{
    "uniprot_canonical_ac": "A2ACT7-1", 
    "ptm_annotation": [], 
    "sequence": {
        "header": "tr|A2ACT7-1|A2ACT7_MOUSE Isoform 1 of Collagen, type IX, alpha 3  OS=Mus musculus OX=10090 GN=Col9a3 PE=1 SV=1 CANONICAL=A2ACT7-1", 
        "length": 680, 
        "sequence": "MTGAPALALLLLGQLLTATSAQKVGPRGPPGPQGPPGKPGKDGIDGEAGPPGLPGLPGPKGTSGKPGKPGEAGLPGLPGVDGLTGRDGPAGPKGAPGERGSLGPPGPPGLGGKGLPGPPGEAGVSGLPGGIGLRGPPGPSGLPGLPGLPGPPGPPGNPGVLPEGATDLQCPAICPPGPPGPPGMPGFKGPTGYKGEQGEVGKDGEKGSPGPPGPPGIPGTVGLQGPRGLRGLPGPLGPPGDRGPIGFRGPPGTPGAPGKVGDRGERGPEGFRGPKGDLGRPGPKGIPGMAGPGGEPGMPGKDGKDGVPGLDGEKGEAGRNGGQGEKGPNGLPGLPGRAGSKGEKGEPGRTGELGEAGPSGEPGIPGDVGVPGERGEAGHRGSVGALGPQGPPGAPGIRGFQGQKGSTGDPGLPGPQGLRGDVGDRGPGGATGPKGDQGIAGSDGLPGDKGELGPNGPVGQKGESGSRGELGPKGIQGPNGTSGVQGVPGPPGPLGLQGVQGVPGITGKPGVPGKEASEQRIRELCGGMISEQIAQLAAHLRKPLAPGSIGRPGPAGPPGPPGPPGSIGHPGARGPPGYRGPTGELGDPGPRGSQGDRGDKGATGAGLDGPAGDQGYQGPQGVPGISKDGRDGAHGEPGLPGDPGLPGAAGAQGTPGICDTSACQGAVLGGGGEKSGPRSS"
    }, 
    "uniprot_id": "A2ACT7_MOUSE", 
    "glycation": [], 
    "keywords": [], 
    "species": [
        {
            "common_name": "Mouse", 
            "evidence": [
                {
                    "url": "https://www.uniprot.org/uniprot/A2ACT7", 
                    "id": "A2ACT7", 
                    "database": "UniProtKB"
                }
            ], 
            "name": "Mus musculus", 
            "taxid": 10090
        }
    ], 
    "reaction_enzymes": [], 
    "publication": [
        {
            "reference": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/pubmed/10430081", 
                    "type": "PubMed", 
                    "id": "10430081"
                }
            ], 
            "title": "BRK/Sik expression in the gastrointestinal tract and in colon tumors.", 
            "journal": "Clinical cancer research : an official journal of the American Association for Cancer Research", 
            "evidence": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_034066.2", 
                    "id": "NP_034066.2", 
                    "database": "RefSeq"
                }
            ], 
            "authors": "Llor X, Serfas MS, Bie W, Vasioukhin V, Polonskaia M, Derry J, Abbott CM, Tyner AL", 
            "date": "1999"
        }, 
        {
            "reference": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/pubmed/26429145", 
                    "type": "PubMed", 
                    "id": "26429145"
                }
            ], 
            "title": "Early changes in morphology, bone mineral density and matrix composition of vertebrae lead to disc degeneration in aged collagen IX -/- mice.", 
            "journal": "Matrix biology : journal of the International Society for Matrix Biology", 
            "evidence": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_034066.2", 
                    "id": "NP_034066.2", 
                    "database": "RefSeq"
                }
            ], 
            "authors": "Kamper M, Hamann N, Prein C, Clausen-Schaumann H, Farkas Z, Aszodi A, Niehoff A, Paulsson M, Zaucke F", 
            "date": "2016"
        }, 
        {
            "reference": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/pubmed/28705898", 
                    "type": "PubMed", 
                    "id": "28705898"
                }
            ], 
            "title": "Cellular heterogeneity in the ureteric progenitor niche and distinct profiles of branching morphogenesis in organ development.", 
            "journal": "Development (Cambridge, England)", 
            "evidence": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_034066.2", 
                    "id": "NP_034066.2", 
                    "database": "RefSeq"
                }
            ], 
            "authors": "Rutledge EA, Benazet JD, McMahon AP", 
            "date": "2017"
        }, 
        {
            "reference": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/pubmed/8305476", 
                    "type": "PubMed", 
                    "id": "8305476"
                }
            ], 
            "title": "The complete primary structure of the long form of mouse alpha 1(IX) collagen chain and its expression during limb development.", 
            "journal": "Biochimica et biophysica acta", 
            "evidence": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_034066.2", 
                    "id": "NP_034066.2", 
                    "database": "RefSeq"
                }
