{
    "disease_id": "DOID:0110163",
    "recommended_name": {
        "id": "DOID:0110163",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110163",
        "name": "Charcot-Marie-Tooth disease axonal type 2F",
        "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in mutation in the gene encoding heat-shock 27-kD protein-1 (HSPB1)."
    },
    "synonyms": [
        {
            "id": "DOID:0110163",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110163",
            "name": "CMT2F",
            "description": ""
        },
        {
            "id": "DOID:0110163",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110163",
            "name": "Charcot-Marie-Tooth neuronal type 2F",
            "description": ""
        },
        {
            "id": "DOID:0110163",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110163",
            "name": "Charcot-Marie-Tooth neuropathy type 2F",
            "description": ""
        },
        {
            "id": "DOID:0110163",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110163",
            "name": "autosomal dominant Charcot-Marie-Tooth disease type 2F",
            "description": ""
        },
        {
            "id": "MONDO:0011687",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011687",
            "name": "Charcot-Marie-Tooth disease axonal type 2F",
            "description": "Autosomal dominant Charcot-Marie-Tooth disease type 2F (CMT2F) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2F is characterized by symmetric weakness primarily occurring in the lower limbs (distal muscles in a majority of cases) and reaching the arms only after 5 to 10 years, occasional and predominantly distal sensory loss and reduced tendon reflexes. CMT2F presents with gait anomaly between the 1st and 6th decade and early onset is generally associated to a more severe phenotype which may include foot drop."
        },
        {
            "id": "MONDO:0011687",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011687",
            "name": "CMT2F",
            "description": ""
        },
        {
            "id": "MONDO:0011687",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011687",
            "name": "Charcot-Marie-Tooth disease type 2 caused by mutation in HSPB1",
            "description": ""
        },
        {
            "id": "MONDO:0011687",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011687",
            "name": "HSPB1 Charcot-Marie-Tooth disease type 2",
            "description": ""
        },
        {
            "id": "MONDO:0011687",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011687",
            "name": "autosomal dominant Charcot-Marie-Tooth disease type 2F",
            "description": ""
        },
        {
            "id": "MONDO:0011687",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011687",
            "name": "CMT 2F",
            "description": ""
        },
        {
            "id": "MONDO:0011687",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011687",
            "name": "Charcot Marie Tooth disease type 2F",
            "description": ""
        },
        {
            "id": "MONDO:0011687",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011687",
            "name": "Charcot-Marie-Tooth disease type 2F",
            "description": ""
        },
        {
            "id": "MONDO:0011687",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011687",
            "name": "Charcot-Marie-Tooth disease, axonal, type 2F",
            "description": ""
        },
        {
            "id": "MONDO:0011687",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011687",
            "name": "Charcot-Marie-Tooth disease, neuronal, type 2F",
            "description": ""
        },
        {
            "id": "MONDO:0011687",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011687",
            "name": "Charcot-Marie-Tooth neuropathy, type 2F",
            "description": ""
        },
        {
            "id": "MIM:606595",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/606595",
            "name": "Charcot-Marie-Tooth disease, axonal, type 2F",
            "description": "Charcot-Marie-Tooth disease, axonal, type 2F"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110163"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110163",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110163",
            "categories": []
        },
        {
            "id": "MONDO:0011687",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011687",
            "categories": []
        },
        {
            "id": "MIM:606595",
            "database": "MIM",
            "url": "https://www.omim.org/entry/606595",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P14602-1",
            "uniprot_ac": "P14602",
            "uniprot_id": "HSPB1_MOUSE",
            "refseq_ac": "NP_038588",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Heat shock protein beta-1",
                    "type": "recommended"
                },
                {
                    "name": "Growth-related 25 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "HSP 25",
                    "type": "synonym"
                },
                {
                    "name": "HSP 27",
                    "type": "synonym"
                },
                {
                    "name": "Heat shock 25 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "Heat shock 27 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "HspB1",
                    "type": "synonym"
                },
                {
                    "name": "growth-related 25 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "heat shock 25 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "heat shock 27 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "heat shock 27kDa protein 1",
                    "type": "synonym"
                },
                {
                    "name": "heat shock protein 1",
                    "type": "synonym"
                },
                {
                    "name": "heat shock protein beta-1",
                    "type": "synonym"
                },
                {
                    "name": "heat shock protein, 25 kDa",
                    "type": "synonym"
                },
                {
                    "name": "p25",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hspb1",
                    "type": "recommended"
                },
                {
                    "name": "27kDa",
                    "type": "synonym"
                },
                {
                    "name": "Hsp25",
                    "type": "synonym"
                },
                {
                    "name": "Hsp27",
                    "type": "synonym"
                },
                {
                    "name": "Hspb1",
                    "type": "synonym"
                }
            ],
            "record_id": "P14602-1",
            "evidence": [
                {
                    "id": "0110163",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110163"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P04792-1",
            "uniprot_ac": "P04792",
            "uniprot_id": "HSPB1_HUMAN",
            "refseq_ac": "NP_001531",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Heat shock protein beta-1",
                    "type": "recommended"
                },
                {
                    "name": "28 kDa heat shock protein",
                    "type": "synonym"
                },
                {
                    "name": "Estrogen-regulated 24 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "HSP 27",
                    "type": "synonym"
                },
                {
                    "name": "Heat shock 27 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "Heat shock protein family B member 1",
                    "type": "synonym"
                },
                {
                    "name": "HspB1",
                    "type": "synonym"
                },
                {
                    "name": "SRP27",
                    "type": "synonym"
                },
                {
                    "name": "Stress-responsive protein 27",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory protein Li 102",
                    "type": "synonym"
                },
                {
                    "name": "estrogen-regulated 24 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "heat shock 27 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "heat shock 27kD protein 1",
