{
    "disease_id": "DOID:0070449",
    "recommended_name": {
        "id": "DOID:0070449",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070449",
        "name": "mitochondrial DNA depletion syndrome 18",
        "description": "A mitochondrial DNA depletion syndrome characterized by early onset progressive weakness, atrophy of the distal limb muscles, and multiple mitochondrial oxidative phosphorylation deficiencies that has_material_basis_in homozygous mutation in the SLC25A21 gene on chromosome 14q11.3."
    },
    "synonyms": [
        {
            "id": "MONDO:0032932",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032932",
            "name": "mitochondrial DNA depletion syndrome 18",
            "description": ""
        },
        {
            "id": "MONDO:0032932",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032932",
            "name": "MTDPS18",
            "description": ""
        },
        {
            "id": "MIM:618811",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618811",
            "name": "Mitochondrial DNA depletion syndrome 18",
            "description": "Mitochondrial DNA depletion syndrome 18"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070449"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070449",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070449",
            "categories": []
        },
        {
            "id": "MONDO:0032932",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032932",
            "categories": []
        },
        {
            "id": "MIM:618811",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618811",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8BZ09-1",
            "uniprot_ac": "Q8BZ09",
            "uniprot_id": "ODC_MOUSE",
            "refseq_ac": "NP_766165",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial 2-oxodicarboxylate carrier",
                    "type": "recommended"
                },
                {
                    "name": "Solute carrier family 25 member 21",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial 2-oxodicarboxylate carrier isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial 2-oxodicarboxylate carrier",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial solute carrier family 25 member 21",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc25a21",
                    "type": "recommended"
                },
                {
                    "name": "9930033G19Rik",
                    "type": "synonym"
                },
                {
                    "name": "A630030I10",
                    "type": "synonym"
                },
                {
                    "name": "Odc",
                    "type": "synonym"
                },
                {
                    "name": "Slc25a21",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BZ09-1",
            "evidence": [
                {
                    "id": "0070449",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070449"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9BQT8-1",
            "uniprot_ac": "Q9BQT8",
            "uniprot_id": "ODC_HUMAN",
            "refseq_ac": "NP_001164641",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial 2-oxodicarboxylate carrier",
                    "type": "recommended"
                },
                {
                    "name": "Mitochondrial 2-oxoadipate carrier",
                    "type": "synonym"
                },
                {
                    "name": "ODC",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 25 member 21",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial 2-oxoadipate carrier",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial 2-oxodicarboxylate carrier isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial 2-oxodicarboxylate carrier",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 25 (mitochondrial oxoadipate carrier), member 21",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 25 (mitochondrial oxodicarboxylate carrier), member 21",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SLC25A21",
                    "type": "recommended"
                },
                {
                    "name": "MTDPS18",
                    "type": "synonym"
                },
                {
                    "name": "ODC1",
                    "type": "synonym"
                },
                {
                    "name": "ODC",
                    "type": "synonym"
                },
                {
                    "name": "SLC25A21",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9BQT8-1",
            "evidence": [
                {
                    "id": "618811",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618811"
                },
                {
                    "id": "0070449",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070449"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q99297-1",
            "uniprot_ac": "Q99297",
            "uniprot_id": "ODC2_YEAST",
            "refseq_ac": "NP_014865",
            "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": "Mitochondrial 2-oxodicarboxylate carrier 2",
                    "type": "recommended"
                },
                {
                    "name": "mitochondrial 2-oxodicarboxylate carrier",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ODC2",
                    "type": "recommended"
                },
                {
                    "name": "ODC2",
                    "type": "synonym"
                },
                {
                    "name": "YOR50-12",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99297-1",
            "evidence": [
                {
                    "id": "0070449",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070449"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q03028-1",
            "uniprot_ac": "Q03028",
            "uniprot_id": "ODC1_YEAST",
            "refseq_ac": "NP_015191",
            "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": "Mitochondrial 2-oxodicarboxylate carrier 1",
                    "type": "recommended"
                },
                {
                    "name": "mitochondrial 2-oxodicarboxylate carrier",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ODC1",
                    "type": "recommended"
                },
                {
                    "name": "LPI11C",
                    "type": "synonym"
                },
                {
                    "name": "ODC1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q03028-1",
            "evidence": [
                {
                    "id": "0070449",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070449"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q99JD3-1",
            "uniprot_ac": "Q99JD3",
            "uniprot_id": "ODC_RAT",
            "refseq_ac": "NP_598298",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial 2-oxodicarboxylate carrier",
                    "type": "recommended"
                },
                {
                    "name": "Solute carrier family 25 member 21",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial 2-oxodicarboxylate carrier",
                    "type": "synonym"
                },
                {
                    "name": "oxodicarboxylate carrier",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 25 (mitochondrial oxoadipate carrier), member 21",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 25 (mitochondrial oxodicarboxylate carrier), member 21",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc25a21",
                    "type": "recommended"
                },
                {
                    "name": "Odc1",
                    "type": "synonym"
                },
                {
                    "name": "Odc",
                    "type": "synonym"
                },
                {
                    "name": "Slc25a21",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99JD3-1",
            "evidence": [
                {
                    "id": "0070449",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070449"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9V3T2-1",
            "uniprot_ac": "Q9V3T2",
            "uniprot_id": "Q9V3T2_DROME",
            "refseq_ac": "NP_569856",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial 2-oxodicarboxylate carrier",
                    "type": "recommended"
                },
                {
                    "name": "CG5254-PA",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 25 member 21",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG5254",
                    "type": "recommended"
                },
                {
                    "name": "EG:BACR19J1.2",
                    "type": "recommended"
                },
                {
                    "name": "CG5254",
                    "type": "synonym"
                },
                {
                    "name": "CT16777",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5254",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5254",
                    "type": "synonym"
                },
                {
                    "name": "EG:BACR19J1.2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9V3T2-1",
            "evidence": [
                {
                    "id": "0070449",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070449"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VLF1-1",
            "uniprot_ac": "Q9VLF1",
            "uniprot_id": "Q9VLF1_DROME",
            "refseq_ac": "NP_001285773",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial 2-oxodicarboxylate carrier",
                    "type": "recommended"
                },
                {
                    "name": "CG9582-PB",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 25 member 21",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG9582",
                    "type": "recommended"
                },
                {
                    "name": "CG9582",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9582",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG9582",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VLF1-1",
            "evidence": [
                {
                    "id": "0070449",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070449"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070449"
}