8 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:0050427 | xeroderma pigmentosum | A syndrome that is characterized by a deficiency in the ability to repair ultraviolet damage that has_material_basis_in autosomal recessive inheritance of DNA repair. |
| DOID:0110847 | xeroderma pigmentosum variant type | A xeroderma pigmentosum characterized by normal DNA excision repair, but defective postreplication repair that has_material_basis_in mutations in the POLH gene on chromosome 6p21.1. |
7 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0050427 | DOID:0110847 |
| is_a | DOID:630 | DOID:0110847 |
| is_a | DOID:0050177 | DOID:0110847 |
| is_a | DOID:4 | DOID:0110847 |
| is_a | DOID:0050737 | DOID:0110847 |
| is_a | DOID:0050739 | DOID:0110847 |
| is_a | DOID:225 | DOID:0110847 |
