{
    "disease_id": "DOID:0061289",
    "recommended_name": {
        "id": "DOID:0061289",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061289",
        "name": "Galloway-Mowat syndrome 6",
        "description": "A Galloway-Mowat syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the WDR4 gene on chromosome 21q22."
    },
    "synonyms": [
        {
            "id": "MONDO:0032691",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032691",
            "name": "Galloway-Mowat syndrome 6",
            "description": ""
        },
        {
            "id": "MONDO:0032691",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032691",
            "name": "GAMOS6",
            "description": ""
        },
        {
            "id": "MIM:618347",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618347",
            "name": "Galloway-Mowat syndrome 6",
            "description": "Galloway-Mowat syndrome 6"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061289"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061289",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061289",
            "categories": []
        },
        {
            "id": "MONDO:0032691",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032691",
            "categories": []
        },
        {
            "id": "MIM:618347",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618347",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P57081-1",
            "uniprot_ac": "P57081",
            "uniprot_id": "WDR4_HUMAN",
            "refseq_ac": "NP_001247403",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "tRNA (guanine-N(7)-)-methyltransferase non-catalytic subunit WDR4",
                    "type": "recommended"
                },
                {
                    "name": "Protein Wuho homolog",
                    "type": "synonym"
                },
                {
                    "name": "TRM82 tRNA methyltransferase 82 homolog",
                    "type": "synonym"
                },
                {
                    "name": "WD repeat domain 4 METTL1 scaffold protein",
                    "type": "synonym"
                },
                {
                    "name": "WD repeat domain 4",
                    "type": "synonym"
                },
                {
                    "name": "WD repeat-containing protein 4",
                    "type": "synonym"
                },
                {
                    "name": "hWH",
                    "type": "synonym"
                },
                {
                    "name": "protein Wuho homolog",
                    "type": "synonym"
                },
                {
                    "name": "tRNA (guanine-N(7)-)-methyltransferase non-catalytic subunit WDR4 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "tRNA (guanine-N(7)-)-methyltransferase non-catalytic subunit WDR4",
                    "type": "synonym"
                },
                {
                    "name": "tRNA (guanine-N(7)-)-methyltransferase subunit WDR4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "WDR4",
                    "type": "recommended"
                },
                {
                    "name": "GAMOS6",
                    "type": "synonym"
                },
                {
                    "name": "MIGSB",
                    "type": "synonym"
                },
                {
                    "name": "TRM82",
                    "type": "synonym"
                },
                {
                    "name": "TRMT82",
                    "type": "synonym"
                },
                {
                    "name": "WDR4",
                    "type": "synonym"
                },
                {
                    "name": "Wuho",
                    "type": "synonym"
                },
                {
                    "name": "hWH",
                    "type": "synonym"
                }
            ],
            "record_id": "P57081-1",
            "evidence": [
                {
                    "id": "618347",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618347"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061289"
}