{
    "disease_id": "DOID:0060981",
    "recommended_name": {
        "id": "DOID:0060981",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060981",
        "name": "mosaic variegated aneuploidy syndrome 4",
        "description": "A mosaic variegated aneuploidy syndrome that is characterized by mosaic aneuploidy, patients have microcephaly, mild developmental delay, and mild maculopathy and that has_material_basis_in compound heterozygous mutation in the CENATAC gene on chromosome 11q23."
    },
    "synonyms": [
        {
            "id": "DOID:0060981",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060981",
            "name": "MVA4",
            "description": ""
        },
        {
            "id": "MONDO:0859329",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859329",
            "name": "mosaic variegated aneuploidy syndrome 4",
            "description": ""
        },
        {
            "id": "MIM:620153",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620153",
            "name": "Mosaic variegated aneuploidy syndrome 4",
            "description": "Mosaic variegated aneuploidy syndrome 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060981"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060981",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060981",
            "categories": []
        },
        {
            "id": "MONDO:0859329",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859329",
            "categories": []
        },
        {
            "id": "MIM:620153",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620153",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1QIL3-1",
            "uniprot_ac": "F1QIL3",
            "uniprot_id": "F1QIL3_DANRE",
            "refseq_ac": "NP_001314856",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Centrosomal AT-AC splicing factor",
                    "type": "synonym"
                },
                {
                    "name": "centrosomal AT-AC splicing factor",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain containing 84",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cenatac",
                    "type": "recommended"
                },
                {
                    "name": "ccdc84",
                    "type": "synonym"
                },
                {
                    "name": "cenatac",
                    "type": "synonym"
                },
                {
                    "name": "zgc:153059",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QIL3-1",
            "evidence": [
                {
                    "id": "0060981",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060981"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q4VA36-1",
            "uniprot_ac": "Q4VA36",
            "uniprot_id": "CATAC_MOUSE",
            "refseq_ac": "NP_958760",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Centrosomal AT-AC splicing factor",
                    "type": "recommended"
                },
                {
                    "name": "Coiled-coil domain-containing protein 84",
                    "type": "synonym"
                },
                {
                    "name": "centrosomal AT-AC splicing factor",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain containing 84",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain-containing protein 84",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cenatac",
                    "type": "recommended"
                },
                {
                    "name": "Ccdc84",
                    "type": "synonym"
                },
                {
                    "name": "Cenatac",
                    "type": "synonym"
                },
                {
                    "name": "D630044F24Rik",
                    "type": "synonym"
                },
                {
                    "name": "Gm1114",
                    "type": "synonym"
                }
            ],
            "record_id": "Q4VA36-1",
            "evidence": [
                {
                    "id": "0060981",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060981"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q86UT8-1",
            "uniprot_ac": "Q86UT8",
            "uniprot_id": "CATAC_HUMAN",
            "refseq_ac": "NP_940891",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Centrosomal AT-AC splicing factor",
                    "type": "recommended"
                },
                {
                    "name": "Coiled-coil domain-containing protein 84",
                    "type": "synonym"
                },
                {
                    "name": "centrosomal AT-AC splicing factor",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain containing 84",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain-containing protein 84",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CENATAC",
                    "type": "recommended"
                },
                {
                    "name": "CCDC84",
                    "type": "synonym"
                },
                {
                    "name": "CENATAC",
                    "type": "synonym"
                },
                {
                    "name": "DLNB14",
                    "type": "synonym"
                },
                {
                    "name": "MVA4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q86UT8-1",
            "evidence": [
                {
                    "id": "620153",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620153"
                },
                {
                    "id": "0060981",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060981"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A553-1",
            "uniprot_ac": "D4A553",
            "uniprot_id": "D4A553_RAT",
            "refseq_ac": "XP_008764400",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Centrosomal AT-AC splicing factor",
                    "type": "synonym"
                },
                {
                    "name": "centrosomal AT-AC splicing factor isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cenatac",
                    "type": "recommended"
                },
                {
                    "name": "Ccdc84",
                    "type": "synonym"
                },
                {
                    "name": "Cenatac",
                    "type": "synonym"
                }
            ],
            "record_id": "D4A553-1",
            "evidence": [
                {
                    "id": "0060981",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060981"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060981"
}