{
    "disease_id": "DOID:0070448",
    "recommended_name": {
        "id": "DOID:0070448",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070448",
        "name": "mitochondrial DNA depletion syndrome 17",
        "description": "A mitochondrial DNA depletion syndrome characterized by childhood onset of encephalopathy, stroke-like episodes, lactic acidosis, hypocitrullinemia, and multiple mitochondrial oxidative phosphorylation deficiencies that has_material_basis_in homozygous mutation in the MRM2 gene on chromosome 7p22.3. Phenotype is similar to MELAS syndrome."
    },
    "synonyms": [
        {
            "id": "MONDO:0032815",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032815",
            "name": "mitochondrial DNA depletion syndrome 17",
            "description": ""
        },
        {
            "id": "MONDO:0032815",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032815",
            "name": "MTDPS17",
            "description": ""
        },
        {
            "id": "MIM:618567",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618567",
            "name": "Mitochondrial DNA depletion syndrome 17",
            "description": "Mitochondrial DNA depletion syndrome 17"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070448"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070448",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070448",
            "categories": []
        },
        {
            "id": "MONDO:0032815",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032815",
            "categories": []
        },
        {
            "id": "MIM:618567",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618567",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AB13A421-1",
            "uniprot_ac": "A0AB13A421",
            "uniprot_id": "A0AB13A421_DANRE",
            "refseq_ac": "NP_001373504",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "rRNA methyltransferase 2, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "16S rRNA (uridine(1369)-2'-O)-methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "16S rRNA [Um1369] 2'-O-methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "FtsJ RNA methyltransferase homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "FtsJ homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "Protein ftsJ homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "rRNA methyltransferase 2, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mrm2",
                    "type": "recommended"
                },
                {
                    "name": "ftsj2",
                    "type": "synonym"
                },
                {
                    "name": "mrm2",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-72a22.3",
                    "type": "synonym"
                },
                {
                    "name": "wu:fa18a02",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB13A421-1",
            "evidence": [
                {
                    "id": "0070448",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070448"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9CPY0-1",
            "uniprot_ac": "Q9CPY0",
            "uniprot_id": "MRM2_MOUSE",
            "refseq_ac": "NP_080786",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "rRNA methyltransferase 2, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "16S rRNA (uridine(1369)-2'-O)-methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "16S rRNA [Um1369] 2'-O-methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "2.1.1.-",
                    "type": "synonym"
                },
                {
                    "name": "FtsJ RNA methyltransferase homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "FtsJ homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "Protein ftsJ homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "protein ftsJ homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "putative ribosomal RNA methyltransferase 2",
                    "type": "synonym"
                },
                {
                    "name": "rRNA (uridine-2'-O-)-methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "rRNA methyltransferase 2, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mrm2",
                    "type": "recommended"
                },
                {
                    "name": "2310037B18Rik",
                    "type": "synonym"
                },
                {
                    "name": "Ftsj2",
                    "type": "synonym"
                },
                {
                    "name": "Mrm2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9CPY0-1",
            "evidence": [
                {
                    "id": "0070448",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070448"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UI43-1",
            "uniprot_ac": "Q9UI43",
            "uniprot_id": "MRM2_HUMAN",
            "refseq_ac": "NP_037525",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "rRNA methyltransferase 2, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "16S rRNA (uridine(1369)-2'-O)-methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "16S rRNA [Um1369] 2'-O-methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "2.1.1.-",
                    "type": "synonym"
                },
                {
                    "name": "FtsJ RNA methyltransferase homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "FtsJ homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "MRM2 RNA methyltransferase homolog",
                    "type": "synonym"
                },
                {
                    "name": "Protein ftsJ homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "cell division protein FtsJ",
                    "type": "synonym"
                },
                {
                    "name": "epididymis luminal protein 97",
                    "type": "synonym"
                },
                {
                    "name": "protein ftsJ homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "putative ribosomal RNA methyltransferase 2",
                    "type": "synonym"
                },
                {
                    "name": "rRNA (uridine-2'-O-)-methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "rRNA methyltransferase 2, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MRM2",
                    "type": "recommended"
                },
                {
                    "name": "FJH1",
                    "type": "synonym"
                },
                {
                    "name": "FTSJ2",
                    "type": "synonym"
                },
                {
                    "name": "HEL97",
                    "type": "synonym"
                },
                {
                    "name": "MRM2",
                    "type": "synonym"
                },
                {
                    "name": "MTDPS17",
                    "type": "synonym"
                },
                {
                    "name": "RRMJ2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UI43-1",
            "evidence": [
                {
                    "id": "618567",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618567"
                },
                {
                    "id": "0070448",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070448"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53123-1",
            "uniprot_ac": "P53123",
            "uniprot_id": "MRM2_YEAST",
            "refseq_ac": "NP_011379",
            "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": "rRNA methyltransferase 2, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.168",
                    "type": "synonym"
                },
                {
                    "name": "21S rRNA (uridine(2791)-2'-O)-methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "21S rRNA (uridine2791-2'-O) methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "21S rRNA [Um2791] 2'-O-methyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MRM2",
                    "type": "recommended"
                },
                {
                    "name": "G2830",
                    "type": "synonym"
                },
                {
                    "name": "MRM2",
                    "type": "synonym"
                }
            ],
            "record_id": "P53123-1",
            "evidence": [
                {
                    "id": "0070448",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070448"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZGI8-1",
            "uniprot_ac": "D3ZGI8",
            "uniprot_id": "D3ZGI8_RAT",
            "refseq_ac": "NP_001100595",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "rRNA methyltransferase 2, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "16S rRNA (uridine(1369)-2'-O)-methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "16S rRNA [Um1369] 2'-O-methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "FtsJ RNA methyltransferase homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "FtsJ homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "Protein ftsJ homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "putative ribosomal RNA methyltransferase 2",
                    "type": "synonym"
                },
                {
                    "name": "rRNA methyltransferase 2, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mrm2",
                    "type": "recommended"
                },
                {
                    "name": "Ftsj2",
                    "type": "synonym"
                },
                {
                    "name": "Mrm2",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZGI8-1",
            "evidence": [
                {
                    "id": "0070448",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070448"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VDT6-1",
            "uniprot_ac": "Q9VDT6",
            "uniprot_id": "MRM2_DROME",
            "refseq_ac": "NP_650835",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "rRNA methyltransferase 2, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.-",
                    "type": "synonym"
                },
                {
                    "name": "CG11447-PA",
                    "type": "synonym"
                },
                {
                    "name": "Mrm2-PA",
                    "type": "synonym"
                },
                {
                    "name": "dmMRM2",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial rRNA methyltransferase 2",
                    "type": "synonym"
                },
                {
                    "name": "rRNA (uridine-2'-O)-methyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mrm2",
                    "type": "recommended"
                },
                {
                    "name": "CG11447",
                    "type": "synonym"
                },
                {
                    "name": "DmMRM2",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG11447",
                    "type": "synonym"
                },
                {
                    "name": "Mrm2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VDT6-1",
            "evidence": [
                {
                    "id": "0070448",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070448"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070448"
}