{
    "disease_id": "DOID:0070304",
    "recommended_name": {
        "id": "DOID:0070304",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070304",
        "name": "multiple epiphyseal dysplasia 3",
        "description": "A multiple epiphyseal dysplasia due to collagen 9 anomaly that has_material_basis_in heterozygous mutation in the COL9A3 gene on chromosome 20q13."
    },
    "synonyms": [
        {
            "id": "DOID:0070304",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070304",
            "name": "EDM3",
            "description": ""
        },
        {
            "id": "DOID:0070304",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070304",
            "name": "multiple epiphyseal dysplasia 3 with or without myopathy",
            "description": ""
        },
        {
            "id": "MONDO:0010964",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010964",
            "name": "epiphyseal dysplasia, multiple, 3",
            "description": "Any multiple epiphyseal dysplasia in which the cause of the disease is a mutation in the COL9A3 gene."
        },
        {
            "id": "MONDO:0010964",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010964",
            "name": "COL9A3 multiple epiphyseal dysplasia (disease)",
            "description": ""
        },
        {
            "id": "MONDO:0010964",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010964",
            "name": "epiphyseal dysplasia, multiple, 3",
            "description": ""
        },
        {
            "id": "MONDO:0010964",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010964",
            "name": "epiphyseal dysplasia, multiple, 3, with or without myopathy",
            "description": ""
        },
        {
            "id": "MONDO:0010964",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010964",
            "name": "epiphyseal dysplasia, multiple, type 3",
            "description": ""
        },
        {
            "id": "MONDO:0010964",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010964",
            "name": "multiple epiphyseal dysplasia (disease) caused by mutation in COL9A3",
            "description": ""
        },
        {
            "id": "MONDO:0010964",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010964",
            "name": "EDM3",
            "description": ""
        },
        {
            "id": "MONDO:0010964",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010964",
            "name": "epiphyseal dysplasia multiple 3",
            "description": ""
        },
        {
            "id": "MONDO:0010964",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010964",
            "name": "multiple epiphyseal dysplasia 3",
            "description": ""
        },
        {
            "id": "MIM:600969",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/600969",
            "name": "Multiple epiphyseal dysplasia 3",
            "description": "Multiple epiphyseal dysplasia 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070304"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070304",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070304",
            "categories": []
        },
        {
            "id": "MONDO:0010964",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010964",
            "categories": []
        },
        {
            "id": "MIM:600969",
            "database": "MIM",
            "url": "https://www.omim.org/entry/600969",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1R1F1-1",
            "uniprot_ac": "F1R1F1",
            "uniprot_id": "F1R1F1_DANRE",
            "refseq_ac": "NP_001292502",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Collagen alpha-3(IX) chain precursor",
                    "type": "synonym"
                },
                {
                    "name": "alpha 3 type IX collagen",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-3(IX) chain precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "col9a3",
                    "type": "recommended"
                },
                {
                    "name": "cb367",
                    "type": "synonym"
                },
                {
                    "name": "col9a3",
                    "type": "synonym"
                },
                {
                    "name": "sb:cb367",
                    "type": "synonym"
                },
                {
                    "name": "si:ch73-162j3.1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fa04f01",
                    "type": "synonym"
                }
            ],
            "record_id": "F1R1F1-1",
            "evidence": [
                {
                    "id": "0070304",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070304"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A2ACT7-1",
            "uniprot_ac": "A2ACT7",
            "uniprot_id": "A2ACT7_MOUSE",
            "refseq_ac": "NP_034066",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Collagen, type IX, alpha 3",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-3(IX) chain isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "procollagen, type IX, alpha 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Col9a3",
                    "type": "recommended"
                },
                {
                    "name": "Col9a3",
                    "type": "synonym"
                }
            ],
            "record_id": "A2ACT7-1",
            "evidence": [
                {
                    "id": "0070304",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070304"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q14050-1",
            "uniprot_ac": "Q14050",
            "uniprot_id": "CO9A3_HUMAN",
            "refseq_ac": "NP_001844",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Collagen alpha-3(IX) chain",
                    "type": "recommended"
                },
                {
                    "name": "collagen IX, alpha-3 polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-3(IX) chain precursor",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-3(IX) chain",
                    "type": "synonym"
                },
                {
                    "name": "collagen type IX proteoglycan",
                    "type": "synonym"
                },
                {
                    "name": "collagen, type IX, alpha 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COL9A3",
                    "type": "recommended"
                },
                {
                    "name": "COL9A3",
                    "type": "synonym"
                },
                {
                    "name": "DJ885L7.4.1",
                    "type": "synonym"
                },
                {
                    "name": "EDM3",
                    "type": "synonym"
                },
                {
                    "name": "IDD",
                    "type": "synonym"
                },
                {
                    "name": "MED",
                    "type": "synonym"
                },
                {
                    "name": "STL6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q14050-1",
            "evidence": [
                {
                    "id": "600969",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/600969"
                },
                {
                    "id": "0070304",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070304"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZX71-1",
            "uniprot_ac": "D3ZX71",
            "uniprot_id": "D3ZX71_RAT",
            "refseq_ac": "NP_001102081",
            "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 3 chain",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-3(IX) chain precursor",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-3(IX) chain",
                    "type": "synonym"
                },
                {
                    "name": "collagen, type IX, alpha 3",
                    "type": "synonym"
                },
                {
                    "name": "procollagen, type IX, alpha 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Col9a3",
                    "type": "recommended"
                },
                {
                    "name": "Col9a3",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZX71-1",
            "evidence": [
                {
                    "id": "0070304",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070304"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O35923-1",
            "uniprot_ac": "O35923",
            "uniprot_id": "BRCA2_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": "Breast cancer type 2 susceptibility protein homolog",
                    "type": "recommended"
                },
                {
                    "name": "Fanconi anemia group D1 protein homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Brca2",
                    "type": "recommended"
                },
                {
                    "name": "Fancd1",
                    "type": "synonym"
                }
            ],
            "record_id": "O35923-1",
            "evidence": [
                {
                    "id": "0070304",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070304"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070304"
}