{
    "disease_id": "DOID:0090138",
    "recommended_name": {
        "id": "DOID:0090138",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0090138",
        "name": "complex cortical dysplasia with other brain malformations 4",
        "description": "A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin gamma 1 gene on chromosome 17q21."
    },
    "synonyms": [
        {
            "id": "DOID:0090138",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090138",
            "name": "CDCBM4",
            "description": ""
        },
        {
            "id": "MONDO:0014171",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014171",
            "name": "complex cortical dysplasia with other brain malformations 4",
            "description": "Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBG1 gene."
        },
        {
            "id": "MONDO:0014171",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014171",
            "name": "CDCBM4",
            "description": ""
        },
        {
            "id": "MONDO:0014171",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014171",
            "name": "TUBG1 complex cortical dysplasia with other brain malformations",
            "description": ""
        },
        {
            "id": "MONDO:0014171",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014171",
            "name": "complex cortical dysplasia with other brain malformations caused by mutation in TUBG1",
            "description": ""
        },
        {
            "id": "MONDO:0014171",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014171",
            "name": "complex cortical dysplasia with other brain malformations type 4",
            "description": ""
        },
        {
            "id": "MONDO:0014171",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014171",
            "name": "cortical dysplasia, Complex, with Other brain malformations type 4",
            "description": ""
        },
        {
            "id": "MONDO:0014171",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014171",
            "name": "cortical dysplasia, complex, with other brain malformations 4",
            "description": ""
        },
        {
            "id": "MIM:615412",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615412",
            "name": "Cortical dysplasia, complex, with other brain malformations 4",
            "description": "Cortical dysplasia, complex, with other brain malformations 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0090138"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0090138",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090138",
            "categories": []
        },
        {
            "id": "MONDO:0014171",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014171",
            "categories": []
        },
        {
            "id": "MIM:615412",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615412",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P83887-1",
            "uniprot_ac": "P83887",
            "uniprot_id": "TBG1_MOUSE",
            "refseq_ac": "NP_598785",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tubulin gamma-1 chain",
                    "type": "recommended"
                },
                {
                    "name": "GCP-1",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-1-tubulin",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-tubulin complex component 1",
                    "type": "synonym"
                },
                {
                    "name": "gamma-tubulin complex component 1",
                    "type": "synonym"
                },
                {
                    "name": "tubulin gamma-1 chain",
                    "type": "synonym"
                },
                {
                    "name": "tubulin, gamma polypeptide",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tubg1",
                    "type": "recommended"
                },
                {
                    "name": "1500010O08Rik",
                    "type": "synonym"
                },
                {
                    "name": "GCP-1",
                    "type": "synonym"
                },
                {
                    "name": "Tubg1",
                    "type": "synonym"
                },
                {
                    "name": "Tubg",
                    "type": "synonym"
                }
            ],
            "record_id": "P83887-1",
            "evidence": [
                {
                    "id": "0090138",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090138"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8VCK3-1",
            "uniprot_ac": "Q8VCK3",
            "uniprot_id": "TBG2_MOUSE",
            "refseq_ac": "NP_598789",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tubulin gamma-2 chain",
                    "type": "recommended"
                },
                {
                    "name": "Gamma-2-tubulin",
                    "type": "synonym"
                },
                {
                    "name": "gamma-2-tubulin",
                    "type": "synonym"
                },
                {
                    "name": "tubulin gamma-2 chain",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tubg2",
                    "type": "recommended"
                },
                {
                    "name": "Tubg2",
                    "type": "synonym"
                },
                {
                    "name": "Tubgl",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8VCK3-1",
            "evidence": [
                {
                    "id": "0090138",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090138"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P23258-1",
            "uniprot_ac": "P23258",
            "uniprot_id": "TBG1_HUMAN",
            "refseq_ac": "NP_001061",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tubulin gamma-1 chain",
                    "type": "recommended"
                },
                {
                    "name": "GCP-1",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-1-tubulin",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-tubulin complex component 1",
                    "type": "synonym"
                },
                {
                    "name": "gamma-tubulin complex component 1",
