{
    "disease_id": "DOID:0080122",
    "recommended_name": {
        "id": "DOID:0080122",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080122",
        "name": "Alpers-Huttenlocher syndrome",
        "description": "A mitochondrial DNA depletion syndrome that is characterized by a clinical triad of psychomotor retardation, intractable epilepsy, and liver failure in infants and young children, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the nuclear gene encoding mitochondrial DNA polymerase gamma (POLG) on chromosome 15q26."
    },
    "synonyms": [
        {
            "id": "DOID:0080122",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080122",
            "name": "Alper's syndrome",
            "description": ""
        },
        {
            "id": "DOID:0080122",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080122",
            "name": "Alpers disease",
            "description": ""
        },
        {
            "id": "DOID:0080122",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080122",
            "name": "Alpers progressive infantile poliodystrophy",
            "description": ""
        },
        {
            "id": "DOID:0080122",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080122",
            "name": "Alpers syndrome",
            "description": ""
        },
        {
            "id": "DOID:0080122",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080122",
            "name": "Alpers' disease or gray-matter degeneration",
            "description": ""
        },
        {
            "id": "DOID:0080122",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080122",
            "name": "progressive sclerosing poliodystrophy",
            "description": ""
        },
        {
            "id": "DOID:0080122",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080122",
            "name": "Diffuse Cerebral Sclerosis of Schilder",
            "description": ""
        },
        {
            "id": "DOID:0080122",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080122",
            "name": "mitochondrial DNA depletion syndrome 4a",
            "description": ""
        },
        {
            "id": "DOID:0080122",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080122",
            "name": "Polg disease",
            "description": ""
        },
        {
            "id": "MONDO:0008758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008758",
            "name": "mitochondrial DNA depletion syndrome 4a",
            "description": "A cerebrohepatopathy and a rare and severe form of mitochondrial DNA (mtDNA) depletion syndrome characterized by the triad of progressive developmental regression, intractable seizures, and hepatic failure."
        },
        {
            "id": "MONDO:0008758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008758",
            "name": "AHD",
            "description": ""
        },
        {
            "id": "MONDO:0008758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008758",
            "name": "AHS",
            "description": ""
        },
        {
            "id": "MONDO:0008758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008758",
            "name": "Alper syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008758",
            "name": "Alper's disease",
            "description": ""
        },
        {
            "id": "MONDO:0008758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008758",
            "name": "Alper's syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008758",
            "name": "Alpers Disease",
            "description": ""
        },
        {
            "id": "MONDO:0008758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008758",
            "name": "Alpers Huttenlocher disease",
            "description": ""
        },
        {
            "id": "MONDO:0008758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008758",
            "name": "Alpers Huttenlocher syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008758",
            "name": "Alpers disease",
            "description": ""
        },
        {
            "id": "MONDO:0008758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008758",
            "name": "Alpers progressive infantile poliodystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0008758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008758",
            "name": "Alpers progressive sclerosing poliodystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0008758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008758",
            "name": "Alpers syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008758",
            "name": "Alpers-Huttenlocher",
            "description": ""
        },
        {
            "id": "MONDO:0008758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008758",
            "name": "Alpers-Huttenlocher syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008758",
            "name": "mitochondrial DNA depletion syndrome 4A",
            "description": ""
        },
        {
            "id": "MONDO:0008758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008758",
            "name": "mitochondrial DNA depletion syndrome type 4a",
            "description": ""
        },
        {
            "id": "MONDO:0008758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008758",
            "name": "progressive neuronal degeneration of childhood with liver disease",
            "description": ""
        },
        {
            "id": "MONDO:0008758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008758",
            "name": "Alpers diffuse Degeneration of cerebral Grey matter with hepatic cirrhosis",
            "description": ""
        },
        {
            "id": "MONDO:0008758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008758",
            "name": "MTDPS4A",
            "description": ""
        },
        {
            "id": "MONDO:0008758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008758",
            "name": "PNDC",
            "description": ""
        },
        {
            "id": "MONDO:0008758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008758",
            "name": "Poliodystrophia cerebri progressiva",
            "description": ""
        },
        {
            "id": "MONDO:0008758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008758",
            "name": "diffuse cerebral degeneration in infancy",
            "description": ""
        },
        {
            "id": "MONDO:0008758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008758",
            "name": "infantile poliodystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0008758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008758",
            "name": "mitochondrial DNA depletion syndrome 4A (Alpers type)",
            "description": ""
        },
        {
            "id": "MONDO:0008758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008758",
            "name": "progressive cerebral poliodystrophy",
            "description": ""
        },
        {
            "id": "MIM:203700",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/203700",
            "name": "Mitochondrial DNA depletion syndrome 4A",
            "description": "Mitochondrial DNA depletion syndrome 4A"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080122"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080122",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080122",
            "categories": []
        },
        {
            "id": "MONDO:0008758",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008758",
            "categories": []
        },
        {
            "id": "MIM:203700",
            "database": "MIM",
            "url": "https://www.omim.org/entry/203700",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F8W5R6-1",
            "uniprot_ac": "F8W5R6",
            "uniprot_id": "F8W5R6_DANRE",
            "refseq_ac": "XP_001921130",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA polymerase subunit gamma-1",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.7",
                    "type": "synonym"
                },
                {
                    "name": "DNA polymerase subunit gamma-1 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "Mitochondrial DNA polymerase catalytic subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "polg",
                    "type": "recommended"
                },
                {
                    "name": "polg",
                    "type": "synonym"
                }
            ],
            "record_id": "F8W5R6-1",
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                {
