{
    "disease_id": "DOID:0080121",
    "recommended_name": {
        "id": "DOID:0080121",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080121",
        "name": "mitochondrial DNA depletion syndrome 3",
        "description": "A mitochondrial DNA depletion syndrome that is characterized by onset in infancy of progressive liver failure and neurologic abnormalities, hypoglycemia, and increased lactate in body fluids, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the deoxyguanosine kinase gene on chromosome 2p13."
    },
    "synonyms": [
        {
            "id": "DOID:0080121",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080121",
            "name": "deoxyguanosine kinase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009636",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009636",
            "name": "mitochondrial DNA depletion syndrome 3 (hepatocerebral type)",
            "description": "Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the DGUOK gene."
        },
        {
            "id": "MONDO:0009636",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009636",
            "name": "DGUOK mitochondrial DNA depletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009636",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009636",
            "name": "mitochondrial DNA depletion syndrome 3",
            "description": ""
        },
        {
            "id": "MONDO:0009636",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009636",
            "name": "mitochondrial DNA depletion syndrome 3 (hepatocerebral type)",
            "description": ""
        },
        {
            "id": "MONDO:0009636",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009636",
            "name": "mitochondrial DNA depletion syndrome caused by mutation in DGUOK",
            "description": ""
        },
        {
            "id": "MONDO:0009636",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009636",
            "name": "mitochondrial DNA depletion syndrome type 3",
            "description": ""
        },
        {
            "id": "MONDO:0009636",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009636",
            "name": "MTDPS3",
            "description": ""
        },
        {
            "id": "MIM:251880",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/251880",
            "name": "Mitochondrial DNA depletion syndrome 3",
            "description": "Mitochondrial DNA depletion syndrome 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080121"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080121",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080121",
            "categories": []
        },
        {
            "id": "MONDO:0009636",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009636",
            "categories": []
        },
        {
            "id": "MIM:251880",
            "database": "MIM",
            "url": "https://www.omim.org/entry/251880",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A5WUY2-1",
            "uniprot_ac": "A5WUY2",
            "uniprot_id": "A5WUY2_DANRE",
            "refseq_ac": "NP_001093561",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "deoxyguanosine kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.1.113",
                    "type": "synonym"
                },
                {
                    "name": "deoxyguanosine kinase, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "dguok",
                    "type": "recommended"
                },
                {
                    "name": "dguok",
                    "type": "synonym"
                },
                {
                    "name": "zgc:86625",
                    "type": "synonym"
                }
            ],
            "record_id": "A5WUY2-1",
            "evidence": [
                {
                    "id": "0080121",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080121"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M1P841-1",
            "uniprot_ac": "A0A8M1P841",
            "uniprot_id": "A0A8M1P841_DANRE",
            "refseq_ac": "NP_001313499",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Uncharacterized protein LOC563199",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein LOC563199",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "si:ch211-120k19.1",
                    "type": "recommended"
                },
                {
                    "name": "si:ch211-120k19.1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1P841-1",
            "evidence": [
                {
                    "id": "0080121",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080121"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6DGV7-1",
            "uniprot_ac": "Q6DGV7",
            "uniprot_id": "M17L2_DANRE",
            "refseq_ac": "NP_001002567",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mpv17-like protein 2",
                    "type": "recommended"
                },
                {
                    "name": "MPV17 mitochondrial membrane protein-like 2",
                    "type": "synonym"
                },
                {
                    "name": "mpv17-like protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mpv17l2",
                    "type": "recommended"
                },
                {
                    "name": "mpv17l2",
                    "type": "synonym"
                },
                {
                    "name": "zgc:103505",
                    "type": "synonym"
                },
                {
                    "name": "zgc:92754",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6DGV7-1",
            "evidence": [
                {
                    "id": "0080121",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080121"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5TZ51-1",
            "uniprot_ac": "Q5TZ51",
            "uniprot_id": "MPV17_DANRE",
            "refseq_ac": "NP_957459",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial inner membrane protein Mpv17",
                    "type": "recommended"
                },
                {
                    "name": "MpV17 mitochondrial inner membrane protein",
                    "type": "synonym"
