{
    "disease_id": "DOID:0080136",
    "recommended_name": {
        "id": "DOID:0080136",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080136",
        "name": "multiple mitochondrial dysfunctions syndrome 4",
        "description": "A multiple mitochondrial dysfunctions syndrome that is characterized by normal development for the first months of life, followed by progressive loss of motor and social skills with hypotonia, spasticity, and nystagmus, resulting in death in early childhood, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the iron-sulfur cluster assembly 2 gene on chromosome 14q24."
    },
    "synonyms": [
        {
            "id": "MONDO:0014611",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014611",
            "name": "multiple mitochondrial dysfunctions syndrome 4",
            "description": "Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the ISCA2 gene."
        },
        {
            "id": "MONDO:0014611",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014611",
            "name": "ISCA2 fatal multiple mitochondrial dysfunctions syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014611",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014611",
            "name": "fatal multiple mitochondrial dysfunctions syndrome caused by mutation in ISCA2",
            "description": ""
        },
        {
            "id": "MONDO:0014611",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014611",
            "name": "multiple mitochondrial dysfunctions syndrome 4",
            "description": ""
        },
        {
            "id": "MONDO:0014611",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014611",
            "name": "multiple mitochondrial dysfunctions syndrome type 4",
            "description": ""
        },
        {
            "id": "MONDO:0014611",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014611",
            "name": "MMDS4",
            "description": ""
        },
        {
            "id": "MIM:616370",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616370",
            "name": "Multiple mitochondrial dysfunctions syndrome 4",
            "description": "Multiple mitochondrial dysfunctions syndrome 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080136"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080136",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080136",
            "categories": []
        },
        {
            "id": "MONDO:0014611",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014611",
            "categories": []
        },
        {
            "id": "MIM:616370",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616370",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1P3Z0-1",
            "uniprot_ac": "A0A8M1P3Z0",
            "uniprot_id": "A0A8M1P3Z0_DANRE",
            "refseq_ac": "NP_001314830",
            "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 2 homolog, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "HESB-like domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "iron-sulfur cluster assembly 2 homolog, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "isca2",
                    "type": "recommended"
                },
                {
                    "name": "isca2",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-1f12.2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1P3Z0-1",
            "evidence": [
                {
                    "id": "0080136",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080136"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9DCB8-1",
            "uniprot_ac": "Q9DCB8",
            "uniprot_id": "ISCA2_MOUSE",
            "refseq_ac": "NP_083139",
            "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 2 homolog, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "HESB like domain containing 1",
                    "type": "synonym"
                },
                {
                    "name": "HESB-like domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "iron-sulfur cluster assembly 2 homolog, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "iron-sulfur cluster assembly 2 homolog, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Isca2",
                    "type": "recommended"
                },
                {
                    "name": "0710001C05Rik",
                    "type": "synonym"
                },
                {
                    "name": "5730594E03Rik",
                    "type": "synonym"
                },
                {
                    "name": "Hbld1",
                    "type": "synonym"
                },
                {
                    "name": "Isca2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9DCB8-1",
            "evidence": [
                {
                    "id": "0080136",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080136"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q86U28-1",
            "uniprot_ac": "Q86U28",
            "uniprot_id": "ISCA2_HUMAN",
            "refseq_ac": "NP_001258936",
            "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 2 homolog, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "HESB-like domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "iron-sulfur cluster assembly 2 homolog, mitochondrial isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "iron-sulfur cluster assembly 2 homolog, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ISCA2",
                    "type": "recommended"
                },
                {
                    "name": "HBLD1",
                    "type": "synonym"
                },
                {
                    "name": "ISA2",
                    "type": "synonym"
                },
                {
                    "name": "ISCA2",
                    "type": "synonym"
                },
                {
                    "name": "MMDS4",
                    "type": "synonym"
                },
                {
                    "name": "c14_5557",
                    "type": "synonym"
                }
            ],
            "record_id": "Q86U28-1",
            "evidence": [
                {
                    "id": "616370",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616370"
                },
                {
                    "id": "0080136",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080136"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q12425-1",
            "uniprot_ac": "Q12425",
            "uniprot_id": "ISA2_YEAST",
            "refseq_ac": "NP_015392",
            "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 2",
                    "type": "recommended"
                },
                {
                    "name": "Isa2p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ISA2",
                    "type": "recommended"
                },
                {
                    "name": "ISA2",
                    "type": "synonym"
                },
                {
                    "name": "YP9499.22",
                    "type": "synonym"
                }
            ],
            "record_id": "Q12425-1",
            "evidence": [
                {
                    "id": "0080136",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080136"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I5ZSL2-1",
            "uniprot_ac": "A0A8I5ZSL2",
            "uniprot_id": "A0A8I5ZSL2_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": "Iron-sulfur cluster assembly 2 homolog, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "HESB-like domain-containing protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Isca2",
                    "type": "recommended"
                },
                {
                    "name": "RGD1563216",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I5ZSL2-1",
            "evidence": [
                {
                    "id": "0080136",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080136"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VC65-1",
            "uniprot_ac": "Q9VC65",
            "uniprot_id": "Q9VC65_DROME",
            "refseq_ac": "NP_001262920",
            "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 2 homolog, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "CG13623-PB",
                    "type": "synonym"
                },
                {
                    "name": "HESB-like domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "IscA2 homologue",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG13623",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:GH27470",
                    "type": "synonym"
                },
                {
                    "name": "CG13623",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG13623",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG13623",
                    "type": "synonym"
                },
                {
                    "name": "IscA2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VC65-1",
            "evidence": [
                {
                    "id": "0080136",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080136"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080136"
}