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
- Barth Syndrome
- Standard Disease Name
- barth syndrome
- MeSH Tree
- No data
- ICD-10
- E71.1
Identifiers
- DO ID
- No data
- MeSH ID
- D056889
- OMIM ID
- 302060
- UMLS ID
- C0574083
- HPO ID
- No data
Description and Extensions
- Description
- Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria.