9 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:0050735 | X-linked monogenic disease | A monogenic disease that has_material_basis_in mutations in genes on the X chromosome. |
DOID:10123 | pigmentation disease | A skin disease that is characterized by discoloration of the skin. |
DOID:0111834 | X-linked reticulate pigmentary disorder | A pigmentation disease characterized by early onset of recurrent respiratory infections, failure to thrive resulting from inflammatory gastroenteritis or colitis, and reticular pigmentation abnormalities of the skin in hemizygous males and only pigmentary abnormalities along the lines of Blaschko in heterozygous females that has_material_basis_in mutation in the POLA1 gene on chromosome Xp22.1-p21.3. |
8 Relations
Relationship |
Parent Term . Identifier |
Child Term . Identifier |
---|---|---|
is_a | DOID:0050735 | DOID:0111834 |
is_a | DOID:10123 | DOID:0111834 |
is_a | DOID:4 | DOID:0111834 |
is_a | DOID:7 | DOID:0111834 |
is_a | DOID:16 | DOID:0111834 |
is_a | DOID:37 | DOID:0111834 |
is_a | DOID:0050177 | DOID:0111834 |
is_a | DOID:630 | DOID:0111834 |