01
C19orf12
No data
Diseases
Spastic Paraplegia 43, Autosomal Recessive
spastic paraplegia 43, autosomal recessive
- Entity Type
- Diseases
- Relation Groups
- 1
- Relation Preview
- 4
Basic Information
Grouped by core information, identifiers, and descriptions.
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Core Information
- Disease Name
- Spastic Paraplegia 43, Autosomal Recessive
- Standard Disease Name
- spastic paraplegia 43, autosomal recessive
- MeSH Tree
- No data
- ICD-10
- Q87.8
Identifiers
- DO ID
- No data
- MeSH ID
- C536714
- OMIM ID
- 600001
- UMLS ID
- C2931296
- HPO ID
- No data
Description and Extensions
- Description
- Pancreatic hypoplasia-diabetes-congenital heart disease syndrome is characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies (including transposition of the great vessels