{
    "disease_id": "DOID:0070295",
    "recommended_name": {
        "id": "DOID:0070295",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070295",
        "name": "primary autosomal dominant microcephaly 18",
        "description": "A primary microcephaly that has_material_basis_in heterozygous mutation in the WDFY3 gene on chromosome 4q21."
    },
    "synonyms": [
        {
            "id": "DOID:0070295",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070295",
            "name": "MCPH18",
            "description": ""
        },
        {
            "id": "MONDO:0054593",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054593",
            "name": "microcephaly 18, primary, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0054593",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054593",
            "name": "microcephaly 18, primary, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0054593",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054593",
            "name": "MCPH18",
            "description": ""
        },
        {
            "id": "MIM:617520",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617520",
            "name": "Microcephaly 18, primary, autosomal dominant",
            "description": "Microcephaly 18, primary, autosomal dominant"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070295"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070295",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070295",
            "categories": []
        },
        {
            "id": "MONDO:0054593",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054593",
            "categories": []
        },
        {
            "id": "MIM:617520",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617520",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AB32TSB9-1",
            "uniprot_ac": "A0AB32TSB9",
            "uniprot_id": "A0AB32TSB9_DANRE",
            "refseq_ac": "XP_068077567",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "WD repeat and FYVE domain-containing protein 3 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "wdfy3",
                    "type": "recommended"
                },
                {
                    "name": "wdfy3",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB32TSB9-1",
            "evidence": [
                {
                    "id": "0070295",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070295"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6VNB8-1",
            "uniprot_ac": "Q6VNB8",
            "uniprot_id": "WDFY3_MOUSE",
            "refseq_ac": "NP_766470",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "WD repeat and FYVE domain-containing protein 3",
                    "type": "recommended"
                },
                {
                    "name": "BWF1",
                    "type": "synonym"
                },
                {
                    "name": "Beach domain, WD repeat and FYVE domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "WD repeat and FYVE domain-containing protein 3",
                    "type": "synonym"
                },
                {
                    "name": "beach domain, WD repeat and FYVE domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "galactosyltransferase 3 beta 1, 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Wdfy3",
                    "type": "recommended"
                },
                {
                    "name": "2610509D04Rik",
                    "type": "synonym"
                },
                {
                    "name": "ALFY",
                    "type": "synonym"
                },
                {
                    "name": "B930017C24",
                    "type": "synonym"
                },
                {
                    "name": "BWF1",
                    "type": "synonym"
                },
                {
                    "name": "Bchs",
                    "type": "synonym"
                },
                {
                    "name": "D5Ertd66e",
                    "type": "synonym"
                },
                {
                    "name": "Ggtb3",
                    "type": "synonym"
                },
                {
                    "name": "Wdfy3",
                    "type": "synonym"
                },
                {
                    "name": "ZFYVE25",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA0993",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6VNB8-1",
            "evidence": [
                {
                    "id": "0070295",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070295"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E9Q2M9-1",
            "uniprot_ac": "E9Q2M9",
            "uniprot_id": "WDFY4_MOUSE",
            "refseq_ac": "XP_006519340",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "WD repeat- and FYVE domain-containing protein 4",
                    "type": "recommended"
                },
                {
                    "name": "WD repeat- and FYVE domain-containing protein 4 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Wdfy4",
                    "type": "recommended"
                },
                {
                    "name": "Gm18810",
                    "type": "synonym"
                },
                {
                    "name": "Wdfy4",
                    "type": "synonym"
                }
            ],
            "record_id": "E9Q2M9-1",
            "evidence": [
                {
                    "id": "0070295",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070295"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8IZQ1-1",
            "uniprot_ac": "Q8IZQ1",
            "uniprot_id": "WDFY3_HUMAN",
            "refseq_ac": "NP_055806",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "WD repeat and FYVE domain-containing protein 3",
                    "type": "recommended"
                },
                {
                    "name": "Alfy",
                    "type": "synonym"
                },
                {
                    "name": "Autophagy-linked FYVE protein",
                    "type": "synonym"
                },
                {
                    "name": "WD repeat and FYVE domain-containing protein 3",
                    "type": "synonym"
                },
                {
                    "name": "autophagy-linked FYVE protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "WDFY3",
                    "type": "recommended"
                },
                {
                    "name": "ALFY",
                    "type": "synonym"
                },
                {
                    "name": "BCHS",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0993",
                    "type": "synonym"
                },
                {
                    "name": "MCPH18",
                    "type": "synonym"
                },
                {
                    "name": "WDFY3",
                    "type": "synonym"
                },
                {
                    "name": "ZFYVE25",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8IZQ1-1",
            "evidence": [
