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: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: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: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:0080012 | X-linked recessive disease | A X-linked monogenic disease that has_material_basis_in recessive inheritance. |
| DOID:0080353 | X-linked recessive hypophosphatemic rickets | A rickets that has_material_basis_in mutation in the CLCN5 gene on chromosome Xp11.22. |
11 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:10609 | DOID:0080353 |
| is_a | DOID:0080012 | DOID:0080353 |
| is_a | DOID:630 | DOID:0080353 |
| is_a | DOID:65 | DOID:0080353 |
| is_a | DOID:0050735 | DOID:0080353 |
| is_a | DOID:4 | DOID:0080353 |
| is_a | DOID:17 | DOID:0080353 |
| is_a | DOID:0080001 | DOID:0080353 |
| is_a | DOID:7 | DOID:0080353 |
| is_a | DOID:0080005 | DOID:0080353 |
| is_a | DOID:0050177 | DOID:0080353 |
