{
    "disease_id": "DOID:0070286",
    "recommended_name": {
        "id": "DOID:0070286",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070286",
        "name": "primary autosomal recessive microcephaly 3",
        "description": "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CDK5RAP2 gene on chromosome 9q33."
    },
    "synonyms": [
        {
            "id": "DOID:0070286",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070286",
            "name": "MCPH3",
            "description": ""
        },
        {
            "id": "MONDO:0011488",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011488",
            "name": "microcephaly 3, primary, autosomal recessive",
            "description": "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CDK5RAP2 gene."
        },
        {
            "id": "MONDO:0011488",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011488",
            "name": "CDK5RAP2 autosomal recessive primary microcephaly",
            "description": ""
        },
        {
            "id": "MONDO:0011488",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011488",
            "name": "autosomal recessive primary microcephaly caused by mutation in CDK5RAP2",
            "description": ""
        },
        {
            "id": "MONDO:0011488",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011488",
            "name": "microcephaly 3, primary, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0011488",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011488",
            "name": "MCPH3",
            "description": ""
        },
        {
            "id": "MIM:604804",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/604804",
            "name": "Microcephaly 3, primary, autosomal recessive",
            "description": "Microcephaly 3, primary, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070286"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070286",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070286",
            "categories": []
        },
        {
            "id": "MONDO:0011488",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011488",
            "categories": []
        },
        {
            "id": "MIM:604804",
            "database": "MIM",
            "url": "https://www.omim.org/entry/604804",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M3ATJ9-1",
            "uniprot_ac": "A0A8M3ATJ9",
            "uniprot_id": "A0A8M3ATJ9_DANRE",
            "refseq_ac": "XP_009293383",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "CDK5 regulatory subunit-associated protein 2 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cdk5rap2",
                    "type": "recommended"
                },
                {
                    "name": "cdk5rap2",
                    "type": "synonym"
                },
                {
                    "name": "cep215",
                    "type": "synonym"
                },
                {
                    "name": "fi74c05",
                    "type": "synonym"
                },
                {
                    "name": "wu:fi74c05",
                    "type": "synonym"
                },
                {
                    "name": "zgc:55582",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3ATJ9-1",
            "evidence": [
                {
                    "id": "0070286",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070286"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8K389-1",
            "uniprot_ac": "Q8K389",
            "uniprot_id": "CK5P2_MOUSE",
            "refseq_ac": "NP_666102",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "CDK5 regulatory subunit-associated protein 2",
                    "type": "recommended"
                },
                {
                    "name": "CDK5 activator-binding protein C48",
                    "type": "synonym"
                },
                {
                    "name": "CDK5 regulatory subunit-associated protein 2 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cdk5rap2",
                    "type": "recommended"
                },
                {
                    "name": "2900018K03Rik",
                    "type": "synonym"
                },
                {
                    "name": "Cdk5rap2",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa1633",
                    "type": "synonym"
                },
                {
                    "name": "an",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA1633",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8K389-1",
            "evidence": [
                {
                    "id": "0070286",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070286"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96SN8-1",
            "uniprot_ac": "Q96SN8",
            "uniprot_id": "CK5P2_HUMAN",
            "refseq_ac": "NP_001011649",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "CDK5 regulatory subunit-associated protein 2",
                    "type": "recommended"
                },
                {
                    "name": "CDK5 activator-binding protein C48",
                    "type": "synonym"
                },
                {
                    "name": "CDK5 regulatory subunit-associated protein 2 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "Centrosome-associated protein 215",
                    "type": "synonym"
                },
                {
                    "name": "centrosomal protein 215 kDa",
                    "type": "synonym"
                },
                {
                    "name": "centrosomin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CDK5RAP2",
                    "type": "recommended"
                },
                {
                    "name": "C48",
                    "type": "synonym"
                },
                {
                    "name": "CDK5RAP2",
                    "type": "synonym"
                },
                {
                    "name": "CEP215",
                    "type": "synonym"
                },
                {
                    "name": "Cep215",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1633",
                    "type": "synonym"
                },
                {
                    "name": "MCPH3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96SN8-1",
            "evidence": [
                {
                    "id": "604804",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/604804"
                },
                {
                    "id": "0070286",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070286"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9JLH5-1",
            "uniprot_ac": "Q9JLH5",
            "uniprot_id": "CK5P2_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": "CDK5 regulatory subunit-associated protein 2",
                    "type": "recommended"
                },
                {
                    "name": "CDK5 activator-binding protein C48",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cdk5rap2",
                    "type": "recommended"
                }
            ],
            "record_id": "Q9JLH5-1",
            "evidence": [
                {
                    "id": "0070286",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070286"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P54623-1",
            "uniprot_ac": "P54623",
            "uniprot_id": "CNN_DROME",
            "refseq_ac": "NP_001163141",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Centrosomin",
                    "type": "recommended"
                },
                {
                    "name": "CDK5RAP2",
                    "type": "synonym"
                },
                {
                    "name": "CG4832-PG",
                    "type": "synonym"
                },
                {
                    "name": "Protein arrow",
                    "type": "synonym"
                },
                {
                    "name": "centrosmin",
                    "type": "synonym"
                },
                {
                    "name": "centrosomin, isoform G",
                    "type": "synonym"
                },
                {
                    "name": "centrosomin",
                    "type": "synonym"
                },
                {
                    "name": "cnn-PG",
                    "type": "synonym"
                },
                {
                    "name": "maternal effect syncytial blastoderm arrest C",
                    "type": "synonym"
                },
                {
                    "name": "oblivious",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cnn",
                    "type": "recommended"
                },
                {
                    "name": "Arr",
                    "type": "synonym"
                },
                {
                    "name": "CG 4832",
                    "type": "synonym"
                },
                {
                    "name": "CG18370",
                    "type": "synonym"
                },
                {
                    "name": "CG4832",
                    "type": "synonym"
                },
                {
                    "name": "CNN",
                    "type": "synonym"
                },
                {
                    "name": "Cnn1",
                    "type": "synonym"
                },
                {
                    "name": "Cnn",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4832",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4832",
                    "type": "synonym"
                },
                {
                    "name": "cen",
                    "type": "synonym"
                },
                {
                    "name": "cnn",
                    "type": "synonym"
                },
                {
                    "name": "mat(2)syn-C",
                    "type": "synonym"
                },
                {
                    "name": "mat(2)synHK21",
                    "type": "synonym"
                },
                {
                    "name": "mfs",
                    "type": "synonym"
                },
                {
                    "name": "obv",
                    "type": "synonym"
                }
            ],
            "record_id": "P54623-1",
            "evidence": [
                {
                    "id": "0070286",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070286"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070286"
}