{
    "disease_id": "DOID:0070516",
    "recommended_name": {
        "id": "DOID:0070516",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070516",
        "name": "Mitchell syndrome",
        "description": "A peroxisomal disease characterized by progressive episodic demyelination, sensorimotor polyneuropathy, and hearing loss that has_material_basis_in heterozygous mutation in the ACOX1 gene on chromosome 17q25.1."
    },
    "synonyms": [
        {
            "id": "MONDO:0030073",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030073",
            "name": "Mitchell syndrome",
            "description": "A peroxisomal disease characterized by progressive episodic demyelination, sensorimotor polyneuropathy, and hearing loss that has material basis in heterozygous mutation in the ACOX1 gene on chromosome 17q25.1."
        },
        {
            "id": "MONDO:0030073",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030073",
            "name": "ACOX1 upregulation",
            "description": ""
        },
        {
            "id": "MONDO:0030073",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030073",
            "name": "MITCH",
            "description": ""
        },
        {
            "id": "MONDO:0030073",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030073",
            "name": "Mitchell syndrome",
            "description": ""
        },
        {
            "id": "MIM:618960",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618960",
            "name": "Mitchell syndrome",
            "description": "Mitchell syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070516"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070516",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070516",
            "categories": []
        },
        {
            "id": "MONDO:0030073",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030073",
            "categories": []
        },
        {
            "id": "MIM:618960",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618960",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0ACD6B6F4-1",
            "uniprot_ac": "A0ACD6B6F4",
            "uniprot_id": "A0ACD6B6F4_DANRE",
            "refseq_ac": "XP_005166222",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Acyl-coenzyme A oxidase",
                    "type": "recommended"
                },
                {
                    "name": "peroxisomal acyl-coenzyme A oxidase 1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "acox1",
                    "type": "recommended"
                },
                {
                    "name": "acox1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb59h12",
                    "type": "synonym"
                },
                {
                    "name": "zgc:114033",
                    "type": "synonym"
                },
                {
                    "name": "zgc:92584",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ACD6B6F4-1",
            "evidence": [
                {
                    "id": "0070516",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070516"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9R0H0-1",
            "uniprot_ac": "Q9R0H0",
            "uniprot_id": "ACOX1_MOUSE",
            "refseq_ac": "NP_001258827",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peroxisomal acyl-coenzyme A oxidase 1",
                    "type": "recommended"
                },
                {
                    "name": "1.3.3.6",
                    "type": "synonym"
                },
                {
                    "name": "AOX",
                    "type": "synonym"
                },
                {
                    "name": "Palmitoyl-CoA oxidase",
                    "type": "synonym"
                },
                {
                    "name": "Peroxisomal fatty acyl-CoA oxidase",
                    "type": "synonym"
                },
                {
                    "name": "Straight-chain acyl-CoA oxidase",
                    "type": "synonym"
                },
                {
                    "name": "palmitoyl-CoA oxidase",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal acyl-coenzyme A oxidase 1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal acyl-coenzyme A oxidase 1",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal fatty acyl-CoA oxidase",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal fatty acyl-coenzyme A oxidase",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal straight-chain Acyl-CoA oxidase",
                    "type": "synonym"
                },
                {
                    "name": "straight-chain acyl-CoA oxidase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Acox1",
                    "type": "recommended"
                },
                {
                    "name": "AOX",
                    "type": "synonym"
                },
                {
                    "name": "Acox1",
                    "type": "synonym"
                },
                {
                    "name": "Acox",
                    "type": "synonym"
                },
                {
                    "name": "D130055E20Rik",
                    "type": "synonym"
                },
                {
                    "name": "Paox",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9R0H0-1",
            "evidence": [
                {
                    "id": "0070516",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070516"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9QXD1-1",
            "uniprot_ac": "Q9QXD1",
            "uniprot_id": "ACOX2_MOUSE",
            "refseq_ac": "NP_001155139",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peroxisomal acyl-coenzyme A oxidase 2",
                    "type": "recommended"
                },
                {
                    "name": "1.3.3.6",
                    "type": "synonym"
                },
                {
                    "name": "3-alpha,7-alpha, 12-alpha-trihydroxy-5-beta-cholestanoyl-CoA 24-hydroxylase",
                    "type": "synonym"
                },
                {
                    "name": "3-alpha,7-alpha, 12-alpha-trihydroxy-5-beta-cholestanoyl-CoA oxidase",
                    "type": "synonym"
                },
                {
                    "name": "3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanoyl-CoA oxidase",
                    "type": "synonym"
                },
                {
                    "name": "Branched-chain acyl-CoA oxidase 2",
                    "type": "synonym"
                },
                {
                    "name": "THCA-CoA oxidase",
                    "type": "synonym"
                },
                {
                    "name": "THCCox",
                    "type": "synonym"
                },
                {
                    "name": "Trihydroxycoprostanoyl-CoA oxidase",
                    "type": "synonym"
                },
                {
                    "name": "branched chain acyl-CoA oxidase",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal acyl-coenzyme A oxidase 2",
