WormMine

WS295

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0110221 Brugada syndrome 4 Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  A Brugada syndrome that has_material_basis_in heterozygous mutation in the gene encoding the beta-2 subunit of the voltage-dependent L-type calcium channel (CACNB2) on chromosome 10p12.

1 Ontology

Name
Disease Ontology

10 Parents

Identifier Name Description
DOID:7 disease of anatomical entity A disease that manifests in a defined anatomical structure.
DOID:4 disease A disease is a disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism.
DOID:1287 cardiovascular system disease A disease of anatomical entity which occurs in the blood, heart, blood vessels or the lymphatic system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells or lymph to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis.
DOID:114 heart disease A cardiovascular system disease that involves the heart.
DOID:0060118 thoracic disease A disease of anatomical entity that is located_in the thoracic cavity.
DOID:0050177 monogenic disease A genetic disease that is the result of one or more abnormal alleles and may be dominant, semi-dominant, or recessive.
DOID:630 genetic disease A disease that has_material_basis_in genetic variations in the human genome.
DOID:0050451 Brugada syndrome A heart conduction disease that is characterized by abnormal electrocardiogram (ECG) findings and an increased risk of sudden cardiac death.
DOID:10273 heart conduction disease A cardiovascular system disease that involves the heart's electrical conduction system.
DOID:0110221 Brugada syndrome 4 A Brugada syndrome that has_material_basis_in heterozygous mutation in the gene encoding the beta-2 subunit of the voltage-dependent L-type calcium channel (CACNB2) on chromosome 10p12.

9 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:0050451 DOID:0110221
is_a DOID:1287 DOID:0110221
is_a DOID:0050177 DOID:0110221
is_a DOID:7 DOID:0110221
is_a DOID:10273 DOID:0110221
is_a DOID:4 DOID:0110221
is_a DOID:114 DOID:0110221
is_a DOID:630 DOID:0110221
is_a DOID:0060118 DOID:0110221

1 Synonyms

Name Type
BRGDA4 synonym