{
    "disease_id": "DOID:0080142",
    "recommended_name": {
        "id": "DOID:0080142",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080142",
        "name": "mosaic variegated aneuploidy syndrome 2",
        "description": "A mosaic variegated aneuploidy syndrome that is characterized by slowly before and after birth and typically normal head size and that has_material_basis_in homozygous or compound heterozygous mutation in the CEP57 gene on chromosome 11q21."
    },
    "synonyms": [
        {
            "id": "MONDO:0013582",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013582",
            "name": "mosaic variegated aneuploidy syndrome 2",
            "description": "Any mosaic variegated aneuploidy syndrome in which the cause of the disease is a mutation in the CEP57 gene."
        },
        {
            "id": "MONDO:0013582",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013582",
            "name": "CEP57 mosaic variegated aneuploidy syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013582",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013582",
            "name": "Mosaic variegated aneuploidy syndrome type 2",
            "description": ""
        },
        {
            "id": "MONDO:0013582",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013582",
            "name": "mosaic variegated aneuploidy syndrome 2",
            "description": ""
        },
        {
            "id": "MONDO:0013582",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013582",
            "name": "mosaic variegated aneuploidy syndrome caused by mutation in CEP57",
            "description": ""
        },
        {
            "id": "MONDO:0013582",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013582",
            "name": "mosaic variegated aneuploidy syndrome type 2",
            "description": ""
        },
        {
            "id": "MONDO:0013582",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013582",
            "name": "MVA2",
            "description": ""
        },
        {
            "id": "MIM:614114",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614114",
            "name": "Mosaic variegated aneuploidy syndrome 2",
            "description": "Mosaic variegated aneuploidy syndrome 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080142"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080142",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080142",
            "categories": []
        },
        {
            "id": "MONDO:0013582",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013582",
            "categories": []
        },
        {
            "id": "MIM:614114",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614114",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8CEE0-1",
            "uniprot_ac": "Q8CEE0",
            "uniprot_id": "CEP57_MOUSE",
            "refseq_ac": "NP_001297650",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Centrosomal protein of 57 kDa",
                    "type": "recommended"
                },
                {
                    "name": "Cep57",
                    "type": "synonym"
                },
                {
                    "name": "Testis-specific protein 57",
                    "type": "synonym"
                },
                {
                    "name": "Translokin",
                    "type": "synonym"
                },
                {
                    "name": "centrosomal protein of 57 kDa isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "centrosomal protein of 57 kDa",
                    "type": "synonym"
                },
                {
                    "name": "testis-specific protein 57",
                    "type": "synonym"
                },
                {
                    "name": "translokin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cep57",
                    "type": "recommended"
                },
                {
                    "name": "3110002L15Rik",
                    "type": "synonym"
                },
                {
                    "name": "4921510P06Rik",
                    "type": "synonym"
                },
                {
                    "name": "4931428M20Rik",
                    "type": "synonym"
                },
                {
                    "name": "Cep57",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa0092",
                    "type": "synonym"
                },
                {
                    "name": "Tsp57",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA0092",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8CEE0-1",
            "evidence": [
                {
                    "id": "0080142",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080142"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q86XR8-1",
            "uniprot_ac": "Q86XR8",
            "uniprot_id": "CEP57_HUMAN",
            "refseq_ac": "NP_001230705",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Centrosomal protein of 57 kDa",
                    "type": "recommended"
                },
                {
                    "name": "Cep57",
                    "type": "synonym"
                },
                {
                    "name": "FGF2-interacting protein",
                    "type": "synonym"
                },
                {
                    "name": "Testis-specific protein 57",
                    "type": "synonym"
                },
                {
                    "name": "Translokin",
                    "type": "synonym"
                },
                {
                    "name": "centrosomal protein 57kDa",
                    "type": "synonym"
                },
                {
                    "name": "centrosomal protein of 57 kDa isoform b",
                    "type": "synonym"
                },
                {
                    "name": "proliferation-inducing protein 8",
                    "type": "synonym"
                },
                {
                    "name": "testis-specific protein 57",
                    "type": "synonym"
                },
                {
                    "name": "translokin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CEP57",
                    "type": "recommended"
                },
                {
                    "name": "CEP57",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0092",
                    "type": "synonym"
                },
                {
                    "name": "MVA2",
                    "type": "synonym"
                },
                {
                    "name": "PIG8",
                    "type": "synonym"
                },
                {
                    "name": "TSP57",
                    "type": "synonym"
                }
            ],
            "record_id": "Q86XR8-1",
            "evidence": [
                {
                    "id": "614114",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614114"
                },
                {
                    "id": "0080142",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080142"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B4F7A7-1",
            "uniprot_ac": "B4F7A7",
            "uniprot_id": "CEP57_RAT",
            "refseq_ac": "NP_001101594",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Centrosomal protein of 57 kDa",
                    "type": "recommended"
                },
                {
                    "name": "Cep57",
                    "type": "synonym"
                },
                {
                    "name": "Translokin",
                    "type": "synonym"
                },
                {
                    "name": "centrosomal protein 57kDa",
                    "type": "synonym"
                },
                {
                    "name": "centrosomal protein of 57 kDa",
                    "type": "synonym"
                },
                {
                    "name": "translokin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cep57",
                    "type": "recommended"
                },
                {
                    "name": "3110002l15rik",
                    "type": "synonym"
                },
                {
                    "name": "Cep57",
                    "type": "synonym"
                },
                {
                    "name": "RGD1309884",
                    "type": "synonym"
                }
            ],
            "record_id": "B4F7A7-1",
            "evidence": [
                {
                    "id": "0080142",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080142"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080142"
}