{
    "disease_id": "DOID:0111743",
    "recommended_name": {
        "id": "DOID:0111743",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111743",
        "name": "cerebellar ataxia type 47",
        "description": "An autosomal dominant cerebellar ataxia characterized by adult onset of slowly progressive cerebellar ataxia or in some cases earlier onset of ataxia accompanied by delayed motor development and short stature that has_material_basis_in heterozygous mutation in the PUM1 gene on chromosome 1p35.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111743",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111743",
            "name": "SCA47",
            "description": ""
        },
        {
            "id": "DOID:0111743",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111743",
            "name": "PUM1-associated developmental disability-ataxia-seizure syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0033482",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033482",
            "name": "spinocerebellar ataxia 47",
            "description": "A rare hereditary ataxia characterized by adult onset of slowly progressive cerebellar degeneration with gait ataxia, dysmetria, dysarthria, and in some cases diplopia. Cognitive functions are normal, and seizures are absent. Magnetic resonance imaging reveals mild atrophy of the cerebellar vermis."
        },
        {
            "id": "MONDO:0033482",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033482",
            "name": "PUM1-related cerebellar ataxia",
            "description": ""
        },
        {
            "id": "MONDO:0033482",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033482",
            "name": "spinocerebellar ataxia 47",
            "description": ""
        },
        {
            "id": "MONDO:0033482",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033482",
            "name": "SCA47",
            "description": ""
        },
        {
            "id": "MONDO:0958231",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0958231",
            "name": "neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism",
            "description": "Any neurodevelopmental disorder characterized by global developmental delay, impaired intellectual development, poor overall growth, severely impaired motor development, and dysmorphic facial features due to a variation in the PUM1 gene."
        },
        {
            "id": "MONDO:0958231",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0958231",
            "name": "PUM1-associated developmental disability-ataxia-seizure syndrome",
            "description": ""
        },
        {
            "id": "MIM:620719",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620719",
            "name": "Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism",
            "description": "Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111743"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111743",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111743",
            "categories": []
        },
        {
            "id": "MONDO:0033482",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033482",
            "categories": []
        },
        {
            "id": "MONDO:0958231",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0958231",
            "categories": []
        },
        {
            "id": "MIM:620719",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620719",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A0R4IWL6-1",
            "uniprot_ac": "A0A0R4IWL6",
            "uniprot_id": "A0A0R4IWL6_DANRE",
            "refseq_ac": "NP_001264048",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pumilio homolog 1",
                    "type": "recommended"
                },
                {
                    "name": "pumilio homolog 1 pseudogene",
                    "type": "synonym"
                },
                {
                    "name": "pumilio homolog 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "pum1",
                    "type": "recommended"
                },
                {
                    "name": "fb96a03",
                    "type": "synonym"
                },
                {
                    "name": "pum1",
                    "type": "synonym"
                },
                {
                    "name": "pumilio1",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-285e16.1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb96a03",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb96a08",
                    "type": "synonym"
                },
                {
                    "name": "zgc:63671",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0R4IWL6-1",
            "evidence": [
                {
                    "id": "0111743",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111743"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q80U78-1",
            "uniprot_ac": "Q80U78",
            "uniprot_id": "PUM1_MOUSE",
            "refseq_ac": "NP_001153075",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pumilio homolog 1",
                    "type": "recommended"
                },
                {
                    "name": "pumilio 1",
                    "type": "synonym"
                },
                {
                    "name": "pumilio homolog 1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "pumilio homolog 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pum1",
                    "type": "recommended"
                },
                {
                    "name": "Kiaa0099",
                    "type": "synonym"
                },
                {
                    "name": "Pum1",
                    "type": "synonym"
                },
                {
                    "name": "Pumm",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA0099",
                    "type": "synonym"
                }
            ],
            "record_id": "Q80U78-1",
            "evidence": [
                {
                    "id": "0111743",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111743"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q14671-1",
            "uniprot_ac": "Q14671",
            "uniprot_id": "PUM1_HUMAN",
            "refseq_ac": "NP_001018494",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pumilio homolog 1",
                    "type": "recommended"
                },
                {
                    "name": "HsPUM",
                    "type": "synonym"
                },
                {
                    "name": "Pumilio-1",
                    "type": "synonym"
                },
                {
