{ "disease_id": "DOID:0111276", "recommended_name": { "id": "DOID:0111276", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111276", "name": "sensory ataxic neuropathy, dysarthria, and ophthalmoparesis", "description": "A mitochondrial metabolism disease characterized by mitochondrial dysfunction resulting in adult onset of sensory ataxic neuropathy, dysarthria, and progressive external ophthalmoparesis that has_material_basis_in homozygous or compound heterozygous mutation in POLG on 15q26.1." }, "synonyms": [ { "id": "DOID:0111276", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111276", "name": "SANDO", "description": "" }, { "id": "DOID:0111276", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111276", "name": "autosomal recessive sensory ataxic neuropathy with mitochondrial DNA deletions", "description": "" }, { "id": "MONDO:0011835", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011835", "name": "sensory ataxic neuropathy, dysarthria, and ophthalmoparesis", "description": "A rare mitochondrial disease characterized by adult onset of the triad of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis. Additional signs and symptoms are highly variable and include myopathy, seizures, and hearing loss, among others. Brain imaging may show cerebellar white matter abnormalities and/or bilateral thalamic lesions." }, { "id": "MONDO:0011835", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011835", "name": "EPM5", "description": "" }, { "id": "MONDO:0011835", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011835", "name": "PME type 5", "description": "" }, { "id": "MONDO:0011835", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011835", "name": "PRICKLE2 progressive myoclonic epilepsy", "description": "" }, { "id": "MONDO:0011835", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011835", "name": "SANDO", "description": "" }, { "id": "MONDO:0011835", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011835", "name": "epilepsy, progressive myoclonic, type 5", "description": "" }, { "id": "MONDO:0011835", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011835", "name": "mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)", "description": "" }, { "id": "MONDO:0011835", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011835", "name": "progressive myoclonic epilepsy caused by mutation in PRICKLE2", "description": "" }, { "id": "MONDO:0011835", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011835", "name": "progressive myoclonus epilepsy type 5", "description": "" }, { "id": "MONDO:0011835", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011835", "name": "sensory ataxic neuropathy, dysarthria, and ophthalmoparesis", "description": "" }, { "id": "MONDO:0011835", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011835", "name": "epilepsy, progressive myoclonic, 5", "description": "" }, { "id": "MONDO:0011835", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011835", "name": "sensory ataxic neuropathy, dysarthria, and ophthalmoparesis", "description": "A rare mitochondrial disease characterized by adult onset of the triad of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis. Additional signs and symptoms are highly variable and include myopathy, seizures, and hearing loss, among others. Brain imaging may show cerebellar white matter abnormalities and/or bilateral thalamic lesions." }, { "id": "MONDO:0011835", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011835", "name": "EPM5", "description": "" }, { "id": "MONDO:0011835", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011835", "name": "PME type 5", "description": "" }, { "id": "MONDO:0011835", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011835", "name": "PRICKLE2 progressive myoclonic epilepsy", "description": "" }, { "id": "MONDO:0011835", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011835", "name": "SANDO", "description": "" }, { "id": "MONDO:0011835", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011835", "name": "epilepsy, progressive myoclonic, type 5", "description": "" }, { "id": "MONDO:0011835", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011835", "name": "mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)", "description": "" }, { "id": "MONDO:0011835", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011835", "name": "progressive myoclonic epilepsy caused by mutation in PRICKLE2", "description": "" }, { "id": "MONDO:0011835", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011835", "name": "progressive myoclonus epilepsy type 5", "description": "" }, { "id": "MONDO:0011835", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011835", "name": "sensory ataxic neuropathy, dysarthria, and ophthalmoparesis", "description": "" }, { "id": "MONDO:0011835", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011835", "name": "epilepsy, progressive myoclonic, 5", "description": "" }, { "id": "MIM:607459", "resource": "MIM", "url": "https://www.omim.org/entry/607459", "name": "Sensory ataxic neuropathy dysarthria and ophthalmoparesis", "description": "Sensory ataxic neuropathy dysarthria and ophthalmoparesis" } ], "children": [], "id_list": [ "DOID:0111276" ], "unlinked_id_list": [], "crossref": [ { "id": "DOID:0111276", "database": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111276", "categories": [] }, { "id": "MONDO:0011835", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011835", "categories": [] }, { "id": "MIM:607459", "database": "MIM", "url": "https://www.omim.org/entry/607459", "categories": [] } ], "proteins": [ { "uniprot_canonical_ac": "F8W5R6-1", "uniprot_ac": "F8W5R6", "uniprot_id": "F8W5R6_DANRE", "refseq_ac": "XP_001921130", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "DNA polymerase subunit gamma-1", "type": "recommended" }, { "name": "2.7.7.7", "type": "synonym" }, { "name": "DNA polymerase subunit gamma-1 isoform X1", "type": "synonym" }, { "name": "Mitochondrial DNA polymerase catalytic subunit", "type": "synonym" } ], "gene_names": [ { "name": "polg", "type": "recommended" }, { "name": "polg", "type": "synonym" } ], "record_id": "F8W5R6-1", "evidence": [ { "id": "0111276", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111276" } ] }, { "uniprot_canonical_ac": "P54099-1", "uniprot_ac": "P54099", "uniprot_id": "DPOG1_MOUSE", "refseq_ac": "", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "DNA polymerase subunit gamma-1", "type": "recommended" }, { "name": "2.7.7.7", "type": "synonym" }, { "name": "3'-5' exodeoxyribonuclease", "type": "synonym" }, { "name": "3.1.11.-", "type": "synonym" }, { "name": "4.2.99.-", "type": "synonym" }, { "name": "5'-deoxyribose-phosphate lyase", "type": "synonym" }, { "name": "Mitochondrial DNA polymerase catalytic subunit", "type": "synonym" }, { "name": "PolG-alpha", "type": "synonym" }, { "name": "PolgA", "type": "synonym" } ], "gene_names": [ { "name": "Polg", "type": "recommended" }, { "name": "Polg1", "type": "synonym" } ], "record_id": "P54099-1", "evidence": [ { "id": "0111276", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111276" } ] }, { "uniprot_canonical_ac": "P54098-1", "uniprot_ac": "P54098", "uniprot_id": "DPOG1_HUMAN", "refseq_ac": "NP_001119603", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "DNA polymerase subunit gamma-1", "type": "recommended" }, { "name": "2.7.7.7", "type": "synonym" }, { "name": "3'-5' exodeoxyribonuclease", "type": "synonym" }, { "name": "3.1.11.-", "type": "synonym" }, { "name": "4.2.99.-", "type": "synonym" }, { "name": "5'-deoxyribose-phosphate lyase", "type": "synonym" }, { "name": "DNA polymerase subunit gamma-1", "type": "synonym" }, { "name": "Mitochondrial DNA polymerase catalytic subunit", "type": "synonym" }, { "name": "PolG-alpha", "type": "synonym" }, { "name": "mitochondrial DNA polymerase catalytic subunit", "type": "synonym" }, { "name": "mitochondrial polymerase gamma catalytic subunit", "type": "synonym" }, { "name": "polymerase (DNA directed), gamma", "type": "synonym" }, { "name": "polymerase (DNA) gamma, catalytic subunit", "type": "synonym" } ], "gene_names": [ { "name": "POLG", "type": "recommended" }, { "name": "MDP1", "type": "synonym" }, { "name": "MIRAS", "type": "synonym" }, { "name": "MTDPS4A", "type": "synonym" }, { "name": "MTDPS4B", "type": "synonym" }, { "name": "PEO", "type": "synonym" }, { "name": "POLG1", "type": "synonym" }, { "name": "POLGA", "type": "synonym" }, { "name": "POLG", "type": "synonym" }, { "name": "PolG-alpha", "type": "synonym" }, { "name": "SANDO", "type": "synonym" }, { "name": "SCAE", "type": "synonym" } ], "record_id": "P54098-1", "evidence": [ { "id": "607459", "database": "MIM", "url": "https://www.omim.org/entry/607459" }, { "id": "0111276", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111276" } ] }, { "uniprot_canonical_ac": "P15801-1", "uniprot_ac": "P15801", "uniprot_id": "DPOG_YEAST", "refseq_ac": "NP_014975", "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": "DNA polymerase gamma", "type": "recommended" }, { "name": "2.7.7.7", "type": "synonym" }, { "name": "DNA-directed DNA polymerase gamma MIP1", "type": "synonym" }, { "name": "Mitochondrial DNA polymerase catalytic subunit", "type": "synonym" } ], "gene_names": [ { "name": "MIP1", "type": "recommended" }, { "name": "MIP1", "type": "synonym" } ], "record_id": "P15801-1", "evidence": [ { "id": "0111276", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111276" } ] }, { "uniprot_canonical_ac": "Q9QYV8-1", "uniprot_ac": "Q9QYV8", "uniprot_id": "DPOG1_RAT", "refseq_ac": "NP_445980", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "DNA polymerase subunit gamma-1", "type": "recommended" }, { "name": "2.7.7.7", "type": "synonym" }, { "name": "3'-5' exodeoxyribonuclease", "type": "synonym" }, { "name": "3.1.11.-", "type": "synonym" }, { "name": "4.2.99.-", "type": "synonym" }, { "name": "5'-deoxyribose-phosphate lyase", "type": "synonym" }, { "name": "DNA polymerase subunit gamma-1", "type": "synonym" }, { "name": "DNA-directed DNA polymerase gamma", "type": "synonym" }, { "name": "Mitochondrial DNA polymerase catalytic subunit", "type": "synonym" }, { "name": "PolG-alpha", "type": "synonym" }, { "name": "mitochondrial DNA polymerase catalytic subunit", "type": "synonym" }, { "name": "polG-alpha", "type": "synonym" }, { "name": "polymerase (DNA directed), gamma", "type": "synonym" }, { "name": "polymerase (DNA) gamma, catalytic subunit", "type": "synonym" } ], "gene_names": [ { "name": "Polg", "type": "recommended" }, { "name": "Mip1", "type": "synonym" }, { "name": "Polg1", "type": "synonym" }, { "name": "Polg", "type": "synonym" } ], "record_id": "Q9QYV8-1", "evidence": [ { "id": "0111276", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111276" } ] }, { "uniprot_canonical_ac": "Q27607-1", "uniprot_ac": "Q27607", "uniprot_id": "DPOG1_DROME", "refseq_ac": "NP_476821", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": 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"https://www.alliancegenome.org/disease/DOID:0111276" } ] } ], "glycans": [], "biomarkers": [], "association_flag": "1000", "record_id": "doid.0111276" }