9 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:630 | genetic disease | A disease that has_material_basis_in genetic variations in the human genome. |
| 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:0060984 | digenic dyskeratosis congenita | A dyskeratosis congenita characterized by combination of mucocutaneous features including abnormal skin pigmentation, nail dystrophy, thin hair, and oral leukoplakia that has_material_basis_in heterozygous mutation in the TYMS gene combined with a specific haplotype in the ENOSF1 gene, both of which reside on chromosome 18p11. |
8 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:2729 | DOID:0060984 |
| is_a | DOID:4 | DOID:0060984 |
| is_a | DOID:37 | DOID:0060984 |
| is_a | DOID:0080578 | DOID:0060984 |
| is_a | DOID:0080577 | DOID:0060984 |
| is_a | DOID:16 | DOID:0060984 |
| is_a | DOID:7 | DOID:0060984 |
| is_a | DOID:630 | DOID:0060984 |
