9 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:0110826 | Usher syndrome type 1 | An Usher syndrome characterized by profound congenital deafness, vestibular dysfunction and early development of retinitis pigmentosa. |
| DOID:0110836 | Usher syndrome type 1J | An Usher syndrome type 1 that has_material_basis_in caused by homozygous mutation in the CIB2 gene on chromosome 15q24. |
8 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0110826 | DOID:0110836 |
| is_a | DOID:630 | DOID:0110836 |
| is_a | DOID:0050177 | DOID:0110836 |
| is_a | DOID:4 | DOID:0110836 |
| is_a | DOID:0050737 | DOID:0110836 |
| is_a | DOID:0050439 | DOID:0110836 |
| is_a | DOID:0050739 | DOID:0110836 |
| is_a | DOID:225 | DOID:0110836 |
