{
    "disease_id": "DOID:0060798",
    "recommended_name": {
        "id": "DOID:0060798",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060798",
        "name": "hypomyelinating leukodystrophy 6",
        "description": "A hypomyelinating leukodystrophy characterized by infant or early childhood onset of delayed motor development and gait instability, followed by extrapyramidal movement disorders, progressive spastic tetraplegia, ataxia, hypomyelination, cerebellar atrophy, and atrophy or disappearance of the putamen that has_material_basis_in heterozygous mutation in the TUBB4A gene on chromosome 19p13."
    },
    "synonyms": [
        {
            "id": "DOID:0060798",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060798",
            "name": "hypomyelination with atrophy of basal ganglia and cerebellum",
            "description": ""
        },
        {
            "id": "DOID:0060798",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060798",
            "name": "H-ABC",
            "description": ""
        },
        {
            "id": "DOID:0060798",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060798",
            "name": "HABC",
            "description": ""
        },
        {
            "id": "DOID:0060798",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060798",
            "name": "HLD6",
            "description": ""
        },
        {
            "id": "DOID:0060798",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060798",
            "name": "hypomyelinating leukodystrophy with atrophy of the basal ganglia and cerebellum",
            "description": ""
        },
        {
            "id": "MONDO:0012905",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012905",
            "name": "hypomyelinating leukodystrophy 6",
            "description": "A leukodystrophy characterized by slowly progressive spasticity, extrapyramidal movement disorders (dystonia, choreoathetosis and rigidity), cerebellar ataxia, moderate to severe cognitive deficit, and anarthria/dysarthria."
        },
        {
            "id": "MONDO:0012905",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012905",
            "name": "H-ABC",
            "description": ""
        },
        {
            "id": "MONDO:0012905",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012905",
            "name": "HABC",
            "description": ""
        },
        {
            "id": "MONDO:0012905",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012905",
            "name": "HLD6",
            "description": ""
        },
        {
            "id": "MONDO:0012905",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012905",
            "name": "hypomyelinating leukodystrophy type 6",
            "description": ""
        },
        {
            "id": "MONDO:0012905",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012905",
            "name": "hypomyelination with atrophy of basal ganglia and cerebellum",
            "description": ""
        },
        {
            "id": "MONDO:0012905",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012905",
            "name": "leukodystrophy, hypomyelinating, type 6",
            "description": ""
        },
        {
            "id": "MONDO:0012905",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012905",
            "name": "leukodystrophy, hypomyelinating, 6",
            "description": ""
        },
        {
            "id": "MIM:612438",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612438",
            "name": "Leukodystrophy, hypomyelinating, 6",
            "description": "Leukodystrophy, hypomyelinating, 6"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060798"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060798",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060798",
            "categories": []
        },
        {
            "id": "MONDO:0012905",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012905",
            "categories": []
        },
        {
            "id": "MIM:612438",
            "database": "MIM",
            "url": "https://www.omim.org/entry/612438",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9D6F9-1",
            "uniprot_ac": "Q9D6F9",
            "uniprot_id": "TBB4A_MOUSE",
            "refseq_ac": "NP_033477",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tubulin beta-4A chain",
                    "type": "recommended"
                },
                {
                    "name": "Tubulin beta-4 chain",
                    "type": "synonym"
                },
                {
                    "name": "tubulin beta-4 chain",
                    "type": "synonym"
                },
                {
                    "name": "tubulin beta-4A chain",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tubb4a",
                    "type": "recommended"
                },
                {
                    "name": "M(beta)4",
                    "type": "synonym"
                },
                {
                    "name": "Tubb4a",
                    "type": "synonym"
                },
                {
                    "name": "Tubb4",
                    "type": "synonym"
                },
                {
                    "name": "Tubb",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9D6F9-1",
            "evidence": [
                {
                    "id": "0060798",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060798"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P04350-1",
            "uniprot_ac": "P04350",
            "uniprot_id": "TBB4A_HUMAN",
            "refseq_ac": "NP_001276052",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tubulin beta-4A chain",
                    "type": "recommended"
                },
                {
                    "name": "Tubulin 5 beta",
                    "type": "synonym"
                },
                {
                    "name": "Tubulin beta-4 chain",
                    "type": "synonym"
                },
                {
                    "name": "dystonia 4, torsion (autosomal dominant)",
                    "type": "synonym"
                },
                {
                    "name": "tubulin beta-4 chain",
                    "type": "synonym"
                },
                {
                    "name": "tubulin beta-4A chain isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "tubulin, beta 4",
                    "type": "synonym"
                },
                {
                    "name": "tubulin, beta, 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TUBB4A",
                    "type": "recommended"
                },
                {
                    "name": "DYT4",
                    "type": "synonym"
                },
                {
                    "name": "TUBB4A",
                    "type": "synonym"
                },
                {
                    "name": "TUBB4",
                    "type": "synonym"
                },
                {
                    "name": "TUBB5",
                    "type": "synonym"
                },
                {
                    "name": "beta-5",
                    "type": "synonym"
                }
            ],
            "record_id": "P04350-1",
            "evidence": [
                {
                    "id": "612438",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/612438"
                },
                {
                    "id": "0060798",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060798"
                }
            ]
        },
        {
            "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": "0060798",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060798"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q24560-1",
