{
    "disease_id": "DOID:0080106",
    "recommended_name": {
        "id": "DOID:0080106",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080106",
        "name": "microcephaly and chorioretinopathy 2",
        "description": "A syndrome that is characterized by delayed psychomotor development, visual impairment, and short stature and has_material_basis_in homozygous mutation in the PLK4 gene."
    },
    "synonyms": [
        {
            "id": "MONDO:0014516",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014516",
            "name": "microcephaly and chorioretinopathy 2",
            "description": "Any microcephaly and chorioretinopathy in which the cause of the disease is a mutation in the PLK4 gene."
        },
        {
            "id": "MONDO:0014516",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014516",
            "name": "PLK4 microcephaly and chorioretinopathy",
            "description": ""
        },
        {
            "id": "MONDO:0014516",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014516",
            "name": "microcephaly and chorioretinopathy caused by mutation in PLK4",
            "description": ""
        },
        {
            "id": "MONDO:0014516",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014516",
            "name": "microcephaly and chorioretinopathy type 2",
            "description": ""
        },
        {
            "id": "MONDO:0014516",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014516",
            "name": "microcephaly and chorioretinopathy, autosomal recessive, type 2",
            "description": ""
        },
        {
            "id": "MONDO:0014516",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014516",
            "name": "MCCRP2",
            "description": ""
        },
        {
            "id": "MONDO:0014516",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014516",
            "name": "microcephaly and chorioretinopathy, autosomal recessive, 2",
            "description": ""
        },
        {
            "id": "MIM:616171",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616171",
            "name": "Microcephaly and chorioretinopathy, autosomal recessive, 2",
            "description": "Microcephaly and chorioretinopathy, autosomal recessive, 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080106"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080106",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080106",
            "categories": []
        },
        {
            "id": "MONDO:0014516",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014516",
            "categories": []
        },
        {
            "id": "MIM:616171",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616171",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q7ZVS3-1",
            "uniprot_ac": "Q7ZVS3",
            "uniprot_id": "PLK4_DANRE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine/threonine-protein kinase PLK4",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.21",
                    "type": "synonym"
                },
                {
                    "name": "PLK-4",
                    "type": "synonym"
                },
                {
                    "name": "Polo-like kinase 4",
                    "type": "synonym"
                },
                {
                    "name": "Serine/threonine-protein kinase Sak",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "plk4",
                    "type": "recommended"
                },
                {
                    "name": "sak",
                    "type": "synonym"
                },
                {
                    "name": "stk18",
                    "type": "synonym"
                },
                {
                    "name": "wu:fi33g07",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7ZVS3-1",
            "evidence": [
                {
                    "id": "0080106",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080106"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q64702-1",
            "uniprot_ac": "Q64702",
            "uniprot_id": "PLK4_MOUSE",
            "refseq_ac": "NP_035625",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine/threonine-protein kinase PLK4",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.21",
                    "type": "synonym"
                },
                {
                    "name": "PLK-4",
                    "type": "synonym"
                },
                {
                    "name": "Polo-like kinase 4",
                    "type": "synonym"
                },
                {
                    "name": "Serine/threonine-protein kinase 18",
                    "type": "synonym"
                },
                {
                    "name": "Serine/threonine-protein kinase Sak",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine kinase 18",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase 18",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase PLK4 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase Plk4",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase Sak",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Plk4",
                    "type": "recommended"
                },
                {
                    "name": "1700028H20",
                    "type": "synonym"
                },
                {
                    "name": "Plk4",
                    "type": "synonym"
                },
                {
                    "name": "Sak",
                    "type": "synonym"
                },
                {
                    "name": "Stk18",
                    "type": "synonym"
                }
            ],
            "record_id": "Q64702-1",
            "evidence": [
                {
                    "id": "0080106",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080106"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O00444-1",
            "uniprot_ac": "O00444",
            "uniprot_id": "PLK4_HUMAN",
            "refseq_ac": "NP_001177728",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine/threonine-protein kinase PLK4",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.21",
                    "type": "synonym"
                },
