{
    "disease_id": "DOID:0110159",
    "recommended_name": {
        "id": "DOID:0110159",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110159",
        "name": "Charcot-Marie-Tooth disease type 2B",
        "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the RAB7 gene on chromosome 3q21."
    },
    "synonyms": [
        {
            "id": "DOID:0110159",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110159",
            "name": "autosomal dominant Charcot-Marie-Tooth disease type 2B",
            "description": ""
        },
        {
            "id": "DOID:0110159",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110159",
            "name": "CMT2B",
            "description": ""
        },
        {
            "id": "DOID:0110159",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110159",
            "name": "Charcot-Marie-Tooth neuropathy type 2B",
            "description": ""
        },
        {
            "id": "DOID:0110159",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110159",
            "name": "HMSN IIB",
            "description": ""
        },
        {
            "id": "DOID:0110159",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110159",
            "name": "HMSN2B",
            "description": ""
        },
        {
            "id": "DOID:0110159",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110159",
            "name": "hereditary motor and sensory nueropathy IIB",
            "description": ""
        },
        {
            "id": "MONDO:0010949",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010949",
            "name": "Charcot-Marie-Tooth disease type 2B",
            "description": "Autosomal dominant Charcot-Marie-Tooth disease type 2B (CMT2B) is a severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2B onset, in the 2nd or 3rd decade, is characterized by ulcerations and infections of feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss, tendon reflexes are only reduced at ankles and foot deformities, including pes cavus or planus and hammer toes, appear in childhood."
        },
        {
            "id": "MONDO:0010949",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010949",
            "name": "CMT2B",
            "description": ""
        },
        {
            "id": "MONDO:0010949",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010949",
            "name": "Charcot-Marie-Tooth disease type 2 caused by mutation in RAB7A",
            "description": ""
        },
        {
            "id": "MONDO:0010949",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010949",
            "name": "Charcot-Marie-Tooth disease, type 2B",
            "description": ""
        },
        {
            "id": "MONDO:0010949",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010949",
            "name": "HMSN2B",
            "description": ""
        },
        {
            "id": "MONDO:0010949",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010949",
            "name": "RAB7A Charcot-Marie-Tooth disease type 2",
            "description": ""
        },
        {
            "id": "MONDO:0010949",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010949",
            "name": "autosomal dominant Charcot-Marie-Tooth disease type 2B",
            "description": ""
        },
        {
            "id": "MONDO:0010949",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010949",
            "name": "CMT 2B",
            "description": ""
        },
        {
            "id": "MONDO:0010949",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010949",
            "name": "Charcot Marie Tooth disease type 2B",
            "description": ""
        },
        {
            "id": "MONDO:0010949",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010949",
            "name": "Charcot-Marie-Tooth disease, axonal, type 2B",
            "description": ""
        },
        {
            "id": "MONDO:0010949",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010949",
            "name": "Charcot-Marie-Tooth disease, neuronal, type 2B",
            "description": ""
        },
        {
            "id": "MONDO:0010949",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010949",
            "name": "hereditary motor and sensory neuropathy 2 B (HMSN 2 B)",
            "description": ""
        },
        {
            "id": "MONDO:0010949",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010949",
            "name": "peripheral sensory neuropathy, autosomal dominant (PSN)",
            "description": ""
        },
        {
            "id": "MIM:600882",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/600882",
            "name": "Charcot-Marie-Tooth disease, axonal, type 2B",
            "description": "Charcot-Marie-Tooth disease, axonal, type 2B"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110159"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110159",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110159",
            "categories": []
        },
        {
            "id": "MONDO:0010949",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010949",
            "categories": []
        },
        {
            "id": "MIM:600882",
            "database": "MIM",
            "url": "https://www.omim.org/entry/600882",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P51150-1",
            "uniprot_ac": "P51150",
            "uniprot_id": "RAB7A_MOUSE",
            "refseq_ac": "NP_001280581",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ras-related protein Rab-7a",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.2",
                    "type": "synonym"
                },
                {
                    "name": "ras-related protein Rab-7a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rab7a",
                    "type": "recommended"
                },
                {
                    "name": "Rab7",
                    "type": "recommended"
                },
                {
                    "name": "Rab7a",
                    "type": "synonym"
                },
                {
                    "name": "Rab7",
                    "type": "synonym"
                }
            ],
            "record_id": "P51150-1",
            "evidence": [
                {
                    "id": "0110159",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110159"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P51149-1",
            "uniprot_ac": "P51149",
            "uniprot_id": "RAB7A_HUMAN",
            "refseq_ac": "NP_004628",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ras-related protein Rab-7a",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.2",
                    "type": "synonym"
                },
                {
                    "name": "RAB7, member RAS oncogene family",
                    "type": "synonym"
                },
                {
                    "name": "Ras-associated protein RAB7",
                    "type": "synonym"
                },
                {
                    "name": "ras-related protein Rab-7a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RAB7A",
