10 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:0050736 | autosomal dominant disease | An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease. |
| 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:0112241 | multiple benign circumferential skin creases on limbs | A skin disease characterized by benign circumferential skin creases, mainly on the limbs, due to folding of excess skin. |
| DOID:0112243 | congenital symmetric circumferential skin creases 2 | A multiple benign circumferential skin creases on limbs characterized by folding of excess skin, which leads to ringed creases, primarily of the limbs, intellectual disability, cleft palate, and dysmorphic features that has_material_basis_in heterozygous mutation in the MAPRE2 gene on chromosome 18q12.1-q12.2. |
9 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0050736 | DOID:0112243 |
| is_a | DOID:0112241 | DOID:0112243 |
| is_a | DOID:0050177 | DOID:0112243 |
| is_a | DOID:630 | DOID:0112243 |
| is_a | DOID:0050739 | DOID:0112243 |
| is_a | DOID:16 | DOID:0112243 |
| is_a | DOID:7 | DOID:0112243 |
| is_a | DOID:4 | DOID:0112243 |
| is_a | DOID:37 | DOID:0112243 |
