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Metadata
ID DOID:0111074
Name progressive familial heart block type IA
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.
https://www.ncbi.nlm.nih.gov/pubmed/10471492, https://www.ncbi.nlm.nih.gov/pubmed/897853
Xrefs

MIM:113900

Synonyms

PFHB1A [EXACT]

Parent Relationships

is_a autosomal dominant disease

is_a progressive familial heart block

Subclass Logical Relationships

has material basis in some autosomal dominant inheritance

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