{
    "disease_id": "DOID:0110797",
    "recommended_name": {
        "id": "DOID:0110797",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110797",
        "name": "hereditary spastic paraplegia 45",
        "description": "A hereditary spastic paraplegia that has_material_basis_in mutation in the NT5C2 gene on chromosome 10q24."
    },
    "synonyms": [
        {
            "id": "DOID:0110797",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110797",
            "name": "SPG45",
            "description": ""
        },
        {
            "id": "DOID:0110797",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110797",
            "name": "SPG65",
            "description": ""
        },
        {
            "id": "DOID:0110797",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110797",
            "name": "autosomal recessive spastic paraplegia 45",
            "description": ""
        },
        {
            "id": "DOID:0110797",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110797",
            "name": "autosomal recessive spastic paraplegia type 45",
            "description": ""
        },
        {
            "id": "DOID:0110797",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110797",
            "name": "autosomal recessive spastic paraplegia type 65",
            "description": ""
        },
        {
            "id": "MONDO:0013165",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013165",
            "name": "hereditary spastic paraplegia 45",
            "description": "Autosomal recessive spastic paraplegia type 45 is a rare, pure or complex form of hereditary spastic paraplegia characterized by onset in infancy of progressive lower limb spasticity, abnormal gait, increased deep tendon reflexes and extensor plantar responses, that may be associated with intellectual disability. Additional signs, such as contractures in the lower limbs, amyotrophy, clubfoot and optic atrophy, have also been reported."
        },
        {
            "id": "MONDO:0013165",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013165",
            "name": "NT5C2 autosomal recessive complex spastic paraplegia",
            "description": ""
        },
        {
            "id": "MONDO:0013165",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013165",
            "name": "SPG45",
            "description": ""
        },
        {
            "id": "MONDO:0013165",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013165",
            "name": "SPG65",
            "description": ""
        },
        {
            "id": "MONDO:0013165",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013165",
            "name": "autosomal recessive complex spastic paraplegia caused by mutation in NT5C2",
            "description": ""
        },
        {
            "id": "MONDO:0013165",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013165",
            "name": "autosomal recessive spastic paraplegia type 45",
            "description": ""
        },
        {
            "id": "MONDO:0013165",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013165",
            "name": "autosomal recessive spastic paraplegia type 65",
            "description": ""
        },
        {
            "id": "MONDO:0013165",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013165",
            "name": "hereditary spastic paraplegia type 45",
            "description": ""
        },
        {
            "id": "MONDO:0013165",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013165",
            "name": "spastic paraplegia 45, autosomal recessive",
            "description": ""
        },
        {
            "id": "MIM:613162",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613162",
            "name": "Spastic paraplegia 45, autosomal recessive",
            "description": "Spastic paraplegia 45, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110797"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110797",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110797",
            "categories": []
        },
        {
            "id": "MONDO:0013165",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013165",
            "categories": []
        },
        {
            "id": "MIM:613162",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613162",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9PH62-1",
            "uniprot_ac": "A0A8M9PH62",
            "uniprot_id": "A0A8M9PH62_DANRE",
            "refseq_ac": "XP_021330667",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytosolic purine 5'-nucleotidase isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "cytosolic purine 5'-nucleotidase isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "nt5c2b",
                    "type": "recommended"
                },
                {
                    "name": "im:7162273",
                    "type": "synonym"
                },
                {
                    "name": "nt5c2b",
                    "type": "synonym"
                },
                {
                    "name": "zgc:153651",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9PH62-1",
            "evidence": [
                {
                    "id": "0110797",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110797"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E7FC21-1",
            "uniprot_ac": "E7FC21",
            "uniprot_id": "E7FC21_DANRE",
            "refseq_ac": "NP_001315429",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytosolic purine 5'-nucleotidase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.1.77",
                    "type": "synonym"
                },
                {
                    "name": "3.1.3.5",
                    "type": "synonym"
                },
                {
                    "name": "3.1.3.99",
                    "type": "synonym"
                },
                {
                    "name": "5'-nucleotidase, cytosolic IIa",
                    "type": "synonym"
                },
                {
                    "name": "5'-nucleotidase, cytosolic II",
                    "type": "synonym"
                },
                {
                    "name": "Cytosolic nucleoside phosphotransferase 5'N",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "nt5c2a",
                    "type": "recommended"
                },
                {
                    "name": "fc36f11",
                    "type": "synonym"
                },
                {
                    "name": "nt5c2a",
                    "type": "synonym"
                },
                {
                    "name": "nt5c2",
                    "type": "synonym"
                },
                {
                    "name": "sb:eu835",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc36f11",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc45b10",
                    "type": "synonym"
                }
            ],
            "record_id": "E7FC21-1",
            "evidence": [
                {
                    "id": "0110797",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110797"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3V1L4-1",
            "uniprot_ac": "Q3V1L4",
            "uniprot_id": "5NTC_MOUSE",
            "refseq_ac": "NP_001157835",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytosolic purine 5'-nucleotidase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.1.77",
                    "type": "synonym"
                },
                {
                    "name": "3.1.3.5",
                    "type": "synonym"
                },
                {
                    "name": "3.1.3.99",
                    "type": "synonym"
                },
                {
                    "name": "Cytosolic nucleoside phosphotransferase 5'N",
                    "type": "synonym"
                },
                {
                    "name": "cytosolic 5'-nucleotidase II",
                    "type": "synonym"
                },
                {
                    "name": "cytosolic nucleoside phosphotransferase 5'N",
                    "type": "synonym"
                },
                {
                    "name": "cytosolic purine 5'-nucleotidase isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "cytosolic purine 5'-nucleotidase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nt5c2",
                    "type": "recommended"
                },
                {
                    "name": "2010002I23Rik",
                    "type": "synonym"
                },
                {
                    "name": "CnII",
                    "type": "synonym"
                },
                {
                    "name": "Gm9751",
                    "type": "synonym"
                },
                {
                    "name": "Gmp",
                    "type": "synonym"
                },
                {
                    "name": "Nt5b",
                    "type": "synonym"
                },
                {
                    "name": "Nt5c2",
                    "type": "synonym"
                },
                {
                    "name": "Pnt5",
                    "type": "synonym"
                },
                {
                    "name": "cN-II",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3V1L4-1",
            "evidence": [
                {
                    "id": "0110797",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110797"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P49902-1",
            "uniprot_ac": "P49902",
            "uniprot_id": "5NTC_HUMAN",
            "refseq_ac": "NP_001127845",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytosolic purine 5'-nucleotidase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.1.77",
                    "type": "synonym"
                },
                {
                    "name": "3.1.3.5",
                    "type": "synonym"
                },
                {
                    "name": "3.1.3.99",
                    "type": "synonym"
                },
                {
                    "name": "5'-nucleotidase (purine), cytosolic type B",
                    "type": "synonym"
                },
                {
                    "name": "Cytosolic 5'-nucleotidase II",
                    "type": "synonym"
                },
                {
                    "name": "Cytosolic IMP/GMP-specific 5'-nucleotidase",
                    "type": "synonym"
                },
                {
                    "name": "Cytosolic nucleoside phosphotransferase 5'N",
                    "type": "synonym"
                },
                {
                    "name": "High Km 5'-nucleotidase",
                    "type": "synonym"
                },
                {
                    "name": "IMP-specific 5'-NT",
                    "type": "synonym"
                },
                {
                    "name": "cN-II",
                    "type": "synonym"
                },
                {
                    "name": "cytosolic IMP/GMP-specific 5'-nucleotidase",
                    "type": "synonym"
                },
                {
                    "name": "cytosolic nucleoside phosphotransferase 5'N",
                    "type": "synonym"
                },
                {
                    "name": "cytosolic purine 5'-nucleotidase isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                },
                {
                    "name": "high Km 5'-nucleotidase",
                    "type": "synonym"
                },
                {
                    "name": "spastic paraplegia 45 (autosomal recessive)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NT5C2",
                    "type": "recommended"
                },
                {
                    "name": "GMP",
                    "type": "synonym"
                },
                {
                    "name": "NT5B",
                    "type": "synonym"
                },
                {
                    "name": "NT5C2",
                    "type": "synonym"
                },
                {
                    "name": "NT5CP",
                    "type": "synonym"
                },
                {
                    "name": "PNT5",
                    "type": "synonym"
                },
                {
                    "name": "SPG45",
                    "type": "synonym"
                },
                {
                    "name": "SPG65",
                    "type": "synonym"
                },
                {
                    "name": "cN-II",
                    "type": "synonym"
                }
            ],
            "record_id": "P49902-1",
            "evidence": [
                {
                    "id": "613162",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613162"
                },
                {
                    "id": "0110797",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110797"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZMY7-1",
            "uniprot_ac": "D3ZMY7",
            "uniprot_id": "5NTC_RAT",
            "refseq_ac": "NP_001388640",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytosolic purine 5'-nucleotidase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.1.77",
                    "type": "synonym"
                },
                {
                    "name": "3.1.3.5",
                    "type": "synonym"
                },
                {
                    "name": "3.1.3.99",
                    "type": "synonym"
                },
                {
                    "name": "Cytosolic nucleoside phosphotransferase 5'N",
                    "type": "synonym"
                },
                {
                    "name": "cytosolic nucleoside phosphotransferase 5'N",
                    "type": "synonym"
                },
                {
                    "name": "cytosolic purine 5'-nucleotidase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nt5c2",
                    "type": "recommended"
                },
                {
                    "name": "Nt5c2",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZMY7-1",
            "evidence": [
                {
                    "id": "0110797",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110797"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VWV5-1",
            "uniprot_ac": "Q9VWV5",
            "uniprot_id": "Q9VWV5_DROME",
            "refseq_ac": "NP_728163",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "3.1.3.5",
                    "type": "synonym"
                },
                {
                    "name": "5' nucleotidase B, isoform G",
                    "type": "synonym"
                },
                {
                    "name": "5' nucleotidase B, isoform H",
                    "type": "synonym"
                },
                {
                    "name": "CG32549-PH",
                    "type": "synonym"
                },
                {
                    "name": "Nt5b-PH",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nt5b",
                    "type": "recommended"
                },
                {
                    "name": "24643014",
                    "type": "synonym"
                },
                {
                    "name": "24643016",
                    "type": "synonym"
                },
                {
                    "name": "45555989",
                    "type": "synonym"
                },
                {
                    "name": "45555998",
                    "type": "synonym"
                },
                {
                    "name": "CG32549",
                    "type": "synonym"
                },
                {
                    "name": "CG6247",
                    "type": "synonym"
                },
                {
                    "name": "CG6267",
                    "type": "synonym"
                },
                {
                    "name": "CG6278",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG32549",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG32549",
                    "type": "synonym"
                },
                {
                    "name": "Nt5b",
                    "type": "synonym"
                },
                {
                    "name": "dNT5B",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VWV5-1",
            "evidence": [
                {
                    "id": "0110797",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110797"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110797"
}