{
    "disease_id": "DOID:0061257",
    "recommended_name": {
        "id": "DOID:0061257",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061257",
        "name": "congenital myopathy 26",
        "description": "A congenital myopathy characterized by limb muscle weakness and mild motor delay apparent from infancy that has_material_basis_in heterozygous mutation in the TUBA4A gene on chromosome 2q35."
    },
    "synonyms": [
        {
            "id": "MONDO:0979229",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0979229",
            "name": "congenital myopathy 26",
            "description": ""
        },
        {
            "id": "MIM:621225",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/621225",
            "name": "Congenital myopathy 26",
            "description": "Congenital myopathy 26"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061257"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061257",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061257",
            "categories": []
        },
        {
            "id": "MONDO:0979229",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0979229",
            "categories": []
        },
        {
            "id": "MIM:621225",
            "database": "MIM",
            "url": "https://www.omim.org/entry/621225",
            "categories": []
        }
    ],
    "proteins": [
        {
            "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": "621225",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/621225"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061257"
}