{
    "disease_id": "DOID:0070330",
    "recommended_name": {
        "id": "DOID:0070330",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070330",
        "name": "multiple mitochondrial dysfunctions syndrome",
        "description": "A mitochondrial metabolism disease that is characterized by reduced function of more than one stage of energy production resulting from mitochondria impairment."
    },
    "synonyms": [
        {
            "id": "DOID:0070330",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070330",
            "name": "fatal multiple mitochondrial dysfunction syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011582",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011582",
            "name": "multiple mitochondrial dysfunctions syndrome 1",
            "description": "Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the NFU1 gene."
        },
        {
            "id": "MONDO:0011582",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011582",
            "name": "Mmds",
            "description": ""
        },
        {
            "id": "MONDO:0011582",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011582",
            "name": "NFU1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011582",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011582",
            "name": "NFU1 fatal multiple mitochondrial dysfunctions syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011582",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011582",
            "name": "fatal multiple mitochondrial dysfunctions syndrome caused by mutation in NFU1",
            "description": ""
        },
        {
            "id": "MONDO:0011582",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011582",
            "name": "multiple mitochondrial dysfunctions syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0011582",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011582",
            "name": "multiple mitochondrial dysfunctions syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0011582",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011582",
            "name": "MMDS1",
            "description": ""
        },
        {
            "id": "MIM:605711",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/605711",
            "name": "Multiple mitochondrial dysfunctions syndrome 1",
            "description": "Multiple mitochondrial dysfunctions syndrome 1"
        }
    ],
    "children": [
        {
            "id": "DOID:0070332",
            "label": "multiple mitochondrial dysfunctions syndrome 6",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070733",
            "label": "multiple mitochondrial dysfunctions syndrome 7",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070734",
            "label": "episodic mitochondrial myopathy with optic atrophy and reversible leukoencephalopathy",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070735",
            "label": "auditory neuropathy and optic atrophy",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070736",
            "label": "multiple mitochondrial dysfunctions syndrome 9B",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070737",
            "label": "multiple mitochondrial dysfunctions syndrome 10",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080133",
            "label": "multiple mitochondrial dysfunctions syndrome 1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080134",
            "label": "multiple mitochondrial dysfunctions syndrome 2",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080135",
            "label": "multiple mitochondrial dysfunctions syndrome 3",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080136",
            "label": "multiple mitochondrial dysfunctions syndrome 4",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080274",
            "label": "multiple mitochondrial dysfunctions syndrome 5",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0080135",
        "DOID:0080133",
        "DOID:0070735",
        "DOID:0070736",
        "DOID:0080274",
        "DOID:0070737",
        "DOID:0070733",
        "DOID:0080136",
        "DOID:0080134",
        "DOID:0070330",
        "DOID:0070332",
        "DOID:0070734"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070330",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070330",
            "categories": []
        },
        {
            "id": "MONDO:0011582",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011582",
            "categories": []
        },
        {
            "id": "MIM:605711",
            "database": "MIM",
            "url": "https://www.omim.org/entry/605711",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q91WK5-1",
            "uniprot_ac": "Q91WK5",
            "uniprot_id": "GCSH_MOUSE",
            "refseq_ac": "NP_080848",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glycine cleavage system H protein, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "Lipoic acid-containing protein",
                    "type": "synonym"
                },
                {
                    "name": "glycine cleavage system H protein, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "glycine cleavage system H protein, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "lipoic acid-containing protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gcsh",
                    "type": "recommended"
                },
                {
                    "name": "1100001L02Rik",
                    "type": "synonym"
                },
                {
                    "name": "5730591C18Rik",
                    "type": "synonym"
                },
                {
                    "name": "Gcsh",
                    "type": "synonym"
                }
            ],
            "record_id": "Q91WK5-1",
            "evidence": [
                {
                    "id": "0070330",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070330"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UMS0-1",
            "uniprot_ac": "Q9UMS0",
            "uniprot_id": "NFU1_HUMAN",
            "refseq_ac": "NP_001002755",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "NFU1 iron-sulfur cluster scaffold homolog, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "HIRA-interacting protein 5",
                    "type": "synonym"
                },
                {
                    "name": "NFU1 iron-sulfur cluster scaffold homolog, mitochondrial isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "NFU1 iron-sulfur cluster scaffold homolog, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "NifU-like C-terminal domain containing",
                    "type": "synonym"
                },
                {
                    "name": "iron-sulfur cluster scaffold protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NFU1",
                    "type": "recommended"
