Human Disease Ontology 123

Last uploaded: September 28, 2023

Preferred Name	progressive familial heart block
Synonyms	familial progressive heart block
Definitions	A heart conduction disease characterized by autosomal dominant inheritance of a cardiac conduction defect that may progress to complete atrioventricular (AV) block and maybe asymptomatic of manifest as shortness of breath, dizziness, syncope, abdominal pain, heart failure or sudden death.
ID	http://purl.obolibrary.org/obo/DOID_0111073
database_cross_reference	ORDO:871 OMIM:PS113900
definition	A heart conduction disease characterized by autosomal dominant inheritance of a cardiac conduction defect that may progress to complete atrioventricular (AV) block and maybe asymptomatic of manifest as shortness of breath, dizziness, syncope, abdominal pain, heart failure or sudden death.
has exact synonym	familial progressive heart block familial Lev-Lenegre disease PFHB familial PCCD familial Lev disease familial Lenegre disease hereditary bundle branch defect
has symptom	http://purl.obolibrary.org/obo/SYMP_0000407 http://purl.obolibrary.org/obo/SYMP_0000292 http://purl.obolibrary.org/obo/SYMP_0000610 http://purl.obolibrary.org/obo/SYMP_0019153 http://purl.obolibrary.org/obo/SYMP_0000457
has_obo_namespace	disease_ontology
id	DOID:0111073
in_subset	http://purl.obolibrary.org/obo/doid#DO_rare_slim
label	progressive familial heart block
notation	DOID:0111073
prefLabel	progressive familial heart block
subClassOf	http://purl.obolibrary.org/obo/DOID_10273

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