                    "id": "0080122",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080122"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P54099-1",
            "uniprot_ac": "P54099",
            "uniprot_id": "DPOG1_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA polymerase subunit gamma-1",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.7",
                    "type": "synonym"
                },
                {
                    "name": "3'-5' exodeoxyribonuclease",
                    "type": "synonym"
                },
                {
                    "name": "3.1.11.-",
                    "type": "synonym"
                },
                {
                    "name": "4.2.99.-",
                    "type": "synonym"
                },
                {
                    "name": "5'-deoxyribose-phosphate lyase",
                    "type": "synonym"
                },
                {
                    "name": "Mitochondrial DNA polymerase catalytic subunit",
                    "type": "synonym"
                },
                {
                    "name": "PolG-alpha",
                    "type": "synonym"
                },
                {
                    "name": "PolgA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Polg",
                    "type": "recommended"
                },
                {
                    "name": "Polg1",
                    "type": "synonym"
                }
            ],
            "record_id": "P54099-1",
            "evidence": [
                {
                    "id": "0080122",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080122"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P55088-1",
            "uniprot_ac": "P55088",
            "uniprot_id": "AQP4_MOUSE",
            "refseq_ac": "NP_001295570",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Aquaporin-4",
                    "type": "recommended"
                },
                {
                    "name": "AQP-4",
                    "type": "synonym"
                },
                {
                    "name": "MIWC",
                    "type": "synonym"
                },
                {
                    "name": "Mercurial-insensitive water channel",
                    "type": "synonym"
                },
                {
                    "name": "WCH4",
                    "type": "synonym"
                },
                {
                    "name": "aquaporin-4 isoform M23",
                    "type": "synonym"
                },
                {
                    "name": "mercurial-insensitive water channel",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Aqp4",
                    "type": "recommended"
                },
                {
                    "name": "Aqp4",
                    "type": "synonym"
                },
                {
                    "name": "WCH4",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0080122",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080122"
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            ]
        },
        {
            "uniprot_canonical_ac": "P54098-1",
            "uniprot_ac": "P54098",
            "uniprot_id": "DPOG1_HUMAN",
            "refseq_ac": "NP_001119603",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA polymerase subunit gamma-1",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.7",
                    "type": "synonym"
                },
                {
                    "name": "3'-5' exodeoxyribonuclease",
                    "type": "synonym"
                },
                {
                    "name": "3.1.11.-",
                    "type": "synonym"
                },
                {
                    "name": "4.2.99.-",
                    "type": "synonym"
                },
                {
                    "name": "5'-deoxyribose-phosphate lyase",
                    "type": "synonym"
                },
                {
                    "name": "DNA polymerase subunit gamma-1",
                    "type": "synonym"
                },
                {
                    "name": "Mitochondrial DNA polymerase catalytic subunit",
                    "type": "synonym"
                },
                {
                    "name": "PolG-alpha",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial DNA polymerase catalytic subunit",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial polymerase gamma catalytic subunit",
                    "type": "synonym"
                },
                {
                    "name": "polymerase (DNA directed), gamma",
                    "type": "synonym"
                },
                {
                    "name": "polymerase (DNA) gamma, catalytic subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "POLG",
                    "type": "recommended"
                },
                {
                    "name": "MDP1",
                    "type": "synonym"
                },
                {
                    "name": "MIRAS",
                    "type": "synonym"
                },
                {
                    "name": "MTDPS4A",
                    "type": "synonym"
                },
                {
                    "name": "MTDPS4B",
                    "type": "synonym"
                },
                {
                    "name": "PEO",
                    "type": "synonym"
                },
                {
                    "name": "POLG1",
                    "type": "synonym"
                },
                {
                    "name": "POLGA",
                    "type": "synonym"
                },
                {
                    "name": "POLG",
                    "type": "synonym"
                },
                {
                    "name": "PolG-alpha",
                    "type": "synonym"
                },
                {
                    "name": "SANDO",
                    "type": "synonym"
                },
                {
                    "name": "SCAE",
                    "type": "synonym"
                }
            ],
            "record_id": "P54098-1",
            "evidence": [
                {
                    "id": "203700",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/203700"
                },
                {
                    "id": "0080122",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080122"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P15801-1",
            "uniprot_ac": "P15801",
            "uniprot_id": "DPOG_YEAST",
            "refseq_ac": "NP_014975",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA polymerase gamma",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.7",
                    "type": "synonym"
                },
                {
                    "name": "DNA-directed DNA polymerase gamma MIP1",
                    "type": "synonym"
                },
                {
                    "name": "Mitochondrial DNA polymerase catalytic subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MIP1",
                    "type": "recommended"
                },
                {
                    "name": "MIP1",
                    "type": "synonym"
                }
            ],
            "record_id": "P15801-1",
            "evidence": [
                {
                    "id": "0080122",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080122"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P0CD91-1",
            "uniprot_ac": "P0CD91",
            "uniprot_id": "AQY1_YEAST",
            "refseq_ac": "NP_015518",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
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                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Aquaporin-1",
                    "type": "recommended"
                },
                {
                    "name": "Aqy1p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AQY1",
                    "type": "recommended"
                },
                {
                    "name": "AQY1-2",
                    "type": "synonym"
                },
                {
                    "name": "AQY1",
                    "type": "synonym"
                },
                {
                    "name": "P9677.5",
                    "type": "synonym"
                }
            ],
            "record_id": "P0CD91-1",
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                {
                    "id": "0080122",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080122"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9QYV8-1",
            "uniprot_ac": "Q9QYV8",
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            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                {
