{
    "disease_id": "DOID:0110155",
    "recommended_name": {
        "id": "DOID:0110155",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110155",
        "name": "Charcot-Marie-Tooth disease type 2A2A",
        "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the MFN2 gene on chromosome 1p36.22."
    },
    "synonyms": [
        {
            "id": "DOID:0110155",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110155",
            "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2A2",
            "description": ""
        },
        {
            "id": "DOID:0110155",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110155",
            "name": "CMT2A2A",
            "description": ""
        },
        {
            "id": "DOID:0110155",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110155",
            "name": "Charcot-Marie-Tooth neuronal type 2A2",
            "description": ""
        },
        {
            "id": "DOID:0110155",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110155",
            "name": "Charcot-Marie-Tooth neuropathy type 2A2",
            "description": ""
        },
        {
            "id": "DOID:0110155",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110155",
            "name": "HMSN IIA2",
            "description": ""
        },
        {
            "id": "DOID:0110155",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110155",
            "name": "HMSN2A2",
            "description": ""
        },
        {
            "id": "DOID:0110155",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110155",
            "name": "hereditary motor and sensory neuropathy IIA2",
            "description": ""
        },
        {
            "id": "MONDO:0012231",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012231",
            "name": "Charcot-Marie-Tooth disease type 2A2",
            "description": "Autosomal dominant Charcot-Marie-Tooth disease type 2A2 (CMT2A2) is a subtype of Autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by the childhood onset of distal weakness and areflexia (with earlier and more severe involvement of the lower extremities), reduced sensory modalities (primarily pain and temperature sensation), foot deformities, postural tremor, scoliosis and contractures. Optic atrophy, vocal cord palsy with dysphonia, sensorineural hearing loss, spinal cord abnormalities and hydrocephalus have also been reported."
        },
        {
            "id": "MONDO:0012231",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012231",
            "name": "CMT2A2",
            "description": ""
        },
        {
            "id": "MONDO:0012231",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012231",
            "name": "Charcot-Marie-Tooth disease type 2 caused by mutation in MFN2",
            "description": ""
        },
        {
            "id": "MONDO:0012231",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012231",
            "name": "Charcot-Marie-Tooth disease type 2A2A",
            "description": ""
        },
        {
            "id": "MONDO:0012231",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012231",
            "name": "Charcot-Marie-Tooth disease, axonal, type 2A2A",
            "description": ""
        },
        {
            "id": "MONDO:0012231",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012231",
            "name": "HMSN IIA2",
            "description": ""
        },
        {
            "id": "MONDO:0012231",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012231",
            "name": "HMSN2A2",
            "description": ""
        },
        {
            "id": "MONDO:0012231",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012231",
            "name": "MFN2 Charcot-Marie-Tooth disease type 2",
            "description": ""
        },
        {
            "id": "MONDO:0012231",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012231",
            "name": "hereditary motor and sensory neuropathy IIA2",
            "description": ""
        },
        {
            "id": "MONDO:0012231",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012231",
            "name": "CMT2A2A",
            "description": ""
        },
        {
            "id": "MONDO:0012231",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012231",
            "name": "Charcot-Marie-Tooth disease, axonal, type 2A2",
            "description": ""
        },
        {
            "id": "MIM:609260",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/609260",
            "name": "Charcot-Marie-Tooth disease, axonal, type 2A2A",
            "description": "Charcot-Marie-Tooth disease, axonal, type 2A2A"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110155"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110155",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110155",
            "categories": []
        },
        {
            "id": "MONDO:0012231",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012231",
            "categories": []
        },
        {
            "id": "MIM:609260",
            "database": "MIM",
            "url": "https://www.omim.org/entry/609260",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M2BJP0-1",
            "uniprot_ac": "A0A8M2BJP0",
            "uniprot_id": "A0A8M2BJP0_DANRE",
            "refseq_ac": "NP_001121726",
            "glycoprotein": "no",
            "species": [
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                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitofusin-2",
                    "type": "synonym"
                },
                {
                    "name": "mitofusin-2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mfn2",
                    "type": "recommended"
                },
                {
                    "name": "mfn2",
                    "type": "synonym"
                },
                {
                    "name": "mg:cb01g09",
                    "type": "synonym"
                },
                {
                    "name": "si:dkeyp-104h9.2",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb79a11",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2BJP0-1",
            "evidence": [
                {
                    "id": "0110155",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110155"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0AC58H9X0-1",
            "uniprot_ac": "A0AC58H9X0",
            "uniprot_id": "A0AC58H9X0_DANRE",
            "refseq_ac": "XP_073778770",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitofusin-1 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "mitofusin-1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mfn1a",
                    "type": "recommended"
                },
                {
                    "name": "mfn1a",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58H9X0-1",
            "evidence": [
                {
                    "id": "0110155",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110155"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q80U63-1",
            "uniprot_ac": "Q80U63",
            "uniprot_id": "MFN2_MOUSE",
            "refseq_ac": "NP_001272849",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitofusin-2",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.-",
                    "type": "synonym"
                },
                {
                    "name": "HSG protein",
                    "type": "synonym"
                },
                {
                    "name": "Hypertension-related protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Mitochondrial assembly regulatory factor",
                    "type": "synonym"
                },
                {
                    "name": "Transmembrane GTPase MFN2",
                    "type": "synonym"
                },
                {
                    "name": "hypertension related protein 1",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial assembly regulatory factor",
                    "type": "synonym"
                },
                {
                    "name": "mitofusin-2",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane GTPase MFN2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mfn2",
                    "type": "recommended"
                },
                {
                    "name": "D630023P19Rik",
                    "type": "synonym"
                },
                {
                    "name": "Fzo",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa0214",
                    "type": "synonym"
                },
                {
                    "name": "Marf",
                    "type": "synonym"
