{
    "disease_id": "DOID:0110197",
    "recommended_name": {
        "id": "DOID:0110197",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110197",
        "name": "Charcot-Marie-Tooth disease dominant intermediate B",
        "description": "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in mutation in the gene encoding dynamin-2 (DNM2)."
    },
    "synonyms": [
        {
            "id": "DOID:0110197",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110197",
            "name": "CMTDI1",
            "description": ""
        },
        {
            "id": "DOID:0110197",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110197",
            "name": "CMTDIB",
            "description": ""
        },
        {
            "id": "DOID:0110197",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110197",
            "name": "DI-CMTB",
            "description": ""
        },
        {
            "id": "DOID:0110197",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110197",
            "name": "Charcot-Marie-Tooth neuropathy dominant intermediate B",
            "description": ""
        },
        {
            "id": "MONDO:0011674",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011674",
            "name": "Charcot-Marie-Tooth disease dominant intermediate B",
            "description": "Autosomal dominant intermediate Charcot-Marie-Tooth disease type B is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with mild to moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings include asymptomatic neutropenia and early-onset cataracts."
        },
        {
            "id": "MONDO:0011674",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011674",
            "name": "CMTDI1",
            "description": ""
        },
        {
            "id": "MONDO:0011674",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011674",
            "name": "CMTDIB",
            "description": ""
        },
        {
            "id": "MONDO:0011674",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011674",
            "name": "Charcot-Marie-Tooth disease caused by mutation in DNM2",
            "description": ""
        },
        {
            "id": "MONDO:0011674",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011674",
            "name": "Charcot-Marie-Tooth disease dominant intermediate type B",
            "description": ""
        },
        {
            "id": "MONDO:0011674",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011674",
            "name": "Charcot-Marie-Tooth disease, axonal type 2M",
            "description": ""
        },
        {
            "id": "MONDO:0011674",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011674",
            "name": "Charcot-Marie-Tooth disease, dominant Intermediate type B",
            "description": ""
        },
        {
            "id": "MONDO:0011674",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011674",
            "name": "DI-CMTB",
            "description": ""
        },
        {
            "id": "MONDO:0011674",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011674",
            "name": "DNM2 Charcot-Marie-Tooth disease",
            "description": ""
        },
        {
            "id": "MONDO:0011674",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011674",
            "name": "Charcot-Marie-Tooth disease, dominant intermediate B",
            "description": ""
        },
        {
            "id": "MONDO:0011674",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011674",
            "name": "DNM2-related intermediate Charcot-Marie-Tooth neuropathy",
            "description": ""
        },
        {
            "id": "MIM:606482",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/606482",
            "name": "Charcot-Marie-Tooth disease, dominant intermediate B",
            "description": "Charcot-Marie-Tooth disease, dominant intermediate B"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110197"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110197",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110197",
            "categories": []
        },
        {
            "id": "MONDO:0011674",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011674",
            "categories": []
        },
        {
            "id": "MIM:606482",
            "database": "MIM",
            "url": "https://www.omim.org/entry/606482",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AB32TD14-1",
            "uniprot_ac": "A0AB32TD14",
            "uniprot_id": "A0AB32TD14_DANRE",
            "refseq_ac": "XP_068073278",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "dynamin GTPase",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.5",
                    "type": "synonym"
                },
                {
                    "name": "dynamin-2 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "dnm2a",
                    "type": "recommended"
                },
                {
                    "name": "dnm2a",
                    "type": "synonym"
                },
                {
                    "name": "dnm2",
                    "type": "synonym"
                },
                {
                    "name": "zgc:114072",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB32TD14-1",
            "evidence": [
                {
                    "id": "0110197",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110197"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M3APM4-1",
            "uniprot_ac": "A0A8M3APM4",
            "uniprot_id": "A0A8M3APM4_DANRE",
            "refseq_ac": "XP_009296165",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myxovirus (Influenza virus) resistance G isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "myxovirus (influenza virus) resistance G isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mxg",
                    "type": "recommended"
                },
                {
                    "name": "mxg",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3APM4-1",
            "evidence": [
                {
                    "id": "0110197",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110197"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8JH68-1",
            "uniprot_ac": "Q8JH68",
            "uniprot_id": "MXA_DANRE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interferon-induced GTP-binding protein MxA",
                    "type": "recommended"
                },
                {
                    "name": "IFN-inducible antiviral protein MxA",
                    "type": "synonym"
                },
                {
