13 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: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:0080005 | bone remodeling disease | A bone disease that results_in formation or resorption abnormalities located_in bone. |
| DOID:205 | hyperostosis | A bone remodeling disease that results in an abnormal growth of located in bone. |
| DOID:5408 | Paget's disease of bone | A bone formation disease that has_material_basis_in hyperactive osteoclast which results_in abnormal osteoblast bone formation located_in skull, located_in pelvis, located_in vertebral column, located_in set of limbs. |
| DOID:0081365 | Paget's disease of bone 2 | A Paget's disease of bone that has_material_basis_in heterozygous mutation in the TNFRSF11A gene, which encodes RANK, on chromosome 18q21. |
12 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:5408 | DOID:0081365 |
| is_a | DOID:0050736 | DOID:0081365 |
| is_a | DOID:630 | DOID:0081365 |
| is_a | DOID:65 | DOID:0081365 |
| is_a | DOID:4 | DOID:0081365 |
| is_a | DOID:17 | DOID:0081365 |
| is_a | DOID:0080001 | DOID:0081365 |
| is_a | DOID:0050739 | DOID:0081365 |
| is_a | DOID:7 | DOID:0081365 |
| is_a | DOID:205 | DOID:0081365 |
| is_a | DOID:0080005 | DOID:0081365 |
| is_a | DOID:0050177 | DOID:0081365 |