            ], 
            "authors": "Abe N, Yoshioka H, Inoue H, Ninomiya Y", 
            "date": "1994"
        }, 
        {
            "reference": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/pubmed/9164858", 
                    "type": "PubMed", 
                    "id": "9164858"
                }
            ], 
            "title": "Developmental regulation of mRNA species for types II, IX and XI collagens during mouse embryogenesis.", 
            "journal": "The Biochemical journal", 
            "evidence": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_034066.2", 
                    "id": "NP_034066.2", 
                    "database": "RefSeq"
                }
            ], 
            "authors": "Perala M, Savontaus M, Metsaranta M, Vuorio E", 
            "date": "1997"
        }
    ], 
    "uniprot_ac": "A2ACT7", 
    "gene_names": [
        {
            "url": "https://www.uniprot.org/uniprot/A2ACT7", 
            "type": "recommended", 
            "resource": "UniProtKB", 
            "name": "Col9a3"
        }, 
        {
            "url": "https://www.ncbi.nlm.nih.gov/protein/A2ACT7", 
            "type": "synonym", 
            "resource": "RefSeq", 
            "name": "AV006866"
        }, 
        {
            "url": "https://www.ncbi.nlm.nih.gov/protein/A2ACT7", 
            "type": "synonym", 
            "resource": "RefSeq", 
            "name": "Col9a3"
        }
    ], 
    "reactions": [], 
    "isoforms": [
        {
            "url": "https://www.uniprot.org/uniprot/A2ACT7#A2ACT7-1", 
            "isoform_ac": "A2ACT7-1", 
            "locus": {
                "end_pos": 180598260, 
                "strand": "-", 
                "start_pos": 180621417, 
                "chromosome": "2", 
                "evidence": [
                    {
                        "url": "https://www.ensembl.org/id/ENSMUST00000103059", 
                        "id": "ENSMUST00000103059", 
                        "database": "Ensembl Transcript"
                    }, 
                    {
                        "url": "https://www.ensembl.org/id/ENSMUSP00000099348", 
                        "id": "ENSMUSP00000099348", 
                        "database": "Ensembl Peptide"
                    }
                ]
            }, 
            "sequence": {
                "header": "tr|A2ACT7-1|A2ACT7_MOUSE Isoform 1 of Collagen, type IX, alpha 3  OS=Mus musculus OX=10090 GN=Col9a3 PE=1 SV=1 CANONICAL=A2ACT7-1", 
                "length": 680, 
                "sequence": "MTGAPALALLLLGQLLTATSAQKVGPRGPPGPQGPPGKPGKDGIDGEAGPPGLPGLPGPKGTSGKPGKPGEAGLPGLPGVDGLTGRDGPAGPKGAPGERGSLGPPGPPGLGGKGLPGPPGEAGVSGLPGGIGLRGPPGPSGLPGLPGLPGPPGPPGNPGVLPEGATDLQCPAICPPGPPGPPGMPGFKGPTGYKGEQGEVGKDGEKGSPGPPGPPGIPGTVGLQGPRGLRGLPGPLGPPGDRGPIGFRGPPGTPGAPGKVGDRGERGPEGFRGPKGDLGRPGPKGIPGMAGPGGEPGMPGKDGKDGVPGLDGEKGEAGRNGGQGEKGPNGLPGLPGRAGSKGEKGEPGRTGELGEAGPSGEPGIPGDVGVPGERGEAGHRGSVGALGPQGPPGAPGIRGFQGQKGSTGDPGLPGPQGLRGDVGDRGPGGATGPKGDQGIAGSDGLPGDKGELGPNGPVGQKGESGSRGELGPKGIQGPNGTSGVQGVPGPPGPLGLQGVQGVPGITGKPGVPGKEASEQRIRELCGGMISEQIAQLAAHLRKPLAPGSIGRPGPAGPPGPPGPPGSIGHPGARGPPGYRGPTGELGDPGPRGSQGDRGDKGATGAGLDGPAGDQGYQGPQGVPGISKDGRDGAHGEPGLPGDPGLPGAAGAQGTPGICDTSACQGAVLGGGGEKSGPRSS"
            }
        }
    ], 
    "pathway": [
        {
            "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-1650814", 
            "description": "Collagen biosynthesis and modifying enzymes", 
            "resource": "Reactome", 
            "id": "R-MMU-1650814", 
            "name": "Collagen biosynthesis and modifying enzymes"
        }, 
        {
            "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-186797", 
            "description": "Signaling by PDGF", 
            "resource": "Reactome", 
            "id": "R-MMU-186797", 
            "name": "Signaling by PDGF"
        }, 
        {
            "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-2022090", 
            "description": "Assembly of collagen fibrils and other multimeric structures", 
            "resource": "Reactome", 
            "id": "R-MMU-2022090", 
            "name": "Assembly of collagen fibrils and other multimeric structures"
        }, 
        {
            "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-216083", 
            "description": "Integrin cell surface interactions", 
            "resource": "Reactome", 
            "id": "R-MMU-216083", 
