{
    "disease_id": "DOID:0111560",
    "recommended_name": {
        "id": "DOID:0111560",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111560",
        "name": "Charcot-Marie-Tooth disease type 1G",
        "description": "A Charcot-Marie-Tooth disease type 1 characterized by distal muscle weakness and atrophy with onset in the first or second decade of life that has_material_basis_in heterozygous mutation in the PMP2 gene on chromosome 8q21.13."
    },
    "synonyms": [
        {
            "id": "DOID:0111560",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111560",
            "name": "CMT1G",
            "description": ""
        },
        {
            "id": "DOID:0111560",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111560",
            "name": "PMP2-related hereditary motor and sensory neuropathy type 1",
            "description": ""
        },
        {
            "id": "DOID:0111560",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111560",
            "name": "PMP2-related CMT1",
            "description": ""
        },
        {
            "id": "DOID:0111560",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111560",
            "name": "PMP2-related Charcot-Marie-Tooth disease type 1",
            "description": ""
        },
        {
            "id": "DOID:0111560",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111560",
            "name": "PMP2-related Charcot-Marie-Tooth neuropathy type 1",
            "description": ""
        },
        {
            "id": "MONDO:0033135",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033135",
            "name": "Charcot-Marie-Tooth disease, demyelinating, type 1G",
            "description": "A rare autosomal dominant hereditary demyelinating motor and sensory neuropathy characterized by progressive distal muscle weakness and atrophy, distal sensory impairment, and decreased or absent reflexes in the affected limbs, with an onset in the first or second decade of life. Median motor nerve conduction velocities are typically less than 38 m/s. Patients often have foot deformities. Sural nerve biopsy shows decrease in myelinated fibers, myelin abnormalities, and onion bulb formation. Fatty replacement of muscle tissue predominantly affects the anterior and lateral compartment of the lower legs."
        },
        {
            "id": "MONDO:0033135",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033135",
            "name": "CMT1G",
            "description": ""
        },
        {
            "id": "MONDO:0033135",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033135",
            "name": "Charcot-Marie-Tooth disease, demyelinating, type 1G",
            "description": ""
        },
        {
            "id": "MONDO:0033135",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033135",
            "name": "PMP2-related Charcot-Marie-Tooth disease type 1",
            "description": ""
        },
        {
            "id": "MIM:618279",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618279",
            "name": "Charcot-Marie-Tooth disease, demyelinating, type 1G",
            "description": "Charcot-Marie-Tooth disease, demyelinating, type 1G"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111560"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111560",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111560",
            "categories": []
        },
        {
            "id": "MONDO:0033135",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033135",
            "categories": []
        },
        {
            "id": "MIM:618279",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618279",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P24526-1",
            "uniprot_ac": "P24526",
            "uniprot_id": "MYP2_MOUSE",
            "refseq_ac": "NP_001025476",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myelin P2 protein",
                    "type": "recommended"
                },
                {
                    "name": "myelin P2 protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pmp2",
                    "type": "recommended"
                },
                {
                    "name": "P2",
                    "type": "synonym"
                },
                {
                    "name": "Pmp2",
                    "type": "synonym"
                }
            ],
            "record_id": "P24526-1",
            "evidence": [
                {
                    "id": "0111560",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111560"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P02689-1",
            "uniprot_ac": "P02689",
            "uniprot_id": "MYP2_HUMAN",
            "refseq_ac": "NP_002668",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myelin P2 protein",
                    "type": "recommended"
                },
                {
                    "name": "Peripheral myelin protein 2",
                    "type": "synonym"
                },
                {
                    "name": "myelin P2 protein isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "myelin P2 protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PMP2",
                    "type": "recommended"
                },
                {
                    "name": "CMT1G",
                    "type": "synonym"
                },
                {
                    "name": "FABP8",
                    "type": "synonym"
                },
                {
                    "name": "M-FABP",
                    "type": "synonym"
                },
                {
                    "name": "MP2",
                    "type": "synonym"
                },
                {
                    "name": "P2",
                    "type": "synonym"
                },
                {
                    "name": "PMP2",
                    "type": "synonym"
                }
            ],
            "record_id": "P02689-1",
            "evidence": [
                {
                    "id": "618279",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618279"
                },
                {
                    "id": "0111560",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111560"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZFG5-1",
            "uniprot_ac": "D3ZFG5",
            "uniprot_id": "D3ZFG5_RAT",
            "refseq_ac": "NP_001102984",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myelin P2 protein",
                    "type": "recommended"
                },
                {
                    "name": "myelin P2 protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pmp2",
                    "type": "recommended"
                },
                {
                    "name": "Pmp2",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZFG5-1",
            "evidence": [
                {
                    "id": "0111560",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111560"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8INK3-1",
            "uniprot_ac": "Q8INK3",
            "uniprot_id": "Q8INK3_DROME",
            "refseq_ac": "NP_001027179",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fatty acid-binding protein, muscle",
                    "type": "recommended"
                },
                {
                    "name": "CG6783-PC",
                    "type": "synonym"
                },
                {
                    "name": "M-FABP",
                    "type": "synonym"
                },
                {
                    "name": "fabp-PC",
                    "type": "synonym"
                },
                {
                    "name": "fatty acid bindin protein",
                    "type": "synonym"
                },
                {
                    "name": "fatty acid binding protein, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "fatty-acid binding protein",
                    "type": "synonym"
                },
                {
                    "name": "fatty-acid-binding protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "fabp",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:RH06221",
                    "type": "synonym"
                },
                {
                    "name": "BcDNA:RH46282",
                    "type": "synonym"
                },
                {
                    "name": "BcDNA:RH49003",
                    "type": "synonym"
                },
                {
                    "name": "BcDNA:SD12036",
                    "type": "synonym"
                },
                {
                    "name": "CG31305-PI",
                    "type": "synonym"
                },
                {
                    "name": "CG31305",
                    "type": "synonym"
                },
                {
                    "name": "CG6783",
                    "type": "synonym"
                },
                {
                    "name": "CT21061",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6783",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG6783",
                    "type": "synonym"
                },
                {
                    "name": "FABP",
                    "type": "synonym"
                },
                {
                    "name": "Fabp",
                    "type": "synonym"
                },
                {
                    "name": "anon-EST:Posey234",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0140519.12",
                    "type": "synonym"
                },
                {
                    "name": "dFABP",
                    "type": "synonym"
                },
                {
                    "name": "dFabp",
                    "type": "synonym"
                },
                {
                    "name": "fabp",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8INK3-1",
            "evidence": [
                {
                    "id": "0111560",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111560"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111560"
}