                },
                {
                    "name": "CGI-33",
                    "type": "synonym"
                },
                {
                    "name": "HIRIP5",
                    "type": "synonym"
                },
                {
                    "name": "HIRIP",
                    "type": "synonym"
                },
                {
                    "name": "MMDFS",
                    "type": "synonym"
                },
                {
                    "name": "MMDS1",
                    "type": "synonym"
                },
                {
                    "name": "NFU1",
                    "type": "synonym"
                },
                {
                    "name": "NIFUC",
                    "type": "synonym"
                },
                {
                    "name": "Nfu",
                    "type": "synonym"
                },
                {
                    "name": "NifU",
                    "type": "synonym"
                },
                {
                    "name": "SPG93",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UMS0-1",
            "evidence": [
                {
                    "id": "605711",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/605711"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P39726-1",
            "uniprot_ac": "P39726",
            "uniprot_id": "GCSH_YEAST",
            "refseq_ac": "NP_009355",
            "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": "Glycine cleavage system H protein, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "Glycine decarboxylase complex subunit H",
                    "type": "synonym"
                },
                {
                    "name": "glycine decarboxylase subunit H",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GCV3",
                    "type": "recommended"
                },
                {
                    "name": "FUN40",
                    "type": "synonym"
                },
                {
                    "name": "GCV3",
                    "type": "synonym"
                }
            ],
            "record_id": "P39726-1",
            "evidence": [
                {
                    "id": "0070330",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070330"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5I0P2-1",
            "uniprot_ac": "Q5I0P2",
            "uniprot_id": "GCSH_RAT",
            "refseq_ac": "NP_598282",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glycine cleavage system H protein, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "Lipoic acid-containing protein",
                    "type": "synonym"
                },
                {
                    "name": "glycine cleavage system H protein, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "glycine cleavage system H protein, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "glycine cleavage system protein H (aminomethyl carrier)",
                    "type": "synonym"
                },
                {
                    "name": "lipoic acid-containing protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gcshl1",
                    "type": "recommended"
                },
                {
                    "name": "Gcsh",
                    "type": "recommended"
                },
                {
                    "name": "AABR07007134.1",
                    "type": "synonym"
                },
                {
                    "name": "Gcsh",
                    "type": "synonym"
                },
                {
                    "name": "RGD1563099",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5I0P2-1",
            "evidence": [
                {
                    "id": "0070330",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070330"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9U616-1",
            "uniprot_ac": "Q9U616",
            "uniprot_id": "GCSH_DROME",
            "refseq_ac": "NP_524197",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glycine cleavage system H protein, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "CG7758-PA",
                    "type": "synonym"
                },
                {
                    "name": "Protein pumpless",
                    "type": "synonym"
                },
                {
                    "name": "ppl-PA",
                    "type": "synonym"
                },
                {
                    "name": "pumpless",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ppl",
                    "type": "recommended"
                },
                {
                    "name": "CG7758",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7758",
                    "type": "synonym"
                },
                {
                    "name": "l(3)00217",
                    "type": "synonym"
                },
                {
                    "name": "l(3)78Cb",
                    "type": "synonym"
                },
                {
                    "name": "ppl",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9U616-1",
            "evidence": [
                {
                    "id": "0070330",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070330"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P23434-1",
            "uniprot_ac": "P23434",
            "uniprot_id": "GCSH_HUMAN",
            "refseq_ac": "NP_004474",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glycine cleavage system H protein, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "Lipoic acid-containing protein",
                    "type": "synonym"
                },
                {
                    "name": "glycine cleavage system H protein, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "glycine cleavage system protein H (aminomethyl carrier)",
                    "type": "synonym"
                },
                {
                    "name": "lipoic acid-containing protein",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial glycine cleavage system H-protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GCSH",
                    "type": "recommended"
                },
                {
                    "name": "GCE",
                    "type": "synonym"
                },
                {
                    "name": "GCSH",
                    "type": "synonym"
                },
                {
                    "name": "MMDS7",
                    "type": "synonym"
                },
                {
                    "name": "NKH",
                    "type": "synonym"
                }
            ],
            "record_id": "P23434-1",
            "evidence": [
                {
                    "id": "0070330",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070330"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070330"
}