{
    "disease_id": "DOID:0060995",
    "recommended_name": {
        "id": "DOID:0060995",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060995",
        "name": "autosomal dominant isolated macrothrombocytopenia 2",
        "description": "A thrombocytopenia that is characterized by the finding of low platelet numbers and abnormally large platelets with irregular shapes that has_material_basis_in heterozygous mutation in the TUBA8 gene on chromosome 22q11."
    },
    "synonyms": [
        {
            "id": "DOID:0060995",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060995",
            "name": "MACTHC2",
            "description": ""
        },
        {
            "id": "MONDO:0030827",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030827",
            "name": "macrothrombocytopenia, isolated, 2, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0030827",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030827",
            "name": "MACTHC2",
            "description": ""
        },
        {
            "id": "MONDO:0030827",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030827",
            "name": "macrothrombocytopenia, isolated, 2, autosomal dominant",
            "description": ""
        },
        {
            "id": "MIM:619840",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619840",
            "name": "Macrothrombocytopenia, isolated, 2, autosomal dominant",
            "description": "Macrothrombocytopenia, isolated, 2, autosomal dominant"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060995"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060995",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060995",
            "categories": []
        },
        {
            "id": "MONDO:0030827",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030827",
            "categories": []
        },
        {
            "id": "MIM:619840",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619840",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9JJZ2-1",
            "uniprot_ac": "Q9JJZ2",
            "uniprot_id": "TBA8_MOUSE",
            "refseq_ac": "NP_059075",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tubulin alpha-8 chain",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.-",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-tubulin 8",
                    "type": "synonym"
                },
                {
                    "name": "alpha tubulin 8",
                    "type": "synonym"
                },
                {
                    "name": "tubulin alpha-8 chain",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tuba8",
                    "type": "recommended"
                },
                {
                    "name": "Tuba8",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JJZ2-1",
            "evidence": [
                {
                    "id": "0060995",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060995"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NY65-1",
            "uniprot_ac": "Q9NY65",
            "uniprot_id": "TBA8_HUMAN",
            "refseq_ac": "NP_001180343",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tubulin alpha-8 chain",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.-",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-tubulin 8",
                    "type": "synonym"
                },
                {
                    "name": "Tubulin alpha chain-like 2",
                    "type": "synonym"
                },
                {
                    "name": "tubulin alpha 8 trucated form",
                    "type": "synonym"
                },
                {
                    "name": "tubulin alpha chain-like 2",
                    "type": "synonym"
                },
                {
                    "name": "tubulin alpha-8 chain isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TUBA8",
                    "type": "recommended"
                },
                {
                    "name": "CDCBM8",
                    "type": "synonym"
                },
                {
                    "name": "MACTHC2",
                    "type": "synonym"
                },
                {
                    "name": "TUBA8",
                    "type": "synonym"
                },
                {
                    "name": "TUBAL2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NY65-1",
            "evidence": [
                {
                    "id": "619840",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619840"
                },
                {
                    "id": "0060995",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060995"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P09733-1",
            "uniprot_ac": "P09733",
            "uniprot_id": "TBA1_YEAST",
            "refseq_ac": "NP_013625",
            "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 alpha-1 chain",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.-",
                    "type": "synonym"
                },
                {
                    "name": "alpha-tubulin TUB1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TUB1",
                    "type": "recommended"
                },
                {
                    "name": "TUB1",
                    "type": "synonym"
                }
            ],
            "record_id": "P09733-1",
            "evidence": [
                {
                    "id": "0060995",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060995"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6AY56-1",
            "uniprot_ac": "Q6AY56",
            "uniprot_id": "TBA8_RAT",
            "refseq_ac": "NP_001019510",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tubulin alpha-8 chain",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.-",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-tubulin 8",
                    "type": "synonym"
                },
                {
                    "name": "alpha-tubulin 8",
                    "type": "synonym"
                },
                {
                    "name": "tubulin alpha-8 chain",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tuba8",
                    "type": "recommended"
                },
                {
                    "name": "Tuba8",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6AY56-1",
            "evidence": [
                {
                    "id": "0060995",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060995"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P06603-1",
            "uniprot_ac": "P06603",
            "uniprot_id": "TBA1_DROME",
            "refseq_ac": "NP_476772",
            "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 alpha-1 chain",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.-",
                    "type": "synonym"
                },
                {
                    "name": "CG1913-PA",
                    "type": "synonym"
                },
                {
                    "name": "Tubulin-alpha1",
                    "type": "synonym"
                },
                {
                    "name": "alpha tubulin 84B",
                    "type": "synonym"
                },
                {
                    "name": "alpha tubulin",
