{
    "disease_id": "DOID:0110764",
    "recommended_name": {
        "id": "DOID:0110764",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110764",
        "name": "hereditary spastic paraplegia 11",
        "description": "A hereditary spastic paraplegia that has_material_basis_in mutation in the SPG11 gene on chromosome 15q21."
    },
    "synonyms": [
        {
            "id": "DOID:0110764",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110764",
            "name": "HSP-TCC",
            "description": ""
        },
        {
            "id": "DOID:0110764",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110764",
            "name": "Nakamura-Osame syndrome",
            "description": ""
        },
        {
            "id": "DOID:0110764",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110764",
            "name": "SPG11",
            "description": ""
        },
        {
            "id": "DOID:0110764",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110764",
            "name": "autosomal recessive spastic paraplegia 11",
            "description": ""
        },
        {
            "id": "DOID:0110764",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110764",
            "name": "autosomal recessive spastic paraplegia type 11",
            "description": ""
        },
        {
            "id": "DOID:0110764",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110764",
            "name": "autosomal recessive spastic paraplegia complicated with thin corpus callosum",
            "description": ""
        },
        {
            "id": "DOID:0110764",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110764",
            "name": "spastic paraplegia-intellectual disability-thin corpus callosum syndrome",
            "description": ""
        },
        {
            "id": "DOID:0110764",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110764",
            "name": "autosomal recessive spastic paraplegia with mental impairment and thin corpus callosum",
            "description": ""
        },
        {
            "id": "MONDO:0011445",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011445",
            "name": "hereditary spastic paraplegia 11",
            "description": "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the SPG11 gene."
        },
        {
            "id": "MONDO:0011445",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011445",
            "name": "HSP-TCC",
            "description": ""
        },
        {
            "id": "MONDO:0011445",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011445",
            "name": "Nakamura-Osame syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011445",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011445",
            "name": "SPG11",
            "description": ""
        },
        {
            "id": "MONDO:0011445",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011445",
            "name": "SPG11 hereditary spastic paraplegia",
            "description": ""
        },
        {
            "id": "MONDO:0011445",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011445",
            "name": "autosomal recessive spastic paraplegia type 11",
            "description": ""
        },
        {
            "id": "MONDO:0011445",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011445",
            "name": "hereditary spastic paraplegia caused by mutation in SPG11",
            "description": ""
        },
        {
            "id": "MONDO:0011445",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011445",
            "name": "hereditary spastic paraplegia type 11",
            "description": ""
        },
        {
            "id": "MONDO:0011445",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011445",
            "name": "spastic paraplegia-intellectual disability-thin corpus callosum syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011445",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011445",
            "name": "Nakamura Osame syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011445",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011445",
            "name": "hereditary spastic paraplegia mental impairment and thin corpus callosum",
            "description": ""
        },
        {
            "id": "MONDO:0011445",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011445",
            "name": "spastic paraplegia - intellectual deficit - thin corpus callosum",
            "description": ""
        },
        {
            "id": "MONDO:0011445",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011445",
            "name": "spastic paraplegia 11",
            "description": ""
        },
        {
            "id": "MONDO:0011445",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011445",
            "name": "spastic paraplegia 11, autosomal recessive",
            "description": ""
        },
        {
            "id": "MIM:604360",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/604360",
            "name": "Spastic paraplegia 11, autosomal recessive",
            "description": "Spastic paraplegia 11, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110764"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110764",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110764",
            "categories": []
        },
        {
            "id": "MONDO:0011445",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011445",
            "categories": []
        },
        {
            "id": "MIM:604360",
            "database": "MIM",
            "url": "https://www.omim.org/entry/604360",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q3UHA3-1",
            "uniprot_ac": "Q3UHA3",
            "uniprot_id": "SPTCS_MOUSE",
            "refseq_ac": "NP_663506",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Spatacsin",
                    "type": "recommended"
                },
                {
                    "name": "Spastic paraplegia 11 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "spastic paraplegia 11 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "spatacsin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Spg11",
                    "type": "recommended"
                },
                {
                    "name": "6030465E24Rik",
                    "type": "synonym"
                },
                {
                    "name": "A330015I11",
                    "type": "synonym"
                },
                {
                    "name": "C530005A01Rik",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa1840",
                    "type": "synonym"
                },
                {
                    "name": "Spg11",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3UHA3-1",
            "evidence": [
                {
                    "id": "0110764",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110764"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96JI7-1",
            "uniprot_ac": "Q96JI7",
            "uniprot_id": "SPTCS_HUMAN",
            "refseq_ac": "NP_001153699",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Spatacsin",
                    "type": "recommended"
                },
                {
                    "name": "Colorectal carcinoma-associated protein",
                    "type": "synonym"
                },
                {
                    "name": "SPG11, spatacsin vesicle trafficking associated",
                    "type": "synonym"
                },
                {
                    "name": "Spastic paraplegia 11 protein",
                    "type": "synonym"
                },
                {
                    "name": "amyotrophic lateral sclerosis 5",
                    "type": "synonym"
                },
                {
                    "name": "colorectal carcinoma-associated protein",
                    "type": "synonym"
                },
                {
                    "name": "spastic paraplegia 11 (autosomal recessive)",
                    "type": "synonym"
                },
                {
                    "name": "spastic paraplegia 11 protein",
                    "type": "synonym"
                },
                {
                    "name": "spatacsin isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "spatacsin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SPG11",
                    "type": "recommended"
                },
                {
                    "name": "ALS5",
                    "type": "synonym"
                },
                {
                    "name": "CMT2X",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1840",
                    "type": "synonym"
                },
                {
                    "name": "SPG11",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96JI7-1",
            "evidence": [
                {
                    "id": "604360",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/604360"
                },
                {
                    "id": "0110764",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110764"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2JZP7-1",
            "uniprot_ac": "A0A0G2JZP7",
            "uniprot_id": "A0A0G2JZP7_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "SPG11 vesicle trafficking associated, spatacsin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Spg11",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A0G2JZP7-1",
            "evidence": [
                {
                    "id": "0110764",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110764"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W1Y8-1",
            "uniprot_ac": "Q9W1Y8",
            "uniprot_id": "Q9W1Y8_DROME",
            "refseq_ac": "NP_001286748",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Spatacsin C-terminal domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "CG13531-PC",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Spg11",
                    "type": "recommended"
                },
                {
                    "name": "CG13531",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG13531",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG13531",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W1Y8-1",
            "evidence": [
                {
                    "id": "0110764",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110764"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110764"
}