                    "type": "recommended"
                },
                {
                    "name": "CMT2B",
                    "type": "synonym"
                },
                {
                    "name": "PRO2706",
                    "type": "synonym"
                },
                {
                    "name": "RAB7A",
                    "type": "synonym"
                },
                {
                    "name": "RAB7",
                    "type": "synonym"
                }
            ],
            "record_id": "P51149-1",
            "evidence": [
                {
                    "id": "600882",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/600882"
                },
                {
                    "id": "0110159",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110159"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P32939-1",
            "uniprot_ac": "P32939",
            "uniprot_id": "YPT7_YEAST",
            "refseq_ac": "NP_013713",
            "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": "Ypt/Rab-type GTPase YPT7",
                    "type": "recommended"
                },
                {
                    "name": "Rab family GTPase YPT7",
                    "type": "synonym"
                },
                {
                    "name": "Vacuolar morphology protein 4",
                    "type": "synonym"
                },
                {
                    "name": "Ypt7p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "YPT7",
                    "type": "recommended"
                },
                {
                    "name": "AST4",
                    "type": "synonym"
                },
                {
                    "name": "VAM4",
                    "type": "synonym"
                },
                {
                    "name": "YM8270.02",
                    "type": "synonym"
                },
                {
                    "name": "YPT7",
                    "type": "synonym"
                }
            ],
            "record_id": "P32939-1",
            "evidence": [
                {
                    "id": "0110159",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110159"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P09527-1",
            "uniprot_ac": "P09527",
            "uniprot_id": "RAB7A_RAT",
            "refseq_ac": "NP_076440",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ras-related protein Rab-7a",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.2",
                    "type": "synonym"
                },
                {
                    "name": "RAB7, member RAS oncogene family",
                    "type": "synonym"
                },
                {
                    "name": "Ras-related protein BRL-RAS",
                    "type": "synonym"
                },
                {
                    "name": "Ras-related protein p23",
                    "type": "synonym"
                },
                {
                    "name": "ras-related protein BRL-RAS",
                    "type": "synonym"
                },
                {
                    "name": "ras-related protein Rab-7a",
                    "type": "synonym"
                },
                {
                    "name": "ras-related protein p23",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rab7a",
                    "type": "recommended"
                },
                {
                    "name": "Rab7a",
                    "type": "synonym"
                },
                {
                    "name": "Rab7",
                    "type": "synonym"
                }
            ],
            "record_id": "P09527-1",
            "evidence": [
                {
                    "id": "0110159",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110159"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O76742-1",
            "uniprot_ac": "O76742",
            "uniprot_id": "RAB7_DROME",
            "refseq_ac": "NP_001247276",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ras-related protein Rab7",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.2",
                    "type": "synonym"
                },
                {
                    "name": "CG5915-PB",
                    "type": "synonym"
                },
                {
                    "name": "DRab7",
                    "type": "synonym"
                },
                {
                    "name": "Rab-protein 7",
                    "type": "synonym"
                },
                {
                    "name": "Rab7, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "Rab7-PB",
                    "type": "synonym"
                },
                {
                    "name": "Small monomeric GTPase Rab7",
                    "type": "synonym"
                },
                {
                    "name": "Small ras-like GTPase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rab7",
                    "type": "recommended"
                },
                {
                    "name": "AAF56218",
                    "type": "synonym"
                },
                {
                    "name": "CG5915",
                    "type": "synonym"
                },
                {
                    "name": "DRAB7",
                    "type": "synonym"
                },
                {
                    "name": "DRab7",
                    "type": "synonym"
                },
                {
                    "name": "Dm Rab7",
                    "type": "synonym"
                },
                {
                    "name": "DmRab7",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5915",
                    "type": "synonym"
                },
                {
                    "name": "Drab7",
                    "type": "synonym"
                },
                {
                    "name": "O76742",
                    "type": "synonym"
                },
                {
                    "name": "RAB7",
                    "type": "synonym"
                },
                {
                    "name": "Rab-7",
                    "type": "synonym"
                },
                {
                    "name": "Rab-r7",
                    "type": "synonym"
                },
                {
                    "name": "Rab7A",
                    "type": "synonym"
                },
                {
                    "name": "Rab7",
                    "type": "synonym"
                },
                {
                    "name": "dRab7",
                    "type": "synonym"
                },
                {
                    "name": "drab7",
                    "type": "synonym"
                },
                {
                    "name": "rab7",
                    "type": "synonym"
                }
            ],
            "record_id": "O76742-1",
            "evidence": [
                {
                    "id": "0110159",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110159"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110159"
}