            "name": "Integrin cell surface interactions"
        }, 
        {
            "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-3000178", 
            "description": "ECM proteoglycans", 
            "resource": "Reactome", 
            "id": "R-MMU-3000178", 
            "name": "ECM proteoglycans"
        }, 
        {
            "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-419037", 
            "description": "NCAM1 interactions", 
            "resource": "Reactome", 
            "id": "R-MMU-419037", 
            "name": "NCAM1 interactions"
        }, 
        {
            "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-8948216", 
            "description": "Collagen chain trimerization", 
            "resource": "Reactome", 
            "id": "R-MMU-8948216", 
            "name": "Collagen chain trimerization"
        }
    ], 
    "reaction_participants": [], 
    "function": [
        {
            "url": "https://www.ncbi.nlm.nih.gov/protein/NP_034066.2", 
            "annotation": "Results show that absence of Col IX induces early developmental, structural and biomechanical alterations in both vertebral body and intervertebral disc which eventually cause severe degenerative changes in the aging spine.", 
            "evidence": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_034066.2", 
                    "id": "NP_034066.2", 
                    "database": "RefSeq"
                }
            ]
        }
    ], 
    "orthologs": [
        {
            "uniprot_canonical_ac": "D3ZX71-1", 
            "protein_name": "Collagen type IX alpha 3 chain", 
            "sequence": {
                "length": 680, 
                "sequence": "MTGAPALALLLLGQLLTATSAQKVGPRGPPGPQGPPGKPGKDGIDGEAGPPGLPGPPGPKGTSGKPGKPGEAGLPGLPGVDGLTGRDGPAGPKGAPGERGSLGPPGPPGLGGKGLPGPPGEAGVSGLPGGIGLRGPPGPSGLPGLPGPPGPPGPPGNPGVLPEGATDLQCPAICPPGPPGPPGMPGFKGPTGYKGEQGEVGKDGEKGNPGPPGPPGIPGTVGLQGPRGLQGLPGPLGPPGDRGPIGFRGPPGIPGAPGKAGDRGDRGPEGFRGPKGDLGRPGPKGIPGVAGPGGEPGMPGKDGKDGVPGLDGEKGEAGRTGAPGEKGPNGLPGLPGRAGSKGEKGEVGRTGELGEAGPSGEPGIPGDVGVPGERGEAGHRGSVGALGPQGPPGAPGIRGFQGQKGSIGDPGLPGPQGLRGDVGDRGPGGATGPKGDQGIAGSDGLPGDKGELGPNGPVGQKGESGSRGELGPKGIQGPNGTSGVQGVPGPPGPLGFQGVQGVPGITGKPGVPGKEASEQRIRELCGGMISEQIAQLAAHLRKPLAPGSIGRPGPAGPPGPPGPPGSIGHPGARGPPGYRGPTGELGDPGPRGSQGDRGDKGAIGVGLDGPAGDQGYRGPQGVPGISKDGRDGAHGEPGLPGDPGLPGAAGAQGTPGICDTSACQGAVLGGGGEKSGPRSS"
            }, 
            "evidence": [
                {
                    "url": "http://www.informatics.jax.org/homology/20438", 
                    "id": "20438", 
                    "database": "MGI"
                }, 
                {
                    "url": "https://omabrowser.org/oma/group/A2ACT7/", 
                    "id": "A2ACT7", 
                    "database": "OMA"
                }
            ], 
            "common_name": "Rat", 
            "organism": "Rattus norvegicus", 
            "gene_name": "Col9a3", 
            "tax_id": 10116
        }, 
        {
            "uniprot_canonical_ac": "Q14050-1", 
            "protein_name": "Collagen alpha-3(IX) chain", 
            "sequence": {
                "length": 684, 
                "sequence": "MAGPRACAPLLLLLLLGELLAAAGAQRVGLPGPPGPPGPPGKPGQDGIDGEAGPPGLPGPPGPKGAPGKPGKPGEAGLPGLPGVDGLTGRDGPPGPKGAPGERGSLGPPGPPGLGGKGLPGPPGEAGVSGPPGGIGLRGPPGPSGLPGLPGPPGPPGPPGHPGVLPEGATDLQCPSICPPGPPGPPGMPGFKGPTGYKGEQGEVGKDGEKGDPGPPGPAGLPGSVGLQGPRGLRGLPGPLGPPGDRGPIGFRGPPGIPGAPGKAGDRGERGPEGFRGPKGDLGRPGPKGTPGVAGPSGEPGMPGKDGQNGVPGLDGQKGEAGRNGAPGEKGPNGLPGLPGRAGSKGEKGERGRAGELGEAGPSGEPGVPGDAGMPGERGEAGHRGSAGALGPQGPPGAPGVRGFQGQKGSMGDPGLPGPQGLRGDVGDRGPGGAAGPKGDQGIAGSDGLPGDKGELGPSGLVGPKGESGSRGELGPKGTQGPNGTSGVQGVPGPPGPLGLQGVPGVPGITGKPGVPGKEASEQRIRELCGGMISEQIAQLAAHLRKPLAPGSIGRPGPAGPPGPPGPPGSIGHPGARGPPGYRGPTGELGDPGPRGNQGDRGDKGAAGAGLDGPEGDQGPQGPQGVPGTSKDGQDGAPGEPGPPGDPGLPGAIGAQGTPGICDTSACQGAVLGGVGEKSGSRSS"
            }, 
            "evidence": [
                {
                    "url": "http://www.informatics.jax.org/homology/20438", 
                    "id": "20438", 
                    "database": "MGI"
                }
            ], 
            "common_name": "Human", 
            "organism": "Homo sapiens", 
            "gene_name": "COL9A3", 
            "tax_id": 9606
        }
    ], 
    "interactions": [], 
    "synthesized_glycans": [], 
    "snv": [], 
    "cluster_types": [
        {
            "name": "homologset.mgi", 
            "label": "MGI Homologs"
        }, 
        {