                    "type": "synonym"
                },
                {
                    "name": "alpha-Tubulin 84B",
                    "type": "synonym"
                },
                {
                    "name": "alpha-Tubulin at 84B",
                    "type": "synonym"
                },
                {
                    "name": "alpha-tubulin 1",
                    "type": "synonym"
                },
                {
                    "name": "alpha-tubulin84B",
                    "type": "synonym"
                },
                {
                    "name": "alpha1 tubulin",
                    "type": "synonym"
                },
                {
                    "name": "alpha1-tubulin",
                    "type": "synonym"
                },
                {
                    "name": "alphaTub84B-PA",
                    "type": "synonym"
                },
                {
                    "name": "alphaTubulin 84B",
                    "type": "synonym"
                },
                {
                    "name": "alphaTubulin84B",
                    "type": "synonym"
                },
                {
                    "name": "alpha[[1]] tubulin",
                    "type": "synonym"
                },
                {
                    "name": "alpha[[1]]-tubulin",
                    "type": "synonym"
                },
                {
                    "name": "alphatubulin",
                    "type": "synonym"
                },
                {
                    "name": "tubulin 1 alpha-chain",
                    "type": "synonym"
                },
                {
                    "name": "tubulin 1alpha",
                    "type": "synonym"
                },
                {
                    "name": "tubulin alpha1 promoter",
                    "type": "synonym"
                },
                {
                    "name": "tubulin alpha1",
                    "type": "synonym"
                },
                {
                    "name": "tubulin(alpha1)",
                    "type": "synonym"
                },
                {
                    "name": "tubulin1alpha",
                    "type": "synonym"
                },
                {
                    "name": "tubulin84B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "alphaTub84B",
                    "type": "recommended"
                },
                {
                    "name": "1t",
                    "type": "synonym"
                },
                {
                    "name": "ALPHA 84C",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-Tubulin84B",
                    "type": "synonym"
                },
                {
                    "name": "AlphaTub84B",
                    "type": "synonym"
                },
                {
                    "name": "BEST:LD32507",
                    "type": "synonym"
                },
                {
                    "name": "CG1913",
                    "type": "synonym"
                },
                {
                    "name": "DM1alpha",
                    "type": "synonym"
                },
                {
                    "name": "DTA1",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1913",
                    "type": "synonym"
                },
                {
                    "name": "FBgn0003884",
                    "type": "synonym"
                },
                {
                    "name": "TBA1_DROME",
                    "type": "synonym"
                },
                {
                    "name": "Talpha1",
                    "type": "synonym"
                },
                {
                    "name": "Tub 84B",
                    "type": "synonym"
                },
                {
                    "name": "Tub1C",
                    "type": "synonym"
                },
                {
                    "name": "Tub84B",
                    "type": "synonym"
                },
                {
                    "name": "Tuba84B",
                    "type": "synonym"
                },
                {
                    "name": "Tubalpha1",
                    "type": "synonym"
                },
                {
                    "name": "Tubulin84B",
                    "type": "synonym"
                },
                {
                    "name": "Tub",
                    "type": "synonym"
                },
                {
                    "name": "T",
                    "type": "synonym"
                },
                {
                    "name": "a-tub84B",
                    "type": "synonym"
                },
                {
                    "name": "a1t",
                    "type": "synonym"
                },
                {
                    "name": "aTub84B",
                    "type": "synonym"
                },
                {
                    "name": "alpha-Tub84B",
                    "type": "synonym"
                },
                {
                    "name": "alpha-Tub",
                    "type": "synonym"
                },
                {
                    "name": "alpha-tub84B",
                    "type": "synonym"
                },
                {
                    "name": "alpha-tubulin 84B",
                    "type": "synonym"
                },
                {
                    "name": "alpha-tubulin",
                    "type": "synonym"
                },
                {
                    "name": "alpha-tub",
                    "type": "synonym"
                },
                {
                    "name": "alpha1-tubulin",
                    "type": "synonym"
                },
                {
                    "name": "alpha1tub84B",
                    "type": "synonym"
                },
                {
                    "name": "alpha1tub",
                    "type": "synonym"
                },
                {
                    "name": "alpha1t",
                    "type": "synonym"
                },
                {
                    "name": "alpha1",
                    "type": "synonym"
                },
                {
                    "name": "alpha84B",
                    "type": "synonym"
                },
                {
                    "name": "alphaTUB84B",
                    "type": "synonym"
                },
                {
                    "name": "alphaTUB",
                    "type": "synonym"
                },
                {
                    "name": "alphaTub1",
                    "type": "synonym"
                },
                {
                    "name": "alphaTub84B",
                    "type": "synonym"
                },
                {
                    "name": "alphaTub84",
                    "type": "synonym"
                },
                {
                    "name": "alphaTubulin",
                    "type": "synonym"
                },
                {
                    "name": "alphaTub",
                    "type": "synonym"
                },
                {
                    "name": "alphaT",
                    "type": "synonym"
                },
                {
                    "name": "alphat-1",
                    "type": "synonym"
