WormMine

WS296

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0111547 retinal arterial tortuosity Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  An artery disease characterized by pronounced tortuosity of second- and third-order retinal arteries with normal first-order arteries and venous system that has_material_basis_in heterozygous mutation in the COL4A1 gene on chromosome 13q34.

1 Ontology

Name
Disease Ontology

10 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:0050736 autosomal dominant disease An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease.
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:0050828 artery disease A vascular disease that is located_in an artery.
DOID:0111547 retinal arterial tortuosity An artery disease characterized by pronounced tortuosity of second- and third-order retinal arteries with normal first-order arteries and venous system that has_material_basis_in heterozygous mutation in the COL4A1 gene on chromosome 13q34.

9 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:0050736 DOID:0111547
is_a DOID:0050828 DOID:0111547
is_a DOID:7 DOID:0111547
is_a DOID:1287 DOID:0111547
is_a DOID:4 DOID:0111547
is_a DOID:178 DOID:0111547
is_a DOID:630 DOID:0111547
is_a DOID:0050739 DOID:0111547
is_a DOID:0050177 DOID:0111547

4 Synonyms

Name Type
RATOR synonym
retinal arteriolar tortuosity synonym
retinal hemorrhage with vascular tortuosity synonym
tortuosity of retinal arteries synonym