{
    "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": [],
    "crossref": [
        {
            "id": "DOID:0090028",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090028",
            "categories": []
        },
        {
            "id": "MONDO:0010188",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010188",
            "categories": []
        },
        {
            "id": "MIM:277460",
            "database": "MIM",
            "url": "https://www.omim.org/entry/277460",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "B0S5J5-1",
            "uniprot_ac": "B0S5J5",
            "uniprot_id": "B0S5J5_DANRE",
            "refseq_ac": "NP_956025",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alpha-tocopherol transfer protein",
                    "type": "recommended"
                },
                {
                    "name": "alpha-tocopherol transfer protein",
                    "type": "synonym"
                },
                {
                    "name": "tocopherol (alpha) transfer protein (ataxia (Friedreich-like) with vitamin E deficiency)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ttpa",
                    "type": "recommended"
                },
                {
                    "name": "ttpa",
                    "type": "synonym"
                },
                {
                    "name": "wu:fd44e05",
                    "type": "synonym"
                },
                {
                    "name": "zgc:66361",
                    "type": "synonym"
                }
            ],
            "record_id": "B0S5J5-1",
            "evidence": [
                {
                    "id": "0090028",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090028"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BWP5-1",
            "uniprot_ac": "Q8BWP5",
            "uniprot_id": "TTPA_MOUSE",
            "refseq_ac": "NP_056582",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alpha-tocopherol transfer protein",
                    "type": "recommended"
                },
                {
                    "name": "Alpha-TTP",
                    "type": "synonym"
                },
                {
                    "name": "alpha TTP",
                    "type": "synonym"
                },
                {
                    "name": "alpha-tocopherol transfer protein isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "alpha-tocopherol transfer protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ttpa",
                    "type": "recommended"
                },
                {
                    "name": "Ttpa",
                    "type": "synonym"
                },
                {
                    "name": "alpha-TTP",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BWP5-1",
            "evidence": [
                {
                    "id": "0090028",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090028"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P49638-1",
            "uniprot_ac": "P49638",
            "uniprot_id": "TTPA_HUMAN",
            "refseq_ac": "NP_000361",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alpha-tocopherol transfer protein",
                    "type": "recommended"
                },
                {
                    "name": "Alpha-TTP",
                    "type": "synonym"
                },
                {
                    "name": "alpha-TTP",
                    "type": "synonym"
                },
                {
                    "name": "alpha-tocopherol transfer protein isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "tocopherol (alpha) transfer protein (ataxia (Friedreich-like) with vitamin E deficiency)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TTPA",
                    "type": "recommended"
                },
                {
                    "name": "ATTP",
                    "type": "synonym"
                },
                {
                    "name": "AVED",
                    "type": "synonym"
                },
                {
                    "name": "TPP1",
                    "type": "synonym"
                },
                {
                    "name": "TTP1",
                    "type": "synonym"
                },
                {
                    "name": "TTPA",
                    "type": "synonym"
                },
                {
                    "name": "alphaTTP",
                    "type": "synonym"
                }
            ],
            "record_id": "P49638-1",
            "evidence": [
                {
                    "id": "277460",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/277460"
                },
                {
                    "id": "0090028",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090028"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P41034-1",
            "uniprot_ac": "P41034",
            "uniprot_id": "TTPA_RAT",
            "refseq_ac": "NP_037180",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alpha-tocopherol transfer protein",
                    "type": "recommended"
                },
                {
                    "name": "Alpha-TTP",
                    "type": "synonym"
                },
                {
                    "name": "Tocopherol transfer protein alpha",
                    "type": "synonym"
                },
                {
                    "name": "alpha-tocopherol transfer protein isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "alpha-tocopherol transfer protein-like",
                    "type": "synonym"
                },
                {
                    "name": "tocopherol (alpha) transfer protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ttpa",
                    "type": "recommended"
                },
                {
                    "name": "TTP",
                    "type": "synonym"
                },
                {
                    "name": "Tpp1",
                    "type": "synonym"
                },
                {
                    "name": "Ttpa",
                    "type": "synonym"
                },
                {
                    "name": "alpha-TTP",
                    "type": "synonym"
                }
            ],
            "record_id": "P41034-1",
            "evidence": [
                {
                    "id": "0090028",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090028"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0090028"
}