10 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: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:0050632 | oculocutaneous albinism | A syndrome characterized by abnormal pigmentation of the skin, hair and eyes. |
| DOID:0070095 | oculocutaneous albinism type IB | An oculocutaneous albinism that has_material_basis_in an autosomal recessive hypomorphic mutation of TYR on chromosome 11q14.3 with retention of some residual protein activity. |
9 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0050632 | DOID:0070095 |
| is_a | DOID:0080578 | DOID:0070095 |
| is_a | DOID:0050737 | DOID:0070095 |
| is_a | DOID:0050739 | DOID:0070095 |
| is_a | DOID:225 | DOID:0070095 |
| is_a | DOID:630 | DOID:0070095 |
| is_a | DOID:0050177 | DOID:0070095 |
| is_a | DOID:4 | DOID:0070095 |
| is_a | DOID:0080577 | DOID:0070095 |
