Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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Preferred Name

SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS
Synonyms

SANDO
ID

http://purl.bioontology.org/ontology/OMIM/607459
altLabel

SANDO

SCAE

EPM5, FORMERLY

EPILEPSY, PROGRESSIVE MYOCLONIC, WITH SENSORY ATAXIC NEUROPATHY

SPINOCEREBELLAR ATAXIA WITH EPILEPSY

SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE

EPILEPSY, PROGRESSIVE MYOCLONIC, 5, FORMERLY
cui

C4225440

C1843851

C1843852

C4225409
Gene Locus

15q25
Gene Symbol

POLG1

SANDO

MTDPS4B

MTDPS4A

PEO

MIRAS

SCAE

POLGA

POLG
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU000541

http://purl.bioontology.org/ontology/OMIM/MTHU002517

http://purl.bioontology.org/ontology/OMIM/MTHU000283

http://purl.bioontology.org/ontology/OMIM/MTHU000235

http://purl.bioontology.org/ontology/OMIM/MTHU003297

http://purl.bioontology.org/ontology/OMIM/MTHU003291

http://purl.bioontology.org/ontology/OMIM/MTHU028447

http://purl.bioontology.org/ontology/OMIM/MTHU003289

http://purl.bioontology.org/ontology/OMIM/MTHU003287

http://purl.bioontology.org/ontology/OMIM/MTHU001056

http://purl.bioontology.org/ontology/OMIM/MTHU003301

http://purl.bioontology.org/ontology/OMIM/MTHU003305

http://purl.bioontology.org/ontology/OMIM/MTHU003299

http://purl.bioontology.org/ontology/OMIM/MTHU003306

http://purl.bioontology.org/ontology/OMIM/MTHU003295

http://purl.bioontology.org/ontology/OMIM/MTHU000860

http://purl.bioontology.org/ontology/OMIM/MTHU000328

http://purl.bioontology.org/ontology/OMIM/MTHU003293

http://purl.bioontology.org/ontology/OMIM/MTHU003303

http://purl.bioontology.org/ontology/OMIM/MTHU003311

http://purl.bioontology.org/ontology/OMIM/MTHU038815

http://purl.bioontology.org/ontology/OMIM/MTHU038817

http://purl.bioontology.org/ontology/OMIM/MTHU003313

http://purl.bioontology.org/ontology/OMIM/MTHU000751

http://purl.bioontology.org/ontology/OMIM/MTHU000572

http://purl.bioontology.org/ontology/OMIM/MTHU003288

http://purl.bioontology.org/ontology/OMIM/MTHU032437

http://purl.bioontology.org/ontology/OMIM/MTHU001411

http://purl.bioontology.org/ontology/OMIM/MTHU003294

http://purl.bioontology.org/ontology/OMIM/MTHU003298

http://purl.bioontology.org/ontology/OMIM/MTHU003292

http://purl.bioontology.org/ontology/OMIM/MTHU003290

http://purl.bioontology.org/ontology/OMIM/MTHU003296

http://purl.bioontology.org/ontology/OMIM/MTHU003304

http://purl.bioontology.org/ontology/OMIM/MTHU033349

http://purl.bioontology.org/ontology/OMIM/MTHU003317

http://purl.bioontology.org/ontology/OMIM/MTHU003302

http://purl.bioontology.org/ontology/OMIM/MTHU003300

http://purl.bioontology.org/ontology/OMIM/MTHU000940

http://purl.bioontology.org/ontology/OMIM/MTHU003312

http://purl.bioontology.org/ontology/OMIM/MTHU000329

http://purl.bioontology.org/ontology/OMIM/MTHU003316

http://purl.bioontology.org/ontology/OMIM/MTHU038816

http://purl.bioontology.org/ontology/OMIM/MTHU000616
MIMTYPEMEANING

Phenotype description, molecular basis known.
Moved from

613832
notation

607459
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS
tui

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C564395 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C537583 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C537583 Medical Subject Headings LOOM
http://purl.obolibrary.org/obo/DOID_0111276 Human Disease Ontology 123 LOOM