{
    "disease_id": "DOID:0110202",
    "recommended_name": {
        "id": "DOID:0110202",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110202",
        "name": "Charcot-Marie-Tooth disease dominant intermediate A",
        "description": "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in variation in the region 10q24.1-q25.1."
    },
    "synonyms": [
        {
            "id": "DOID:0110202",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110202",
            "name": "autosomal dominant intermediate Charcot-Marie-Tooth disease type A",
            "description": ""
        },
        {
            "id": "DOID:0110202",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110202",
            "name": "CMTDIA",
            "description": ""
        },
        {
            "id": "DOID:0110202",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110202",
            "name": "DI-CMTA",
            "description": ""
        },
        {
            "id": "DOID:0110202",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110202",
            "name": "Charcot-Marie-Tooth neuropathy dominant intermediate A",
            "description": ""
        },
        {
            "id": "MONDO:0011675",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011675",
            "name": "Charcot-Marie-Tooth Disease, axonal, type 2GG",
            "description": "Autosomal dominant intermediate Charcot-Marie-Tooth disease type A 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 usual clinical features of Charcot-Marie-Tooth disease (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities) in the first to second decade of life with steady progression until the fourth decade, severe progression and stabilization afterwards."
        },
        {
            "id": "MONDO:0011675",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011675",
            "name": "CMT2GG",
            "description": ""
        },
        {
            "id": "MONDO:0011675",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011675",
            "name": "CMTDIA",
            "description": ""
        },
        {
            "id": "MONDO:0011675",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011675",
            "name": "Charcot-Marie-Tooth disease dominant intermediate type A",
            "description": ""
        },
        {
            "id": "MONDO:0011675",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011675",
            "name": "autosomal dominant intermediate Charcot-Marie-Tooth disease type A",
            "description": ""
        },
        {
            "id": "MONDO:0011675",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011675",
            "name": "Charcot-Marie-Tooth disease, dominant intermediate A",
            "description": ""
        },
        {
            "id": "MIM:606483",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/606483",
            "name": "Charcot-Marie-Tooth disease, axonal, type 2GG",
            "description": "Charcot-Marie-Tooth disease, axonal, type 2GG"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110202"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110202",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110202",
            "categories": []
        },
        {
            "id": "MONDO:0011675",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011675",
            "categories": []
        },
        {
            "id": "MIM:606483",
            "database": "MIM",
            "url": "https://www.omim.org/entry/606483",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6DFZ1-1",
            "uniprot_ac": "Q6DFZ1",
            "uniprot_id": "GBF1_MOUSE",
            "refseq_ac": "NP_849261",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1",
                    "type": "recommended"
                },
                {
                    "name": "BFA-resistant GEF 1",
                    "type": "synonym"
                },
                {
                    "name": "Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1",
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                }
            ],
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                {
                    "name": "Gbf1",
                    "type": "recommended"
                },
                {
                    "name": "1700083E03Rik",
                    "type": "synonym"
                },
                {
                    "name": "Gbf1",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA0248",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6DFZ1-1",
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                {
                    "id": "0110202",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110202"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q92538-4",
            "uniprot_ac": "Q92538",
            "uniprot_id": "GBF1_HUMAN",
            "refseq_ac": "NP_001186307",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1",
                    "type": "recommended"
                },
                {
                    "name": "BFA-resistant GEF 1",
                    "type": "synonym"
                },
                {
                    "name": "Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GBF1",
                    "type": "recommended"
                },
                {
                    "name": "ARF1GEF",
                    "type": "synonym"
                },
                {
                    "name": "CMT2GG",
                    "type": "synonym"
                },
                {
                    "name": "CMTDI2",
                    "type": "synonym"
                },
                {
                    "name": "CMTDIA",
                    "type": "synonym"
                },
                {
                    "name": "GBF1",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0248",
                    "type": "synonym"
                }
            ],
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                    "id": "606483",
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                    "url": "https://www.omim.org/entry/606483"
                },
                {
                    "id": "0110202",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110202"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P47102-1",
            "uniprot_ac": "P47102",
            "uniprot_id": "GEA1_YEAST",
            "refseq_ac": "NP_012565",
            "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": "ARF guanine-nucleotide exchange factor 1",
                    "type": "recommended"
                },
                {
                    "name": "Arf family guanine nucleotide exchange factor GEA1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GEA1",
                    "type": "recommended"
                },
                {
                    "name": "GEA1",
                    "type": "synonym"
                },
                {
                    "name": "J1580",
                    "type": "synonym"
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            ],
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                {
                    "id": "0110202",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110202"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P39993-1",
            "uniprot_ac": "P39993",
            "uniprot_id": "GEA2_YEAST",
            "refseq_ac": "NP_010892",
            "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": "ARF guanine-nucleotide exchange factor 2",
                    "type": "recommended"
                },
                {
                    "name": "Arf family guanine nucleotide exchange factor GEA2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GEA2",
                    "type": "recommended"
                },
                {
                    "name": "GEA2",
                    "type": "synonym"
                }
            ],
            "record_id": "P39993-1",
            "evidence": [
                {
                    "id": "0110202",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110202"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1M8X9-1",
            "uniprot_ac": "F1M8X9",
            "uniprot_id": "F1M8X9_RAT",
            "refseq_ac": "NP_001424991",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1",
                    "type": "recommended"
                },
                {
                    "name": "Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1",
                    "type": "synonym"
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                {
                    "name": "golgi-specific brefeldin A resistant guanine nucleotide exchange factor 1",
                    "type": "synonym"
                },
                {
                    "name": "golgi-specific brefeldin A-resistance factor 1",
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                }
            ],
            "gene_names": [
                {
                    "name": "Gbf1",
                    "type": "recommended"
                },
                {
                    "name": "Gbf1",
                    "type": "synonym"
                },
                {
                    "name": "RGD1307160",
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                }
            ],
            "record_id": "F1M8X9-1",
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                {
                    "id": "0110202",
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            "uniprot_canonical_ac": "A1Z8W8-1",
            "uniprot_ac": "A1Z8W8",
            "uniprot_id": "A1Z8W8_DROME",
            "refseq_ac": "NP_610761",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1",
                    "type": "recommended"
                },
                {
                    "name": "CG8487-PB",
                    "type": "synonym"
                },
                {
                    "name": "angina",
                    "type": "synonym"
                },
                {
                    "name": "angle wing",
                    "type": "synonym"
                },
                {
                    "name": "gartenzwerg, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "gartenzwerg",
                    "type": "synonym"
                },
                {
                    "name": "garz-PB",
                    "type": "synonym"
                },
                {
                    "name": "sec7-family GEF",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "garz",
                    "type": "recommended"
                },
                {
                    "name": "ARF1GEF",
                    "type": "synonym"
                },
                {
                    "name": "ArfGEF",
                    "type": "synonym"
                },
                {
                    "name": "CG 8487",
                    "type": "synonym"
                },
                {
                    "name": "CG8487",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8487",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG8487",
                    "type": "synonym"
                },
                {
                    "name": "GBF1",
                    "type": "synonym"
                },
                {
                    "name": "GEF",
                    "type": "synonym"
                },
                {
                    "name": "Garz",
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                },
                {
                    "name": "ang",
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                },
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                    "name": "garz",
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                    "id": "0110202",
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                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110202"
}