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RFX5
No data
Diseases
Bare Lymphocyte Syndrome, Type Ii, Complementation Group C
bare lymphocyte syndrome, type ii, complementation group c
- Entity Type
- Diseases
- Relation Groups
- 1
- Relation Preview
- 1
Basic Information
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Core Information
- Disease Name
- Bare Lymphocyte Syndrome, Type Ii, Complementation Group C
- Standard Disease Name
- bare lymphocyte syndrome, type ii, complementation group c
- MeSH Tree
- No data
- ICD-10
- No data
Identifiers
- DO ID
- No data
- MeSH ID
- No data
- OMIM ID
- No data
- UMLS ID
- C4275077
- HPO ID
- No data
Description and Extensions
- Description
- SNOMEDCT_US_2016_09_01:This syndrome is characterized by the association of paroxysmal dyskinesia and generalized epilepsy (usually absence or generalized tonic-clonic seizures) in the same individual or family. The prevalence is unknown. Transmission is autosomal dominant.|SNOMEDCT_US_2016_09_01:This syndrome is characterised by the association of paroxysmal dyskinesia and generalised epilepsy (usually absence or generalised tonic-clonic seizures) in the same individual or family. The prevalence is unknown. Transmission is autosomal dominant.
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Related Targets
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