14 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:2723 | dermatitis | A skin disease characterized by itchy, erythematous, vesicular, weeping and crusting patches of skin. |
| 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:8502 | bullous skin disease | A dermatitis that is characterized by blisters filled with a watery fluid, located_in skin. The disease is associated with the amount of gluten ingested. |
| 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:2731 | vesiculobullous skin disease | A bullous skin disease that is characterized by fluid filled blisters. |
| DOID:2730 | epidermolysis bullosa | A vesiculobullous skin disease that is characterized by formation of blisters with only minor skin trauma, which can cause widespread wounds, dehydration, electrolyte abnormalities, and severe infection, frequently develops_from mutations in connective tissue elements, including genes encoding keratin, collagen, and laminin. |
| DOID:3209 | junctional epidermolysis bullosa | An epidermolysis bullosa that is characterized by recurrent blistering located in the lamina lucida of the basement membrane secondary to minor trauma, which can cause limited wounds, dehydration, electrolyte abnormalities, severe infection, among other issues, and has_material_basis_in mutation in genes related to laminin 332, which strengthens the skin. |
| DOID:0060733 | junctional epidermolysis bullosa with pyloric atresia | A junctional epidermolysis bullosa characterized by generalized blistering at birth with congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract and that has_material_basis_in mutations in the ITGB4 or ITGA6 genes. |
13 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:3209 | DOID:0060733 |
| is_a | DOID:0050737 | DOID:0060733 |
| is_a | DOID:630 | DOID:0060733 |
| is_a | DOID:8502 | DOID:0060733 |
| is_a | DOID:2731 | DOID:0060733 |
| is_a | DOID:0050177 | DOID:0060733 |
| is_a | DOID:2723 | DOID:0060733 |
| is_a | DOID:0050739 | DOID:0060733 |
| is_a | DOID:2730 | DOID:0060733 |
| is_a | DOID:7 | DOID:0060733 |
| is_a | DOID:37 | DOID:0060733 |
| is_a | DOID:4 | DOID:0060733 |
| is_a | DOID:16 | DOID:0060733 |
