01
CNDP1
No data
- Entity Type
- Diseases
- Relation Groups
- 1
- Relation Preview
- 2
Basic Information
Grouped by core information, identifiers, and descriptions.
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Core Information
- Disease Name
- Carnosinemia
- Standard Disease Name
- carnosinemia
- MeSH Tree
- No data
- ICD-10
- Q93.5
Identifiers
- DO ID
- No data
- MeSH ID
- No data
- OMIM ID
- 614527
- UMLS ID
- No data
- HPO ID
- No data
Description and Extensions
- Description
- 17q12 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 17 characterized by renal cystic disease, maturity onset diabetes
Related
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Related Targets
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