Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

NONAKA MYOPATHY

Synonyms

INCLUSION BODY MYOPATHY, QUADRICEPS-SPARING

ID

http://purl.bioontology.org/ontology/OMIM/605820

altLabel

INCLUSION BODY MYOPATHY, QUADRICEPS-SPARING

NM

MYOPATHY, DISTAL, WITH OR WITHOUT RIMMED VACUOLES

NONAKA DISTAL MYOPATHY

HIBM

QSM

INCLUSION BODY MYOPATHY 2, AUTOSOMAL RECESSIVE, FORMERLY

GNE MYOPATHY

IBM2, FORMERLY

INCLUSION BODY MYOPATHY, HEREDITARY, AUTOSOMAL RECESSIVE

cui

C1853926

Gene Locus

9p13.3

Gene Symbol

DMRV

NM

IBM2

GNE

GLCNE

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU004327

http://purl.bioontology.org/ontology/OMIM/MTHU004325

http://purl.bioontology.org/ontology/OMIM/MTHU004335

http://purl.bioontology.org/ontology/OMIM/MTHU004329

http://purl.bioontology.org/ontology/OMIM/MTHU004333

http://purl.bioontology.org/ontology/OMIM/MTHU004323

http://purl.bioontology.org/ontology/OMIM/MTHU004331

http://purl.bioontology.org/ontology/OMIM/MTHU029487

http://purl.bioontology.org/ontology/OMIM/MTHU004324

http://purl.bioontology.org/ontology/OMIM/MTHU033373

http://purl.bioontology.org/ontology/OMIM/MTHU004326

http://purl.bioontology.org/ontology/OMIM/MTHU004328

http://purl.bioontology.org/ontology/OMIM/MTHU004196

http://purl.bioontology.org/ontology/OMIM/MTHU004332

http://purl.bioontology.org/ontology/OMIM/MTHU004330

http://purl.bioontology.org/ontology/OMIM/MTHU004336

MIMTYPEMEANING

Phenotype description, molecular basis known.

Moved from

600737

notation

605820

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

NONAKA MYOPATHY

tui

T047

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http://purl.bioontology.org/ontology/MESH/C536816 Medical Subject Headings CUI