                    "name": "DNA polymerase subunit gamma-1",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.7",
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                },
                {
                    "name": "3'-5' exodeoxyribonuclease",
                    "type": "synonym"
                },
                {
                    "name": "3.1.11.-",
                    "type": "synonym"
                },
                {
                    "name": "4.2.99.-",
                    "type": "synonym"
                },
                {
                    "name": "5'-deoxyribose-phosphate lyase",
                    "type": "synonym"
                },
                {
                    "name": "DNA polymerase subunit gamma-1",
                    "type": "synonym"
                },
                {
                    "name": "DNA-directed DNA polymerase gamma",
                    "type": "synonym"
                },
                {
                    "name": "Mitochondrial DNA polymerase catalytic subunit",
                    "type": "synonym"
                },
                {
                    "name": "PolG-alpha",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial DNA polymerase catalytic subunit",
                    "type": "synonym"
                },
                {
                    "name": "polG-alpha",
                    "type": "synonym"
                },
                {
                    "name": "polymerase (DNA directed), gamma",
                    "type": "synonym"
                },
                {
                    "name": "polymerase (DNA) gamma, catalytic subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Polg",
                    "type": "recommended"
                },
                {
                    "name": "Mip1",
                    "type": "synonym"
                },
                {
                    "name": "Polg1",
                    "type": "synonym"
                },
                {
                    "name": "Polg",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9QYV8-1",
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                {
                    "id": "0080122",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080122"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P47863-1",
            "uniprot_ac": "P47863",
            "uniprot_id": "AQP4_RAT",
            "refseq_ac": "NP_001135838",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Aquaporin-4",
                    "type": "recommended"
                },
                {
                    "name": "AQP-4",
                    "type": "synonym"
                },
                {
                    "name": "MIWC",
                    "type": "synonym"
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                {
                    "name": "Mercurial-insensitive water channel",
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                },
                {
                    "name": "WCH4",
                    "type": "synonym"
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                {
                    "name": "aquaporin-4 isoform M23",
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                {
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                    "name": "AQP-4",
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                    "name": "Aqp4",
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                    "name": "WCH4",
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                    "name": "DNA polymerase gamma",
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                    "name": "Protein tamas",
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                    "name": "lethal 14 in the black-reduced region",
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                    "name": "lethal 5 in the black-reduced region",
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                    "name": "mitochondrial gamma polymerase",
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                    "name": "mtDNA pol-gamma",
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                    "name": "AAC47658",
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                    "name": "DNApolG1",
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                {
                    "name": "POLG",
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                {
                    "name": "Pol gamma",
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                {
                    "name": "PolG1",
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                    "name": "PolG",
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                    "name": "PolgA",
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                    "name": "Polgamma-alpha",
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                {
                    "name": "Polgamma",
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                {
                    "name": "Polg",
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                {
                    "name": "Tam",
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                {
                    "name": "anon-34Dc",
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                    "name": "br5",
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                    "name": "cDNA 2",
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                {
                    "name": "l(2)34Dc",
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                {
                    "name": "l(2)br14",
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                    "name": "l(2)br5",
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                    "name": "pol gamma-alpha",
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                {
                    "name": "pol gamma",
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                {
                    "name": "polgamma-alpha",
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                {
                    "name": "polgamma",
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                {
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                    "name": "anon-48Aa",
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                {
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                    "name": "entomoglyceroporin 1",
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                {
                    "name": "Dmel\\CG5398",
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                {
                    "name": "Dmel_CG5398",
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                {
                    "name": "Eglp1",
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                {
                    "name": "anon-WO0140519.151",
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                    "id": "0080122",
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                    "name": "Neurogenic protein big brain",
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                    "name": "Big brain",
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                {
                    "name": "bib-PA",
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                {
                    "name": "big brain, isoform A",
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                    "name": "bib",
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                {
                    "name": "BIB_DROME",
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                    "name": "Bib",
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                {
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                    "name": "DmBIB",
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                {
                    "name": "Dmel_CG4722",
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                    "name": "bib",
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                {
                    "name": "l(2)neo66",
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                {
                    "name": "l(2)neo91",
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                {
                    "name": "m-bib",
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    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080122"
}