{
    "disease_id": "DOID:0090104",
    "recommended_name": {
        "id": "DOID:0090104",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0090104",
        "name": "Huntington's disease-like 2",
        "description": "A neurodegenerative disease characterized by involuntary movements and abnormalities of voluntary movements, psychiatric symptoms, weight loss, and dementia with onset in the fourth decade and death about 20 years after disease onset, and has_material_basis_in autosomal dominant inheritance of heterozygous expansion of a CAG/CTG repeat in the junctophilin-3 gene (JPH3) on chromosome 16q24."
    },
    "synonyms": [
        {
            "id": "DOID:0090104",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090104",
            "name": "HDL2",
            "description": ""
        },
        {
            "id": "DOID:0090104",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090104",
            "name": "Huntington disease-like 2",
            "description": ""
        },
        {
            "id": "MONDO:0011671",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011671",
            "name": "Huntington disease-like 2",
            "description": "Huntington disease-like 2 (HDL2) is a severe neurodegenerative disorder considered part of the neuroacanthocytosis syndromes characterized by a triad of movement, psychiatric, and cognitive abnormalities."
        },
        {
            "id": "MONDO:0011671",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011671",
            "name": "HDL2",
            "description": ""
        },
        {
            "id": "MONDO:0011671",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011671",
            "name": "Huntington disease-like 2",
            "description": ""
        },
        {
            "id": "MONDO:0011671",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011671",
            "name": "Huntington disease-like type 2",
            "description": ""
        },
        {
            "id": "MIM:606438",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/606438",
            "name": "Huntington disease-like 2",
            "description": "Huntington disease-like 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0090104"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0090104",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090104",
            "categories": []
        },
        {
            "id": "MONDO:0011671",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011671",
            "categories": []
        },
        {
            "id": "MIM:606438",
            "database": "MIM",
            "url": "https://www.omim.org/entry/606438",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E7F2R3-1",
            "uniprot_ac": "E7F2R3",
            "uniprot_id": "E7F2R3_DANRE",
            "refseq_ac": "XP_693582",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Junctophilin-3 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "junctophilin-3 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "jph3a",
                    "type": "recommended"
                },
                {
                    "name": "jph3a",
                    "type": "synonym"
                }
            ],
            "record_id": "E7F2R3-1",
            "evidence": [
                {
                    "id": "0090104",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090104"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0R4IT36-1",
            "uniprot_ac": "A0A0R4IT36",
            "uniprot_id": "A0A0R4IT36_DANRE",
            "refseq_ac": "NP_001116174",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Junctophilin",
                    "type": "recommended"
                },
                {
                    "name": "junctophilin 3",
                    "type": "synonym"
                },
                {
                    "name": "junctophilin-3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "jph3b",
                    "type": "recommended"
                },
                {
                    "name": "fc26e06",
                    "type": "synonym"
                },
                {
                    "name": "jph3b",
                    "type": "synonym"
                },
                {
                    "name": "jph3",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-255l14.9",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc26e06",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0R4IT36-1",
            "evidence": [
                {
                    "id": "0090104",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090104"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9ET77-1",
            "uniprot_ac": "Q9ET77",
            "uniprot_id": "JPH3_MOUSE",
            "refseq_ac": "NP_065630",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Junctophilin-3",
                    "type": "recommended"
                },
                {
                    "name": "JP-3",
                    "type": "synonym"
                },
                {
                    "name": "Junctophilin type 3",
                    "type": "synonym"
                },
                {
                    "name": "junctophilin type 3",
                    "type": "synonym"
                },
                {
                    "name": "junctophilin-3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Jph3",
                    "type": "recommended"
                },
                {
                    "name": "JP-3",
                    "type": "synonym"
                },
                {
                    "name": "Jp3",
                    "type": "synonym"
                },
                {
                    "name": "Jph3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9ET77-1",
            "evidence": [
                {
                    "id": "0090104",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090104"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8WXH2-1",
            "uniprot_ac": "Q8WXH2",
            "uniprot_id": "JPH3_HUMAN",
            "refseq_ac": "NP_065706",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Junctophilin-3",
                    "type": "recommended"
                },
                {
                    "name": "JP-3",
                    "type": "synonym"
                },
                {
                    "name": "Junctophilin type 3",
                    "type": "synonym"
                },
                {
                    "name": "Trinucleotide repeat-containing gene 22 protein",
                    "type": "synonym"
                },
                {
                    "name": "junctophilin type 3",
                    "type": "synonym"
                },
                {
                    "name": "junctophilin-3 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "trinucleotide repeat containing 22",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "JPH3",
                    "type": "recommended"
                },
                {
                    "name": "CAGL237",
                    "type": "synonym"
                },
                {
                    "name": "HDL2",
                    "type": "synonym"
                },
                {
                    "name": "JP-3",
                    "type": "synonym"
                },
                {
                    "name": "JP3",
                    "type": "synonym"
                },
                {
                    "name": "JPH3",
                    "type": "synonym"
                },
                {
                    "name": "TNRC22",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8WXH2-1",
            "evidence": [
                {
                    "id": "606438",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/606438"
                },
                {
                    "id": "0090104",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090104"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZWH2-1",
            "uniprot_ac": "D3ZWH2",
            "uniprot_id": "D3ZWH2_RAT",
            "refseq_ac": "NP_001100907",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Junctophilin",
                    "type": "recommended"
                },
                {
                    "name": "junctophilin-3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Jph3",
                    "type": "recommended"
                },
                {
                    "name": "Jph3",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZWH2-1",
            "evidence": [
                {
                    "id": "0090104",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090104"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0090104"
}