                    "type": "synonym"
                },
                {
                    "name": "trihydroxycoprostanoyl-CoA oxidase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Acox2",
                    "type": "recommended"
                },
                {
                    "name": "Acox2",
                    "type": "synonym"
                },
                {
                    "name": "THCCox",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9QXD1-1",
            "evidence": [
                {
                    "id": "0070516",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070516"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q15067-1",
            "uniprot_ac": "Q15067",
            "uniprot_id": "ACOX1_HUMAN",
            "refseq_ac": "NP_001171968",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peroxisomal acyl-coenzyme A oxidase 1",
                    "type": "recommended"
                },
                {
                    "name": "1.3.3.6",
                    "type": "synonym"
                },
                {
                    "name": "AOX",
                    "type": "synonym"
                },
                {
                    "name": "Palmitoyl-CoA oxidase",
                    "type": "synonym"
                },
                {
                    "name": "Peroxisomal fatty acyl-CoA oxidase",
                    "type": "synonym"
                },
                {
                    "name": "SCOX",
                    "type": "synonym"
                },
                {
                    "name": "Straight-chain acyl-CoA oxidase",
                    "type": "synonym"
                },
                {
                    "name": "acyl-CoA oxidase 1, palmitoyl",
                    "type": "synonym"
                },
                {
                    "name": "acyl-CoA oxidase, straight-chain",
                    "type": "synonym"
                },
                {
                    "name": "acyl-Coenzyme A oxidase 1, palmitoyl",
                    "type": "synonym"
                },
                {
                    "name": "palmitoyl-CoA oxidase",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal acyl-coenzyme A oxidase 1 isoform c",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal acyl-coenzyme A oxidase 1",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal fatty acyl-CoA oxidase",
                    "type": "synonym"
                },
                {
                    "name": "straight-chain acyl-CoA oxidase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ACOX1",
                    "type": "recommended"
                },
                {
                    "name": "ACOX1",
                    "type": "synonym"
                },
                {
                    "name": "ACOX",
                    "type": "synonym"
                },
                {
                    "name": "AOX",
                    "type": "synonym"
                },
                {
                    "name": "MITCH",
                    "type": "synonym"
                },
                {
                    "name": "PALMCOX",
                    "type": "synonym"
                },
                {
                    "name": "SCOX",
                    "type": "synonym"
                }
            ],
            "record_id": "Q15067-1",
            "evidence": [
                {
                    "id": "618960",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618960"
                },
                {
                    "id": "0070516",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070516"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P13711-1",
            "uniprot_ac": "P13711",
            "uniprot_id": "ACOX_YEAST",
            "refseq_ac": "NP_011310",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Acyl-coenzyme A oxidase",
                    "type": "recommended"
                },
                {
                    "name": "1.3.3.6",
                    "type": "synonym"
                },
                {
                    "name": "Acyl-CoA oxidase",
                    "type": "synonym"
                },
                {
                    "name": "acyl-CoA oxidase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "POX1",
                    "type": "recommended"
                },
                {
                    "name": "FOX1",
                    "type": "synonym"
                },
                {
                    "name": "POX1",
                    "type": "synonym"
                }
            ],
            "record_id": "P13711-1",
            "evidence": [
                {
                    "id": "0070516",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070516"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P07872-1",
            "uniprot_ac": "P07872",
            "uniprot_id": "ACOX1_RAT",
            "refseq_ac": "NP_059036",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peroxisomal acyl-coenzyme A oxidase 1",
                    "type": "recommended"
                },
                {
                    "name": "1.3.3.6",
                    "type": "synonym"
                },
                {
                    "name": "ACO",
                    "type": "synonym"
                },
                {
                    "name": "AOX",
                    "type": "synonym"
                },
                {
                    "name": "Palmitoyl-CoA oxidase",
                    "type": "synonym"
                },
                {
                    "name": "Peroxisomal fatty acyl-CoA oxidase",
                    "type": "synonym"
                },
                {
                    "name": "Straight-chain acyl-CoA oxidase",
                    "type": "synonym"
                },
                {
                    "name": "acyl-CoA oxidase 1, palmitoyl",
                    "type": "synonym"
                },
                {
                    "name": "acyl-Coenzyme A oxidase 1, palmitoyl",
                    "type": "synonym"
                },
                {
                    "name": "palmitoyl-CoA oxidase",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal acyl-coenzyme A oxidase 1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal acyl-coenzyme A oxidase 1-like",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal acyl-coenzyme A oxidase 1",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal fatty acyl-CoA oxidase",
                    "type": "synonym"
                },
                {
                    "name": "straight-chain acyl-CoA oxidase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Acox1",
                    "type": "recommended"
                },
                {
                    "name": "ACO",
                    "type": "synonym"
                },
                {
                    "name": "AOX",
                    "type": "synonym"
                },
                {
                    "name": "Acox1",
                    "type": "synonym"
                },
