{
    "disease_id": "DOID:0070347",
    "recommended_name": {
        "id": "DOID:0070347",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070347",
        "name": "encephalopathy due to defective mitochondrial and peroxisomal fission 1",
        "description": "A syndrome that has_material_basis_in heterozygous mutation in the DNM1L gene, and is characterized by delayed psychomotor development and has_symptom hypotonia that may lead to death in childhood."
    },
    "synonyms": [
        {
            "id": "MONDO:0013726",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013726",
            "name": "encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1",
            "description": ""
        },
        {
            "id": "MONDO:0013726",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013726",
            "name": "DNM1L-associated encephalopathy due to peroxisomal and mitochondrial fission defect",
            "description": ""
        },
        {
            "id": "MONDO:0013726",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013726",
            "name": "encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1",
            "description": ""
        },
        {
            "id": "MONDO:0013726",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013726",
            "name": "lethal encephalopathy due to mitochondrial and peroxisomal fission defect",
            "description": ""
        },
        {
            "id": "MONDO:0013726",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013726",
            "name": "EMPF",
            "description": ""
        },
        {
            "id": "MONDO:0013726",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013726",
            "name": "EMPF1",
            "description": ""
        },
        {
            "id": "MONDO:0013726",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013726",
            "name": "encephalopathy, lethal, due to defective mitochondrial and peroxisomal fission",
            "description": ""
        },
        {
            "id": "MIM:614388",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614388",
            "name": "Encephalopathy due to defective mitochondrial and peroxisomal fission 1",
            "description": "Encephalopathy due to defective mitochondrial and peroxisomal fission 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070347"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070347",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070347",
            "categories": []
        },
        {
            "id": "MONDO:0013726",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013726",
            "categories": []
        },
        {
            "id": "MIM:614388",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614388",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q7SXN5-1",
            "uniprot_ac": "Q7SXN5",
            "uniprot_id": "DNM1L_DANRE",
            "refseq_ac": "NP_957216",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dynamin-1-like protein",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.5",
                    "type": "synonym"
                },
                {
                    "name": "dynamin-1-like protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "dnm1l",
                    "type": "recommended"
                },
                {
                    "name": "dnm1l",
                    "type": "synonym"
                },
                {
                    "name": "drp1",
                    "type": "synonym"
                },
                {
                    "name": "zgc:66163",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7SXN5-1",
            "evidence": [
                {
                    "id": "0070347",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070347"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0AC58GC78-1",
            "uniprot_ac": "A0AC58GC78",
            "uniprot_id": "A0AC58GC78_DANRE",
            "refseq_ac": "XP_073767341",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dynamin-1-like protein",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.5",
                    "type": "synonym"
                },
                {
                    "name": "dynamin-1-like protein isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "si:dkey-32e23.4",
                    "type": "recommended"
                },
                {
                    "name": "si:dkey-32e23.4",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58GC78-1",
            "evidence": [
                {
                    "id": "0070347",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070347"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8K1M6-12",
            "uniprot_ac": "Q8K1M6",
            "uniprot_id": "DNM1L_MOUSE",
            "refseq_ac": "NP_001021118",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dynamin-1-like protein",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.5",
                    "type": "synonym"
                },
                {
                    "name": "Dymple",
                    "type": "synonym"
                },
                {
                    "name": "Dynamin family member proline-rich carboxyl-terminal domain less",
                    "type": "synonym"
                },
                {
                    "name": "Dynamin-related protein 1",
                    "type": "synonym"
                },
                {
                    "name": "dymple",
                    "type": "synonym"
                },
                {
                    "name": "dynamin family member proline-rich carboxyl-terminal domain less",
                    "type": "synonym"
                },
                {
                    "name": "dynamin-1-like protein isoform b",
                    "type": "synonym"
                },
                {
                    "name": "dynamin-1-like protein",
                    "type": "synonym"
                },
                {
                    "name": "dynamin-related protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dnm1l",
                    "type": "recommended"
                },
                {
                    "name": "6330417M19Rik",
                    "type": "synonym"
                },
                {
                    "name": "Dlp1",
                    "type": "synonym"
                },
                {
                    "name": "Dnm1l",
                    "type": "synonym"
                },
                {
                    "name": "Dnmlp1",
                    "type": "synonym"
                },
                {
                    "name": "Drp1",
                    "type": "synonym"
                },
                {
                    "name": "python",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8K1M6-12",
            "evidence": [
                {
                    "id": "0070347",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070347"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O00429-1",
            "uniprot_ac": "O00429",
            "uniprot_id": "DNM1L_HUMAN",
            "refseq_ac": "NP_001265392",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dynamin-1-like protein",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.5",
                    "type": "synonym"
                },
                {
                    "name": "DVLP",
                    "type": "synonym"
                },
                {
                    "name": "Dnm1p/Vps1p-like protein",
                    "type": "synonym"
                },
                {
                    "name": "Dymple",
                    "type": "synonym"
                },
                {
                    "name": "Dynamin family member proline-rich carboxyl-terminal domain less",
                    "type": "synonym"
                },
                {
                    "name": "Dynamin-like protein 4",
                    "type": "synonym"
                },
                {
                    "name": "Dynamin-like protein IV",
                    "type": "synonym"
                },
                {
                    "name": "Dynamin-like protein",
                    "type": "synonym"
                },
                {
                    "name": "Dynamin-related protein 1",
                    "type": "synonym"
                },
                {
                    "name": "HdynIV",
                    "type": "synonym"
                },
                {
                    "name": "dynamin family member proline-rich carboxyl-terminal domain less",
                    "type": "synonym"
                },
                {
                    "name": "dynamin-1-like protein isoform 4",
                    "type": "synonym"
                },
                {
                    "name": "dynamin-like protein 4",
                    "type": "synonym"
                },
                {
