{
    "disease_id": "DOID:0070284",
    "recommended_name": {
        "id": "DOID:0070284",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070284",
        "name": "primary autosomal recessive microcephaly 12",
        "description": "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CDK6 gene on chromosome 7q21."
    },
    "synonyms": [
        {
            "id": "DOID:0070284",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070284",
            "name": "MCPH12",
            "description": ""
        },
        {
            "id": "MONDO:0014484",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014484",
            "name": "microcephaly 12, primary, autosomal recessive",
            "description": "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CDK6 gene."
        },
        {
            "id": "MONDO:0014484",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014484",
            "name": "CDK6 autosomal recessive primary microcephaly",
            "description": ""
        },
        {
            "id": "MONDO:0014484",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014484",
            "name": "autosomal recessive primary microcephaly caused by mutation in CDK6",
            "description": ""
        },
        {
            "id": "MONDO:0014484",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014484",
            "name": "microcephaly 12, primary, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0014484",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014484",
            "name": "MCPH12",
            "description": ""
        },
        {
            "id": "MIM:616080",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616080",
            "name": "Microcephaly 12, primary, autosomal recessive",
            "description": "Microcephaly 12, primary, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070284"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070284",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070284",
            "categories": []
        },
        {
            "id": "MONDO:0014484",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014484",
            "categories": []
        },
        {
            "id": "MIM:616080",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616080",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "I3IT74-1",
            "uniprot_ac": "I3IT74",
            "uniprot_id": "I3IT74_DANRE",
            "refseq_ac": "NP_001137525",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "cyclin-dependent kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.22",
                    "type": "synonym"
                },
                {
                    "name": "cyclin-dependent kinase 6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cdk6",
                    "type": "recommended"
                },
                {
                    "name": "cdk6",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-234f14.1",
                    "type": "synonym"
                }
            ],
            "record_id": "I3IT74-1",
            "evidence": [
                {
                    "id": "0070284",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070284"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q64261-1",
            "uniprot_ac": "Q64261",
            "uniprot_id": "CDK6_MOUSE",
            "refseq_ac": "NP_034003",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cyclin-dependent kinase 6",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.22",
                    "type": "synonym"
                },
                {
                    "name": "CR2 protein kinase",
                    "type": "synonym"
                },
                {
                    "name": "CRK2",
                    "type": "synonym"
                },
                {
                    "name": "Cell division protein kinase 6",
                    "type": "synonym"
                },
                {
                    "name": "Serine/threonine-protein kinase PLSTIRE",
                    "type": "synonym"
                },
                {
                    "name": "cell division protein kinase 6",
                    "type": "synonym"
                },
                {
                    "name": "cyclin-dependent kinase 6",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase PLSTIRE",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cdk6",
                    "type": "recommended"
                },
                {
                    "name": "Cdk6",
                    "type": "synonym"
                },
                {
                    "name": "Cdkn6",
                    "type": "synonym"
                },
                {
                    "name": "Crk2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q64261-1",
            "evidence": [
                {
                    "id": "0070284",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070284"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q00534-1",
            "uniprot_ac": "Q00534",
            "uniprot_id": "CDK6_HUMAN",
            "refseq_ac": "NP_001138778",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cyclin-dependent kinase 6",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.22",
                    "type": "synonym"
                },
                {
                    "name": "Cell division protein kinase 6",
                    "type": "synonym"
                },
                {
                    "name": "Serine/threonine-protein kinase PLSTIRE",
                    "type": "synonym"
                },
                {
                    "name": "cell division protein kinase 6",
                    "type": "synonym"
                },
                {
                    "name": "cyclin-dependent kinase 6",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase PLSTIRE",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CDK6",
                    "type": "recommended"
                },
                {
                    "name": "CDK6",
                    "type": "synonym"
                },
                {
                    "name": "CDKN6",
                    "type": "synonym"
                },
                {
                    "name": "MCPH12",
                    "type": "synonym"
                },
                {
                    "name": "PLSTIRE",
                    "type": "synonym"
                }
            ],
            "record_id": "Q00534-1",
            "evidence": [
                {
                    "id": "616080",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616080"
                },
                {
                    "id": "0070284",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070284"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P43568-1",
            "uniprot_ac": "P43568",
            "uniprot_id": "CAK1_YEAST",
            "refseq_ac": "NP_116624",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine/threonine-protein kinase CAK1",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.22",
                    "type": "synonym"
                },
                {
                    "name": "CDK-activating kinase",
                    "type": "synonym"
                },
                {
                    "name": "cyclin-dependent protein kinase-activating kinase CAK1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CAK1",
                    "type": "recommended"
                },
                {
                    "name": "CAK1",
                    "type": "synonym"
                },
                {
                    "name": "CIV1",
                    "type": "synonym"
                }
            ],
            "record_id": "P43568-1",
            "evidence": [
                {
                    "id": "0070284",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070284"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1MA87-1",
            "uniprot_ac": "F1MA87",
            "uniprot_id": "F1MA87_RAT",
            "refseq_ac": "NP_001178790",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "cyclin-dependent kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.22",
                    "type": "synonym"
                },
                {
                    "name": "cell division protein kinase 6",
                    "type": "synonym"
                },
                {
                    "name": "cyclin-dependent kinase 6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cdk6",
                    "type": "recommended"
                },
                {
                    "name": "Cdk6",
                    "type": "synonym"
                }
            ],
            "record_id": "F1MA87-1",
            "evidence": [
                {
                    "id": "0070284",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070284"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070284"
}