{
    "disease_id": "DOID:0080336",
    "recommended_name": {
        "id": "DOID:0080336",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080336",
        "name": "mitochondrial DNA depletion syndrome 14",
        "description": "A mitochondrial DNA depletion syndrome that is characterized by severe lethal infantile mitochondrial encephalomyopathy and hypertrophic cardiomyopathy, with hypotonia and peripheral hypertonia with opisthotonic posturing, as well as feeding difficulties and profound neurodevelopmental delay, and has_material_basis_in homozygous mutation in the OPA1 mitochondrial dynamin like GTPase gene on chromosome 3q29."
    },
    "synonyms": [
        {
            "id": "MONDO:0014820",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014820",
            "name": "mitochondrial DNA depletion syndrome 14B (cardioencephalomyopathic type)",
            "description": ""
        },
        {
            "id": "MONDO:0014820",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014820",
            "name": "MTDPS14",
            "description": ""
        },
        {
            "id": "MONDO:0014820",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014820",
            "name": "OPA1 mitochondrial DNA depletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014820",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014820",
            "name": "mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)",
            "description": ""
        },
        {
            "id": "MONDO:0014820",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014820",
            "name": "mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type); MTDPS14",
            "description": ""
        },
        {
            "id": "MONDO:0014820",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014820",
            "name": "mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type)",
            "description": ""
        },
        {
            "id": "MONDO:0014820",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014820",
            "name": "mitochondrial DNA depletion syndrome caused by mutation in OPA1",
            "description": ""
        },
        {
            "id": "MIM:616896",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616896",
            "name": "Mitochondrial DNA depletion syndrome 14, cardioencephalomyopathic type",
            "description": "Mitochondrial DNA depletion syndrome 14, cardioencephalomyopathic type"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080336"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080336",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080336",
            "categories": []
        },
        {
            "id": "MONDO:0014820",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014820",
            "categories": []
        },
        {
            "id": "MIM:616896",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616896",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q5U3A7-1",
            "uniprot_ac": "Q5U3A7",
            "uniprot_id": "OPA1_DANRE",
            "refseq_ac": "NP_001007299",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dynamin-like GTPase OPA1, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.5",
                    "type": "synonym"
                },
                {
                    "name": "Optic atrophy protein 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "dynamin-like 120 kDa protein, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "dynamin-like GTPase OPA1, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "dynamin-like GTPase OPA1, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "optic atrophy 1 (autosomal dominant)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "opa1",
                    "type": "recommended"
                },
                {
                    "name": "fk62d06",
                    "type": "synonym"
                },
                {
                    "name": "opa1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb77a10",
                    "type": "synonym"
                },
                {
                    "name": "wu:fk62d06",
                    "type": "synonym"
                },
                {
                    "name": "zgc:92092",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5U3A7-1",
            "evidence": [
                {
                    "id": "0080336",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080336"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P58281-1",
            "uniprot_ac": "P58281",
            "uniprot_id": "OPA1_MOUSE",
            "refseq_ac": "NP_001186106",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dynamin-like GTPase OPA1, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.5",
                    "type": "synonym"
                },
                {
                    "name": "Large GTP-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "LargeG",
                    "type": "synonym"
                },
                {
                    "name": "Optic atrophy protein 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "dynamin-like 120 kDa protein, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "dynamin-like GTPase OPA1, mitochondrial isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "dynamin-like GTPase OPA1, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "large GTP-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "largeG",
                    "type": "synonym"
                },
                {
                    "name": "optic atrophy 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "optic atrophy protein 1 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Opa1",
                    "type": "recommended"
                },
                {
                    "name": "1200011N24Rik",
                    "type": "synonym"
                },
                {
                    "name": "Opa1",
                    "type": "synonym"
                },
                {
                    "name": "lilr3",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA0567",
                    "type": "synonym"
                }
            ],
            "record_id": "P58281-1",
            "evidence": [
                {
                    "id": "0080336",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080336"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O60313-1",
            "uniprot_ac": "O60313",
            "uniprot_id": "OPA1_HUMAN",
            "refseq_ac": "NP_056375",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dynamin-like GTPase OPA1, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.5",
                    "type": "synonym"
                },
                {
                    "name": "Optic atrophy protein 1",
                    "type": "synonym"
                },
                {
                    "name": "dynamin-like 120 kDa protein, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "dynamin-like GTPase OPA1, mitochondrial isoform 1 preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "dynamin-like GTPase OPA1, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "dynamin-like guanosine triphosphatase",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial dynamin-like GTPase",
                    "type": "synonym"
                },
                {
                    "name": "optic atrophy 1 (autosomal dominant)",
                    "type": "synonym"
                },
                {
                    "name": "optic atrophy protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "OPA1",
                    "type": "recommended"
                },
