{
    "disease_id": "DOID:0050971",
    "recommended_name": {
        "id": "DOID:0050971",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050971",
        "name": "spinocerebellar ataxia 20",
        "description": "An autosomal dominant cerebellar ataxia that is characterized by cerebellar dysarthria."
    },
    "synonyms": [
        {
            "id": "MONDO:0012098",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012098",
            "name": "spinocerebellar ataxia type 20",
            "description": "Spinocerebellar ataxia type 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by cerebellar dysarthria as the initial typical manifestation."
        },
        {
            "id": "MONDO:0012098",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012098",
            "name": "SCA20",
            "description": ""
        },
        {
            "id": "MONDO:0012098",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012098",
            "name": "spinocerebellar ataxia type 20",
            "description": ""
        },
        {
            "id": "MONDO:0012098",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012098",
            "name": "spinocerebellar ataxia 20",
            "description": ""
        },
        {
            "id": "MIM:608687",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/608687",
            "name": "Spinocerebellar ataxia 20",
            "description": "Spinocerebellar ataxia 20"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050971"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050971",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050971",
            "categories": []
        },
        {
            "id": "MONDO:0012098",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012098",
            "categories": []
        },
        {
            "id": "MIM:608687",
            "database": "MIM",
            "url": "https://www.omim.org/entry/608687",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9Y4D2-1",
            "uniprot_ac": "Q9Y4D2",
            "uniprot_id": "DGLA_HUMAN",
            "refseq_ac": "NP_006124",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Diacylglycerol lipase-alpha",
                    "type": "recommended"
                },
                {
                    "name": "3.1.1.116",
                    "type": "synonym"
                },
                {
                    "name": "DAGL-alpha",
                    "type": "synonym"
                },
                {
                    "name": "DGL-alpha",
                    "type": "synonym"
                },
                {
                    "name": "Neural stem cell-derived dendrite regulator",
                    "type": "synonym"
                },
                {
                    "name": "Sn1-specific diacylglycerol lipase alpha",
                    "type": "synonym"
                },
                {
                    "name": "diacylglycerol lipase-alpha",
                    "type": "synonym"
                },
                {
                    "name": "neural stem cell-derived dendrite regulator",
                    "type": "synonym"
                },
                {
                    "name": "sn1-specific diacylglycerol lipase alpha",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DAGLA",
                    "type": "recommended"
                },
                {
                    "name": "C11orf11",
                    "type": "synonym"
                },
                {
                    "name": "DAGL(ALPHA)",
                    "type": "synonym"
                },
                {
                    "name": "DAGLALPHA",
                    "type": "synonym"
                },
                {
                    "name": "DAGLA",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0659",
                    "type": "synonym"
                },
                {
                    "name": "NOC2",
                    "type": "synonym"
                },
                {
                    "name": "NSDDR",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y4D2-1",
            "evidence": [
                {
                    "id": "608687",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/608687"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050971"
}