": [
                {
                    "id": "0080727",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080727"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P02452-1",
            "uniprot_ac": "P02452",
            "uniprot_id": "CO1A1_HUMAN",
            "refseq_ac": "NP_000079",
            "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(I) chain",
                    "type": "recommended"
                },
                {
                    "name": "Alpha-1 type I collagen",
                    "type": "synonym"
                },
                {
                    "name": "alpha-1 type I collagen",
                    "type": "synonym"
                },
                {
                    "name": "alpha1(I) procollagen",
                    "type": "synonym"
                },
                {
                    "name": "collagen Col1-ColIII-1",
                    "type": "synonym"
                },
                {
                    "name": "collagen Col1-ColIII-2",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha 1 chain type I",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-1(I) chain preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "collagen of skin, tendon and bone, alpha-1 chain",
                    "type": "synonym"
                },
                {
                    "name": "collagen, type I, alpha 1",
                    "type": "synonym"
                },
                {
                    "name": "pro-alpha-1 collagen type 1",
                    "type": "synonym"
                },
                {
                    "name": "type I proalpha 1",
                    "type": "synonym"
                },
                {
                    "name": "type I procollagen alpha 1 chain",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COL1A1",
                    "type": "recommended"
                },
                {
                    "name": "CAFYD",
                    "type": "synonym"
                },
                {
                    "name": "COL1A1",
                    "type": "synonym"
                },
                {
                    "name": "EDSARTH1",
                    "type": "synonym"
                },
                {
                    "name": "EDSC",
                    "type": "synonym"
                },
                {
                    "name": "OI1",
                    "type": "synonym"
                },
                {
                    "name": "OI2",
                    "type": "synonym"
                },
                {
                    "name": "OI3",
                    "type": "synonym"
                },
                {
                    "name": "OI4",
                    "type": "synonym"
                }
            ],
            "record_id": "P02452-1",
            "evidence": [
                {
                    "id": "130060",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/130060"
                },
                {
                    "id": "0080727",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080727"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P02454-1",
            "uniprot_ac": "P02454",
            "uniprot_id": "CO1A1_RAT",
            "refseq_ac": "NP_445756",
            "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(I) chain",
                    "type": "recommended"
                },
                {
                    "name": "Alpha-1 type I collagen",
                    "type": "synonym"
                },
                {
                    "name": "alpha-1 type I collagen",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-1(I) chain precursor",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-1(I) chain",
                    "type": "synonym"
                },
                {
                    "name": "collagen, type 1, alpha 1",
                    "type": "synonym"
                },
                {
                    "name": "collagen, type I, alpha 1",
                    "type": "synonym"
                },
                {
                    "name": "procollagen type I, alpha 1",
                    "type": "synonym"
                },
                {
                    "name": "procollagen, type 1, alpha 1",
                    "type": "synonym"
                },
                {
                    "name": "type I-alpha 1 collagen",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Col1a1",
                    "type": "recommended"
                },
                {
                    "name": "COLIA1",
                    "type": "synonym"
                },
                {
                    "name": "Col1a1",
                    "type": "synonym"
                }
            ],
            "record_id": "P02454-1",
            "evidence": [
                {
                    "id": "0080727",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080727"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P35738-1",
            "uniprot_ac": "P35738",
            "uniprot_id": "ODBB_RAT",
            "refseq_ac": "NP_062140",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "2-oxoisovalerate dehydrogenase subunit beta, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.2.4.4",
                    "type": "synonym"
                },
                {
                    "name": "2-oxoisovalerate dehydrogenase beta subunit",
                    "type": "synonym"
                },
                {
                    "name": "2-oxoisovalerate dehydrogenase subunit beta, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "2-oxoisovalerate dehydrogenase subunit beta, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "BCKDE1B",
                    "type": "synonym"
                },
                {
                    "name": "BCKDH E1-beta",
                    "type": "synonym"
                },
                {
                    "name": "Branched-chain alpha-keto acid dehydrogenase E1 component beta chain",
                    "type": "synonym"
                },
                {
                    "name": "branched chain keto acid dehydrogenase E1 beta",
                    "type": "synonym"
                },
                {
                    "name": "branched chain keto acid dehydrogenase E1, beta polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "branched-chain alpha-keto acid dehydrogenase E1 component beta chain",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bckdhb",
                    "type": "recommended"
                },
                {
                    "name": "BCKDE1B",
                    "type": "synonym"
                },
                {
                    "name": "Bckdhb",
                    "type": "synonym"
                }
            ],
            "record_id": "P35738-1",
            "evidence": [
                {
                    "id": "0080727",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080727"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080727"
}