{
    "disease_id": "DOID:0070283",
    "recommended_name": {
        "id": "DOID:0070283",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070283",
        "name": "primary autosomal recessive microcephaly 13",
        "description": "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CENPE gene on chromosome 4q24."
    },
    "synonyms": [
        {
            "id": "DOID:0070283",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070283",
            "name": "MCPH13",
            "description": ""
        },
        {
            "id": "MONDO:0014473",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014473",
            "name": "microcephaly 13, primary, autosomal recessive",
            "description": "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CENPE gene."
        },
        {
            "id": "MONDO:0014473",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014473",
            "name": "CENPE autosomal recessive primary microcephaly",
            "description": ""
        },
        {
            "id": "MONDO:0014473",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014473",
            "name": "autosomal recessive primary microcephaly caused by mutation in CENPE",
            "description": ""
        },
        {
            "id": "MONDO:0014473",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014473",
            "name": "microcephaly 13, primary, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0014473",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014473",
            "name": "MCPH13",
            "description": ""
        },
        {
            "id": "MIM:616051",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616051",
            "name": "Microcephaly 13, primary, autosomal recessive",
            "description": "Microcephaly 13, primary, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070283"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070283",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070283",
            "categories": []
        },
        {
            "id": "MONDO:0014473",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014473",
            "categories": []
        },
        {
            "id": "MIM:616051",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616051",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E7F2U4-1",
            "uniprot_ac": "E7F2U4",
            "uniprot_id": "E7F2U4_DANRE",
            "refseq_ac": "NP_001314688",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Centromere-associated protein E",
                    "type": "recommended"
                },
                {
                    "name": "Centromere protein E",
                    "type": "synonym"
                },
                {
                    "name": "centromere-associated protein E",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cenpe",
                    "type": "recommended"
                },
                {
                    "name": "cenpe",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc06a10",
                    "type": "synonym"
                },
                {
                    "name": "zgc:152925",
                    "type": "synonym"
                }
            ],
            "record_id": "E7F2U4-1",
            "evidence": [
                {
                    "id": "0070283",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070283"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6RT24-1",
            "uniprot_ac": "Q6RT24",
            "uniprot_id": "CENPE_MOUSE",
            "refseq_ac": "NP_776123",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Centromere-associated protein E",
                    "type": "recommended"
                },
                {
                    "name": "CENP-E",
                    "type": "synonym"
                },
                {
                    "name": "Centromere protein E",
                    "type": "synonym"
                },
                {
                    "name": "KIF10",
                    "type": "synonym"
                },
                {
                    "name": "Kinesin superfamily protein 10",
                    "type": "synonym"
                },
                {
                    "name": "Motor domain of KIF10",
                    "type": "synonym"
                },
                {
                    "name": "N-7 kinesin",
                    "type": "synonym"
                },
                {
                    "name": "centromere autoantigen E",
                    "type": "synonym"
                },
                {
                    "name": "centromere-associated protein E",
                    "type": "synonym"
                },
                {
                    "name": "centromeric protein E",
                    "type": "synonym"
                },
                {
                    "name": "kinesin 10",
                    "type": "synonym"
                },
                {
                    "name": "kinesin superfamily protein 10",
                    "type": "synonym"
                },
                {
                    "name": "motor domain of KIF10",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cenpe",
                    "type": "recommended"
                },
                {
                    "name": "312kDa",
                    "type": "synonym"
                },
                {
                    "name": "C530022J18",
                    "type": "synonym"
                },
                {
                    "name": "CENP-E",
                    "type": "synonym"
                },
                {
                    "name": "Cenpe",
                    "type": "synonym"
                },
                {
                    "name": "Kif10",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6RT24-1",
            "evidence": [
                {
                    "id": "0070283",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070283"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q02224-1",
            "uniprot_ac": "Q02224",
            "uniprot_id": "CENPE_HUMAN",
            "refseq_ac": "NP_001273663",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Centromere-associated protein E",
                    "type": "recommended"
                },
                {
                    "name": "CENP-E",
                    "type": "synonym"
                },
                {
                    "name": "Centromere autoantigen E (312kD)",
                    "type": "synonym"
                },
                {
                    "name": "Centromere protein E",
                    "type": "synonym"
                },
                {
                    "name": "Kinesin-7",
                    "type": "synonym"
                },
                {
                    "name": "Kinesin-related protein CENPE",
                    "type": "synonym"
                },
                {
                    "name": "centromere protein E, 312kDa",
                    "type": "synonym"
                },
                {
                    "name": "centromere-associated protein E isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "centromere-associated protein E",
                    "type": "synonym"
                },
                {
                    "name": "kinesin family member 10",
                    "type": "synonym"
                },
                {
                    "name": "kinesin-7",
                    "type": "synonym"
                },
                {
                    "name": "kinesin-related protein CENPE",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase 1, regulatory subunit 61",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CENPE",
                    "type": "recommended"
                },
                {
                    "name": "CENP-E",
                    "type": "synonym"
                },
                {
                    "name": "CENPE",
                    "type": "synonym"
                },
                {
                    "name": "KIF10",
