{
    "disease_id": "DOID:0060356",
    "recommended_name": {
        "id": "DOID:0060356",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060356",
        "name": "Vici syndrome",
        "description": "A syndrome characterized by callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and hypopigmentation. It has_material_basis_in mutation in the EPG5 gene on chromosome 18q12.3."
    },
    "synonyms": [
        {
            "id": "DOID:0060356",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060356",
            "name": "immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum",
            "description": ""
        },
        {
            "id": "MONDO:0009452",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009452",
            "name": "Vici syndrome",
            "description": "A very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency."
        },
        {
            "id": "MONDO:0009452",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009452",
            "name": "Dionisi-Vici-Sabetta-Gambarara syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009452",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009452",
            "name": "Vici syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009452",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009452",
            "name": "absent corpus callosum-cataract-immunodeficiency syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009452",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009452",
            "name": "corpus callosum agenesis-cataract-immunodeficiency syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009452",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009452",
            "name": "immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum",
            "description": ""
        },
        {
            "id": "MONDO:0009452",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009452",
            "name": "Dionisi Vici Sabetta Gambarara syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009452",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009452",
            "name": "VICIS",
            "description": ""
        },
        {
            "id": "MONDO:0009452",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009452",
            "name": "absent corpus callosum cataract immunodeficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009452",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009452",
            "name": "immunodeficiency with cleft lip/palate, cataract, hypopigmentation and absent corpus callosum",
            "description": ""
        },
        {
            "id": "MIM:242840",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/242840",
            "name": "Vici syndrome",
            "description": "Vici syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060356"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060356",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060356",
            "categories": []
        },
        {
            "id": "MONDO:0009452",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009452",
            "categories": []
        },
        {
            "id": "MIM:242840",
            "database": "MIM",
            "url": "https://www.omim.org/entry/242840",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A5WUT8-1",
            "uniprot_ac": "A5WUT8",
            "uniprot_id": "EPG5_DANRE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ectopic P granules protein 5 homolog",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "epg5",
                    "type": "recommended"
                },
                {
                    "name": "si:dkey-165i4.3",
                    "type": "synonym"
                }
            ],
            "record_id": "A5WUT8-1",
            "evidence": [
                {
                    "id": "0060356",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060356"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q80TA9-1",
            "uniprot_ac": "Q80TA9",
            "uniprot_id": "EPG5_MOUSE",
            "refseq_ac": "NP_001182562",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ectopic P granules protein 5 homolog",
                    "type": "recommended"
                },
                {
                    "name": "ectopic P granules protein 5 homolog",
                    "type": "synonym"
                },
                {
                    "name": "ectopic P-granules autophagy protein 5 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Epg5",
                    "type": "recommended"
                },
                {
                    "name": "4732475F16",
                    "type": "synonym"
                },
                {
                    "name": "5430411K18Rik",
                    "type": "synonym"
                },
                {
                    "name": "Epg5",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa1632",
                    "type": "synonym"
                }
            ],
            "record_id": "Q80TA9-1",
            "evidence": [
                {
                    "id": "0060356",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060356"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9HCE0-1",
            "uniprot_ac": "Q9HCE0",
            "uniprot_id": "EPG5_HUMAN",
            "refseq_ac": "NP_066015",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ectopic P granules protein 5 homolog",
                    "type": "recommended"
                },
                {
                    "name": "ectopic P granules protein 5 homolog isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "ectopic P-granules autophagy protein 5 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "EPG5",
                    "type": "recommended"
                },
                {
                    "name": "EPG5",
                    "type": "synonym"
                },
                {
                    "name": "HEEW1",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1632",
                    "type": "synonym"
                },
                {
                    "name": "NEDPAM",
                    "type": "synonym"
                },
                {
                    "name": "VICIS",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9HCE0-1",
            "evidence": [
                {
                    "id": "242840",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/242840"
                },
                {
                    "id": "0060356",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060356"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2JZ84-1",
            "uniprot_ac": "A0A0G2JZ84",
            "uniprot_id": "A0A0G2JZ84_RAT",
            "refseq_ac": "NP_001414542",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ectopic P granules protein 5 homolog",
                    "type": "recommended"
                },
                {
                    "name": "ectopic P granules protein 5 homolog",
                    "type": "synonym"
                },
                {
                    "name": "ectopic P-granules autophagy protein 5 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Epg5",
                    "type": "recommended"
                },
                {
                    "name": "Epg5",
                    "type": "synonym"
                },
                {
                    "name": "RGD1306286",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0G2JZ84-1",
            "evidence": [
                {
                    "id": "0060356",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060356"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VE34-1",
            "uniprot_ac": "Q9VE34",
            "uniprot_id": "EPG5_DROME",
            "refseq_ac": "NP_650752",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ectopic P granules protein 5 homolog",
                    "type": "recommended"
                },
                {
                    "name": "CG14299-PC",
                    "type": "synonym"
                },
                {
                    "name": "Epg5-PC",
                    "type": "synonym"
                },
                {
                    "name": "ectopic P-granules autophagy protein 5, isoform C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Epg5",
                    "type": "recommended"
                },
                {
                    "name": "CG14299",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG14299",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG14299",
                    "type": "synonym"
                },
                {
                    "name": "EPG5",
                    "type": "synonym"
                },
                {
                    "name": "Epg5",
                    "type": "synonym"
                },
                {
                    "name": "epg5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VE34-1",
            "evidence": [
                {
                    "id": "0060356",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060356"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060356"
}