{
    "disease_id": "DOID:0060994",
    "recommended_name": {
        "id": "DOID:0060994",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060994",
        "name": "encephalopathy due to defective mitochondrial and peroxisomal fission 2",
        "description": "A syndrome characterized by delayed psychomotor development, severe hypotonia with inability to walk, microcephaly, and abnormal signals in the basal ganglia that has_material_basis_in homozygous or compound heterozygous mutation in the MFF gene on chromosome 2q36."
    },
    "synonyms": [
        {
            "id": "MONDO:0014905",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014905",
            "name": "encephalopathy due to defective mitochondrial and peroxisomal fission 2",
            "description": ""
        },
        {
            "id": "MONDO:0014905",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014905",
            "name": "EMPF2",
            "description": ""
        },
        {
            "id": "MONDO:0014905",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014905",
            "name": "Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014905",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014905",
            "name": "MFF-associated encephalopathy due to peroxisomal and mitochondrial fission defect",
            "description": ""
        },
        {
            "id": "MONDO:0014905",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014905",
            "name": "encephalopathy due to defective mitochondrial and peroxisomal fission 2",
            "description": ""
        },
        {
            "id": "MONDO:0014905",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014905",
            "name": "encephalopathy due to defective mitochondrial and peroxisomal fission type 2",
            "description": ""
        },
        {
            "id": "MIM:617086",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617086",
            "name": "Encephalopathy due to defective mitochondrial and peroxisomal fission 2",
            "description": "Encephalopathy due to defective mitochondrial and peroxisomal fission 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060994"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060994",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060994",
            "categories": []
        },
        {
            "id": "MONDO:0014905",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014905",
            "categories": []
        },
        {
            "id": "MIM:617086",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617086",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q7SZQ4-1",
            "uniprot_ac": "Q7SZQ4",
            "uniprot_id": "MFFB_DANRE",
            "refseq_ac": "NP_956830",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial fission factor homolog B",
                    "type": "recommended"
                },
                {
                    "name": "mitochondrial fission factor homolog B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mffa",
                    "type": "recommended"
                },
                {
                    "name": "mffa",
                    "type": "synonym"
                },
                {
                    "name": "mff",
                    "type": "synonym"
                },
                {
                    "name": "zgc:66022",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7SZQ4-1",
            "evidence": [
                {
                    "id": "0060994",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060994"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q503U3-1",
            "uniprot_ac": "Q503U3",
            "uniprot_id": "MFFA_DANRE",
            "refseq_ac": "NP_001018402",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial fission factor homolog A",
                    "type": "recommended"
                },
                {
                    "name": "mitochondrial fission factor homolog A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mffb",
                    "type": "recommended"
                },
                {
                    "name": "im:5082098",
                    "type": "synonym"
                },
                {
                    "name": "mffb",
                    "type": "synonym"
                },
                {
                    "name": "zgc:110130",
                    "type": "synonym"
                }
            ],
            "record_id": "Q503U3-1",
            "evidence": [
                {
                    "id": "0060994",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060994"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6PCP5-1",
            "uniprot_ac": "Q6PCP5",
            "uniprot_id": "MFF_MOUSE",
            "refseq_ac": "NP_001297624",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial fission factor",
                    "type": "recommended"
                },
                {
                    "name": "mitochondrial fission factor isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mff",
                    "type": "recommended"
                },
                {
                    "name": "5230400G24Rik",
                    "type": "synonym"
                },
                {
                    "name": "Mff",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6PCP5-1",
            "evidence": [
                {
                    "id": "0060994",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060994"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9GZY8-1",
            "uniprot_ac": "Q9GZY8",
            "uniprot_id": "MFF_HUMAN",
            "refseq_ac": "NP_001263996",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial fission factor",
                    "type": "recommended"
                },
                {
                    "name": "mitochondrial fission factor isoform f",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MFF",
                    "type": "recommended"
                },
                {
                    "name": "AD030",
                    "type": "synonym"
                },
                {
                    "name": "AD033",
                    "type": "synonym"
                },
                {
                    "name": "C2orf33",
                    "type": "synonym"
                },
                {
                    "name": "EMPF2",
                    "type": "synonym"
                },
                {
                    "name": "GL004",
                    "type": "synonym"
                },
                {
                    "name": "MFF",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9GZY8-1",
            "evidence": [
                {
                    "id": "617086",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617086"
                },
                {
                    "id": "0060994",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060994"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q4KM98-1",
            "uniprot_ac": "Q4KM98",
            "uniprot_id": "MFF_RAT",
            "refseq_ac": "NP_001034104",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial fission factor",
                    "type": "recommended"
                },
                {
                    "name": "mitochondrial fission factor isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mff",
                    "type": "recommended"
                },
                {
                    "name": "Mff",
                    "type": "synonym"
                },
                {
                    "name": "RGD1310230",
                    "type": "synonym"
                }
            ],
            "record_id": "Q4KM98-1",
            "evidence": [
                {
                    "id": "0060994",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060994"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q961C9-1",
            "uniprot_ac": "Q961C9",
            "uniprot_id": "TNG11_DROME",
            "refseq_ac": "NP_726111",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transport and Golgi organization protein 11",
                    "type": "recommended"
                },
                {
                    "name": "CG30404-PA",
                    "type": "synonym"
                },
                {
                    "name": "Tango-11",
                    "type": "synonym"
                },
                {
                    "name": "Tango11-PA",
                    "type": "synonym"
                },
                {
                    "name": "anon-fast-evolving-1F11",
                    "type": "synonym"
                },
                {
                    "name": "tango11",
                    "type": "synonym"
                },
                {
                    "name": "transport and golgi organization 11, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "transport and golgi organization",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tango11",
                    "type": "recommended"
                },
                {
                    "name": "BEST:LD33633",
                    "type": "synonym"
                },
                {
                    "name": "BcDNA:LD22567",
                    "type": "synonym"
                },
                {
                    "name": "CG30404",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG30404",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG30404",
                    "type": "synonym"
                },
                {
                    "name": "TANGO11",
                    "type": "synonym"
                },
                {
                    "name": "Tango11",
                    "type": "synonym"
                },
                {
                    "name": "anon-EST:fe1F11",
                    "type": "synonym"
                },
                {
                    "name": "tango11",
                    "type": "synonym"
                }
            ],
            "record_id": "Q961C9-1",
            "evidence": [
                {
                    "id": "0060994",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060994"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060994"
}