{
    "disease_id": "DOID:0110150",
    "recommended_name": {
        "id": "DOID:0110150",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110150",
        "name": "Charcot-Marie-Tooth disease type 1D",
        "description": "A Charcot-Marie-Tooth disease type 1 that has_material_basis_in mutation in the early growth response gene-2 (EGR2)."
    },
    "synonyms": [
        {
            "id": "DOID:0110150",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110150",
            "name": "CMT1D",
            "description": ""
        },
        {
            "id": "DOID:0110150",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110150",
            "name": "Charcot-Marie-Tooth neuropathy type 1D",
            "description": ""
        },
        {
            "id": "DOID:0110150",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110150",
            "name": "HMSN ID",
            "description": ""
        },
        {
            "id": "DOID:0110150",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110150",
            "name": "HMSN1D",
            "description": ""
        },
        {
            "id": "DOID:0110150",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110150",
            "name": "hereditary motor and sensory neuropathy 1D",
            "description": ""
        },
        {
            "id": "MONDO:0011890",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011890",
            "name": "Charcot-Marie-Tooth disease type 1D",
            "description": "A form of CMT1, caused by mutations in the EGR2 gene (10q21.1), with a variable severity and age of onset (from infancy to adulthood), that usually presents with gait abnormalities, progressive wasting and weakness of distal limb muscles, with possible later involvement of proximal muscles, foot deformity and severe reduction in nerve conduction velocity. Additional features may include scoliosis, cranial nerve deficits such as diplopia, and bilateral vocal cord paresis."
        },
        {
            "id": "MONDO:0011890",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011890",
            "name": "CMT1D",
            "description": ""
        },
        {
            "id": "MONDO:0011890",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011890",
            "name": "Charcot-Marie-Tooth disease type 1 caused by mutation in EGR2",
            "description": ""
        },
        {
            "id": "MONDO:0011890",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011890",
            "name": "Charcot-Marie-Tooth disease, type 1D",
            "description": ""
        },
        {
            "id": "MONDO:0011890",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011890",
            "name": "EGR2 Charcot-Marie-Tooth disease type 1",
            "description": ""
        },
        {
            "id": "MONDO:0011890",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011890",
            "name": "HMSN1D",
            "description": ""
        },
        {
            "id": "MONDO:0011890",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011890",
            "name": "hereditary motor and sensory neuropathy 1D",
            "description": ""
        },
        {
            "id": "MONDO:0011890",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011890",
            "name": "CMT 1D",
            "description": ""
        },
        {
            "id": "MONDO:0011890",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011890",
            "name": "Charcot Marie Tooth disease type 1D",
            "description": ""
        },
        {
            "id": "MONDO:0011890",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011890",
            "name": "Charcot-Marie-Tooth disease, demyelinating, type 1D",
            "description": ""
        },
        {
            "id": "MIM:607678",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/607678",
            "name": "Charcot-Marie-Tooth disease, demyelinating, type 1D",
            "description": "Charcot-Marie-Tooth disease, demyelinating, type 1D"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110150"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110150",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110150",
            "categories": []
        },
        {
            "id": "MONDO:0011890",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011890",
            "categories": []
        },
        {
            "id": "MIM:607678",
            "database": "MIM",
            "url": "https://www.omim.org/entry/607678",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E7F266-1",
            "uniprot_ac": "E7F266",
            "uniprot_id": "E7F266_DANRE",
            "refseq_ac": "NP_001315333",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "E3 SUMO-protein ligase EGR2a isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "krox-20",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "egr2a",
                    "type": "recommended"
                },
                {
                    "name": "egr2a",
                    "type": "synonym"
                },
                {
                    "name": "frb35",
                    "type": "synonym"
                }
            ],
            "record_id": "E7F266-1",
            "evidence": [
                {
                    "id": "0110150",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110150"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q05159-1",
            "uniprot_ac": "Q05159",
            "uniprot_id": "EGR2B_DANRE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Early growth response protein 2b",
                    "type": "recommended"
                },
                {
                    "name": "EGR-2b",
                    "type": "synonym"
                },
                {
                    "name": "Protein krx-20",
                    "type": "synonym"
                },
                {
                    "name": "Zinc finger protein Krox-20",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "egr2b",
                    "type": "recommended"
                },
                {
                    "name": "KRX-20",
                    "type": "synonym"
                },
                {
                    "name": "cb427",
                    "type": "synonym"
                },
                {
                    "name": "egr2",
                    "type": "synonym"
                },
                {
                    "name": "id:ibd5073",
                    "type": "synonym"
                },
                {
                    "name": "krox20",
                    "type": "synonym"
                },
                {
                    "name": "krx-20",
                    "type": "synonym"
                },
                {
                    "name": "krx20",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb71h10",
                    "type": "synonym"
                },
                {
                    "name": "zgc:92210",
                    "type": "synonym"
                }
            ],
            "record_id": "Q05159-1",
            "evidence": [
                {
                    "id": "0110150",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110150"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P08152-1",
            "uniprot_ac": "P08152",
            "uniprot_id": "EGR2_MOUSE",
            "refseq_ac": "NP_001334387",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "E3 SUMO-protein ligase EGR2",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.-",
                    "type": "synonym"
                },
                {
