{
    "disease_id": "DOID:0110808",
    "recommended_name": {
        "id": "DOID:0110808",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110808",
        "name": "hereditary spastic paraplegia 56",
        "description": "A hereditary spastic paraplegia that has_material_basis_in mutation in the CYP2U1 gene on chromosome 4q25."
    },
    "synonyms": [
        {
            "id": "DOID:0110808",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110808",
            "name": "SPG56",
            "description": ""
        },
        {
            "id": "DOID:0110808",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110808",
            "name": "autosomal recessive spastic paraplegia 56",
            "description": ""
        },
        {
            "id": "DOID:0110808",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110808",
            "name": "autosomal recessive spastic paraplegia type 56",
            "description": ""
        },
        {
            "id": "MONDO:0014015",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014015",
            "name": "hereditary spastic paraplegia 56",
            "description": "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the CYP2U1 gene."
        },
        {
            "id": "MONDO:0014015",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014015",
            "name": "CYP2U1 hereditary spastic paraplegia",
            "description": ""
        },
        {
            "id": "MONDO:0014015",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014015",
            "name": "SPG56",
            "description": ""
        },
        {
            "id": "MONDO:0014015",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014015",
            "name": "autosomal recessive spastic paraplegia type 56",
            "description": ""
        },
        {
            "id": "MONDO:0014015",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014015",
            "name": "hereditary spastic paraplegia caused by mutation in CYP2U1",
            "description": ""
        },
        {
            "id": "MONDO:0014015",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014015",
            "name": "hereditary spastic paraplegia type 56",
            "description": ""
        },
        {
            "id": "MONDO:0014015",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014015",
            "name": "spastic paraplegia 56, autosomal recessive",
            "description": ""
        },
        {
            "id": "MIM:615030",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615030",
            "name": "Spastic paraplegia 56, autosomal recessive, with or without pseudoxanthoma elasticum",
            "description": "Spastic paraplegia 56, autosomal recessive, with or without pseudoxanthoma elasticum"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110808"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110808",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110808",
            "categories": []
        },
        {
            "id": "MONDO:0014015",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014015",
            "categories": []
        },
        {
            "id": "MIM:615030",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615030",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "B8A5Q1-1",
            "uniprot_ac": "B8A5Q1",
            "uniprot_id": "B8A5Q1_DANRE",
            "refseq_ac": "NP_001139036",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytochrome P450 2U1",
                    "type": "recommended"
                },
                {
                    "name": "1.14.14.80",
                    "type": "synonym"
                },
                {
                    "name": "Long-chain fatty acid omega-monooxygenase",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450 2U1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cyp2u1",
                    "type": "recommended"
                },
                {
                    "name": "cyp2u1",
                    "type": "synonym"
                }
            ],
            "record_id": "B8A5Q1-1",
            "evidence": [
                {
                    "id": "0110808",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110808"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9CX98-1",
            "uniprot_ac": "Q9CX98",
            "uniprot_id": "CP2U1_MOUSE",
            "refseq_ac": "NP_082092",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytochrome P450 2U1",
                    "type": "recommended"
                },
                {
                    "name": "1.14.14.80",
                    "type": "synonym"
                },
                {
                    "name": "Long-chain fatty acid omega-monooxygenase",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450 2U1",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450, 2u1",
                    "type": "synonym"
                },
                {
                    "name": "long-chain fatty acid omega-monooxygenase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cyp2u1",
                    "type": "recommended"
                },
                {
                    "name": "8430436A10Rik",
                    "type": "synonym"
                },
                {
                    "name": "Cyp2u1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9CX98-1",
            "evidence": [
                {
                    "id": "0110808",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110808"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7Z449-1",
            "uniprot_ac": "Q7Z449",
            "uniprot_id": "CP2U1_HUMAN",
            "refseq_ac": "NP_898898",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytochrome P450 2U1",
                    "type": "recommended"
                },
                {
                    "name": "1.14.14.80",
                    "type": "synonym"
                },
                {
