{
    "disease_id": "DOID:0070457",
    "recommended_name": {
        "id": "DOID:0070457",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070457",
        "name": "hereditary spastic paraplegia 88",
        "description": "A hereditary spastic paraplegia characterized by infantile or early childhood onset of lower limb spasticity that slowly progresses with variable severity that has_material_basis_in heterozygous mutation in the KPNA3 gene on chromosome 13q14.2."
    },
    "synonyms": [
        {
            "id": "DOID:0070457",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070457",
            "name": "SPG88",
            "description": ""
        },
        {
            "id": "DOID:0070457",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070457",
            "name": "autosomal dominant spastic paraplegia 88",
            "description": ""
        },
        {
            "id": "MONDO:0859309",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859309",
            "name": "spastic paraplegia 88, autosomal dominant",
            "description": ""
        },
        {
            "id": "MIM:620106",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620106",
            "name": "Spastic paraplegia 88, autosomal dominant",
            "description": "Spastic paraplegia 88, autosomal dominant"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070457"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070457",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070457",
            "categories": []
        },
        {
            "id": "MONDO:0859309",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859309",
            "categories": []
        },
        {
            "id": "MIM:620106",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620106",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8JFT7-1",
            "uniprot_ac": "Q8JFT7",
            "uniprot_id": "Q8JFT7_DANRE",
            "refseq_ac": "NP_958477",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Importin subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "importin subunit alpha-4",
                    "type": "synonym"
                },
                {
                    "name": "karyopherin (importin) alpha 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "kpna3",
                    "type": "recommended"
                },
                {
                    "name": "kpna3",
                    "type": "synonym"
                },
                {
                    "name": "si:dz79f24.2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8JFT7-1",
            "evidence": [
                {
                    "id": "0070457",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070457"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O35344-1",
            "uniprot_ac": "O35344",
            "uniprot_id": "IMA4_MOUSE",
            "refseq_ac": "NP_032492",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Importin subunit alpha-4",
                    "type": "recommended"
                },
                {
                    "name": "Importin alpha Q2",
                    "type": "synonym"
                },
                {
                    "name": "Karyopherin subunit alpha-3",
                    "type": "synonym"
                },
                {
                    "name": "Qip2",
                    "type": "synonym"
                },
                {
                    "name": "importin alpha 4",
                    "type": "synonym"
                },
                {
                    "name": "importin alpha Q2",
                    "type": "synonym"
                },
                {
                    "name": "importin subunit alpha-3",
                    "type": "synonym"
                },
                {
                    "name": "importin subunit alpha-4",
                    "type": "synonym"
                },
                {
                    "name": "karyopherin (importin) alpha 3",
                    "type": "synonym"
                },
                {
                    "name": "qip2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kpna3",
                    "type": "recommended"
                },
                {
                    "name": "IPOA4",
                    "type": "synonym"
                },
                {
                    "name": "Kpna3",
                    "type": "synonym"
                },
                {
                    "name": "Qip2",
                    "type": "synonym"
                }
            ],
            "record_id": "O35344-1",
            "evidence": [
                {
                    "id": "0070457",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070457"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O00505-1",
            "uniprot_ac": "O00505",
            "uniprot_id": "IMA4_HUMAN",
            "refseq_ac": "NP_002258",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Importin subunit alpha-4",
                    "type": "recommended"
                },
                {
                    "name": "Importin alpha Q2",
                    "type": "synonym"
                },
                {
                    "name": "Karyopherin subunit alpha-3",
                    "type": "synonym"
                },
                {
                    "name": "Qip2",
                    "type": "synonym"
                },
                {
                    "name": "SRP1-gamma",
                    "type": "synonym"
                },
                {
                    "name": "importin alpha 4",
                    "type": "synonym"
                },
                {
                    "name": "importin alpha Q2",
                    "type": "synonym"
                },
                {
                    "name": "importin alpha-3",
                    "type": "synonym"
                },
                {
                    "name": "importin subunit alpha-3",
                    "type": "synonym"
                },
                {
                    "name": "importin subunit alpha-4",
                    "type": "synonym"
                },
                {
                    "name": "karyopherin alpha 3 (importin alpha 4)",
                    "type": "synonym"
                },
                {
                    "name": "qip2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KPNA3",
                    "type": "recommended"
                },
                {
                    "name": "IPOA4",
                    "type": "synonym"
                },
                {
                    "name": "KPNA3",
                    "type": "synonym"
                },
                {
                    "name": "QIP2",
                    "type": "synonym"
                },
                {
                    "name": "SPG88",
                    "type": "synonym"
                },
                {
                    "name": "SRP1gamma",
                    "type": "synonym"
                },
                {
                    "name": "SRP1",
                    "type": "synonym"
                },
                {
                    "name": "SRP4",
                    "type": "synonym"
                },
                {
                    "name": "hSRP1",
                    "type": "synonym"
                }
            ],
            "record_id": "O00505-1",
            "evidence": [
                {
