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progressive familial heart block type IA
Summary
- Synonym
-
- PFHB1A
- Definition
- A progressive familial heart block characterized by autosomal dominant inheritance of cardiac bundle branch disorder that may progress to complete heart block that has_material_basis_in mutation in the SCN5A gene on chromosome 3p21.
- Super Class
- autosomal dominant disease progressive familial heart block
External Links
- Disease Ontology
- DOID:0111074
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
Related Genes
