01
- Entity Type
- Diseases
- Relation Groups
- 1
- Relation Preview
- 8
Basic Information
Grouped by core information, identifiers, and descriptions.
Quick relations do not expand inferred candidates by default. Load path-derived ingredients or herbs when needed.
Core Information
- Disease Name
- Bloom Syndrome
- Standard Disease Name
- bloom syndrome
- MeSH Tree
- No data
- ICD-10
- No data
Identifiers
- DO ID
- No data
- MeSH ID
- D017237
- OMIM ID
- 516020|590095|590050|590005|590055
- UMLS ID
- C0162666
- HPO ID
- No data
Description and Extensions
- Description
- MSH2017_2016_08_12:A heterogenous group of disorders characterized by alterations of mitochondrial metabolism that result in muscle and nervous system dysfunction. These are often multisystemic and vary considerably in age at onset (usually in the first or second decade of life), distribution of affected muscles, severity, and course. (From Adams et al., Principles of Neurology, 6th ed, pp984-5)
Related
Related Entities
Direct relations and traceable candidates grouped by relation type.
Related Targets
target disease8 Targets