{
    "disease_id": "DOID:0111559",
    "recommended_name": {
        "id": "DOID:0111559",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111559",
        "name": "Charcot-Marie-Tooth disease type 2EE",
        "description": "A Charcot-Marie-Tooth disease type 2 characterized by slowly progressive axonal neuropathy primarily affecting the lower limbs with onset in the first or second decades of life that has_material_basis_in homozygous or compound heterozygous mutation in the MPV17 gene on chromosome 2p23.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111559",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111559",
            "name": "CMT2EE",
            "description": ""
        },
        {
            "id": "DOID:0111559",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111559",
            "name": "Charcot-Marie-Tooth disease, axonal, type 2EE",
            "description": ""
        },
        {
            "id": "MONDO:0032728",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032728",
            "name": "Charcot-Marie-Tooth disease, axonal, type 2EE",
            "description": ""
        },
        {
            "id": "MONDO:0032728",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032728",
            "name": "CMT2EE",
            "description": ""
        },
        {
            "id": "MIM:618400",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618400",
            "name": "Charcot-Marie-Tooth disease, axonal, type 2EE",
            "description": "Charcot-Marie-Tooth disease, axonal, type 2EE"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111559"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111559",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111559",
            "categories": []
        },
        {
            "id": "MONDO:0032728",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032728",
            "categories": []
        },
        {
            "id": "MIM:618400",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618400",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q5TZ51-1",
            "uniprot_ac": "Q5TZ51",
            "uniprot_id": "MPV17_DANRE",
            "refseq_ac": "NP_957459",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial inner membrane protein Mpv17",
                    "type": "recommended"
                },
                {
                    "name": "MpV17 mitochondrial inner membrane protein",
                    "type": "synonym"
                },
                {
                    "name": "MpV17 transgene, murine homolog, glomerulosclerosis",
                    "type": "synonym"
                },
                {
                    "name": "Protein Mpv17",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial inner membrane protein Mpv17",
                    "type": "synonym"
                },
                {
                    "name": "protein Mpv17",
                    "type": "synonym"
                },
                {
                    "name": "transparent",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mpv17",
                    "type": "recommended"
                },
                {
                    "name": "mpv17",
                    "type": "synonym"
                },
                {
                    "name": "roy",
                    "type": "synonym"
                },
                {
                    "name": "zgc:63573",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5TZ51-1",
            "evidence": [
                {
                    "id": "0111559",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111559"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P19258-1",
            "uniprot_ac": "P19258",
            "uniprot_id": "MPV17_MOUSE",
            "refseq_ac": "NP_001281253",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial inner membrane protein Mpv17",
                    "type": "recommended"
                },
                {
                    "name": "Mpv-17",
                    "type": "synonym"
                },
                {
                    "name": "Protein Mpv17",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial inner membrane protein Mpv17 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial inner membrane protein Mpv17",
                    "type": "synonym"
                },
                {
                    "name": "protein Mpv17",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mpv17",
                    "type": "recommended"
                },
                {
                    "name": "Mpv17",
                    "type": "synonym"
                },
                {
                    "name": "Tg.Mpv17",
                    "type": "synonym"
                }
            ],
            "record_id": "P19258-1",
            "evidence": [
                {
                    "id": "0111559",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111559"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P39210-1",
            "uniprot_ac": "P39210",
            "uniprot_id": "MPV17_HUMAN",
            "refseq_ac": "NP_002428",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial inner membrane protein Mpv17",
                    "type": "recommended"
                },
                {
                    "name": "MPV17, mitochondrial inner membrane protein",
                    "type": "synonym"
                },
                {
                    "name": "MpV17 mitochondrial inner membrane protein",
                    "type": "synonym"
                },
                {
                    "name": "Mpv17, human homolog of glomerulosclerosis and nephrotic syndrome",
                    "type": "synonym"
                },
                {
                    "name": "Protein Mpv17",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial inner membrane protein Mpv17 isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "protein Mpv17",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MPV17",
                    "type": "recommended"
                },
                {
                    "name": "CMT2EE",
                    "type": "synonym"
                },
                {
                    "name": "MPV17",
                    "type": "synonym"
                },
                {
                    "name": "MTDPS6",
                    "type": "synonym"
                },
                {
                    "name": "SYM1",
                    "type": "synonym"
                }
            ],
            "record_id": "P39210-1",
            "evidence": [
                {
                    "id": "618400",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618400"
                },
                {
                    "id": "0111559",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111559"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q06563-1",
            "uniprot_ac": "Q06563",
            "uniprot_id": "SYM1_YEAST",
            "refseq_ac": "NP_013352",
            "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": "Protein SYM1",
                    "type": "recommended"
                },
                {
                    "name": "Stress-inducible yeast MPV17 protein 1",
                    "type": "synonym"
                },
                {
                    "name": "ethanol metabolism protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SYM1",
                    "type": "recommended"
                },
                {
                    "name": "SYM1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q06563-1",
            "evidence": [
                {
                    "id": "0111559",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111559"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5BK62-1",
            "uniprot_ac": "Q5BK62",
            "uniprot_id": "MPV17_RAT",
            "refseq_ac": "NP_001091710",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial inner membrane protein Mpv17",
                    "type": "recommended"
                },
                {
                    "name": "MPV17 mitochondrial membrane protein-like",
                    "type": "synonym"
                },
                {
                    "name": "MpV17 mitochondrial inner membrane protein",
                    "type": "synonym"
                },
                {
                    "name": "Mpv17 transgene, kidney disease mutant-like",
                    "type": "synonym"
                },
                {
                    "name": "Protein Mpv17",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial inner membrane protein Mpv17",
                    "type": "synonym"
                },
                {
                    "name": "protein Mpv17",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mpv17",
                    "type": "recommended"
                },
                {
                    "name": "Mpv17l",
                    "type": "synonym"
                },
                {
                    "name": "Mpv17",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5BK62-1",
            "evidence": [
                {
                    "id": "0111559",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111559"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9V492-1",
            "uniprot_ac": "Q9V492",
            "uniprot_id": "MPV17_DROME",
            "refseq_ac": "NP_651944",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial inner membrane protein Mpv17",
                    "type": "recommended"
                },
                {
                    "name": "CG11077-PA",
                    "type": "synonym"
                },
                {
                    "name": "Mpv17-PA",
                    "type": "synonym"
                },
                {
                    "name": "Mpv17-like protein",
                    "type": "synonym"
                },
                {
                    "name": "dMpv17",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial inner membrane protein MPV17",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mpv17",
                    "type": "recommended"
                },
                {
                    "name": "CG11077",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG11077",
                    "type": "synonym"
                },
                {
                    "name": "MPV17",
                    "type": "synonym"
                },
                {
                    "name": "Mpv17",
                    "type": "synonym"
                },
                {
                    "name": "PMP22",
                    "type": "synonym"
                },
                {
                    "name": "dMpv17",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9V492-1",
            "evidence": [
                {
                    "id": "0111559",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111559"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111559"
}