            "uniprot_ac": "Q24560",
            "uniprot_id": "TBB1_DROME",
            "refseq_ac": "NP_523795",
            "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-1 chain",
                    "type": "recommended"
                },
                {
                    "name": "Beta-1-tubulin",
                    "type": "synonym"
                },
                {
                    "name": "CG9277-PB",
                    "type": "synonym"
                },
                {
                    "name": "TUBULIN B-1 CHAIN",
                    "type": "synonym"
                },
                {
                    "name": "b-tubulin56D",
                    "type": "synonym"
                },
                {
                    "name": "beta tubulin",
                    "type": "synonym"
                },
                {
                    "name": "beta-1 tubulin",
                    "type": "synonym"
                },
                {
                    "name": "beta-1-tubulin",
                    "type": "synonym"
                },
                {
                    "name": "beta-Tubulin 56D",
                    "type": "synonym"
                },
                {
                    "name": "beta-Tubulin at 56 D",
                    "type": "synonym"
                },
                {
                    "name": "beta-Tubulin at 56D, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "beta-tubulin-56D",
                    "type": "synonym"
                },
                {
                    "name": "beta1 tubulin",
                    "type": "synonym"
                },
                {
                    "name": "beta1-Tubulin",
                    "type": "synonym"
                },
                {
                    "name": "betaTub56D-PB",
                    "type": "synonym"
                },
                {
                    "name": "betatubulin",
                    "type": "synonym"
                },
                {
                    "name": "lethal (2) k00705",
                    "type": "synonym"
                },
                {
                    "name": "tubulin beta-1 chain",
                    "type": "synonym"
                },
                {
                    "name": "tubulin beta1-chain",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "betaTub56D",
                    "type": "recommended"
                },
                {
                    "name": "1t",
                    "type": "synonym"
                },
                {
                    "name": "A1ZBL0_DROME",
                    "type": "synonym"
                },
                {
                    "name": "B1t",
                    "type": "synonym"
                },
                {
                    "name": "BETA 56D",
                    "type": "synonym"
                },
                {
                    "name": "BetaTub56D",
                    "type": "synonym"
                },
                {
                    "name": "CG9277",
                    "type": "synonym"
                },
                {
                    "name": "DTB2",
                    "type": "synonym"
                },
                {
                    "name": "Dmbeta1",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9277",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG9277",
                    "type": "synonym"
                },
                {
                    "name": "TBB1_DROME",
                    "type": "synonym"
                },
                {
                    "name": "TUB56D",
                    "type": "synonym"
                },
                {
                    "name": "Tub2D",
                    "type": "synonym"
                },
                {
                    "name": "Tub56D",
                    "type": "synonym"
                },
                {
                    "name": "Tubulin",
                    "type": "synonym"
                },
                {
                    "name": "Tub",
                    "type": "synonym"
                },
                {
                    "name": "T",
                    "type": "synonym"
                },
                {
                    "name": "beta tubulin",
                    "type": "synonym"
                },
                {
                    "name": "beta-Tub56D",
                    "type": "synonym"
                },
                {
                    "name": "beta-Tub",
                    "type": "synonym"
                },
                {
                    "name": "beta-tub 56D",
                    "type": "synonym"
                },
                {
                    "name": "beta-tub56D",
                    "type": "synonym"
                },
                {
                    "name": "beta-tubulin56D",
                    "type": "synonym"
                },
                {
                    "name": "beta-tubulin",
                    "type": "synonym"
                },
                {
                    "name": "beta-tub",
                    "type": "synonym"
                },
                {
                    "name": "beta1-Tubulin",
                    "type": "synonym"
                },
                {
                    "name": "beta1-tub",
                    "type": "synonym"
                },
                {
                    "name": "beta1Tub",
                    "type": "synonym"
                },
                {
                    "name": "beta1tub",
                    "type": "synonym"
                },
                {
                    "name": "beta1t",
                    "type": "synonym"
                },
                {
                    "name": "beta1",
                    "type": "synonym"
                },
                {
                    "name": "beta56D",
                    "type": "synonym"
                },
                {
                    "name": "betaTub1",
                    "type": "synonym"
                },
                {
                    "name": "betaTub56D",
                    "type": "synonym"
                },
                {
                    "name": "betaTub56",
                    "type": "synonym"
                },
                {
                    "name": "betaTub",
                    "type": "synonym"
                },
                {
                    "name": "beta[[1]] tubulin",
                    "type": "synonym"
                },
                {
                    "name": "beta[[1]]-tubulin",
                    "type": "synonym"
                },
                {
                    "name": "betatub(56D)",
                    "type": "synonym"
                },
                {
                    "name": "betatub56D",
                    "type": "synonym"
                },
                {
                    "name": "betatubulin",
                    "type": "synonym"
                },
                {
                    "name": "beta",
                    "type": "synonym"
                },
                {
                    "name": "l(2)k00705",
                    "type": "synonym"
                },
                {
                    "name": "tub56D",
                    "type": "synonym"
                },
                {
                    "name": "tubulin",
                    "type": "synonym"
                }
            ],
            "record_id": "Q24560-1",
            "evidence": [
                {
                    "id": "0060798",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060798"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060798"
}