{
    "disease_id": "DOID:0080127",
    "recommended_name": {
        "id": "DOID:0080127",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080127",
        "name": "mitochondrial DNA depletion syndrome 8a",
        "description": "A mitochondrial DNA depletion syndrome that is characterized by neonatal hypotonia, lactic acidosis, and neurologic deterioration, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the ribonucleotide reductase regulatory TP53 inducible subunit M2B gene on chromosome 8q22."
    },
    "synonyms": [
        {
            "id": "DOID:0080127",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080127",
            "name": "RRM2B-related mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy",
            "description": ""
        },
        {
            "id": "MONDO:0012792",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012792",
            "name": "mitochondrial DNA depletion syndrome 8a",
            "description": "Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the RRM2B gene."
        },
        {
            "id": "MONDO:0012792",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012792",
            "name": "RRM2B mitochondrial DNA depletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012792",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012792",
            "name": "mitochondrial DNA depletion syndrome caused by mutation in RRM2B",
            "description": ""
        },
        {
            "id": "MONDO:0012792",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012792",
            "name": "mitochondrial DNA depletion syndrome type 8a",
            "description": ""
        },
        {
            "id": "MONDO:0012792",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012792",
            "name": "mtDNA depletion syndrome, encephalomyopathic form with renal tubulopathy",
            "description": ""
        },
        {
            "id": "MONDO:0012792",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012792",
            "name": "MTDPS8A",
            "description": ""
        },
        {
            "id": "MONDO:0012792",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012792",
            "name": "RRM2B-related mitochondrial DNA depletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012792",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012792",
            "name": "encephalomyopathic type with renal tubulopathy",
            "description": ""
        },
        {
            "id": "MONDO:0012792",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012792",
            "name": "mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)",
            "description": ""
        },
        {
            "id": "MIM:612075",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612075",
            "name": "Mitochondrial DNA depletion syndrome 8A",
            "description": "Mitochondrial DNA depletion syndrome 8A"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080127"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080127",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080127",
            "categories": []
        },
        {
            "id": "MONDO:0012792",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012792",
            "categories": []
        },
        {
            "id": "MIM:612075",
            "database": "MIM",
            "url": "https://www.omim.org/entry/612075",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q7ZYW0-1",
            "uniprot_ac": "Q7ZYW0",
            "uniprot_id": "Q7ZYW0_DANRE",
            "refseq_ac": "NP_001007164",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "1.17.4.1",
                    "type": "synonym"
                },
                {
                    "name": "Ribonucleoside-diphosphate reductase subunit M2 B",
                    "type": "synonym"
                },
                {
                    "name": "ribonucleoside-diphosphate reductase subunit M2 B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "rrm2b",
                    "type": "recommended"
                },
                {
                    "name": "fb72h01",
                    "type": "synonym"
                },
                {
                    "name": "fb93b05",
                    "type": "synonym"
                },
                {
                    "name": "rrm2b",
                    "type": "synonym"
                },
                {
                    "name": "rrm2",
                    "type": "synonym"
                },
                {
                    "name": "si:zc215i13.5",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb72h01",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb93b05",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7ZYW0-1",
            "evidence": [
                {
                    "id": "0080127",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080127"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6PEE3-1",
            "uniprot_ac": "Q6PEE3",
            "uniprot_id": "RIR2B_MOUSE",
            "refseq_ac": "NP_955770",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ribonucleoside-diphosphate reductase subunit M2 B",
                    "type": "recommended"
                },
                {
                    "name": "1.17.4.1",
                    "type": "synonym"
                },
                {
                    "name": "TP53-inducible ribonucleotide reductase M2 B",
                    "type": "synonym"
                },
                {
                    "name": "p53-inducible ribonucleotide reductase small subunit 2-like protein",
                    "type": "synonym"
                },
                {
                    "name": "p53R2",
                    "type": "synonym"
                },
                {
                    "name": "ribonucleoside-diphosphate reductase subunit M2 B isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "ribonucleoside-diphosphate reductase subunit M2 B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rrm2b",
                    "type": "recommended"
                },
                {
                    "name": "P53r2",
                    "type": "synonym"
                },
                {
                    "name": "Rrm2b",
                    "type": "synonym"
                },
                {
                    "name": "p53R2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6PEE3-1",
            "evidence": [
                {
                    "id": "0080127",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080127"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7LG56-1",
            "uniprot_ac": "Q7LG56",
            "uniprot_id": "RIR2B_HUMAN",
            "refseq_ac": "NP_001165948",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ribonucleoside-diphosphate reductase subunit M2 B",
                    "type": "recommended"
                },
                {
                    "name": "1.17.4.1",
                    "type": "synonym"
                },
                {
                    "name": "TP53-inducible ribonucleotide reductase M2 B",
                    "type": "synonym"
                },
                {
                    "name": "p53-inducible ribonucleotide reductase small subunit 2 homolog",
                    "type": "synonym"
                },
                {
                    "name": "p53-inducible ribonucleotide reductase small subunit 2 short form beta",
                    "type": "synonym"
                },
                {
                    "name": "p53-inducible ribonucleotide reductase small subunit 2-like protein",
                    "type": "synonym"
                },
                {
                    "name": "p53R2",
                    "type": "synonym"
                },
                {
                    "name": "ribonucleoside-diphosphate reductase subunit M2 B isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "ribonucleoside-diphosphate reductase subunit M2 B",
                    "type": "synonym"
                },
                {
