{
    "disease_id": "DOID:0080274",
    "recommended_name": {
        "id": "DOID:0080274",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080274",
        "name": "multiple mitochondrial dysfunctions syndrome 5",
        "description": "A multiple mitochondrial dysfunctions syndrome that is characterized by progressive neurologic deterioration beginning in early infancy, with affected individuals having no psychomotor development and early-onset seizures with neurologic decline and spasticity, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the iron-sulfur cluster assembly 1 gene on chromosome 9q21."
    },
    "synonyms": [
        {
            "id": "MONDO:0033282",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033282",
            "name": "multiple mitochondrial dysfunctions syndrome 5",
            "description": ""
        },
        {
            "id": "MONDO:0033282",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033282",
            "name": "multiple mitochondrial dysfunctions syndrome 5",
            "description": ""
        },
        {
            "id": "MONDO:0033282",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033282",
            "name": "MMDS5",
            "description": ""
        },
        {
            "id": "MIM:617613",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617613",
            "name": "Multiple mitochondrial dysfunctions syndrome 5",
            "description": "Multiple mitochondrial dysfunctions syndrome 5"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080274"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080274",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080274",
            "categories": []
        },
        {
            "id": "MONDO:0033282",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033282",
            "categories": []
        },
        {
            "id": "MIM:617613",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617613",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q4QRC6-1",
            "uniprot_ac": "Q4QRC6",
            "uniprot_id": "ISCA1_DANRE",
            "refseq_ac": "NP_001020349",
            "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 1 homolog, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "HESB-like domain-containing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Iron-sulfur assembly protein IscA",
                    "type": "synonym"
                },
                {
                    "name": "iron-sulfur assembly protein IscA",
                    "type": "synonym"
                },
                {
                    "name": "iron-sulfur cluster assembly 1 homolog, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "iron-sulfur cluster assembly 1 homolog, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "isca1",
                    "type": "recommended"
                },
                {
                    "name": "hbld2",
                    "type": "synonym"
                },
                {
                    "name": "isca1",
                    "type": "synonym"
                },
                {
                    "name": "magr",
                    "type": "synonym"
                },
                {
                    "name": "zgc:114185",
                    "type": "synonym"
                }
            ],
            "record_id": "Q4QRC6-1",
            "evidence": [
                {
                    "id": "0080274",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080274"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "I3ITR1-1",
            "uniprot_ac": "I3ITR1",
            "uniprot_id": "I3ITR1_MOUSE",
            "refseq_ac": "",
            "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 1 homolog, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "HESB-like domain-containing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Iron-sulfur assembly protein IscA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AK157302",
                    "type": "recommended"
                }
            ],
            "record_id": "I3ITR1-1",
            "evidence": [
                {
                    "id": "0080274",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080274"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9D924-1",
            "uniprot_ac": "Q9D924",
            "uniprot_id": "ISCA1_MOUSE",
            "refseq_ac": "NP_081197",
            "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 1 homolog, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "HESB like domain containing 2",
                    "type": "synonym"
                },
                {
                    "name": "HESB-like domain-containing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Iron-sulfur assembly protein IscA",
                    "type": "synonym"
                },
                {
                    "name": "iron-sulfur assembly protein IscA",
                    "type": "synonym"
                },
                {
                    "name": "iron-sulfur cluster assembly 1 homolog, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "iron-sulfur cluster assembly 1 homolog, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Isca1",
                    "type": "recommended"
                },
                {
                    "name": "1810010A06Rik",
                    "type": "synonym"
                },
                {
                    "name": "Hbld2",
                    "type": "synonym"
                },
                {
                    "name": "Isca1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9D924-1",
            "evidence": [
                {
                    "id": "0080274",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080274"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9BUE6-1",
            "uniprot_ac": "Q9BUE6",
            "uniprot_id": "ISCA1_HUMAN",
            "refseq_ac": "NP_112202",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Iron-sulfur cluster assembly 1 homolog, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "HESB like domain containing 2",
                    "type": "synonym"
                },
                {
                    "name": "HESB-like domain-containing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Iron-sulfur assembly protein IscA",
                    "type": "synonym"
                },
                {
                    "name": "hIscA",
