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:0080006 | bone development disease | A bone disease that results_in abnormal growth and development located_in bone or located_in cartilage. |
| DOID:2256 | osteochondrodysplasia | A bone development disease that results_in defective development of cartilage or bone. |
| DOID:1222 | cartilage disease | A connective tissue disease that is located_in cartilage. |
| DOID:0070305 | multiple epiphyseal dysplasia due to collagen 9 anomaly | A multiple epiphyseal dysplasia that has_material_basis_in mutation in any of the members of the COL9A gene family (COL9A1, COL9A2, COL9A3). |
| DOID:12721 | multiple epiphyseal dysplasia | An osteochondrodysplasia that has_material_basis_in defective cartilage mineralization into bone which results in irregular ossification centers of the located in hip or located in knee. The disease has symptom fatigue, has symptom joint pain. |
14 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0070305 | DOID:0070298 |
| is_a | DOID:0070305 | DOID:0070301 |
| is_a | DOID:0070305 | DOID:0070304 |
| is_a | DOID:12721 | DOID:0070305 |
| is_a | DOID:0050177 | DOID:0070305 |
| is_a | DOID:0080006 | DOID:0070305 |
| is_a | DOID:2256 | DOID:0070305 |
| is_a | DOID:1222 | DOID:0070305 |
| is_a | DOID:0080001 | DOID:0070305 |
| is_a | DOID:65 | DOID:0070305 |
| is_a | DOID:7 | DOID:0070305 |
| is_a | DOID:630 | DOID:0070305 |
| is_a | DOID:4 | DOID:0070305 |
| is_a | DOID:17 | DOID:0070305 |
