01
- Entity Type
- Diseases
- Relation Groups
- 4
- Relation Preview
- 32
Basic Information
Grouped by core information, identifiers, and descriptions.
Current candidates are inferred from disease-target-ingredient-herb paths and do not represent a formal recommendation ranking.
Core Information
- Disease Name
- 5-Oxoprolinase Deficiency
- Standard Disease Name
- 5-oxoprolinase deficiency
- MeSH Tree
- No data
- ICD-10
- G12.1
Identifiers
- DO ID
- No data
- MeSH ID
- C537111
- OMIM ID
- 211530|614707|211500|211530
- UMLS ID
- C0796274
- HPO ID
- No data
Description and Extensions
- Description
- Riboflavin transporter deficiency (RTD) is a progressive motor neuron disorder characterized by respiratory insufficiency, sensorineural deafness and progressive ponto-bulbar palsy.