                    "type": "synonym"
                },
                {
                    "name": "iron-sulfur assembly protein IscA",
                    "type": "synonym"
                },
                {
                    "name": "iron-sulfur cluster assembly 1 homolog, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "iron-sulfur cluster assembly 1 homolog, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ISCA1",
                    "type": "recommended"
                },
                {
                    "name": "GK004",
                    "type": "synonym"
                },
                {
                    "name": "HBLD2",
                    "type": "synonym"
                },
                {
                    "name": "ISA1",
                    "type": "synonym"
                },
                {
                    "name": "ISCA1",
                    "type": "synonym"
                },
                {
                    "name": "MMDS5",
                    "type": "synonym"
                },
                {
                    "name": "hIscA1",
                    "type": "synonym"
                },
                {
                    "name": "hIscA",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9BUE6-1",
            "evidence": [
                {
                    "id": "617613",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617613"
                },
                {
                    "id": "0080274",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080274"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q07821-1",
            "uniprot_ac": "Q07821",
            "uniprot_id": "ISA1_YEAST",
            "refseq_ac": "NP_013073",
            "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": "Iron-sulfur assembly protein 1",
                    "type": "recommended"
                },
                {
                    "name": "Fe-binding Fe/S cluster assembly protein ISA1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ISA1",
                    "type": "recommended"
                },
                {
                    "name": "ISA1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q07821-1",
            "evidence": [
                {
                    "id": "0080274",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080274"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q80W96-1",
            "uniprot_ac": "Q80W96",
            "uniprot_id": "ISCA1_RAT",
            "refseq_ac": "NP_853657",
            "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 1 homolog, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "HESB like domain containing 2",
                    "type": "synonym"
                },
                {
                    "name": "HESB-like domain-containing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "HesB protein",
                    "type": "synonym"
                },
                {
                    "name": "Iron-sulfur assembly protein IscA",
                    "type": "synonym"
                },
                {
                    "name": "iron-sulfur assembly protein IscA",
                    "type": "synonym"
                },
                {
                    "name": "iron-sulfur cluster assembly 1 homolog, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "iron-sulfur cluster assembly 1 homolog, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Isca1",
                    "type": "recommended"
                },
                {
                    "name": "Hbld2",
                    "type": "synonym"
                },
                {
                    "name": "Isca1",
                    "type": "synonym"
                },
                {
                    "name": "hIscA",
                    "type": "synonym"
                }
            ],
            "record_id": "Q80W96-1",
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                {
                    "id": "0080274",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080274"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8T3X9-1",
            "uniprot_ac": "Q8T3X9",
            "uniprot_id": "ISCA1_DROME",
            "refseq_ac": "NP_001259579",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Iron-sulfur cluster assembly 1 homolog, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "CG8198-PB",
                    "type": "synonym"
                },
                {
                    "name": "IscA1 homologue",
                    "type": "synonym"
                },
                {
                    "name": "Lethal (1) G0136",
                    "type": "synonym"
                },
                {
                    "name": "MagR-PB",
                    "type": "synonym"
                },
                {
                    "name": "Putative magnetoreceptor subunit MagR",
                    "type": "synonym"
                },
                {
                    "name": "lethal (1) G0136",
                    "type": "synonym"
                },
                {
                    "name": "magnetic receptor, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "magnetic receptor",
                    "type": "synonym"
                },
                {
                    "name": "magnetoreceptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MagR",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:AT26381",
                    "type": "synonym"
                },
                {
                    "name": "CG8198",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8198",
                    "type": "synonym"
                },
                {
                    "name": "IscA1",
                    "type": "synonym"
                },
                {
                    "name": "Isca1",
                    "type": "synonym"
                },
                {
                    "name": "MagR",
                    "type": "synonym"
                },
                {
                    "name": "dMagR",
                    "type": "synonym"
                },
                {
                    "name": "l(1)G0136",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8T3X9-1",
            "evidence": [
                {
                    "id": "0080274",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080274"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080274"
}