12 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: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:2742 | auditory system disease | A sensory system disease that is characterized by auditory dysfunction located_in the auditory system. |
| 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:0050563 | nonsyndromic deafness | An auditory system disease that is associated with permanent hearing loss caused by damage to structures in the inner ear and/or the middle ear, which is not associated with other signs and symptoms. |
| DOID:0050565 | autosomal recessive nonsyndromic deafness | A nonsyndromic deafness characterized by an autosomal recessive inheritance mode. |
| DOID:0110520 | autosomal recessive nonsyndromic deafness 7 | An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the TMC1 gene on chromosome 9q21. |
11 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0050565 | DOID:0110520 |
| is_a | DOID:0050737 | DOID:0110520 |
| is_a | DOID:2742 | DOID:0110520 |
| is_a | DOID:0050739 | DOID:0110520 |
| is_a | DOID:863 | DOID:0110520 |
| is_a | DOID:7 | DOID:0110520 |
| is_a | DOID:0050563 | DOID:0110520 |
| is_a | DOID:630 | DOID:0110520 |
| is_a | DOID:0050177 | DOID:0110520 |
| is_a | DOID:0050155 | DOID:0110520 |
| is_a | DOID:4 | DOID:0110520 |
