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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/620757
http://purl.bioontology.org/ontology/OMIM/620757
|
|---|---|
| Preferred Name | THROMBOCYTOPENIA 12 WITH OR WITHOUT MYOPATHY |
| Synonyms |
THC12
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | THC12
|
|---|---|
| prefLabel | THROMBOCYTOPENIA 12 WITH OR WITHOUT MYOPATHY
|
| Gene Symbol |
IBM2
GNE
DMRV
NM
THC12
GLCNE
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| Scope Statement | Onset of thrombocytopenia in infancy [MISCELLANEOUS]
Lower limbs predominantly affected (in some patients) [MISCELLANEOUS]
Onset of myopathy in the second or third decades (in most patients) [MISCELLANEOUS]
Variable severity [MISCELLANEOUS]
Caused by mutation in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene (GNE, 603824.0013) [MOLECULAR BASIS]
Some patients do not have excessive bleeding [MISCELLANEOUS]
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| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 9p13.3
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 620757
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5935593
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |