01
AHI1
No data
- 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
- Cerebellar Diseases
- Standard Disease Name
- cerebellar diseases
- MeSH Tree
- No data
- ICD-10
- E74.8
Identifiers
- DO ID
- No data
- MeSH ID
- C536414
- OMIM ID
- 259900
- UMLS ID
- C0268164
- HPO ID
- No data
Description and Extensions
- Description
- Primary hyperoxaluria type 1 (PH1) is a rare disorder of glyoxylate metabolism characterized by the accumulation of oxalate due to a deficiency of the peroxisomal hepatic enzyme L-alanine: glyoxylate