                },
                {
                    "name": "MpV17 transgene, murine homolog, glomerulosclerosis",
                    "type": "synonym"
                },
                {
                    "name": "Protein Mpv17",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial inner membrane protein Mpv17",
                    "type": "synonym"
                },
                {
                    "name": "protein Mpv17",
                    "type": "synonym"
                },
                {
                    "name": "transparent",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mpv17",
                    "type": "recommended"
                },
                {
                    "name": "mpv17",
                    "type": "synonym"
                },
                {
                    "name": "roy",
                    "type": "synonym"
                },
                {
                    "name": "zgc:63573",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5TZ51-1",
            "evidence": [
                {
                    "id": "0080121",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080121"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P19258-1",
            "uniprot_ac": "P19258",
            "uniprot_id": "MPV17_MOUSE",
            "refseq_ac": "NP_001281253",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial inner membrane protein Mpv17",
                    "type": "recommended"
                },
                {
                    "name": "Mpv-17",
                    "type": "synonym"
                },
                {
                    "name": "Protein Mpv17",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial inner membrane protein Mpv17 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial inner membrane protein Mpv17",
                    "type": "synonym"
                },
                {
                    "name": "protein Mpv17",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mpv17",
                    "type": "recommended"
                },
                {
                    "name": "Mpv17",
                    "type": "synonym"
                },
                {
                    "name": "Tg.Mpv17",
                    "type": "synonym"
                }
            ],
            "record_id": "P19258-1",
            "evidence": [
                {
                    "id": "0080121",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080121"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9QX60-1",
            "uniprot_ac": "Q9QX60",
            "uniprot_id": "DGUOK_MOUSE",
            "refseq_ac": "NP_038792",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Deoxyguanosine kinase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2.7.1.113",
                    "type": "synonym"
                },
                {
                    "name": "2.7.1.76",
                    "type": "synonym"
                },
                {
                    "name": "Deoxyadenosine kinase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "deoxyadenosine kinase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "deoxyguanosine kinase, mitochondrial isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "deoxyguanosine kinase, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dguok",
                    "type": "recommended"
                },
                {
                    "name": "Dgk",
                    "type": "synonym"
                },
                {
                    "name": "Dguok",
                    "type": "synonym"
                },
                {
                    "name": "dGK1",
                    "type": "synonym"
                },
                {
                    "name": "dGK2",
                    "type": "synonym"
                },
                {
                    "name": "dGK3",
                    "type": "synonym"
                },
                {
                    "name": "dGK",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9QX60-1",
            "evidence": [
                {
                    "id": "0080121",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080121"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P42925-1",
            "uniprot_ac": "P42925",
            "uniprot_id": "PXMP2_MOUSE",
            "refseq_ac": "NP_033019",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peroxisomal membrane protein 2",
                    "type": "recommended"
                },
                {
                    "name": "22 kDa peroxisomal membrane protein",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal membrane protein 2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal membrane protein 2, 22 kDa",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pxmp2",
                    "type": "recommended"
                },
                {
                    "name": "PMP22",
                    "type": "synonym"
                },
                {
                    "name": "Pmp22",
                    "type": "synonym"
                },
                {
                    "name": "Pxmp2",
                    "type": "synonym"
                }
            ],
            "record_id": "P42925-1",
            "evidence": [
                {
                    "id": "0080121",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080121"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q99MS3-1",
            "uniprot_ac": "Q99MS3",
            "uniprot_id": "MP17L_MOUSE",
            "refseq_ac": "NP_001276491",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mpv17-like protein",
                    "type": "recommended"
                },
                {
                    "name": "M-LP",
                    "type": "synonym"
                },
                {
                    "name": "mpv17-like protein isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "mpv17-like protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mpv17l",
                    "type": "recommended"
                },
                {
                    "name": "M-LP",
                    "type": "synonym"
                },
                {