                    "type": "synonym"
                },
                {
                    "name": "tubulin gamma-1 chain",
                    "type": "synonym"
                },
                {
                    "name": "tubulin, gamma polypeptide",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TUBG1",
                    "type": "recommended"
                },
                {
                    "name": "CDCBM4",
                    "type": "synonym"
                },
                {
                    "name": "GCP-1",
                    "type": "synonym"
                },
                {
                    "name": "TUBG1",
                    "type": "synonym"
                },
                {
                    "name": "TUBGCP1",
                    "type": "synonym"
                },
                {
                    "name": "TUBG",
                    "type": "synonym"
                }
            ],
            "record_id": "P23258-1",
            "evidence": [
                {
                    "id": "615412",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615412"
                },
                {
                    "id": "0090138",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090138"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53378-1",
            "uniprot_ac": "P53378",
            "uniprot_id": "TBG_YEAST",
            "refseq_ac": "NP_013313",
            "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 gamma chain",
                    "type": "recommended"
                },
                {
                    "name": "Gamma-tubulin",
                    "type": "synonym"
                },
                {
                    "name": "gamma-tubulin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TUB4",
                    "type": "recommended"
                },
                {
                    "name": "L8167.21",
                    "type": "synonym"
                },
                {
                    "name": "TUB4",
                    "type": "synonym"
                }
            ],
            "record_id": "P53378-1",
            "evidence": [
                {
                    "id": "0090138",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090138"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P83888-1",
            "uniprot_ac": "P83888",
            "uniprot_id": "TBG1_RAT",
            "refseq_ac": "NP_665721",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tubulin gamma-1 chain",
                    "type": "recommended"
                },
                {
                    "name": "GCP-1",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-1-tubulin",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-tubulin complex component 1",
                    "type": "synonym"
                },
                {
                    "name": "gamma-1-tubulin",
                    "type": "synonym"
                },
                {
                    "name": "gamma-tubulin complex component 1",
                    "type": "synonym"
                },
                {
                    "name": "tubulin gamma-1 chain",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tubg1",
                    "type": "recommended"
                },
                {
                    "name": "Tubg1",
                    "type": "synonym"
                },
                {
                    "name": "Tubg",
                    "type": "synonym"
                }
            ],
            "record_id": "P83888-1",
            "evidence": [
                {
                    "id": "0090138",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090138"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6A5N2-1",
            "uniprot_ac": "A0A8I6A5N2",
            "uniprot_id": "A0A8I6A5N2_RAT",
            "refseq_ac": "NP_001386417",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tubulin gamma chain",
                    "type": "recommended"
                },
                {
                    "name": "tubulin gamma-2 chain",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tubg2",
                    "type": "recommended"
                },
                {
                    "name": "Tubg2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6A5N2-1",
            "evidence": [
                {
                    "id": "0090138",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090138"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P23257-1",
            "uniprot_ac": "P23257",
            "uniprot_id": "TBG1_DROME",
            "refseq_ac": "NP_476804",
            "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 gamma-1 chain",
                    "type": "recommended"
                },
                {
                    "name": "23C gamma-tubulin",
                    "type": "synonym"
                },
                {
                    "name": "23C-gamma-tubulin",
                    "type": "synonym"
                },
                {
                    "name": "CG3157-PA",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-1-tubulin",
                    "type": "synonym"
                },
                {
                    "name": "gama-tubulin",
                    "type": "synonym"
                },
                {
                    "name": "gamma tubulin 23C",
                    "type": "synonym"
                },
                {
                    "name": "gamma tubulin",
                    "type": "synonym"
                },
                {
                    "name": "gamma-Tubulin at 23C",
                    "type": "synonym"
                },
                {
                    "name": "gamma-Tubulin",
                    "type": "synonym"
                },
                {
                    "name": "gamma-tubulin (23C)",
                    "type": "synonym"
                },
                {
                    "name": "gamma-tubulin 23C",
                    "type": "synonym"
                },
                {
                    "name": "gamma-tubulin(23C)",
                    "type": "synonym"
                },
                {
                    "name": "gamma-tubulin-1",
                    "type": "synonym"
                },
                {
                    "name": "gamma-tubulin23C",