                    "name": "ribonucleotide reductase M2 B (TP53 inducible)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RRM2B",
                    "type": "recommended"
                },
                {
                    "name": "MTDPS8A",
                    "type": "synonym"
                },
                {
                    "name": "MTDPS8B",
                    "type": "synonym"
                },
                {
                    "name": "P53R2",
                    "type": "synonym"
                },
                {
                    "name": "RCDFRD",
                    "type": "synonym"
                },
                {
                    "name": "RRM2B",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7LG56-1",
            "evidence": [
                {
                    "id": "612075",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/612075"
                },
                {
                    "id": "0080127",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080127"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P49723-1",
            "uniprot_ac": "P49723",
            "uniprot_id": "RIR4_YEAST",
            "refseq_ac": "NP_011696",
            "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": "Ribonucleoside-diphosphate reductase small chain 2",
                    "type": "recommended"
                },
                {
                    "name": "1.17.4.1",
                    "type": "synonym"
                },
                {
                    "name": "Ribonucleotide reductase R2 subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "Ribonucleotide reductase small subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "ribonucleotide-diphosphate reductase subunit RNR4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RNR4",
                    "type": "recommended"
                },
                {
                    "name": "CRT3",
                    "type": "synonym"
                },
                {
                    "name": "PSO3",
                    "type": "synonym"
                },
                {
                    "name": "RNR4",
                    "type": "synonym"
                }
            ],
            "record_id": "P49723-1",
            "evidence": [
                {
                    "id": "0080127",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080127"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P09938-1",
            "uniprot_ac": "P09938",
            "uniprot_id": "RIR2_YEAST",
            "refseq_ac": "NP_012508",
            "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": "Ribonucleoside-diphosphate reductase small chain 1",
                    "type": "recommended"
                },
                {
                    "name": "1.17.4.1",
                    "type": "synonym"
                },
                {
                    "name": "Ribonucleotide reductase R2 subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "Ribonucleotide reductase small subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "ribonucleotide-diphosphate reductase subunit RNR2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RNR2",
                    "type": "recommended"
                },
                {
                    "name": "CRT6",
                    "type": "synonym"
                },
                {
                    "name": "J1271",
                    "type": "synonym"
                },
                {
                    "name": "RNR2",
                    "type": "synonym"
                }
            ],
            "record_id": "P09938-1",
            "evidence": [
                {
                    "id": "0080127",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080127"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4ADQ1-1",
            "uniprot_ac": "D4ADQ1",
            "uniprot_id": "D4ADQ1_RAT",
            "refseq_ac": "NP_001124015",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "ribonucleoside-diphosphate reductase",
                    "type": "recommended"
                },
                {
                    "name": "1.17.4.1",
                    "type": "synonym"
                },
                {
                    "name": "ribonucleoside-diphosphate reductase subunit M2 B",
                    "type": "synonym"
                },
                {
                    "name": "ribonucleotide reductase M2 B (TP53 inducible)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rrm2b",
                    "type": "recommended"
                },
                {
                    "name": "Rrm2b",
                    "type": "synonym"
                }
            ],
            "record_id": "D4ADQ1-1",
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                {
                    "id": "0080127",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0080127"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P48592-1",
            "uniprot_ac": "P48592",
            "uniprot_id": "RIR2_DROME",
            "refseq_ac": "NP_525111",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ribonucleoside-diphosphate reductase subunit M2",
                    "type": "recommended"
                },
                {
                    "name": "1.17.4.1",
                    "type": "synonym"
                },
                {
                    "name": "CG8975-PA",
                    "type": "synonym"
                },
                {
                    "name": "Ribonucleotide reductase small subunit",
                    "type": "synonym"
                },
                {
                    "name": "RnrS-PA",
                    "type": "synonym"
                },
                {
                    "name": "ribonucleoside diphosphate reductase small subunit",
                    "type": "synonym"
                },
                {
                    "name": "ribonucleoside-diphosphate reductase small subunit",
                    "type": "synonym"
                },
                {
                    "name": "ribonucleotide reductase small subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RnrS",
                    "type": "recommended"
                },
                {
                    "name": "CG8975",
                    "type": "synonym"
                },
                {
                    "name": "DmRNR2",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8975",
                    "type": "synonym"
                },
                {
                    "name": "R2",
                    "type": "synonym"
                },
                {
                    "name": "RNR-S",
                    "type": "synonym"
                },
                {
                    "name": "RNR2",
                    "type": "synonym"
                },
                {
                    "name": "RNRS",
                    "type": "synonym"
                },
                {
                    "name": "RNrS",
                    "type": "synonym"
                },
                {
                    "name": "RnRs",
                    "type": "synonym"
                },
                {
                    "name": "Rnr2",
                    "type": "synonym"
                },
                {
                    "name": "RnrS",
                    "type": "synonym"
                },
                {
                    "name": "Rnrs",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0118547.148",
                    "type": "synonym"
                },
                {
                    "name": "dRNR2",
                    "type": "synonym"
                },
                {
                    "name": "rnr2",
                    "type": "synonym"
                },
                {
                    "name": "rnrS",
                    "type": "synonym"
                }
            ],
            "record_id": "P48592-1",
            "evidence": [
                {
                    "id": "0080127",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080127"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080127"
}