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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/605820
http://purl.bioontology.org/ontology/OMIM/605820
|
|---|---|
| Preferred Name | NONAKA MYOPATHY |
| Synonyms |
INCLUSION BODY MYOPATHY 2, AUTOSOMAL RECESSIVE, FORMERLY
INCLUSION BODY MYOPATHY, QUADRICEPS-SPARING
HIBM
INCLUSION BODY MYOPATHY, HEREDITARY, AUTOSOMAL RECESSIVE
NM
MYOPATHY, DISTAL, WITH OR WITHOUT RIMMED VACUOLES
NONAKA DISTAL MYOPATHY
QSM
GNE MYOPATHY
IBM2, FORMERLY
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
INCLUSION BODY MYOPATHY 2, AUTOSOMAL RECESSIVE, FORMERLY
INCLUSION BODY MYOPATHY, QUADRICEPS-SPARING
HIBM
INCLUSION BODY MYOPATHY, HEREDITARY, AUTOSOMAL RECESSIVE
NM
MYOPATHY, DISTAL, WITH OR WITHOUT RIMMED VACUOLES
NONAKA DISTAL MYOPATHY
QSM
GNE MYOPATHY
IBM2, FORMERLY
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|---|---|
| prefLabel | NONAKA MYOPATHY
|
| Gene Symbol |
IBM2
GNE
DMRV
NM
THC12
GLCNE
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|
| Scope Statement | Wheelchair-bound average 12 years after onset [MISCELLANEOUS]
Onset in early adulthood (average 26 years) [MISCELLANEOUS]
Caused by mutation in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene (GNE, 603824.0012) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 9p13.3
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 605820
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1853926
|
| Moved from | 600737
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |