{
    "disease_id": "DOID:0110194",
    "recommended_name": {
        "id": "DOID:0110194",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110194",
        "name": "Charcot-Marie-Tooth disease type 4B3",
        "description": "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the SBF1 gene on chromosome 22q."
    },
    "synonyms": [
        {
            "id": "DOID:0110194",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110194",
            "name": "CMT4B3",
            "description": ""
        },
        {
            "id": "MONDO:0014117",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014117",
            "name": "Charcot-Marie-Tooth disease type 4B3",
            "description": "Charcot-Marie-Tooth disease type 4B3 (CMT4B3) is a subtype of Charcot-Marie-Tooth type 4 characterized by a childhood onset of slowly progressing, demyelinating sensorimotor neuropathy, focally folded myelin sheaths in nerve biopsy, reduced nerve conduction velocities (less than 38 m/s), and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, and sensory loss)."
        },
        {
            "id": "MONDO:0014117",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014117",
            "name": "CMT4B3",
            "description": ""
        },
        {
            "id": "MONDO:0014117",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014117",
            "name": "Charcot-Marie-Tooth disease type 4 caused by mutation in SBF1",
            "description": ""
        },
        {
            "id": "MONDO:0014117",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014117",
            "name": "Charcot-Marie-Tooth disease with focally folded myelin",
            "description": ""
        },
        {
            "id": "MONDO:0014117",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014117",
            "name": "SBF1 Charcot-Marie-Tooth disease type 4",
            "description": ""
        },
        {
            "id": "MONDO:0014117",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014117",
            "name": "Charcot-Marie-Tooth disease, type 4B3",
            "description": ""
        },
        {
            "id": "MIM:615284",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615284",
            "name": "Charcot-Marie-Tooth disease, demyelinating, type 4B3",
            "description": "Charcot-Marie-Tooth disease, demyelinating, type 4B3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110194"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110194",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110194",
            "categories": []
        },
        {
            "id": "MONDO:0014117",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014117",
            "categories": []
        },
        {
            "id": "MIM:615284",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615284",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A2R8PWA9-1",
            "uniprot_ac": "A0A2R8PWA9",
            "uniprot_id": "A0A2R8PWA9_DANRE",
            "refseq_ac": "XP_009298445",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myotubularin-related protein 5 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "myotubularin-related protein 5 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "sbf1",
                    "type": "recommended"
                },
                {
                    "name": "sbf1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj45d12",
                    "type": "synonym"
                },
                {
                    "name": "zgc:92634",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A2R8PWA9-1",
            "evidence": [
                {
                    "id": "0110194",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110194"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6ZPE2-1",
            "uniprot_ac": "Q6ZPE2",
            "uniprot_id": "MTMR5_MOUSE",
            "refseq_ac": "NP_001074499",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myotubularin-related protein 5",
                    "type": "recommended"
                },
                {
                    "name": "Inactive phosphatidylinositol 3-phosphatase 5",
                    "type": "synonym"
                },
                {
                    "name": "SET-binding factor 1",
                    "type": "synonym"
                },
                {
                    "name": "Sbf1",
                    "type": "synonym"
                },
                {
                    "name": "inactive phosphatidylinositol 3-phosphatase 5",
                    "type": "synonym"
                },
                {
                    "name": "myotubularin-related protein 5 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "myotubularin-related protein 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sbf1",
                    "type": "recommended"
                },
                {
                    "name": "2610510A08Rik",
                    "type": "synonym"
                },
                {
                    "name": "B230113C15Rik",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa3020",
                    "type": "synonym"
                },
                {
                    "name": "Mtmr5",
                    "type": "synonym"
                },
                {
                    "name": "Sbf1",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA3020",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6ZPE2-1",
            "evidence": [
                {
                    "id": "0110194",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110194"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O95248-1",
            "uniprot_ac": "O95248",
            "uniprot_id": "MTMR5_HUMAN",
            "refseq_ac": "NP_002963",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myotubularin-related protein 5",
                    "type": "recommended"
                },
                {
                    "name": "DENN/MADD domain containing 7A",
                    "type": "synonym"
                },
                {
                    "name": "Inactive phosphatidylinositol 3-phosphatase 5",
                    "type": "synonym"
                },
                {
                    "name": "SET-binding factor 1",
                    "type": "synonym"
                },
                {
                    "name": "Sbf1",
                    "type": "synonym"
                },
                {
                    "name": "inactive phosphatidylinositol 3-phosphatase 5",
                    "type": "synonym"
                },
                {
                    "name": "myotubularin-related protein 5 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "myotubularin-related protein 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SBF1",
                    "type": "recommended"
                },
                {
                    "name": "CMT4B3",
                    "type": "synonym"
                },
                {
                    "name": "DENND7A",
                    "type": "synonym"
                },
                {
                    "name": "MTMR5",
                    "type": "synonym"
                },
                {
                    "name": "SBF1",
                    "type": "synonym"
                }
            ],
            "record_id": "O95248-1",
            "evidence": [
                {
                    "id": "615284",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615284"
                },
                {
                    "id": "0110194",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110194"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "M0RAP5-1",
            "uniprot_ac": "M0RAP5",
            "uniprot_id": "M0RAP5_RAT",
            "refseq_ac": "NP_001258102",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "SET binding factor 1",
                    "type": "synonym"
                },
                {
                    "name": "myotubularin-related protein 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sbf1",
                    "type": "recommended"
                },
                {
                    "name": "Sbf1",
                    "type": "synonym"
                }
            ],
            "record_id": "M0RAP5-1",
            "evidence": [
                {
                    "id": "0110194",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110194"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VGH9-1",
            "uniprot_ac": "Q9VGH9",
            "uniprot_id": "Q9VGH9_DROME",
            "refseq_ac": "NP_477401",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG6939-PA",
                    "type": "synonym"
                },
                {
                    "name": "SET domain binding factor, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Sbf-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sbf",
                    "type": "recommended"
                },
                {
                    "name": "13",
                    "type": "synonym"
                },
                {
                    "name": "CG6939",
                    "type": "synonym"
                },
                {
                    "name": "DSbf1",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6939",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG6939",
                    "type": "synonym"
                },
                {
                    "name": "MTMR5/13",
                    "type": "synonym"
                },
                {
                    "name": "SBF1",
                    "type": "synonym"
                },
                {
                    "name": "SBF",
                    "type": "synonym"
                },
                {
                    "name": "Sbf1",
                    "type": "synonym"
                },
                {
                    "name": "Sbf",
                    "type": "synonym"
                },
                {
                    "name": "dSbf1",
                    "type": "synonym"
                },
                {
                    "name": "sbf",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VGH9-1",
            "evidence": [
                {
                    "id": "0110194",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110194"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110194"
}