                    "name": "Mpv17l",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99MS3-1",
            "evidence": [
                {
                    "id": "0080121",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080121"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8VIK2-1",
            "uniprot_ac": "Q8VIK2",
            "uniprot_id": "M17L2_MOUSE",
            "refseq_ac": "NP_898993",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mpv17-like protein 2",
                    "type": "recommended"
                },
                {
                    "name": "mpv17-like protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mpv17l2",
                    "type": "recommended"
                },
                {
                    "name": "Fksg24",
                    "type": "synonym"
                },
                {
                    "name": "Mpv17l2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8VIK2-1",
            "evidence": [
                {
                    "id": "0080121",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080121"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q16854-1",
            "uniprot_ac": "Q16854",
            "uniprot_id": "DGUOK_HUMAN",
            "refseq_ac": "NP_001305788",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Deoxyguanosine kinase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2.7.1.113",
                    "type": "synonym"
                },
                {
                    "name": "2.7.1.76",
                    "type": "synonym"
                },
                {
                    "name": "Deoxyadenosine kinase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "deoxyadenosine kinase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "deoxyguanosine kinase, mitochondrial isoform c precursor",
                    "type": "synonym"
                },
                {
                    "name": "deoxyguanosine kinase, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DGUOK",
                    "type": "recommended"
                },
                {
                    "name": "DGK",
                    "type": "synonym"
                },
                {
                    "name": "DGUOK",
                    "type": "synonym"
                },
                {
                    "name": "MTDPS3",
                    "type": "synonym"
                },
                {
                    "name": "NCPH1",
                    "type": "synonym"
                },
                {
                    "name": "NCPH",
                    "type": "synonym"
                },
                {
                    "name": "PEOB4",
                    "type": "synonym"
                },
                {
                    "name": "dGK",
                    "type": "synonym"
                }
            ],
            "record_id": "Q16854-1",
            "evidence": [
                {
                    "id": "251880",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/251880"
                },
                {
                    "id": "0080121",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080121"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q06563-1",
            "uniprot_ac": "Q06563",
            "uniprot_id": "SYM1_YEAST",
            "refseq_ac": "NP_013352",
            "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": "Protein SYM1",
                    "type": "recommended"
                },
                {
                    "name": "Stress-inducible yeast MPV17 protein 1",
                    "type": "synonym"
                },
                {
                    "name": "ethanol metabolism protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SYM1",
                    "type": "recommended"
                },
                {
                    "name": "SYM1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q06563-1",
            "evidence": [
                {
                    "id": "0080121",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080121"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZDE4-1",
            "uniprot_ac": "D3ZDE4",
            "uniprot_id": "D3ZDE4_RAT",
            "refseq_ac": "XP_038963265",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Deoxyguanosine kinase",
                    "type": "synonym"
                },
                {
                    "name": "deoxyguanosine kinase, mitochondrial isoform X2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dguok",
                    "type": "recommended"
                },
                {
                    "name": "Dguok",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZDE4-1",
            "evidence": [
                {
                    "id": "0080121",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080121"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6GL80-1",
            "uniprot_ac": "A0A8I6GL80",
            "uniprot_id": "A0A8I6GL80_RAT",
            "refseq_ac": "XP_008765689",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "MPV17 mitochondrial inner membrane protein like",
                    "type": "synonym"
                },
                {
                    "name": "mpv17-like protein isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mpv17l",
                    "type": "recommended"
                },
                {
                    "name": "Mpv17l",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6GL80-1",
            "evidence": [
                {
                    "id": "0080121",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080121"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5BK62-1",
            "uniprot_ac": "Q5BK62",
            "uniprot_id": "MPV17_RAT",
            "refseq_ac": "NP_001091710",
            "glycoprotein": "no",
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                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial inner membrane protein Mpv17",
                    "type": "recommended"
                },
                {
                    "name": "MPV17 mitochondrial membrane protein-like",
                    "type": "synonym"
                },
                {
