{
    "disease_id": "DOID:0090137",
    "recommended_name": {
        "id": "DOID:0090137",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0090137",
        "name": "complex cortical dysplasia with other brain malformations 1",
        "description": "A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 3 class III (TUBB3) gene on chromosome 16q24.3."
    },
    "synonyms": [
        {
            "id": "DOID:0090137",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090137",
            "name": "CDCBM1",
            "description": ""
        },
        {
            "id": "DOID:0090137",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090137",
            "name": "cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation",
            "description": ""
        },
        {
            "id": "MONDO:0013541",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013541",
            "name": "complex cortical dysplasia with other brain malformations 1",
            "description": "Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB3 gene."
        },
        {
            "id": "MONDO:0013541",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013541",
            "name": "CDCBM1",
            "description": ""
        },
        {
            "id": "MONDO:0013541",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013541",
            "name": "TUBB3 complex cortical dysplasia with other brain malformations",
            "description": ""
        },
        {
            "id": "MONDO:0013541",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013541",
            "name": "complex cortical dysplasia with other brain malformations caused by mutation in TUBB3",
            "description": ""
        },
        {
            "id": "MONDO:0013541",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013541",
            "name": "complex cortical dysplasia with other brain malformations type 1",
            "description": ""
        },
        {
            "id": "MONDO:0013541",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013541",
            "name": "cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation",
            "description": ""
        },
        {
            "id": "MONDO:0013541",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013541",
            "name": "cortical dysplasia, Complex, with Other brain malformations type 1",
            "description": ""
        },
        {
            "id": "MONDO:0013541",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013541",
            "name": "cortical dysplasia, complex, with other brain malformations 1",
            "description": ""
        },
        {
            "id": "MIM:614039",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614039",
            "name": "Cortical dysplasia, complex, with other brain malformations 1",
            "description": "Cortical dysplasia, complex, with other brain malformations 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0090137"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0090137",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090137",
            "categories": []
        },
        {
            "id": "MONDO:0013541",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013541",
            "categories": []
        },
        {
            "id": "MIM:614039",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614039",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9ERD7-1",
            "uniprot_ac": "Q9ERD7",
            "uniprot_id": "TBB3_MOUSE",
            "refseq_ac": "NP_075768",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tubulin beta-3 chain",
                    "type": "recommended"
                },
                {
                    "name": "betaIII-tubulin",
                    "type": "synonym"
                },
                {
                    "name": "tubulin beta-3 chain",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tubb3",
                    "type": "recommended"
                },
                {
                    "name": "3200002H15Rik",
                    "type": "synonym"
                },
                {
                    "name": "M(beta)3",
                    "type": "synonym"
                },
                {
                    "name": "M(beta)6",
                    "type": "synonym"
                },
                {
                    "name": "Tubb3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9ERD7-1",
            "evidence": [
                {
                    "id": "0090137",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090137"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q13509-1",
            "uniprot_ac": "Q13509",
            "uniprot_id": "TBB3_HUMAN",
            "refseq_ac": "NP_001184110",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tubulin beta-3 chain",
                    "type": "recommended"
                },
                {
                    "name": "Tubulin beta-4 chain",
                    "type": "synonym"
                },
                {
                    "name": "Tubulin beta-III",
                    "type": "synonym"
                },
                {
                    "name": "class III beta-tubulin",
                    "type": "synonym"
                },
                {
                    "name": "tubulin beta-3 chain isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "tubulin beta-4 chain",
                    "type": "synonym"
                },
                {
                    "name": "tubulin beta-III",
                    "type": "synonym"
                },
                {
                    "name": "tubulin, beta 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TUBB3",
                    "type": "recommended"
                },
                {
                    "name": "CDCBM1",
                    "type": "synonym"
                },
                {
                    "name": "CDCBM",
                    "type": "synonym"
                },
                {
                    "name": "CFEOM3A",
                    "type": "synonym"
                },
                {
                    "name": "CFEOM3",
                    "type": "synonym"
                },
                {
                    "name": "FEOM3",
                    "type": "synonym"
                },
                {
                    "name": "TUBB3",
                    "type": "synonym"
                },
                {
                    "name": "TUBB4",
                    "type": "synonym"
                },
                {
                    "name": "beta-4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q13509-1",
            "evidence": [
                {
                    "id": "614039",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614039"
                },
                {
                    "id": "0090137",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090137"
                }
            ]
        },
        {
            "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": "0090137",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090137"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q4QRB4-1",
            "uniprot_ac": "Q4QRB4",
            "uniprot_id": "TBB3_RAT",
            "refseq_ac": "NP_640347",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tubulin beta-3 chain",
                    "type": "recommended"
                },
                {
                    "name": "Neuron-specific class III beta-tubulin",
                    "type": "synonym"
                },
                {
                    "name": "neuron-specific class III beta-tubulin",
                    "type": "synonym"
                },
                {
                    "name": "tubulin beta-3 chain",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tubb3",
                    "type": "recommended"
                },
                {
                    "name": "Tubb3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q4QRB4-1",
            "evidence": [
                {
                    "id": "0090137",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090137"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P08841-1",