            "name": "homologset.oma", 
            "label": "OMA Homologs"
        }
    ], 
    "refseq": {
        "url": "https://www.ncbi.nlm.nih.gov/protein/NP_034066.2", 
        "ac": "NP_034066.2", 
        "name": "collagen alpha-3(IX) chain isoform 2 precursor", 
        "summary": ""
    }, 
    "go_annotation": {
        "categories": [
            {
                "go_terms": [
                    {
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005201", 
                        "pmid": "21873635", 
                        "evidence": [
                            {
                                "url": "https://www.uniprot.org/uniprot/A2ACT7", 
                                "id": "A2ACT7", 
                                "database": "UniProtKB"
                            }
                        ], 
                        "name": "extracellular matrix structural constituent", 
                        "id": "GO:0005201"
                    }
                ], 
                "total": 1, 
                "name": "Molecular Function"
            }, 
            {
                "go_terms": [
                    {
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", 
                        "pmid": "21873635", 
                        "evidence": [
                            {
                                "url": "https://www.uniprot.org/uniprot/A2ACT7", 
                                "id": "A2ACT7", 
                                "database": "UniProtKB"
                            }
                        ], 
                        "name": "extracellular space", 
                        "id": "GO:0005615"
                    }, 
                    {
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031012", 
                        "pmid": "21873635", 
                        "evidence": [
                            {
                                "url": "https://www.uniprot.org/uniprot/A2ACT7", 
                                "id": "A2ACT7", 
                                "database": "UniProtKB"
                            }
                        ], 
                        "name": "extracellular matrix", 
                        "id": "GO:0031012"
                    }, 
                    {
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005604", 
                        "pmid": "21873635", 
                        "evidence": [
                            {
                                "url": "https://www.uniprot.org/uniprot/A2ACT7", 
                                "id": "A2ACT7", 
                                "database": "UniProtKB"
                            }
                        ], 
                        "name": "basement membrane", 
                        "id": "GO:0005604"
                    }, 
                    {
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062023", 
                        "pmid": "22159717", 
                        "evidence": [
                            {
                                "url": "https://www.uniprot.org/uniprot/A2ACT7", 
                                "id": "A2ACT7", 
                                "database": "UniProtKB"
                            }
                        ], 
                        "name": "collagen-containing extracellular matrix", 
                        "id": "GO:0062023"
                    }, 
                    {
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005594", 
                        "pmid": "", 
                        "evidence": [
                            {
                                "url": "https://www.uniprot.org/uniprot/A2ACT7", 
                                "id": "A2ACT7", 
                                "database": "UniProtKB"
                            }
                        ], 
                        "name": "collagen type IX trimer", 
                        "id": "GO:0005594"
                    }
                ], 
                "total": 5, 
                "name": "Cellular Component"
            }, 
            {
                "go_terms": [
                    {
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030198", 
                        "pmid": "21873635", 
                        "evidence": [
                            {
                                "url": "https://www.uniprot.org/uniprot/A2ACT7", 
                                "id": "A2ACT7", 