                    "name": "Interferon-inducible MxA protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mxa",
                    "type": "recommended"
                },
                {
                    "name": "Mx",
                    "type": "synonym"
                },
                {
                    "name": "fj23d12",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj23d12",
                    "type": "synonym"
                },
                {
                    "name": "zgc:136725",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8JH68-1",
            "evidence": [
                {
                    "id": "0110197",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110197"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6DKF0-1",
            "uniprot_ac": "Q6DKF0",
            "uniprot_id": "MXC_DANRE",
            "refseq_ac": "NP_001007285",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interferon-induced GTP-binding protein MxC",
                    "type": "recommended"
                },
                {
                    "name": "IFN-inducible antiviral protein MxC",
                    "type": "synonym"
                },
                {
                    "name": "Interferon-inducible MxC protein",
                    "type": "synonym"
                },
                {
                    "name": "interferon-induced GTP-binding protein MxC",
                    "type": "synonym"
                },
                {
                    "name": "interferon-inducible MxC protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mxc",
                    "type": "recommended"
                },
                {
                    "name": "mxc",
                    "type": "synonym"
                },
                {
                    "name": "zgc:91988",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6DKF0-1",
            "evidence": [
                {
                    "id": "0110197",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110197"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P39054-1",
            "uniprot_ac": "P39054",
            "uniprot_id": "DYN2_MOUSE",
            "refseq_ac": "NP_001240822",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dynamin-2",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.5",
                    "type": "synonym"
                },
                {
                    "name": "Dynamin UDNM",
                    "type": "synonym"
                },
                {
                    "name": "dynamin-2 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dnm2",
                    "type": "recommended"
                },
                {
                    "name": "Dnm2",
                    "type": "synonym"
                },
                {
                    "name": "Dyn2",
                    "type": "synonym"
                },
                {
                    "name": "Udnm",
                    "type": "synonym"
                },
                {
                    "name": "b2b2159Clo",
                    "type": "synonym"
                }
            ],
            "record_id": "P39054-1",
            "evidence": [
                {
                    "id": "0110197",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110197"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9WVP9-1",
            "uniprot_ac": "Q9WVP9",
            "uniprot_id": "MX2_MOUSE",
            "refseq_ac": "NP_038634",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interferon-induced GTP-binding protein Mx2",
                    "type": "recommended"
                },
                {
                    "name": "Myxovirus resistance protein 2",
                    "type": "synonym"
                },
                {
                    "name": "interferon-induced GTP-binding protein Mx2",
                    "type": "synonym"
                },
                {
                    "name": "myxovirus (influenza virus) resistance 2",
                    "type": "synonym"
                },
                {
                    "name": "myxovirus resistance protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mx2",
                    "type": "recommended"
                },
                {
                    "name": "Mx-2",
                    "type": "synonym"
                },
                {
                    "name": "Mx2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9WVP9-1",
            "evidence": [
                {
                    "id": "0110197",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110197"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P50570-1",
            "uniprot_ac": "P50570",
            "uniprot_id": "DYN2_HUMAN",
            "refseq_ac": "NP_001005360",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dynamin-2",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.5",
                    "type": "synonym"
                },
                {
                    "name": "Dynamin 2",
                    "type": "synonym"
                },
                {
                    "name": "Dynamin II",
                    "type": "synonym"
                },
                {
                    "name": "dynamin II",
                    "type": "synonym"
                },
                {
                    "name": "dynamin-2 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DNM2",
                    "type": "recommended"
                },
                {
                    "name": "CMT2M",
                    "type": "synonym"
                },
                {
                    "name": "CMTDI1",
                    "type": "synonym"
                },
                {
                    "name": "CMTDIB",
                    "type": "synonym"
                },
                {
                    "name": "DI-CMTB",
                    "type": "synonym"
                },
                {
                    "name": "DNM2",
                    "type": "synonym"
                },
                {
                    "name": "DYN2",
                    "type": "synonym"
                },
                {
                    "name": "DYNII",
                    "type": "synonym"
                },
                {
                    "name": "LCCS5",
                    "type": "synonym"
                }
            ],
            "record_id": "P50570-1",
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                {
                    "id": "606482",
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                    "url": "https://www.omim.org/entry/606482"
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                {
