{
    "disease_id": "DOID:0110792",
    "recommended_name": {
        "id": "DOID:0110792",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110792",
        "name": "hereditary spastic paraplegia 4",
        "description": "A hereditary spastic paraplegia that is characterized by slowly progressive muscle weakness and spasticity and has_material_basis_in mutation in the SPAST gene on chromosome 2p22."
    },
    "synonyms": [
        {
            "id": "DOID:0110792",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110792",
            "name": "SPG4",
            "description": ""
        },
        {
            "id": "DOID:0110792",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110792",
            "name": "autosomal dominant spastic paraplegia 4",
            "description": ""
        },
        {
            "id": "DOID:0110792",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110792",
            "name": "autosomal dominant spastic paraplegia type 4",
            "description": ""
        },
        {
            "id": "MONDO:0008438",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008438",
            "name": "hereditary spastic paraplegia 4",
            "description": "Autosomal dominant spastic paraplegia type 4 (SPG4) is a form of hereditary spastic paraplegia with high intrafamilial clinical variability, characterized in most cases as a pure phenotype with an adult onset (mainly the 3rd to 5th decade of life, but that can present at any age) of progressive gait impairment due to bilateral lower-limb spasticity and weakness as well as very mild proximal weakness and urinary urgency. In some cases, a complex phenotype is also reported with additional manifestations including cognitive impairment, cerebellar ataxia, epilepsy and neuropathy. A faster disease progression is noted in patients with a later age of onset."
        },
        {
            "id": "MONDO:0008438",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008438",
            "name": "SPAST hereditary spastic paraplegia",
            "description": ""
        },
        {
            "id": "MONDO:0008438",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008438",
            "name": "SPG4",
            "description": ""
        },
        {
            "id": "MONDO:0008438",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008438",
            "name": "autosomal dominant spastic paraplegia type 4",
            "description": ""
        },
        {
            "id": "MONDO:0008438",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008438",
            "name": "hereditary spastic paraplegia 4",
            "description": ""
        },
        {
            "id": "MONDO:0008438",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008438",
            "name": "hereditary spastic paraplegia caused by mutation in SPAST",
            "description": ""
        },
        {
            "id": "MONDO:0008438",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008438",
            "name": "hereditary spastic paraplegia type 4",
            "description": ""
        },
        {
            "id": "MONDO:0008438",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008438",
            "name": "FSP2",
            "description": ""
        },
        {
            "id": "MONDO:0008438",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008438",
            "name": "familial spastic paraplegia autosomal dominant 2",
            "description": ""
        },
        {
            "id": "MONDO:0008438",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008438",
            "name": "spastic paraplegia 4",
            "description": ""
        },
        {
            "id": "MONDO:0008438",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008438",
            "name": "spastic paraplegia 4, autosomal dominant",
            "description": ""
        },
        {
            "id": "MIM:182601",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/182601",
            "name": "Spastic paraplegia 4, autosomal dominant",
            "description": "Spastic paraplegia 4, autosomal dominant"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110792"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110792",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110792",
            "categories": []
        },
        {
            "id": "MONDO:0008438",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008438",
            "categories": []
        },
        {
            "id": "MIM:182601",
            "database": "MIM",
            "url": "https://www.omim.org/entry/182601",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6NW58-1",
            "uniprot_ac": "Q6NW58",
            "uniprot_id": "SPAST_DANRE",
            "refseq_ac": "NP_998080",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Spastin",
                    "type": "recommended"
                },
                {
                    "name": "5.6.1.1",
                    "type": "synonym"
                },
                {
                    "name": "spastin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "spast",
                    "type": "recommended"
                },
                {
                    "name": "SPAST",
                    "type": "synonym"
                },
                {
                    "name": "SPG4",
                    "type": "synonym"
                },
                {
                    "name": "si:ch73-233a22.3",
                    "type": "synonym"
                },
                {
                    "name": "spast",
                    "type": "synonym"
                },
                {
                    "name": "spg4",
                    "type": "synonym"
                },
                {
                    "name": "zgc:85952",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6NW58-1",
            "evidence": [
                {
                    "id": "0110792",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110792"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9QYY8-1",
            "uniprot_ac": "Q9QYY8",
            "uniprot_id": "SPAST_MOUSE",
            "refseq_ac": "NP_001156342",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Spastin",
                    "type": "recommended"
                },
                {
                    "name": "5.6.1.1",
                    "type": "synonym"
                },
                {
                    "name": "spastic paraplegia 4 homolog",
                    "type": "synonym"
                },
                {
                    "name": "spastin isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Spast",
                    "type": "recommended"
                },
                {
                    "name": "Kiaa1083",
                    "type": "synonym"
                },
                {
                    "name": "SPAST",
                    "type": "synonym"
                },
                {
                    "name": "SPG4",
                    "type": "synonym"
                },
                {
                    "name": "Spast",
                    "type": "synonym"
                },
                {
                    "name": "Spg4",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA1083",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9QYY8-1",
            "evidence": [
                {
                    "id": "0110792",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110792"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UBP0-1",
            "uniprot_ac": "Q9UBP0",
            "uniprot_id": "SPAST_HUMAN",
            "refseq_ac": "NP_055761",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Spastin",
                    "type": "recommended"
                },
                {
                    "name": "5.6.1.1",
                    "type": "synonym"
                },
                {
