{
    "disease_id": "DOID:0060798",
    "recommended_name": {
        "id": "DOID:0060798",
        "resource": "Disease Ontology",
        "url": "http://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": "http://disease-ontology.org/term/DOID:0060798",
            "name": "hypomyelination with atrophy of basal ganglia and cerebellum",
            "description": ""
        },
        {
            "id": "DOID:0060798",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060798",
            "name": "H-ABC",
            "description": ""
        },
        {
            "id": "DOID:0060798",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060798",
            "name": "HABC",
            "description": ""
        },
        {
            "id": "DOID:0060798",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060798",
            "name": "HLD6",
            "description": ""
        },
        {
            "id": "DOID:0060798",
            "resource": "Disease Ontology",
            "url": "http://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": "hypomyelinating leukodystrophy with atrophy of the basal ganglia and cerebellum",
            "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": "MONDO:0012905",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012905",
            "name": "leukodystrophy, hypomyelinating, with atrophy of the basal ganglia and cerebellum",
            "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": []
}