15 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: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:8466 | retinal degeneration | A retinal disease that is characterized by deterioration of the retina caused by the progressive and eventual death of the cells of the retina. |
| DOID:9799 | eye degenerative disease | |
| DOID:4448 | macular degeneration | A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye and has_symptom vision loss. |
| DOID:0070438 | retinal macular dystrophy | A macular degeneration characterized by non-progression or slow progression and drusen-like deposits in varying degrees. |
| DOID:0070517 | retinal macular dystrophy 2 | A retinal macular dystrophy characterized by slowly progressive ''bull's eye'' maculopathy, mild visual impairment, and central scotomata that has_material_basis_in heterozygous mutation in the PROM1 gene on chromosome 4p15.32. |
14 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0070438 | DOID:0070517 |
| is_a | DOID:5679 | DOID:0070517 |
| is_a | DOID:4448 | DOID:0070517 |
| is_a | DOID:0050736 | DOID:0070517 |
| is_a | DOID:5614 | DOID:0070517 |
| is_a | DOID:9799 | DOID:0070517 |
| is_a | DOID:0050739 | DOID:0070517 |
| is_a | DOID:863 | DOID:0070517 |
| is_a | DOID:630 | DOID:0070517 |
| is_a | DOID:0050177 | DOID:0070517 |
| is_a | DOID:4 | DOID:0070517 |
| is_a | DOID:0050155 | DOID:0070517 |
| is_a | DOID:7 | DOID:0070517 |
| is_a | DOID:8466 | DOID:0070517 |
