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:4959 | epidermolysis bullosa dystrophica | An epidermolysis bullosa that is characterized by formation of recurrent blisters secondary to minor trauma in the skin and mucosa, especially in the hands, feet, knees, and elbows, and has_material_basis_in mutation in COL7A1 gene, which encodes a protein that assists assembly of type VII collagen. |
| 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:0111345 | transient bullous dermolysis of the newborn | An epidermolysis bullosa dystrophica characterized by generalized blistering at birth that usually regresses by 6 to 24 months of age that has_material_basis_in heterozygous, compound heterozygous or homozygous mutation in COL7A1 on chromosome 3p21.31. |
13 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:4959 | DOID:0111345 |
| is_a | DOID:0050737 | DOID:0111345 |
| is_a | DOID:0050739 | DOID:0111345 |
| is_a | DOID:2730 | DOID:0111345 |
| is_a | DOID:2731 | DOID:0111345 |
| is_a | DOID:16 | DOID:0111345 |
| is_a | DOID:8502 | DOID:0111345 |
| is_a | DOID:630 | DOID:0111345 |
| is_a | DOID:7 | DOID:0111345 |
| is_a | DOID:0050177 | DOID:0111345 |
| is_a | DOID:4 | DOID:0111345 |
| is_a | DOID:37 | DOID:0111345 |
| is_a | DOID:2723 | DOID:0111345 |
