Human Disease Ontology

Last uploaded: June 28, 2024
Preferred Name

atrial standstill 1

Synonyms
Definitions

A heart conduction disease that is characterized by a transient or permanent absence of electrical and mechanical atrial activity and that has_material_basis_in coinheritance of a variant in the SCN5A gene in combination with a rare connexin-40 genotype.

ID

http://purl.obolibrary.org/obo/DOID_0080662

database_cross_reference

MIM:108770

ORDO:1344

definition

A heart conduction disease that is characterized by a transient or permanent absence of electrical and mechanical atrial activity and that has_material_basis_in coinheritance of a variant in the SCN5A gene in combination with a rare connexin-40 genotype.

has material basis in

http://purl.obolibrary.org/obo/GENO_0000147

has_obo_namespace

disease_ontology

id

DOID:0080662

in_subset

http://purl.obolibrary.org/obo/doid#DO_rare_slim

label

atrial standstill 1

notation

DOID:0080662

prefLabel

atrial standstill 1

subClassOf

http://purl.obolibrary.org/obo/DOID_10273

http://purl.obolibrary.org/obo/DOID_0050736

Delete Subject Author Type Created
No notes to display