                {
                    "id": "617520",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617520"
                },
                {
                    "id": "0070295",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070295"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P25356-1",
            "uniprot_ac": "P25356",
            "uniprot_id": "BPH1_YEAST",
            "refseq_ac": "NP_009961",
            "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": "Beige protein homolog 1",
                    "type": "recommended"
                },
                {
                    "name": "Bph1p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BPH1",
                    "type": "recommended"
                },
                {
                    "name": "BPH1",
                    "type": "synonym"
                },
                {
                    "name": "YCR32W",
                    "type": "synonym"
                },
                {
                    "name": "YCR591",
                    "type": "synonym"
                },
                {
                    "name": "YCR601",
                    "type": "synonym"
                }
            ],
            "record_id": "P25356-1",
            "evidence": [
                {
                    "id": "0070295",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070295"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6A7K7-1",
            "uniprot_ac": "A0A8I6A7K7",
            "uniprot_id": "A0A8I6A7K7_RAT",
            "refseq_ac": "XP_038947754",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "WD repeat and FYVE domain-containing protein 3",
                    "type": "recommended"
                },
                {
                    "name": "WD repeat and FYVE domain-containing protein 3 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Wdfy3",
                    "type": "recommended"
                },
                {
                    "name": "Wdfy3",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6A7K7-1",
            "evidence": [
                {
                    "id": "0070295",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070295"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A748-1",
            "uniprot_ac": "D4A748",
            "uniprot_id": "D4A748_RAT",
            "refseq_ac": "NP_001414587",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "WD repeat- and FYVE domain-containing protein 4",
                    "type": "synonym"
                },
                {
                    "name": "WDFY family member 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Wdfy4",
                    "type": "recommended"
                },
                {
                    "name": "RGD1564142",
                    "type": "synonym"
                },
                {
                    "name": "Wdfy4",
                    "type": "synonym"
                }
            ],
            "record_id": "D4A748-1",
            "evidence": [
                {
                    "id": "0070295",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070295"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VML2-1",
            "uniprot_ac": "Q9VML2",
            "uniprot_id": "Q9VML2_DROME",
            "refseq_ac": "NP_608968",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Beach1",
                    "type": "synonym"
                },
                {
                    "name": "Beached1",
                    "type": "synonym"
                },
                {
                    "name": "Blue cheese",
                    "type": "synonym"
                },
                {
                    "name": "CG14001-PA",
                    "type": "synonym"
                },
                {
                    "name": "bchs-PA",
                    "type": "synonym"
                },
                {
                    "name": "beached 1",
                    "type": "synonym"
                },
                {
                    "name": "blue cheese",
                    "type": "synonym"
                },
                {
                    "name": "dbeach1",
                    "type": "synonym"
                },
                {
                    "name": "lyst",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "bchs",
                    "type": "recommended"
                },
                {
                    "name": "Alfy",
                    "type": "synonym"
                },
                {
                    "name": "BcDNA:SD12984",
                    "type": "synonym"
                },
                {
                    "name": "Bchs",
                    "type": "synonym"
                },
                {
                    "name": "Beach1",
                    "type": "synonym"
                },
                {
                    "name": "CG14001",
                    "type": "synonym"
                },
                {
                    "name": "CG9011",
                    "type": "synonym"
                },
                {
                    "name": "DBEACH1",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG14001",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG14001",
                    "type": "synonym"
                },
                {
                    "name": "EP2299",
                    "type": "synonym"
                },
                {
                    "name": "alfy",
                    "type": "synonym"
                },
                {
                    "name": "bchd",
                    "type": "synonym"
                },
                {
                    "name": "bchs",
                    "type": "synonym"
                },
                {
                    "name": "beach",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VML2-1",
            "evidence": [
                {
                    "id": "0070295",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070295"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6ZS81-1",
            "uniprot_ac": "Q6ZS81",
            "uniprot_id": "WDFY4_HUMAN",
            "refseq_ac": "NP_065996",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "WD repeat- and FYVE domain-containing protein 4",
                    "type": "recommended"
                },
                {
                    "name": "WD repeat- and FYVE domain-containing protein 4 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "WD repeat- and FYVE domain-containing protein 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "WDFY4",
                    "type": "recommended"
                },
                {
                    "name": "C10orf64",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1607",
                    "type": "synonym"
                },
                {
                    "name": "WDFY4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6ZS81-1",
            "evidence": [
                {
                    "id": "0070295",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070295"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070295"
}