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: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:0050737 | autosomal recessive disease | An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop. |
| 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:0081368 | Paget's disease of bone 5 | A Paget's disease of bone that is characterized by short stature, progressive long bone deformities, fractures, vertebral collapse, skull enlargement, and hyperostosis with progressive deafness and that has_material_basis_in osteoprotegerin deficiency caused by homozygous or compound heterozygous mutation in the TNFRSF11B gene on chromosome 8q24. |
12 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:5408 | DOID:0081368 |
| is_a | DOID:0050737 | DOID:0081368 |
| is_a | DOID:630 | DOID:0081368 |
| is_a | DOID:0080005 | DOID:0081368 |
| is_a | DOID:65 | DOID:0081368 |
| is_a | DOID:0050177 | DOID:0081368 |
| is_a | DOID:7 | DOID:0081368 |
| is_a | DOID:4 | DOID:0081368 |
| is_a | DOID:17 | DOID:0081368 |
| is_a | DOID:205 | DOID:0081368 |
| is_a | DOID:0080001 | DOID:0081368 |
| is_a | DOID:0050739 | DOID:0081368 |
