{
    "disease_id": "DOID:0070301",
    "recommended_name": {
        "id": "DOID:0070301",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070301",
        "name": "multiple epiphyseal dysplasia 6",
        "description": "A multiple epiphyseal dysplasia due to collagen 9 anomaly that has_material_basis_in heterozygous mutation in the COL9A1 gene on chromosome 6p13."
    },
    "synonyms": [
        {
            "id": "DOID:0070301",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070301",
            "name": "EDM6",
            "description": ""
        },
        {
            "id": "MONDO:0013591",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013591",
            "name": "epiphyseal dysplasia, multiple, 6",
            "description": "Any multiple epiphyseal dysplasia in which the cause of the disease is a mutation in the COL9A1 gene."
        },
        {
            "id": "MONDO:0013591",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013591",
            "name": "COL9A1 multiple epiphyseal dysplasia (disease)",
            "description": ""
        },
        {
            "id": "MONDO:0013591",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013591",
            "name": "epiphyseal dysplasia, multiple, 6",
            "description": ""
        },
        {
            "id": "MONDO:0013591",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013591",
            "name": "epiphyseal dysplasia, multiple, type 6",
            "description": ""
        },
        {
            "id": "MONDO:0013591",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013591",
            "name": "multiple epiphyseal dysplasia (disease) caused by mutation in COL9A1",
            "description": ""
        },
        {
            "id": "MONDO:0013591",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013591",
            "name": "EDM6",
            "description": ""
        },
        {
            "id": "MONDO:0013591",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013591",
            "name": "multiple epiphyseal dysplasia 6",
            "description": ""
        },
        {
            "id": "MIM:614135",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614135",
            "name": "Multiple epiphyseal dysplasia 6",
            "description": "Multiple epiphyseal dysplasia 6"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070301"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070301",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070301",
            "categories": []
        },
        {
            "id": "MONDO:0013591",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013591",
            "categories": []
        },
        {
            "id": "MIM:614135",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614135",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "B8A4T6-1",
            "uniprot_ac": "B8A4T6",
            "uniprot_id": "B8A4T6_DANRE",
            "refseq_ac": "NP_998429",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Collagen, type IX, alpha 1b precursor",
                    "type": "synonym"
                },
                {
                    "name": "collagen, type IX, alpha 1b precursor",
                    "type": "synonym"
                },
                {
                    "name": "collagen, type IX, alpha 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "col9a1b",
                    "type": "recommended"
                },
                {
                    "name": "cb339",
                    "type": "synonym"
                },
                {
                    "name": "col9a1b",
                    "type": "synonym"
                },
                {
                    "name": "col9a1",
                    "type": "synonym"
                },
                {
                    "name": "sb:cb339",
                    "type": "synonym"
                },
                {
                    "name": "wu:fa12a12",
                    "type": "synonym"
                },
                {
                    "name": "wu:fa12d02",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc22c08",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc38d08",
                    "type": "synonym"
                },
                {
                    "name": "zgc:85892",
                    "type": "synonym"
                }
            ],
            "record_id": "B8A4T6-1",
            "evidence": [
                {
                    "id": "0070301",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070301"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q05722-1",
            "uniprot_ac": "Q05722",
            "uniprot_id": "CO9A1_MOUSE",
            "refseq_ac": "NP_031766",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Collagen alpha-1(IX) chain",
                    "type": "recommended"
                },
                {
                    "name": "alpha 1 type IX collagen",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-1(IX) chain isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-1(IX) chain",
                    "type": "synonym"
                },
                {
                    "name": "procollagen, type IX, alpha 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Col9a1",
                    "type": "recommended"
                },
                {
                    "name": "Col9a-1",
                    "type": "synonym"
                },
                {
                    "name": "Col9a1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q05722-1",
            "evidence": [
                {
                    "id": "0070301",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070301"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P20849-1",
            "uniprot_ac": "P20849",
            "uniprot_id": "CO9A1_HUMAN",
            "refseq_ac": "NP_001842",
            "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(IX) chain",
                    "type": "recommended"
                },
                {
                    "name": "alpha-1(IX) collagen chain",
                    "type": "synonym"
                },
                {
                    "name": "cartilage-specific short collagen",
                    "type": "synonym"
                },
                {
                    "name": "collagen IX, alpha-1 polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-1(IX) chain isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-1(IX) chain",
                    "type": "synonym"
                },
                {
                    "name": "collagen, type IX, alpha 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COL9A1",
                    "type": "recommended"
                },
                {
                    "name": "COL9A1",
                    "type": "synonym"
                },
                {
                    "name": "DJ149L1.1.2",
                    "type": "synonym"
                },
                {
                    "name": "EDM6",
                    "type": "synonym"
                },
                {
                    "name": "MED",
                    "type": "synonym"
                },
                {
                    "name": "STL4",
                    "type": "synonym"
                }
            ],
            "record_id": "P20849-1",
            "evidence": [
                {
                    "id": "614135",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614135"
                },
                {
                    "id": "0070301",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070301"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P20850-1",
            "uniprot_ac": "P20850",
            "uniprot_id": "CO9A1_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Collagen alpha-1(IX) chain",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Col9a1",
                    "type": "recommended"
                }
            ],
            "record_id": "P20850-1",
            "evidence": [
                {
                    "id": "0070301",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070301"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070301"
}