{
    "disease_id": "DOID:0060465",
    "recommended_name": {
        "id": "DOID:0060465",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060465",
        "name": "fibrochondrogenesis",
        "description": "An osteochondrodysplasia that is characterized by shortened long bones in the arms and legs that are unusually wide at the ends, flattened vertebrae with a characteristic pinched or pear shape, and a very narrow chest in infants with short, wide ribs and a round and prominent abdomen."
    },
    "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": "DOID:0080672",
            "label": "fibrochondrogenesis 1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080673",
            "label": "fibrochondrogenesis 2",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0080672",
        "DOID:0080673",
        "DOID:0060465"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060465",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060465",
            "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": "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"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060465"
}