15 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:863 | nervous system disease | A disease of anatomical entity that is located_in the central nervous system or located_in the peripheral nervous system. |
| DOID:5614 | eye disease | An eye and adnexa disease that is located_in the eye. |
| DOID:0050155 | sensory system disease | A nervous system disease which is located in a part of the nervous system responsible for processing sensory information that consists of sensory receptors, neural pathways, and parts of the brain involved in sensory perception. Commonly recognized sensory systems are those for vision, hearing, somatic sensation (touch), taste and olfaction (smell). |
| 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:5679 | retinal disease | An eye disease that is located_in the retina. |
| DOID:2462 | retinal vascular disease | |
| DOID:0050535 | exudative vitreoretinopathy | A retinal vascular disease characterized by the prevention of blood vessel formation at the edges of the retina and the hemorrhage of the blood vessels in the retina. |
| DOID:0111408 | exudative vitreoretinopathy 5 | An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in the TSPAN12 gene on chromosome 7q31.31. |
14 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0050535 | DOID:0111408 |
| is_a | DOID:0050736 | DOID:0111408 |
| is_a | DOID:863 | DOID:0111408 |
| is_a | DOID:0050177 | DOID:0111408 |
| is_a | DOID:4 | DOID:0111408 |
| is_a | DOID:0050155 | DOID:0111408 |
| is_a | DOID:1287 | DOID:0111408 |
| is_a | DOID:0050739 | DOID:0111408 |
| is_a | DOID:5614 | DOID:0111408 |
| is_a | DOID:5679 | DOID:0111408 |
| is_a | DOID:2462 | DOID:0111408 |
| is_a | DOID:178 | DOID:0111408 |
| is_a | DOID:630 | DOID:0111408 |
| is_a | DOID:7 | DOID:0111408 |
