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: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:0080015 | physical disorder | A disease that has_material_basis_in a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment. |
| 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:8498 | hereditary night blindness | |
| DOID:0050534 | congenital stationary night blindness | A hereditary night blindness that is characterized by hemeralopia with a moderate loss of visual acuity and caused by defective photoreceptor-to-bipolar cell signaling with common ERG findings of reduced or absent b-waves and generally normal a-waves. |
| DOID:8499 | night blindness | A retinal disease that is characterized by difficulty or the inability to see in relatively low light. |
| DOID:0110868 | congenital stationary night blindness 1D | A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the SLC24A1 gene on chromosome 15q22. |
14 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0050737 | DOID:0110868 |
| is_a | DOID:0050534 | DOID:0110868 |
| is_a | DOID:8499 | DOID:0110868 |
| is_a | DOID:863 | DOID:0110868 |
| is_a | DOID:630 | DOID:0110868 |
| is_a | DOID:8498 | DOID:0110868 |
| is_a | DOID:0050177 | DOID:0110868 |
| is_a | DOID:4 | DOID:0110868 |
| is_a | DOID:0050155 | DOID:0110868 |
| is_a | DOID:5679 | DOID:0110868 |
| is_a | DOID:0080015 | DOID:0110868 |
| is_a | DOID:5614 | DOID:0110868 |
| is_a | DOID:7 | DOID:0110868 |
| is_a | DOID:0050739 | DOID:0110868 |
