01
ATP2A1
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1
- 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
- Congenital Myotonic Dystrophy
- Standard Disease Name
- congenital myotonic dystrophy
- MeSH Tree
- No data
- ICD-10
- Q87.0
Identifiers
- DO ID
- No data
- MeSH ID
- No data
- OMIM ID
- 101600
- UMLS ID
- No data
- HPO ID
- No data
Description and Extensions
- Description
- Pfeiffer syndrome type 2 (PS2) is a frequent and severe type of Pfeiffer syndrome (PS; see this term), characterized by cloverleaf skull, severe associated functional disorders, and hand/foot and elbo