{
    "disease_id": "DOID:0110190",
    "recommended_name": {
        "id": "DOID:0110190",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110190",
        "name": "Charcot-Marie-Tooth disease type 4B2",
        "description": "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the SBF2 gene."
    },
    "synonyms": [
        {
            "id": "DOID:0110190",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110190",
            "name": "CMT4B2",
            "description": ""
        },
        {
            "id": "DOID:0110190",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110190",
            "name": "Charcot-Marie-Tooth neuropathy type 4B2",
            "description": ""
        },
        {
            "id": "DOID:0110190",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110190",
            "name": "autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B2",
            "description": ""
        },
        {
            "id": "MONDO:0011475",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011475",
            "name": "Charcot-Marie-Tooth disease type 4B2",
            "description": "Charcot-Marie-Tooth disease type 4B2 (CMT4B2) is a subtype of Charcot-Marie-Tooth type 4 characterized by a severe, early childhood-onset of demyelinating sensorimotor neuropathy, early-onset glaucoma, focally folded myelin sheaths in the peripheral nerves, severely reduced nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and frequent pes cavus). Severe visual impairment leading to visual loss has also been reported."
        },
        {
            "id": "MONDO:0011475",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011475",
            "name": "CMT4B2",
            "description": ""
        },
        {
            "id": "MONDO:0011475",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011475",
            "name": "Charcot-Marie-Tooth disease type 4 caused by mutation in SBF2",
            "description": ""
        },
        {
            "id": "MONDO:0011475",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011475",
            "name": "Charcot-Marie-Tooth disease type 4B2",
            "description": ""
        },
        {
            "id": "MONDO:0011475",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011475",
            "name": "SBF2 Charcot-Marie-Tooth disease type 4",
            "description": ""
        },
        {
            "id": "MONDO:0011475",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011475",
            "name": "CMT 4B2",
            "description": ""
        },
        {
            "id": "MONDO:0011475",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011475",
            "name": "Charcot Marie Tooth disease type 4B2",
            "description": ""
        },
        {
            "id": "MONDO:0011475",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011475",
            "name": "Charcot-Marie-Tooth disease, type 4B2",
            "description": ""
        },
        {
            "id": "MIM:604563",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/604563",
            "name": "Charcot-Marie-Tooth disease, demyelinating, type 4B2",
            "description": "Charcot-Marie-Tooth disease, demyelinating, type 4B2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110190"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110190",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110190",
            "categories": []
        },
        {
            "id": "MONDO:0011475",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011475",
            "categories": []
        },
        {
            "id": "MIM:604563",
            "database": "MIM",
            "url": "https://www.omim.org/entry/604563",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E7F4G2-1",
            "uniprot_ac": "E7F4G2",
            "uniprot_id": "E7F4G2_DANRE",
            "refseq_ac": "XP_009301876",
            "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 13 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "myotubularin-related protein 13 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "sbf2",
                    "type": "recommended"
                },
                {
                    "name": "sbf2",
                    "type": "synonym"
                }
            ],
            "record_id": "E7F4G2-1",
            "evidence": [
                {
                    "id": "0110190",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110190"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E9PXF8-1",
            "uniprot_ac": "E9PXF8",
            "uniprot_id": "MTMRD_MOUSE",
            "refseq_ac": "NP_796298",
            "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 13",
                    "type": "recommended"
                },
                {
                    "name": "Inactive phosphatidylinositol 3-phosphatase 13",
                    "type": "synonym"
                },
                {
                    "name": "SET-binding factor 2",
                    "type": "synonym"
                },
                {
                    "name": "inactive phosphatidylinositol 3-phosphatase 13",
                    "type": "synonym"
                },
                {
                    "name": "myotubularin related protein 13",
                    "type": "synonym"
                },
                {
                    "name": "myotubularin-related protein 13 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "myotubularin-related protein 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sbf2",
                    "type": "recommended"
                },
                {
                    "name": "4833411B01Rik",
                    "type": "synonym"
                },
                {
                    "name": "B430219L04Rik",
                    "type": "synonym"
                },
                {
                    "name": "Mtmr13",
                    "type": "synonym"
                },
                {
                    "name": "Sbf2",
                    "type": "synonym"
                },
                {
                    "name": "mMTMH1",
                    "type": "synonym"
                }
            ],
            "record_id": "E9PXF8-1",
            "evidence": [
                {
                    "id": "0110190",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110190"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q86WG5-1",
            "uniprot_ac": "Q86WG5",
            "uniprot_id": "MTMRD_HUMAN",
            "refseq_ac": "NP_112224",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myotubularin-related protein 13",
                    "type": "recommended"
                },
                {
                    "name": "DENN/MADD domain containing 7B",
                    "type": "synonym"
                },
                {
                    "name": "Inactive phosphatidylinositol 3-phosphatase 13",
                    "type": "synonym"
                },
                {
                    "name": "SET-binding factor 2",
                    "type": "synonym"
                },
                {
                    "name": "inactive phosphatidylinositol 3-phosphatase 13",
                    "type": "synonym"
                },
                {
                    "name": "myotubularin-related protein 13 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "myotubularin-related protein 13",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SBF2",
                    "type": "recommended"
                },
                {
                    "name": "CMT4B2",
                    "type": "synonym"
                },
                {
                    "name": "DENND7B",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1766",
                    "type": "synonym"
                },
                {
                    "name": "MTMR13",
                    "type": "synonym"
                },
                {
                    "name": "SBF2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q86WG5-1",
            "evidence": [
                {
                    "id": "604563",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/604563"
                },
                {
                    "id": "0110190",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110190"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2K1T3-1",
            "uniprot_ac": "A0A0G2K1T3",
            "uniprot_id": "A0A0G2K1T3_RAT",
            "refseq_ac": "NP_001427201",
            "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 2",
                    "type": "synonym"
                },
                {
                    "name": "myotubularin-related protein 13 isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "myotubularin-related protein 13",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sbf2",
                    "type": "recommended"
                },
                {
                    "name": "Mtmr13",
                    "type": "synonym"
                },
                {
                    "name": "RGD1559442",
                    "type": "synonym"
                },
                {
                    "name": "Sbf2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0G2K1T3-1",
            "evidence": [
                {
                    "id": "0110190",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110190"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "G3V8D4-1",
            "uniprot_ac": "G3V8D4",
            "uniprot_id": "APOC2_RAT",
            "refseq_ac": "NP_001078821",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Apolipoprotein C-II",
                    "type": "recommended"
                },
                {
                    "name": "Apo-CII",
                    "type": "synonym"
                },
                {
                    "name": "ApoC-II",
                    "type": "synonym"
                },
                {
                    "name": "Apolipoprotein C2",
                    "type": "synonym"
                },
                {
                    "name": "apolipoprotein C-II precursor",
                    "type": "synonym"
                },
                {
                    "name": "apolipoprotein C-II",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Apoc2",
                    "type": "recommended"
                },
                {
                    "name": "Apo-CII",
                    "type": "synonym"
                },
                {
                    "name": "ApoC-II",
                    "type": "synonym"
                },
                {
                    "name": "Apoc2",
                    "type": "synonym"
                },
                {
                    "name": "RGD1560725",
                    "type": "synonym"
                }
            ],
            "record_id": "G3V8D4-1",
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                {
                    "id": "0110190",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110190"
                }
            ]
        },
        {
            "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",
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                {
                    "id": "0110190",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110190"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110190"
}