{
    "disease_id": "DOID:0112110",
    "recommended_name": {
        "id": "DOID:0112110",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112110",
        "name": "combined oxidative phosphorylation deficiency 49",
        "description": "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MIEF2 gene on chromosome 17p11.2."
    },
    "synonyms": [
        {
            "id": "DOID:0112110",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112110",
            "name": "COXPD49",
            "description": ""
        },
        {
            "id": "MONDO:0033569",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033569",
            "name": "combined oxidative phosphorylation deficiency 49",
            "description": ""
        },
        {
            "id": "MONDO:0033569",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033569",
            "name": "COXPD49",
            "description": ""
        },
        {
            "id": "MIM:619024",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619024",
            "name": "Combined oxidative phosphorylation deficiency 49",
            "description": "Combined oxidative phosphorylation deficiency 49"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112110"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112110",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112110",
            "categories": []
        },
        {
            "id": "MONDO:0033569",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033569",
            "categories": []
        },
        {
            "id": "MIM:619024",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619024",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1NB06-1",
            "uniprot_ac": "A0A8M1NB06",
            "uniprot_id": "A0A8M1NB06_DANRE",
            "refseq_ac": "NP_001070116",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial elongation factor 1",
                    "type": "recommended"
                },
                {
                    "name": "Smith-Magenis syndrome chromosomal region candidate gene 7 protein-like",
                    "type": "synonym"
                },
                {
                    "name": "Smith-Magenis syndrome chromosome region, candidate 7b",
                    "type": "synonym"
                },
                {
                    "name": "Smith-Magenis syndrome chromosome region, candidate 7",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial dynamics protein MID49",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mief2",
                    "type": "recommended"
                },
                {
                    "name": "im:7149098",
                    "type": "synonym"
                },
                {
                    "name": "mief2",
                    "type": "synonym"
                },
                {
                    "name": "smcr7b",
                    "type": "synonym"
                },
                {
                    "name": "smcr7",
                    "type": "synonym"
                },
                {
                    "name": "zgc:152920",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1NB06-1",
            "evidence": [
                {
                    "id": "0112110",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112110"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5NCS9-1",
            "uniprot_ac": "Q5NCS9",
            "uniprot_id": "MID49_MOUSE",
            "refseq_ac": "NP_001009927",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial dynamics protein MID49",
                    "type": "recommended"
                },
                {
                    "name": "Mitochondrial dynamics protein of 49 kDa homolog",
                    "type": "synonym"
                },
                {
                    "name": "Mitochondrial elongation factor 2",
                    "type": "synonym"
                },
                {
                    "name": "Smith-Magenis syndrome chromosomal region candidate gene 7 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial dynamic protein MID49",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial dynamic protein of 49 kDa homolog",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial dynamics protein MID49",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial dynamics protein of 49 kDa homolog",
                    "type": "synonym"
                },
                {
                    "name": "smith-Magenis syndrome chromosomal region candidate gene 7 protein homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mief2",
                    "type": "recommended"
                },
                {
                    "name": "Gm11",
                    "type": "synonym"
                },
                {
                    "name": "Mid49",
                    "type": "synonym"
                },
                {
                    "name": "Mief2",
                    "type": "synonym"
                },
                {
                    "name": "Smcr7",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5NCS9-1",
            "evidence": [
                {
                    "id": "0112110",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112110"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96C03-1",
            "uniprot_ac": "Q96C03",
            "uniprot_id": "MID49_HUMAN",
            "refseq_ac": "NP_001138372",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial dynamics protein MID49",
                    "type": "recommended"
                },
                {
                    "name": "DANGER family member 3B",
                    "type": "synonym"
                },
                {
                    "name": "Mitochondrial dynamics protein of 49 kDa",
                    "type": "synonym"
                },
                {
                    "name": "Mitochondrial elongation factor 2",
                    "type": "synonym"
                },
                {
                    "name": "Smith-Magenis syndrome chromosomal region candidate gene 7 protein",
                    "type": "synonym"
                },
                {
                    "name": "Smith-Magenis syndrome chromosome region, candidate 7",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial dynamic protein MID49",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial dynamic protein of 49 kDa",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial dynamics protein MID49 isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial dynamics protein MID49",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial dynamics protein of 49 kDa",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MIEF2",
                    "type": "recommended"
                },
                {
                    "name": "COXPD49",
                    "type": "synonym"
                },
                {
                    "name": "D3B",
                    "type": "synonym"
                },
                {
                    "name": "MID49",
                    "type": "synonym"
                },
                {
                    "name": "MIEF2",
                    "type": "synonym"
                },
                {
                    "name": "SMCR7",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96C03-1",
            "evidence": [
                {
                    "id": "619024",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619024"
                },
                {
                    "id": "0112110",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112110"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6GLF2-1",
            "uniprot_ac": "A0A8I6GLF2",
            "uniprot_id": "A0A8I6GLF2_RAT",
            "refseq_ac": "NP_001385773",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial dynamics protein MID49",
                    "type": "recommended"
                },
                {
                    "name": "Mitochondrial elongation factor 2",
                    "type": "synonym"
                },
                {
                    "name": "Smith-Magenis syndrome chromosome region, candidate 7 homolog",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial dynamic protein MID49",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial dynamics protein MID49",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mief2",
                    "type": "recommended"
                },
                {
                    "name": "Mief2",
                    "type": "synonym"
                },
                {
                    "name": "RGD1560728",
                    "type": "synonym"
                },
                {
                    "name": "Smcr7",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6GLF2-1",
            "evidence": [
                {
                    "id": "0112110",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112110"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112110"
}