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Metadata
ID DOID:0111076
Name progressive familial heart block type IB
Definition A progressive familial heart block characterized by that has_material_basis_in heterozygous mutation in the TRPM4 gene on chromosome 19q13.
https://www.ncbi.nlm.nih.gov/pubmed/19726882, https://www.ncbi.nlm.nih.gov/pubmed/897853
Xrefs

MESH:C567037

OMIM:604559

Synonyms

PFHB1B [EXACT]

Parent Relationships

is_a progressive familial heart block

is_a autosomal dominant disease

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