                    "type": "synonym"
                },
                {
                    "name": "heat shock 27kDa protein 1",
                    "type": "synonym"
                },
                {
                    "name": "heat shock protein beta-1",
                    "type": "synonym"
                },
                {
                    "name": "heat shock protein family B member 1",
                    "type": "synonym"
                },
                {
                    "name": "stress-responsive protein 27",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HSPB1",
                    "type": "recommended"
                },
                {
                    "name": "CMT2F",
                    "type": "synonym"
                },
                {
                    "name": "HEL-S-102",
                    "type": "synonym"
                },
                {
                    "name": "HMN2B",
                    "type": "synonym"
                },
                {
                    "name": "HMND3",
                    "type": "synonym"
                },
                {
                    "name": "HS.76067",
                    "type": "synonym"
                },
                {
                    "name": "HSP27",
                    "type": "synonym"
                },
                {
                    "name": "HSP28",
                    "type": "synonym"
                },
                {
                    "name": "HSPB1",
                    "type": "synonym"
                },
                {
                    "name": "Hsp25",
                    "type": "synonym"
                },
                {
                    "name": "SRP27",
                    "type": "synonym"
                }
            ],
            "record_id": "P04792-1",
            "evidence": [
                {
                    "id": "606595",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/606595"
                },
                {
                    "id": "0110163",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110163"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P42930-1",
            "uniprot_ac": "P42930",
            "uniprot_id": "HSPB1_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Heat shock protein beta-1",
                    "type": "recommended"
                },
                {
                    "name": "HSP 27",
                    "type": "synonym"
                },
                {
                    "name": "Heat shock 27 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "HspB1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hspb1",
                    "type": "recommended"
                },
                {
                    "name": "Hsp27",
                    "type": "synonym"
                }
            ],
            "record_id": "P42930-1",
            "evidence": [
                {
                    "id": "0110163",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110163"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P82147-1",
            "uniprot_ac": "P82147",
            "uniprot_id": "L2EFL_DROME",
            "refseq_ac": "NP_001261156",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein lethal(2)essential for life",
                    "type": "recommended"
                },
                {
                    "name": "CG4533-PC",
                    "type": "synonym"
                },
                {
                    "name": "Protein Efl21",
                    "type": "synonym"
                },
                {
                    "name": "l(2)efl-PC",
                    "type": "synonym"
                },
                {
                    "name": "lethal (2) essential for life, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "lethal (2) essential for life",
                    "type": "synonym"
                },
                {
                    "name": "lethal(2)essential for life",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "l(2)efl",
                    "type": "recommended"
                },
                {
                    "name": "CG4533",
                    "type": "synonym"
                },
                {
                    "name": "CryAB",
                    "type": "synonym"
                },
                {
                    "name": "Cryab",
                    "type": "synonym"
                },
                {
                    "name": "Dmel19.8",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4533",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4533",
                    "type": "synonym"
                },
                {
                    "name": "L(2)EFL",
                    "type": "synonym"
                },
                {
                    "name": "L(2)efl",
                    "type": "synonym"
                },
                {
                    "name": "dCRYAB",
                    "type": "synonym"
                },
                {
                    "name": "dCryAB",
                    "type": "synonym"
                },
                {
                    "name": "el(2)13-1",
                    "type": "synonym"
                },
                {
                    "name": "l(2)13-1",
                    "type": "synonym"
                },
                {
                    "name": "l(2)59Fa",
                    "type": "synonym"
                },
                {
                    "name": "l(2)Efl",
                    "type": "synonym"
                },
                {
                    "name": "l(2)efl",
                    "type": "synonym"
                }
            ],
            "record_id": "P82147-1",
            "evidence": [
                {
                    "id": "0110163",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110163"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VSX2-1",
            "uniprot_ac": "Q9VSX2",
            "uniprot_id": "Q9VSX2_DROME",
            "refseq_ac": "NP_648304",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "SHSP domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "CG4461-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BEST:GH12586",
                    "type": "recommended"
                },
                {
                    "name": "148460_at",
                    "type": "synonym"
                },
                {
                    "name": "4461",
                    "type": "synonym"
                },
                {
                    "name": "BEST:GH12586",
                    "type": "synonym"
                },
                {
                    "name": "CG4461",
                    "type": "synonym"
                },
                {
                    "name": "DmCG4461",
                    "type": "synonym"
                },
                {
                    "name": "Dmel23.8",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4461",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4461",
                    "type": "synonym"
                },
                {
                    "name": "Hsp20",
                    "type": "synonym"
                },
                {
                    "name": "gh12586",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VSX2-1",
            "evidence": [
                {
                    "id": "0110163",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110163"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VL41-1",
            "uniprot_ac": "Q9VL41",
            "uniprot_id": "Q9VL41_DROME",
            "refseq_ac": "NP_609343",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "SHSP domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "CG13133-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG13133",
                    "type": "recommended"
                },
                {
                    "name": "CG13133",
                    "type": "synonym"
                },
                {
                    "name": "Dmel24.5",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG13133",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG13133",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VL41-1",
            "evidence": [
                {
                    "id": "0110163",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110163"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110163"
}