                {
                    "name": "Acox",
                    "type": "synonym"
                },
                {
                    "name": "RATACOA1",
                    "type": "synonym"
                },
                {
                    "name": "aCoA",
                    "type": "synonym"
                }
            ],
            "record_id": "P07872-1",
            "evidence": [
                {
                    "id": "0070516",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070516"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W2G9-1",
            "uniprot_ac": "Q9W2G9",
            "uniprot_id": "Q9W2G9_DROME",
            "refseq_ac": "NP_001286677",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Acyl-coenzyme A oxidase",
                    "type": "recommended"
                },
                {
                    "name": "Acox57D-p-PB",
                    "type": "synonym"
                },
                {
                    "name": "CG9707-PB",
                    "type": "synonym"
                },
                {
                    "name": "acyl co-enzyme A oxidase",
                    "type": "synonym"
                },
                {
                    "name": "acyl-Coenzyme A oxidase at 57D proximal, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "acyl-coA oxidase 57D-p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Acox57D-p",
                    "type": "recommended"
                },
                {
                    "name": "ACox57D-p",
                    "type": "synonym"
                },
                {
                    "name": "Acox57D-p",
                    "type": "synonym"
                },
                {
                    "name": "Acox57Dp",
                    "type": "synonym"
                },
                {
                    "name": "CG9707",
                    "type": "synonym"
                },
                {
                    "name": "D-acox",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9707",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG9707",
                    "type": "synonym"
                },
                {
                    "name": "acox",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W2G9-1",
            "evidence": [
                {
                    "id": "0070516",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070516"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W3U0-1",
            "uniprot_ac": "Q9W3U0",
            "uniprot_id": "Q9W3U0_DROME",
            "refseq_ac": "NP_572371",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Acyl-coenzyme A oxidase",
                    "type": "recommended"
                },
                {
                    "name": "CG4586-PA",
                    "type": "synonym"
                },
                {
                    "name": "acyl-coenzyme A oxidase",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG4586",
                    "type": "recommended"
                },
                {
                    "name": "CG4586",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4586",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4586",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W3U0-1",
            "evidence": [
                {
                    "id": "0070516",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070516"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7KML2-1",
            "uniprot_ac": "Q7KML2",
            "uniprot_id": "ACOX1_DROME",
            "refseq_ac": "NP_611264",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Acyl-coenzyme A oxidase 1",
                    "type": "recommended"
                },
                {
                    "name": "1.3.3.6",
                    "type": "synonym"
                },
                {
                    "name": "ACOX1-PA",
                    "type": "synonym"
                },
                {
                    "name": "CG5009-PA",
                    "type": "synonym"
                },
                {
                    "name": "acyl-CoA oxidase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Acox1",
                    "type": "recommended"
                },
                {
                    "name": "ACOX1",
                    "type": "synonym"
                },
                {
                    "name": "BcDNA:GH07485",
                    "type": "synonym"
                },
                {
                    "name": "CG5009",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5009",
                    "type": "synonym"
                },
                {
                    "name": "GH07485",
                    "type": "synonym"
                },
                {
                    "name": "dACOX1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7KML2-1",
            "evidence": [
                {
                    "id": "0070516",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070516"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W2G8-1",
            "uniprot_ac": "Q9W2G8",
            "uniprot_id": "Q9W2G8_DROME",
            "refseq_ac": "NP_523803",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Acyl-coenzyme A oxidase",
                    "type": "recommended"
                },
                {
                    "name": "Acox57D-d-PA",
                    "type": "synonym"
                },
                {
                    "name": "Acyl-coenzyme A oxidase",
                    "type": "synonym"
                },
                {
                    "name": "CG9709-PA",
                    "type": "synonym"
                },
                {
                    "name": "acyl co-enzyme A oxidase",
                    "type": "synonym"
                },
                {
                    "name": "acyl-CoA oxidase",
                    "type": "synonym"
                },
                {
                    "name": "acyl-Coenzyme A oxidase at 57D distal",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Acox57D-d",
                    "type": "recommended"
                },
                {
                    "name": "Acox57D-d",
                    "type": "synonym"
                },
                {
                    "name": "Acox57Dd",
                    "type": "synonym"
                },
                {
                    "name": "CG9709",
                    "type": "synonym"
                },
                {
                    "name": "D-acox",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9709",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG9709",
                    "type": "synonym"
                },
                {
                    "name": "acox",
                    "type": "synonym"
                },
                {
                    "name": "aco",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W2G8-1",
            "evidence": [
                {
                    "id": "0070516",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070516"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070516"
}