{
    "disease_id": "DOID:0110811",
    "recommended_name": {
        "id": "DOID:0110811",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110811",
        "name": "hereditary spastic paraplegia 6",
        "description": "A hereditary spastic paraplegia that is usually characterized by rapidly progressive and severe spastic paraplegia and has_material_basis_in mutation in the NIPA1 gene on chromosome 15q11.2."
    },
    "synonyms": [
        {
            "id": "DOID:0110811",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110811",
            "name": "FSP3",
            "description": ""
        },
        {
            "id": "DOID:0110811",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110811",
            "name": "SPG6",
            "description": ""
        },
        {
            "id": "DOID:0110811",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110811",
            "name": "autosomal dominant spastic paraplegia 6",
            "description": ""
        },
        {
            "id": "DOID:0110811",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110811",
            "name": "autosomal dominant spastic paraplegia type 6",
            "description": ""
        },
        {
            "id": "DOID:0110811",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110811",
            "name": "autosomal dominant familial spastic paraplegia type 3",
            "description": ""
        },
        {
            "id": "MONDO:0010878",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010878",
            "name": "hereditary spastic paraplegia 6",
            "description": "Autosomal dominant spastic paraplegia type 6 (SPG6) is a form of hereditary spastic paraplegia which usually presents in late adolescence or early adulthood as a pure phenotype of lower limb spasticity with hyperreflexia and extensor plantar responses, as well as mild bladder disturbances and pes cavus. Rarely, it can present as a complex phenotype with additional manifestations including epilepsy, variable peripheral neuropathy and/or memory impairment."
        },
        {
            "id": "MONDO:0010878",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010878",
            "name": "FSP3",
            "description": ""
        },
        {
            "id": "MONDO:0010878",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010878",
            "name": "NIPA1 hereditary spastic paraplegia",
            "description": ""
        },
        {
            "id": "MONDO:0010878",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010878",
            "name": "SPG6",
            "description": ""
        },
        {
            "id": "MONDO:0010878",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010878",
            "name": "autosomal dominant spastic paraplegia type 6",
            "description": ""
        },
        {
            "id": "MONDO:0010878",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010878",
            "name": "hereditary spastic paraplegia caused by mutation in NIPA1",
            "description": ""
        },
        {
            "id": "MONDO:0010878",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010878",
            "name": "hereditary spastic paraplegia type 6",
            "description": ""
        },
        {
            "id": "MONDO:0010878",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010878",
            "name": "familial spastic paraplegia autosomal dominant 3",
            "description": ""
        },
        {
            "id": "MONDO:0010878",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010878",
            "name": "spastic paraplegia 6",
            "description": ""
        },
        {
            "id": "MONDO:0010878",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010878",
            "name": "spastic paraplegia 6, autosomal dominant",
            "description": ""
        },
        {
            "id": "MIM:600363",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/600363",
            "name": "Spastic paraplegia 6, autosomal dominant",
            "description": "Spastic paraplegia 6, autosomal dominant"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110811"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110811",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110811",
            "categories": []
        },
        {
            "id": "MONDO:0010878",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010878",
            "categories": []
        },
        {
            "id": "MIM:600363",
            "database": "MIM",
            "url": "https://www.omim.org/entry/600363",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8BHK1-1",
            "uniprot_ac": "Q8BHK1",
            "uniprot_id": "NIPA1_MOUSE",
            "refseq_ac": "NP_705806",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Magnesium transporter NIPA1",
                    "type": "recommended"
                },
                {
                    "name": "Non-imprinted in Prader-Willi/Angelman syndrome region protein 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "magnesium transporter NIPA1",
                    "type": "synonym"
                },
                {
                    "name": "non-imprinted in Prader-Willi/Angelman syndrome region protein 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "spastic paraplegia 6 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nipa1",
                    "type": "recommended"
                },
                {
                    "name": "1110027G09Rik",
                    "type": "synonym"
                },
                {
                    "name": "A830014A18Rik",
                    "type": "synonym"
                },
                {
                    "name": "FSP3",
                    "type": "synonym"
                },
                {
                    "name": "Nipa1",
                    "type": "synonym"
                },
                {
                    "name": "Spg6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BHK1-1",
            "evidence": [
                {
                    "id": "0110811",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110811"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7RTP0-1",
            "uniprot_ac": "Q7RTP0",
            "uniprot_id": "NIPA1_HUMAN",
            "refseq_ac": "NP_001135747",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Magnesium transporter NIPA1",
                    "type": "recommended"
                },
                {
                    "name": "Non-imprinted in Prader-Willi/Angelman syndrome region protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Spastic paraplegia 6 protein",
                    "type": "synonym"
                },
                {
                    "name": "magnesium transporter NIPA1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "magnesium transporter NIPA1",
                    "type": "synonym"
                },
                {
                    "name": "non imprinted in Prader-Willi/Angelman syndrome 1",
                    "type": "synonym"
                },
                {
                    "name": "non-imprinted in Prader-Willi/Angelman syndrome region protein 1",
                    "type": "synonym"
                },
                {
                    "name": "spastic paraplegia 6 protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NIPA1",
                    "type": "recommended"
                },
                {
                    "name": "FSP3",
                    "type": "synonym"
                },
                {
                    "name": "NIPA1",
                    "type": "synonym"
                },
                {
                    "name": "SLC57A1",
                    "type": "synonym"
                },
                {
                    "name": "SPG6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7RTP0-1",
            "evidence": [
                {
                    "id": "600363",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/600363"
                },
                {
                    "id": "0110811",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110811"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LT49-1",
            "uniprot_ac": "A0ABK0LT49",
            "uniprot_id": "A0ABK0LT49_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "NIPA magnesium transporter 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nipa1",
                    "type": "recommended"
                }
            ],
            "record_id": "A0ABK0LT49-1",
            "evidence": [
                {
                    "id": "0110811",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110811"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "M9PD12-1",
            "uniprot_ac": "M9PD12",
            "uniprot_id": "M9PD12_DROME",
            "refseq_ac": "NP_001260421",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG12292-PB",
                    "type": "synonym"
                },
                {
                    "name": "Spichthyin, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "spichthyin, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "spichthyin",
                    "type": "synonym"
                },
                {
                    "name": "spict-PB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "spict",
                    "type": "recommended"
                },
                {
                    "name": "CG12292",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG12292",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG12292",
                    "type": "synonym"
                },
                {
                    "name": "Spict",
                    "type": "synonym"
                },
                {
                    "name": "spg6",
                    "type": "synonym"
                },
                {
                    "name": "spict",
                    "type": "synonym"
                }
            ],
            "record_id": "M9PD12-1",
            "evidence": [
                {
                    "id": "0110811",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110811"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110811"
}