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:574 | peripheral nervous system disease | A nervous system disease that affects the peripheral nervous system. |
| 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:870 | neuropathy | A nervous system disease that is located_in nerves or nerve cells. |
| DOID:0080015 | physical disorder | A disease that has_material_basis_in a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment. |
| DOID:5656 | cranial nerve disease | A neuropathy that is located_in one of the twelve cranial nerves. |
| DOID:1279 | ocular motility disease | |
| DOID:9649 | congenital nystagmus | A pathologic nystagmus, present at birth, characterized by involuntary, rhythmic eye movements; oscillations are usually horizontal in direction. |
| DOID:9650 | pathologic nystagmus | |
| DOID:0111792 | congenital nystagmus 2 | A congenital nystagmus that has_material_basis_in heterozygous mutation in a region of chromosome 6p12. |
16 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:9649 | DOID:0111792 |
| is_a | DOID:0050736 | DOID:0111792 |
| is_a | DOID:9650 | DOID:0111792 |
| is_a | DOID:0080015 | DOID:0111792 |
| is_a | DOID:0050177 | DOID:0111792 |
| is_a | DOID:0050155 | DOID:0111792 |
| is_a | DOID:870 | DOID:0111792 |
| is_a | DOID:1279 | DOID:0111792 |
| is_a | DOID:574 | DOID:0111792 |
| is_a | DOID:630 | DOID:0111792 |
| is_a | DOID:5656 | DOID:0111792 |
| is_a | DOID:863 | DOID:0111792 |
| is_a | DOID:0050739 | DOID:0111792 |
| is_a | DOID:5614 | DOID:0111792 |
| is_a | DOID:7 | DOID:0111792 |
| is_a | DOID:4 | DOID:0111792 |
