{
    "disease_id": "DOID:0110819",
    "recommended_name": {
        "id": "DOID:0110819",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110819",
        "name": "hereditary spastic paraplegia 74",
        "description": "A hereditary spastic paraplegia that has_material_basis_in mutation in the IBA57 gene on chromosome 1q42."
    },
    "synonyms": [
        {
            "id": "DOID:0110819",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110819",
            "name": "SPG74",
            "description": ""
        },
        {
            "id": "DOID:0110819",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110819",
            "name": "autosomal recessive spastic paraplegia 74",
            "description": ""
        },
        {
            "id": "MONDO:0014644",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014644",
            "name": "hereditary spastic paraplegia 74",
            "description": "Autosomal recessive spastic paraplegia type 74 is a rare, genetic, spastic paraplegia-optic atrophy-neuropathy-related (SPOAN-like) disorder characterized by childhood onset of mild to moderate spastic paraparesis which manifests with gait impairment that very slowly progresses into late adulthood, hyperactive patellar reflex and bilateral extensor plantar response, in association with optic atrophy and typical symptoms of peripheral neuropathy, including reduced or absent ankle reflexes, lower limb atrophy and distal sensory impairment. Reduced visual acuity and pes cavus are frequently reported."
        },
        {
            "id": "MONDO:0014644",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014644",
            "name": "IBA57 hereditary spastic paraplegia",
            "description": ""
        },
        {
            "id": "MONDO:0014644",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014644",
            "name": "SPG74",
            "description": ""
        },
        {
            "id": "MONDO:0014644",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014644",
            "name": "hereditary spastic paraplegia caused by mutation in IBA57",
            "description": ""
        },
        {
            "id": "MONDO:0014644",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014644",
            "name": "hereditary spastic paraplegia type 74",
            "description": ""
        },
        {
            "id": "MONDO:0014644",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014644",
            "name": "spastic paraplegia 74, autosomal recessive",
            "description": ""
        },
        {
            "id": "MIM:616451",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616451",
            "name": "Spastic paraplegia 74, autosomal recessive",
            "description": "Spastic paraplegia 74, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110819"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110819",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110819",
            "categories": []
        },
        {
            "id": "MONDO:0014644",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014644",
            "categories": []
        },
        {
            "id": "MIM:616451",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616451",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "B8JMH0-1",
            "uniprot_ac": "B8JMH0",
            "uniprot_id": "CAF17_DANRE",
            "refseq_ac": "NP_001070103",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Iron-sulfur cluster assembly factor IBA57, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "IBA57 homolog, iron-sulfur cluster assembly",
                    "type": "synonym"
                },
                {
                    "name": "IBA57, iron-sulfur cluster assembly homolog",
                    "type": "synonym"
                },
                {
                    "name": "Iron-sulfur cluster assembly factor homolog",
                    "type": "synonym"
                },
                {
                    "name": "Putative transferase C1orf69 homolog, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "iron-sulfur cluster assembly factor IBA57, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "iron-sulfur cluster assembly factor homolog",
                    "type": "synonym"
                },
                {
                    "name": "putative transferase CAF17 homolog, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "iba57",
                    "type": "recommended"
                },
                {
                    "name": "ch1073-162b20.1",
                    "type": "synonym"
                },
                {
                    "name": "iba57",
                    "type": "synonym"
                },
                {
                    "name": "zgc:153540",
                    "type": "synonym"
                }
            ],
            "record_id": "B8JMH0-1",
            "evidence": [
                {
                    "id": "0110819",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110819"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8CAK1-1",
            "uniprot_ac": "Q8CAK1",
            "uniprot_id": "CAF17_MOUSE",
            "refseq_ac": "NP_776146",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Iron-sulfur cluster assembly factor IBA57, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "IBA57, iron-sulfur cluster assembly homolog",
                    "type": "synonym"
                },
                {
                    "name": "Iron-sulfur cluster assembly factor homolog",
                    "type": "synonym"
                },
                {
                    "name": "iron-sulfur cluster assembly factor IBA57, mitochondrial isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "iron-sulfur cluster assembly factor IBA57, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "iron-sulfur cluster assembly factor homolog",
                    "type": "synonym"
                },
                {
                    "name": "putative transferase C1orf69 homolog, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "putative transferase CAF17 homolog, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Iba57",
                    "type": "recommended"
                },
                {
                    "name": "4930543L23Rik",
                    "type": "synonym"
                },
                {
                    "name": "A230051G13Rik",
