{
    "disease_id": "DOID:0112349",
    "recommended_name": {
        "id": "DOID:0112349",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0112349",
        "name": "hereditary spastic paraplegia 81",
        "description": "A hereditary spastic paraplegia characterized by onset in infancy, delayed motor development, progressive spasticity, and other neurologic impairments that has_material_basis_in homozygous or compound heterozygous mutation in the SELENOI gene on chromosome 2p23.3."
    },
    "synonyms": [
        {
            "id": "DOID:0112349",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112349",
            "name": "SPG81",
            "description": ""
        },
        {
            "id": "DOID:0112349",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112349",
            "name": "autosomal recessive complex SPG due to Kennedy pathway dysfunction",
            "description": ""
        },
        {
            "id": "DOID:0112349",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112349",
            "name": "spastic paraplegia 81 autosomal recessive",
            "description": ""
        },
        {
            "id": "DOID:0112349",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112349",
            "name": "autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction",
            "description": ""
        },
        {
            "id": "MONDO:0032905",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032905",
            "name": "spastic paraplegia 81, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0032905",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032905",
            "name": "SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE",
            "description": ""
        },
        {
            "id": "MONDO:0032905",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032905",
            "name": "SPG81",
            "description": ""
        },
        {
            "id": "MIM:618768",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618768",
            "name": "Spastic paraplegia 81, autosomal recessive",
            "description": "Spastic paraplegia 81, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112349"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112349",
            "database": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112349",
            "categories": []
        },
        {
            "id": "MONDO:0032905",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032905",
            "categories": []
        },
        {
            "id": "MIM:618768",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618768",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8T0S3-1",
            "uniprot_ac": "Q8T0S3",
            "uniprot_id": "Q8T0S3_DROME",
            "refseq_ac": "NP_001285718",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG7149-PC",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "GH11618p",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform C",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG7149",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "dCCS3",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "CG7149",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "CG7149",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7149",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG7149",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "cpt; dCCS3; Dmel\\CG7149",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "cpt",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "dCCS3",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0112349",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112349"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VIU4-1",
            "uniprot_ac": "Q9VIU4",
            "uniprot_id": "Q9VIU4_DROME",
            "refseq_ac": "NP_788074",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG33116-PA",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "FI05338p",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG33116",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "CG10355; dCCS1; Dmel\\CG33116",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "CG10355",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "CG33116-RA",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "CG33116",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "CG33116",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG33116",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "dCCS1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0112349",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112349"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q80TA1-1",
            "uniprot_ac": "Q80TA1",
            "uniprot_id": "EPT1_MOUSE",
            "refseq_ac": "NP_081928",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ethanolaminephosphotransferase 1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "2.7.8.1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "SelI",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Selenoprotein I",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "ethanolaminephosphotransferase 1 (CDP-ethanolamine-specific)",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "ethanolaminephosphotransferase 1",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Selenoi",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "4933402G07Rik; D5Wsu178e; Ept1; mKIAA1724; SELI",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "D5Wsu178e",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Ept1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa1724",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Selenoi",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0112349",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112349"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P22140-1",
            "uniprot_ac": "P22140",
            "uniprot_id": "EPT1_YEAST",
            "refseq_ac": "NP_011991",
            "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": "Choline/ethanolaminephosphotransferase 1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "2.7.8.1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "2.7.8.2",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Aminoalcohol phosphotransferase EPT1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "ETHPT",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Ethanolaminephosphotransferase 1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "bifunctional diacylglycerol cholinephosphotransferase/ethanolaminephosphotransferase",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "EPT1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "EPT1",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0112349",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112349"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P17898-1",
            "uniprot_ac": "P17898",
            "uniprot_id": "CPT1_YEAST",
            "refseq_ac": "NP_014269",
            "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": "Cholinephosphotransferase 1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "2.7.8.2",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Aminoalcohol phosphotransferase CPT1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "CHOPT",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Diacylglycerol cholinephosphotransferase 1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Sn-1,2-diacylglycerol cholinephosphotransferase",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "diacylglycerol cholinephosphotransferase",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CPT1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "CPT1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "N1218",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "N1867",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0112349",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112349"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9C0D9-1",
            "uniprot_ac": "Q9C0D9",
            "uniprot_id": "EPT1_HUMAN",
            "refseq_ac": "NP_277040",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ethanolaminephosphotransferase 1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "2.7.8.1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "SelI",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Selenoprotein I",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "ethanolaminephosphotransferase 1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "hEPT1; ethanolaminephosphotransferase 1 (CDP-ethanolamine-specific)",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "hEPT1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SELENOI",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "EPT1; SELI; SEPI; SPG81",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "EPT1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1724",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "SELENOI",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "SELI",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0112349",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112349"
                },
                {
                    "id": "618768",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618768"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M1PAB3-1",
            "uniprot_ac": "A0A8M1PAB3",
            "uniprot_id": "A0A8M1PAB3_DANRE",
            "refseq_ac": "NP_001316366",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "2.7.8.1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Ethanolaminephosphotransferase 1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "ethanolaminephosphotransferase 1",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "selenoi",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "ept1; seli; si:ch211-197l9.4",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "ept1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "selenoi",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "seli",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-197l9.4",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0112349",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112349"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B4F7D7-1",
            "uniprot_ac": "B4F7D7",
            "uniprot_id": "B4F7D7_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Selenoprotein I",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Selenoi",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Ept1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0112349",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112349"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112349"
}