{
    "disease_id": "DOID:0061291",
    "recommended_name": {
        "id": "DOID:0061291",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061291",
        "name": "Galloway-Mowat syndrome 8",
        "description": "A Galloway-Mowat syndrome characterized by impaired psychomotor development, poor overall growth with microcephaly, and early-onset progressive nephrotic syndrome associated with focal segmental glomerulosclerosis on renal biopsy that has_material_basis_in homozygous mutation in the NUP133 gene on chromosome 1q42."
    },
    "synonyms": [
        {
            "id": "MONDO:0032693",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032693",
            "name": "Galloway-Mowat syndrome 8",
            "description": ""
        },
        {
            "id": "MONDO:0032693",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032693",
            "name": "GAMOS8",
            "description": ""
        },
        {
            "id": "MIM:618349",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618349",
            "name": "Galloway-Mowat syndrome 8",
            "description": "Galloway-Mowat syndrome 8"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061291"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061291",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061291",
            "categories": []
        },
        {
            "id": "MONDO:0032693",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032693",
            "categories": []
        },
        {
            "id": "MIM:618349",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618349",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8WUM0-1",
            "uniprot_ac": "Q8WUM0",
            "uniprot_id": "NU133_HUMAN",
            "refseq_ac": "NP_060700",
            "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 Nup133",
                    "type": "recommended"
                },
                {
                    "name": "133 kDa nucleoporin",
                    "type": "synonym"
                },
                {
                    "name": "Nucleoporin Nup133",
                    "type": "synonym"
                },
                {
                    "name": "nuclear pore complex protein Nup133",
                    "type": "synonym"
                },
                {
                    "name": "nucleoporin 133kDa",
                    "type": "synonym"
                },
                {
                    "name": "nucleoporin 133kD",
                    "type": "synonym"
                },
                {
                    "name": "nucleoporin Nup133",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NUP133",
                    "type": "recommended"
                },
                {
                    "name": "GAMOS8",
                    "type": "synonym"
                },
                {
                    "name": "NPHS18",
                    "type": "synonym"
                },
                {
                    "name": "NUP133",
                    "type": "synonym"
                },
                {
                    "name": "hNUP133",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8WUM0-1",
            "evidence": [
                {
                    "id": "618349",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618349"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061291"
}