11 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: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:630 | genetic disease | A disease that has_material_basis_in genetic variations in the human genome. |
| DOID:2742 | auditory system disease | A sensory system disease that is characterized by auditory dysfunction located_in the auditory system. |
| DOID:2952 | inner ear disease | An auditory system disease that is located in the part of the ear that contains organs of the senses of hearing and equilibrium. |
| 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:10003 | sensorineural hearing loss | An inner ear disease that is characterized by hearing loss resulting from damage to the cochlea, auditory nerve and/or brainstem. |
| DOID:0111752 | autosomal-mitochondrial sensorineural deafness | A sensorineural hearing loss characterized by progressive, severe to profound deafness that has_material_basis_in digenic inheritance of mutations in the mitochondrial gene MTRNR1 and an unidentified nuclear gene. |
10 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:10003 | DOID:0111752 |
| is_a | DOID:0080578 | DOID:0111752 |
| is_a | DOID:2742 | DOID:0111752 |
| is_a | DOID:2952 | DOID:0111752 |
| is_a | DOID:630 | DOID:0111752 |
| is_a | DOID:7 | DOID:0111752 |
| is_a | DOID:863 | DOID:0111752 |
| is_a | DOID:4 | DOID:0111752 |
| is_a | DOID:0050155 | DOID:0111752 |
| is_a | DOID:0080577 | DOID:0111752 |