                                "database": "UniProtKB"
                            }
                        ], 
                        "name": "extracellular matrix organization", 
                        "id": "GO:0030198"
                    }, 
                    {
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008584", 
                        "pmid": "11145610", 
                        "evidence": [
                            {
                                "url": "https://www.uniprot.org/uniprot/A2ACT7", 
                                "id": "A2ACT7", 
                                "database": "UniProtKB"
                            }
                        ], 
                        "name": "male gonad development", 
                        "id": "GO:0008584"
                    }, 
                    {
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008585", 
                        "pmid": "11145610", 
                        "evidence": [
                            {
                                "url": "https://www.uniprot.org/uniprot/A2ACT7", 
                                "id": "A2ACT7", 
                                "database": "UniProtKB"
                            }
                        ], 
                        "name": "female gonad development", 
                        "id": "GO:0008585"
                    }
                ], 
                "total": 3, 
                "name": "Biological Process"
            }
        ]
    }, 
    "site_annotation": [
        {
            "end_pos": 481, 
            "annotation": "n_glycosylation_sequon", 
            "start_pos": 479
        }
    ], 
    "pro_annotation": [], 
    "crossref": [
        {
            "url": "https://bgee.org/?page=gene&gene_id=ENSMUSG00000027570", 
            "id": "ENSMUSG00000027570", 
            "database": "Bgee"
        }, 
        {
            "url": "https://www.ncbi.nlm.nih.gov/gene/12841", 
            "id": "12841", 
            "database": "GeneID"
        }, 
        {
            "url": "https://www.ebi.ac.uk/interpro/entry/IPR008160", 
            "id": "IPR008160", 
            "database": "InterPro"
        }, 
        {
            "url": "http://www.informatics.jax.org/marker/MGI:894686", 
            "id": "894686", 
            "database": "MGI"
        }, 
        {
            "url": "https://omabrowser.org/oma/group/FKGPTGY/", 
            "id": "FKGPTGY", 
            "database": "OMA"
        }, 
        {
            "url": "http://www.orthodb.org/?query=1029126at2759", 
            "id": "1029126at2759", 
            "database": "OrthoDB"
        }, 
        {
            "url": "http://pfam.xfam.org/family/PF01391", 
            "id": "PF01391", 
            "database": "Pfam"
        }, 
        {
            "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-1650814", 
            "id": "R-MMU-1650814", 
            "database": "Reactome"
        }, 
        {
            "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-186797", 
            "id": "R-MMU-186797", 
            "database": "Reactome"
        }, 
        {
            "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-2022090", 
            "id": "R-MMU-2022090", 
            "database": "Reactome"
        }, 
        {
            "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-216083", 
            "id": "R-MMU-216083", 
            "database": "Reactome"
        }, 
        {
            "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-3000178", 
            "id": "R-MMU-3000178", 
            "database": "Reactome"
        }, 
        {
            "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-419037", 
            "id": "R-MMU-419037", 
            "database": "Reactome"
        }, 
        {
            "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-8948216", 
            "id": "R-MMU-8948216", 
            "database": "Reactome"
        }, 
        {
            "url": "https://www.ncbi.nlm.nih.gov/protein/NP_034066", 
            "id": "NP_034066", 
            "database": "RefSeq"
        }, 
        {
            "url": "https://www.ncbi.nlm.nih.gov/protein/NP_034066.2", 
            "id": "NP_034066.2", 
            "database": "RefSeq"
        }, 
        {
            "url": "https://www.uniprot.org/uniprot/A2ACT7", 
            "id": "A2ACT7", 
            "database": "UniProtKB"
        }, 
        {
