{
    "disease_id": "DOID:0061290",
    "recommended_name": {
        "id": "DOID:0061290",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061290",
        "name": "Galloway-Mowat syndrome 7",
        "description": "A Galloway-Mowat syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the NUP107 gene on chromosome 12q15."
    },
    "synonyms": [
        {
            "id": "MONDO:0032692",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032692",
            "name": "Galloway-Mowat syndrome 7",
            "description": ""
        },
        {
            "id": "MONDO:0032692",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032692",
            "name": "GAMOS7",
            "description": ""
        },
        {
            "id": "MIM:618348",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618348",
            "name": "Galloway-Mowat syndrome 7",
            "description": "Galloway-Mowat syndrome 7"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061290"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061290",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061290",
            "categories": []
        },
        {
            "id": "MONDO:0032692",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032692",
            "categories": []
        },
        {
            "id": "MIM:618348",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618348",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P57740-1",
            "uniprot_ac": "P57740",
            "uniprot_id": "NU107_HUMAN",
            "refseq_ac": "NP_001317121",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nuclear pore complex protein Nup107",
                    "type": "recommended"
                },
                {
                    "name": "107 kDa nucleoporin",
                    "type": "synonym"
                },
                {
                    "name": "Nucleoporin Nup107",
                    "type": "synonym"
                },
                {
                    "name": "nuclear pore complex protein Nup107 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "nuclear pore complex protein Nup107",
                    "type": "synonym"
                },
                {
                    "name": "nucleoporin 107kDa",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NUP107",
                    "type": "recommended"
                },
                {
                    "name": "GAMOS7",
                    "type": "synonym"
                },
                {
                    "name": "NPHS11",
                    "type": "synonym"
                },
                {
                    "name": "NUP107",
                    "type": "synonym"
                },
                {
                    "name": "NUP84",
                    "type": "synonym"
                },
                {
                    "name": "ODG6",
                    "type": "synonym"
                }
            ],
            "record_id": "P57740-1",
            "evidence": [
                {
                    "id": "618348",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618348"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061290"
}