                    "type": "synonym"
                },
                {
                    "name": "gammaTub23C-PA",
                    "type": "synonym"
                },
                {
                    "name": "gammatubulin",
                    "type": "synonym"
                },
                {
                    "name": "lethal (2) 23Ce",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "gammaTub23C",
                    "type": "recommended"
                },
                {
                    "name": "CG 3157",
                    "type": "synonym"
                },
                {
                    "name": "CG3157",
                    "type": "synonym"
                },
                {
                    "name": "D.m.GAMMA-23C",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3157",
                    "type": "synonym"
                },
                {
                    "name": "GAMMA23C",
                    "type": "synonym"
                },
                {
                    "name": "GTU88*",
                    "type": "synonym"
                },
                {
                    "name": "GTUB",
                    "type": "synonym"
                },
                {
                    "name": "Tub23C",
                    "type": "synonym"
                },
                {
                    "name": "Tub23",
                    "type": "synonym"
                },
                {
                    "name": "Tub3A",
                    "type": "synonym"
                },
                {
                    "name": "TubG1",
                    "type": "synonym"
                },
                {
                    "name": "TubG23C",
                    "type": "synonym"
                },
                {
                    "name": "TubG",
                    "type": "synonym"
                },
                {
                    "name": "g-Tubulin",
                    "type": "synonym"
                },
                {
                    "name": "gTub23C",
                    "type": "synonym"
                },
                {
                    "name": "gTub",
                    "type": "synonym"
                },
                {
                    "name": "gamma tubulin",
                    "type": "synonym"
                },
                {
                    "name": "gamma-Tub23C",
                    "type": "synonym"
                },
                {
                    "name": "gamma-Tub",
                    "type": "synonym"
                },
                {
                    "name": "gamma-tub 23C",
                    "type": "synonym"
                },
                {
                    "name": "gamma-tub23C",
                    "type": "synonym"
                },
                {
                    "name": "gamma-tub23",
                    "type": "synonym"
                },
                {
                    "name": "gamma-tubulin",
                    "type": "synonym"
                },
                {
                    "name": "gamma-tub",
                    "type": "synonym"
                },
                {
                    "name": "gammaTUB23C",
                    "type": "synonym"
                },
                {
                    "name": "gammaTUB",
                    "type": "synonym"
                },
                {
                    "name": "gammaTub23CD",
                    "type": "synonym"
                },
                {
                    "name": "gammaTub23C",
                    "type": "synonym"
                },
                {
                    "name": "gammaTub23c",
                    "type": "synonym"
                },
                {
                    "name": "gammaTub",
                    "type": "synonym"
                },
                {
                    "name": "gamma[zy]",
                    "type": "synonym"
                },
                {
                    "name": "gammatub23C",
                    "type": "synonym"
                },
                {
                    "name": "gammatubulin",
                    "type": "synonym"
                },
                {
                    "name": "gammatub",
                    "type": "synonym"
                },
                {
                    "name": "l(2)23Ce",
                    "type": "synonym"
                },
                {
                    "name": "tubulin",
                    "type": "synonym"
                }
            ],
            "record_id": "P23257-1",
            "evidence": [
                {
                    "id": "0090138",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090138"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P42271-1",
            "uniprot_ac": "P42271",
            "uniprot_id": "TBG2_DROME",
            "refseq_ac": "NP_001260565",
            "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 gamma-2 chain",
                    "type": "recommended"
                },
                {
                    "name": "37CD gamma-tubulin",
                    "type": "synonym"
                },
                {
                    "name": "CG17566-PB",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-2-tubulin",
                    "type": "synonym"
                },
                {
                    "name": "female sterile(2)Ted wright 1",
                    "type": "synonym"
                },
                {
                    "name": "g-tubulin37C",
                    "type": "synonym"
                },
                {
                    "name": "gama-tubulin",
                    "type": "synonym"
                },
                {
                    "name": "gamma Tubulin2",
                    "type": "synonym"
                },
                {
                    "name": "gamma tubulin at 37C",
                    "type": "synonym"
                },
                {
                    "name": "gamma tubulin",
                    "type": "synonym"
                },
                {
                    "name": "gamma-Tubulin 37C",
                    "type": "synonym"
                },
                {
                    "name": "gamma-Tubulin at 37C, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "gamma-Tubulin",