                    "type": "synonym"
                },
                {
                    "name": "C1orf69",
                    "type": "synonym"
                },
                {
                    "name": "Iba57",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8CAK1-1",
            "evidence": [
                {
                    "id": "0110819",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110819"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5T440-1",
            "uniprot_ac": "Q5T440",
            "uniprot_id": "CAF17_HUMAN",
            "refseq_ac": "NP_001010867",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Iron-sulfur cluster assembly factor IBA57, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "IBA57 homolog, iron-sulfur cluster assembly",
                    "type": "synonym"
                },
                {
                    "name": "IBA57, iron-sulfur cluster assembly homolog",
                    "type": "synonym"
                },
                {
                    "name": "Iron-sulfur cluster assembly factor homolog",
                    "type": "synonym"
                },
                {
                    "name": "iron-sulfur cluster assembly factor IBA57, mitochondrial isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "iron-sulfur cluster assembly factor IBA57, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "iron-sulfur cluster assembly factor for biotin synthase- and aconitase-like mitochondrial proteins, with a mass of 57kDa",
                    "type": "synonym"
                },
                {
                    "name": "putative transferase C1orf69, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "putative transferase CAF17, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "IBA57",
                    "type": "recommended"
                },
                {
                    "name": "C1orf69",
                    "type": "synonym"
                },
                {
                    "name": "IBA57",
                    "type": "synonym"
                },
                {
                    "name": "MMDS3",
                    "type": "synonym"
                },
                {
                    "name": "SPG74",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5T440-1",
            "evidence": [
                {
                    "id": "616451",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616451"
                },
                {
                    "id": "0110819",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110819"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P47158-1",
            "uniprot_ac": "P47158",
            "uniprot_id": "CAF17_YEAST",
            "refseq_ac": "NP_012656",
            "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": "Iron-sulfur cluster assembly factor IBA57, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "57 kDa iron-sulfur cluster assembly factor for biotin synthase- and aconitase-like mitochondrial proteins",
                    "type": "synonym"
                },
                {
                    "name": "CCR4-associated factor 17",
                    "type": "synonym"
                },
                {
                    "name": "Iba57p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "IBA57",
                    "type": "recommended"
                },
                {
                    "name": "CAF17",
                    "type": "synonym"
                },
                {
                    "name": "IBA57",
                    "type": "synonym"
                },
                {
                    "name": "J2043",
                    "type": "synonym"
                }
            ],
            "record_id": "P47158-1",
            "evidence": [
                {
                    "id": "0110819",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110819"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4ADG2-1",
            "uniprot_ac": "D4ADG2",
            "uniprot_id": "D4ADG2_RAT",
            "refseq_ac": "NP_001102297",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Iron-sulfur cluster assembly factor IBA57, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "IBA57 homolog, iron-sulfur cluster assembly",
                    "type": "synonym"
                },
                {
                    "name": "IBA57 iron-sulfur cluster assembly",
                    "type": "synonym"
                },
                {
                    "name": "IBA57, iron-sulfur cluster assembly homolog",
                    "type": "synonym"
                },
                {
                    "name": "Iron-sulfur cluster assembly factor homolog",
                    "type": "synonym"
                },
                {
                    "name": "putative transferase CAF17 homolog, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "putative transferase CAF17, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Iba57",
                    "type": "recommended"
                },
                {
                    "name": "Iba57",
                    "type": "synonym"
                },
                {
                    "name": "RGD1306000",
                    "type": "synonym"
                }
            ],
            "record_id": "D4ADG2-1",
            "evidence": [
                {
                    "id": "0110819",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110819"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VHN4-1",
            "uniprot_ac": "Q9VHN4",
            "uniprot_id": "Q9VHN4_DROME",
            "refseq_ac": "NP_649814",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CAF17 C-terminal domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "CG8043-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG8043",
                    "type": "recommended"
                },
                {
                    "name": "CG8043",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8043",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG8043",
                    "type": "synonym"
                },
                {
                    "name": "Iba57",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VHN4-1",
            "evidence": [
                {
                    "id": "0110819",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110819"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110819"
}