{
    "disease_id": "DOID:0050986",
    "recommended_name": {
        "id": "DOID:0050986",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050986",
        "name": "spinocerebellar ataxia 40",
        "description": "An autosomal dominant cerebellar ataxia that is characterized by progressive gait abnormalities, dysarthria, tremor and hyporeflexia, has_material_basis_in mutation in the CCDC88C gene."
    },
    "synonyms": [
        {
            "id": "MONDO:0014475",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014475",
            "name": "spinocerebellar ataxia type 40",
            "description": "Spinocerebellar ataxia type 40 (SCA40) is a very rare subtype of autosomal dominant cerebellar ataxia type 1, characterized by the adult-onset of unsteady gait and dysarthria, followed by wide-based gait, gait ataxia, ocular dysmetria, intention tremor, scanning speech, hyperreflexia and dysdiadochokinesis."
        },
        {
            "id": "MONDO:0014475",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014475",
            "name": "SCA40",
            "description": ""
        },
        {
            "id": "MONDO:0014475",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014475",
            "name": "spinocerebellar ataxia type 40",
            "description": ""
        },
        {
            "id": "MONDO:0014475",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014475",
            "name": "spinocerebellar ataxia 40",
            "description": ""
        },
        {
            "id": "MIM:616053",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616053",
            "name": "Spinocerebellar ataxia 40",
            "description": "Spinocerebellar ataxia 40"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050986"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050986",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050986",
            "categories": []
        },
        {
            "id": "MONDO:0014475",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014475",
            "categories": []
        },
        {
            "id": "MIM:616053",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616053",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A2R8QCI3-1",
            "uniprot_ac": "A0A2R8QCI3",
            "uniprot_id": "DAPLE_DANRE",
            "refseq_ac": "NP_001410799",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein Daple",
                    "type": "recommended"
                },
                {
                    "name": "Coiled-coil domain-containing protein 88C",
                    "type": "synonym"
                },
                {
                    "name": "DVL-binding protein DAPLE",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain containing 88C",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain-containing protein 88C",
                    "type": "synonym"
                },
                {
                    "name": "protein Daple",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ccdc88c",
                    "type": "recommended"
                },
                {
                    "name": "ccdc88c",
                    "type": "synonym"
                },
                {
                    "name": "zDAPLE",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A2R8QCI3-1",
            "evidence": [
                {
                    "id": "0050986",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050986"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6VGS5-1",
            "uniprot_ac": "Q6VGS5",
            "uniprot_id": "DAPLE_MOUSE",
            "refseq_ac": "NP_080957",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein Daple",
                    "type": "recommended"
                },
                {
                    "name": "Coiled-coil domain-containing protein 88C",
                    "type": "synonym"
                },
                {
                    "name": "DVL-binding protein DAPLE",
                    "type": "synonym"
                },
                {
                    "name": "Dvl-associating protein with a high frequency of leucine residues",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain-containing protein 88C",
                    "type": "synonym"
                },
                {
                    "name": "dvl-associating protein with a high frequency of leucine residues",
                    "type": "synonym"
                },
                {
                    "name": "protein Daple isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "protein Daple",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ccdc88c",
                    "type": "recommended"
                },
                {
                    "name": "0610010D24Rik",
                    "type": "synonym"
                },
                {
                    "name": "Ccdc88c",
                    "type": "synonym"
                },
                {
                    "name": "Daple",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA1509",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6VGS5-1",
            "evidence": [
                {
                    "id": "0050986",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050986"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9P219-1",
            "uniprot_ac": "Q9P219",
            "uniprot_id": "DAPLE_HUMAN",
            "refseq_ac": "NP_001073883",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein Daple",
                    "type": "recommended"
                },
                {
                    "name": "Coiled-coil domain-containing protein 88C",
                    "type": "synonym"
                },
                {
                    "name": "Dvl-associating protein with a high frequency of leucine residues",
                    "type": "synonym"
                },
                {
                    "name": "HkRP2",
                    "type": "synonym"
                },
                {
                    "name": "Hook-related protein 2",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain containing 88C",
                    "type": "synonym"
                },
                {
                    "name": "hDaple",
                    "type": "synonym"
                },
                {
                    "name": "hook-related protein 2",
                    "type": "synonym"
                },
                {
                    "name": "protein Daple",
                    "type": "synonym"
                },
                {
                    "name": "spinocerebellar ataxia 40",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CCDC88C",
                    "type": "recommended"
                },
                {
                    "name": "CCDC88C",
                    "type": "synonym"
                },
                {
                    "name": "DAPLE",
                    "type": "synonym"
                },
                {
                    "name": "HKRP2",
                    "type": "synonym"
                },
                {
                    "name": "HYC1",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1509",
                    "type": "synonym"
                },
                {
                    "name": "SCA40",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9P219-1",
            "evidence": [
                {
                    "id": "616053",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616053"
                },
                {
                    "id": "0050986",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050986"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I5ZTX2-1",
            "uniprot_ac": "A0A8I5ZTX2",
            "uniprot_id": "A0A8I5ZTX2_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Coiled-coil domain containing 88C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ccdc88c",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A8I5ZTX2-1",
            "evidence": [
                {
                    "id": "0050986",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050986"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VZT7-1",
            "uniprot_ac": "Q9VZT7",
            "uniprot_id": "Q9VZT7_DROME",
            "refseq_ac": "NP_647780",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG12734-PA",
                    "type": "synonym"
                },
                {
                    "name": "Girdin, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Girdin-PA",
                    "type": "synonym"
                },
                {
                    "name": "dGirdin",
                    "type": "synonym"
                },
                {
                    "name": "girdin, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "mechanosensory A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Girdin",
                    "type": "recommended"
                },
                {
                    "name": "CG12734",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG12734",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG12734",
                    "type": "synonym"
                },
                {
                    "name": "Girdin",
                    "type": "synonym"
                },
                {
                    "name": "girdin",
                    "type": "synonym"
                },
                {
                    "name": "mecA",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VZT7-1",
            "evidence": [
                {
                    "id": "0050986",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050986"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050986"
}