            "url": "https://www.uniprot.org/uniprot/A2ACT7-1", 
            "id": "A2ACT7-1", 
            "database": "UniProtKB"
        }
    ], 
    "expression_disease": [], 
    "glycosylation": [], 
    "mutagenesis": [], 
    "disease": [
        {
            "disease_id": "DOID:0070304", 
            "synonyms": [
                {
                    "url": "http://disease-ontology.org/term/DOID:0070304", 
                    "resource": "Disease Ontology", 
                    "description": "", 
                    "name": "EDM3", 
                    "id": "DOID:0070304"
                }, 
                {
                    "url": "http://disease-ontology.org/term/DOID:0070304", 
                    "resource": "Disease Ontology", 
                    "description": "", 
                    "name": "multiple epiphyseal dysplasia 3 with or without myopathy", 
                    "id": "DOID:0070304"
                }, 
                {
                    "url": "https://monarchinitiative.org/disease/MONDO:0010964", 
                    "resource": "MONDO", 
                    "description": "Any multiple epiphyseal dysplasia in which the cause of the disease is a mutation in the COL9A3 gene.", 
                    "name": "epiphyseal dysplasia, multiple, 3", 
                    "id": "MONDO:0010964"
                }, 
                {
                    "url": "https://monarchinitiative.org/disease/MONDO:0010964", 
                    "resource": "MONDO", 
                    "description": "", 
                    "name": "epiphyseal dysplasia, multiple, 3", 
                    "id": "MONDO:0010964"
                }, 
                {
                    "url": "https://monarchinitiative.org/disease/MONDO:0010964", 
                    "resource": "MONDO", 
                    "description": "", 
                    "name": "multiple epiphyseal dysplasia (disease) caused by mutation in COL9A3", 
                    "id": "MONDO:0010964"
                }, 
                {
                    "url": "https://monarchinitiative.org/disease/MONDO:0010964", 
                    "resource": "MONDO", 
                    "description": "", 
                    "name": "epiphyseal dysplasia, multiple, 3; EDM3", 
                    "id": "MONDO:0010964"
                }, 
                {
                    "url": "https://monarchinitiative.org/disease/MONDO:0010964", 
                    "resource": "MONDO", 
                    "description": "", 
                    "name": "COL9A3 multiple epiphyseal dysplasia (disease)", 
                    "id": "MONDO:0010964"
                }, 
                {
                    "url": "https://monarchinitiative.org/disease/MONDO:0010964", 
                    "resource": "MONDO", 
                    "description": "", 
                    "name": "EDM3", 
                    "id": "MONDO:0010964"
                }, 
                {
                    "url": "https://monarchinitiative.org/disease/MONDO:0010964", 
                    "resource": "MONDO", 
                    "description": "", 
                    "name": "multiple epiphyseal dysplasia 3", 
                    "id": "MONDO:0010964"
                }, 
                {
                    "url": "https://monarchinitiative.org/disease/MONDO:0010964", 
                    "resource": "MONDO", 
                    "description": "", 
                    "name": "epiphyseal dysplasia, multiple, 3, with myopathy", 
                    "id": "MONDO:0010964"
                }, 
                {
                    "url": "https://monarchinitiative.org/disease/MONDO:0010964", 
                    "resource": "MONDO", 
                    "description": "", 
                    "name": "epiphyseal dysplasia multiple 3", 
                    "id": "MONDO:0010964"
                }, 
                {
                    "url": "https://monarchinitiative.org/disease/MONDO:0010964", 
                    "resource": "MONDO", 
                    "description": "", 
                    "name": "epiphyseal dysplasia, multiple, type 3", 
                    "id": "MONDO:0010964"
                }, 
                {
                    "url": "https://www.omim.org/entry/600969", 
                    "resource": "MIM", 
                    "description": "Multiple epiphyseal dysplasia 3", 
                    "name": "Multiple epiphyseal dysplasia 3", 
                    "id": "MIM:600969"