                },
                {
                    "name": "Mfn2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q80U63-1",
            "evidence": [
                {
                    "id": "0110155",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110155"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q811U4-1",
            "uniprot_ac": "Q811U4",
            "uniprot_id": "MFN1_MOUSE",
            "refseq_ac": "NP_077162",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitofusin-1",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.-",
                    "type": "synonym"
                },
                {
                    "name": "Transmembrane GTPase MFN1",
                    "type": "synonym"
                },
                {
                    "name": "mitofusin-1",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane GTPase MFN1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mfn1",
                    "type": "recommended"
                },
                {
                    "name": "2310002F04Rik",
                    "type": "synonym"
                },
                {
                    "name": "6330416C07Rik",
                    "type": "synonym"
                },
                {
                    "name": "D3Ertd265e",
                    "type": "synonym"
                },
                {
                    "name": "HR2",
                    "type": "synonym"
                },
                {
                    "name": "Mfn1",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA4032",
                    "type": "synonym"
                }
            ],
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            "evidence": [
                {
                    "id": "0110155",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110155"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O95140-1",
            "uniprot_ac": "O95140",
            "uniprot_id": "MFN2_HUMAN",
            "refseq_ac": "NP_001121132",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitofusin-2",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.-",
                    "type": "synonym"
                },
                {
                    "name": "Transmembrane GTPase MFN2",
                    "type": "synonym"
                },
                {
                    "name": "hyperplasia suppressor",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial assembly regulatory factor",
                    "type": "synonym"
                },
                {
                    "name": "mitofusin-2",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane GTPase MFN2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MFN2",
                    "type": "recommended"
                },
                {
                    "name": "CMT2A2A",
                    "type": "synonym"
                },
                {
                    "name": "CMT2A2B",
                    "type": "synonym"
                },
                {
                    "name": "CMT2A2",
                    "type": "synonym"
                },
                {
                    "name": "CMT2A",
                    "type": "synonym"
                },
                {
                    "name": "CPRP1",
                    "type": "synonym"
                },
                {
                    "name": "HMSN6A",
                    "type": "synonym"
                },
                {
                    "name": "HSG",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0214",
                    "type": "synonym"
                },
                {
                    "name": "MARF",
                    "type": "synonym"
                },
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                    "name": "MFN2",
                    "type": "synonym"
                },
                {
                    "name": "MSL",
                    "type": "synonym"
                }
            ],
            "record_id": "O95140-1",
            "evidence": [
                {
                    "id": "609260",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/609260"
                },
                {
                    "id": "0110155",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110155"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P38297-1",
            "uniprot_ac": "P38297",
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            "refseq_ac": "NP_009738",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
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                    "name": "Mitofusin FZO1",
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                    "name": "3.6.5.-",
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                },
                {
                    "name": "Transmembrane GTPase FZO1",
                    "type": "synonym"
                },
                {
                    "name": "mitofusin",
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            ],
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                    "name": "FZO1",
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                {
                    "name": "FZO1",
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                },
                {
                    "name": "YBR1241",
                    "type": "synonym"
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                {
                    "id": "0110155",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0110155"
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        {
            "uniprot_canonical_ac": "Q8R500-1",
            "uniprot_ac": "Q8R500",
            "uniprot_id": "MFN2_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
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                {
                    "name": "Rattus norvegicus",
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                    "common_name": "Rat",
                    "glygen_name": "Rat",
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            ],
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                {
                    "name": "Mitofusin-2",
                    "type": "recommended"
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                {
                    "name": "3.6.5.-",
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                },
                {
                    "name": "Mitochondrial transmembrane GTPase FZO1A",
                    "type": "synonym"
                },
                {
                    "name": "Protein HSG",
                    "type": "synonym"
                },
                {
                    "name": "Transmembrane GTPase MFN2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mfn2",
                    "type": "recommended"
                },
                {
                    "name": "Fzo1a",
                    "type": "synonym"
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            ],
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                    "id": "0110155",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110155"
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            ]
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        {
            "uniprot_canonical_ac": "Q8R4Z9-1",
            "uniprot_ac": "Q8R4Z9",
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                    "name": "Mitofusin-1",
                    "type": "recommended"
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                    "name": "3.6.5.-",
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                },
                {
                    "name": "Mitochondrial transmembrane GTPase FZO1B",
                    "type": "synonym"
                },
                {
                    "name": "Transmembrane GTPase MFN1",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial transmembrane GTPase FZO1B",
                    "type": "synonym"
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                    "name": "mitofusin-1",
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                    "name": "transmembrane GTPase MFN1",
                    "type": "synonym"
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                    "name": "Mfn1",
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                    "name": "Fzo1b",
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                },
                {
                    "name": "Mfn1",
                    "type": "synonym"
