{
    "disease_id": "DOID:0081051",
    "recommended_name": {
        "id": "DOID:0081051",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081051",
        "name": "microcephaly, growth deficiency, seizures, and brain malformations",
        "description": "A syndrome that is characterized by intrauterine growth retardation, postnatal growth deficiency with severe microcephaly, and poor or absent psychomotor development, and that has_material_basis_in homozygous mutation in the WDR4 gene on chromosome 21q22."
    },
    "synonyms": [
        {
            "id": "MONDO:0032690",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032690",
            "name": "microcephaly, growth deficiency, seizures, and brain malformations",
            "description": ""
        },
        {
            "id": "MONDO:0032690",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032690",
            "name": "MIGSB",
            "description": ""
        },
        {
            "id": "MIM:618346",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618346",
            "name": "Microcephaly, growth deficiency, seizures, and brain malformations",
            "description": "Microcephaly, growth deficiency, seizures, and brain malformations"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081051"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081051",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081051",
            "categories": []
        },
        {
            "id": "MONDO:0032690",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032690",
            "categories": []
        },
        {
            "id": "MIM:618346",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618346",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A4IGH4-1",
            "uniprot_ac": "A4IGH4",
            "uniprot_id": "WDR4_DANRE",
            "refseq_ac": "NP_001119907",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "tRNA (guanine-N(7)-)-methyltransferase non-catalytic subunit wdr4",
                    "type": "recommended"
                },
                {
                    "name": "WD repeat-containing protein 4",
                    "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": "im:6900357",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-140m22.6",
                    "type": "synonym"
                },
                {
                    "name": "wdr4",
                    "type": "synonym"
                }
            ],
            "record_id": "A4IGH4-1",
            "evidence": [
                {
                    "id": "0081051",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081051"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9EP82-1",
            "uniprot_ac": "Q9EP82",
            "uniprot_id": "WDR4_MOUSE",
            "refseq_ac": "NP_067297",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "tRNA (guanine-N(7)-)-methyltransferase non-catalytic subunit WDR4",
                    "type": "recommended"
                },
                {
                    "name": "Protein Wuho homolog",
                    "type": "synonym"
                },
                {
                    "name": "WD repeat-containing protein 4",
                    "type": "synonym"
                },
                {
                    "name": "WD40 repeat protein 4",
                    "type": "synonym"
                },
                {
                    "name": "mWH",
                    "type": "synonym"
                },
                {
                    "name": "protein Wuho homolog",
                    "type": "synonym"
                },
                {
                    "name": "tRNA (guanine-N(7)-)-methyltransferase non-catalytic subunit WDR4 isoform a",
                    "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": "D530049K22Rik",
                    "type": "synonym"
                },
                {
                    "name": "Wdr4",
                    "type": "synonym"
                },
                {
                    "name": "Wh",
                    "type": "synonym"
                },
                {
                    "name": "mWH",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9EP82-1",
            "evidence": [
                {
                    "id": "0081051",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081051"
                }
            ]
        },
        {
            "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": "618346",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618346"
                },
                {
                    "id": "0081051",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081051"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q03774-1",
            "uniprot_ac": "Q03774",
            "uniprot_id": "TRM82_YEAST",
            "refseq_ac": "NP_010449",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "tRNA (guanine-N(7)-)-methyltransferase non-catalytic subunit TRM82",
                    "type": "recommended"
                },
                {
                    "name": "Transfer RNA methyltransferase 82",
                    "type": "synonym"
                },
                {
                    "name": "Trm82p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TRM82",
                    "type": "recommended"
                },
                {
                    "name": "TRM82",
                    "type": "synonym"
                },
                {
                    "name": "YD8358.19",
                    "type": "synonym"
                }
            ],
            "record_id": "Q03774-1",
            "evidence": [
                {
                    "id": "0081051",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081051"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A0Q3-1",
            "uniprot_ac": "D4A0Q3",
            "uniprot_id": "D4A0Q3_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "WD repeat domain 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Wdr4",
                    "type": "recommended"
                }
            ],
            "record_id": "D4A0Q3-1",
            "evidence": [
                {
                    "id": "0081051",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081051"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W415-1",
            "uniprot_ac": "Q9W415",
            "uniprot_id": "WUHO_DROME",
            "refseq_ac": "NP_572307",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "tRNA (guanine-N(7)-)-methyltransferase non-catalytic subunit wuho",
                    "type": "recommended"
                },
                {
                    "name": "CG15897-PA",
                    "type": "synonym"
                },
                {
                    "name": "protein wuho",
                    "type": "synonym"
                },
                {
                    "name": "wuho-PA",
                    "type": "synonym"
                },
                {
                    "name": "wuho",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "wuho",
                    "type": "recommended"
                },
                {
                    "name": "CG15897",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG15897",
                    "type": "synonym"
                },
                {
                    "name": "Wuho",
                    "type": "synonym"
                },
                {
                    "name": "wh",
                    "type": "synonym"
                },
                {
                    "name": "wuho",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W415-1",
            "evidence": [
                {
                    "id": "0081051",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081051"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081051"
}