11 Parents
| Identifier | Name | Description |
|---|---|---|
| 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:225 | syndrome | A disease characterized by a group of signs and symptoms that occur together and characterize a particular abnormality. |
| 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: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:0050439 | Usher syndrome | A syndrome characterized by a combination of hearing loss and visual impairment. |
| 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:0110827 | Usher syndrome type 2 | An Usher syndrome characterized by mild to severe congenital hearing impairment, normal vestibular function and later development of retinitis pigmentosa. |
| DOID:0110839 | Usher syndrome type 2C | An Usher syndrome type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the ADGRV1 gene on chromosome 5q14. |
10 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0080578 | DOID:0110839 |
| is_a | DOID:0110827 | DOID:0110839 |
| is_a | DOID:0050739 | DOID:0110839 |
| is_a | DOID:0080577 | DOID:0110839 |
| is_a | DOID:0050177 | DOID:0110839 |
| is_a | DOID:225 | DOID:0110839 |
| is_a | DOID:0050737 | DOID:0110839 |
| is_a | DOID:0050439 | DOID:0110839 |
| is_a | DOID:630 | DOID:0110839 |
| is_a | DOID:4 | DOID:0110839 |
