{
    "disease_id": "DOID:0090135",
    "recommended_name": {
        "id": "DOID:0090135",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0090135",
        "name": "complex cortical dysplasia with other brain malformations 5",
        "description": "A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 2A class IIa (TUBB2A) gene on chromosome 6p25."
    },
    "synonyms": [
        {
            "id": "DOID:0090135",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090135",
            "name": "CDCBM5",
            "description": ""
        },
        {
            "id": "MONDO:0014337",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014337",
            "name": "complex cortical dysplasia with other brain malformations 5",
            "description": "Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB2A gene."
        },
        {
            "id": "MONDO:0014337",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014337",
            "name": "CDCBM5",
            "description": ""
        },
        {
            "id": "MONDO:0014337",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014337",
            "name": "TUBB2A complex cortical dysplasia with other brain malformations",
            "description": ""
        },
        {
            "id": "MONDO:0014337",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014337",
            "name": "TUBB2A-related tubulinopathy",
            "description": ""
        },
        {
            "id": "MONDO:0014337",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014337",
            "name": "complex cortical dysplasia with other brain malformations caused by mutation in TUBB2A",
            "description": ""
        },
        {
            "id": "MONDO:0014337",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014337",
            "name": "complex cortical dysplasia with other brain malformations type 5",
            "description": ""
        },
        {
            "id": "MONDO:0014337",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014337",
            "name": "cortical dysplasia, Complex, with Other brain malformations type 5",
            "description": ""
        },
        {
            "id": "MONDO:0014337",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014337",
            "name": "cortical dysplasia, complex, with other brain malformations 5",
            "description": ""
        },
        {
            "id": "MIM:615763",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615763",
            "name": "Cortical dysplasia, complex, with other brain malformations 5",
            "description": "Cortical dysplasia, complex, with other brain malformations 5"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0090135"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0090135",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090135",
            "categories": []
        },
        {
            "id": "MONDO:0014337",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014337",
            "categories": []
        },
        {
            "id": "MIM:615763",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615763",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q7TMM9-1",
            "uniprot_ac": "Q7TMM9",
            "uniprot_id": "TBB2A_MOUSE",
            "refseq_ac": "NP_033476",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tubulin beta-2A chain",
                    "type": "recommended"
                },
                {
                    "name": "tubulin beta-2A chain",
                    "type": "synonym"
                },
                {
                    "name": "tubulin, beta polypeptide",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tubb2a",
                    "type": "recommended"
                },
                {
                    "name": "M(beta)2",
                    "type": "synonym"
                },
                {
                    "name": "Tubb2a",
                    "type": "synonym"
                },
                {
                    "name": "Tubb2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7TMM9-1",
            "evidence": [
                {
                    "id": "0090135",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090135"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q13885-1",
            "uniprot_ac": "Q13885",
            "uniprot_id": "TBB2A_HUMAN",
            "refseq_ac": "NP_001060",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tubulin beta-2A chain",
                    "type": "recommended"
                },
                {
                    "name": "Tubulin beta class IIa",
                    "type": "synonym"
                },
                {
                    "name": "class IIa beta-tubulin",
                    "type": "synonym"
                },
                {
                    "name": "tubulin beta-2A chain isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "tubulin beta-2A chain",
                    "type": "synonym"
                },
                {
                    "name": "tubulin, beta 2A",
                    "type": "synonym"
                },
                {
                    "name": "tubulin, beta polypeptide 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TUBB2A",
                    "type": "recommended"
                },
                {
                    "name": "CDCBM5",
                    "type": "synonym"
                },
                {
                    "name": "TUBB2A",
                    "type": "synonym"
                },
                {
                    "name": "TUBB2",
                    "type": "synonym"
                },
                {
                    "name": "TUBB",
                    "type": "synonym"
                }
            ],
            "record_id": "Q13885-1",
            "evidence": [
                {
                    "id": "615763",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615763"
                },
                {
                    "id": "0090135",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090135"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P02557-1",
            "uniprot_ac": "P02557",
            "uniprot_id": "TBB_YEAST",
            "refseq_ac": "NP_116616",
            "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": "Tubulin beta chain",
                    "type": "recommended"
                },
                {
                    "name": "Beta-tubulin",
                    "type": "synonym"
                },
                {
                    "name": "beta-tubulin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TUB2",
                    "type": "recommended"
                },
                {
                    "name": "ARM10",
                    "type": "synonym"
                },
                {
                    "name": "SHE8",
                    "type": "synonym"
                },
                {
                    "name": "TUB2",
                    "type": "synonym"
                }
            ],
            "record_id": "P02557-1",
            "evidence": [
                {
                    "id": "0090135",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090135"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P85108-1",
            "uniprot_ac": "P85108",
            "uniprot_id": "TBB2A_RAT",
            "refseq_ac": "NP_001102589",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tubulin beta-2A chain",
                    "type": "recommended"
                },
                {
