{
    "disease_id": "DOID:0060355",
    "recommended_name": {
        "id": "DOID:0060355",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060355",
        "name": "amyotrophic lateral sclerosis type 22",
        "description": "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the TUBA4A gene on chromosome 2q35."
    },
    "synonyms": [
        {
            "id": "DOID:0060355",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060355",
            "name": "amyotrophic lateral sclerosis 22",
            "description": ""
        },
        {
            "id": "DOID:0060355",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060355",
            "name": "amyotrohpic lateral sclerosis 22 with or without frontotemporal dementia",
            "description": ""
        },
        {
            "id": "DOID:0060355",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060355",
            "name": "ALS22",
            "description": ""
        },
        {
            "id": "MONDO:0014531",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014531",
            "name": "amyotrophic lateral sclerosis type 22",
            "description": "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the TUBA4A gene."
        },
        {
            "id": "MONDO:0014531",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014531",
            "name": "ALS 22",
            "description": ""
        },
        {
            "id": "MONDO:0014531",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014531",
            "name": "TUBA4A amyotrophic lateral sclerosis",
            "description": ""
        },
        {
            "id": "MONDO:0014531",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014531",
            "name": "amyotrophic lateral sclerosis 22 with or without frontotemporal dementia",
            "description": ""
        },
        {
            "id": "MONDO:0014531",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014531",
            "name": "amyotrophic lateral sclerosis caused by mutation in TUBA4A",
            "description": ""
        },
        {
            "id": "MONDO:0014531",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014531",
            "name": "amyotrophic lateral sclerosis type 22",
            "description": ""
        },
        {
            "id": "MONDO:0014531",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014531",
            "name": "ALS22",
            "description": ""
        },
        {
            "id": "MIM:616208",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616208",
            "name": "Frontotemporal dementia and/or amyotrophic lateral sclerosis 9",
            "description": "Frontotemporal dementia and/or amyotrophic lateral sclerosis 9"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060355"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060355",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060355",
            "categories": []
        },
        {
            "id": "MONDO:0014531",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014531",
            "categories": []
        },
        {
            "id": "MIM:616208",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616208",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P68368-1",
            "uniprot_ac": "P68368",
            "uniprot_id": "TBA4A_MOUSE",
            "refseq_ac": "NP_033473",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tubulin alpha-4A chain",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.-",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-tubulin 4",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-tubulin isotype M-alpha-4",
                    "type": "synonym"
                },
                {
                    "name": "Tubulin alpha-4 chain",
                    "type": "synonym"
                },
                {
                    "name": "alpha-tubulin isotype M-alpha-4",
                    "type": "synonym"
                },
                {
                    "name": "tubulin alpha-4 chain",
                    "type": "synonym"
                },
                {
                    "name": "tubulin alpha-4A chain isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "tubulin alpha-4A chain",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tuba4a",
                    "type": "recommended"
                },
                {
                    "name": "M[a]4",
                    "type": "synonym"
                },
                {
                    "name": "Tuba4a",
                    "type": "synonym"
                },
                {
                    "name": "Tuba4",
                    "type": "synonym"
                }
            ],
            "record_id": "P68368-1",
            "evidence": [
                {
                    "id": "0060355",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060355"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P68366-1",
            "uniprot_ac": "P68366",
            "uniprot_id": "TBA4A_HUMAN",
            "refseq_ac": "NP_001265481",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tubulin alpha-4A chain",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.-",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-tubulin 1",
                    "type": "synonym"
                },
                {
                    "name": "Testis-specific alpha-tubulin",
                    "type": "synonym"
                },
                {
                    "name": "Tubulin H2-alpha",
                    "type": "synonym"
                },
                {
                    "name": "Tubulin alpha-1 chain",
                    "type": "synonym"
                },
                {
                    "name": "tubulin H2-alpha",
                    "type": "synonym"
                },
                {
                    "name": "tubulin alpha-1 chain",
                    "type": "synonym"
                },
                {
                    "name": "tubulin alpha-4A chain isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "tubulin, alpha 1 (testis specific)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TUBA4A",
                    "type": "recommended"
                },
                {
                    "name": "ALS22",
                    "type": "synonym"
                },
                {
                    "name": "CMYO26",
                    "type": "synonym"
                },
                {
                    "name": "FTDALS9",
                    "type": "synonym"
                },
                {
                    "name": "H2-ALPHA",
                    "type": "synonym"
                },
                {
                    "name": "OZEMA23",
                    "type": "synonym"
                },
                {
                    "name": "SPAX11",
                    "type": "synonym"
                },
                {
                    "name": "TUBA1",
                    "type": "synonym"
                },
                {
                    "name": "TUBA4A",
                    "type": "synonym"
                }
            ],
            "record_id": "P68366-1",
            "evidence": [
                {
                    "id": "616208",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616208"
                },
                {
                    "id": "0060355",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060355"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P09734-1",
            "uniprot_ac": "P09734",
            "uniprot_id": "TBA3_YEAST",
            "refseq_ac": "NP_013582",
            "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-3 chain",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.-",
                    "type": "synonym"
                },
                {
                    "name": "alpha-tubulin TUB3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TUB3",
                    "type": "recommended"
                },
                {
                    "name": "TUB3",
                    "type": "synonym"
                },
                {
                    "name": "YM7056.02C",
                    "type": "synonym"
                }
            ],
            "record_id": "P09734-1",
            "evidence": [
                {
                    "id": "0060355",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060355"
                }
            ]
        },
        {
            "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": "0060355",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060355"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5XIF6-1",
            "uniprot_ac": "Q5XIF6",
            "uniprot_id": "TBA4A_RAT",
            "refseq_ac": "NP_001007005",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tubulin alpha-4A chain",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.-",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-tubulin 4",
                    "type": "synonym"
                },
                {
                    "name": "Tubulin alpha-4 chain",
                    "type": "synonym"
                },
                {
                    "name": "alpha-tubulin 4",
                    "type": "synonym"
                },
                {
                    "name": "tubulin alpha-4 chain",
                    "type": "synonym"
                },
                {
                    "name": "tubulin alpha-4A chain isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "tubulin alpha-4A chain",
                    "type": "synonym"
                },
                {
                    "name": "tubulin, alpha 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tuba4a",
                    "type": "recommended"
                },
                {
                    "name": "Tuba4a",
                    "type": "synonym"
                },
                {
                    "name": "Tuba4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5XIF6-1",
            "evidence": [
                {
                    "id": "0060355",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060355"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060355"
}