                    "type": "synonym"
                },
                {
                    "name": "MCPH13",
                    "type": "synonym"
                },
                {
                    "name": "PPP1R61",
                    "type": "synonym"
                }
            ],
            "record_id": "Q02224-1",
            "evidence": [
                {
                    "id": "616051",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616051"
                },
                {
                    "id": "0070283",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070283"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P28743-1",
            "uniprot_ac": "P28743",
            "uniprot_id": "KIP2_YEAST",
            "refseq_ac": "NP_015170",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Kinesin-like protein KIP2",
                    "type": "recommended"
                },
                {
                    "name": "Kip2p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KIP2",
                    "type": "recommended"
                },
                {
                    "name": "KIP2",
                    "type": "synonym"
                },
                {
                    "name": "P2581",
                    "type": "synonym"
                }
            ],
            "record_id": "P28743-1",
            "evidence": [
                {
                    "id": "0070283",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070283"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZV60-1",
            "uniprot_ac": "D3ZV60",
            "uniprot_id": "D3ZV60_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": "Centromere-associated protein E",
                    "type": "recommended"
                },
                {
                    "name": "Centromere protein E",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cenpe",
                    "type": "recommended"
                }
            ],
            "record_id": "D3ZV60-1",
            "evidence": [
                {
                    "id": "0070283",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070283"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VKH9-1",
            "uniprot_ac": "Q9VKH9",
            "uniprot_id": "Q9VKH9_DROME",
            "refseq_ac": "NP_001027247",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "5.6.1.3",
                    "type": "synonym"
                },
                {
                    "name": "CENP-ana, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "CG33694-PA",
                    "type": "synonym"
                },
                {
                    "name": "Kinesin7A",
                    "type": "synonym"
                },
                {
                    "name": "cana-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cana",
                    "type": "recommended"
                },
                {
                    "name": "CENP-E ana",
                    "type": "synonym"
                },
                {
                    "name": "CENPana",
                    "type": "synonym"
                },
                {
                    "name": "CG32955",
                    "type": "synonym"
                },
                {
                    "name": "CG33694",
                    "type": "synonym"
                },
                {
                    "name": "CG4831",
                    "type": "synonym"
                },
                {
                    "name": "CP15516",
                    "type": "synonym"
                },
                {
                    "name": "Cana",
                    "type": "synonym"
                },
                {
                    "name": "Cenp-E",
                    "type": "synonym"
                },
                {
                    "name": "Cenp_E",
                    "type": "synonym"
                },
                {
                    "name": "DmCana",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG33694",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG33694",
                    "type": "synonym"
                },
                {
                    "name": "KIF 10",
                    "type": "synonym"
                },
                {
                    "name": "KIF10",
                    "type": "synonym"
                },
                {
                    "name": "cana",
                    "type": "synonym"
                },
                {
                    "name": "l(2)k07716",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VKH9-1",
            "evidence": [
                {
                    "id": "0070283",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070283"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VKI0-1",
            "uniprot_ac": "Q9VKI0",
            "uniprot_id": "Q9VKI0_DROME",
            "refseq_ac": "NP_524993",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "5.6.1.3",
                    "type": "synonym"
                },
                {
                    "name": "CENP-meta, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "CG6392-PC",
                    "type": "synonym"
                },
                {
                    "name": "Cenp-meta",
                    "type": "synonym"
                },
                {
                    "name": "CenpMeta",
                    "type": "synonym"
                },
                {
                    "name": "Kinesin2A",
                    "type": "synonym"
                },
                {
                    "name": "cmet-PC",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cmet",
                    "type": "recommended"
                },
                {
                    "name": "CENP-E meta",
                    "type": "synonym"
                },
                {
                    "name": "CENP-E",
                    "type": "synonym"
                },
                {
                    "name": "CENP-META",
                    "type": "synonym"
                },
                {
                    "name": "CENP-Meta",
                    "type": "synonym"
                },
                {
                    "name": "CENPE",
                    "type": "synonym"
                },
                {
                    "name": "CENPmeta",
                    "type": "synonym"
                },
                {
                    "name": "CG6392",
                    "type": "synonym"
                },
                {
                    "name": "Cenp-E",
                    "type": "synonym"
                },
                {
                    "name": "Cenp-M",
                    "type": "synonym"
                },
                {
                    "name": "Cenp-meta",
                    "type": "synonym"
                },
                {
                    "name": "Cenp_E",
                    "type": "synonym"
                },
                {
                    "name": "Cmet",
                    "type": "synonym"
                },
                {
                    "name": "DmCmeta",
                    "type": "synonym"
                },
                {
                    "name": "DmCmet",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6392",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG6392",
                    "type": "synonym"
                },
                {
                    "name": "KIF 10",
                    "type": "synonym"
                },
                {
                    "name": "KIF10",
                    "type": "synonym"
                },
                {
                    "name": "cmet",
                    "type": "synonym"
                },
                {
                    "name": "l(2)04431",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VKI0-1",
            "evidence": [
                {
                    "id": "0070283",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070283"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070283"
}