{
    "disease_id": "DOID:0090133",
    "recommended_name": {
        "id": "DOID:0090133",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0090133",
        "name": "complex cortical dysplasia with other brain malformations 2",
        "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 5C (KIF5C) gene on chromosome 2q23."
    },
    "synonyms": [
        {
            "id": "DOID:0090133",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090133",
            "name": "CDCBM2",
            "description": ""
        },
        {
            "id": "MONDO:0014116",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014116",
            "name": "complex cortical dysplasia with other brain malformations 2",
            "description": "Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the KIF5C gene."
        },
        {
            "id": "MONDO:0014116",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014116",
            "name": "CDCBM2",
            "description": ""
        },
        {
            "id": "MONDO:0014116",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014116",
            "name": "KIF5C complex cortical dysplasia with other brain malformations",
            "description": ""
        },
        {
            "id": "MONDO:0014116",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014116",
            "name": "complex cortical dysplasia with other brain malformations caused by mutation in KIF5C",
            "description": ""
        },
        {
            "id": "MONDO:0014116",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014116",
            "name": "complex cortical dysplasia with other brain malformations type 2",
            "description": ""
        },
        {
            "id": "MONDO:0014116",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014116",
            "name": "cortical dysplasia, Complex, with Other brain malformations type 2",
            "description": ""
        },
        {
            "id": "MONDO:0014116",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014116",
            "name": "cortical dysplasia, complex, with other brain malformations 2",
            "description": ""
        },
        {
            "id": "MIM:615282",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615282",
            "name": "Cortical dysplasia, complex, with other brain malformations 2",
            "description": "Cortical dysplasia, complex, with other brain malformations 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0090133"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0090133",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090133",
            "categories": []
        },
        {
            "id": "MONDO:0014116",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014116",
            "categories": []
        },
        {
            "id": "MIM:615282",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615282",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1NGN8-1",
            "uniprot_ac": "A0A8M1NGN8",
            "uniprot_id": "A0A8M1NGN8_DANRE",
            "refseq_ac": "NP_001116747",
            "glycoprotein": "no",
            "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 heavy chain",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "kif5c",
                    "type": "recommended"
                },
                {
                    "name": "kif5c",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-157c24.3",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1NGN8-1",
            "evidence": [
                {
                    "id": "0090133",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090133"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P28738-1",
            "uniprot_ac": "P28738",
            "uniprot_id": "KIF5C_MOUSE",
            "refseq_ac": "NP_032475",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Kinesin heavy chain isoform 5C",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.-",
                    "type": "synonym"
                },
                {
                    "name": "Kinesin heavy chain neuron-specific 2",
                    "type": "synonym"
                },
                {
                    "name": "Kinesin-1",
                    "type": "synonym"
                },
                {
                    "name": "kinesin heavy chain isoform 5C",
                    "type": "synonym"
                },
                {
                    "name": "kinesin heavy chain member 5C",
                    "type": "synonym"
                },
                {
                    "name": "kinesin heavy chain neuron-specific 2",
                    "type": "synonym"
                },
                {
                    "name": "kinesin-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kif5c",
                    "type": "recommended"
                },
                {
                    "name": "KINN",
                    "type": "synonym"
                },
                {
                    "name": "Khc",
                    "type": "synonym"
                },
                {
                    "name": "Kif5c",
                    "type": "synonym"
                },
                {
                    "name": "NKHC2",
                    "type": "synonym"
                },
                {
                    "name": "NKHC",
                    "type": "synonym"
                },
                {
                    "name": "Nkhc2",
                    "type": "synonym"
                }
            ],
            "record_id": "P28738-1",
            "evidence": [
                {
                    "id": "0090133",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090133"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O60282-1",
            "uniprot_ac": "O60282",
            "uniprot_id": "KIF5C_HUMAN",
            "refseq_ac": "NP_004513",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Kinesin heavy chain isoform 5C",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.-",
                    "type": "synonym"
                },
                {
                    "name": "Kinesin heavy chain neuron-specific 2",
                    "type": "synonym"
                },
                {
                    "name": "Kinesin-1",
                    "type": "synonym"
                },
                {
                    "name": "kinesin heavy chain isoform 5C",
                    "type": "synonym"
                },
                {
                    "name": "kinesin heavy chain neuron-specific 2",
                    "type": "synonym"
                },
                {
                    "name": "kinesin-1",
                    "type": "synonym"
                },
                {
                    "name": "neuron-specific kinesin heavy chain 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KIF5C",
                    "type": "recommended"
                },
                {
                    "name": "CDCBM2",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0531",
                    "type": "synonym"
                },
                {
                    "name": "KIF5C",
                    "type": "synonym"
                },
                {
                    "name": "KINN",
                    "type": "synonym"
                },
                {
                    "name": "NKHC-2",
                    "type": "synonym"
                },
                {
                    "name": "NKHC2",
                    "type": "synonym"
                },
