{
    "disease_id": "DOID:0080672",
    "recommended_name": {
        "id": "DOID:0080672",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080672",
        "name": "fibrochondrogenesis 1",
        "description": "A fibrochondrogenesis that is characterized by a flat midface with a small nose and anteverted nares, significant shortening of all limb segments but relatively normal hands and feet, and a small bell-shaped thorax with a protuberant abdomen and that has_material_basis_in compound heterozygous mutation in the COL11A1 gene on chromosome 1p21."
    },
    "synonyms": [
        {
            "id": "MONDO:0009226",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009226",
            "name": "fibrochondrogenesis 1",
            "description": "Any fibrochondrogenesis in which the cause of the disease is a mutation in the COL11A1 gene."
        },
        {
            "id": "MONDO:0009226",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009226",
            "name": "COL11A1 fibrochondrogenesis",
            "description": ""
        },
        {
            "id": "MONDO:0009226",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009226",
            "name": "fibrochondrogenesis 1",
            "description": ""
        },
        {
            "id": "MONDO:0009226",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009226",
            "name": "fibrochondrogenesis caused by mutation in COL11A1",
            "description": ""
        },
        {
            "id": "MONDO:0009226",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009226",
            "name": "fibrochondrogenesis type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009226",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009226",
            "name": "FBCG1",
            "description": ""
        },
        {
            "id": "MIM:228520",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/228520",
            "name": "Fibrochondrogenesis 1",
            "description": "Fibrochondrogenesis 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080672"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080672",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080672",
            "categories": []
        },
        {
            "id": "MONDO:0009226",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009226",
            "categories": []
        },
        {
            "id": "MIM:228520",
            "database": "MIM",
            "url": "https://www.omim.org/entry/228520",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M2BA28-1",
            "uniprot_ac": "A0A8M2BA28",
            "uniprot_id": "A0A8M2BA28_DANRE",
            "refseq_ac": "XP_005162870",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Collagen, type XI, alpha 1a isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "collagen, type XI, alpha 1a isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "col11a1a",
                    "type": "recommended"
                },
                {
                    "name": "col11a1a",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb34e11",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc11b03",
                    "type": "synonym"
                },
                {
                    "name": "zgc:158335",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2BA28-1",
            "evidence": [
                {
                    "id": "0080672",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080672"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q61245-1",
            "uniprot_ac": "Q61245",
            "uniprot_id": "COBA1_MOUSE",
            "refseq_ac": "NP_031755",
            "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(XI) chain",
                    "type": "recommended"
                },
                {
                    "name": "a1(XI) collagen",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-1(XI) chain preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-1(XI) chain",
                    "type": "synonym"
                },
                {
                    "name": "pro-alpha1(XI) collagen",
                    "type": "synonym"
                },
                {
                    "name": "procollagen, type XI, alpha 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Col11a1",
                    "type": "recommended"
                },
                {
                    "name": "C530001D20Rik",
                    "type": "synonym"
                },
                {
                    "name": "Col11a1",
                    "type": "synonym"
                },
                {
                    "name": "cho",
                    "type": "synonym"
                }
            ],
            "record_id": "Q61245-1",
            "evidence": [
                {
                    "id": "0080672",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080672"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P12107-1",
            "uniprot_ac": "P12107",
            "uniprot_id": "COBA1_HUMAN",
            "refseq_ac": "NP_001177638",
            "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(XI) chain",
                    "type": "recommended"
                },
                {
                    "name": "collagen XI, alpha-1 polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-1(XI) chain isoform E preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-1(XI) chain",
                    "type": "synonym"
                },
                {
                    "name": "collagen, type XI, alpha 1",
                    "type": "synonym"
                },
                {
                    "name": "deafness, autosomal dominant 37",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COL11A1",
                    "type": "recommended"
                },
                {
                    "name": "CO11A1",
                    "type": "synonym"
                },
                {
                    "name": "COL11A1",
                    "type": "synonym"
                },
                {
                    "name": "COLL6",
                    "type": "synonym"
                },
                {
                    "name": "DFNA37",
                    "type": "synonym"
                },
                {
                    "name": "STL2",
                    "type": "synonym"
                }
            ],
            "record_id": "P12107-1",
            "evidence": [
                {
                    "id": "228520",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/228520"
                },
                {
                    "id": "0080672",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080672"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P20909-1",
            "uniprot_ac": "P20909",
            "uniprot_id": "COBA1_RAT",
            "refseq_ac": "NP_037249",
