17 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: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:5679 | retinal disease | An eye disease that is located_in the retina. |
| DOID:0080578 | digenic disease | A polygenic disease that is characterized by expression of a phenotype that requires the presence of pathogenic variants in two different genes. |
| DOID:0080577 | polygenic disease | A genetic disease that is characterized by the additive contributions of variants in multiple genes at different loci. |
| 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:10584 | retinitis pigmentosa | A retinal degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss. |
| DOID:0110383 | retinitis pigmentosa 7 | A retinitis pigmentosa that has_material_basis_in mutation in the PRPH2 gene on chromosome 6p21. |
16 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0080578 | DOID:0110383 |
| is_a | DOID:0050736 | DOID:0110383 |
| is_a | DOID:10584 | DOID:0110383 |
| is_a | DOID:0050737 | DOID:0110383 |
| is_a | DOID:0050739 | DOID:0110383 |
| is_a | DOID:5679 | DOID:0110383 |
| is_a | DOID:0080577 | DOID:0110383 |
| is_a | DOID:0050177 | DOID:0110383 |
| is_a | DOID:5614 | DOID:0110383 |
| is_a | DOID:0050155 | DOID:0110383 |
| is_a | DOID:7 | DOID:0110383 |
| is_a | DOID:9799 | DOID:0110383 |
| is_a | DOID:8466 | DOID:0110383 |
| is_a | DOID:863 | DOID:0110383 |
| is_a | DOID:630 | DOID:0110383 |
| is_a | DOID:4 | DOID:0110383 |
