{
    "disease_id": "DOID:0070282",
    "recommended_name": {
        "id": "DOID:0070282",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070282",
        "name": "primary autosomal recessive microcephaly 8",
        "description": "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CEP135 gene on chromosome 4q."
    },
    "synonyms": [
        {
            "id": "DOID:0070282",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070282",
            "name": "MCPH8",
            "description": ""
        },
        {
            "id": "MONDO:0013849",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013849",
            "name": "microcephaly 8, primary, autosomal recessive",
            "description": "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CEP135 gene."
        },
        {
            "id": "MONDO:0013849",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013849",
            "name": "CEP135 autosomal recessive primary microcephaly",
            "description": ""
        },
        {
            "id": "MONDO:0013849",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013849",
            "name": "autosomal recessive primary microcephaly caused by mutation in CEP135",
            "description": ""
        },
        {
            "id": "MONDO:0013849",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013849",
            "name": "microcephaly 8, primary, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0013849",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013849",
            "name": "MCPH8",
            "description": ""
        },
        {
            "id": "MIM:614673",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614673",
            "name": "Microcephaly 8, primary, autosomal recessive",
            "description": "Microcephaly 8, primary, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070282"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070282",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070282",
            "categories": []
        },
        {
            "id": "MONDO:0013849",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013849",
            "categories": []
        },
        {
            "id": "MIM:614673",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614673",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q5RG45-1",
            "uniprot_ac": "Q5RG45",
            "uniprot_id": "CP135_DANRE",
            "refseq_ac": "NP_001186919",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Centrosomal protein of 135 kDa",
                    "type": "recommended"
                },
                {
                    "name": "Cep135",
                    "type": "synonym"
                },
                {
                    "name": "centrosomal protein of 135 kDa",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cep135",
                    "type": "recommended"
                },
                {
                    "name": "cep135",
                    "type": "synonym"
                },
                {
                    "name": "si:dkeyp-117h8.1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5RG45-1",
            "evidence": [
                {
                    "id": "0070282",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070282"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6P5D4-1",
            "uniprot_ac": "Q6P5D4",
            "uniprot_id": "CP135_MOUSE",
            "refseq_ac": "NP_950197",
            "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 135 kDa",
                    "type": "recommended"
                },
                {
                    "name": "Centrosomal protein 4",
                    "type": "synonym"
                },
                {
                    "name": "Cep135",
                    "type": "synonym"
                },
                {
                    "name": "centrosomal protein 4",
                    "type": "synonym"
                },
                {
                    "name": "centrosomal protein of 135 kDa",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cep135",
                    "type": "recommended"
                },
                {
                    "name": "Cep135",
                    "type": "synonym"
                },
                {
                    "name": "Cep4",
                    "type": "synonym"
                },
                {
                    "name": "Gm1044",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa0635",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6P5D4-1",
            "evidence": [
                {
                    "id": "0070282",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070282"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q66GS9-1",
            "uniprot_ac": "Q66GS9",
            "uniprot_id": "CP135_HUMAN",
            "refseq_ac": "NP_079285",
            "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 135 kDa",
                    "type": "recommended"
                },
                {
                    "name": "Centrosomal protein 4",
                    "type": "synonym"
                },
                {
                    "name": "Cep135",
                    "type": "synonym"
                },
                {
                    "name": "centrosomal protein 135kDa",
                    "type": "synonym"
                },
                {
                    "name": "centrosomal protein 4",
                    "type": "synonym"
                },
                {
                    "name": "centrosomal protein of 135 kDa",
                    "type": "synonym"
                },
                {
                    "name": "centrosome protein cep135",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CEP135",
                    "type": "recommended"
                },
                {
                    "name": "CEP135",
                    "type": "synonym"
                },
                {
                    "name": "CEP4",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0635",
                    "type": "synonym"
                },
                {
                    "name": "MCPH8",
                    "type": "synonym"
                }
            ],
            "record_id": "Q66GS9-1",
            "evidence": [
                {
                    "id": "614673",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614673"
                },
                {
                    "id": "0070282",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070282"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZI35-1",
            "uniprot_ac": "D3ZI35",
            "uniprot_id": "D3ZI35_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": "Centrosomal protein 135",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cep135",
                    "type": "recommended"
                }
            ],
            "record_id": "D3ZI35-1",
            "evidence": [
                {
                    "id": "0070282",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070282"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "M9MSL4-1",
            "uniprot_ac": "M9MSL4",
            "uniprot_id": "M9MSL4_DROME",
            "refseq_ac": "NP_001189108",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG17081-PB",
                    "type": "synonym"
                },
                {
                    "name": "Centrosomal protein 135kDa, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "Cep135-PB",
                    "type": "synonym"
                },
                {
                    "name": "centrosomal protein 135kDa, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cep135",
                    "type": "recommended"
                },
                {
                    "name": "BLD10",
                    "type": "synonym"
                },
                {
                    "name": "Bld-10",
                    "type": "synonym"
                },
                {
                    "name": "Bld10p",
                    "type": "synonym"
                },
                {
                    "name": "Bld10",
                    "type": "synonym"
                },
                {
                    "name": "CEP135",
                    "type": "synonym"
                },
                {
                    "name": "CG17081",
                    "type": "synonym"
                },
                {
                    "name": "Cep135/bld10",
                    "type": "synonym"
                },
                {
                    "name": "Cep135",
                    "type": "synonym"
                },
                {
                    "name": "DBld10",
                    "type": "synonym"
                },
                {
                    "name": "DCep135/Bld10",
                    "type": "synonym"
                },
                {
                    "name": "DCep135",
                    "type": "synonym"
                },
                {
                    "name": "DmBLD10",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG17081",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG17081",
                    "type": "synonym"
                },
                {
                    "name": "bld10",
                    "type": "synonym"
                },
                {
                    "name": "dbld10",
                    "type": "synonym"
                }
            ],
            "record_id": "M9MSL4-1",
            "evidence": [
                {
                    "id": "0070282",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070282"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070282"
}