WormMine

WS296

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0081269 pulmonary venoocclusive disease 2 Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  A pulmonary venoocclusive disease that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2AK4 gene on chromosome 15q15 and that is characterized histologically by widespread fibrous intimal proliferation of septal veins and preseptal venules, and is frequently associated with pulmonary capillary dilatation and proliferation.

1 Ontology

Name
Disease Ontology

13 Parents

Identifier Name Description
DOID:178 vascular disease A cardiovascular system disease that primarily affects the blood vessels which includes the arteries, veins and capillaries that carry blood to and from the heart.
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: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:0050828 artery disease A vascular disease that is located_in an artery.
DOID:5453 pulmonary venoocclusive disease A pulmonary hypertension that is characterized by pulmonary venous constriction or occlusion, resulting in pulmonary hypertension.
DOID:10763 hypertension An artery disease characterized by chronic elevated blood pressure in the arteries.
DOID:6432 pulmonary hypertension A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.
DOID:0081269 pulmonary venoocclusive disease 2 A pulmonary venoocclusive disease that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2AK4 gene on chromosome 15q15 and that is characterized histologically by widespread fibrous intimal proliferation of septal veins and preseptal venules, and is frequently associated with pulmonary capillary dilatation and proliferation.

12 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:5453 DOID:0081269
is_a DOID:0050737 DOID:0081269
is_a DOID:630 DOID:0081269
is_a DOID:0050177 DOID:0081269
is_a DOID:178 DOID:0081269
is_a DOID:10763 DOID:0081269
is_a DOID:7 DOID:0081269
is_a DOID:6432 DOID:0081269
is_a DOID:4 DOID:0081269
is_a DOID:1287 DOID:0081269
is_a DOID:0050828 DOID:0081269
is_a DOID:0050739 DOID:0081269

1 Synonyms

Name Type
FAMILIAL PULMONARY CAPILLARY HEMANGIOMATOSIS synonym