{
    "disease_id": "DOID:0110810",
    "recommended_name": {
        "id": "DOID:0110810",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110810",
        "name": "hereditary spastic paraplegia 5A",
        "description": "A hereditary spastic paraplegia that is characterized by progressive muscle weakness and paraplegia and has_material_basis_in mutation in the CYP7B1 gene on chromosome 8q12."
    },
    "synonyms": [
        {
            "id": "DOID:0110810",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110810",
            "name": "SPG5A",
            "description": ""
        },
        {
            "id": "DOID:0110810",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110810",
            "name": "autosomal recessive spastic paraplegia 5A",
            "description": ""
        },
        {
            "id": "DOID:0110810",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110810",
            "name": "autosomal recessive spastic paraplegia type 5A",
            "description": ""
        },
        {
            "id": "MONDO:0010047",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010047",
            "name": "hereditary spastic paraplegia 5A",
            "description": "A form of hereditary spastic paraplegia characterized by either a pure phenotype of slowly progressive spastic paraplegia of the lower extremities with bladder dysfunction and pes cavus or a complex presentation with additional manifestations including cerebellar signs, nystagmus, distal or generalized muscle atrophy and cognitive impairment. Age of onset is highly variable, ranging from early childhood to adulthood. White matter hyperintensity and cerebellar and spinal cord atrophy may be noted, on brain magnetic resonance imaging, in some patients."
        },
        {
            "id": "MONDO:0010047",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010047",
            "name": "CYP7B1 pure or complex autosomal recessive spastic paraplegia",
            "description": ""
        },
        {
            "id": "MONDO:0010047",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010047",
            "name": "SPG5A",
            "description": ""
        },
        {
            "id": "MONDO:0010047",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010047",
            "name": "autosomal recessive spastic paraplegia type 5A",
            "description": ""
        },
        {
            "id": "MONDO:0010047",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010047",
            "name": "hereditary spastic paraplegia type 5A",
            "description": ""
        },
        {
            "id": "MONDO:0010047",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010047",
            "name": "pure or complex autosomal recessive spastic paraplegia caused by mutation in CYP7B1",
            "description": ""
        },
        {
            "id": "MONDO:0010047",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010047",
            "name": "spastic paraplegia type 5B, recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010047",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010047",
            "name": "autosomal recessive spastic paraplegia",
            "description": ""
        },
        {
            "id": "MONDO:0010047",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010047",
            "name": "spastic paraplegia 5A",
            "description": ""
        },
        {
            "id": "MONDO:0010047",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010047",
            "name": "spastic paraplegia 5A, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010047",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010047",
            "name": "spastic paraplegia type 5A",
            "description": ""
        },
        {
            "id": "MIM:270800",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/270800",
            "name": "Spastic paraplegia 5A, autosomal recessive",
            "description": "Spastic paraplegia 5A, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110810"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110810",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110810",
            "categories": []
        },
        {
            "id": "MONDO:0010047",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010047",
            "categories": []
        },
        {
            "id": "MIM:270800",
            "database": "MIM",
            "url": "https://www.omim.org/entry/270800",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0ACD6B5U4-1",
            "uniprot_ac": "A0ACD6B5U4",
            "uniprot_id": "A0ACD6B5U4_DANRE",
            "refseq_ac": "XP_699028",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytochrome P450 7B1",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450 7B1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cyp7b1",
                    "type": "recommended"
                },
                {
                    "name": "cyp7b1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ACD6B5U4-1",
            "evidence": [
                {
                    "id": "0110810",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110810"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q60991-1",
            "uniprot_ac": "Q60991",
            "uniprot_id": "CP7B1_MOUSE",
            "refseq_ac": "NP_031851",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytochrome P450 7B1",
                    "type": "recommended"
                },
                {
                    "name": "1.14.14.26",
                    "type": "synonym"
                },
                {
                    "name": "1.14.14.29",
                    "type": "synonym"
                },
                {
                    "name": "24-hydroxycholesterol 7-alpha-hydroxylase",
                    "type": "synonym"
                },
                {
                    "name": "25-hydroxycholesterol 7-alpha-hydroxylase",
                    "type": "synonym"
                },
                {
                    "name": "25/26-hydroxycholesterol 7-alpha-hydroxylase",
                    "type": "synonym"
                },
                {
                    "name": "3-hydroxysteroid 7-alpha hydroxylase",
                    "type": "synonym"
                },
                {
                    "name": "HCT-1",
                    "type": "synonym"
                },
                {
                    "name": "Hippocampal transcript 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "Oxysterol 7-alpha-hydroxylase",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450 7B1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450 7B1",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450, 7b1",
                    "type": "synonym"
                },
                {
                    "name": "hippocampal transcript 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "oxysterol 7-alpha-hydroxylase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cyp7b1",
                    "type": "recommended"
                },
                {
                    "name": "Cyp7b1",
                    "type": "synonym"
                },
                {
                    "name": "D3Ertd552e",
                    "type": "synonym"
                },
                {
                    "name": "hct-1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q60991-1",
            "evidence": [
                {
                    "id": "0110810",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110810"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O75881-1",
            "uniprot_ac": "O75881",
