{
    "disease_id": "DOID:0110165",
    "recommended_name": {
        "id": "DOID:0110165",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110165",
        "name": "Charcot-Marie-Tooth disease type 2E",
        "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the light polypeptide neurofilament protein gene (NEFL) on chromosome 8p21."
    },
    "synonyms": [
        {
            "id": "DOID:0110165",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110165",
            "name": "autosomal dominant Charcot-Marie-Tooth disease type 2E",
            "description": ""
        },
        {
            "id": "DOID:0110165",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110165",
            "name": "CMT2E",
            "description": ""
        },
        {
            "id": "DOID:0110165",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110165",
            "name": "Charcot-Marie-Tooth neuropathy type 2E",
            "description": ""
        },
        {
            "id": "MONDO:0011894",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011894",
            "name": "Charcot-Marie-Tooth disease type 2E",
            "description": "Autosomal dominant Charcot-Marie-Tooth disease type 2E (CMT2E) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2E onset is in the first to 6th decade with a gait anomaly and a leg weakness that reaches the arms secondarily. Tendon reflexes are reduced or absent and, after years, all patients have a pes cavus. Other signs may be present, including hearing loss and postural tremor."
        },
        {
            "id": "MONDO:0011894",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011894",
            "name": "CMT2E",
            "description": ""
        },
        {
            "id": "MONDO:0011894",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011894",
            "name": "Charcot-Marie-Tooth disease type 2 caused by mutation in NEFL",
            "description": ""
        },
        {
            "id": "MONDO:0011894",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011894",
            "name": "Charcot-Marie-Tooth disease, type 2E",
            "description": ""
        },
        {
            "id": "MONDO:0011894",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011894",
            "name": "NEFL Charcot-Marie-Tooth disease type 2",
            "description": ""
        },
        {
            "id": "MONDO:0011894",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011894",
            "name": "autosomal dominant Charcot-Marie-Tooth disease type 2E",
            "description": ""
        },
        {
            "id": "MONDO:0011894",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011894",
            "name": "CMT 2E",
            "description": ""
        },
        {
            "id": "MONDO:0011894",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011894",
            "name": "Charcot Marie Tooth disease type 2E",
            "description": ""
        },
        {
            "id": "MONDO:0011894",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011894",
            "name": "Charcot-Marie-Tooth disease, axonal, type 2E",
            "description": ""
        },
        {
            "id": "MIM:607684",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/607684",
            "name": "Charcot-Marie-Tooth disease, axonal, type 2E",
            "description": "Charcot-Marie-Tooth disease, axonal, type 2E"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110165"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110165",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110165",
            "categories": []
        },
        {
            "id": "MONDO:0011894",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011894",
            "categories": []
        },
        {
            "id": "MIM:607684",
            "database": "MIM",
            "url": "https://www.omim.org/entry/607684",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9PUK6-1",
            "uniprot_ac": "A0A8M9PUK6",
            "uniprot_id": "A0A8M9PUK6_DANRE",
            "refseq_ac": "XP_021324735",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Neurofilament light polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "neurofilament light polypeptide",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "nefla",
                    "type": "recommended"
                },
                {
                    "name": "nefla",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9PUK6-1",
            "evidence": [
                {
                    "id": "0110165",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110165"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P08551-1",
            "uniprot_ac": "P08551",
            "uniprot_id": "NFL_MOUSE",
            "refseq_ac": "NP_035040",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Neurofilament light polypeptide",
                    "type": "recommended"
                },
                {
                    "name": "68 kDa neurofilament protein",
                    "type": "synonym"
                },
                {
                    "name": "NF-L",
                    "type": "synonym"
                },
                {
                    "name": "Neurofilament triplet L protein",
                    "type": "synonym"
                },
                {
                    "name": "neurofilament light polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "neurofilament triplet L protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nefl",
                    "type": "recommended"
                },
                {
                    "name": "CMT2E",
                    "type": "synonym"
                },
                {
                    "name": "NF-L",
                    "type": "synonym"
                },
                {
                    "name": "NF68",
                    "type": "synonym"
                },
                {
                    "name": "Nefl",
                    "type": "synonym"
                },
                {
                    "name": "Nf68",
                    "type": "synonym"
                },
                {
                    "name": "Nfl",
                    "type": "synonym"
                }
            ],
            "record_id": "P08551-1",
            "evidence": [
                {
                    "id": "0110165",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110165"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P07196-1",
            "uniprot_ac": "P07196",
            "uniprot_id": "NFL_HUMAN",
            "refseq_ac": "NP_006149",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Neurofilament light polypeptide",
                    "type": "recommended"
                },
                {
                    "name": "68 kDa neurofilament protein",
                    "type": "synonym"
                },
                {
                    "name": "NF-L",
                    "type": "synonym"
                },
                {
                    "name": "Neurofilament triplet L protein",
                    "type": "synonym"
                },
                {
                    "name": "light molecular weight neurofilament protein",
                    "type": "synonym"
                },
                {
                    "name": "neurofilament light polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "neurofilament protein, light chain",
                    "type": "synonym"
                },
                {
                    "name": "neurofilament subunit NF-L",
                    "type": "synonym"
                },
                {
                    "name": "neurofilament triplet L protein",
                    "type": "synonym"
                },
                {
                    "name": "neurofilament, light polypeptide 68kDa",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase 1, regulatory subunit 110",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NEFL",
                    "type": "recommended"
                },
                {
                    "name": "CMT1F",
                    "type": "synonym"
                },
                {
                    "name": "CMT2E",
                    "type": "synonym"
                },
                {
                    "name": "CMTDIG",
                    "type": "synonym"
                },
                {
                    "name": "NEFL",
                    "type": "synonym"
                },
                {
                    "name": "NF-L",
                    "type": "synonym"
                },
                {
                    "name": "NF68",
                    "type": "synonym"
                },
                {
                    "name": "NFL",
                    "type": "synonym"
                },
                {
                    "name": "PPP1R110",
                    "type": "synonym"
                }
            ],
            "record_id": "P07196-1",
            "evidence": [
                {
                    "id": "607684",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/607684"
                },
                {
                    "id": "0110165",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110165"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P19527-1",
            "uniprot_ac": "P19527",
            "uniprot_id": "NFL_RAT",
            "refseq_ac": "NP_113971",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Neurofilament light polypeptide",
                    "type": "recommended"
                },
                {
                    "name": "68 kDa neurofilament protein",
                    "type": "synonym"
                },
                {
                    "name": "68kDa neurofilament",
                    "type": "synonym"
                },
                {
                    "name": "NF-L",
                    "type": "synonym"
                },
                {
                    "name": "Neurofilament triplet L protein",
                    "type": "synonym"
                },
                {
                    "name": "neurofilament light polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "neurofilament triplet L protein",
                    "type": "synonym"
                },
                {
                    "name": "neurofilament, light polypeptide",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nefl",
                    "type": "recommended"
                },
                {
                    "name": "NF-L",
                    "type": "synonym"
                },
                {
                    "name": "NF68",
                    "type": "synonym"
                },
                {
                    "name": "Nefl",
                    "type": "synonym"
                },
                {
                    "name": "Nf68",
                    "type": "synonym"
                },
                {
                    "name": "Nfl",
                    "type": "synonym"
                }
            ],
            "record_id": "P19527-1",
            "evidence": [
                {
                    "id": "0110165",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110165"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110165"
}