{
    "disease_id": "DOID:0070298",
    "recommended_name": {
        "id": "DOID:0070298",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070298",
        "name": "multiple epiphyseal dysplasia 2",
        "description": "A multiple epiphyseal dysplasia due to collagen 9 anomaly that has_material_basis_in heterozygous mutation in the COL9A2 gene on chromosome 1p34."
    },
    "synonyms": [
        {
            "id": "DOID:0070298",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070298",
            "name": "EDM2",
            "description": ""
        },
        {
            "id": "MONDO:0010844",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010844",
            "name": "epiphyseal dysplasia, multiple, 2",
            "description": "Any multiple epiphyseal dysplasia in which the cause of the disease is a mutation in the COL9A2 gene."
        },
        {
            "id": "MONDO:0010844",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010844",
            "name": "COL9A2 multiple epiphyseal dysplasia (disease)",
            "description": ""
        },
        {
            "id": "MONDO:0010844",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010844",
            "name": "epiphyseal dysplasia, multiple, 2",
            "description": ""
        },
        {
            "id": "MONDO:0010844",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010844",
            "name": "epiphyseal dysplasia, multiple, type 2",
            "description": ""
        },
        {
            "id": "MONDO:0010844",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010844",
            "name": "multiple epiphyseal dysplasia (disease) caused by mutation in COL9A2",
            "description": ""
        },
        {
            "id": "MONDO:0010844",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010844",
            "name": "EDM2",
            "description": ""
        },
        {
            "id": "MONDO:0010844",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010844",
            "name": "epiphyseal dysplasia multiple 2",
            "description": ""
        },
        {
            "id": "MONDO:0010844",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010844",
            "name": "multiple epiphyseal dysplasia 2",
            "description": ""
        },
        {
            "id": "MIM:600204",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/600204",
            "name": "Multiple epiphyseal dysplasia 2",
            "description": "Multiple epiphyseal dysplasia 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070298"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070298",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070298",
            "categories": []
        },
        {
            "id": "MONDO:0010844",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010844",
            "categories": []
        },
        {
            "id": "MIM:600204",
            "database": "MIM",
            "url": "https://www.omim.org/entry/600204",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q1LXU2-1",
            "uniprot_ac": "Q1LXU2",
            "uniprot_id": "Q1LXU2_DANRE",
            "refseq_ac": "NP_997744",
            "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(IX) chain precursor",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-2(IX) chain precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "col9a2",
                    "type": "recommended"
                },
                {
                    "name": "cb343",
                    "type": "synonym"
                },
                {
                    "name": "col9a2",
                    "type": "synonym"
                },
                {
                    "name": "colIXa2",
                    "type": "synonym"
                },
                {
                    "name": "sb:cb343",
                    "type": "synonym"
                },
                {
                    "name": "wu:fa12h02",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc93e05",
                    "type": "synonym"
                },
                {
                    "name": "zgc:100808",
                    "type": "synonym"
                }
            ],
            "record_id": "Q1LXU2-1",
            "evidence": [
                {
                    "id": "0070298",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070298"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q07643-1",
            "uniprot_ac": "Q07643",
            "uniprot_id": "CO9A2_MOUSE",
            "refseq_ac": "",
            "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(IX) chain",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Col9a2",
                    "type": "recommended"
                }
            ],
            "record_id": "Q07643-1",
            "evidence": [
                {
                    "id": "0070298",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070298"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q14055-1",
            "uniprot_ac": "Q14055",
            "uniprot_id": "CO9A2_HUMAN",
            "refseq_ac": "NP_001843",
            "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(IX) chain",
                    "type": "recommended"
                },
                {
                    "name": "alpha 2 type IX collagen",
                    "type": "synonym"
                },
                {
                    "name": "collagen IX, alpha-2 polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-2(IX) chain precursor",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-2(IX) chain",
                    "type": "synonym"
                },
                {
                    "name": "collagen, type IX, alpha 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COL9A2",
                    "type": "recommended"
                },
                {
                    "name": "COL9A2",
                    "type": "synonym"
                },
                {
                    "name": "DJ39G22.4",
                    "type": "synonym"
                },
                {
                    "name": "EDM2",
                    "type": "synonym"
                },
                {
                    "name": "MED",
                    "type": "synonym"
                },
                {
                    "name": "STL5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q14055-1",
            "evidence": [
                {
                    "id": "600204",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/600204"
                },
                {
                    "id": "0070298",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070298"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZNT5-1",
            "uniprot_ac": "D3ZNT5",
            "uniprot_id": "D3ZNT5_RAT",
            "refseq_ac": "NP_001102145",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Collagen type IX alpha 2 chain",
                    "type": "synonym"
                },
                {
                    "name": "alpha 1 type IX collagen",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-2(IX) chain precursor",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-2(IX) chain",
                    "type": "synonym"
                },
                {
                    "name": "collagen, type IX, alpha 2",
                    "type": "synonym"
                },
                {
                    "name": "procollagen, type IX, alpha 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Col9a2",
                    "type": "recommended"
                },
                {
                    "name": "Col9a2",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZNT5-1",
            "evidence": [
                {
                    "id": "0070298",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070298"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O54952-1",
            "uniprot_ac": "O54952",
            "uniprot_id": "BRCA1_RAT",
            "refseq_ac": "NP_036646",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Breast cancer type 1 susceptibility protein homolog",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "RING-type E3 ubiquitin transferase BRCA1",
                    "type": "synonym"
                },
                {
                    "name": "breast cancer 1, early onset",
                    "type": "synonym"
                },
                {
                    "name": "breast cancer type 1 susceptibility protein homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Brca1",
                    "type": "recommended"
                },
                {
                    "name": "BRCA-1",
                    "type": "synonym"
                },
                {
                    "name": "Brca1",
                    "type": "synonym"
                }
            ],
            "record_id": "O54952-1",
            "evidence": [
                {
                    "id": "0070298",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070298"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070298"
}