{
    "disease_id": "DOID:0070645",
    "recommended_name": {
        "id": "DOID:0070645",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070645",
        "name": "hereditary spastic paraplegia 93",
        "description": "A hereditary spastic paraplegia that has_material_basis_in homozygous or compound heterozygous mutation in the NFU1 gene on chromosome 2p13."
    },
    "synonyms": [
        {
            "id": "DOID:0070645",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070645",
            "name": "autosomal recessive spastic paraplegia 93",
            "description": ""
        },
        {
            "id": "MONDO:0975796",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0975796",
            "name": "spastic paraplegia 93, autosomal recessive",
            "description": ""
        },
        {
            "id": "MIM:620938",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620938",
            "name": "Spastic paraplegia 93, autosomal recessive",
            "description": "Spastic paraplegia 93, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070645"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070645",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070645",
            "categories": []
        },
        {
            "id": "MONDO:0975796",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0975796",
            "categories": []
        },
        {
            "id": "MIM:620938",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620938",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AC58G6J7-1",
            "uniprot_ac": "A0AC58G6J7",
            "uniprot_id": "A0AC58G6J7_DANRE",
            "refseq_ac": "XP_073765366",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "NFU1 iron-sulfur cluster scaffold homolog, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "HIRA-interacting protein 5",
                    "type": "synonym"
                },
                {
                    "name": "NFU1 iron-sulfur cluster scaffold homolog, mitochondrial isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "nfu1",
                    "type": "recommended"
                },
                {
                    "name": "hirip5",
                    "type": "synonym"
                },
                {
                    "name": "nfu1",
                    "type": "synonym"
                },
                {
                    "name": "zgc:109711",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58G6J7-1",
            "evidence": [
                {
                    "id": "0070645",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070645"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B8A6A3-1",
            "uniprot_ac": "B8A6A3",
            "uniprot_id": "B8A6A3_DANRE",
            "refseq_ac": "NP_001018093",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "NFU1 iron-sulfur cluster scaffold homolog, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "HIRA interacting protein",
                    "type": "synonym"
                },
                {
                    "name": "NFU1 iron-sulfur cluster scaffold homolog",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein LOC796111",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "zgc:110319",
                    "type": "recommended"
                },
                {
                    "name": "zgc:110319",
                    "type": "synonym"
                }
            ],
            "record_id": "B8A6A3-1",
            "evidence": [
                {
                    "id": "0070645",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070645"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9QZ23-1",
            "uniprot_ac": "Q9QZ23",
            "uniprot_id": "NFU1_MOUSE",
            "refseq_ac": "NP_001164062",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "NFU1 iron-sulfur cluster scaffold homolog, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "HIRA-interacting protein 5",
                    "type": "synonym"
                },
                {
                    "name": "NFU1 iron-sulfur cluster scaffold homolog, mitochondrial isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "NFU1 iron-sulfur cluster scaffold homolog, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "histone cell cycle regulation defective interacting protein 5",
                    "type": "synonym"
                },
                {
                    "name": "mHIRIP5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nfu1",
                    "type": "recommended"
                },
                {
                    "name": "0610006G17Rik",
                    "type": "synonym"
                },
                {
                    "name": "CGI-33",
                    "type": "synonym"
                },
                {
                    "name": "Hirip5",
                    "type": "synonym"
                },
                {
                    "name": "Nfu1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9QZ23-1",
            "evidence": [
                {
                    "id": "0070645",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070645"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UMS0-1",
            "uniprot_ac": "Q9UMS0",
            "uniprot_id": "NFU1_HUMAN",
            "refseq_ac": "NP_001002755",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "NFU1 iron-sulfur cluster scaffold homolog, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "HIRA-interacting protein 5",
                    "type": "synonym"
                },
                {
                    "name": "NFU1 iron-sulfur cluster scaffold homolog, mitochondrial isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "NFU1 iron-sulfur cluster scaffold homolog, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "NifU-like C-terminal domain containing",
                    "type": "synonym"
                },
                {
                    "name": "iron-sulfur cluster scaffold protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NFU1",
                    "type": "recommended"
                },
                {
                    "name": "CGI-33",
                    "type": "synonym"
                },
                {
                    "name": "HIRIP5",
                    "type": "synonym"
                },
                {
                    "name": "HIRIP",
                    "type": "synonym"
                },
                {
                    "name": "MMDFS",
                    "type": "synonym"
                },
                {
                    "name": "MMDS1",
                    "type": "synonym"
                },
                {
                    "name": "NFU1",
                    "type": "synonym"
                },
                {
                    "name": "NIFUC",
                    "type": "synonym"
                },
                {
                    "name": "Nfu",
                    "type": "synonym"
                },
                {
                    "name": "NifU",
                    "type": "synonym"
                },
                {
                    "name": "SPG93",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UMS0-1",
            "evidence": [
                {
                    "id": "620938",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620938"
                },
                {
                    "id": "0070645",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070645"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P32860-1",
            "uniprot_ac": "P32860",
            "uniprot_id": "NFU1_YEAST",
            "refseq_ac": "NP_012884",
            "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": "NifU-like protein, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "Nfu1p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NFU1",
                    "type": "recommended"
                },
                {
                    "name": "NFU1",
                    "type": "synonym"
                },
                {
                    "name": "NUB1",
                    "type": "synonym"
                },
                {
                    "name": "YKL253",
                    "type": "synonym"
                }
            ],
            "record_id": "P32860-1",
            "evidence": [
                {
                    "id": "0070645",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070645"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZA85-1",
            "uniprot_ac": "D3ZA85",
            "uniprot_id": "D3ZA85_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "NFU1 iron-sulfur cluster scaffold homolog, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "HIRA-interacting protein 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nfu1",
                    "type": "recommended"
                }
            ],
            "record_id": "D3ZA85-1",
            "evidence": [
                {
                    "id": "0070645",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070645"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8SY96-1",
            "uniprot_ac": "Q8SY96",
            "uniprot_id": "NFU1_DROME",
            "refseq_ac": "NP_728443",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "NFU1 iron-sulfur cluster scaffold homolog, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "CG32857-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CG32500",
                    "type": "synonym"
                },
                {
                    "name": "CG32857",
                    "type": "synonym"
                },
                {
                    "name": "CG33502",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG32857",
                    "type": "synonym"
                },
                {
                    "name": "Nfu",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8SY96-1",
            "evidence": [
                {
                    "id": "0070645",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070645"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070645"
}