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Summary Literature (0)
DOID:0111074 - progressive familial heart block type IA


Disease Ontology 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.

Synonyms: PFHB1A

Xenbase Genes : scn5a

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0007240 - progressive familial heart block, type 1A

OMIM:
OMIM:113900 - PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA; PFHB1A

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): progressive familial heart block (is_a)