                },
                {
                    "name": "alphatub84B",
                    "type": "synonym"
                },
                {
                    "name": "alphatub84b",
                    "type": "synonym"
                },
                {
                    "name": "alphatub",
                    "type": "synonym"
                },
                {
                    "name": "anon-EST:Liang-1.59",
                    "type": "synonym"
                },
                {
                    "name": "anon-EST:Liang-2.30",
                    "type": "synonym"
                },
                {
                    "name": "chr3R:2914276..2914416",
                    "type": "synonym"
                },
                {
                    "name": "clone 1.59",
                    "type": "synonym"
                },
                {
                    "name": "clone 2.30",
                    "type": "synonym"
                },
                {
                    "name": "l(3)84Bd",
                    "type": "synonym"
                },
                {
                    "name": "l(3)g3",
                    "type": "synonym"
                },
                {
                    "name": "ms(3)nc33",
                    "type": "synonym"
                },
                {
                    "name": "nc33",
                    "type": "synonym"
                },
                {
                    "name": "tubA84B",
                    "type": "synonym"
                },
                {
                    "name": "tubalpha1",
                    "type": "synonym"
                },
                {
                    "name": "tubulin",
                    "type": "synonym"
                },
                {
                    "name": "tub",
                    "type": "synonym"
                }
            ],
            "record_id": "P06603-1",
            "evidence": [
                {
                    "id": "0060995",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060995"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P06605-1",
            "uniprot_ac": "P06605",
            "uniprot_id": "TBA3_DROME",
            "refseq_ac": "NP_524264",
            "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 alpha-3 chain",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.-",
                    "type": "synonym"
                },
                {
                    "name": "CG2512-PA",
                    "type": "synonym"
                },
                {
                    "name": "Tubulin-alpha3",
                    "type": "synonym"
                },
                {
                    "name": "alpha tubulin",
                    "type": "synonym"
                },
                {
                    "name": "alpha-Tubulin at 84D",
                    "type": "synonym"
                },
                {
                    "name": "alpha-Tubulin",
                    "type": "synonym"
                },
                {
                    "name": "alpha-tubulin84D",
                    "type": "synonym"
                },
                {
                    "name": "alphaTub84D-PA",
                    "type": "synonym"
                },
                {
                    "name": "alphaTubulin 84D",
                    "type": "synonym"
                },
                {
                    "name": "alphatubulin",
                    "type": "synonym"
                },
                {
                    "name": "tubulin alpha-3 chain",
                    "type": "synonym"
                },
                {
                    "name": "tubulin alpha3",
                    "type": "synonym"
                },
                {
                    "name": "tubulin at 84D",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "alphaTub84D",
                    "type": "recommended"
                },
                {
                    "name": "3t",
                    "type": "synonym"
                },
                {
                    "name": "84D",
                    "type": "synonym"
                },
                {
                    "name": "ALPHA 84D",
                    "type": "synonym"
                },
                {
                    "name": "AlphaTub84D",
                    "type": "synonym"
                },
                {
                    "name": "CG2512",
                    "type": "synonym"
                },
                {
                    "name": "D.m.ALPHA-84D",
                    "type": "synonym"
                },
                {
                    "name": "DTA4",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG2512",
                    "type": "synonym"
                },
                {
                    "name": "FBgn0003884",
                    "type": "synonym"
                },
                {
                    "name": "Tub1A",
                    "type": "synonym"
                },
                {
                    "name": "TubA84D",
                    "type": "synonym"
                },
                {
                    "name": "Tub",
                    "type": "synonym"
                },
                {
                    "name": "T",
                    "type": "synonym"
                },
                {
                    "name": "aTub84D",
                    "type": "synonym"
                },
                {
                    "name": "alpha-Tub84D",
                    "type": "synonym"
                },
                {
                    "name": "alpha-Tub",
                    "type": "synonym"
                },
                {
                    "name": "alpha-tub84D",
                    "type": "synonym"
                },
                {
                    "name": "alpha-tubulin",
                    "type": "synonym"
                },
                {
                    "name": "alpha-tub",
                    "type": "synonym"
                },
                {
                    "name": "alpha3t",
                    "type": "synonym"
                },
                {
                    "name": "alpha3",
                    "type": "synonym"
                },
                {
                    "name": "alpha84D",
                    "type": "synonym"
                },
                {
                    "name": "alphaTUB84D",
                    "type": "synonym"
                },
                {
                    "name": "alphaTUB",
                    "type": "synonym"
                },
                {
                    "name": "alphaTub3",
                    "type": "synonym"
                },
                {
                    "name": "alphaTub84D",
                    "type": "synonym"
                },
                {
                    "name": "alphaTub84",
                    "type": "synonym"
                },
                {
                    "name": "alphaTub",
                    "type": "synonym"
                }
            ],
            "record_id": "P06605-1",
            "evidence": [
                {
                    "id": "0060995",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060995"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060995"
}