{
    "disease_id": "DOID:0061283",
    "recommended_name": {
        "id": "DOID:0061283",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061283",
        "name": "Senior-Loken syndrome 9",
        "description": "A Senior-Loken syndrome characterized by early-onset nephronophthisis and pigmentary retinopathy that has_material_basis_in homozygous or compound heterozygous mutation in the TRAF3IP1 gene on chromosome 2q37."
    },
    "synonyms": [
        {
            "id": "MONDO:0014712",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014712",
            "name": "Senior-Loken syndrome 9",
            "description": "Any Senior-Loken syndrome in which the cause of the disease is a mutation in the TRAF3IP1 gene."
        },
        {
            "id": "MONDO:0014712",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014712",
            "name": "SLSN9",
            "description": ""
        },
        {
            "id": "MONDO:0014712",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014712",
            "name": "Senior-Loken syndrome 9",
            "description": ""
        },
        {
            "id": "MONDO:0014712",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014712",
            "name": "Senior-Loken syndrome 9; SLSN9",
            "description": ""
        },
        {
            "id": "MONDO:0014712",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014712",
            "name": "Senior-Loken syndrome caused by mutation in TRAF3IP1",
            "description": ""
        },
        {
            "id": "MONDO:0014712",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014712",
            "name": "Senior-Loken syndrome type 9",
            "description": ""
        },
        {
            "id": "MONDO:0014712",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014712",
            "name": "TRAF3IP1 Senior-Loken syndrome",
            "description": ""
        },
        {
            "id": "MIM:616629",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616629",
            "name": "Senior-Loken syndrome 9",
            "description": "Senior-Loken syndrome 9"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061283"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061283",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061283",
            "categories": []
        },
        {
            "id": "MONDO:0014712",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014712",
            "categories": []
        },
        {
            "id": "MIM:616629",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616629",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8TDR0-1",
            "uniprot_ac": "Q8TDR0",
            "uniprot_id": "MIPT3_HUMAN",
            "refseq_ac": "NP_001132962",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "TRAF3-interacting protein 1",
                    "type": "recommended"
                },
                {
                    "name": "Interleukin-13 receptor alpha 1-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Intraflagellar transport protein 54 homolog",
                    "type": "synonym"
                },
                {
                    "name": "MIP-T3",
                    "type": "synonym"
                },
                {
                    "name": "Microtubule-interacting protein associated with TRAF3",
                    "type": "synonym"
                },
                {
                    "name": "TNF receptor-associated factor 3 interacting protein 1",
                    "type": "synonym"
                },
                {
                    "name": "TRAF3 interacting protein 1",
                    "type": "synonym"
                },
                {
                    "name": "TRAF3-interacting protein 1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "interleukin 13 receptor alpha 1-binding protein-1",
                    "type": "synonym"
                },
                {
                    "name": "intraflagellar transport protein 54 homolog",
                    "type": "synonym"
                },
                {
                    "name": "microtubule interacting protein that associates with TRAF3",
                    "type": "synonym"
                },
                {
                    "name": "microtubule-interacting protein associated with TRAF3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TRAF3IP1",
                    "type": "recommended"
                },
                {
                    "name": "CFAP116",
                    "type": "synonym"
                },
                {
                    "name": "FAP116",
                    "type": "synonym"
                },
                {
                    "name": "IFT54",
                    "type": "synonym"
                },
                {
                    "name": "MIP-T3",
                    "type": "synonym"
                },
                {
                    "name": "MIPT3",
                    "type": "synonym"
                },
                {
                    "name": "SLSN9",
                    "type": "synonym"
                },
                {
                    "name": "TRAF3IP1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8TDR0-1",
            "evidence": [
                {
                    "id": "616629",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616629"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061283"
}