{
    "disease_id": "DOID:0111470",
    "recommended_name": {
        "id": "DOID:0111470",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111470",
        "name": "combined oxidative phosphorylation deficiency 28",
        "description": "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A26 gene on chromosome 3p14.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111470",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111470",
            "name": "COXPD28",
            "description": ""
        },
        {
            "id": "DOID:0111470",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111470",
            "name": "neonatal severe cardiopulmonary failure due to mitochondrial methylation defect",
            "description": ""
        },
        {
            "id": "MONDO:0014775",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014775",
            "name": "combined oxidative phosphorylation deficiency 28",
            "description": "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the SLC25A26 gene."
        },
        {
            "id": "MONDO:0014775",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014775",
            "name": "COXPD28",
            "description": ""
        },
        {
            "id": "MONDO:0014775",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014775",
            "name": "SLC25A26 combined oxidative phosphorylation deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014775",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014775",
            "name": "combined oxidative phosphorylation defect type 28",
            "description": ""
        },
        {
            "id": "MONDO:0014775",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014775",
            "name": "combined oxidative phosphorylation deficiency 28",
            "description": ""
        },
        {
            "id": "MONDO:0014775",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014775",
            "name": "combined oxidative phosphorylation deficiency caused by mutation in SLC25A26",
            "description": ""
        },
        {
            "id": "MONDO:0014775",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014775",
            "name": "combined oxidative phosphorylation deficiency type 28",
            "description": ""
        },
        {
            "id": "MONDO:0014775",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014775",
            "name": "neonatal severe cardiopulmonary failure due to mitochondrial methylation defect",
            "description": ""
        },
        {
            "id": "MIM:616794",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616794",
            "name": "Combined oxidative phosphorylation deficiency 28",
            "description": "Combined oxidative phosphorylation deficiency 28"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111470"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111470",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111470",
            "categories": []
        },
        {
            "id": "MONDO:0014775",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014775",
            "categories": []
        },
        {
            "id": "MIM:616794",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616794",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q4V9P0-1",
            "uniprot_ac": "Q4V9P0",
            "uniprot_id": "SAMC_DANRE",
            "refseq_ac": "NP_001025314",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial S-adenosylmethionine carrier protein",
                    "type": "recommended"
                },
                {
                    "name": "S-adenosylmethionine mitochondrial carrier protein",
                    "type": "synonym"
                },
                {
                    "name": "SAM carrier",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 25 member 26",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial S-adenosylmethionine carrier protein",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial S-adenosylmethionine transporter",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 25 (S-adenosylmethionine carrier), member 26",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "slc25a26",
                    "type": "recommended"
                },
                {
                    "name": "SAMC",
                    "type": "synonym"
                },
                {
                    "name": "samc",
                    "type": "synonym"
                },
                {
                    "name": "slc25a26",
                    "type": "synonym"
                },
                {
                    "name": "zgc:110080",
                    "type": "synonym"
                }
            ],
            "record_id": "Q4V9P0-1",
            "evidence": [
                {
                    "id": "0111470",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111470"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5U680-1",
            "uniprot_ac": "Q5U680",
            "uniprot_id": "SAMC_MOUSE",
            "refseq_ac": "NP_080531",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial S-adenosylmethionine carrier protein",
                    "type": "recommended"
                },
                {
                    "name": "S-adenosylmethionine mitochondrial carrier protein",
                    "type": "synonym"
                },
                {
                    "name": "SAM carrier",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 25 member 26",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial S-adenosylmethionine carrier protein",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial S-adenosylmethionine transporter",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 25 member 26",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc25a26",
                    "type": "recommended"
                },
                {
                    "name": "4930433D19Rik",
                    "type": "synonym"
                },
                {
                    "name": "4933433F13Rik",
                    "type": "synonym"
                },
                {
                    "name": "D6Bwg0781e",
                    "type": "synonym"
                },
                {
                    "name": "Samc",
                    "type": "synonym"
                },
                {
                    "name": "Slc25a26",
                    "type": "synonym"
                },
                {
                    "name": "Slc25a6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5U680-1",
            "evidence": [
                {
                    "id": "0111470",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111470"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q70HW3-1",
            "uniprot_ac": "Q70HW3",
            "uniprot_id": "SAMC_HUMAN",
            "refseq_ac": "NP_001158268",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial S-adenosylmethionine carrier protein",
                    "type": "recommended"
                },
                {
                    "name": "S-adenosylmethionine mitochondrial carrier protein",
                    "type": "synonym"
                },
                {
                    "name": "SAM carrier",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 25 member 26",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial S-adenosylmethionine carrier protein isoform b",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial S-adenosylmethionine carrier protein",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial S-adenosylmethionine transporter",
                    "type": "synonym"
                },
                {
                    "name": "phosphate carrier), member 26",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 25 (S-adenosylmethionine carrier), member 26",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 25 (mitochondrial carrier",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SLC25A26",
                    "type": "recommended"
                },
                {
                    "name": "COXPD28",
                    "type": "synonym"
                },
                {
                    "name": "SAMC",
                    "type": "synonym"
                },
                {
                    "name": "SLC25A26",
                    "type": "synonym"
                }
            ],
            "record_id": "Q70HW3-1",
            "evidence": [
                {
                    "id": "616794",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616794"
                },
                {
                    "id": "0111470",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111470"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P38921-1",
            "uniprot_ac": "P38921",
            "uniprot_id": "PET8_YEAST",
            "refseq_ac": "NP_014395",
            "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": "Mitochondrial S-adenosylmethionine carrier protein",
                    "type": "recommended"
                },
                {
                    "name": "Pet8p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PET8",
                    "type": "recommended"
                },
                {
                    "name": "N2012",
                    "type": "synonym"
                },
                {
                    "name": "PET8",
                    "type": "synonym"
                },
                {
                    "name": "SAM5",
                    "type": "synonym"
                }
            ],
            "record_id": "P38921-1",
            "evidence": [
                {
                    "id": "0111470",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111470"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6AAR8-1",
            "uniprot_ac": "A0A8I6AAR8",
            "uniprot_id": "A0A8I6AAR8_RAT",
            "refseq_ac": "NP_001382534",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial S-adenosylmethionine carrier protein",
                    "type": "recommended"
                },
                {
                    "name": "S-adenosylmethionine mitochondrial carrier protein",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 25 member 26",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial S-adenosylmethionine carrier protein",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 25 (S-adenosylmethionine carrier), member 26",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 25 (mitochondrial carrier, phosphate carrier), member 26",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc25a26",
                    "type": "recommended"
                },
                {
                    "name": "Slc25a26",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6AAR8-1",
            "evidence": [
                {
                    "id": "0111470",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111470"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VBN7-2",
            "uniprot_ac": "Q9VBN7",
            "uniprot_id": "SAMC_DROME",
            "refseq_ac": "NP_651415",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "S-adenosylmethionine mitochondrial carrier protein homolog",
                    "type": "recommended"
                },
                {
                    "name": "CG4743-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CG4743",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4743",
                    "type": "synonym"
                },
                {
                    "name": "Samc",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VBN7-2",
            "evidence": [
                {
                    "id": "0111470",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111470"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111470"
}