{
    "disease_id": "DOID:0080135",
    "recommended_name": {
        "id": "DOID:0080135",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080135",
        "name": "multiple mitochondrial dysfunctions syndrome 3",
        "description": "A multiple mitochondrial dysfunctions syndrome that is characterized by loss of previously acquired developmental milestones in the first months or years of life, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the iron-sulfur cluster assembly factor IBA57 gene on chromosome 1q42."
    },
    "synonyms": [
        {
            "id": "DOID:0080135",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080135",
            "name": "IBA57 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014132",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014132",
            "name": "multiple mitochondrial dysfunctions syndrome 3",
            "description": "Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the IBA57 gene."
        },
        {
            "id": "MONDO:0014132",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014132",
            "name": "IBA57 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014132",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014132",
            "name": "IBA57 fatal multiple mitochondrial dysfunctions syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014132",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014132",
            "name": "fatal multiple mitochondrial dysfunctions syndrome caused by mutation in IBA57",
            "description": ""
        },
        {
            "id": "MONDO:0014132",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014132",
            "name": "multiple mitochondrial dysfunctions syndrome 3",
            "description": ""
        },
        {
            "id": "MONDO:0014132",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014132",
            "name": "multiple mitochondrial dysfunctions syndrome type 3",
            "description": ""
        },
        {
            "id": "MONDO:0014132",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014132",
            "name": "MMDS3",
            "description": ""
        },
        {
            "id": "MIM:615330",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615330",
            "name": "Multiple mitochondrial dysfunctions syndrome 3",
            "description": "Multiple mitochondrial dysfunctions syndrome 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080135"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080135",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080135",
            "categories": []
        },
        {
            "id": "MONDO:0014132",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014132",
            "categories": []
        },
        {
            "id": "MIM:615330",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615330",
            "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": "0080135",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080135"
                }
            ]
        },
        {
            "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": "0080135",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080135"
                }
            ]
        },
        {
            "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": "615330",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615330"
                },
                {
                    "id": "0080135",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080135"
                }
            ]
        },
        {
            "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": "0080135",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080135"
                }
            ]
        },
        {
            "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": "0080135",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080135"
                }
            ]
        },
        {
            "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": "0080135",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080135"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080135"
}