                }
            ], 
            "recommended_name": {
                "url": "http://disease-ontology.org/term/DOID:0070304", 
                "resource": "Disease Ontology", 
                "description": "A multiple epiphyseal dysplasia due to collagen 9 anomaly that has_material_basis_in heterozygous mutation in the COL9A3 gene on chromosome 20q13.", 
                "name": "multiple epiphyseal dysplasia 3", 
                "id": "DOID:0070304"
            }, 
            "evidence": [
                {
                    "url": "https://www.alliancegenome.org/gene/0070304#disease-associations", 
                    "id": "0070304", 
                    "database": "Alliance of Genome Resources"
                }
            ]
        }, 
        {
            "disease_id": "DOID:2256", 
            "synonyms": [
                {
                    "url": "http://disease-ontology.org/term/DOID:2256", 
                    "resource": "Disease Ontology", 
                    "description": "", 
                    "name": "Osteochondrodysplasia syndrome", 
                    "id": "DOID:2256"
                }, 
                {
                    "url": "http://disease-ontology.org/term/DOID:2256", 
                    "resource": "Disease Ontology", 
                    "description": "", 
                    "name": "Congenital anomaly of cartilage", 
                    "id": "DOID:2256"
                }, 
                {
                    "url": "http://disease-ontology.org/term/DOID:2256", 
                    "resource": "Disease Ontology", 
                    "description": "", 
                    "name": "skeletal dysplasia", 
                    "id": "DOID:2256"
                }, 
                {
                    "url": "http://disease-ontology.org/term/DOID:2256", 
                    "resource": "Disease Ontology", 
                    "description": "", 
                    "name": "Cartilage Development disorder", 
                    "id": "DOID:2256"
                }, 
                {
                    "url": "http://disease-ontology.org/term/DOID:2256", 
                    "resource": "Disease Ontology", 
                    "description": "", 
                    "name": "chondrodystrophy", 
                    "id": "DOID:2256"
                }
            ], 
            "recommended_name": {
                "url": "http://disease-ontology.org/term/DOID:2256", 
                "resource": "Disease Ontology", 
                "description": "A bone development disease that results_in defective development of cartilage or bone.", 
                "name": "osteochondrodysplasia", 
                "id": "DOID:2256"
            }, 
            "evidence": [
                {
                    "url": "https://www.alliancegenome.org/gene/2256#disease-associations", 
                    "id": "2256", 
                    "database": "Alliance of Genome Resources"
                }
            ]
        }
    ], 
    "phosphorylation": [], 
    "mass": {
        "monoisotopic_mass": 63475.0, 
        "chemical_mass": 63475.0
    }, 
    "expression_tissue": [], 
    "gene": [
        {
            "url": "https://www.uniprot.org/uniprot/A2ACT7", 
            "name": "Col9a3", 
            "locus": {
                "end_pos": 180622189, 
                "strand": "+", 
                "start_pos": 180597790, 
                "chromosome": "2", 
                "evidence": [
                    {
                        "url": "https://www.ensembl.org/id/ENSMUSG00000027570", 
                        "id": "ENSMUSG00000027570", 
                        "database": "Ensembl Gene"
                    }
                ]
            }
        }
    ], 
    "protein_names": [
        {
            "url": "https://www.uniprot.org/uniprot/A2ACT7#names_and_taxonomy", 
            "type": "synonym", 
            "resource": "UniProtKB", 
            "name": "Collagen, type IX, alpha 3"
        }, 
        {
            "url": "https://www.ncbi.nlm.nih.gov/protein/A2ACT7", 
            "type": "synonym", 
            "resource": "RefSeq", 
            "name": "collagen alpha-3(IX) chain isoform 2 precursor"
        }, 
        {
            "url": "https://www.ncbi.nlm.nih.gov/protein/A2ACT7", 
            "type": "synonym", 
            "resource": "RefSeq", 
            "name": "procollagen, type IX, alpha 3"
        }
    ]
}