{
    "disease_id": "DOID:0110149",
    "recommended_name": {
        "id": "DOID:0110149",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110149",
        "name": "Charcot-Marie-Tooth disease type 1F",
        "description": "A Charcot-Marie-Tooth disease type 1 that has_material_basis_in mutation in the NEFL gene."
    },
    "synonyms": [
        {
            "id": "DOID:0110149",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110149",
            "name": "CMT1F",
            "description": ""
        },
        {
            "id": "DOID:0110149",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110149",
            "name": "Charcot-Marie-Tooth neuropathy type 1F",
            "description": ""
        },
        {
            "id": "MONDO:0011902",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011902",
            "name": "Charcot-Marie-Tooth disease type 1F",
            "description": "A form of CMT1, with a variable clinical presentation that can range from severe impairment with onset in childhood to mild impairment appearing during adulthood. CMT1F is characterized by a progressive peripheral motor and sensory neuropathy with distal paresis in the lower limbs that varies from mild weakness to complete paralysis of the distal muscle groups, absent tendon reflexes and reduced nerve conduction. CMT1F represents the ''demyelinating'' form of CMT2E and is caused by mutations in the NEFL gene (8p21.2).."
        },
        {
            "id": "MONDO:0011902",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011902",
            "name": "CMT1F",
            "description": ""
        },
        {
            "id": "MONDO:0011902",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011902",
            "name": "Charcot-Marie-Tooth disease type 1 caused by mutation in NEFL",
            "description": ""
        },
        {
            "id": "MONDO:0011902",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011902",
            "name": "Charcot-Marie-Tooth disease, type 1F",
            "description": ""
        },
        {
            "id": "MONDO:0011902",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011902",
            "name": "NEFL Charcot-Marie-Tooth disease type 1",
            "description": ""
        },
        {
            "id": "MONDO:0011902",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011902",
            "name": "CMT 1F",
            "description": ""
        },
        {
            "id": "MONDO:0011902",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011902",
            "name": "Charcot Marie Tooth disease type 1F",
            "description": ""
        },
        {
            "id": "MONDO:0011902",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011902",
            "name": "Charcot-Marie-Tooth disease, demyelinating, type 1F",
            "description": ""
        },
        {
            "id": "MIM:607734",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/607734",
            "name": "Charcot-Marie-Tooth disease, demyelinating, type 1F",
            "description": "Charcot-Marie-Tooth disease, demyelinating, type 1F"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110149"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110149",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110149",
            "categories": []
        },
        {
            "id": "MONDO:0011902",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011902",
            "categories": []
        },
        {
            "id": "MIM:607734",
            "database": "MIM",
            "url": "https://www.omim.org/entry/607734",
            "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": "0110149",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110149"
                }
            ]
        },
        {
            "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": "0110149",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110149"
                }
            ]
        },
        {
            "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": "607734",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/607734"
                },
                {
                    "id": "0110149",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110149"
                }
            ]
        },
        {
            "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": "0110149",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110149"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110149"
}