            "uniprot_id": "CP7B1_HUMAN",
            "refseq_ac": "NP_004811",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytochrome P450 7B1",
                    "type": "recommended"
                },
                {
                    "name": "1.14.14.26",
                    "type": "synonym"
                },
                {
                    "name": "1.14.14.29",
                    "type": "synonym"
                },
                {
                    "name": "24-hydroxycholesterol 7-alpha-hydroxylase",
                    "type": "synonym"
                },
                {
                    "name": "25-hydroxycholesterol 7-alpha-hydroxylase",
                    "type": "synonym"
                },
                {
                    "name": "25/26-hydroxycholesterol 7-alpha-hydroxylase",
                    "type": "synonym"
                },
                {
                    "name": "3-hydroxysteroid 7-alpha hydroxylase",
                    "type": "synonym"
                },
                {
                    "name": "Oxysterol 7-alpha-hydroxylase",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450 7B1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450 7B1",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450, subfamily VIIB (oxysterol 7 alpha-hydroxylase), polypeptide 1",
                    "type": "synonym"
                },
                {
                    "name": "oxysterol 7-alpha-hydroxylase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CYP7B1",
                    "type": "recommended"
                },
                {
                    "name": "CBAS3",
                    "type": "synonym"
                },
                {
                    "name": "CP7B",
                    "type": "synonym"
                },
                {
                    "name": "CYP7B1",
                    "type": "synonym"
                },
                {
                    "name": "SPG5A",
                    "type": "synonym"
                }
            ],
            "record_id": "O75881-1",
            "evidence": [
                {
                    "id": "270800",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/270800"
                },
                {
                    "id": "0110810",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110810"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q63688-1",
            "uniprot_ac": "Q63688",
            "uniprot_id": "CP7B1_RAT",
            "refseq_ac": "NP_062011",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "25-hydroxycholesterol 7-alpha-hydroxylase",
                    "type": "recommended"
                },
                {
                    "name": "1.14.14.29",
                    "type": "synonym"
                },
                {
                    "name": "25-hydroxycholesterol 7-alpha-hydroxylase",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome P450 7B1",
                    "type": "synonym"
                },
                {
                    "name": "HCT-1",
                    "type": "synonym"
                },
                {
                    "name": "Hippocampal transcript 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "Oxysterol 7-alpha-hydroxylase",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450 7B1",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450, family 7, subfamily b, polypeptide 1",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450, subfamily 7B, polypeptide 1",
                    "type": "synonym"
                },
                {
                    "name": "hippocampal transcript 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "oxysterol 7-alpha-hydroxylase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cyp7b1",
                    "type": "recommended"
                },
                {
                    "name": "Cyp7b1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q63688-1",
            "evidence": [
                {
                    "id": "0110810",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110810"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P18088-1",
            "uniprot_ac": "P18088",
            "uniprot_id": "DCE1_RAT",
            "refseq_ac": "NP_058703",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glutamate decarboxylase 1",
                    "type": "recommended"
                },
                {
                    "name": "4.1.1.15",
                    "type": "synonym"
                },
                {
                    "name": "67 kDa glutamic acid decarboxylase",
                    "type": "synonym"
                },
                {
                    "name": "GAD-67",
                    "type": "synonym"
                },
                {
                    "name": "Glutamate decarboxylase 1 (brain)",
                    "type": "synonym"
                },
                {
                    "name": "Glutamate decarboxylase 67 kDa isoform",
                    "type": "synonym"
                },
                {
                    "name": "glutamate decarboxylase 1 variant GAD67NT",
                    "type": "synonym"
                },
                {
                    "name": "glutamate decarboxylase 1",
                    "type": "synonym"
                },
                {
                    "name": "glutamic acid decarboxylase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gad1",
                    "type": "recommended"
                },
                {
                    "name": "Gad1",
                    "type": "synonym"
                },
                {
                    "name": "Gad67",
                    "type": "synonym"
                }
            ],
            "record_id": "P18088-1",
            "evidence": [
                {
                    "id": "0110810",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110810"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q05048-1",
            "uniprot_ac": "Q05048",
            "uniprot_id": "CSTF1_HUMAN",
            "refseq_ac": "NP_001028693",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cleavage stimulation factor subunit 1",
                    "type": "recommended"
                },
                {
                    "name": "CF-1 50 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "CSTF 50 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "Cleavage stimulation factor 50 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "CstF-50",
                    "type": "synonym"
                },
                {
                    "name": "cleavage stimulation factor 50 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "cleavage stimulation factor subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa",
                    "type": "synonym"
                },
                {
                    "name": "cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kD",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CSTF1",
                    "type": "recommended"
                },
                {
                    "name": "CSTF1",
                    "type": "synonym"
                },
                {
                    "name": "CstF-50",
                    "type": "synonym"
                },
                {
                    "name": "CstFp50",
                    "type": "synonym"
                }
            ],
            "record_id": "Q05048-1",
            "evidence": [
                {
                    "id": "0110810",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110810"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110810"
}