                    "id": "0110197",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110197"
                }
            ]
        },
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            "uniprot_canonical_ac": "P21576-1",
            "uniprot_ac": "P21576",
            "uniprot_id": "VPS1_YEAST",
            "refseq_ac": "NP_012926",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vacuolar protein sorting-associated protein 1",
                    "type": "recommended"
                },
                {
                    "name": "dynamin-like GTPase VPS1",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "VPS1",
                    "type": "recommended"
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                {
                    "name": "GRD1",
                    "type": "synonym"
                },
                {
                    "name": "LAM1",
                    "type": "synonym"
                },
                {
                    "name": "SPO15",
                    "type": "synonym"
                },
                {
                    "name": "VPL1",
                    "type": "synonym"
                },
                {
                    "name": "VPS1",
                    "type": "synonym"
                },
                {
                    "name": "VPT26",
                    "type": "synonym"
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                {
                    "id": "0110197",
                    "database": "AGR",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "P39052-1",
            "uniprot_ac": "P39052",
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            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                {
                    "name": "Dynamin-2",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.5",
                    "type": "synonym"
                },
                {
                    "name": "dynamin-2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dnm2",
                    "type": "recommended"
                },
                {
                    "name": "DYIIAAB",
                    "type": "synonym"
                },
                {
                    "name": "Dnm2",
                    "type": "synonym"
                },
                {
                    "name": "Dyn2",
                    "type": "synonym"
                }
            ],
            "record_id": "P39052-1",
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                {
                    "id": "0110197",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110197"
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            ]
        },
        {
            "uniprot_canonical_ac": "P18588-1",
            "uniprot_ac": "P18588",
            "uniprot_id": "MX1_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
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                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
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                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interferon-induced GTP-binding protein Mx1",
                    "type": "recommended"
                },
                {
                    "name": "Myxoma resistance protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Myxovirus resistance protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mx1",
                    "type": "recommended"
                }
            ],
            "record_id": "P18588-1",
            "evidence": [
                {
                    "id": "0110197",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110197"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P27619-1",
            "uniprot_ac": "P27619",
            "uniprot_id": "DYN_DROME",
            "refseq_ac": "NP_001036278",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                {
                    "name": "Dynamin",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.5",
                    "type": "synonym"
                },
                {
                    "name": "CG18102-PH",
                    "type": "synonym"
                },
                {
                    "name": "Protein shibire",
                    "type": "synonym"
                },
                {
                    "name": "dDyn",
                    "type": "synonym"
                },
                {
                    "name": "dynamin",
                    "type": "synonym"
                },
                {
                    "name": "shi-PH",
                    "type": "synonym"
                },
                {
                    "name": "shibere",
                    "type": "synonym"
                },
                {
                    "name": "shibire, isoform H",
                    "type": "synonym"
                },
                {
                    "name": "shibire",
                    "type": "synonym"
                },
                {
                    "name": "shibiri",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "shi",
                    "type": "recommended"
                },
                {
                    "name": "CG18102",
                    "type": "synonym"
                },
                {
                    "name": "DNM3",
                    "type": "synonym"
                },
                {
                    "name": "DYN",
                    "type": "synonym"
                },
                {
                    "name": "Ddyn3",
                    "type": "synonym"
                },
                {
                    "name": "Ddyn4",
                    "type": "synonym"
                },
                {
                    "name": "Ddyn",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG18102",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG18102",
                    "type": "synonym"
                },
                {
                    "name": "Dynamin",
                    "type": "synonym"
                },
                {
                    "name": "Dyn",
                    "type": "synonym"
                },
                {
                    "name": "Shibire",
                    "type": "synonym"
                },
                {
                    "name": "Shi",
                    "type": "synonym"
                },
                {
                    "name": "Vps1",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0153538.12",
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    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110197"
}