11 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:161 | keratosis | A skin disease characterized_by growth of keratin on the skin or mucous membranes. |
| DOID:0112011 | mutilating palmoplantar keratoderma with periorificial keratotic plaques | A keratosis characterized by a bilateral mutilating palmoplantar keratoderma and periorificial keratotic plaques with severe pruritus of lesions. |
| DOID:0112013 | autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques | A mutilating palmoplantar keratoderma with periorificial keratotic plaques that has_material_basis_in heterozygous mutation in the TRPV3 gene on chromosome 17p13.2. |
10 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0112011 | DOID:0112013 |
| is_a | DOID:0050736 | DOID:0112013 |
| is_a | DOID:0050177 | DOID:0112013 |
| is_a | DOID:630 | DOID:0112013 |
| is_a | DOID:0050739 | DOID:0112013 |
| is_a | DOID:37 | DOID:0112013 |
| is_a | DOID:16 | DOID:0112013 |
| is_a | DOID:7 | DOID:0112013 |
| is_a | DOID:4 | DOID:0112013 |
| is_a | DOID:161 | DOID:0112013 |