                    "name": "MpV17 mitochondrial inner membrane protein",
                    "type": "synonym"
                },
                {
                    "name": "Mpv17 transgene, kidney disease mutant-like",
                    "type": "synonym"
                },
                {
                    "name": "Protein Mpv17",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial inner membrane protein Mpv17",
                    "type": "synonym"
                },
                {
                    "name": "protein Mpv17",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mpv17",
                    "type": "recommended"
                },
                {
                    "name": "Mpv17l",
                    "type": "synonym"
                },
                {
                    "name": "Mpv17",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5BK62-1",
            "evidence": [
                {
                    "id": "0080121",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080121"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A9N8-1",
            "uniprot_ac": "D4A9N8",
            "uniprot_id": "D4A9N8_RAT",
            "refseq_ac": "NP_001099542",
            "glycoprotein": "no",
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                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "MPV17 mitochondrial inner membrane protein like 2",
                    "type": "synonym"
                },
                {
                    "name": "MPV17 mitochondrial membrane protein-like 2",
                    "type": "synonym"
                },
                {
                    "name": "mpv17-like protein 2 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "mpv17-like protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mpv17l2",
                    "type": "recommended"
                },
                {
                    "name": "Mpv17l2",
                    "type": "synonym"
                },
                {
                    "name": "RGD1308064",
                    "type": "synonym"
                }
            ],
            "record_id": "D4A9N8-1",
            "evidence": [
                {
                    "id": "0080121",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080121"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P41135-1",
            "uniprot_ac": "P41135",
            "uniprot_id": "ID1_RAT",
            "refseq_ac": "NP_036929",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA-binding protein inhibitor ID-1",
                    "type": "recommended"
                },
                {
                    "name": "DNA-binding protein inhibitor ID-1",
                    "type": "synonym"
                },
                {
                    "name": "Inhibitor of DNA binding 1 helix-loop-helix protein (splice varaiation)",
                    "type": "synonym"
                },
                {
                    "name": "Inhibitor of DNA binding 1, helix-loop-helix protein (splice variation)",
                    "type": "synonym"
                },
                {
                    "name": "Inhibitor of DNA binding 1",
                    "type": "synonym"
                },
                {
                    "name": "Inhibitor of differentiation 1",
                    "type": "synonym"
                },
                {
                    "name": "inhibitor of DNA binding 1, HLH protein",
                    "type": "synonym"
                },
                {
                    "name": "inhibitor of DNA binding 1, dominant negative helix-loop-helix protein",
                    "type": "synonym"
                },
                {
                    "name": "inhibitor of differentiation 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Id1",
                    "type": "recommended"
                },
                {
                    "name": "ID125A",
                    "type": "synonym"
                },
                {
                    "name": "Id-1",
                    "type": "synonym"
                },
                {
                    "name": "Id1",
                    "type": "synonym"
                },
                {
                    "name": "Idb1",
                    "type": "synonym"
                }
            ],
            "record_id": "P41135-1",
            "evidence": [
                {
                    "id": "0080121",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080121"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W587-1",
            "uniprot_ac": "Q9W587",
            "uniprot_id": "Q9W587_DROME",
            "refseq_ac": "NP_569918",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein sym1",
                    "type": "recommended"
                },
                {
                    "name": "CG14778-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG14778",
                    "type": "recommended"
                },
                {
                    "name": "CG144778",
                    "type": "synonym"
                },
                {
                    "name": "CG14778",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG14778",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG14778",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W587-1",
            "evidence": [
                {
                    "id": "0080121",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080121"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A8JNT1-1",
            "uniprot_ac": "A8JNT1",
            "uniprot_id": "A8JNT1_DROME",
            "refseq_ac": "NP_001097610",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mpv17-like protein",
                    "type": "recommended"
                },
                {
                    "name": "CG12355-PB",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG12355",
                    "type": "recommended"
                },
                {
                    "name": "CG12355",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG12355",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG12355",
                    "type": "synonym"
                },
                {
                    "name": "MP17L",
                    "type": "synonym"
                },
                {
                    "name": "MP17",
                    "type": "synonym"
                }
            ],
            "record_id": "A8JNT1-1",
            "evidence": [
                {
                    "id": "0080121",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080121"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VTQ1-1",
            "uniprot_ac": "Q9VTQ1",
            "uniprot_id": "Q9VTQ1_DROME",
            "refseq_ac": "NP_648518",
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                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mpv17-like protein 2",
                    "type": "recommended"
                },
                {
                    "name": "CG5906-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BcDNA:AT16953",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:AT16953",
                    "type": "synonym"
                },
                {
                    "name": "CG5906",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5906",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5906",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VTQ1-1",
            "evidence": [
                {
                    "id": "0080121",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080121"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VN75-1",
            "uniprot_ac": "Q9VN75",
            "uniprot_id": "Q9VN75_DROME",
            "refseq_ac": "NP_649511",
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                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG2022-PB",
                    "type": "synonym"
                },
                {
                    "name": "Pasang lhamu",
                    "type": "synonym"
                },
                {
                    "name": "pasang lhamu",
                    "type": "synonym"
                },
                {
                    "name": "plh-PB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "plh",
                    "type": "recommended"
                },
                {
                    "name": "CG2022",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG2022",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG2022",
                    "type": "synonym"
                },
                {
                    "name": "Mpv17-like protein",
                    "type": "synonym"
                },
                {
                    "name": "plh",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VN75-1",
            "evidence": [
                {
                    "id": "0080121",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080121"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9V492-1",
            "uniprot_ac": "Q9V492",
            "uniprot_id": "MPV17_DROME",
            "refseq_ac": "NP_651944",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial inner membrane protein Mpv17",
                    "type": "recommended"
                },
                {
                    "name": "CG11077-PA",
                    "type": "synonym"
                },
                {
                    "name": "Mpv17-PA",
                    "type": "synonym"
                },
                {
                    "name": "Mpv17-like protein",
                    "type": "synonym"
                },
                {
                    "name": "dMpv17",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial inner membrane protein MPV17",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mpv17",
                    "type": "recommended"
                },
                {
                    "name": "CG11077",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG11077",
                    "type": "synonym"
                },
                {
                    "name": "MPV17",
                    "type": "synonym"
                },
                {
                    "name": "Mpv17",
                    "type": "synonym"
                },
                {
                    "name": "PMP22",
                    "type": "synonym"
                },
                {
                    "name": "dMpv17",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9V492-1",
            "evidence": [
                {
                    "id": "0080121",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080121"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VZM6-1",
            "uniprot_ac": "Q9VZM6",
            "uniprot_id": "Q9VZM6_DROME",
            "refseq_ac": "NP_647831",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mpv17-like protein 2",
                    "type": "recommended"
                },
                {
                    "name": "CG32262-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CG10854",
                    "type": "recommended"
                },
                {
                    "name": "CG10854",
                    "type": "synonym"
                },
                {
                    "name": "CG32262",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG32262",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG32262",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VZM6-1",
            "evidence": [
                {
                    "id": "0080121",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080121"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VYD6-1",
            "uniprot_ac": "Q9VYD6",
            "uniprot_id": "Q9VYD6_DROME",
            "refseq_ac": "NP_001285209",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mpv17-like protein 2",
                    "type": "recommended"
                },
                {
                    "name": "CG1662-PB",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG1662",
                    "type": "recommended"
                },
                {
                    "name": "CG1662",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1662",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG1662",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VYD6-1",
            "evidence": [
                {
