{
    "disease_id": "DOID:0110773",
    "recommended_name": {
        "id": "DOID:0110773",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110773",
        "name": "hereditary spastic paraplegia 2",
        "description": "A hereditary spastic paraplegia that has_material_basis_in mutation in the PLP1 gene on chromosome Xq22.2."
    },
    "synonyms": [
        {
            "id": "DOID:0110773",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110773",
            "name": "SPG2",
            "description": ""
        },
        {
            "id": "DOID:0110773",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110773",
            "name": "X-linked spastic paraplegia 2",
            "description": ""
        },
        {
            "id": "DOID:0110773",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110773",
            "name": "spastic paraplegia type 2",
            "description": ""
        },
        {
            "id": "MONDO:0010733",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010733",
            "name": "hereditary spastic paraplegia 2",
            "description": "Spastic paraplegia type 2 (SPG2) is an X-linked leukodystrophy characterized primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred to as complicated SPG."
        },
        {
            "id": "MONDO:0010733",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010733",
            "name": "PLP1 hereditary spastic paraplegia",
            "description": ""
        },
        {
            "id": "MONDO:0010733",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010733",
            "name": "SPG2",
            "description": ""
        },
        {
            "id": "MONDO:0010733",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010733",
            "name": "X-linked spastic paraplegia type 2",
            "description": ""
        },
        {
            "id": "MONDO:0010733",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010733",
            "name": "hereditary spastic paraplegia caused by mutation in PLP1",
            "description": ""
        },
        {
            "id": "MONDO:0010733",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010733",
            "name": "hereditary spastic paraplegia type 2",
            "description": ""
        },
        {
            "id": "MONDO:0010733",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010733",
            "name": "spastic gait type 2",
            "description": ""
        },
        {
            "id": "MONDO:0010733",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010733",
            "name": "spastic paraparesis type 2",
            "description": ""
        },
        {
            "id": "MONDO:0010733",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010733",
            "name": "spastic paraplegia 2, X-linked, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010733",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010733",
            "name": "spastic paraplegia type 2",
            "description": ""
        },
        {
            "id": "MONDO:0010733",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010733",
            "name": "spastic paraplegia 2",
            "description": ""
        },
        {
            "id": "MONDO:0010733",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010733",
            "name": "spastic paraplegia 2, X-linked",
            "description": ""
        },
        {
            "id": "MIM:312920",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/312920",
            "name": "Spastic paraplegia 2, X-linked",
            "description": "Spastic paraplegia 2, X-linked"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110773"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110773",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110773",
            "categories": []
        },
        {
            "id": "MONDO:0010733",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010733",
            "categories": []
        },
        {
            "id": "MIM:312920",
            "database": "MIM",
            "url": "https://www.omim.org/entry/312920",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M2BCB3-1",
            "uniprot_ac": "A0A8M2BCB3",
            "uniprot_id": "A0A8M2BCB3_DANRE",
            "refseq_ac": "XP_005165179",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Proteolipid protein 1b isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "proteolipid protein 1b isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "plp1b",
                    "type": "recommended"
                },
                {
                    "name": "DMalpha2a",
                    "type": "synonym"
                },
                {
                    "name": "DMalpha2b",
                    "type": "synonym"
                },
                {
                    "name": "DMalpha2c",
                    "type": "synonym"
                },
                {
                    "name": "fv76c02",
                    "type": "synonym"
                },
                {
                    "name": "plp1b",
                    "type": "synonym"
                },
                {
                    "name": "wu:fv76c02",
                    "type": "synonym"
                },
                {
                    "name": "zgc:91786",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2BCB3-1",
            "evidence": [
                {
                    "id": "0110773",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110773"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P60202-1",
            "uniprot_ac": "P60202",
            "uniprot_id": "MYPR_MOUSE",
            "refseq_ac": "NP_001277490",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myelin proteolipid protein",
                    "type": "recommended"
                },
                {
                    "name": "Lipophilin",
                    "type": "synonym"
                },
                {
                    "name": "PLP",
                    "type": "synonym"
                },
                {
                    "name": "lipophilin",
                    "type": "synonym"
                },
                {
                    "name": "myelin proteolipid protein isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "myelin proteolipid protein",
                    "type": "synonym"
                },
                {
                    "name": "myelin synthesis deficiency",
                    "type": "synonym"
                },
                {
                    "name": "rump shaker",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Plp1",
                    "type": "recommended"
                },
                {
                    "name": "DM20",
                    "type": "synonym"
                },
                {
                    "name": "Plp1",
                    "type": "synonym"
                },
                {
                    "name": "Plp",
                    "type": "synonym"
                },
                {
                    "name": "jimpy",
                    "type": "synonym"
                },
                {
                    "name": "jp",
                    "type": "synonym"
                },
                {
                    "name": "msd",
                    "type": "synonym"
                },
                {
                    "name": "rsh",
                    "type": "synonym"
                }
            ],
            "record_id": "P60202-1",
            "evidence": [
                {