                    "name": "T beta-15",
                    "type": "synonym"
                },
                {
                    "name": "Tubulin beta-2B chain",
                    "type": "synonym"
                },
                {
                    "name": "tubulin beta-2A chain pseudogene",
                    "type": "synonym"
                },
                {
                    "name": "tubulin beta-2A chain",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tubb2a",
                    "type": "recommended"
                },
                {
                    "name": "Tubb2b",
                    "type": "recommended"
                },
                {
                    "name": "Tubb2a",
                    "type": "synonym"
                },
                {
                    "name": "Tubb2b",
                    "type": "synonym"
                }
            ],
            "record_id": "P85108-1",
            "evidence": [
                {
                    "id": "0090135",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090135"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q24560-1",
            "uniprot_ac": "Q24560",
            "uniprot_id": "TBB1_DROME",
            "refseq_ac": "NP_523795",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tubulin beta-1 chain",
                    "type": "recommended"
                },
                {
                    "name": "Beta-1-tubulin",
                    "type": "synonym"
                },
                {
                    "name": "CG9277-PB",
                    "type": "synonym"
                },
                {
                    "name": "TUBULIN B-1 CHAIN",
                    "type": "synonym"
                },
                {
                    "name": "b-tubulin56D",
                    "type": "synonym"
                },
                {
                    "name": "beta tubulin",
                    "type": "synonym"
                },
                {
                    "name": "beta-1 tubulin",
                    "type": "synonym"
                },
                {
                    "name": "beta-1-tubulin",
                    "type": "synonym"
                },
                {
                    "name": "beta-Tubulin 56D",
                    "type": "synonym"
                },
                {
                    "name": "beta-Tubulin at 56 D",
                    "type": "synonym"
                },
                {
                    "name": "beta-Tubulin at 56D, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "beta-tubulin-56D",
                    "type": "synonym"
                },
                {
                    "name": "beta1 tubulin",
                    "type": "synonym"
                },
                {
                    "name": "beta1-Tubulin",
                    "type": "synonym"
                },
                {
                    "name": "betaTub56D-PB",
                    "type": "synonym"
                },
                {
                    "name": "betatubulin",
                    "type": "synonym"
                },
                {
                    "name": "lethal (2) k00705",
                    "type": "synonym"
                },
                {
                    "name": "tubulin beta-1 chain",
                    "type": "synonym"
                },
                {
                    "name": "tubulin beta1-chain",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "betaTub56D",
                    "type": "recommended"
                },
                {
                    "name": "1t",
                    "type": "synonym"
                },
                {
                    "name": "A1ZBL0_DROME",
                    "type": "synonym"
                },
                {
                    "name": "B1t",
                    "type": "synonym"
                },
                {
                    "name": "BETA 56D",
                    "type": "synonym"
                },
                {
                    "name": "BetaTub56D",
                    "type": "synonym"
                },
                {
                    "name": "CG9277",
                    "type": "synonym"
                },
                {
                    "name": "DTB2",
                    "type": "synonym"
                },
                {
                    "name": "Dmbeta1",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9277",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG9277",
                    "type": "synonym"
                },
                {
                    "name": "TBB1_DROME",
                    "type": "synonym"
                },
                {
                    "name": "TUB56D",
                    "type": "synonym"
                },
                {
                    "name": "Tub2D",
                    "type": "synonym"
                },
                {
                    "name": "Tub56D",
                    "type": "synonym"
                },
                {
                    "name": "Tubulin",
                    "type": "synonym"
                },
                {
                    "name": "Tub",
                    "type": "synonym"
                },
                {
                    "name": "T",
                    "type": "synonym"
                },
                {
                    "name": "beta tubulin",
                    "type": "synonym"
                },
                {
                    "name": "beta-Tub56D",
                    "type": "synonym"
                },
                {
                    "name": "beta-Tub",
                    "type": "synonym"
                },
                {
                    "name": "beta-tub 56D",
                    "type": "synonym"
                },
                {
                    "name": "beta-tub56D",
                    "type": "synonym"
                },
                {
                    "name": "beta-tubulin56D",
                    "type": "synonym"
                },
                {
                    "name": "beta-tubulin",
                    "type": "synonym"
                },
                {
                    "name": "beta-tub",
                    "type": "synonym"
                },
                {
                    "name": "beta1-Tubulin",
                    "type": "synonym"
                },
                {
                    "name": "beta1-tub",
                    "type": "synonym"
                },
                {
                    "name": "beta1Tub",
                    "type": "synonym"
                },
                {
                    "name": "beta1tub",
                    "type": "synonym"
                },
                {
                    "name": "beta1t",
                    "type": "synonym"
                },
                {
                    "name": "beta1",
                    "type": "synonym"
                },
                {
                    "name": "beta56D",
                    "type": "synonym"
                },
                {
                    "name": "betaTub1",
                    "type": "synonym"
                },
                {
                    "name": "betaTub56D",
                    "type": "synonym"
                },
                {
                    "name": "betaTub56",
                    "type": "synonym"
                },
                {
                    "name": "betaTub",
                    "type": "synonym"
                },
                {
