{
    "disease_id": "DOID:0061292",
    "recommended_name": {
        "id": "DOID:0061292",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061292",
        "name": "Galloway-Mowat syndrome 9",
        "description": "A Galloway-Mowat syndrome characterized by onset of nephrotic syndrome with proteinuria in infancy or early childhood that has_material_basis_in homozygous mutation in the GON7 gene on chromosome 14q32."
    },
    "synonyms": [
        {
            "id": "MONDO:0030471",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030471",
            "name": "Galloway-Mowat syndrome 9",
            "description": ""
        },
        {
            "id": "MONDO:0030471",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030471",
            "name": "GAMOS9",
            "description": ""
        },
        {
            "id": "MIM:619603",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619603",
            "name": "Galloway-Mowat syndrome 9",
            "description": "Galloway-Mowat syndrome 9"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061292"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061292",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061292",
            "categories": []
        },
        {
            "id": "MONDO:0030471",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030471",
            "categories": []
        },
        {
            "id": "MIM:619603",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619603",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9BXV9-1",
            "uniprot_ac": "Q9BXV9",
            "uniprot_id": "GON7_HUMAN",
            "refseq_ac": "NP_115879",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "EKC/KEOPS complex subunit GON7",
                    "type": "recommended"
                },
                {
                    "name": "EKC/KEOPS complex subunit GON7",
                    "type": "synonym"
                },
                {
                    "name": "GON7, KEOPS complex subunit homolog",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein C14orf142",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GON7",
                    "type": "recommended"
                },
                {
                    "name": "C14orf142",
                    "type": "synonym"
                },
                {
                    "name": "GON7",
                    "type": "synonym"
                },
                {
                    "name": "PNAS-127",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9BXV9-1",
            "evidence": [
                {
                    "id": "619603",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619603"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061292"
}