{
    "disease_id": "DOID:0050433",
    "recommended_name": {
        "id": "DOID:0050433",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050433",
        "name": "fatal familial insomnia",
        "description": "A prion disease that is characterized by insomnia, hallucinations, dementia and death, located_in the brain."
    },
    "synonyms": [
        {
            "id": "MONDO:0010808",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010808",
            "name": "fatal familial insomnia",
            "description": "Fatal familial insomnia (FFI) is a very rare form of prion disease characterized by subacute onset of insomnia showing as a reduced overall sleep time, autonomic dysfunction, and motor disturbances."
        },
        {
            "id": "MONDO:0010808",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010808",
            "name": "fatal familial insomnia",
            "description": ""
        },
        {
            "id": "MONDO:0010808",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010808",
            "name": "FFI",
            "description": ""
        },
        {
            "id": "MONDO:0010808",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010808",
            "name": "Insomnia familial fatal",
            "description": ""
        },
        {
            "id": "MONDO:0010808",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010808",
            "name": "familial fatal insomnia",
            "description": ""
        },
        {
            "id": "MIM:600072",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/600072",
            "name": "Fatal familial insomnia",
            "description": "Fatal familial insomnia"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050433"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050433",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050433",
            "categories": []
        },
        {
            "id": "MONDO:0010808",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010808",
            "categories": []
        },
        {
            "id": "MIM:600072",
            "database": "MIM",
            "url": "https://www.omim.org/entry/600072",
            "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": "0050433",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050433"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P04925-1",
            "uniprot_ac": "P04925",
            "uniprot_id": "PRIO_MOUSE",
            "refseq_ac": "NP_001265185",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Major prion protein",
                    "type": "recommended"
                },
                {
                    "name": "PrP27-30",
                    "type": "synonym"
                },
                {
                    "name": "PrP33-35C",
                    "type": "synonym"
                },
                {
                    "name": "PrP",
                    "type": "synonym"
                },
                {
                    "name": "major prion protein precursor",
                    "type": "synonym"
                },
                {
                    "name": "major prion protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Prnp",
                    "type": "recommended"
                },
                {
                    "name": "CD230",
                    "type": "synonym"
                },
                {
                    "name": "PrP<C>",
                    "type": "synonym"
                },
                {
                    "name": "PrPC",
                    "type": "synonym"
                },
                {
                    "name": "PrPSc",
                    "type": "synonym"
                },
                {
                    "name": "PrP",
                    "type": "synonym"
                },
                {
                    "name": "Prn-i",
                    "type": "synonym"
                },
                {
                    "name": "Prn-p",
                    "type": "synonym"
                },
                {
                    "name": "Prnp",
                    "type": "synonym"
                },
                {
                    "name": "Prp",
                    "type": "synonym"
                },
                {
                    "name": "Sinc",
                    "type": "synonym"
                },
                {
                    "name": "prP27-30",
                    "type": "synonym"
                },
                {
                    "name": "prP33-35C",
                    "type": "synonym"
                }
            ],
            "record_id": "P04925-1",
            "evidence": [
                {
                    "id": "0050433",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050433"
                }
            ]
        },
        {
            "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": "0050433",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050433"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P04156-1",
            "uniprot_ac": "P04156",
            "uniprot_id": "PRIO_HUMAN",
            "refseq_ac": "NP_001258490",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Major prion protein",
                    "type": "recommended"
                },
                {
                    "name": "ASCR",
                    "type": "synonym"
                },
                {
                    "name": "CD230 antigen",
                    "type": "synonym"
                },
                {
                    "name": "PrP27-30",
                    "type": "synonym"
                },
                {
                    "name": "PrP33-35C",
                    "type": "synonym"
                },
                {
                    "name": "PrP",
                    "type": "synonym"
                },
                {
                    "name": "alternative prion protein AltPrp isoform",
                    "type": "synonym"
                },
                {
                    "name": "alternative prion protein",
                    "type": "synonym"
                },
                {
                    "name": "major prion protein",
                    "type": "synonym"
                },
                {
                    "name": "prion-related protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PRNP",
                    "type": "recommended"
                },
                {
                    "name": "ALTPRP",
                    "type": "synonym"
                },
                {
                    "name": "ASCR",
                    "type": "synonym"
                },
                {
                    "name": "AltPrP",
                    "type": "synonym"
                },
                {
                    "name": "CD230",
                    "type": "synonym"
                },
                {
                    "name": "CJD",
                    "type": "synonym"
                },
                {
                    "name": "GSS",
                    "type": "synonym"
                },
                {
                    "name": "KURU",
                    "type": "synonym"
                },
                {
                    "name": "PRIP",
                    "type": "synonym"
                },
                {
                    "name": "PRNP",
                    "type": "synonym"
                },
                {
                    "name": "PRP",
                    "type": "synonym"
                },
                {
                    "name": "PrP27-30",
                    "type": "synonym"
                },
                {
                    "name": "PrP33-35C",
                    "type": "synonym"
                },
                {
                    "name": "PrPc",
                    "type": "synonym"
                },
                {
                    "name": "PrP",
                    "type": "synonym"
                },
                {
                    "name": "p27-30",
                    "type": "synonym"
                }
            ],
            "record_id": "P04156-1",
            "evidence": [
                {
                    "id": "600072",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/600072"
                },
                {
                    "id": "0050433",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050433"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P13852-1",
            "uniprot_ac": "P13852",
            "uniprot_id": "PRIO_RAT",
            "refseq_ac": "NP_036763",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Major prion protein",
                    "type": "recommended"
                },
                {
                    "name": "PrP",
                    "type": "synonym"
                },
                {
                    "name": "major prion protein precursor",
                    "type": "synonym"
                },
                {
                    "name": "major prion protein",
                    "type": "synonym"
                },
                {
                    "name": "prion protein, PrP",
                    "type": "synonym"
                },
                {
                    "name": "prion protein, structural",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Prnp",
                    "type": "recommended"
                },
                {
                    "name": "PrP",
                    "type": "synonym"
                },
                {
                    "name": "Prnp",
                    "type": "synonym"
                },
                {
                    "name": "Prn",
                    "type": "synonym"
                },
                {
                    "name": "Prp",
                    "type": "synonym"
                }
            ],
            "record_id": "P13852-1",
            "evidence": [
                {
                    "id": "0050433",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050433"
                }
            ]
        },
        {
            "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": "0050433",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050433"
                }
            ]
        },
        {
            "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": "0050433",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050433"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050433"
}