WormMine

WS297

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0080663 atrial standstill 2 Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  A heart conduction disease that is characterized by a transient or permanent absence of electrical and mechanical atrial activity and has_material_basis_in homozygous mutation in the NPPA gene on chromosome 1p36.

1 Ontology

Name
Disease Ontology

11 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:0050739 autosomal genetic disease A monogenic disease that has_material_basis_in a mutation in a single gene on one of the non-sex chromosomes.
DOID:0050737 autosomal recessive disease An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop.
DOID:10273 heart conduction disease A cardiovascular system disease that involves the heart's electrical conduction system.
DOID:0080663 atrial standstill 2 A heart conduction disease that is characterized by a transient or permanent absence of electrical and mechanical atrial activity and has_material_basis_in homozygous mutation in the NPPA gene on chromosome 1p36.

10 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:0050737 DOID:0080663
is_a DOID:10273 DOID:0080663
is_a DOID:0050177 DOID:0080663
is_a DOID:114 DOID:0080663
is_a DOID:630 DOID:0080663
is_a DOID:4 DOID:0080663
is_a DOID:0060118 DOID:0080663
is_a DOID:7 DOID:0080663
is_a DOID:1287 DOID:0080663
is_a DOID:0050739 DOID:0080663

0 Synonyms