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
- Refsum Disease
- Standard Disease Name
- refsum disease
- MeSH Tree
- No data
- ICD-10
- G60.1
Identifiers
- DO ID
- No data
- MeSH ID
- D012035
- OMIM ID
- 614879|266500
- UMLS ID
- C0034960
- HPO ID
- No data
Description and Extensions
- Description
- Refsum disease (RD) is a very rare, clinically variable, multisystemic metabolic disease, characterized by anosmia, early-onset retinitis pigmentosa (see this term) and possible neurological manifesta