{
    "disease_id": "DOID:0050576",
    "recommended_name": {
        "id": "DOID:0050576",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050576",
        "name": "Senior-Loken syndrome",
        "description": "A syndrome characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease."
    },
    "synonyms": [
        {
            "id": "DOID:0050576",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050576",
            "name": "Loken Senior syndrome",
            "description": ""
        },
        {
            "id": "DOID:0050576",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050576",
            "name": "renal-retinal syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009962",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009962",
            "name": "Senior-Loken syndrome 1",
            "description": "Any Senior-Loken syndrome in which the cause of the disease is a mutation in the NPHP1 gene."
        },
        {
            "id": "MONDO:0009962",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009962",
            "name": "NPHP1 Senior-Loken syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009962",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009962",
            "name": "Senior-Loken syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0009962",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009962",
            "name": "Senior-Loken syndrome caused by mutation in NPHP1",
            "description": ""
        },
        {
            "id": "MONDO:0009962",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009962",
            "name": "Senior-Loken syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009962",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009962",
            "name": "senior-loken syndrome-1",
            "description": ""
        },
        {
            "id": "MONDO:0009962",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009962",
            "name": "SLSN1",
            "description": ""
        },
        {
            "id": "MIM:266900",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/266900",
            "name": "Senior-Loken syndrome 1",
            "description": "Senior-Loken syndrome 1"
        }
    ],
    "children": [
        {
            "id": "DOID:0061277",
            "label": "Senior-Loken syndrome 1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0061278",
            "label": "Senior-Loken syndrome 4",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0061279",
            "label": "Senior-Loken syndrome 5",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0061280",
            "label": "Senior-Loken syndrome 6",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0061281",
            "label": "Senior-Loken syndrome 7",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0061282",
            "label": "Senior-Loken syndrome 8",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0061283",
            "label": "Senior-Loken syndrome 9",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0061280",
        "DOID:0061281",
        "DOID:0061277",
        "DOID:0061278",
        "DOID:0050576",
        "DOID:0061279",
        "DOID:0061283",
        "DOID:0061282"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050576",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050576",
            "categories": []
        },
        {
            "id": "MONDO:0009962",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009962",
            "categories": []
        },
        {
            "id": "MIM:266900",
            "database": "MIM",
            "url": "https://www.omim.org/entry/266900",
            "categories": []
        }
    ],
    "proteins": [
        {
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            "uniprot_ac": "A0A8M3AZL6",
            "uniprot_id": "A0A8M3AZL6_DANRE",
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            "glycoprotein": "no",
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                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Centrosomal protein of 290 kDa isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "centrosomal protein of 290 kDa isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cep290",
                    "type": "recommended"
                },
                {
                    "name": "cep290",
                    "type": "synonym"
                },
                {
                    "name": "im:7145703",
                    "type": "synonym"
                },
                {
                    "name": "im:7147820",
                    "type": "synonym"
                },
                {
                    "name": "nphp6",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3AZL6-1",
            "evidence": [
                {
                    "id": "0050576",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050576"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M9QA20-1",
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            "uniprot_id": "A0A8M9QA20_DANRE",
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            "glycoprotein": "yes",
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                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nephrocystin-4 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "nephrocystin-4 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "nphp4",
                    "type": "recommended"
                },
                {
                    "name": "nphp4",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0050576",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050576"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B8JK76-1",
            "uniprot_ac": "B8JK76",
            "uniprot_id": "SDCG8_DANRE",
            "refseq_ac": "XP_021336267",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                {
                    "name": "Serologically defined colon cancer antigen 8 homolog",
                    "type": "recommended"
                },
                {
                    "name": "serologically defined colon cancer antigen 8 homolog isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sdccag8",
                    "type": "recommended"
                },
                {
                    "name": "sdccag8",
                    "type": "recommended"
                },
                {
                    "name": "sdccag8",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-60B15.1",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-60b15.1",
                    "type": "synonym"
                }
            ],
            "record_id": "B8JK76-1",
            "evidence": [
                {
                    "id": "0050576",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050576"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6PGZ3-1",
            "uniprot_ac": "Q6PGZ3",
            "uniprot_id": "MIPT3_DANRE",
            "refseq_ac": "NP_956894",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "TRAF3-interacting protein 1",
                    "type": "recommended"
                },
                {
                    "name": "TNF receptor-associated factor 3 interacting protein 1",
                    "type": "synonym"
                },
                {
                    "name": "TRAF3-interacting protein 1",
                    "type": "synonym"
                },
                {
                    "name": "eli",
                    "type": "synonym"
                },
                {
                    "name": "mipt3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "traf3ip1",
                    "type": "recommended"
                },
                {
                    "name": "Elipsa",
                    "type": "synonym"
                },
                {
                    "name": "ift54",
                    "type": "synonym"
                },
                {
                    "name": "traf3ip1",
                    "type": "synonym"
                },
                {
                    "name": "zgc:63522",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6PGZ3-1",
            "evidence": [
                {
                    "id": "0050576",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050576"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M9QEB4-1",
            "uniprot_ac": "A0A8M9QEB4",
            "uniprot_id": "A0A8M9QEB4_DANRE",
            "refseq_ac": "XP_021331990",
            "glycoprotein": "no",
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                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "WD repeat-containing protein 19",
                    "type": "recommended"
                },
                {
                    "name": "Intraflagellar transport 144 homolog",
                    "type": "synonym"
                },
                {
                    "name": "WD repeat-containing protein 19 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "wdr19",
                    "type": "recommended"
                },
                {
                    "name": "wdr19",
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                }
            ],
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                {
                    "id": "0050576",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050576"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7SZ56-1",
            "uniprot_ac": "Q7SZ56",
            "uniprot_id": "TM218_DANRE",
            "refseq_ac": "NP_956692",
            "glycoprotein": "no",
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                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transmembrane protein 218",
                    "type": "recommended"
                },
                {
                    "name": "transmembrane protein 218",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "tmem218",
                    "type": "recommended"
                },
                {
                    "name": "tmem218",
                    "type": "synonym"
                },
                {
                    "name": "zgc:63675",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0050576",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050576"
                }
            ]
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        {
            "uniprot_canonical_ac": "Q9CQ44-1",
            "uniprot_ac": "Q9CQ44",
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            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                {
                    "name": "Transmembrane protein 218",
                    "type": "recommended"
                },
                {
                    "name": "transmembrane protein 218 isoform 1",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Tmem218",
                    "type": "recommended"
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                {
                    "name": "1810021J13Rik",
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                },
                {
                    "name": "Tmem218",
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            ],
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                {
                    "id": "0050576",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050576"
                }
            ]
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            "uniprot_canonical_ac": "Q6A078-1",
            "uniprot_ac": "Q6A078",
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                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Centrosomal protein of 290 kDa",
                    "type": "recommended"
                },
                {
                    "name": "Bardet-Biedl syndrome 14 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "Cep290",
                    "type": "synonym"
                },
                {
                    "name": "Nephrocystin-6",
                    "type": "synonym"
                },
                {
                    "name": "centrosomal protein of 290 kDa isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "centrosomal protein of 290 kDa",
                    "type": "synonym"
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                {
                    "name": "nephrocystin-6",
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                }
            ],
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                    "name": "Cep290",
                    "type": "recommended"
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                {
                    "name": "Cep290",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa0373",
                    "type": "synonym"
                },
                {
                    "name": "Nphp6",
                    "type": "synonym"
                },
                {
                    "name": "b2b1454Clo",
                    "type": "synonym"
                },
                {
                    "name": "b2b1752Clo",
                    "type": "synonym"
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                {
                    "id": "0050576",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0050576"
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            "uniprot_canonical_ac": "Q8BP00-1",
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                    "name": "Mus musculus",
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                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                {
                    "name": "IQ calmodulin-binding motif-containing protein 1",
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                {
                    "name": "IQ calmodulin-binding motif-containing protein 1",
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                }
            ],
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                    "name": "Iqcb1",
                    "type": "recommended"
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                {
                    "name": "6820449I09Rik",
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                {
                    "name": "Iqcb1",
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                    "name": "Kiaa0036",
                    "type": "synonym"
                },
                {
                    "name": "NPHP5",
                    "type": "synonym"
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                {
                    "id": "0050576",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050576"
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                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                {
                    "name": "nephrocystin-1 isoform a",
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                {
                    "name": "nephrocystin-1",
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            ],
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                {
                    "name": "Nphp1",
                    "type": "recommended"
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                {
                    "name": "Nph1",
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                {
                    "name": "Nphp1",
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            "record_id": "Q9QY53-1",
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                    "id": "0050576",
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            "uniprot_canonical_ac": "P59240-1",
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                }
            ],
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                {
                    "name": "Nephrocystin-4",
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                    "name": "Nephroretinin",
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                    "name": "nephrocystin-4",
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                {
                    "name": "nephroretinin",
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                    "name": "Nphp4",
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                {
                    "name": "4930564O18Rik",
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                    "name": "Nphp4",
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                    "name": "nmf192",
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                    "id": "0050576",
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                    "common_name": "Mouse",
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                }
            ],
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                    "name": "Serologically defined colon cancer antigen 8 homolog",
                    "type": "recommended"
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                {
                    "name": "Centrosomal colon cancer autoantigen protein",
                    "type": "synonym"
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                {
                    "name": "centrosomal colon cancer autoantigen protein",
                    "type": "synonym"
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                    "name": "mCCCAP",
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                    "name": "serologically defined colon cancer antigen 8 homolog isoform 1",
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                {
                    "name": "serologically defined colon cancer antigen 8 homolog",
                    "type": "synonym"
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                    "name": "Sdccag8",
                    "type": "recommended"
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                    "name": "2700048G21Rik",
                    "type": "synonym"
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                {
                    "name": "5730470G24Rik",
                    "type": "synonym"
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                {
                    "name": "Cccap",
                    "type": "synonym"
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                {
                    "name": "Sdccag8",
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                    "id": "0050576",
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            "uniprot_canonical_ac": "Q149C2-1",
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                    "name": "Mus musculus",
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                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
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            ],
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                    "name": "TRAF3-interacting protein 1",
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                    "name": "Intraflagellar transport protein 54 homolog",
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                {
                    "name": "MIP-T3",
                    "type": "synonym"
                },
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                    "name": "Microtubule-interacting protein associated with TRAF3",
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                {
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}