                {
                    "name": "PLK-4",
                    "type": "synonym"
                },
                {
                    "name": "Polo-like kinase 4",
                    "type": "synonym"
                },
                {
                    "name": "Serine/threonine-protein kinase 18",
                    "type": "synonym"
                },
                {
                    "name": "Serine/threonine-protein kinase Sak",
                    "type": "synonym"
                },
                {
                    "name": "Snk akin kinase",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase 18",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase PLK4 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase PLK4",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase Sak",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PLK4",
                    "type": "recommended"
                },
                {
                    "name": "MCCRP2",
                    "type": "synonym"
                },
                {
                    "name": "PLK4",
                    "type": "synonym"
                },
                {
                    "name": "SAK",
                    "type": "synonym"
                },
                {
                    "name": "STK18",
                    "type": "synonym"
                }
            ],
            "record_id": "O00444-1",
            "evidence": [
                {
                    "id": "616171",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616171"
                },
                {
                    "id": "0080106",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080106"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B2GUY1-1",
            "uniprot_ac": "B2GUY1",
            "uniprot_id": "PLK4_RAT",
            "refseq_ac": "NP_001382032",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine/threonine-protein kinase PLK4",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.21",
                    "type": "synonym"
                },
                {
                    "name": "PLK-4",
                    "type": "synonym"
                },
                {
                    "name": "Polo-like kinase 4",
                    "type": "synonym"
                },
                {
                    "name": "Serine/threonine-protein kinase Sak",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase PLK4",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase Sak",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Plk4",
                    "type": "recommended"
                },
                {
                    "name": "Plk4",
                    "type": "synonym"
                },
                {
                    "name": "Sak",
                    "type": "synonym"
                }
            ],
            "record_id": "B2GUY1-1",
            "evidence": [
                {
                    "id": "0080106",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080106"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O97143-1",
            "uniprot_ac": "O97143",
            "uniprot_id": "PLK4_DROME",
            "refseq_ac": "NP_649324",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine/threonine-protein kinase PLK4",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.21",
                    "type": "synonym"
                },
                {
                    "name": "CG7186-PA",
                    "type": "synonym"
                },
                {
                    "name": "PLK-4",
                    "type": "synonym"
                },
                {
                    "name": "Polo-like kinase 4",
                    "type": "synonym"
                },
                {
                    "name": "SAK-PA",
                    "type": "synonym"
                },
                {
                    "name": "Sak kinase",
                    "type": "synonym"
                },
                {
                    "name": "Serine/threonine-protein kinase SAK",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SAK",
                    "type": "recommended"
                },
                {
                    "name": "CG7186",
                    "type": "synonym"
                },
                {
                    "name": "DSak",
                    "type": "synonym"
                },
                {
                    "name": "DmPLK4",
                    "type": "synonym"
                },
                {
                    "name": "DmPlk4",
                    "type": "synonym"
                },
                {
                    "name": "DmSAK",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7186",
                    "type": "synonym"
                },
                {
                    "name": "PLK4",
                    "type": "synonym"
                },
                {
                    "name": "Plk4",
                    "type": "synonym"
                },
                {
                    "name": "SAK/PLK4",
                    "type": "synonym"
                },
                {
                    "name": "SAK/PLK",
                    "type": "synonym"
                },
                {
                    "name": "SAK/Plk4",
                    "type": "synonym"
                },
                {
                    "name": "SAK",
                    "type": "synonym"
                },
                {
                    "name": "Sak/PLK4",
                    "type": "synonym"
                },
                {
                    "name": "Sak/Plk4",
                    "type": "synonym"
                },
                {
                    "name": "Sak",
                    "type": "synonym"
                },
                {
                    "name": "plk4",
                    "type": "synonym"
                },
                {
                    "name": "sak",
                    "type": "synonym"
                }
            ],
            "record_id": "O97143-1",
            "evidence": [
                {
                    "id": "0080106",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080106"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080106"
}