                    "name": "beta[[1]] tubulin",
                    "type": "synonym"
                },
                {
                    "name": "beta[[1]]-tubulin",
                    "type": "synonym"
                },
                {
                    "name": "betatub(56D)",
                    "type": "synonym"
                },
                {
                    "name": "betatub56D",
                    "type": "synonym"
                },
                {
                    "name": "betatubulin",
                    "type": "synonym"
                },
                {
                    "name": "beta",
                    "type": "synonym"
                },
                {
                    "name": "l(2)k00705",
                    "type": "synonym"
                },
                {
                    "name": "tub56D",
                    "type": "synonym"
                },
                {
                    "name": "tubulin",
                    "type": "synonym"
                }
            ],
            "record_id": "Q24560-1",
            "evidence": [
                {
                    "id": "0090135",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090135"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P61857-1",
            "uniprot_ac": "P61857",
            "uniprot_id": "TBB2_DROME",
            "refseq_ac": "NP_524290",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tubulin beta-2 chain",
                    "type": "recommended"
                },
                {
                    "name": "Beta-2-tubulin",
                    "type": "synonym"
                },
                {
                    "name": "CG9359-PA",
                    "type": "synonym"
                },
                {
                    "name": "b2 tubulin",
                    "type": "synonym"
                },
                {
                    "name": "beta 2 tubulin",
                    "type": "synonym"
                },
                {
                    "name": "beta tubulin",
                    "type": "synonym"
                },
                {
                    "name": "beta(2)Tubulin",
                    "type": "synonym"
                },
                {
                    "name": "beta-Tubulin 85D",
                    "type": "synonym"
                },
                {
                    "name": "beta-Tubulin at 85D",
                    "type": "synonym"
                },
                {
                    "name": "beta-tubulin85D",
                    "type": "synonym"
                },
                {
                    "name": "beta2 tubulin",
                    "type": "synonym"
                },
                {
                    "name": "beta2-tubulin",
                    "type": "synonym"
                },
                {
                    "name": "beta2tubulin",
                    "type": "synonym"
                },
                {
                    "name": "betaTub85D-PA",
                    "type": "synonym"
                },
                {
                    "name": "betaTubulin85D",
                    "type": "synonym"
                },
                {
                    "name": "testis-specific beta-tubulin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "betaTub85D",
                    "type": "recommended"
                },
                {
                    "name": "2t",
                    "type": "synonym"
                },
                {
                    "name": "B2t",
                    "type": "synonym"
                },
                {
                    "name": "BETA 85D",
                    "type": "synonym"
                },
                {
                    "name": "BETA2",
                    "type": "synonym"
                },
                {
                    "name": "BetaTub85D",
                    "type": "synonym"
                },
                {
                    "name": "Betatub85D",
                    "type": "synonym"
                },
                {
                    "name": "CG9359",
                    "type": "synonym"
                },
                {
                    "name": "D.m.BETA-85D",
                    "type": "synonym"
                },
                {
                    "name": "DTB4",
                    "type": "synonym"
                },
                {
                    "name": "Dmbeta2",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9359",
                    "type": "synonym"
                },
                {
                    "name": "FBgn0003889",
                    "type": "synonym"
                },
                {
                    "name": "TUBB2A",
                    "type": "synonym"
                },
                {
                    "name": "Tub2A",
                    "type": "synonym"
                },
                {
                    "name": "Tub85D",
                    "type": "synonym"
                },
                {
                    "name": "TubB85D",
                    "type": "synonym"
                },
                {
                    "name": "Tub",
                    "type": "synonym"
                },
                {
                    "name": "beta(2)Tub",
                    "type": "synonym"
                },
                {
                    "name": "beta(2)Tu",
                    "type": "synonym"
                },
                {
                    "name": "beta-Tub85D",
                    "type": "synonym"
                },
                {
                    "name": "beta-tub85D",
                    "type": "synonym"
                },
                {
                    "name": "beta-tub",
                    "type": "synonym"
                },
                {
                    "name": "beta2-tub",
                    "type": "synonym"
                },
                {
                    "name": "beta2tub",
                    "type": "synonym"
                },
                {
                    "name": "beta2t",
                    "type": "synonym"
                },
                {
                    "name": "beta2",
                    "type": "synonym"
                },
                {
                    "name": "beta85D",
                    "type": "synonym"
                },
                {
                    "name": "betaTub2",
                    "type": "synonym"
                },
                {
                    "name": "betaTub85D",
                    "type": "synonym"
                },
                {
                    "name": "betaTub",
                    "type": "synonym"
                },
                {
                    "name": "beta[[2]]-tubulin",
                    "type": "synonym"
                },
                {
                    "name": "betatub85D",
                    "type": "synonym"
                },
                {
                    "name": "betatubulin",
                    "type": "synonym"
                },
                {
                    "name": "beta",
                    "type": "synonym"
                },
                {
                    "name": "ms(3)KK[D]",
                    "type": "synonym"
                }
            ],
            "record_id": "P61857-1",
            "evidence": [
                {
                    "id": "0090135",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090135"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0090135"
}