Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA

Synonyms

MULTIMINICORE DISEASE WITH EXTERNAL OPHTHALMOPLEGIA

ID

http://purl.bioontology.org/ontology/OMIM/255320

altLabel

MULTIMINICORE DISEASE WITH EXTERNAL OPHTHALMOPLEGIA

MULTIMINICORE MYOPATHY MULTICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA

MULTICORE MYOPATHY

MINICORE MYOPATHY

cui

C1850674

Gene Locus

19q13.1

Gene Symbol

CCO

MHS

RYR1

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU021643

http://purl.bioontology.org/ontology/OMIM/MTHU010839

http://purl.bioontology.org/ontology/OMIM/MTHU042093

http://purl.bioontology.org/ontology/OMIM/MTHU005652

http://purl.bioontology.org/ontology/OMIM/MTHU032349

http://purl.bioontology.org/ontology/OMIM/MTHU042091

http://purl.bioontology.org/ontology/OMIM/MTHU005802

http://purl.bioontology.org/ontology/OMIM/MTHU036957

http://purl.bioontology.org/ontology/OMIM/MTHU003219

http://purl.bioontology.org/ontology/OMIM/MTHU003215

http://purl.bioontology.org/ontology/OMIM/MTHU010849

http://purl.bioontology.org/ontology/OMIM/MTHU007987

http://purl.bioontology.org/ontology/OMIM/MTHU032350

http://purl.bioontology.org/ontology/OMIM/MTHU000379

http://purl.bioontology.org/ontology/OMIM/MTHU032354

http://purl.bioontology.org/ontology/OMIM/MTHU000509

http://purl.bioontology.org/ontology/OMIM/MTHU010850

http://purl.bioontology.org/ontology/OMIM/MTHU010844

http://purl.bioontology.org/ontology/OMIM/MTHU010842

http://purl.bioontology.org/ontology/OMIM/MTHU003222

http://purl.bioontology.org/ontology/OMIM/MTHU003220

http://purl.bioontology.org/ontology/OMIM/MTHU000958

http://purl.bioontology.org/ontology/OMIM/MTHU010854

http://purl.bioontology.org/ontology/OMIM/MTHU045550

http://purl.bioontology.org/ontology/OMIM/MTHU010840

http://purl.bioontology.org/ontology/OMIM/MTHU056967

http://purl.bioontology.org/ontology/OMIM/MTHU000036

http://purl.bioontology.org/ontology/OMIM/MTHU049077

http://purl.bioontology.org/ontology/OMIM/MTHU049075

http://purl.bioontology.org/ontology/OMIM/MTHU032348

http://purl.bioontology.org/ontology/OMIM/MTHU003056

http://purl.bioontology.org/ontology/OMIM/MTHU037783

http://purl.bioontology.org/ontology/OMIM/MTHU008285

http://purl.bioontology.org/ontology/OMIM/MTHU032355

http://purl.bioontology.org/ontology/OMIM/MTHU042090

http://purl.bioontology.org/ontology/OMIM/MTHU010838

http://purl.bioontology.org/ontology/OMIM/MTHU042092

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

http://purl.bioontology.org/ontology/OMIM/MTHU001330

http://purl.bioontology.org/ontology/OMIM/MTHU000422

http://purl.bioontology.org/ontology/OMIM/MTHU010841

http://purl.bioontology.org/ontology/OMIM/MTHU003218

http://purl.bioontology.org/ontology/OMIM/MTHU010848

http://purl.bioontology.org/ontology/OMIM/MTHU003216

http://purl.bioontology.org/ontology/OMIM/MTHU032353

http://purl.bioontology.org/ontology/OMIM/MTHU003221

http://purl.bioontology.org/ontology/OMIM/MTHU010851

http://purl.bioontology.org/ontology/OMIM/MTHU010843

http://purl.bioontology.org/ontology/OMIM/MTHU000730

http://purl.bioontology.org/ontology/OMIM/MTHU010738

http://purl.bioontology.org/ontology/OMIM/MTHU045551

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

http://purl.bioontology.org/ontology/OMIM/MTHU049076

http://purl.bioontology.org/ontology/OMIM/MTHU036439

MIMTYPEMEANING

Phenotype description, molecular basis known.

Moved from

607552

notation

255320

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA

tui

T047

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C564969 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C564969 Medical Subject Headings LOOM