                    "name": "pumilio homolog 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "pumilio homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "pumilio-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PUM1",
                    "type": "recommended"
                },
                {
                    "name": "HSPUM",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0099",
                    "type": "synonym"
                },
                {
                    "name": "NEDMSF",
                    "type": "synonym"
                },
                {
                    "name": "PUM1",
                    "type": "synonym"
                },
                {
                    "name": "PUMH1",
                    "type": "synonym"
                },
                {
                    "name": "PUMH",
                    "type": "synonym"
                },
                {
                    "name": "PUML1",
                    "type": "synonym"
                },
                {
                    "name": "SCA47",
                    "type": "synonym"
                }
            ],
            "record_id": "Q14671-1",
            "evidence": [
                {
                    "id": "620719",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620719"
                },
                {
                    "id": "0111743",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111743"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q07807-1",
            "uniprot_ac": "Q07807",
            "uniprot_id": "PUF3_YEAST",
            "refseq_ac": "NP_013088",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "mRNA-binding protein PUF3",
                    "type": "recommended"
                },
                {
                    "name": "Pumilio homology domain family member 3",
                    "type": "synonym"
                },
                {
                    "name": "mRNA-binding protein PUF3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PUF3",
                    "type": "recommended"
                },
                {
                    "name": "L1325",
                    "type": "synonym"
                },
                {
                    "name": "PUF3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q07807-1",
            "evidence": [
                {
                    "id": "0111743",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111743"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3Z8L5-1",
            "uniprot_ac": "D3Z8L5",
            "uniprot_id": "D3Z8L5_RAT",
            "refseq_ac": "NP_001424001",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pumilio homolog 1",
                    "type": "recommended"
                },
                {
                    "name": "pumilio 1",
                    "type": "synonym"
                },
                {
                    "name": "pumilio homolog 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "pumilio homolog 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pum1",
                    "type": "recommended"
                },
                {
                    "name": "Pum1",
                    "type": "synonym"
                }
            ],
            "record_id": "D3Z8L5-1",
            "evidence": [
                {
                    "id": "0111743",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111743"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P25822-1",
            "uniprot_ac": "P25822",
            "uniprot_id": "PUM_DROME",
            "refseq_ac": "NP_001262403",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Maternal protein pumilio",
                    "type": "recommended"
                },
                {
                    "name": "CG9755-PG",
                    "type": "synonym"
                },
                {
                    "name": "PUMILIO",
                    "type": "synonym"
                },
                {
                    "name": "bemused",
                    "type": "synonym"
                },
                {
                    "name": "milord",
                    "type": "synonym"
                },
                {
                    "name": "ovarette",
                    "type": "synonym"
                },
                {
                    "name": "pum-PG",
                    "type": "synonym"
                },
                {
                    "name": "pumilio, isoform G",
                    "type": "synonym"
                },
                {
                    "name": "pumillio",
                    "type": "synonym"
                },
                {
                    "name": "pumuckel",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "pum",
                    "type": "recommended"
                },
                {
                    "name": "CG9755",
                    "type": "synonym"
                },
                {
                    "name": "CG9763",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9755",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG9755",
                    "type": "synonym"
                },
                {
                    "name": "EP(3)0883",
                    "type": "synonym"
                },
                {
                    "name": "PKL",
                    "type": "synonym"
                },
                {
                    "name": "PUM",
                    "type": "synonym"
                },
                {
                    "name": "Pum",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0172774.19",
                    "type": "synonym"
                },
                {
                    "name": "bem",
                    "type": "synonym"
                },
                {
                    "name": "fs(3)02003",
                    "type": "synonym"
                },
                {
                    "name": "l(3)01688",
                    "type": "synonym"
                },
                {
                    "name": "ova",
                    "type": "synonym"
                },
                {
                    "name": "ovt",
                    "type": "synonym"
                },
                {
                    "name": "pkl",
                    "type": "synonym"
                },
                {
                    "name": "pum",
                    "type": "synonym"
                }
            ],
            "record_id": "P25822-1",
            "evidence": [
                {
                    "id": "0111743",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111743"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111743"
}