01
- Entity Type
- Diseases
- Relation Groups
- 1
- Relation Preview
- 8
Basic Information
Grouped by core information, identifiers, and descriptions.
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Core Information
- Disease Name
- Myopathies, Nemaline
- Standard Disease Name
- myopathies, nemaline
- MeSH Tree
- No data
- ICD-10
- G71.2
Identifiers
- DO ID
- No data
- MeSH ID
- D017696
- OMIM ID
- No data
- UMLS ID
- C0206157
- HPO ID
- No data
Description and Extensions
- Description
- MSH2017_2016_08_12:A group of inherited congenital myopathic conditions characterized clinically by weakness, hypotonia, and prominent hypoplasia of proximal muscles including the face. Muscle biopsy reveals large numbers of rod-shaped structures beneath the muscle fiber plasma membrane. This disorder is genetically heterogeneous and may occasionally present in adults. (Adams et al., Principles of Neurology, 6th ed, p1453)
Related
Related Entities
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