{
    "disease_id": "DOID:0090102",
    "recommended_name": {
        "id": "DOID:0090102",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0090102",
        "name": "autosomal dominant isolated macrothrombocytopenia 1",
        "description": "A thrombocytopenia that is characterized by macrothrombocytopenia with normal platelet aggregation and has_material_basis_in autosomal dominant inheritance of mutation in the tubulin beta-1 (TUBB1) gene on chromosome 20q13.3."
    },
    "synonyms": [
        {
            "id": "DOID:0090102",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0090102",
            "name": "MACTHC1",
            "description": ""
        },
        {
            "id": "MONDO:0800047",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800047",
            "name": "macrothrombocytopenia, isolated, 1, autosomal dominant",
            "description": "Any autosomal dominant macrothrombocytopenia in which the cause of the disease is a mutation in the TUBB1 gene."
        },
        {
            "id": "MONDO:0800047",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800047",
            "name": "MACTHC1",
            "description": ""
        },
        {
            "id": "MONDO:0800047",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800047",
            "name": "TUBB1 autosomal dominant macrothrombocytopenia",
            "description": ""
        },
        {
            "id": "MONDO:0800047",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800047",
            "name": "autosomal dominant macrothrombocytopenia caused by mutation in TUBB1",
            "description": ""
        },
        {
            "id": "MONDO:0800047",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800047",
            "name": "macrothrombocytopenia, autosomal dominant, TUBB1-related",
            "description": ""
        },
        {
            "id": "MONDO:0800047",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800047",
            "name": "autosomal dominant macrothrombocytopenia TUBB1-related",
            "description": ""
        },
        {
            "id": "MIM:613112",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613112",
            "name": "Macrothrombocytopenia, isolated, 1, autosomal dominant",
            "description": "Macrothrombocytopenia, isolated, 1, autosomal dominant"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0090102"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0090102",
            "database": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0090102",
            "categories": []
        },
        {
            "id": "MONDO:0800047",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800047",
            "categories": []
        },
        {
            "id": "MIM:613112",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613112",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8MST5-1",
            "uniprot_ac": "Q8MST5",
            "uniprot_id": "Q8MST5_DROME",
            "refseq_ac": "NP_001163753",
            "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 chain",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "CG4869-PB; betaTub97EF-PB; beta tubulin; beta4 tubulin; Beta4-tubulin; beta-Tubulin; betatubulin; beta-Tubulin 97EF",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "beta-Tubulin at 97EF, isoform B",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "betaTub97EF",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "4t; B4t; BETA 98B; beta-tub; beta-Tub; beta-Tub97EF; beta4; beta4t; beta97F; betaTub4; betaTub98BC; betaTub98C; betatubulin; CG4869; Dmbeta4; Dmel\\CG4869; DTB1; T; Tub; Tub2C",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "4t",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "B4t",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "BETA 98B",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "CG4869",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "DTB1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Dmbeta4",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4869",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4869",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Tub2C",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Tub",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "T",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "beta-Tub97EF",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "beta-Tub",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "beta-tub",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "beta4t",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "beta4",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "beta97F",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "betaTub4",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "betaTub97EF",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "betaTub98BC",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "betaTub98C",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "betatubulin",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0090102",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090102"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A2AQ07-1",
            "uniprot_ac": "A2AQ07",
            "uniprot_id": "TBB1_MOUSE",
            "refseq_ac": "NP_001074440",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tubulin beta-1 chain",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "tubulin beta-1 chain",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tubb1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "2810484G07Rik; M(beta)1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Tubb1",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0090102",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090102"
                }
            ]
        },
        {
            "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",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Beta-tubulin",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "beta-tubulin",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TUB2",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "ARM10; SHE8",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "TUB2",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0090102",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090102"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9H4B7-1",
            "uniprot_ac": "Q9H4B7",
            "uniprot_id": "TBB1_HUMAN",
            "refseq_ac": "NP_110400",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tubulin beta-1 chain",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "tubulin beta-1 chain",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "tubulin, beta 1",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TUBB1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "MACTHC1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "TUBB1",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0090102",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090102"
                },
                {
                    "id": "613112",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613112"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E7FC32-1",
            "uniprot_ac": "E7FC32",
            "uniprot_id": "E7FC32_DANRE",
            "refseq_ac": "NP_001313351",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tubulin beta chain",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "tubulin beta-1 chain",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tubb1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "si:ch211-122i22.4",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-122i22.4",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "tubb1",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0090102",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090102"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "M0R8B6-1",
            "uniprot_ac": "M0R8B6",
            "uniprot_id": "M0R8B6_RAT",
            "refseq_ac": "NP_001418658",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tubulin beta chain",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "tubulin beta-1 chain",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "tubulin, beta 1 class VI",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tubb1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "LOC679312",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Tubb1",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0090102",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090102"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0090102"
}