{
    "disease_id": "DOID:0110206",
    "recommended_name": {
        "id": "DOID:0110206",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110206",
        "name": "Charcot-Marie-Tooth disease dominant intermediate F",
        "description": "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the GNB4 gene on chromosome 3q28."
    },
    "synonyms": [
        {
            "id": "DOID:0110206",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110206",
            "name": "CMTDIF",
            "description": ""
        },
        {
            "id": "DOID:0110206",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110206",
            "name": "autosomal dominant intermediate Charcot-Marie-Tooth disease type F",
            "description": ""
        },
        {
            "id": "MONDO:0014074",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014074",
            "name": "Charcot-Marie-Tooth disease dominant intermediate F",
            "description": "Autosomal dominant intermediate Charcot-Marie-Tooth disease type F is a rare hereditary motor and sensory neuropathy disorder characterized by the typical CMT phenotype (slowly progressive distal muscle atrophy and weakness in upper and lower limbs, distal sensory loss in extremities, reduced or absent deep tendon reflexes and foot deformities) with nerve biopsy demonstrating demyelinating and axonal changes and nerve conduction velocities varying from the demyelinating to axonal range."
        },
        {
            "id": "MONDO:0014074",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014074",
            "name": "CMTDIF",
            "description": ""
        },
        {
            "id": "MONDO:0014074",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014074",
            "name": "Charcot-Marie-Tooth disease dominant intermediate type F",
            "description": ""
        },
        {
            "id": "MONDO:0014074",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014074",
            "name": "Charcot-Marie-Tooth disease, dominant Intermediate type F",
            "description": ""
        },
        {
            "id": "MONDO:0014074",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014074",
            "name": "autosomal dominant intermediate Charcot-Marie-Tooth disease type F",
            "description": ""
        },
        {
            "id": "MONDO:0014074",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014074",
            "name": "Charcot-Marie-Tooth disease, dominant intermediate F",
            "description": ""
        },
        {
            "id": "MONDO:0014074",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014074",
            "name": "DI-CMTF",
            "description": ""
        },
        {
            "id": "MONDO:0014074",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014074",
            "name": "GNB4-related intermediate Charcot-Marie-Tooth neuropathy",
            "description": ""
        },
        {
            "id": "MIM:615185",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615185",
            "name": "Charcot-Marie-Tooth disease, dominant intermediate F",
            "description": "Charcot-Marie-Tooth disease, dominant intermediate F"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110206"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110206",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110206",
            "categories": []
        },
        {
            "id": "MONDO:0014074",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014074",
            "categories": []
        },
        {
            "id": "MIM:615185",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615185",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A2R8RKX9-1",
            "uniprot_ac": "A0A2R8RKX9",
            "uniprot_id": "A0A2R8RKX9_DANRE",
            "refseq_ac": "NP_001429080",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Guanine nucleotide binding protein (G protein), beta polypeptide 4b isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "guanine nucleotide binding protein (G protein), beta polypeptide 4b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "gnb4b",
                    "type": "recommended"
                },
                {
                    "name": "gnb4b",
                    "type": "synonym"
                },
                {
                    "name": "zgc:101614",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A2R8RKX9-1",
            "evidence": [
                {
                    "id": "0110206",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110206"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P29387-1",
            "uniprot_ac": "P29387",
            "uniprot_id": "GBB4_MOUSE",
            "refseq_ac": "NP_001334991",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Guanine nucleotide-binding protein subunit beta-4",
                    "type": "recommended"
                },
                {
                    "name": "Transducin beta chain 4",
                    "type": "synonym"
                },
                {
                    "name": "guanine nucleotide-binding protein subunit beta-4 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "guanine nucleotide-binding protein subunit beta-4",
                    "type": "synonym"
                },
                {
                    "name": "heterotrimeric guanine nucleotide-binding protein 2b",
                    "type": "synonym"
                },
                {
                    "name": "transducin beta chain 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gnb4",
                    "type": "recommended"
                },
                {
                    "name": "6720453A21Rik",
                    "type": "synonym"
                },
                {
                    "name": "G(beta)4",
                    "type": "synonym"
                },
                {
                    "name": "Gnb4",
                    "type": "synonym"
                },
                {
                    "name": "Hg2b",
                    "type": "synonym"
                }
            ],
            "record_id": "P29387-1",
            "evidence": [
                {
                    "id": "0110206",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110206"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9HAV0-1",
            "uniprot_ac": "Q9HAV0",
            "uniprot_id": "GBB4_HUMAN",
            "refseq_ac": "NP_067642",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Guanine nucleotide-binding protein subunit beta-4",
                    "type": "recommended"
                },
                {
                    "name": "G protein beta-4 subunit",
                    "type": "synonym"
                },
                {
                    "name": "Transducin beta chain 4",
                    "type": "synonym"
                },
                {
                    "name": "guanine nucleotide binding protein (G protein), beta polypeptide 4",
                    "type": "synonym"
                },
                {
                    "name": "guanine nucleotide-binding protein subunit beta-4",
                    "type": "synonym"
                },
                {
                    "name": "heterotrimeric guanine nucleotide-binding protein 2B",
                    "type": "synonym"
                },
                {
                    "name": "transducin beta chain 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GNB4",
