{
    "disease_id": "DOID:0060998",
    "recommended_name": {
        "id": "DOID:0060998",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060998",
        "name": "striatal degeneration 2",
        "description": "A multiple system atrophy characterized by hyperkinetic movements, mainly chorea, resulting from dysfunction of the basal ganglia that has_material_basis_in heterozygous mutation in the PDE10A gene on chromosome 6q27."
    },
    "synonyms": [
        {
            "id": "MONDO:0014835",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014835",
            "name": "striatal degeneration, autosomal dominant 2",
            "description": "Any striatal degeneration, autosomal dominant in which the cause of the disease is a mutation in the PDE10A gene."
        },
        {
            "id": "MONDO:0014835",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014835",
            "name": "striatal degeneration, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0014835",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014835",
            "name": "ADSD2",
            "description": ""
        },
        {
            "id": "MONDO:0014835",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014835",
            "name": "PDE10A striatal degeneration, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0014835",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014835",
            "name": "striatal Degeneration, autosomal dominant 2",
            "description": ""
        },
        {
            "id": "MONDO:0014835",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014835",
            "name": "striatal Degeneration, autosomal dominant type 2",
            "description": ""
        },
        {
            "id": "MONDO:0014835",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014835",
            "name": "striatal degeneration, autosomal dominant 2; ADSD2",
            "description": ""
        },
        {
            "id": "MONDO:0014835",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014835",
            "name": "striatal degeneration, autosomal dominant caused by mutation in PDE10A",
            "description": ""
        },
        {
            "id": "MIM:616922",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616922",
            "name": "Striatal degeneration, autosomal dominant 2",
            "description": "Striatal degeneration, autosomal dominant 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060998"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060998",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060998",
            "categories": []
        },
        {
            "id": "MONDO:0014835",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014835",
            "categories": []
        },
        {
            "id": "MIM:616922",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616922",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A0R4IJT4-1",
            "uniprot_ac": "A0A0R4IJT4",
            "uniprot_id": "A0A0R4IJT4_DANRE",
            "refseq_ac": "NP_957396",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphodiesterase",
                    "type": "recommended"
                },
                {
                    "name": "3.1.4.-",
                    "type": "synonym"
                },
                {
                    "name": "cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "pde10a",
                    "type": "recommended"
                },
                {
                    "name": "pde10a",
                    "type": "synonym"
                },
                {
                    "name": "zgc:56689",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0R4IJT4-1",
            "evidence": [
                {
                    "id": "0060998",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060998"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8CA95-1",
            "uniprot_ac": "Q8CA95",
            "uniprot_id": "PDE10_MOUSE",
            "refseq_ac": "NP_001277636",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A",
                    "type": "recommended"
                },
                {
                    "name": "3.1.4.17",
                    "type": "synonym"
                },
                {
                    "name": "cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A",
                    "type": "synonym"
                },
                {
                    "name": "dual-substrate cAMP and cGMP, cyclic nucleotide phosphodiesterase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pde10a",
                    "type": "recommended"
                },
                {
                    "name": "Pde10a",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8CA95-1",
            "evidence": [
                {
                    "id": "0060998",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060998"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y233-3",
            "uniprot_ac": "Q9Y233",
            "uniprot_id": "PDE10_HUMAN",
            "refseq_ac": "NP_001124162",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A",
                    "type": "recommended"
                },
                {
                    "name": "3',5' cAMP/cGMP phosphodiesterase",
                    "type": "synonym"
                },
                {
                    "name": "3.1.4.17",
                    "type": "synonym"
                },
                {
                    "name": "cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A",
                    "type": "synonym"
                },
                {
                    "name": "dJ416F21.1 (phosphodiesterase 10A)",
                    "type": "synonym"
                },
                {
                    "name": "phosphodiesterase 10A1 (PDE10A1)",
                    "type": "synonym"
                },
                {
                    "name": "phosphodiesterase 10A7 (PDE10A7)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PDE10A",
                    "type": "recommended"
                },
                {
                    "name": "ADSD2",
                    "type": "synonym"
                },
                {
                    "name": "HSPDE10A",
                    "type": "synonym"
                },
                {
                    "name": "IOLOD",
                    "type": "synonym"
                },
                {
                    "name": "PDE10A19",
                    "type": "synonym"
                },
                {
                    "name": "PDE10A",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y233-3",
            "evidence": [
                {
                    "id": "616922",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616922"
                },
                {
                    "id": "0060998",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060998"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9QYJ6-1",
            "uniprot_ac": "Q9QYJ6",
            "uniprot_id": "PDE10_RAT",
            "refseq_ac": "NP_071572",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A",
                    "type": "recommended"
                },
                {
                    "name": "3.1.4.17",
                    "type": "synonym"
                },
                {
                    "name": "cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A",
                    "type": "synonym"
                },
                {
                    "name": "testis-specific phosphodiesterase PDE10A2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pde10a",
                    "type": "recommended"
                },
                {
                    "name": "Pde10a3",
                    "type": "synonym"
                },
                {
                    "name": "Pde10a",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9QYJ6-1",
            "evidence": [
                {
                    "id": "0060998",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060998"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060998"
}