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:17 | musculoskeletal system disease | A disease of anatomical entity that occurs in the muscular and/or skeletal system. |
| DOID:0080001 | bone disease | A connective tissue disease that affects the structure or development of bone or causes an impairment of normal bone function. |
| DOID:65 | connective tissue disease | A musculoskeletal system disease that affects tissues such as skin, tendons, and cartilage. |
| DOID:630 | genetic disease | A disease that has_material_basis_in genetic variations in the human genome. |
| DOID:10609 | rickets | A bone remodeling disease that has_material_basis_in impaired mineralization or calcification of bones before epiphyseal closure due to deficiency or impaired metabolism of vitamin D, phosphorus or calcium which results_in softening and deformity located_in bone. |
| DOID:0080005 | bone remodeling disease | A bone disease that results_in formation or resorption abnormalities located_in bone. |
| DOID:0080578 | digenic disease | A polygenic disease that is characterized by expression of a phenotype that requires the presence of pathogenic variants in two different genes. |
| DOID:0080577 | polygenic disease | A genetic disease that is characterized by the additive contributions of variants in multiple genes at different loci. |
| DOID:0050947 | hereditary hypophosphatemic rickets with hypercalciuria | A rickets that has_material_basis_in increased serum 1,25-dihydroxyvitamin D levels and increased intestinal calcium absorption and is characterized by the presence of hypophosphatemia secondary to renal phosphate wasting, radiographic and/or histologic evidence of rickets, limb deformities, muscle weakness, and bone pain. |
10 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:10609 | DOID:0050947 |
| is_a | DOID:0080578 | DOID:0050947 |
| is_a | DOID:4 | DOID:0050947 |
| is_a | DOID:630 | DOID:0050947 |
| is_a | DOID:17 | DOID:0050947 |
| is_a | DOID:7 | DOID:0050947 |
| is_a | DOID:0080001 | DOID:0050947 |
| is_a | DOID:0080005 | DOID:0050947 |
| is_a | DOID:0080577 | DOID:0050947 |
| is_a | DOID:65 | DOID:0050947 |
