{
    "disease_id": "DOID:0111474",
    "recommended_name": {
        "id": "DOID:0111474",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111474",
        "name": "combined oxidative phosphorylation deficiency 1",
        "description": "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GFM1 gene on chromosome 3q25.32."
    },
    "synonyms": [
        {
            "id": "DOID:0111474",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111474",
            "name": "COXPD1",
            "description": ""
        },
        {
            "id": "DOID:0111474",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111474",
            "name": "hepatoencephalopathy due to combined oxidative phosphorylation defect type 1",
            "description": ""
        },
        {
            "id": "DOID:0111474",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111474",
            "name": "early fatal progressive hepatoencephalopathy",
            "description": ""
        },
        {
            "id": "DOID:0111474",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111474",
            "name": "hepatoencephalopathy due to COXPD1",
            "description": ""
        },
        {
            "id": "MONDO:0012191",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012191",
            "name": "hepatoencephalopathy due to combined oxidative phosphorylation defect type 1",
            "description": "Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 is a rare, inherited mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by intrauterine growth retardation, metabolic decompensation with recurrent vomiting, persistent severe lactic acidosis, encephalopathy, seizures, failure to thrive, severe global developmental delay, poor eye contact, severe muscular hypotonia or axial hypotonia with limb hypertonia, hepatomegaly and/or liver dysfunction and/or liver failure, leading to fatal outcome in severe cases. Neuroimaging abnormalities may include corpus callosum thinning, leukodystrophy, delayed myelination and basal ganglia involvement."
        },
        {
            "id": "MONDO:0012191",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012191",
            "name": "GFM1 combined oxidative phosphorylation deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012191",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012191",
            "name": "Hepatoencephalopathy due to COXPD1",
            "description": ""
        },
        {
            "id": "MONDO:0012191",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012191",
            "name": "combined oxidative phosphorylation deficiency caused by mutation in GFM1",
            "description": ""
        },
        {
            "id": "MONDO:0012191",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012191",
            "name": "combined oxidative phosphorylation deficiency type 1",
            "description": ""
        },
        {
            "id": "MONDO:0012191",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012191",
            "name": "hepatoencephalopathy due to combined oxidative phosphorylation defect type 1",
            "description": ""
        },
        {
            "id": "MONDO:0012191",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012191",
            "name": "COXPD1",
            "description": ""
        },
        {
            "id": "MONDO:0012191",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012191",
            "name": "combined oxidative phosphorylation deficiency 1",
            "description": ""
        },
        {
            "id": "MIM:609060",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/609060",
            "name": "Combined oxidative phosphorylation deficiency 1",
            "description": "Combined oxidative phosphorylation deficiency 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111474"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111474",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111474",
            "categories": []
        },
        {
            "id": "MONDO:0012191",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012191",
            "categories": []
        },
        {
            "id": "MIM:609060",
            "database": "MIM",
            "url": "https://www.omim.org/entry/609060",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q08BB1-1",
            "uniprot_ac": "Q08BB1",
            "uniprot_id": "EFGM_DANRE",
            "refseq_ac": "NP_001073463",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Elongation factor G, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.-",
                    "type": "synonym"
                },
                {
                    "name": "EF-Gmt",
                    "type": "synonym"
                },
                {
                    "name": "Elongation factor G 1, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "Elongation factor G1",
                    "type": "synonym"
                },
                {
                    "name": "elongation factor G, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "mEF-G 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "gfm1",
                    "type": "recommended"
                },
                {
                    "name": "efg1",
                    "type": "synonym"
                },
                {
                    "name": "fc96f12",
                    "type": "synonym"
                },
                {
                    "name": "gfm1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc96f12",
                    "type": "synonym"
                },
                {
                    "name": "zgc:154041",
                    "type": "synonym"
                }
            ],
            "record_id": "Q08BB1-1",
            "evidence": [
                {
                    "id": "0111474",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111474"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8K0D5-1",
            "uniprot_ac": "Q8K0D5",
            "uniprot_id": "EFGM_MOUSE",
            "refseq_ac": "NP_613057",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Elongation factor G, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.-",
                    "type": "synonym"
                },
                {
                    "name": "EF-Gmt",
                    "type": "synonym"
                },
                {
                    "name": "Elongation factor G 1, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "Elongation factor G1",
                    "type": "synonym"
                },
                {
                    "name": "G elongation factor 1",
                    "type": "synonym"
                },
                {
                    "name": "elongation factor G 1, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "elongation factor G, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "elongation factor G1",
                    "type": "synonym"
                },
                {
                    "name": "mEF-G 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gfm1",
                    "type": "recommended"
                },
                {
                    "name": "D3Wsu133e",
                    "type": "synonym"
                },
                {
                    "name": "Efg1",
                    "type": "synonym"
                },
                {
                    "name": "Efg",
                    "type": "synonym"
                },
                {
                    "name": "Gfm1",
                    "type": "synonym"
                },
                {
                    "name": "Gfm",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8K0D5-1",
            "evidence": [
                {
                    "id": "0111474",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111474"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96RP9-1",
            "uniprot_ac": "Q96RP9",
            "uniprot_id": "EFGM_HUMAN",
            "refseq_ac": "NP_001295093",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Elongation factor G, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.-",
                    "type": "synonym"
                },
                {
                    "name": "EF-Gmt",
                    "type": "synonym"
                },
                {
                    "name": "Elongation factor G 1, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "Elongation factor G1",
