{
    "disease_id": "DOID:0061142",
    "recommended_name": {
        "id": "DOID:0061142",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061142",
        "name": "complex cortical dysplasia with other brain malformations 11",
        "description": "A complex cortical dysplasia with other brain malformations characterized by dilated ventricles and reduced white matter and associated with axonal developmental defects that has_material_basis_in homozygous or compound heterozygous mutation in the KIF26A gene on chromosome 14q32."
    },
    "synonyms": [
        {
            "id": "DOID:0061142",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061142",
            "name": "CDCBM11",
            "description": ""
        },
        {
            "id": "MONDO:0859332",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859332",
            "name": "cortical dysplasia, complex, with other brain malformations 11",
            "description": ""
        },
        {
            "id": "MIM:620156",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620156",
            "name": "Cortical dysplasia, complex, with other brain malformations 11",
            "description": "Cortical dysplasia, complex, with other brain malformations 11"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061142"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061142",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061142",
            "categories": []
        },
        {
            "id": "MONDO:0859332",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859332",
            "categories": []
        },
        {
            "id": "MIM:620156",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620156",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M2B5X7-1",
            "uniprot_ac": "A0A8M2B5X7",
            "uniprot_id": "A0A8M2B5X7_DANRE",
            "refseq_ac": "XP_005159017",
            "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 KIF26A isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "kinesin-like protein KIF26A isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "kif26ab",
                    "type": "recommended"
                },
                {
                    "name": "kif26ab",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2B5X7-1",
            "evidence": [
                {
                    "id": "0061142",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061142"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0AB32T8Y3-1",
            "uniprot_ac": "A0AB32T8Y3",
            "uniprot_id": "A0AB32T8Y3_DANRE",
            "refseq_ac": "XP_068071748",
            "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 KIF26A isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "kinesin-like protein KIF26A isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "kif26aa",
                    "type": "recommended"
                },
                {
                    "name": "kif26aa",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB32T8Y3-1",
            "evidence": [
                {
                    "id": "0061142",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061142"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q52KG5-1",
            "uniprot_ac": "Q52KG5",
            "uniprot_id": "KI26A_MOUSE",
            "refseq_ac": "NP_001091090",
            "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 KIF26A",
                    "type": "recommended"
                },
                {
                    "name": "N-11 kinesin",
                    "type": "synonym"
                },
                {
                    "name": "kinesin-like protein KIF26A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kif26a",
                    "type": "recommended"
                },
                {
                    "name": "Kiaa1236",
                    "type": "synonym"
                },
                {
                    "name": "Kif26a",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA1236",
                    "type": "synonym"
                }
            ],
            "record_id": "Q52KG5-1",
            "evidence": [
                {
                    "id": "0061142",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061142"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9ULI4-1",
            "uniprot_ac": "Q9ULI4",
            "uniprot_id": "KI26A_HUMAN",
            "refseq_ac": "NP_056471",
            "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 KIF26A",
                    "type": "recommended"
                },
                {
                    "name": "KIF26A variant protein",
                    "type": "synonym"
                },
                {
                    "name": "kinesin-like protein KIF26A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KIF26A",
                    "type": "recommended"
                },
                {
                    "name": "CDCBM11",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1236",
                    "type": "synonym"
                },
                {
                    "name": "KIF26A",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9ULI4-1",
            "evidence": [
                {
                    "id": "620156",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620156"
                },
                {
                    "id": "0061142",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061142"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZUT0-1",
            "uniprot_ac": "D3ZUT0",
            "uniprot_id": "D3ZUT0_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 family member 26A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kif26a",
                    "type": "recommended"
                }
            ],
            "record_id": "D3ZUT0-1",
            "evidence": [
                {
                    "id": "0061142",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061142"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VLW2-1",
            "uniprot_ac": "Q9VLW2",
            "uniprot_id": "KI26L_DROME",
            "refseq_ac": "NP_001285726",
            "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 CG14535",
                    "type": "recommended"
                },
                {
                    "name": "CG14535-PB",
                    "type": "synonym"
                },
                {
                    "name": "Kinesin11",
                    "type": "synonym"
                },
                {
                    "name": "kinesin superfamily protein 26",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KIF26",
                    "type": "recommended"
                },
                {
                    "name": "B",
                    "type": "synonym"
                },
                {
                    "name": "CG14535",
                    "type": "synonym"
                },
                {
                    "name": "DmKIF26",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG14535",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG14535",
                    "type": "synonym"
                },
                {
                    "name": "KIF26A/B",
                    "type": "synonym"
                },
                {
                    "name": "KIF26",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VLW2-1",
            "evidence": [
                {
                    "id": "0061142",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061142"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061142"
}