                    "name": "Spastic paraplegia 4 protein",
                    "type": "synonym"
                },
                {
                    "name": "spastic paraplegia 4 (autosomal dominant",
                    "type": "synonym"
                },
                {
                    "name": "spastic paraplegia 4 protein",
                    "type": "synonym"
                },
                {
                    "name": "spastin isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "spastin)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SPAST",
                    "type": "recommended"
                },
                {
                    "name": "ADPSP",
                    "type": "synonym"
                },
                {
                    "name": "FSP2",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1083",
                    "type": "synonym"
                },
                {
                    "name": "SPAST",
                    "type": "synonym"
                },
                {
                    "name": "SPG4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UBP0-1",
            "evidence": [
                {
                    "id": "182601",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/182601"
                },
                {
                    "id": "0110792",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110792"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P40328-1",
            "uniprot_ac": "P40328",
            "uniprot_id": "TBP6_YEAST",
            "refseq_ac": "NP_015251",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Microtubule severing ATPase YTA6",
                    "type": "recommended"
                },
                {
                    "name": "5.6.1.1",
                    "type": "synonym"
                },
                {
                    "name": "Tat-binding homolog 6",
                    "type": "synonym"
                },
                {
                    "name": "putative AAA family ATPase YTA6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "YTA6",
                    "type": "recommended"
                },
                {
                    "name": "LPF11C",
                    "type": "synonym"
                },
                {
                    "name": "YTA6",
                    "type": "synonym"
                }
            ],
            "record_id": "P40328-1",
            "evidence": [
                {
                    "id": "0110792",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110792"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P39955-1",
            "uniprot_ac": "P39955",
            "uniprot_id": "SAPR1_YEAST",
            "refseq_ac": "NP_010966",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Microtubule severing ATPase SAP1",
                    "type": "recommended"
                },
                {
                    "name": "5.6.1.1",
                    "type": "synonym"
                },
                {
                    "name": "Protein SAP1",
                    "type": "synonym"
                },
                {
                    "name": "SIN1-associated protein",
                    "type": "synonym"
                },
                {
                    "name": "putative AAA family ATPase SAP1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SAP1",
                    "type": "recommended"
                },
                {
                    "name": "SAP1",
                    "type": "synonym"
                }
            ],
            "record_id": "P39955-1",
            "evidence": [
                {
                    "id": "0110792",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110792"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B2RYN7-1",
            "uniprot_ac": "B2RYN7",
            "uniprot_id": "SPAST_RAT",
            "refseq_ac": "NP_001102172",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Spastin",
                    "type": "recommended"
                },
                {
                    "name": "5.6.1.1",
                    "type": "synonym"
                },
                {
                    "name": "spastic paraplegia 4 (autosomal dominant",
                    "type": "synonym"
                },
                {
                    "name": "spastin isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "spastin)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Spast",
                    "type": "recommended"
                },
                {
                    "name": "SPAST",
                    "type": "synonym"
                },
                {
                    "name": "SPG4",
                    "type": "synonym"
                },
                {
                    "name": "Spast",
                    "type": "synonym"
                },
                {
                    "name": "Spg4",
                    "type": "synonym"
                }
            ],
            "record_id": "B2RYN7-1",
            "evidence": [
                {
                    "id": "0110792",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110792"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8I0P1-1",
            "uniprot_ac": "Q8I0P1",
            "uniprot_id": "SPAST_DROME",
            "refseq_ac": "NP_001303438",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Spastin",
                    "type": "recommended"
                },
                {
                    "name": "5.6.1.1",
                    "type": "synonym"
                },
                {
                    "name": "CG5977-PE",
                    "type": "synonym"
                },
                {
                    "name": "D-Spastin",
                    "type": "synonym"
                },
                {
                    "name": "D-spastin",
                    "type": "synonym"
                },
                {
                    "name": "Dm-Spastin",
                    "type": "synonym"
                },
                {
                    "name": "Dspastin",
                    "type": "synonym"
                },
                {
                    "name": "dspastin",
                    "type": "synonym"
                },
                {
                    "name": "spas-PE",
                    "type": "synonym"
                },
                {
                    "name": "spasin",
                    "type": "synonym"
                },
                {
                    "name": "spastin, isoform E",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "spas",
                    "type": "recommended"
                },
                {
                    "name": "CG5977",
                    "type": "synonym"
                },
                {
                    "name": "D-spastin",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5977",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5977",
                    "type": "synonym"
                },
                {
                    "name": "Dspastin",
                    "type": "synonym"
                },
                {
                    "name": "SPAST",
                    "type": "synonym"
                },
                {
                    "name": "SPAS",
                    "type": "synonym"
                },
                {
                    "name": "Spastin",
                    "type": "synonym"
                },
                {
                    "name": "Spas",
                    "type": "synonym"
                },
                {
                    "name": "spas",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8I0P1-1",
            "evidence": [
                {
                    "id": "0110792",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110792"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110792"
}