                    "id": "0110773",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110773"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P60201-1",
            "uniprot_ac": "P60201",
            "uniprot_id": "MYPR_HUMAN",
            "refseq_ac": "NP_000524",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myelin proteolipid protein",
                    "type": "recommended"
                },
                {
                    "name": "Lipophilin",
                    "type": "synonym"
                },
                {
                    "name": "PLP",
                    "type": "synonym"
                },
                {
                    "name": "lipophilin",
                    "type": "synonym"
                },
                {
                    "name": "major myelin proteolipid protein",
                    "type": "synonym"
                },
                {
                    "name": "myelin proteolipid protein isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "myelin proteolipid protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PLP1",
                    "type": "recommended"
                },
                {
                    "name": "GPM6C",
                    "type": "synonym"
                },
                {
                    "name": "HLD1",
                    "type": "synonym"
                },
                {
                    "name": "MMPL",
                    "type": "synonym"
                },
                {
                    "name": "PLP/DM20",
                    "type": "synonym"
                },
                {
                    "name": "PLP1",
                    "type": "synonym"
                },
                {
                    "name": "PLP",
                    "type": "synonym"
                },
                {
                    "name": "PMD",
                    "type": "synonym"
                },
                {
                    "name": "SPG2",
                    "type": "synonym"
                }
            ],
            "record_id": "P60201-1",
            "evidence": [
                {
                    "id": "312920",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/312920"
                },
                {
                    "id": "0110773",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110773"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P60203-1",
            "uniprot_ac": "P60203",
            "uniprot_id": "MYPR_RAT",
            "refseq_ac": "NP_112252",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myelin proteolipid protein",
                    "type": "recommended"
                },
                {
                    "name": "Lipophilin",
                    "type": "synonym"
                },
                {
                    "name": "PLP",
                    "type": "synonym"
                },
                {
                    "name": "Proteolipid protein (Pelizaeus-Merzbacher disease, spastic paraplegia 2, uncomplicated)",
                    "type": "synonym"
                },
                {
                    "name": "lipophilin",
                    "type": "synonym"
                },
                {
                    "name": "myelin proteolipid protein",
                    "type": "synonym"
                },
                {
                    "name": "proteolipid protein (myelin) 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Plp1",
                    "type": "recommended"
                },
                {
                    "name": "Plp1",
                    "type": "synonym"
                },
                {
                    "name": "Plp",
                    "type": "synonym"
                }
            ],
            "record_id": "P60203-1",
            "evidence": [
                {
                    "id": "0110773",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110773"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "M9PGC0-1",
            "uniprot_ac": "M9PGC0",
            "uniprot_id": "M9PGC0_DROME",
            "refseq_ac": "NP_001262166",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG7540-PF",
                    "type": "synonym"
                },
                {
                    "name": "M6, isoform F",
                    "type": "synonym"
                },
                {
                    "name": "M6-PF",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "M6",
                    "type": "recommended"
                },
                {
                    "name": "CG7540",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7540",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG7540",
                    "type": "synonym"
                },
                {
                    "name": "M6",
                    "type": "synonym"
                },
                {
                    "name": "dM6a",
                    "type": "synonym"
                },
                {
                    "name": "m6",
                    "type": "synonym"
                }
            ],
            "record_id": "M9PGC0-1",
            "evidence": [
                {
                    "id": "0110773",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110773"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P13929-1",
            "uniprot_ac": "P13929",
            "uniprot_id": "ENOB_HUMAN",
            "refseq_ac": "NP_001180432",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Beta-enolase",
                    "type": "recommended"
                },
                {
                    "name": "2-phospho-D-glycerate hydro-lyase",
                    "type": "synonym"
                },
                {
                    "name": "2-phospho-D-glycerate hydrolyase",
                    "type": "synonym"
                },
                {
                    "name": "4.2.1.11",
                    "type": "synonym"
                },
                {
                    "name": "Enolase 3",
                    "type": "synonym"
                },
                {
                    "name": "MSE",
                    "type": "synonym"
                },
                {
                    "name": "Muscle-specific enolase",
                    "type": "synonym"
                },
                {
                    "name": "Skeletal muscle enolase",
                    "type": "synonym"
                },
                {
                    "name": "beta-enolase isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "enolase 3 (beta, muscle)",
                    "type": "synonym"
                },
                {
                    "name": "muscle enriched enolase",
                    "type": "synonym"
                },
                {
                    "name": "muscle-specific enolase",
                    "type": "synonym"
                },
                {
                    "name": "skeletal muscle enolase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ENO3",
                    "type": "recommended"
                },
                {
                    "name": "ENO3",
                    "type": "synonym"
                },
                {
                    "name": "GSD13",
                    "type": "synonym"
                },
                {
                    "name": "MSE",
                    "type": "synonym"
                }
            ],
            "record_id": "P13929-1",
            "evidence": [
                {
                    "id": "0110773",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110773"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110773"
}