                    "name": "E3 SUMO-protein ligase EGR2 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "E3 SUMO-protein ligase EGR2",
                    "type": "synonym"
                },
                {
                    "name": "E3 SUMO-protein transferase ERG2",
                    "type": "synonym"
                },
                {
                    "name": "EGR-2",
                    "type": "synonym"
                },
                {
                    "name": "Early growth response protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Zinc finger protein Krox-20",
                    "type": "synonym"
                },
                {
                    "name": "early growth response protein 2",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein Krox-20",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Egr2",
                    "type": "recommended"
                },
                {
                    "name": "Egr-2",
                    "type": "synonym"
                },
                {
                    "name": "Egr2",
                    "type": "synonym"
                },
                {
                    "name": "Krox-20",
                    "type": "synonym"
                },
                {
                    "name": "Krox20",
                    "type": "synonym"
                },
                {
                    "name": "NGF1-B",
                    "type": "synonym"
                },
                {
                    "name": "Zfp-25",
                    "type": "synonym"
                },
                {
                    "name": "Zfp-6",
                    "type": "synonym"
                }
            ],
            "record_id": "P08152-1",
            "evidence": [
                {
                    "id": "0110150",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110150"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P11161-1",
            "uniprot_ac": "P11161",
            "uniprot_id": "EGR2_HUMAN",
            "refseq_ac": "NP_000390",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "E3 SUMO-protein ligase EGR2",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.-",
                    "type": "synonym"
                },
                {
                    "name": "AT591",
                    "type": "synonym"
                },
                {
                    "name": "E3 SUMO-protein ligase EGR2 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "E3 SUMO-protein ligase EGR2",
                    "type": "synonym"
                },
                {
                    "name": "E3 SUMO-protein transferase ERG2",
                    "type": "synonym"
                },
                {
                    "name": "EGR-2",
                    "type": "synonym"
                },
                {
                    "name": "Early growth response protein 2",
                    "type": "synonym"
                },
                {
                    "name": "KROX-20, Drosophila, homolog (early growth response-2)",
                    "type": "synonym"
                },
                {
                    "name": "Zinc finger protein Krox-20",
                    "type": "synonym"
                },
                {
                    "name": "early growth response protein 2",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein Krox-20",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "EGR2",
                    "type": "recommended"
                },
                {
                    "name": "AT591",
                    "type": "synonym"
                },
                {
                    "name": "CMT1D",
                    "type": "synonym"
                },
                {
                    "name": "CMT4E",
                    "type": "synonym"
                },
                {
                    "name": "EGR2",
                    "type": "synonym"
                },
                {
                    "name": "KROX20",
                    "type": "synonym"
                }
            ],
            "record_id": "P11161-1",
            "evidence": [
                {
                    "id": "607678",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/607678"
                },
                {
                    "id": "0110150",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110150"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P51774-1",
            "uniprot_ac": "P51774",
            "uniprot_id": "EGR2_RAT",
            "refseq_ac": "NP_446085",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "E3 SUMO-protein ligase EGR2",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.-",
                    "type": "synonym"
                },
                {
                    "name": "E3 SUMO-protein ligase EGR2",
                    "type": "synonym"
                },
                {
                    "name": "E3 SUMO-protein transferase ERG2",
                    "type": "synonym"
                },
                {
                    "name": "EGR-2",
                    "type": "synonym"
                },
                {
                    "name": "Early growth response protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Zinc finger protein Krox-20",
                    "type": "synonym"
                },
                {
                    "name": "early growth response protein 2",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein Krox-20",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Egr2",
                    "type": "recommended"
                },
                {
                    "name": "Egr-2",
                    "type": "synonym"
                },
                {
                    "name": "Egr2",
                    "type": "synonym"
                },
                {
                    "name": "Krox-20",
                    "type": "synonym"
                },
                {
                    "name": "Krox20",
                    "type": "synonym"
                }
            ],
            "record_id": "P51774-1",
            "evidence": [
                {
                    "id": "0110150",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110150"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P70536-1",
            "uniprot_ac": "P70536",
            "uniprot_id": "OXYR_RAT",
            "refseq_ac": "NP_037003",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Oxytocin receptor",
                    "type": "recommended"
                },
                {
                    "name": "OT-R",
                    "type": "synonym"
                },
                {
                    "name": "oxcytocin receptor",
                    "type": "synonym"
                },
                {
                    "name": "oxytocin receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Oxtr",
                    "type": "recommended"
                },
                {
                    "name": "OT-R",
                    "type": "synonym"
                },
                {
                    "name": "OTR1",
                    "type": "synonym"
                },
                {
                    "name": "OTR",
                    "type": "synonym"
                },
                {
                    "name": "Otr",
                    "type": "synonym"
                },
                {
                    "name": "Oxtr",
                    "type": "synonym"
                }
            ],
            "record_id": "P70536-1",
            "evidence": [
                {
                    "id": "0110150",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110150"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110150"
}