{
    "disease_id": "DOID:0090103",
    "recommended_name": {
        "id": "DOID:0090103",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0090103",
        "name": "Huntington's disease-like 1",
        "description": "A prion disease that is characterized by a phenocopy of Huntington disease (unwanted choreatic movements, behavioral and psychiatric disturbances and dementia) that has_material_basis_in autosomal dominant inheritance of 8 extra octapeptide repeats in the prion protein (PRNP) gene on chromosome 20p13."
    },
    "synonyms": [
        {
            "id": "DOID:0090103",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090103",
            "name": "HDL1",
            "description": ""
        },
        {
            "id": "DOID:0090103",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090103",
            "name": "HLN1",
            "description": ""
        },
        {
            "id": "DOID:0090103",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090103",
            "name": "Huntington disease-like 1",
            "description": ""
        },
        {
            "id": "DOID:0090103",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090103",
            "name": "Huntington-like neurodegenerative disorder 1",
            "description": ""
        },
        {
            "id": "DOID:0090103",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090103",
            "name": "autosomal dominant Huntington-like neurodegenerative disorder",
            "description": ""
        },
        {
            "id": "DOID:0090103",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090103",
            "name": "early-onset prion disease with prominent psychiatric features",
            "description": ""
        },
        {
            "id": "MONDO:0011299",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011299",
            "name": "Huntington disease-like 1",
            "description": "Any neurodegenerative disease with chorea in which the cause of the disease is a mutation in the PRNP gene."
        },
        {
            "id": "MONDO:0011299",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011299",
            "name": "HDL1",
            "description": ""
        },
        {
            "id": "MONDO:0011299",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011299",
            "name": "HLN1",
            "description": ""
        },
        {
            "id": "MONDO:0011299",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011299",
            "name": "Huntington disease-like 1",
            "description": ""
        },
        {
            "id": "MONDO:0011299",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011299",
            "name": "Huntington disease-like type 1",
            "description": ""
        },
        {
            "id": "MONDO:0011299",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011299",
            "name": "Huntington-like neurodegenerative disorder 1",
            "description": ""
        },
        {
            "id": "MONDO:0011299",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011299",
            "name": "PRNP neurodegenerative disease with chorea",
            "description": ""
        },
        {
            "id": "MONDO:0011299",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011299",
            "name": "early-onset prion disease with prominent psychiatric features",
            "description": ""
        },
        {
            "id": "MONDO:0011299",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011299",
            "name": "neurodegenerative disease with chorea caused by mutation in PRNP",
            "description": ""
        },
        {
            "id": "MIM:603218",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/603218",
            "name": "Huntington disease-like 1",
            "description": "Huntington disease-like 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0090103"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0090103",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090103",
            "categories": []
        },
        {
            "id": "MONDO:0011299",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011299",
            "categories": []
        },
        {
            "id": "MIM:603218",
            "database": "MIM",
            "url": "https://www.omim.org/entry/603218",
            "categories": []
        }
    ],
    "proteins": [
        {
            "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": "0090103",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090103"
                }
            ]
        },
        {
            "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": "603218",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/603218"
                },
                {
                    "id": "0090103",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090103"
                }
            ]
        },
        {
            "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": "0090103",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090103"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0090103"
}