                    "type": "synonym"
                },
                {
                    "name": "G translation elongation factor, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "elongation factor G, mitochondrial isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "hEFG1",
                    "type": "synonym"
                },
                {
                    "name": "mEF-G 1",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial elongation factor G1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GFM1",
                    "type": "recommended"
                },
                {
                    "name": "COXPD1",
                    "type": "synonym"
                },
                {
                    "name": "EFG1",
                    "type": "synonym"
                },
                {
                    "name": "EFGM",
                    "type": "synonym"
                },
                {
                    "name": "EFG",
                    "type": "synonym"
                },
                {
                    "name": "EGF1",
                    "type": "synonym"
                },
                {
                    "name": "GFM1",
                    "type": "synonym"
                },
                {
                    "name": "GFM",
                    "type": "synonym"
                },
                {
                    "name": "hEFG1",
                    "type": "synonym"
                },
                {
                    "name": "mtEF-G1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96RP9-1",
            "evidence": [
                {
                    "id": "609060",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/609060"
                },
                {
                    "id": "0111474",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111474"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P25039-1",
            "uniprot_ac": "P25039",
            "uniprot_id": "EFGM_YEAST",
            "refseq_ac": "NP_013170",
            "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": "Elongation factor G, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "EF-Gmt",
                    "type": "synonym"
                },
                {
                    "name": "Elongation factor G 1, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "Elongation factor G1",
                    "type": "synonym"
                },
                {
                    "name": "Mef1p",
                    "type": "synonym"
                },
                {
                    "name": "mEF-G 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MEF1",
                    "type": "recommended"
                },
                {
                    "name": "L2195",
                    "type": "synonym"
                },
                {
                    "name": "MEF1",
                    "type": "synonym"
                }
            ],
            "record_id": "P25039-1",
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                {
                    "id": "0111474",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111474"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q07803-1",
            "uniprot_ac": "Q07803",
            "uniprot_id": "EFGM_RAT",
            "refseq_ac": "NP_446077",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Elongation factor G, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.-",
                    "type": "synonym"
                },
                {
                    "name": "EF-Gmt",
                    "type": "synonym"
                },
                {
                    "name": "Elongation factor G 1, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "Elongation factor G1",
                    "type": "synonym"
                },
                {
                    "name": "elongation factor G 1, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "elongation factor G, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "elongation factor G1",
                    "type": "synonym"
                },
                {
                    "name": "mEF-G 1",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial elongation factor G",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gfm1",
                    "type": "recommended"
                },
                {
                    "name": "EF-G",
                    "type": "synonym"
                },
                {
                    "name": "EFG1",
                    "type": "synonym"
                },
                {
                    "name": "Efg1",
                    "type": "synonym"
                },
                {
                    "name": "Efg",
                    "type": "synonym"
                },
                {
                    "name": "GFM1",
                    "type": "synonym"
                },
                {
                    "name": "Gfm1",
                    "type": "synonym"
                },
                {
                    "name": "Gfm",
                    "type": "synonym"
                }
            ],
            "record_id": "Q07803-1",
            "evidence": [
                {
                    "id": "0111474",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111474"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VM33-1",
            "uniprot_ac": "Q9VM33",
            "uniprot_id": "EFGM_DROME",
            "refseq_ac": "NP_609105",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Elongation factor G, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "CG4567-PA",
                    "type": "synonym"
                },
                {
                    "name": "EF-Gmt",
                    "type": "synonym"
                },
                {
                    "name": "Elongation factor G 1, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "Elongation factor G1",
                    "type": "synonym"
                },
                {
                    "name": "Protein iconoclast",
                    "type": "synonym"
                },
                {
                    "name": "complementation group B",
                    "type": "synonym"
                },
                {
                    "name": "complementation group G",
                    "type": "synonym"
                },
                {
                    "name": "dEF-G1",
                    "type": "synonym"
                },
                {
                    "name": "iconoclast",
                    "type": "synonym"
                },
                {
                    "name": "lethal (2) 27Cb",
                    "type": "synonym"
                },
                {
                    "name": "lethal (2) 27Ea",
                    "type": "synonym"
                },
                {
                    "name": "mEF-G 1",
                    "type": "synonym"
                },
                {
                    "name": "mEFG1-PA",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial translation elongation factor G 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mEFG1",
                    "type": "recommended"
                },
                {
                    "name": "B",
                    "type": "synonym"
                },
                {
                    "name": "CG4567",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4567",
                    "type": "synonym"
                },
                {
                    "name": "GFM1",
                    "type": "synonym"
                },
                {
                    "name": "G",
                    "type": "synonym"
                },
                {
                    "name": "dEF-G1",
                    "type": "synonym"
                },
                {
                    "name": "ico",
                    "type": "synonym"
                },
                {
                    "name": "l(2)27Cb",
                    "type": "synonym"
                },
                {
                    "name": "l(2)27Ea",
                    "type": "synonym"
                },
                {
                    "name": "mEFG1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VM33-1",
            "evidence": [
                {
                    "id": "0111474",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111474"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111474"
}