Cell Culture Ontology

Last uploaded: July 23, 2014
Preferred Name

progressive familial heart block
Synonyms

hereditary bundle branch defect

familial progressive cardiac conduction defect

familial Lenegre disease

familial Lev disease

familial Lenègre disease

familial Lev-Lenegre disease

familial Lev-Lenègre disease

familial progressive heart block

familial PCCD

PFHB

Definitions

A hereditary cardiac conduction disorder that may progress to complete atrioventricular (AV) block. The disease is either asymptomatic or manifests as dyspnea, dizziness, syncope, abdominal pain, heart failure or sudden death.

ID

http://purl.obolibrary.org/obo/MONDO_0019490

database_cross_reference

Orphanet:871

OMIMPS:113900

SCTID:93130009

SCTID:698249005

DOID:0111073

GARD:10005

ICD9:426.6

definition

A hereditary cardiac conduction disorder that may progress to complete atrioventricular (AV) block. The disease is either asymptomatic or manifests as dyspnea, dizziness, syncope, abdominal pain, heart failure or sudden death.

has_exact_synonym

familial Lenegre disease

familial Lev disease

familial Lenègre disease

familial Lev-Lenegre disease

familial Lev-Lenègre disease

familial progressive heart block

familial PCCD

PFHB

has_narrow_synonym

hereditary bundle branch defect

has_related_synonym

familial progressive cardiac conduction defect

id

MONDO:0019490

in_subset

http://purl.obolibrary.org/obo/mondo/mondo-base#rare

http://purl.obolibrary.org/obo/mondo/mondo-base#otar

http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare

http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare

http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare

http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder

label

progressive familial heart block

notation

MONDO:0019490

preferred label

progressive familial heart block

prefLabel

progressive familial heart block

skos_exactMatch

http://purl.obolibrary.org/obo/DOID_0111073

http://purl.obolibrary.org/obo/Orphanet_871

https://omim.org/phenotypicSeries/PS113900

http://identifiers.org/snomedct/698249005

subClassOf

http://purl.obolibrary.org/obo/MONDO_0000992

http://purl.obolibrary.org/obo/MONDO_0100547

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