{
    "disease_id": "DOID:0090134",
    "recommended_name": {
        "id": "DOID:0090134",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0090134",
        "name": "complex cortical dysplasia with other brain malformations 3",
        "description": "A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the kinesin family member 2A (KIF2A) gene on chromosome 5q12."
    },
    "synonyms": [
        {
            "id": "DOID:0090134",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090134",
            "name": "CDCBM3",
            "description": ""
        },
        {
            "id": "MONDO:0014170",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014170",
            "name": "complex cortical dysplasia with other brain malformations 3",
            "description": "Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the KIF2A gene."
        },
        {
            "id": "MONDO:0014170",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014170",
            "name": "CDCBM3",
            "description": ""
        },
        {
            "id": "MONDO:0014170",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014170",
            "name": "KIF2A complex cortical dysplasia with other brain malformations",
            "description": ""
        },
        {
            "id": "MONDO:0014170",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014170",
            "name": "complex cortical dysplasia with other brain malformations caused by mutation in KIF2A",
            "description": ""
        },
        {
            "id": "MONDO:0014170",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014170",
            "name": "complex cortical dysplasia with other brain malformations type 3",
            "description": ""
        },
        {
            "id": "MONDO:0014170",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014170",
            "name": "cortical dysplasia, Complex, with Other brain malformations type 3",
            "description": ""
        },
        {
            "id": "MONDO:0014170",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014170",
            "name": "cortical dysplasia, complex, with other brain malformations 3",
            "description": ""
        },
        {
            "id": "MIM:615411",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615411",
            "name": "Cortical dysplasia, complex, with other brain malformations 3",
            "description": "Cortical dysplasia, complex, with other brain malformations 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0090134"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0090134",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090134",
            "categories": []
        },
        {
            "id": "MONDO:0014170",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014170",
            "categories": []
        },
        {
            "id": "MIM:615411",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615411",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M2BEB6-1",
            "uniprot_ac": "A0A8M2BEB6",
            "uniprot_id": "A0A8M2BEB6_DANRE",
            "refseq_ac": "XP_005166887",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Kinesin-like protein",
                    "type": "recommended"
                },
                {
                    "name": "kinesin-like protein KIF2A isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "kif2a",
                    "type": "recommended"
                },
                {
                    "name": "fj55b02",
                    "type": "synonym"
                },
                {
                    "name": "kif2a",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj55b02",
                    "type": "synonym"
                },
                {
                    "name": "zgc:103670",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2BEB6-1",
            "evidence": [
                {
                    "id": "0090134",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090134"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P28740-3",
            "uniprot_ac": "P28740",
            "uniprot_id": "KIF2A_MOUSE",
            "refseq_ac": "NP_001139251",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Kinesin-like protein KIF2A",
                    "type": "recommended"
                },
                {
                    "name": "Kinesin-2",
                    "type": "synonym"
                },
                {
                    "name": "kinesin heavy chain member 2",
                    "type": "synonym"
                },
                {
                    "name": "kinesin-2",
                    "type": "synonym"
                },
                {
                    "name": "kinesin-like protein KIF2A isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "kinesin-like protein KIF2A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kif2a",
                    "type": "recommended"
                },
                {
                    "name": "C530030B14Rik",
                    "type": "synonym"
                },
                {
                    "name": "Kif2a",
                    "type": "synonym"
                },
                {
                    "name": "Kif2",
                    "type": "synonym"
                },
                {
                    "name": "Kns2",
                    "type": "synonym"
                },
                {
                    "name": "M-kinesin",
                    "type": "synonym"
                }
            ],
            "record_id": "P28740-3",
            "evidence": [
                {
                    "id": "0090134",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090134"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O00139-3",
            "uniprot_ac": "O00139",
            "uniprot_id": "KIF2A_HUMAN",
            "refseq_ac": "NP_001091981",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Kinesin-like protein KIF2A",
                    "type": "recommended"
                },
                {
                    "name": "Kinesin, heavy chain, 2",
                    "type": "synonym"
                },
                {
                    "name": "Kinesin-2",
                    "type": "synonym"
                },
                {
                    "name": "hK2",
                    "type": "synonym"
                },
                {
                    "name": "kinesin heavy chain member 2A",
                    "type": "synonym"
                },
                {
                    "name": "kinesin-2",
                    "type": "synonym"
                },
                {
                    "name": "kinesin-like protein KIF2A isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "kinesin-like protein KIF2A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KIF2A",
                    "type": "recommended"
                },
                {
                    "name": "CDCBM3",
                    "type": "synonym"
                },
                {
                    "name": "HK2",
                    "type": "synonym"
                },
                {
                    "name": "KIF2A",
                    "type": "synonym"
                },
                {
                    "name": "KIF2",
                    "type": "synonym"
                },
                {
                    "name": "KNS2",
                    "type": "synonym"
                }
            ],
            "record_id": "O00139-3",
            "evidence": [
                {
                    "id": "615411",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615411"
                },
                {
                    "id": "0090134",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090134"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9WV63-1",
            "uniprot_ac": "Q9WV63",
            "uniprot_id": "KIF2A_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Kinesin-like protein KIF2A",
                    "type": "recommended"
                },
                {
                    "name": "Kinesin-2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kif2a",
                    "type": "recommended"
                },
                {
                    "name": "Kif2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9WV63-1",
            "evidence": [
                {
                    "id": "0090134",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090134"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q960Z0-1",
            "uniprot_ac": "Q960Z0",
            "uniprot_id": "KI10A_DROME",
            "refseq_ac": "NP_001285109",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Kinesin-like protein Klp10A",
                    "type": "recommended"
                },
                {
                    "name": "CG1453-PF",
                    "type": "synonym"
                },
                {
                    "name": "Kinesin-like protein at 10A, isoform F",
                    "type": "synonym"
                },
                {
                    "name": "Kinesin-like protein at cytological position 10A",
                    "type": "synonym"
                },
                {
                    "name": "Kinesin13B",
                    "type": "synonym"
                },
                {
                    "name": "Klp10A-PF",
                    "type": "synonym"
                },
                {
                    "name": "kinesin-13 motor",
                    "type": "synonym"
                },
                {
                    "name": "kinesin-like protein 10A",
                    "type": "synonym"
                },
                {
                    "name": "kinesin-like protein at 10A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Klp10A",
                    "type": "recommended"
                },
                {
                    "name": "CG1453",
                    "type": "synonym"
                },
                {
                    "name": "C",
                    "type": "synonym"
                },
                {
                    "name": "DmCG1453",
                    "type": "synonym"
                },
                {
                    "name": "DmKLP10A",
                    "type": "synonym"
                },
                {
                    "name": "DmKlp10A",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1453",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG1453",
                    "type": "synonym"
                },
                {
                    "name": "KIF 2A",
                    "type": "synonym"
                },
                {
                    "name": "KIF2A/B/C",
                    "type": "synonym"
                },
                {
                    "name": "KLP10A",
                    "type": "synonym"
                },
                {
                    "name": "KLP10a",
                    "type": "synonym"
                },
                {
                    "name": "Kif2A",
                    "type": "synonym"
                },
                {
                    "name": "Klp10A",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO03040301.142",
                    "type": "synonym"
                },
                {
                    "name": "klp10A",
                    "type": "synonym"
                },
                {
                    "name": "klp10a",
                    "type": "synonym"
                }
            ],
            "record_id": "Q960Z0-1",
            "evidence": [
                {
                    "id": "0090134",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090134"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0090134"
}