18 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:9835 | refractive error | |
| DOID:5656 | cranial nerve disease | A neuropathy that is located_in one of the twelve cranial nerves. |
| DOID:12557 | Duane retraction syndrome | Duane retraction syndrome is a strabismus characterized by a failure of cranial nerve VI (the abducens nerve) to develop normally, resulting in restriction or absence of abduction, adduction, or both, and narrowing of the palpebral fissure and retraction of the globe on attempted adduction. |
| DOID:9834 | hyperopia | A refractive error that is characterized by rays of light entering the eye parallel to the optic axis are brought to a focus behind the retina, as a result of the eyeball being too short from front to back. |
| DOID:1279 | ocular motility disease | |
| DOID:540 | strabismus | A hyperopia that is characterized by eyes that do not properly align with each other when looking at an object. |
| DOID:0061029 | Duane retraction syndrome 3 | A Duane retraction syndrome that has_material_basis_in heterozygous mutation in the MAFB gene on chromosome 20q12. |
17 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:12557 | DOID:0061029 |
| is_a | DOID:0050736 | DOID:0061029 |
| is_a | DOID:9835 | DOID:0061029 |
| is_a | DOID:9834 | DOID:0061029 |
| is_a | DOID:0050177 | DOID:0061029 |
| is_a | DOID:0050155 | DOID:0061029 |
| is_a | DOID:5656 | DOID:0061029 |
| is_a | DOID:1279 | DOID:0061029 |
| is_a | DOID:863 | DOID:0061029 |
| is_a | DOID:5614 | DOID:0061029 |
| is_a | DOID:0050739 | DOID:0061029 |
| is_a | DOID:540 | DOID:0061029 |
| is_a | DOID:7 | DOID:0061029 |
| is_a | DOID:870 | DOID:0061029 |
| is_a | DOID:630 | DOID:0061029 |
| is_a | DOID:4 | DOID:0061029 |
| is_a | DOID:574 | DOID:0061029 |
