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:161 | keratosis | A skin disease characterized_by growth of keratin on the skin or mucous membranes. |
| DOID:0050735 | X-linked monogenic disease | A monogenic disease that has_material_basis_in mutations in genes on the X chromosome. |
| DOID:0080012 | X-linked recessive disease | A X-linked monogenic disease that has_material_basis_in recessive inheritance. |
| 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:0112012 | X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques | A mutilating palmoplantar keratoderma with periorificial keratotic plaques that has_material_basis_in hemizygous mutation in the MBTPS2 gene on chromosome Xp22.12. |
10 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0080012 | DOID:0112012 |
| is_a | DOID:0112011 | DOID:0112012 |
| is_a | DOID:0050177 | DOID:0112012 |
| is_a | DOID:630 | DOID:0112012 |
| is_a | DOID:16 | DOID:0112012 |
| is_a | DOID:7 | DOID:0112012 |
| is_a | DOID:0050735 | DOID:0112012 |
| is_a | DOID:161 | DOID:0112012 |
| is_a | DOID:4 | DOID:0112012 |
| is_a | DOID:37 | DOID:0112012 |
