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:0060564 | spinal disease | A bone disease that is located_in the spine. |
| 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:0080006 | bone development disease | A bone disease that results_in abnormal growth and development located_in bone or located_in cartilage. |
| DOID:1934 | dysostosis | A bone development disease that results in defective ossification of bone. |
| DOID:0050568 | spondylocostal dysostosis | A dysostosis that results_in abnormal development located_in vertebrae or located_in ribs. The bones of the spine do not develop properly, which causes them to be misshapen and abnormally joined together. |
| DOID:0112363 | spondylocostal dysostosis 5 | A spondylocostal dysostosis that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the TBX6 gene on chromosome 16p11.2. |
12 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0050568 | DOID:0112363 |
| is_a | DOID:0050739 | DOID:0112363 |
| is_a | DOID:0050177 | DOID:0112363 |
| is_a | DOID:65 | DOID:0112363 |
| is_a | DOID:630 | DOID:0112363 |
| is_a | DOID:0080006 | DOID:0112363 |
| is_a | DOID:1934 | DOID:0112363 |
| is_a | DOID:0060564 | DOID:0112363 |
| is_a | DOID:17 | DOID:0112363 |
| is_a | DOID:0080001 | DOID:0112363 |
| is_a | DOID:7 | DOID:0112363 |
| is_a | DOID:4 | DOID:0112363 |
