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:37 | skin disease | An integumentary system disease that is located_in skin. |
| DOID:16 | integumentary system disease | A disease of anatomical entity that is located_in the integumentary system comprising the skin and its appendages. |
| 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:0050735 | X-linked monogenic disease | A monogenic disease that has_material_basis_in mutations in genes on the X chromosome. |
| DOID:0080012 | X-linked recessive disease | A X-linked monogenic disease that has_material_basis_in recessive inheritance. |
| 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:2729 | dyskeratosis congenita | A skin disease characterized by cutaneous pigmentation, premature graying, dystrophy of the nails, leukoplakia of the oral mucosa, continuous lacrimation due to atresia of the lacrimal ducts, often thrombocytopenia, anemia, testicular atrophy in the male carriers and predisposition to cancer. |
| DOID:0070025 | X-linked dyskeratosis congenita | A dyskeratosis congenita that has_material_basis_in an X-linked recessive mutation of the DKC1 gene on chromosome Xq28. |
11 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:2729 | DOID:0070025 |
| is_a | DOID:0080012 | DOID:0070025 |
| is_a | DOID:4 | DOID:0070025 |
| is_a | DOID:630 | DOID:0070025 |
| is_a | DOID:0050177 | DOID:0070025 |
| is_a | DOID:16 | DOID:0070025 |
| is_a | DOID:37 | DOID:0070025 |
| is_a | DOID:0080578 | DOID:0070025 |
| is_a | DOID:0080577 | DOID:0070025 |
| is_a | DOID:0050735 | DOID:0070025 |
| is_a | DOID:7 | DOID:0070025 |
