{
    "disease_id": "DOID:0070290",
    "recommended_name": {
        "id": "DOID:0070290",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070290",
        "name": "primary autosomal recessive microcephaly 6",
        "description": "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CENPJ gene on chromosome 13q12."
    },
    "synonyms": [
        {
            "id": "DOID:0070290",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070290",
            "name": "MCPH6",
            "description": ""
        },
        {
            "id": "MONDO:0012029",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012029",
            "name": "microcephaly 6, primary, autosomal recessive",
            "description": "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CENPJ gene."
        },
        {
            "id": "MONDO:0012029",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012029",
            "name": "CENPJ autosomal recessive primary microcephaly",
            "description": ""
        },
        {
            "id": "MONDO:0012029",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012029",
            "name": "autosomal recessive primary microcephaly caused by mutation in CENPJ",
            "description": ""
        },
        {
            "id": "MONDO:0012029",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012029",
            "name": "microcephaly 6, primary, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0012029",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012029",
            "name": "MCPH6",
            "description": ""
        },
        {
            "id": "MIM:608393",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/608393",
            "name": "Microcephaly 6, primary, autosomal recessive",
            "description": "Microcephaly 6, primary, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070290"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070290",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070290",
            "categories": []
        },
        {
            "id": "MONDO:0012029",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012029",
            "categories": []
        },
        {
            "id": "MIM:608393",
            "database": "MIM",
            "url": "https://www.omim.org/entry/608393",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M6YUD2-1",
            "uniprot_ac": "A0A8M6YUD2",
            "uniprot_id": "A0A8M6YUD2_DANRE",
            "refseq_ac": "XP_017208189",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Uncharacterized protein si:ch211-140l13.3 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein si:ch211-140l13.3 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "si:ch211-140l13.3",
                    "type": "recommended"
                },
                {
                    "name": "si:ch211-140l13.3",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M6YUD2-1",
            "evidence": [
                {
                    "id": "0070290",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070290"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q569L8-1",
            "uniprot_ac": "Q569L8",
            "uniprot_id": "CPAP_MOUSE",
            "refseq_ac": "NP_001014996",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Centrosomal P4.1-associated protein",
                    "type": "recommended"
                },
                {
                    "name": "CENP-J",
                    "type": "synonym"
                },
                {
                    "name": "Centromere protein J",
                    "type": "synonym"
                },
                {
                    "name": "Centrosome assembly and centriole elongation protein",
                    "type": "synonym"
                },
                {
                    "name": "centromere protein J",
                    "type": "synonym"
                },
                {
                    "name": "centrosomal P4.1-associated protein isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "centrosomal P4.1-associated protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cpap",
                    "type": "recommended"
                },
                {
                    "name": "4932437H03Rik",
                    "type": "synonym"
                },
                {
                    "name": "Cenpj",
                    "type": "synonym"
                },
                {
                    "name": "Cpap",
                    "type": "synonym"
                },
                {
                    "name": "Gm81",
                    "type": "synonym"
                },
                {
                    "name": "LAP",
                    "type": "synonym"
                },
                {
                    "name": "LIP1",
                    "type": "synonym"
                },
                {
                    "name": "Sas4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q569L8-1",
            "evidence": [
                {
                    "id": "0070290",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070290"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E9Q046-1",
            "uniprot_ac": "E9Q046",
            "uniprot_id": "E9Q046_MOUSE",
            "refseq_ac": "NP_001161050",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "T-complex protein 10c",
                    "type": "synonym"
                },
                {
                    "name": "t-complex protein 10c",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tcp10c",
                    "type": "recommended"
                },
                {
                    "name": "D17Leh66C",
                    "type": "synonym"
                },
                {
                    "name": "D17Leh66ca",
                    "type": "synonym"
                },
                {
                    "name": "Gm9880",
                    "type": "synonym"
                },
                {
                    "name": "T66C-a",
                    "type": "synonym"
                },
                {
                    "name": "Tcp-10c",
                    "type": "synonym"
                },
                {
                    "name": "Tcp10c",
                    "type": "synonym"
                }
            ],
            "record_id": "E9Q046-1",
            "evidence": [
                {
                    "id": "0070290",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070290"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E9PYJ0-1",
            "uniprot_ac": "E9PYJ0",
            "uniprot_id": "E9PYJ0_MOUSE",
            "refseq_ac": "NP_033367",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "T-complex protein 10b",
                    "type": "synonym"
                },
                {
                    "name": "t-complex protein 10b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tcp10b",
                    "type": "recommended"
                },
                {
                    "name": "D17Leh66B",
                    "type": "synonym"
                },
                {
                    "name": "D17Leh66ba",
                    "type": "synonym"
                },
                {
                    "name": "Gm10326",
                    "type": "synonym"
                },
                {
                    "name": "T66B-a",
                    "type": "synonym"
                },
                {
                    "name": "Tcp-10bt",
                    "type": "synonym"
                },
                {
                    "name": "Tcp-10b",
                    "type": "synonym"
                },
                {
                    "name": "Tcp10a",
                    "type": "synonym"
                },
                {
                    "name": "Tcp10b",
                    "type": "synonym"
                }
            ],
            "record_id": "E9PYJ0-1",
            "evidence": [
                {
                    "id": "0070290",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070290"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9HC77-1",
            "uniprot_ac": "Q9HC77",
            "uniprot_id": "CPAP_HUMAN",
            "refseq_ac": "NP_060921",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Centrosomal P4.1-associated protein",
                    "type": "recommended"
                },
                {
                    "name": "CENP-J",
                    "type": "synonym"
                },
                {
                    "name": "Centromere protein J",
                    "type": "synonym"
                },
                {
