Terminology Service for NFDI4Health
Familial Hypertrophic Cardiomyopathy Type 4
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http://purl.obolibrary.org/obo/NCIT_C133725
An autosomal dominant condition caused by mutation(s) in the MYBPC3 gene, encoding MYBPC3 protein. It is characterized by severe neonatal hypertrophic cardiomyopathy. [ ]
Term info
Label
Familial Hypertrophic Cardiomyopathy Type 4
Synonyms
- CMH4
- Familial Hypertrophic Cardiomyopathy Type 4
Preferred Name
Familial Hypertrophic Cardiomyopathy Type 4
Semantic Type
Disease or Syndrome
UMLS CUI
C1861862
code
C133725