                {
                    "name": "NKHC",
                    "type": "synonym"
                }
            ],
            "record_id": "O60282-1",
            "evidence": [
                {
                    "id": "615282",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615282"
                },
                {
                    "id": "0090133",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090133"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P56536-1",
            "uniprot_ac": "P56536",
            "uniprot_id": "KIF5C_RAT",
            "refseq_ac": "NP_001101200",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Kinesin heavy chain isoform 5C",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.-",
                    "type": "synonym"
                },
                {
                    "name": "Kinesin heavy chain neuron-specific 2",
                    "type": "synonym"
                },
                {
                    "name": "Kinesin-1",
                    "type": "synonym"
                },
                {
                    "name": "kinesin heavy chain isoform 5C",
                    "type": "synonym"
                },
                {
                    "name": "kinesin heavy chain neuron-specific 2",
                    "type": "synonym"
                },
                {
                    "name": "kinesin-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kif5c",
                    "type": "recommended"
                },
                {
                    "name": "Kif5c",
                    "type": "synonym"
                },
                {
                    "name": "Nkhc2",
                    "type": "synonym"
                }
            ],
            "record_id": "P56536-1",
            "evidence": [
                {
                    "id": "0090133",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090133"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P17210-1",
            "uniprot_ac": "P17210",
            "uniprot_id": "KINH_DROME",
            "refseq_ac": "NP_476590",
            "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 heavy chain",
                    "type": "recommended"
                },
                {
                    "name": "CG7765-PA",
                    "type": "synonym"
                },
                {
                    "name": "KHC",
                    "type": "synonym"
                },
                {
                    "name": "Khc-PA",
                    "type": "synonym"
                },
                {
                    "name": "Kin-1 heavy chain",
                    "type": "synonym"
                },
                {
                    "name": "Kinesin14",
                    "type": "synonym"
                },
                {
                    "name": "conventional kinesin",
                    "type": "synonym"
                },
                {
                    "name": "heavy chain of kinesin",
                    "type": "synonym"
                },
                {
                    "name": "kinesin -1",
                    "type": "synonym"
                },
                {
                    "name": "kinesin 1",
                    "type": "synonym"
                },
                {
                    "name": "kinesin I",
                    "type": "synonym"
                },
                {
                    "name": "kinesin alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "kinesin alpha-chain",
                    "type": "synonym"
                },
                {
                    "name": "kinesin heavy chain I",
                    "type": "synonym"
                },
                {
                    "name": "kinesin heavy chain",
                    "type": "synonym"
                },
                {
                    "name": "kinesin-1 heavy chain",
                    "type": "synonym"
                },
                {
                    "name": "partagas",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Khc",
                    "type": "recommended"
                },
                {
                    "name": "2R6",
                    "type": "synonym"
                },
                {
                    "name": "CG7765",
                    "type": "synonym"
                },
                {
                    "name": "DKH",
                    "type": "synonym"
                },
                {
                    "name": "DK",
                    "type": "synonym"
                },
                {
                    "name": "Dm KHC",
                    "type": "synonym"
                },
                {
                    "name": "DmKHC",
                    "type": "synonym"
                },
                {
                    "name": "DmK",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7765",
                    "type": "synonym"
                },
                {
                    "name": "Dmkin",
                    "type": "synonym"
                },
                {
                    "name": "KHC",
                    "type": "synonym"
                },
                {
                    "name": "KIF 5A",
                    "type": "synonym"
                },
                {
                    "name": "KIF5B",
                    "type": "synonym"
                },
                {
                    "name": "KIF5",
                    "type": "synonym"
                },
                {
                    "name": "KIN",
                    "type": "synonym"
                },
                {
                    "name": "Khc",
                    "type": "synonym"
                },
                {
                    "name": "Kif5",
                    "type": "synonym"
                },
                {
                    "name": "Kin-1",
                    "type": "synonym"
                },
                {
                    "name": "Kinesin-1",
                    "type": "synonym"
                },
                {
                    "name": "Kinesin",
                    "type": "synonym"
                },
                {
                    "name": "Kin",
                    "type": "synonym"
                },
                {
                    "name": "khc",
                    "type": "synonym"
                },
                {
                    "name": "kinesin-1",
                    "type": "synonym"
                },
                {
                    "name": "kinesin",
                    "type": "synonym"
                },
                {
                    "name": "kin",
                    "type": "synonym"
                },
                {
                    "name": "l(2)W12",
                    "type": "synonym"
                },
                {
                    "name": "l(2)k13219",
                    "type": "synonym"
                },
                {
                    "name": "l(2)k13314",
                    "type": "synonym"
                },
                {
                    "name": "l(2R)W12",
                    "type": "synonym"
                },
                {
                    "name": "pgs",
                    "type": "synonym"
                }
            ],
            "record_id": "P17210-1",
            "evidence": [
                {
                    "id": "0090133",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090133"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0090133"
}