                    "name": "Centrosome assembly and centriole elongation protein",
                    "type": "synonym"
                },
                {
                    "name": "LAG-3-associated protein",
                    "type": "synonym"
                },
                {
                    "name": "LYST-interacting protein 1",
                    "type": "synonym"
                },
                {
                    "name": "LYST-interacting protein LIP1",
                    "type": "synonym"
                },
                {
                    "name": "LYST-interacting protein LIP7",
                    "type": "synonym"
                },
                {
                    "name": "Spindle assembly abnormal 4",
                    "type": "synonym"
                },
                {
                    "name": "centromere protein J",
                    "type": "synonym"
                },
                {
                    "name": "centrosomal P4.1-associated protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CPAP",
                    "type": "recommended"
                },
                {
                    "name": "BM032",
                    "type": "synonym"
                },
                {
                    "name": "CENP-J",
                    "type": "synonym"
                },
                {
                    "name": "CENPJ",
                    "type": "synonym"
                },
                {
                    "name": "CPAP",
                    "type": "synonym"
                },
                {
                    "name": "LAP",
                    "type": "synonym"
                },
                {
                    "name": "LIP1",
                    "type": "synonym"
                },
                {
                    "name": "MCPH6",
                    "type": "synonym"
                },
                {
                    "name": "SASS4",
                    "type": "synonym"
                },
                {
                    "name": "SCKL4",
                    "type": "synonym"
                },
                {
                    "name": "Sas-4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9HC77-1",
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                {
                    "id": "608393",
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                    "url": "https://www.omim.org/entry/608393"
                },
                {
                    "id": "0070290",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070290"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LZN8-1",
            "uniprot_ac": "A0ABK0LZN8",
            "uniprot_id": "A0ABK0LZN8_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                    "name": "Centrosomal P4.1-associated protein",
                    "type": "recommended"
                },
                {
                    "name": "Centromere protein J",
                    "type": "synonym"
                },
                {
                    "name": "Centrosome assembly and centriole elongation protein",
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                }
            ],
            "gene_names": [
                {
                    "name": "Cpap",
                    "type": "recommended"
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            ],
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                {
                    "id": "0070290",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070290"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LM52-1",
            "uniprot_ac": "A0ABK0LM52",
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                    "name": "Rattus norvegicus",
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                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "T-complex protein 10A homolog 2 isoform X2",
                    "type": "synonym"
                },
                {
                    "name": "T-complex protein 10b",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Tcp10b",
                    "type": "recommended"
                },
                {
                    "name": "Tcp10b",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ABK0LM52-1",
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                {
                    "id": "0070290",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0070290"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VI72-1",
            "uniprot_ac": "Q9VI72",
            "uniprot_id": "Q9VI72_DROME",
            "refseq_ac": "NP_649701",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG10061-PA",
                    "type": "synonym"
                },
                {
                    "name": "DSas-4",
                    "type": "synonym"
                },
                {
                    "name": "Sas-4-PA",
                    "type": "synonym"
                },
                {
                    "name": "Spindle assembly abnormal 4",
                    "type": "synonym"
                },
                {
                    "name": "drosophila Sas-4",
                    "type": "synonym"
                },
                {
                    "name": "spindle assembly abnormal 4 orthologue",
                    "type": "synonym"
                },
                {
                    "name": "spindle assembly abnormal 4 ortholog",
                    "type": "synonym"
                },
                {
                    "name": "spindle assembly abnormal 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sas-4",
                    "type": "recommended"
                },
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                    "name": "CENPJ",
                    "type": "synonym"
                },
                {
                    "name": "CG10061",
                    "type": "synonym"
                },
                {
                    "name": "CPAP",
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                },
                {
                    "name": "D-Sas4",
                    "type": "synonym"
                },
                {
                    "name": "D-sas4",
                    "type": "synonym"
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                {
                    "name": "DSAS-4",
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                },
                {
                    "name": "DSas-4",
                    "type": "synonym"
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                {
                    "name": "DSas4",
                    "type": "synonym"
                },
                {
                    "name": "DmSas4",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10061",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG10061",
                    "type": "synonym"
                },
                {
                    "name": "Dsas-4",
                    "type": "synonym"
                },
                {
                    "name": "Dsas4",
                    "type": "synonym"
                },
                {
                    "name": "SAS-4",
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                },
                {
                    "name": "SAS4",
                    "type": "synonym"
                },
                {
                    "name": "Sas-4",
                    "type": "synonym"
                },
                {
                    "name": "Sas4",
                    "type": "synonym"
                },
                {
                    "name": "d-SAS-4",
                    "type": "synonym"
                },
                {
                    "name": "dCPAP",
                    "type": "synonym"
                },
                {
                    "name": "dsas-4",
                    "type": "synonym"
                },
                {
                    "name": "l(3)S2214",
                    "type": "synonym"
                },
                {
                    "name": "l(3)s2214",
                    "type": "synonym"
                },
                {
                    "name": "sas-4",
                    "type": "synonym"
                },
                {
                    "name": "sas4",
                    "type": "synonym"
                }
            ],
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            "evidence": [
                {
                    "id": "0070290",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070290"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070290"
}