{
    "disease_id": "DOID:0061281",
    "recommended_name": {
        "id": "DOID:0061281",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061281",
        "name": "Senior-Loken syndrome 7",
        "description": "A Senior-Loken syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the SDCCAG8 gene on chromosome 1q43."
    },
    "synonyms": [
        {
            "id": "MONDO:0013326",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013326",
            "name": "Senior-Loken syndrome 7",
            "description": "Any Senior-Loken syndrome in which the cause of the disease is a mutation in the SDCCAG8 gene."
        },
        {
            "id": "MONDO:0013326",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013326",
            "name": "SDCCAG8 Senior-Loken syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013326",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013326",
            "name": "Senior-Loken syndrome 7",
            "description": ""
        },
        {
            "id": "MONDO:0013326",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013326",
            "name": "Senior-Loken syndrome caused by mutation in SDCCAG8",
            "description": ""
        },
        {
            "id": "MONDO:0013326",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013326",
            "name": "Senior-Loken syndrome type 7",
            "description": ""
        },
        {
            "id": "MONDO:0013326",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013326",
            "name": "SLSN7",
            "description": ""
        },
        {
            "id": "MIM:613615",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613615",
            "name": "Senior-Loken syndrome 7",
            "description": "Senior-Loken syndrome 7"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061281"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061281",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061281",
            "categories": []
        },
        {
            "id": "MONDO:0013326",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013326",
            "categories": []
        },
        {
            "id": "MIM:613615",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613615",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q86SQ7-1",
            "uniprot_ac": "Q86SQ7",
            "uniprot_id": "SDCG8_HUMAN",
            "refseq_ac": "NP_006633",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serologically defined colon cancer antigen 8",
                    "type": "recommended"
                },
                {
                    "name": "Antigen NY-CO-8",
                    "type": "synonym"
                },
                {
                    "name": "Bardet-Biedl syndrome 16",
                    "type": "synonym"
                },
                {
                    "name": "Centrosomal colon cancer autoantigen protein",
                    "type": "synonym"
                },
                {
                    "name": "antigen NY-CO-8",
                    "type": "synonym"
                },
                {
                    "name": "centrosomal colon cancer autoantigen protein",
                    "type": "synonym"
                },
                {
                    "name": "hCCCAP",
                    "type": "synonym"
                },
                {
                    "name": "nephrocystin 10",
                    "type": "synonym"
                },
                {
                    "name": "serologically defined colon cancer antigen 8 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "serologically defined colon cancer antigen 8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SDCCAG8",
                    "type": "recommended"
                },
                {
                    "name": "BBS16",
                    "type": "synonym"
                },
                {
                    "name": "CCCAP SLSN7",
                    "type": "synonym"
                },
                {
                    "name": "CCCAP",
                    "type": "synonym"
                },
                {
                    "name": "HSPC085",
                    "type": "synonym"
                },
                {
                    "name": "NPHP10",
                    "type": "synonym"
                },
                {
                    "name": "NY-CO-8",
                    "type": "synonym"
                },
                {
                    "name": "SDCCAG8",
                    "type": "synonym"
                },
                {
                    "name": "SLSN7",
                    "type": "synonym"
                },
                {
                    "name": "hCCCAP",
                    "type": "synonym"
                }
            ],
            "record_id": "Q86SQ7-1",
            "evidence": [
                {
                    "id": "613615",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613615"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061281"
}