            "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(XI) chain",
                    "type": "recommended"
                },
                {
                    "name": "collagen alpha-1(XI) chain precursor",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-1(XI) chain",
                    "type": "synonym"
                },
                {
                    "name": "collagen type a1(XI)6A-7-8",
                    "type": "synonym"
                },
                {
                    "name": "collagen type a1(XI)6B-7",
                    "type": "synonym"
                },
                {
                    "name": "collagen, type XI, alpha 1",
                    "type": "synonym"
                },
                {
                    "name": "procollagen type XI alpha 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Col11a1",
                    "type": "recommended"
                },
                {
                    "name": "Col11a1",
                    "type": "synonym"
                }
            ],
            "record_id": "P20909-1",
            "evidence": [
                {
                    "id": "0080672",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080672"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q00788-1",
            "uniprot_ac": "Q00788",
            "uniprot_id": "V2R_RAT",
            "refseq_ac": "NP_062009",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vasopressin V2 receptor",
                    "type": "recommended"
                },
                {
                    "name": "AVPR V2",
                    "type": "synonym"
                },
                {
                    "name": "Antidiuretic hormone receptor",
                    "type": "synonym"
                },
                {
                    "name": "Renal-type arginine vasopressin receptor",
                    "type": "synonym"
                },
                {
                    "name": "V2R",
                    "type": "synonym"
                },
                {
                    "name": "Vasopressin receptor V2",
                    "type": "synonym"
                },
                {
                    "name": "antidiuretic hormone receptor",
                    "type": "synonym"
                },
                {
                    "name": "renal-type arginine vasopressin receptor",
                    "type": "synonym"
                },
                {
                    "name": "vasopressin V2 receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Avpr2",
                    "type": "recommended"
                },
                {
                    "name": "Avpr2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q00788-1",
            "evidence": [
                {
                    "id": "0080672",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080672"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9ULK4-1",
            "uniprot_ac": "Q9ULK4",
            "uniprot_id": "MED23_HUMAN",
            "refseq_ac": "NP_001257450",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mediator of RNA polymerase II transcription subunit 23",
                    "type": "recommended"
                },
                {
                    "name": "130 kDa transcriptional co-activator",
                    "type": "synonym"
                },
                {
                    "name": "133 kDa transcriptional co-activator",
                    "type": "synonym"
                },
                {
                    "name": "ARC130",
                    "type": "synonym"
                },
                {
                    "name": "Activator-recruited cofactor 130 kDa component",
                    "type": "synonym"
                },
                {
                    "name": "CRSP complex subunit 3",
                    "type": "synonym"
                },
                {
                    "name": "Cofactor required for Sp1 transcriptional activation subunit 3",
                    "type": "synonym"
                },
                {
                    "name": "DRIP130",
                    "type": "synonym"
                },
                {
                    "name": "Mediator complex subunit 23",
                    "type": "synonym"
                },
                {
                    "name": "Protein sur-2 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Transcriptional coactivator CRSP130",
                    "type": "synonym"
                },
                {
                    "name": "Vitamin D3 receptor-interacting protein complex 130 kDa component",
                    "type": "synonym"
                },
                {
                    "name": "activator-recruited cofactor 130 kDa component",
                    "type": "synonym"
                },
                {
                    "name": "cofactor required for Sp1 transcriptional activation subunit 3",
                    "type": "synonym"
                },
                {
                    "name": "hSur-2",
                    "type": "synonym"
                },
                {
                    "name": "mediator of RNA polymerase II transcription subunit 23 isoform c",
                    "type": "synonym"
                },
                {
                    "name": "mediator of RNA polymerase II transcription subunit 23",
                    "type": "synonym"
                },
                {
                    "name": "vitamin D3 receptor interacting protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MED23",
                    "type": "recommended"
                },
                {
                    "name": "ARC130",
                    "type": "synonym"
                },
                {
                    "name": "CRSP130",
                    "type": "synonym"
                },
                {
                    "name": "CRSP133",
                    "type": "synonym"
                },
                {
                    "name": "CRSP3",
                    "type": "synonym"
                },
                {
                    "name": "DRIP130",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1216",
                    "type": "synonym"
                },
                {
                    "name": "MED23",
                    "type": "synonym"
                },
                {
                    "name": "MRT18",
                    "type": "synonym"
                },
                {
                    "name": "SUR-2",
                    "type": "synonym"
                },
                {
                    "name": "SUR2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9ULK4-1",
            "evidence": [
                {
                    "id": "0080672",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080672"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080672"
}