{
    "disease_id": "DOID:0110782",
    "recommended_name": {
        "id": "DOID:0110782",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110782",
        "name": "hereditary spastic paraplegia 31",
        "description": "A hereditary spastic paraplegia that has_material_basis_in mutation in the REEP1 gene on chromosome 2p11."
    },
    "synonyms": [
        {
            "id": "DOID:0110782",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110782",
            "name": "SPG31",
            "description": ""
        },
        {
            "id": "DOID:0110782",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110782",
            "name": "autosomal dominant spastic paraplegia 31",
            "description": ""
        },
        {
            "id": "DOID:0110782",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110782",
            "name": "autosomal dominant spastic paraplegia type 31",
            "description": ""
        },
        {
            "id": "MONDO:0012453",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012453",
            "name": "hereditary spastic paraplegia 31",
            "description": "A rare type of hereditary spastic paraplegia usually characterized by a pure phenotype of proximal weakness of the lower extremities with spastic gait and brisk reflexes, with a bimodal age of onset of either childhood or adulthood (>30 years). In some cases, it can present as a complex phenotype with additional associated manifestations including peripheral neuropathy, bulbar palsy (with dysarthria and dysphagia), distal amyotrophy, and impaired distal vibration sense."
        },
        {
            "id": "MONDO:0012453",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012453",
            "name": "REEP1 hereditary spastic paraplegia",
            "description": ""
        },
        {
            "id": "MONDO:0012453",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012453",
            "name": "SPG31",
            "description": ""
        },
        {
            "id": "MONDO:0012453",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012453",
            "name": "autosomal dominant spastic paraplegia type 31",
            "description": ""
        },
        {
            "id": "MONDO:0012453",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012453",
            "name": "hereditary spastic paraplegia caused by mutation in REEP1",
            "description": ""
        },
        {
            "id": "MONDO:0012453",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012453",
            "name": "hereditary spastic paraplegia type 31",
            "description": ""
        },
        {
            "id": "MONDO:0012453",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012453",
            "name": "spastic paraplegia 31",
            "description": ""
        },
        {
            "id": "MONDO:0012453",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012453",
            "name": "spastic paraplegia 31, autosomal dominant",
            "description": ""
        },
        {
            "id": "MIM:610250",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610250",
            "name": "Spastic paraplegia 31, autosomal dominant",
            "description": "Spastic paraplegia 31, autosomal dominant"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110782"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110782",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110782",
            "categories": []
        },
        {
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            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012453",
            "categories": []
        },
        {
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            "database": "MIM",
            "url": "https://www.omim.org/entry/610250",
            "categories": []
        }
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                }
            ],
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                }
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                }
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                {
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                    "taxid": 559292,
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                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
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                {
                    "name": "Protein YOP1",
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                {
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                },
                {
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                {
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                }
            ],
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                    "name": "YP9367.08",
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                }
            ],
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                    "id": "0110782",
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                }
            ]
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                }
            ],
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                    "id": "0110782",
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                    "id": "0110782",
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                }
            ]
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                    "id": "0110782",
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                }
            ]
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                    "name": "Rattus norvegicus",
                    "taxid": 10116,
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                }
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                {
                    "id": "0110782",
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                }
            ]
        },
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                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                {
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                {
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                {
                    "name": "polyposis locus protein 1 homolog",
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                {
                    "name": "receptor expression-enhancing protein 5",
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                {
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                {
                    "id": "0110782",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0110782"
                }
            ]
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                    "reference_species": "Rattus norvegicus [10116]"
                }
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                {
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                {
                    "name": "polyposis locus protein 1-like 1",
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                {
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                    "id": "0110782",
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                }
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                {
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                {
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                {
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                {
                    "name": "anon-WO0118547.113",
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                    "id": "0110782",
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                }
            ]
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                    "name": "Drosophila melanogaster",
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                }
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                {
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            ],
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                {
                    "name": "BcDNA:AT31258",
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                {
                    "name": "BcDNA:AT31258",
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                {
                    "name": "CG4960",
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                },
                {
                    "name": "Dmel\\CG4960",
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                {
                    "name": "Dmel_CG4960",
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                }
            ],
            "record_id": "Q9VBM3-1",
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                {
                    "name": "receptor expression enhancing protein B, isoform D",
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            ],
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                {
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                    "name": "CT24597",
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                {
                    "name": "Dmel\\CG8331",
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                {
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            "record_id": "A1Z9M2-1",
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                    "id": "0110782",
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            ]
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                {
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                {
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                {
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                    "name": "Yip2c",
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                    "id": "0110782",
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            ]
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                {
                    "name": "SGC32445",
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                {
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                {
                    "name": "SPG72B",
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                    "id": "0110782",
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                {
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                    "id": "0110782",
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                {
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                {
                    "name": "Protein TB2",
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                {
                    "name": "deleted in polyposis 1",
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                {
                    "name": "polyposis coli region hypothetical protein DP1",
                    "type": "synonym"
                },
                {
                    "name": "polyposis locus protein 1",
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                {
                    "name": "receptor expression-enhancing protein 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "REEP5",
                    "type": "recommended"
                },
                {
                    "name": "C5orf18",
                    "type": "synonym"
                },
                {
                    "name": "D5S346",
                    "type": "synonym"
                },
                {
                    "name": "DP1",
                    "type": "synonym"
                },
                {
                    "name": "POB16",
                    "type": "synonym"
                },
                {
                    "name": "REEP5",
                    "type": "synonym"
                },
                {
                    "name": "TB2",
                    "type": "synonym"
                },
                {
                    "name": "YOP1",
                    "type": "synonym"
                },
                {
                    "name": "Yip2e",
                    "type": "synonym"
                }
            ],
            "record_id": "Q00765-1",
            "evidence": [
                {
                    "id": "0110782",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110782"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110782"
}