{
    "disease_id": "DOID:0110816",
    "recommended_name": {
        "id": "DOID:0110816",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110816",
        "name": "hereditary spastic paraplegia 7",
        "description": "A hereditary spastic paraplegia that is characterized by slowly progressive onset, usually between 18-60 years of age, and generally more severe spasticity and has_material_basis_in mutation in the SPG7 gene on chromosome 16q24."
    },
    "synonyms": [
        {
            "id": "DOID:0110816",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110816",
            "name": "SPG7",
            "description": ""
        },
        {
            "id": "DOID:0110816",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110816",
            "name": "autosomal recessive spastic paraplegia 7",
            "description": ""
        },
        {
            "id": "DOID:0110816",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110816",
            "name": "spastic paraplegia type 7",
            "description": ""
        },
        {
            "id": "MONDO:0011803",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011803",
            "name": "hereditary spastic paraplegia 7",
            "description": "Autosomal recessive spastic paraplegia type 7 is a form of hereditary spastic paraplegia characterized by an onset usually in adulthood (but ranging from 10-72 years) of progressive bilateral lower limb weakness and spasticity, sphincter dysfunction, decreased vibratory sense at the ankles and with additional manifestations including optical neuropathy, nystagmus, strabismus, decreased hearing, scoliosis, pes cavus, motor and sensory neuropathy, amyotrophy, blepharoptosis and ophthalmoplegia."
        },
        {
            "id": "MONDO:0011803",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011803",
            "name": "SPG7",
            "description": ""
        },
        {
            "id": "MONDO:0011803",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011803",
            "name": "SPG7 hereditary spastic paraplegia",
            "description": ""
        },
        {
            "id": "MONDO:0011803",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011803",
            "name": "hereditary spastic paraplegia 7",
            "description": ""
        },
        {
            "id": "MONDO:0011803",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011803",
            "name": "hereditary spastic paraplegia caused by mutation in SPG7",
            "description": ""
        },
        {
            "id": "MONDO:0011803",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011803",
            "name": "hereditary spastic paraplegia type 7",
            "description": ""
        },
        {
            "id": "MONDO:0011803",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011803",
            "name": "spastic paraplegia type 7",
            "description": ""
        },
        {
            "id": "MONDO:0011803",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011803",
            "name": "hereditary spastic paraplegia paraplegin type",
            "description": ""
        },
        {
            "id": "MONDO:0011803",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011803",
            "name": "spastic paraplegia 7",
            "description": ""
        },
        {
            "id": "MONDO:0011803",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011803",
            "name": "spastic paraplegia 7, autosomal recessive",
            "description": ""
        },
        {
            "id": "MIM:607259",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/607259",
            "name": "Spastic paraplegia 7, autosomal recessive",
            "description": "Spastic paraplegia 7, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110816"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110816",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110816",
            "categories": []
        },
        {
            "id": "MONDO:0011803",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011803",
            "categories": []
        },
        {
            "id": "MIM:607259",
            "database": "MIM",
            "url": "https://www.omim.org/entry/607259",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E7F2S4-1",
            "uniprot_ac": "E7F2S4",
            "uniprot_id": "E7F2S4_DANRE",
            "refseq_ac": "XP_001923118",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial inner membrane m-AAA protease component paraplegin",
                    "type": "recommended"
                },
                {
                    "name": "Paraplegin",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial inner membrane m-AAA protease component paraplegin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "spg7",
                    "type": "recommended"
                },
                {
                    "name": "spg7",
                    "type": "synonym"
                }
            ],
            "record_id": "E7F2S4-1",
            "evidence": [
                {
                    "id": "0110816",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110816"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3ULF4-1",
            "uniprot_ac": "Q3ULF4",
            "uniprot_id": "SPG7_MOUSE",
            "refseq_ac": "NP_694816",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial inner membrane m-AAA protease component paraplegin",
                    "type": "recommended"
                },
                {
                    "name": "3.4.24.-",
                    "type": "synonym"
                },
                {
                    "name": "3.6.-.-",
                    "type": "synonym"
                },
                {
                    "name": "Paraplegin",
                    "type": "synonym"
                },
                {
                    "name": "Spastic paraplegia 7 protein",
                    "type": "synonym"
                },
                {
                    "name": "cell matrix adhesion regulator",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial inner membrane m-AAA protease component paraplegin isoform 1 preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial inner membrane m-AAA protease component paraplegin",
                    "type": "synonym"
                },
                {
                    "name": "paraplegin",
                    "type": "synonym"
                },
                {
                    "name": "spastic paraplegia 7 homolog",
                    "type": "synonym"
                },
                {
                    "name": "spastic paraplegia 7 protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Spg7",