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            ],
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                {
                    "id": "0110155",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110155"
                }
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            "uniprot_canonical_ac": "O18412-1",
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                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transmembrane GTPase fzo",
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                {
                    "name": "3.6.5.-",
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                },
                {
                    "name": "CG4568-PA",
                    "type": "synonym"
                },
                {
                    "name": "Protein fuzzy onions",
                    "type": "synonym"
                },
                {
                    "name": "fuzzy onions",
                    "type": "synonym"
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                {
                    "name": "fzo-PA",
                    "type": "synonym"
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                    "name": "fzo",
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                    "name": "CG4568",
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                {
                    "name": "Dmel\\CG4568",
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                },
                {
                    "name": "Fzo",
                    "type": "synonym"
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                {
                    "name": "MFN1",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0125274.1",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0125274.25",
                    "type": "synonym"
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                {
                    "name": "anon-WO0125274.26",
                    "type": "synonym"
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                    "name": "fzo",
                    "type": "synonym"
                },
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                    "name": "mfn1",
                    "type": "synonym"
                }
            ],
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            "evidence": [
                {
                    "id": "0110155",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110155"
                }
            ]
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            "uniprot_canonical_ac": "Q7YU24-1",
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                    "name": "Drosophila melanogaster",
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                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                {
                    "name": "Transmembrane GTPase Marf",
                    "type": "recommended"
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                    "name": "3.6.5.-",
                    "type": "synonym"
                },
                {
                    "name": "CG3869-PD",
                    "type": "synonym"
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                {
                    "name": "Marf-PD",
                    "type": "synonym"
                },
                {
                    "name": "Mitochondrial assembly regulatory factor",
                    "type": "synonym"
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                {
                    "name": "Mitofusin",
                    "type": "synonym"
                },
                {
                    "name": "drosophila mitofusin",
                    "type": "synonym"
                },
                {
                    "name": "mitochondria assembly regulatory factor",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial assembly regulatory factor, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial assembly regulatory factor",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial assembly",
                    "type": "synonym"
                },
                {
                    "name": "mitofusin/MARF",
                    "type": "synonym"
                },
                {
                    "name": "mitofusin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Marf",
                    "type": "recommended"
                },
                {
                    "name": "CG3869",
                    "type": "synonym"
                },
                {
                    "name": "CG38869",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3869",
                    "type": "synonym"
                },
                {
                    "name": "MARF",
                    "type": "synonym"
                },
                {
                    "name": "MFN2",
                    "type": "synonym"
                },
                {
                    "name": "MFN",
                    "type": "synonym"
                },
                {
                    "name": "Marf-1",
                    "type": "synonym"
                },
                {
                    "name": "Marf",
                    "type": "synonym"
                },
                {
                    "name": "Mfn-2",
                    "type": "synonym"
                },
                {
                    "name": "Mfn2",
                    "type": "synonym"
                },
                {
                    "name": "Mfn",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0125274.3",
                    "type": "synonym"
                },
                {
                    "name": "dMARF",
                    "type": "synonym"
                },
                {
                    "name": "dMFN",
                    "type": "synonym"
                },
                {
                    "name": "dMarf",
                    "type": "synonym"
                },
                {
                    "name": "dMfn2",
                    "type": "synonym"
                },
                {
                    "name": "dMfn",
                    "type": "synonym"
                },
                {
                    "name": "dmfn",
                    "type": "synonym"
                },
                {
                    "name": "marf",
                    "type": "synonym"
                },
                {
                    "name": "mfn2",
                    "type": "synonym"
                },
                {
                    "name": "mfn",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7YU24-1",
            "evidence": [
                {
                    "id": "0110155",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110155"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8IWA4-1",
            "uniprot_ac": "Q8IWA4",
            "uniprot_id": "MFN1_HUMAN",
            "refseq_ac": "NP_284941",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitofusin-1",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.-",
                    "type": "synonym"
                },
                {
                    "name": "Fzo homolog",
                    "type": "synonym"
                },
                {
                    "name": "Transmembrane GTPase MFN1",
                    "type": "synonym"
                },
                {
                    "name": "fzo homolog",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial transmembrane GTPase FZO-2",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial transmembrane GTPase Fzo-1",
                    "type": "synonym"
                },
                {
                    "name": "mitofusin-1",
                    "type": "synonym"
                },
                {
                    "name": "putative transmembrane GTPase",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane GTPase MFN1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MFN1",
                    "type": "recommended"
                },
                {
                    "name": "MFN1",
                    "type": "synonym"
                },
                {
                    "name": "hfzo1",
                    "type": "synonym"
                },
                {
                    "name": "hfzo2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8IWA4-1",
            "evidence": [
                {
                    "id": "0110155",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110155"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110155"
}