{
    "disease_id": "DOID:0090028",
    "recommended_name": {
        "id": "DOID:0090028",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0090028",
        "name": "familial isolated deficiency of vitamin E",
        "description": "A vitamin metabolic disorder characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and marked deficiency in vitamin E that has_material_basis_in homozygous or compound heterozygous mutation in the TTPA gene on chromosome 8q12."
    },
    "synonyms": [
        {
            "id": "DOID:0090028",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090028",
            "name": "ataxia with isolated vitamin E deficiency",
            "description": ""
        },
        {
            "id": "DOID:0090028",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090028",
            "name": "familial isolated vitamin E deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010188",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010188",
            "name": "familial isolated deficiency of vitamin E",
            "description": "Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E."
        },
        {
            "id": "MONDO:0010188",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010188",
            "name": "AVED",
            "description": ""
        },
        {
            "id": "MONDO:0010188",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010188",
            "name": "Ataxia with Vitamin E Deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010188",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010188",
            "name": "Friedreich-like ataxia",
            "description": ""
        },
        {
            "id": "MONDO:0010188",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010188",
            "name": "ataxia with isolated vitamin E deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010188",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010188",
            "name": "familial isolated deficiency of vitamin type E",
            "description": ""
        },
        {
            "id": "MONDO:0010188",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010188",
            "name": "familial isolated vitamin E deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010188",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010188",
            "name": "isolated vitamin E deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010188",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010188",
            "name": "Friedreich-like ataxia with selective vitamin E deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010188",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010188",
            "name": "VED",
            "description": ""
        },
        {
            "id": "MONDO:0010188",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010188",
            "name": "vitamin E, familial isolated deficiency OF",
            "description": ""
        },
        {
            "id": "MIM:277460",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/277460",
            "name": "Ataxia with vitamin E deficiency",
            "description": "Ataxia with vitamin E deficiency"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0090028"
    ],
    "unlinked_id_list": []
}