                    "name": "dynamin-like protein IV",
                    "type": "synonym"
                },
                {
                    "name": "dynamin-related protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DNM1L",
                    "type": "recommended"
                },
                {
                    "name": "DLP1",
                    "type": "synonym"
                },
                {
                    "name": "DNM1L",
                    "type": "synonym"
                },
                {
                    "name": "DRP1",
                    "type": "synonym"
                },
                {
                    "name": "DVLP",
                    "type": "synonym"
                },
                {
                    "name": "DYMPLE",
                    "type": "synonym"
                },
                {
                    "name": "EMPF1",
                    "type": "synonym"
                },
                {
                    "name": "EMPF",
                    "type": "synonym"
                },
                {
                    "name": "HDYNIV",
                    "type": "synonym"
                },
                {
                    "name": "OPA5",
                    "type": "synonym"
                }
            ],
            "record_id": "O00429-1",
            "evidence": [
                {
                    "id": "614388",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614388"
                },
                {
                    "id": "0070347",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070347"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P54861-1",
            "uniprot_ac": "P54861",
            "uniprot_id": "DNM1_YEAST",
            "refseq_ac": "NP_013100",
            "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-related protein DNM1",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.5",
                    "type": "synonym"
                },
                {
                    "name": "dynamin-related GTPase DNM1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DNM1",
                    "type": "recommended"
                },
                {
                    "name": "DNM1",
                    "type": "synonym"
                },
                {
                    "name": "DRP1",
                    "type": "synonym"
                },
                {
                    "name": "L1381",
                    "type": "synonym"
                }
            ],
            "record_id": "P54861-1",
            "evidence": [
                {
                    "id": "0070347",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070347"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O35303-1",
            "uniprot_ac": "O35303",
            "uniprot_id": "DNM1L_RAT",
            "refseq_ac": "NP_446107",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dynamin-1-like protein",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.5",
                    "type": "synonym"
                },
                {
                    "name": "C-terminal region",
                    "type": "synonym"
                },
                {
                    "name": "Dynamin-like protein",
                    "type": "synonym"
                },
                {
                    "name": "N-terminal region",
                    "type": "synonym"
                },
                {
                    "name": "dynamin-1-like protein isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "dynamin-1-like protein",
                    "type": "synonym"
                },
                {
                    "name": "dynamin-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "dynamin-related protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dnm1l",
                    "type": "recommended"
                },
                {
                    "name": "DLP1",
                    "type": "synonym"
                },
                {
                    "name": "Dlp1",
                    "type": "synonym"
                },
                {
                    "name": "Dnm1l",
                    "type": "synonym"
                },
                {
                    "name": "Dnml1",
                    "type": "synonym"
                },
                {
                    "name": "Drp1",
                    "type": "synonym"
                }
            ],
            "record_id": "O35303-1",
            "evidence": [
                {
                    "id": "0070347",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070347"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VQE0-1",
            "uniprot_ac": "Q9VQE0",
            "uniprot_id": "Q9VQE0_DROME",
            "refseq_ac": "NP_001259946",
            "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 GTPase",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.5",
                    "type": "synonym"
                },
                {
                    "name": "CG3210-PB",
                    "type": "synonym"
                },
                {
                    "name": "Drp1-PB",
                    "type": "synonym"
                },
                {
                    "name": "dynamin related protein 1, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "dynamin related protein 1",
                    "type": "synonym"
                },
                {
                    "name": "dynamin related protein-1",
                    "type": "synonym"
                },
                {
                    "name": "dynamin-2",
                    "type": "synonym"
                },
                {
                    "name": "dynamin-related protein 1",
                    "type": "synonym"
                },
                {
                    "name": "dynamin-related protein",
                    "type": "synonym"
                },
                {
                    "name": "dynaminrelated protein 1",
                    "type": "synonym"
                },
                {
                    "name": "fratboy",
                    "type": "synonym"
                },
                {
                    "name": "lethal(2)22Fc",
                    "type": "synonym"
                },
                {
                    "name": "lethal(2)22Fd",
                    "type": "synonym"
                },
                {
                    "name": "near dpp complementation group 2",
                    "type": "synonym"
                },
                {
                    "name": "near dpp complementation group 3",
                    "type": "synonym"
                },
                {
                    "name": "noodle",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Drp1",
                    "type": "recommended"
                },
                {
                    "name": "CG3210",
                    "type": "synonym"
                },
                {
                    "name": "DNM1L",
                    "type": "synonym"
                },
                {
                    "name": "DRP1",
                    "type": "synonym"
                },
                {
                    "name": "DRP",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3210",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG3210",
                    "type": "synonym"
                },
                {
                    "name": "Dnm1/Drp1",
                    "type": "synonym"
                },
                {
                    "name": "Drp-1",
                    "type": "synonym"
                },
                {
                    "name": "Drp1",
                    "type": "synonym"
                },
                {
                    "name": "Drp",
                    "type": "synonym"
                },
                {
                    "name": "drp-1",
                    "type": "synonym"
                },
                {
                    "name": "drp1",
                    "type": "synonym"
                },
                {
                    "name": "drp",
                    "type": "synonym"
                },
                {
                    "name": "frat",
                    "type": "synonym"
                },
                {
                    "name": "l(2)22Fc",
                    "type": "synonym"
                },
                {
                    "name": "l(2)22Fd",
                    "type": "synonym"
                },
                {
                    "name": "l(2)ND2",
                    "type": "synonym"
                },
                {
                    "name": "l(2)ND3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VQE0-1",
            "evidence": [
                {
                    "id": "0070347",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070347"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070347"
}