                    "id": "0080121",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080121"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W588-1",
            "uniprot_ac": "Q9W588",
            "uniprot_id": "Q9W588_DROME",
            "refseq_ac": "NP_001162634",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mpv17-like protein",
                    "type": "recommended"
                },
                {
                    "name": "CG14777-PC",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG14777",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:RH63812",
                    "type": "synonym"
                },
                {
                    "name": "CG14777",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG14777",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG14777",
                    "type": "synonym"
                },
                {
                    "name": "EG:80H7.10",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W588-1",
            "evidence": [
                {
                    "id": "0080121",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080121"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q567V2-1",
            "uniprot_ac": "Q567V2",
            "uniprot_id": "M17L2_HUMAN",
            "refseq_ac": "NP_116072",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mpv17-like protein 2",
                    "type": "recommended"
                },
                {
                    "name": "MPV17 mitochondrial membrane protein-like 2",
                    "type": "synonym"
                },
                {
                    "name": "mpv17-like protein 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "mpv17-like protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MPV17L2",
                    "type": "recommended"
                },
                {
                    "name": "FKSG24",
                    "type": "synonym"
                },
                {
                    "name": "MPV17L2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q567V2-1",
            "evidence": [
                {
                    "id": "0080121",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080121"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q2QL34-1",
            "uniprot_ac": "Q2QL34",
            "uniprot_id": "MP17L_HUMAN",
            "refseq_ac": "NP_001121895",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mpv17-like protein",
                    "type": "recommended"
                },
                {
                    "name": "Human Mpv17-like protein",
                    "type": "synonym"
                },
                {
                    "name": "M-LP homolog",
                    "type": "synonym"
                },
                {
                    "name": "M-LPH",
                    "type": "synonym"
                },
                {
                    "name": "MPV17 mitochondrial membrane protein-like",
                    "type": "synonym"
                },
                {
                    "name": "Mpv17-like protein type 1",
                    "type": "synonym"
                },
                {
                    "name": "Mpv17-like protein type 2",
                    "type": "synonym"
                },
                {
                    "name": "mpv17-like protein isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MPV17L",
                    "type": "recommended"
                },
                {
                    "name": "M-LPH1",
                    "type": "synonym"
                },
                {
                    "name": "M-LPH2",
                    "type": "synonym"
                },
                {
                    "name": "M-LPH",
                    "type": "synonym"
                },
                {
                    "name": "MLPH1",
                    "type": "synonym"
                },
                {
                    "name": "MLPH2",
                    "type": "synonym"
                },
                {
                    "name": "MPV17L1",
                    "type": "synonym"
                },
                {
                    "name": "MPV17L",
                    "type": "synonym"
                }
            ],
            "record_id": "Q2QL34-1",
            "evidence": [
                {
                    "id": "0080121",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080121"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P39210-1",
            "uniprot_ac": "P39210",
            "uniprot_id": "MPV17_HUMAN",
            "refseq_ac": "NP_002428",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial inner membrane protein Mpv17",
                    "type": "recommended"
                },
                {
                    "name": "MPV17, mitochondrial inner membrane protein",
                    "type": "synonym"
                },
                {
                    "name": "MpV17 mitochondrial inner membrane protein",
                    "type": "synonym"
                },
                {
                    "name": "Mpv17, human homolog of glomerulosclerosis and nephrotic syndrome",
                    "type": "synonym"
                },
                {
                    "name": "Protein Mpv17",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial inner membrane protein Mpv17 isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "protein Mpv17",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MPV17",
                    "type": "recommended"
                },
                {
                    "name": "CMT2EE",
                    "type": "synonym"
                },
                {
                    "name": "MPV17",
                    "type": "synonym"
                },
                {
                    "name": "MTDPS6",
                    "type": "synonym"
                },
                {
                    "name": "SYM1",
                    "type": "synonym"
                }
            ],
            "record_id": "P39210-1",
            "evidence": [
                {
                    "id": "0080121",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080121"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080121"
}