{
    "disease_id": "DOID:0111616",
    "recommended_name": {
        "id": "DOID:0111616",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111616",
        "name": "autosomal recessive spinocerebellar ataxia 27",
        "description": "An autosomal recessive cerebellar ataxia characterized by adult onset of progressive gait difficulties and other cerebellar signs that has_material_basis_in homozygous or compound heterozygous mutation in the GDAP2 gene on chromosome 1p12."
    },
    "synonyms": [
        {
            "id": "DOID:0111616",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111616",
            "name": "SCAR27",
            "description": ""
        },
        {
            "id": "MONDO:0032706",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032706",
            "name": "spinocerebellar ataxia, autosomal recessive 27",
            "description": ""
        },
        {
            "id": "MONDO:0032706",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032706",
            "name": "SCAR27",
            "description": ""
        },
        {
            "id": "MIM:618369",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618369",
            "name": "Spinocerebellar ataxia, autosomal recessive, 27",
            "description": "Spinocerebellar ataxia, autosomal recessive, 27"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111616"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111616",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111616",
            "categories": []
        },
        {
            "id": "MONDO:0032706",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032706",
            "categories": []
        },
        {
            "id": "MIM:618369",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618369",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q66HX8-1",
            "uniprot_ac": "Q66HX8",
            "uniprot_id": "GDAP2_DANRE",
            "refseq_ac": "NP_001004563",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ganglioside-induced differentiation-associated protein 2",
                    "type": "recommended"
                },
                {
                    "name": "ganglioside-induced differentiation-associated protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "gdap2",
                    "type": "recommended"
                },
                {
                    "name": "fc38e07",
                    "type": "synonym"
                },
                {
                    "name": "gdap2",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc38e07",
                    "type": "synonym"
                },
                {
                    "name": "zgc:92235",
                    "type": "synonym"
                }
            ],
            "record_id": "Q66HX8-1",
            "evidence": [
                {
                    "id": "0111616",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111616"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9DBL2-1",
            "uniprot_ac": "Q9DBL2",
            "uniprot_id": "GDAP2_MOUSE",
            "refseq_ac": "NP_034399",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ganglioside-induced differentiation-associated protein 2",
                    "type": "recommended"
                },
                {
                    "name": "ganglioside-induced differentiation-associated protein 2 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gdap2",
                    "type": "recommended"
                },
                {
                    "name": "D3Ertd801e",
                    "type": "synonym"
                },
                {
                    "name": "Gdap2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9DBL2-1",
            "evidence": [
                {
                    "id": "0111616",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111616"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NXN4-1",
            "uniprot_ac": "Q9NXN4",
            "uniprot_id": "GDAP2_HUMAN",
            "refseq_ac": "NP_001129061",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ganglioside-induced differentiation-associated protein 2",
                    "type": "recommended"
                },
                {
                    "name": "ganglioside-induced differentiation-associated protein 2 isoform b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GDAP2",
                    "type": "recommended"
                },
                {
                    "name": "GDAP2",
                    "type": "synonym"
                },
                {
                    "name": "MACROD3",
                    "type": "synonym"
                },
                {
                    "name": "SCAR27",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NXN4-1",
            "evidence": [
                {
                    "id": "618369",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618369"
                },
                {
                    "id": "0111616",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111616"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q66H63-1",
            "uniprot_ac": "Q66H63",
            "uniprot_id": "GDAP2_RAT",
            "refseq_ac": "NP_001013219",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ganglioside-induced differentiation-associated-protein 2",
                    "type": "recommended"
                },
                {
                    "name": "ganglioside-induced differentiation-associated-protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gdap2",
                    "type": "recommended"
                },
                {
                    "name": "Gdap2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q66H63-1",
            "evidence": [
                {
                    "id": "0111616",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111616"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7JUR6-1",
            "uniprot_ac": "Q7JUR6",
            "uniprot_id": "GDAP2_DROME",
            "refseq_ac": "NP_724597",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein GDAP2 homolog",
                    "type": "recommended"
                },
                {
                    "name": "CG18812-PC",
                    "type": "synonym"
                },
                {
                    "name": "Gdap2, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "Gdap2-PC",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gdap2",
                    "type": "recommended"
                },
                {
                    "name": "CG12040",
                    "type": "synonym"
                },
                {
                    "name": "CG18812",
                    "type": "synonym"
                },
                {
                    "name": "CG18813",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG18812",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG18812",
                    "type": "synonym"
                },
                {
                    "name": "Gdap2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7JUR6-1",
            "evidence": [
                {
                    "id": "0111616",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111616"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111616"
}