                    "type": "synonym"
                },
                {
                    "name": "gamma-tubulin (37C)",
                    "type": "synonym"
                },
                {
                    "name": "gamma-tubulin-2",
                    "type": "synonym"
                },
                {
                    "name": "gamma-tubulin37C",
                    "type": "synonym"
                },
                {
                    "name": "gammaTub37C-PB",
                    "type": "synonym"
                },
                {
                    "name": "gammatubulin",
                    "type": "synonym"
                },
                {
                    "name": "maternal gamma-tubulin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "gammaTub37C",
                    "type": "recommended"
                },
                {
                    "name": "CG17566",
                    "type": "synonym"
                },
                {
                    "name": "D.m.GAMMA-37C",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG17566",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG17566",
                    "type": "synonym"
                },
                {
                    "name": "GTU88*",
                    "type": "synonym"
                },
                {
                    "name": "PL10",
                    "type": "synonym"
                },
                {
                    "name": "Rb1011",
                    "type": "synonym"
                },
                {
                    "name": "TW1",
                    "type": "synonym"
                },
                {
                    "name": "Tub37CD",
                    "type": "synonym"
                },
                {
                    "name": "Tub37C",
                    "type": "synonym"
                },
                {
                    "name": "Tub3B",
                    "type": "synonym"
                },
                {
                    "name": "TubG2",
                    "type": "synonym"
                },
                {
                    "name": "TubG37C",
                    "type": "synonym"
                },
                {
                    "name": "fs(2)TW1",
                    "type": "synonym"
                },
                {
                    "name": "fs(2)TWI",
                    "type": "synonym"
                },
                {
                    "name": "fsTW1",
                    "type": "synonym"
                },
                {
                    "name": "g-Tubulin",
                    "type": "synonym"
                },
                {
                    "name": "gamma Tub37CD",
                    "type": "synonym"
                },
                {
                    "name": "gamma tubulin",
                    "type": "synonym"
                },
                {
                    "name": "gamma-Tub37C",
                    "type": "synonym"
                },
                {
                    "name": "gamma-Tub",
                    "type": "synonym"
                },
                {
                    "name": "gamma-tub37CD",
                    "type": "synonym"
                },
                {
                    "name": "gamma-tub37C",
                    "type": "synonym"
                },
                {
                    "name": "gamma-tubulin37C",
                    "type": "synonym"
                },
                {
                    "name": "gamma-tubulin",
                    "type": "synonym"
                },
                {
                    "name": "gamma-tub",
                    "type": "synonym"
                },
                {
                    "name": "gammaTUB37C",
                    "type": "synonym"
                },
                {
                    "name": "gammaTUB",
                    "type": "synonym"
                },
                {
                    "name": "gammaTub2",
                    "type": "synonym"
                },
                {
                    "name": "gammaTub37CD",
                    "type": "synonym"
                },
                {
                    "name": "gammaTub37C",
                    "type": "synonym"
                },
                {
                    "name": "gammaTub37c",
                    "type": "synonym"
                },
                {
                    "name": "gammaTub",
                    "type": "synonym"
                },
                {
                    "name": "gamma[mat]",
                    "type": "synonym"
                },
                {
                    "name": "gammatub37C",
                    "type": "synonym"
                },
                {
                    "name": "gammatubulin",
                    "type": "synonym"
                },
                {
                    "name": "gammatub",
                    "type": "synonym"
                }
            ],
            "record_id": "P42271-1",
            "evidence": [
                {
                    "id": "0090138",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090138"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NRH3-1",
            "uniprot_ac": "Q9NRH3",
            "uniprot_id": "TBG2_HUMAN",
            "refseq_ac": "NP_057521",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tubulin gamma-2 chain",
                    "type": "recommended"
                },
                {
                    "name": "Gamma-2-tubulin",
                    "type": "synonym"
                },
                {
                    "name": "gamma-2-tubulin",
                    "type": "synonym"
                },
                {
                    "name": "tubulin gamma 2 chain",
                    "type": "synonym"
                },
                {
                    "name": "tubulin gamma-2 chain isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TUBG2",
                    "type": "recommended"
                },
                {
                    "name": "TUBG2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NRH3-1",
            "evidence": [
                {
                    "id": "0090138",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090138"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0090138"
}