                    "type": "recommended"
                },
                {
                    "name": "CMTD1F",
                    "type": "synonym"
                },
                {
                    "name": "GNB4",
                    "type": "synonym"
                },
                {
                    "name": "HG2B",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9HAV0-1",
            "evidence": [
                {
                    "id": "615185",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615185"
                },
                {
                    "id": "0110206",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110206"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P18851-1",
            "uniprot_ac": "P18851",
            "uniprot_id": "GBB_YEAST",
            "refseq_ac": "NP_014855",
            "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": "Guanine nucleotide-binding protein subunit beta",
                    "type": "recommended"
                },
                {
                    "name": "G protein subunit beta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "STE4",
                    "type": "recommended"
                },
                {
                    "name": "HMD2",
                    "type": "synonym"
                },
                {
                    "name": "STE4",
                    "type": "synonym"
                },
                {
                    "name": "YOR50-2",
                    "type": "synonym"
                }
            ],
            "record_id": "P18851-1",
            "evidence": [
                {
                    "id": "0110206",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110206"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O35353-1",
            "uniprot_ac": "O35353",
            "uniprot_id": "GBB4_RAT",
            "refseq_ac": "NP_001013932",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Guanine nucleotide-binding protein subunit beta-4",
                    "type": "recommended"
                },
                {
                    "name": "G-protein beta 4 subunit",
                    "type": "synonym"
                },
                {
                    "name": "Transducin beta chain 4",
                    "type": "synonym"
                },
                {
                    "name": "guanine nucleotide binding protein (G protein), beta 4",
                    "type": "synonym"
                },
                {
                    "name": "guanine nucleotide binding protein (G protein), beta polypeptide 4",
                    "type": "synonym"
                },
                {
                    "name": "guanine nucleotide binding protein beta 4 subunit",
                    "type": "synonym"
                },
                {
                    "name": "guanine nucleotide binding protein, beta 4",
                    "type": "synonym"
                },
                {
                    "name": "guanine nucleotide-binding protein subunit beta-4-like",
                    "type": "synonym"
                },
                {
                    "name": "guanine nucleotide-binding protein subunit beta-4",
                    "type": "synonym"
                },
                {
                    "name": "transducin beta chain 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gnb4",
                    "type": "recommended"
                },
                {
                    "name": "Gnb4",
                    "type": "synonym"
                }
            ],
            "record_id": "O35353-1",
            "evidence": [
                {
                    "id": "0110206",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110206"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P26308-1",
            "uniprot_ac": "P26308",
            "uniprot_id": "GBB1_DROME",
            "refseq_ac": "NP_001303567",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Guanine nucleotide-binding protein subunit beta-1",
                    "type": "recommended"
                },
                {
                    "name": "CG10545-PH",
                    "type": "synonym"
                },
                {
                    "name": "G protein beta subunit 13F, isoform H",
                    "type": "synonym"
                },
                {
                    "name": "G protein beta subunit",
                    "type": "synonym"
                },
                {
                    "name": "G protein beta-subunit 13F",
                    "type": "synonym"
                },
                {
                    "name": "G-protein beta 13F",
                    "type": "synonym"
                },
                {
                    "name": "G[[beta]] brain",
                    "type": "synonym"
                },
                {
                    "name": "Gbeta13F-PH",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gbeta13F",
                    "type": "recommended"
                },
                {
                    "name": "4 like",
                    "type": "synonym"
                },
                {
                    "name": "CG10545",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10545",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG10545",
                    "type": "synonym"
                },
                {
                    "name": "G b13F",
                    "type": "synonym"
                },
                {
                    "name": "G protein &bgr",
                    "type": "synonym"
                },
                {
                    "name": "G-betab",
                    "type": "synonym"
                },
                {
                    "name": "G-beta",
                    "type": "synonym"
                },
                {
                    "name": "GNB1/2/3/4 like",
                    "type": "synonym"
                },
                {
                    "name": "G[[beta13F]]",
                    "type": "synonym"
                },
                {
                    "name": "G[[beta]]",
                    "type": "synonym"
                },
                {
                    "name": "Gb13F",
                    "type": "synonym"
                },
                {
                    "name": "Gbb",
                    "type": "synonym"
                },
                {
                    "name": "Gbeta13F",
                    "type": "synonym"
                },
                {
                    "name": "Gbeta13",
                    "type": "synonym"
                },
                {
                    "name": "Gbeta",
                    "type": "synonym"
                },
                {
                    "name": "anon-EST:Liang-1.22",
                    "type": "synonym"
                },
                {
                    "name": "clone 1.22",
                    "type": "synonym"
                },
                {
                    "name": "dgbeta",
                    "type": "synonym"
                },
                {
                    "name": "gbeta13F",
                    "type": "synonym"
                }
            ],
            "record_id": "P26308-1",
            "evidence": [
                {
                    "id": "0110206",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110206"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110206"
}