                    "name": "Long-chain fatty acid omega-monooxygenase",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450 2U1",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450, family 2, subfamily U, polypeptide 1",
                    "type": "synonym"
                },
                {
                    "name": "long-chain fatty acid omega-monooxygenase",
                    "type": "synonym"
                },
                {
                    "name": "spastic paraplegia 49",
                    "type": "synonym"
                },
                {
                    "name": "spastic paraplegia 56 (autosomal dominant)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CYP2U1",
                    "type": "recommended"
                },
                {
                    "name": "CYP2U1",
                    "type": "synonym"
                },
                {
                    "name": "P450TEC",
                    "type": "synonym"
                },
                {
                    "name": "SPG49",
                    "type": "synonym"
                },
                {
                    "name": "SPG56",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7Z449-1",
            "evidence": [
                {
                    "id": "615030",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615030"
                },
                {
                    "id": "0110808",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110808"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q4V8D1-1",
            "uniprot_ac": "Q4V8D1",
            "uniprot_id": "CP2U1_RAT",
            "refseq_ac": "NP_001380742",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytochrome P450 2U1",
                    "type": "recommended"
                },
                {
                    "name": "1.14.14.80",
                    "type": "synonym"
                },
                {
                    "name": "Long-chain fatty acid omega-monooxygenase",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450 2U1",
                    "type": "synonym"
                },
                {
                    "name": "long-chain fatty acid omega-monooxygenase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cyp2u1",
                    "type": "recommended"
                },
                {
                    "name": "Cyp2u1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q4V8D1-1",
            "evidence": [
                {
                    "id": "0110808",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110808"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q95078-1",
            "uniprot_ac": "Q95078",
            "uniprot_id": "CP18A_DROME",
            "refseq_ac": "NP_523403",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytochrome P450 18a1",
                    "type": "recommended"
                },
                {
                    "name": "1.14.-.-",
                    "type": "synonym"
                },
                {
                    "name": "CG6816-PB",
                    "type": "synonym"
                },
                {
                    "name": "CYPXVIIIA1",
                    "type": "synonym"
                },
                {
                    "name": "Cyp18a1-PB",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450 17C",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450 18a1, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450-18a1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cyp18a1",
                    "type": "recommended"
                },
                {
                    "name": "181H6T",
                    "type": "synonym"
                },
                {
                    "name": "18a1",
                    "type": "synonym"
                },
                {
                    "name": "26-hyd",
                    "type": "synonym"
                },
                {
                    "name": "CG6816",
                    "type": "synonym"
                },
                {
                    "name": "CT20826",
                    "type": "synonym"
                },
                {
                    "name": "CYP18A1-Dm",
                    "type": "synonym"
                },
                {
                    "name": "CYP18A1",
                    "type": "synonym"
                },
                {
                    "name": "CYP18",
                    "type": "synonym"
                },
                {
                    "name": "Cyp18A1",
                    "type": "synonym"
                },
                {
                    "name": "Cyp18a1",
                    "type": "synonym"
                },
                {
                    "name": "Cyp18",
                    "type": "synonym"
                },
                {
                    "name": "Cyt-P450-17C",
                    "type": "synonym"
                },
                {
                    "name": "CytP450",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6816",
                    "type": "synonym"
                },
                {
                    "name": "ESTS:181H6T",
                    "type": "synonym"
                },
                {
                    "name": "Eig17-1",
                    "type": "synonym"
                },
                {
                    "name": "P-450",
                    "type": "synonym"
                },
                {
                    "name": "P450",
                    "type": "synonym"
                },
                {
                    "name": "cyp18a1",
                    "type": "synonym"
                },
                {
                    "name": "cyp18",
                    "type": "synonym"
                }
            ],
            "record_id": "Q95078-1",
            "evidence": [
                {
                    "id": "0110808",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110808"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110808"
}