                    "type": "recommended"
                },
                {
                    "name": "Cmar",
                    "type": "synonym"
                },
                {
                    "name": "PGN",
                    "type": "synonym"
                },
                {
                    "name": "Spg7",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3ULF4-1",
            "evidence": [
                {
                    "id": "0110816",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110816"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UQ90-1",
            "uniprot_ac": "Q9UQ90",
            "uniprot_id": "SPG7_HUMAN",
            "refseq_ac": "NP_003110",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial inner membrane m-AAA protease component paraplegin",
                    "type": "recommended"
                },
                {
                    "name": "3.4.24.-",
                    "type": "synonym"
                },
                {
                    "name": "3.6.-.-",
                    "type": "synonym"
                },
                {
                    "name": "Cell matrix adhesion regulator",
                    "type": "synonym"
                },
                {
                    "name": "Paraplegin",
                    "type": "synonym"
                },
                {
                    "name": "SPG7, paraplegin matrix AAA peptidase subunit",
                    "type": "synonym"
                },
                {
                    "name": "Spastic paraplegia 7 protein",
                    "type": "synonym"
                },
                {
                    "name": "cell matrix adhesion regulator",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial inner membrane m-AAA protease component paraplegin isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial inner membrane m-AAA protease component paraplegin",
                    "type": "synonym"
                },
                {
                    "name": "spastic paraplegia 7 (pure and complicated autosomal recessive)",
                    "type": "synonym"
                },
                {
                    "name": "spastic paraplegia 7 protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SPG7",
                    "type": "recommended"
                },
                {
                    "name": "CAR",
                    "type": "synonym"
                },
                {
                    "name": "CMAR",
                    "type": "synonym"
                },
                {
                    "name": "PGN",
                    "type": "synonym"
                },
                {
                    "name": "SPG5C",
                    "type": "synonym"
                },
                {
                    "name": "SPG7",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UQ90-1",
            "evidence": [
                {
                    "id": "607259",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/607259"
                },
                {
                    "id": "0110816",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110816"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7TT47-1",
            "uniprot_ac": "Q7TT47",
            "uniprot_id": "SPG7_RAT",
            "refseq_ac": "NP_852053",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial inner membrane m-AAA protease component paraplegin",
                    "type": "recommended"
                },
                {
                    "name": "3.4.24.-",
                    "type": "synonym"
                },
                {
                    "name": "3.6.-.-",
                    "type": "synonym"
                },
                {
                    "name": "Paraplegin",
                    "type": "synonym"
                },
                {
                    "name": "SPG7, paraplegin matrix AAA peptidase subunit",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial inner membrane m-AAA protease component paraplegin isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial inner membrane m-AAA protease component paraplegin",
                    "type": "synonym"
                },
                {
                    "name": "paraplegin",
                    "type": "synonym"
                },
                {
                    "name": "spastic paraplegia 7 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Spg7",
                    "type": "recommended"
                },
                {
                    "name": "Spg7",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7TT47-1",
            "evidence": [
                {
                    "id": "0110816",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110816"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W4W8-1",
            "uniprot_ac": "Q9W4W8",
            "uniprot_id": "Q9W4W8_DROME",
            "refseq_ac": "NP_570017",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "3.4.24.-",
                    "type": "synonym"
                },
                {
                    "name": "CG2658-PA",
                    "type": "synonym"
                },
                {
                    "name": "Paraplegin, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Paraplegin, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "Spg7-PA",
                    "type": "synonym"
                },
                {
                    "name": "paraplegin, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "paraplegin_DROME",
                    "type": "synonym"
                },
                {
                    "name": "paraplegin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Spg7",
                    "type": "recommended"
                },
                {
                    "name": "CG2658",
                    "type": "synonym"
                },
                {
                    "name": "Dm100G10.aj",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG2658",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG2658",
                    "type": "synonym"
                },
                {
                    "name": "EG:100G10.7",
                    "type": "synonym"
                },
                {
                    "name": "SPG7",
                    "type": "synonym"
                },
                {
                    "name": "Spg7",
                    "type": "synonym"
                },
                {
                    "name": "anon-3Ba",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W4W8-1",
            "evidence": [
                {
                    "id": "0110816",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110816"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110816"
}