12 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:13399 | color blindness | A blindness that is characterized by the inability or decreased ability to see color, or perceive color differences, under normal lighting conditions. |
| DOID:1432 | blindness | An eye disease characterized by a lack or loss of vision. |
| DOID:11661 | blue color blindness | A color blindness that is characterized by a selective deficiency of blue vision, has_material_basis_in autosomal dominant inheritance of a mutation in the OPN1SW gene and is associated with a deficiency or absence of blue-sensitive cone photoreceptor function. |
11 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:13399 | DOID:11661 |
| is_a | DOID:0050736 | DOID:11661 |
| is_a | DOID:4 | DOID:11661 |
| is_a | DOID:0050177 | DOID:11661 |
| is_a | DOID:5614 | DOID:11661 |
| is_a | DOID:0050155 | DOID:11661 |
| is_a | DOID:630 | DOID:11661 |
| is_a | DOID:7 | DOID:11661 |
| is_a | DOID:863 | DOID:11661 |
| is_a | DOID:0050739 | DOID:11661 |
| is_a | DOID:1432 | DOID:11661 |
