{
    "disease_id": "DOID:0080730",
    "recommended_name": {
        "id": "DOID:0080730",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080730",
        "name": "Ehlers-Danlos syndrome cardiac valvular type",
        "description": "An Ehlers-Danlos syndrome that is characterized by severe problems with heart valves and that has_material_basis_in homozygous or compound heterozygous mutation in the COL1A2 gene on chromosome 7q21."
    },
    "synonyms": [
        {
            "id": "MONDO:0009159",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009159",
            "name": "Ehlers-Danlos syndrome, cardiac valvular type",
            "description": "A form of Ehlers-Danlos syndrome characterized by soft skin, skin hyperextensibility, easy bruisability, atrophic scar formation, joint hypermobility and cardiac valvular defects comprising mitral and/or aortic valve insufficiency."
        },
        {
            "id": "MONDO:0009159",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009159",
            "name": "COL1A2-related Ehlers-Danlos syndrome, cardiac valvular type",
            "description": ""
        },
        {
            "id": "MONDO:0009159",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009159",
            "name": "EDS, cardiac valvular type",
            "description": ""
        },
        {
            "id": "MONDO:0009159",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009159",
            "name": "EDSCV",
            "description": ""
        },
        {
            "id": "MONDO:0009159",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009159",
            "name": "Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form",
            "description": ""
        },
        {
            "id": "MONDO:0009159",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009159",
            "name": "cardiac valvular form of Ehlers-Danlos syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009159",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009159",
            "name": "cardiac valvular form of autosomal recessive Ehlers-Danlos syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009159",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009159",
            "name": "cardiac-valvular EDS",
            "description": ""
        },
        {
            "id": "MONDO:0009159",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009159",
            "name": "cardiac-valvular Ehlers-Danlos syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009159",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009159",
            "name": "cvEDS",
            "description": ""
        },
        {
            "id": "MONDO:0009159",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009159",
            "name": "Ehlers-Danlos syndrome, arthrochalasis type",
            "description": ""
        },
        {
            "id": "MIM:225320",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/225320",
            "name": "Ehlers-Danlos syndrome, cardiac valvular type",
            "description": "Ehlers-Danlos syndrome, cardiac valvular type"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080730"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080730",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080730",
            "categories": []
        },
        {
            "id": "MONDO:0009159",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009159",
            "categories": []
        },
        {
            "id": "MIM:225320",
            "database": "MIM",
            "url": "https://www.omim.org/entry/225320",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q01149-1",
            "uniprot_ac": "Q01149",
            "uniprot_id": "CO1A2_MOUSE",
            "refseq_ac": "NP_031769",
            "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(I) chain",
                    "type": "recommended"
                },
                {
                    "name": "Alpha-2 type I collagen",
                    "type": "synonym"
                },
                {
                    "name": "alpha-2 type I collagen",
                    "type": "synonym"
                },
                {
                    "name": "collagen COL1A2",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-2(I) chain preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-2(I) chain",
                    "type": "synonym"
                },
                {
                    "name": "procollagen, type I, alpha 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Col1a2",
                    "type": "recommended"
                },
                {
                    "name": "Col1a-2",
                    "type": "synonym"
                },
                {
                    "name": "Col1a2",
                    "type": "synonym"
                },
                {
                    "name": "Cola-2",
                    "type": "synonym"
                },
                {
                    "name": "Cola2",
                    "type": "synonym"
                },
                {
                    "name": "oim",
                    "type": "synonym"
                }
            ],
            "record_id": "Q01149-1",
            "evidence": [
                {
                    "id": "0080730",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080730"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P08123-1",
            "uniprot_ac": "P08123",
            "uniprot_id": "CO1A2_HUMAN",
            "refseq_ac": "NP_000080",
            "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(I) chain",
                    "type": "recommended"
                },
                {
                    "name": "Alpha-2 type I collagen",
                    "type": "synonym"
                },
                {
                    "name": "alpha 2 type I procollagen",
                    "type": "synonym"
                },
                {
                    "name": "alpha 2(I) procollagen",
                    "type": "synonym"
                },
                {
                    "name": "alpha 2(I)-collagen",
                    "type": "synonym"
                },
                {
                    "name": "alpha-2 type I collagen",
                    "type": "synonym"
                },
                {
                    "name": "collagen I, alpha-2 polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-2(I) chain precursor",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-2(I) chain",
                    "type": "synonym"
                },
                {
                    "name": "collagen of skin, tendon and bone, alpha-2 chain",
                    "type": "synonym"
                },
                {
                    "name": "collagen, type I, alpha 2",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                },
                {
                    "name": "type I procollagen",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COL1A2",
                    "type": "recommended"
                },
                {
                    "name": "COL1A2",
                    "type": "synonym"
                },
                {
                    "name": "EDSARTH2",
                    "type": "synonym"
                },
                {
                    "name": "EDSCV",
                    "type": "synonym"
                },
                {
                    "name": "OI4",
                    "type": "synonym"
                }
            ],
            "record_id": "P08123-1",
            "evidence": [
                {
                    "id": "225320",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/225320"
                },
                {
                    "id": "0080730",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080730"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P02466-1",
            "uniprot_ac": "P02466",
            "uniprot_id": "CO1A2_RAT",
            "refseq_ac": "NP_445808",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Collagen alpha-2(I) chain",
                    "type": "recommended"
                },
                {
                    "name": "Alpha-2 type I collagen",
                    "type": "synonym"
                },
                {
                    "name": "alpha-2 type I collagen",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-2(I) chain precursor",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-2(I) chain",
                    "type": "synonym"
                },
                {
                    "name": "collagen, type I, alpha 2",
                    "type": "synonym"
                },
                {
                    "name": "procollagen, type I, alpha 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Col1a2",
                    "type": "recommended"
                },
                {
                    "name": "Col1a2",
                    "type": "synonym"
                }
            ],
            "record_id": "P02466-1",
            "evidence": [
                {
                    "id": "0080730",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080730"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q00972-1",
            "uniprot_ac": "Q00972",
            "uniprot_id": "BCKD_RAT",
            "refseq_ac": "NP_062117",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Branched-chain alpha-ketoacid dehydrogenase kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "2.7.11.4",
                    "type": "synonym"
                },
                {
                    "name": "BCKD-kinase",
                    "type": "synonym"
                },
                {
                    "name": "BCKDH kinase",
                    "type": "synonym"
                },
                {
                    "name": "BCKDHKIN",
                    "type": "synonym"
                },
                {
                    "name": "BDK",
                    "type": "synonym"
                },
                {
                    "name": "[3-methyl-2-oxobutanoate dehydrogenase [lipoamide]] kinase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "branched-chain alpha-ketoacid dehydrogenase kinase precursor",
                    "type": "synonym"
                },
                {
                    "name": "branched-chain alpha-ketoacid dehydrogenase kinase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bckdk",
                    "type": "recommended"
                },
                {
                    "name": "BDK",
                    "type": "synonym"
                },
                {
                    "name": "Bckdk",
                    "type": "synonym"
                },
                {
                    "name": "Kat8",
                    "type": "synonym"
                }
            ],
            "record_id": "Q00972-1",
            "evidence": [
                {
                    "id": "0080730",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080730"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080730"
}