01
Diseases
Muscular Dystrophy, Emery-Dreifuss
muscular dystrophy, emery-dreifuss
- 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
- Muscular Dystrophy, Emery-Dreifuss
- Standard Disease Name
- muscular dystrophy, emery-dreifuss
- MeSH Tree
- No data
- ICD-10
- No data
Identifiers
- DO ID
- No data
- MeSH ID
- D020389
- OMIM ID
- No data
- UMLS ID
- C0410189
- HPO ID
- No data
Description and Extensions
- Description
- NCI2016_02D:An X-linked or autosomal dominant inherited muscular dystrophy. It is characterized by slowly progressive muscle weakness, atrial conduction defects, cardiomyopathy, and early contractures of the elbow, ankle and neck.|MSH2017_2016_08_12:A heterogenous group of inherited muscular dystrophy without the involvement of nervous system. The disease is characterized by MUSCULAR ATROPHY; MUSCLE WEAKNESS; CONTRACTURE of the elbows; ACHILLES TENDON; and posterior cervical muscles; with or without cardiac features. There are several INHERITANCE PATTERNS including X-linked (X CHROMOSOME), autosomal dominant, and autosomal recessive gene mutations.