                    "id": "620106",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620106"
                },
                {
                    "id": "0070457",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070457"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q02821-1",
            "uniprot_ac": "Q02821",
            "uniprot_id": "IMA1_YEAST",
            "refseq_ac": "NP_014210",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Importin subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "Karyopherin subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "Karyopherin-60",
                    "type": "synonym"
                },
                {
                    "name": "Serine-rich RNA polymerase I suppressor protein",
                    "type": "synonym"
                },
                {
                    "name": "karyopherin alpha",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SRP1",
                    "type": "recommended"
                },
                {
                    "name": "KAP60",
                    "type": "synonym"
                },
                {
                    "name": "N1606",
                    "type": "synonym"
                },
                {
                    "name": "SCM1",
                    "type": "synonym"
                },
                {
                    "name": "SRP1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q02821-1",
            "evidence": [
                {
                    "id": "0070457",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070457"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I5ZWC6-1",
            "uniprot_ac": "A0A8I5ZWC6",
            "uniprot_id": "A0A8I5ZWC6_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": "Importin subunit alpha",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Kpna3",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A8I5ZWC6-1",
            "evidence": [
                {
                    "id": "0070457",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070457"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9V455-1",
            "uniprot_ac": "Q9V455",
            "uniprot_id": "Q9V455_DROME",
            "refseq_ac": "NP_001163572",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Importin subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "CG9423-PD",
                    "type": "synonym"
                },
                {
                    "name": "Importin-alpha3",
                    "type": "synonym"
                },
                {
                    "name": "Kap-alpha3-PD",
                    "type": "synonym"
                },
                {
                    "name": "dImportin-alpha3",
                    "type": "synonym"
                },
                {
                    "name": "importin a3",
                    "type": "synonym"
                },
                {
                    "name": "importin alpha-3",
                    "type": "synonym"
                },
                {
                    "name": "importin alpha3",
                    "type": "synonym"
                },
                {
                    "name": "importin alpha",
                    "type": "synonym"
                },
                {
                    "name": "karyopherin a3",
                    "type": "synonym"
                },
                {
                    "name": "karyopherin alpha3, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "karyopherin alpha3",
                    "type": "synonym"
                },
                {
                    "name": "karyopherin alpha4",
                    "type": "synonym"
                },
                {
                    "name": "karyopherin-alpha3",
                    "type": "synonym"
                },
                {
                    "name": "karyopherin-alpha4",
                    "type": "synonym"
                },
                {
                    "name": "karyopherin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kap-alpha3",
                    "type": "recommended"
                },
                {
                    "name": "0335/13",
                    "type": "synonym"
                },
                {
                    "name": "13",
                    "type": "synonym"
                },
                {
                    "name": "CG9423",
                    "type": "synonym"
                },
                {
                    "name": "Dalpha3",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9423",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG9423",
                    "type": "synonym"
                },
                {
                    "name": "IMPalpha3",
                    "type": "synonym"
                },
                {
                    "name": "Imp alpha-3",
                    "type": "synonym"
                },
                {
                    "name": "Imp alpha3",
                    "type": "synonym"
                },
                {
                    "name": "Imp-alpha3",
                    "type": "synonym"
                },
                {
                    "name": "Impalpha3",
                    "type": "synonym"
                },
                {
                    "name": "KAP-ALPHA3",
                    "type": "synonym"
                },
                {
                    "name": "Kap alpha3",
                    "type": "synonym"
                },
                {
                    "name": "Kap-?3",
                    "type": "synonym"
                },
                {
                    "name": "Kap-alpha-3",
                    "type": "synonym"
                },
                {
                    "name": "Kap-alpha3",
                    "type": "synonym"
                },
                {
                    "name": "Kapalpha3",
                    "type": "synonym"
                },
                {
                    "name": "Kpn-alpha3",
                    "type": "synonym"
                },
                {
                    "name": "Kpna3",
                    "type": "synonym"
                },
                {
                    "name": "alphaKap3",
                    "type": "synonym"
                },
                {
                    "name": "dKap-alpha3",
                    "type": "synonym"
                },
                {
                    "name": "dimpalpha3",
                    "type": "synonym"
                },
                {
                    "name": "imp alpha3",
                    "type": "synonym"
                },
                {
                    "name": "imp-a3",
                    "type": "synonym"
                },
                {
                    "name": "imp-alpha3",
                    "type": "synonym"
                },
                {
                    "name": "impalpha3",
                    "type": "synonym"
                },
                {
                    "name": "kpn-alpha3",
                    "type": "synonym"
                },
                {
                    "name": "l(3)S033513",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9V455-1",
            "evidence": [
                {
                    "id": "0070457",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070457"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070457"
}