{
    "disease_id": "DOID:0081427",
    "recommended_name": {
        "id": "DOID:0081427",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081427",
        "name": "autosomal recessive distal hereditary motor neuronopathy 8",
        "description": "An autosomal recessive distal hereditary motor neuronopathy characterized by onset of distal muscle weakness mainly affecting the lower limbs and resulting in difficulty walking and that has_material_basis_in homozygous or compound heterozygous mutation in the SORD gene on chromosome 15q21."
    },
    "synonyms": [
        {
            "id": "DOID:0081427",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081427",
            "name": "sorbitol dehydrogenase deficiency with peripheral neuropathy",
            "description": ""
        },
        {
            "id": "DOID:0081427",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081427",
            "name": "SORDD",
            "description": ""
        },
        {
            "id": "MONDO:0030055",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030055",
            "name": "neuronopathy, distal hereditary motor, autosomal recessive 8",
            "description": ""
        },
        {
            "id": "MONDO:0030055",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030055",
            "name": "SORDD",
            "description": ""
        },
        {
            "id": "MONDO:0030055",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030055",
            "name": "sorbitol dehydrogenase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0030055",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030055",
            "name": "sorbitol dehydrogenase deficiency with peripheral neuropathy",
            "description": ""
        },
        {
            "id": "MIM:618912",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618912",
            "name": "Neuronopathy, distal hereditary motor, autosomal recessive 8",
            "description": "Neuronopathy, distal hereditary motor, autosomal recessive 8"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081427"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081427",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081427",
            "categories": []
        },
        {
            "id": "MONDO:0030055",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030055",
            "categories": []
        },
        {
            "id": "MIM:618912",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618912",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1Q713-1",
            "uniprot_ac": "F1Q713",
            "uniprot_id": "F1Q713_DANRE",
            "refseq_ac": "NP_001165890",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sorbitol dehydrogenase",
                    "type": "recommended"
                },
                {
                    "name": "Polyol dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "sorbitol dehydrogenase",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "sord",
                    "type": "recommended"
                },
                {
                    "name": "sord",
                    "type": "synonym"
                },
                {
                    "name": "zgc:63674",
                    "type": "synonym"
                }
            ],
            "record_id": "F1Q713-1",
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                    "id": "0081427",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0081427"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q64442-1",
            "uniprot_ac": "Q64442",
            "uniprot_id": "DHSO_MOUSE",
            "refseq_ac": "NP_666238",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sorbitol dehydrogenase",
                    "type": "recommended"
                },
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                    "name": "1.1.1.-",
                    "type": "synonym"
                },
                {
                    "name": "1.1.1.14",
                    "type": "synonym"
                },
                {
                    "name": "1.1.1.9",
                    "type": "synonym"
                },
                {
                    "name": "L-iditol 2-dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "Polyol dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "SDH",
                    "type": "synonym"
                },
                {
                    "name": "SORD",
                    "type": "synonym"
                },
                {
                    "name": "XDH",
                    "type": "synonym"
                },
                {
                    "name": "Xylitol dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "polyol dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "sorbitol dehydrogenase 1",
                    "type": "synonym"
                },
                {
                    "name": "sorbitol dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "xylitol dehydrogenase",
                    "type": "synonym"
                }
            ],
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                    "name": "Sord",
                    "type": "recommended"
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                    "name": "SDH",
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                },
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                    "name": "Sdh-1",
                    "type": "synonym"
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                {
                    "name": "Sdh1",
                    "type": "synonym"
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                    "name": "Sodh-1",
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                    "name": "Sord",
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                },
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            ],
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                    "id": "0081427",
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            ]
        },
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            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sorbitol dehydrogenase",
                    "type": "recommended"
                },
                {
                    "name": "(R,R)-butanediol dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "1.1.1.-",
                    "type": "synonym"
                },
                {
                    "name": "1.1.1.14",
                    "type": "synonym"
                },
                {
                    "name": "1.1.1.4",
                    "type": "synonym"
                },
                {
                    "name": "1.1.1.56",
                    "type": "synonym"
                },
                {
                    "name": "1.1.1.9",
                    "type": "synonym"
                },
                {
                    "name": "L-iditol 2-dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "Polyol dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "RDH",
                    "type": "synonym"
                },
                {
                    "name": "Ribitol dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "SDH",
                    "type": "synonym"
                },
                {
                    "name": "XDH",
                    "type": "synonym"
                },
                {
                    "name": "Xylitol dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein Li 95n",
                    "type": "synonym"
                },
                {
                    "name": "polyol dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "ribitol dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "sorbitol dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "xylitol dehydrogenase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SORD",
                    "type": "recommended"
                },
                {
                    "name": "HEL-S-95n",
                    "type": "synonym"
                },
                {
                    "name": "HMNR8",
                    "type": "synonym"
                },
                {
                    "name": "RDH",
                    "type": "synonym"
                },
                {
                    "name": "SDH",
                    "type": "synonym"
                },
                {
                    "name": "SORD1",
                    "type": "synonym"
                },
                {
                    "name": "SORDD",
                    "type": "synonym"
                },
                {
                    "name": "SORD",
                    "type": "synonym"
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                    "name": "XDH",
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                }
            ],
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                    "id": "0081427",
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                }
            ]
        },
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            "uniprot_canonical_ac": "P35497-1",
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            "glycoprotein": "yes",
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                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
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                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
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                {
                    "name": "Sorbitol dehydrogenase 1",
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                },
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                    "type": "synonym"
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                    "name": "L-iditol 2-dehydrogenase SOR1",
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                    "name": "Polyol dehydrogenase",
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                    "name": "Xylitol dehydrogenase",
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            ],
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                    "name": "SOR1",
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                    "name": "J2395",
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                    "id": "0081427",
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            ],
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                    "name": "Sorbitol dehydrogenase 2",
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                    "id": "0081427",
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                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
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                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                    "name": "Sorbitol dehydrogenase",
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                    "name": "L-iditol 2-dehydrogenase",
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                    "id": "0081427",
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                {
                    "name": "Drosophila melanogaster",
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            ],
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                    "name": "Sorbitol dehydrogenase",
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                    "name": "Sodh1-PB",
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                    "name": "sorbitol dehydrogenase 1, isoform B",
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                    "name": "sorbitol dehydrogenase",
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                    "id": "0081427",
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                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081427"
}