                {
                    "name": "BERHS",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0567",
                    "type": "synonym"
                },
                {
                    "name": "MGM1",
                    "type": "synonym"
                },
                {
                    "name": "MTDPS14A",
                    "type": "synonym"
                },
                {
                    "name": "MTDPS14B",
                    "type": "synonym"
                },
                {
                    "name": "MTDPS14",
                    "type": "synonym"
                },
                {
                    "name": "NPG",
                    "type": "synonym"
                },
                {
                    "name": "NTG",
                    "type": "synonym"
                },
                {
                    "name": "OPA1",
                    "type": "synonym"
                },
                {
                    "name": "largeG",
                    "type": "synonym"
                }
            ],
            "record_id": "O60313-1",
            "evidence": [
                {
                    "id": "616896",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616896"
                },
                {
                    "id": "0080336",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080336"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P32266-1",
            "uniprot_ac": "P32266",
            "uniprot_id": "MGM1_YEAST",
            "refseq_ac": "NP_014854",
            "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": "Dynamin-like GTPase MGM1, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.5",
                    "type": "synonym"
                },
                {
                    "name": "Mitochondrial division and morphology protein 17",
                    "type": "synonym"
                },
                {
                    "name": "Mitochondrial genome maintenance protein 1",
                    "type": "synonym"
                },
                {
                    "name": "dynamin-related GTPase MGM1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MGM1",
                    "type": "recommended"
                },
                {
                    "name": "MDM17",
                    "type": "synonym"
                },
                {
                    "name": "MGM1",
                    "type": "synonym"
                },
                {
                    "name": "MNA1",
                    "type": "synonym"
                },
                {
                    "name": "YOR50-1",
                    "type": "synonym"
                }
            ],
            "record_id": "P32266-1",
            "evidence": [
                {
                    "id": "0080336",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080336"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q2TA68-1",
            "uniprot_ac": "Q2TA68",
            "uniprot_id": "OPA1_RAT",
            "refseq_ac": "NP_598269",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dynamin-like GTPase OPA1, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.5",
                    "type": "synonym"
                },
                {
                    "name": "Optic atrophy protein 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "RN protein",
                    "type": "synonym"
                },
                {
                    "name": "dynamin-like 120 kDa protein, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "dynamin-like GTPase OPA1, mitochondrial isoform 4 precursor",
                    "type": "synonym"
                },
                {
                    "name": "dynamin-like GTPase OPA1, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial OPA1",
                    "type": "synonym"
                },
                {
                    "name": "optic atrophy 1 (autosomal dominant)",
                    "type": "synonym"
                },
                {
                    "name": "optic atrophy 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "optic atrophy 1-like protein",
                    "type": "synonym"
                },
                {
                    "name": "optic atrophy protein 1 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Opa1",
                    "type": "recommended"
                },
                {
                    "name": "Opa1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q2TA68-1",
            "evidence": [
                {
                    "id": "0080336",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080336"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A1Z9N0-1",
            "uniprot_ac": "A1Z9N0",
            "uniprot_id": "A1Z9N0_DROME",
            "refseq_ac": "NP_725369",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dynamin-like GTPase OPA1, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.5",
                    "type": "synonym"
                },
                {
                    "name": "CG8479-PA",
                    "type": "synonym"
                },
                {
                    "name": "Opa1-PA",
                    "type": "synonym"
                },
                {
                    "name": "Opa1-like",
                    "type": "synonym"
                },
                {
                    "name": "dOpa1",
                    "type": "synonym"
                },
                {
                    "name": "drosophila optic atrophy 1-like",
                    "type": "synonym"
                },
                {
                    "name": "lethal (2) s3475",
                    "type": "synonym"
                },
                {
                    "name": "optic atrophy 1 ortholog",
                    "type": "synonym"
                },
                {
                    "name": "optic atrophy 1, isoform A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Opa1",
                    "type": "recommended"
                },
                {
                    "name": "CG8479",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8479",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG8479",
                    "type": "synonym"
                },
                {
                    "name": "OPA1-like",
                    "type": "synonym"
                },
                {
                    "name": "OPA1",
                    "type": "synonym"
                },
                {
                    "name": "Opa1-like",
                    "type": "synonym"
                },
                {
                    "name": "Opa1",
                    "type": "synonym"
                },
                {
                    "name": "dOPA1",
                    "type": "synonym"
                },
                {
                    "name": "dOpa1",
                    "type": "synonym"
                },
                {
                    "name": "dOpa",
                    "type": "synonym"
                },
                {
                    "name": "l(2)s3475",
                    "type": "synonym"
                },
                {
                    "name": "opa1-like",
                    "type": "synonym"
                },
                {
                    "name": "opa1",
                    "type": "synonym"
                }
            ],
            "record_id": "A1Z9N0-1",
            "evidence": [
                {
                    "id": "0080336",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080336"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080336"
}