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: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: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:14735 | hereditary angioedema | An angioedema that is characterized by recurrent episodes of severe swelling of the skin and mucous membranes. |
| DOID:0080939 | hereditary angioedema type I | A hereditrary angioedema that has_material_basis_in heterozygous mutation in the C1 inhibitor gene (C1NH, SERPING1) on chromosome 11q. |
| DOID:1558 | angioedema | A skin disease characterized by one or more areas of well-demarcated, non-pitting edema of deep subcutaneous tissues. |
11 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:14735 | DOID:0080939 |
| is_a | DOID:0050737 | DOID:0080939 |
| is_a | DOID:4 | DOID:0080939 |
| is_a | DOID:37 | DOID:0080939 |
| is_a | DOID:16 | DOID:0080939 |
| is_a | DOID:7 | DOID:0080939 |
| is_a | DOID:0050736 | DOID:0080939 |
| is_a | DOID:630 | DOID:0080939 |
| is_a | DOID:0050739 | DOID:0080939 |
| is_a | DOID:0050177 | DOID:0080939 |
| is_a | DOID:1558 | DOID:0080939 |
