{
    "disease_id": "DOID:0070425",
    "recommended_name": {
        "id": "DOID:0070425",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070425",
        "name": "combined oxidative phosphorylation deficiency 52",
        "description": "A combined oxidative phosphorylation deficiency characterized by infantile onset, lactic acidemia, hypotonia, respiratory chain complex II and III deficiency, and multisystem organ failure that has_material_basis_in homozygous mutation in the NFS1 gene on chromosome 20q11."
    },
    "synonyms": [
        {
            "id": "DOID:0070425",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070425",
            "name": "COXPD52",
            "description": ""
        },
        {
            "id": "MONDO:0030311",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030311",
            "name": "combined oxidative phosphorylation deficiency 52",
            "description": ""
        },
        {
            "id": "MONDO:0030311",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030311",
            "name": "COXPD52",
            "description": ""
        },
        {
            "id": "MONDO:0030311",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030311",
            "name": "combined oxidative phosphorylation deficiency 52",
            "description": ""
        },
        {
            "id": "MIM:619386",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619386",
            "name": "Combined oxidative phosphorylation deficiency 52",
            "description": "Combined oxidative phosphorylation deficiency 52"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070425"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070425",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070425",
            "categories": []
        },
        {
            "id": "MONDO:0030311",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030311",
            "categories": []
        },
        {
            "id": "MIM:619386",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619386",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9Z1J3-1",
            "uniprot_ac": "Q9Z1J3",
            "uniprot_id": "NFS1_MOUSE",
            "refseq_ac": "NP_035041",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cysteine desulfurase",
                    "type": "recommended"
                },
                {
                    "name": "2.8.1.7",
                    "type": "synonym"
                },
                {
                    "name": "cysteine desulfurase isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "cysteine desulfurase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "m-Nfs1",
                    "type": "synonym"
                },
                {
                    "name": "nifS-like (sic)",
                    "type": "synonym"
                },
                {
                    "name": "nitrogen fixation gene, yeast homolog 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nfs1",
                    "type": "recommended"
                },
                {
                    "name": "Nfs1",
                    "type": "synonym"
                },
                {
                    "name": "Nifs",
                    "type": "synonym"
                },
                {
                    "name": "m-Nfs1",
                    "type": "synonym"
                },
                {
                    "name": "m-Nfsl",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Z1J3-1",
            "evidence": [
                {
                    "id": "0070425",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070425"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y697-1",
            "uniprot_ac": "Q9Y697",
            "uniprot_id": "NFS1_HUMAN",
            "refseq_ac": "NP_001185918",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cysteine desulfurase",
                    "type": "recommended"
                },
                {
                    "name": "2.8.1.7",
                    "type": "synonym"
                },
                {
                    "name": "NFS1 nitrogen fixation 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "cysteine desulfurase isoform b precursor",
                    "type": "synonym"
                },
                {
                    "name": "cysteine desulfurase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "nitrogen fixation 1 (S. cerevisiae, homolog)",
                    "type": "synonym"
                },
                {
                    "name": "nitrogen-fixing bacteria S-like protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NFS1",
                    "type": "recommended"
                },
                {
                    "name": "COXPD52",
                    "type": "synonym"
                },
                {
                    "name": "HUSSY-08",
                    "type": "synonym"
                },
                {
                    "name": "IscS",
                    "type": "synonym"
                },
                {
                    "name": "NFS1",
                    "type": "synonym"
                },
                {
                    "name": "NIFS",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y697-1",
            "evidence": [
                {
                    "id": "619386",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619386"
                },
                {
                    "id": "0070425",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070425"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P25374-1",
            "uniprot_ac": "P25374",
            "uniprot_id": "NFS1_YEAST",
            "refseq_ac": "NP_009912",
            "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": "Cysteine desulfurase",
                    "type": "recommended"
                },
                {
                    "name": "2.8.1.7",
                    "type": "synonym"
                },
                {
                    "name": "cysteine desulfurase",
                    "type": "synonym"
                },
                {
                    "name": "tRNA-splicing protein SPL1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NFS1",
                    "type": "recommended"
                },
                {
                    "name": "NFS1",
                    "type": "synonym"
                },
                {
                    "name": "SPL1",
                    "type": "synonym"
                }
            ],
            "record_id": "P25374-1",
            "evidence": [
                {
                    "id": "0070425",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070425"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q99P39-1",
            "uniprot_ac": "Q99P39",
            "uniprot_id": "NFS1_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": "Cysteine desulfurase",
                    "type": "recommended"
                },
                {
                    "name": "2.8.1.7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nfs1",
                    "type": "recommended"
                },
                {
                    "name": "Nifs",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99P39-1",
            "evidence": [
                {
                    "id": "0070425",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070425"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VKD3-1",
            "uniprot_ac": "Q9VKD3",
            "uniprot_id": "NFS1_DROME",
            "refseq_ac": "NP_609533",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cysteine desulfurase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2.8.1.7",
                    "type": "synonym"
                },
                {
                    "name": "CG12264-PA",
                    "type": "synonym"
                },
                {
                    "name": "IscS homologue",
                    "type": "synonym"
                },
                {
                    "name": "Nfs1 cysteine desulfurase",
                    "type": "synonym"
                },
                {
                    "name": "Nfs1-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nfs1",
                    "type": "recommended"
                },
                {
                    "name": "CG12264-PA",
                    "type": "synonym"
                },
                {
                    "name": "CG12264",
                    "type": "synonym"
                },
                {
                    "name": "CSE",
                    "type": "synonym"
                },
                {
                    "name": "DmNfs1",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG12264",
                    "type": "synonym"
                },
                {
                    "name": "NFS1",
                    "type": "synonym"
                },
                {
                    "name": "Nfs1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VKD3-1",
            "evidence": [
                {
                    "id": "0070425",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070425"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070425"
}