            "uniprot_ac": "P08841",
            "uniprot_id": "TBB3_DROME",
            "refseq_ac": "NP_523842",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tubulin beta-3 chain",
                    "type": "recommended"
                },
                {
                    "name": "60C beta tubulin",
                    "type": "synonym"
                },
                {
                    "name": "B3-tubulin",
                    "type": "synonym"
                },
                {
                    "name": "Beta-3-tubulin",
                    "type": "synonym"
                },
                {
                    "name": "CG3401-PA",
                    "type": "synonym"
                },
                {
                    "name": "Pin",
                    "type": "synonym"
                },
                {
                    "name": "b-3 tubulin",
                    "type": "synonym"
                },
                {
                    "name": "b3 tubulin",
                    "type": "synonym"
                },
                {
                    "name": "beta 3 tubulin",
                    "type": "synonym"
                },
                {
                    "name": "beta tubulin",
                    "type": "synonym"
                },
                {
                    "name": "beta-3 tubulin",
                    "type": "synonym"
                },
                {
                    "name": "beta-3-tubulin",
                    "type": "synonym"
                },
                {
                    "name": "beta-3tubulin",
                    "type": "synonym"
                },
                {
                    "name": "beta-Tubulin at 60A",
                    "type": "synonym"
                },
                {
                    "name": "beta-Tubulin at 60D, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "beta-tubulin 60D",
                    "type": "synonym"
                },
                {
                    "name": "beta-tubulin at 60D",
                    "type": "synonym"
                },
                {
                    "name": "beta-tubulin60D",
                    "type": "synonym"
                },
                {
                    "name": "beta3 tubulin",
                    "type": "synonym"
                },
                {
                    "name": "beta3-tubulin",
                    "type": "synonym"
                },
                {
                    "name": "beta3tubulin",
                    "type": "synonym"
                },
                {
                    "name": "betaTub60D-PA",
                    "type": "synonym"
                },
                {
                    "name": "betatubulin",
                    "type": "synonym"
                },
                {
                    "name": "tack",
                    "type": "synonym"
                },
                {
                    "name": "tubulin b-3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "betaTub60D",
                    "type": "recommended"
                },
                {
                    "name": "143391_i_at",
                    "type": "synonym"
                },
                {
                    "name": "3t",
                    "type": "synonym"
                },
                {
                    "name": "B3t",
                    "type": "synonym"
                },
                {
                    "name": "BETA 60D",
                    "type": "synonym"
                },
                {
                    "name": "CG3401",
                    "type": "synonym"
                },
                {
                    "name": "D.m.BETA-60D",
                    "type": "synonym"
                },
                {
                    "name": "DTB3",
                    "type": "synonym"
                },
                {
                    "name": "Dmbeta3",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3401",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG3401",
                    "type": "synonym"
                },
                {
                    "name": "Pin",
                    "type": "synonym"
                },
                {
                    "name": "Tac",
                    "type": "synonym"
                },
                {
                    "name": "Tub2E",
                    "type": "synonym"
                },
                {
                    "name": "Tub60D",
                    "type": "synonym"
                },
                {
                    "name": "TubB60C",
                    "type": "synonym"
                },
                {
                    "name": "Tub",
                    "type": "synonym"
                },
                {
                    "name": "T",
                    "type": "synonym"
                },
                {
                    "name": "beta-Tub60D",
                    "type": "synonym"
                },
                {
                    "name": "beta-Tub6D",
                    "type": "synonym"
                },
                {
                    "name": "beta-tub",
                    "type": "synonym"
                },
                {
                    "name": "beta3 TU",
                    "type": "synonym"
                },
                {
                    "name": "beta3-Tub",
                    "type": "synonym"
                },
                {
                    "name": "beta3-tubulin",
                    "type": "synonym"
                },
                {
                    "name": "beta3TUB",
                    "type": "synonym"
                },
                {
                    "name": "beta3Tub60D",
                    "type": "synonym"
                },
                {
                    "name": "beta3Tub",
                    "type": "synonym"
                },
                {
                    "name": "beta3tub",
                    "type": "synonym"
                },
                {
                    "name": "beta3t",
                    "type": "synonym"
                },
                {
                    "name": "beta3",
                    "type": "synonym"
                },
                {
                    "name": "beta60C",
                    "type": "synonym"
                },
                {
                    "name": "betaTub3",
                    "type": "synonym"
                },
                {
                    "name": "betaTub60C",
                    "type": "synonym"
                },
                {
                    "name": "betaTub60D",
                    "type": "synonym"
                },
                {
                    "name": "betaTub",
                    "type": "synonym"
                },
                {
                    "name": "beta[[3]] tubulin",
                    "type": "synonym"
                },
                {
                    "name": "beta[[3]]-Tub",
                    "type": "synonym"
                },
                {
                    "name": "beta[[3]]-tubulin",
                    "type": "synonym"
                },
                {
                    "name": "betatub60D",
                    "type": "synonym"
                },
                {
                    "name": "betatubulin",
                    "type": "synonym"
                },
                {
                    "name": "p50/tubulin",
                    "type": "synonym"
                },
                {
                    "name": "p50",
                    "type": "synonym"
                },
                {
                    "name": "p53/tubulin",
                    "type": "synonym"
                },
                {
                    "name": "p53",
                    "type": "synonym"
                },
                {
                    "name": "tubulin",
                    "type": "synonym"
                }
            ],
            "record_id": "P08841-1",
            "evidence": [
                {
                    "id": "0090137",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090137"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0090137"
}