14 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:225 | syndrome | A disease characterized by a group of signs and symptoms that occur together and characterize a particular abnormality. |
| 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:0080015 | physical disorder | A disease that has_material_basis_in a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment. |
| 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:10426 | Klippel-Feil syndrome | A physical disorder that is characterized by abnormal segmentation of the vertebra during fetal development which results in fusion located in cervical vertebra. |
| DOID:0080592 | Klippel-Feil syndrome 4 | A Klippel-Feil syndrome that has_material_basis_in homozygous mutation in the MYO18B gene on chromosome 22q12. |
13 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:10426 | DOID:0080592 |
| is_a | DOID:0050737 | DOID:0080592 |
| is_a | DOID:0060564 | DOID:0080592 |
| is_a | DOID:4 | DOID:0080592 |
| is_a | DOID:0080001 | DOID:0080592 |
| is_a | DOID:630 | DOID:0080592 |
| is_a | DOID:17 | DOID:0080592 |
| is_a | DOID:225 | DOID:0080592 |
| is_a | DOID:7 | DOID:0080592 |
| is_a | DOID:0050739 | DOID:0080592 |
| is_a | DOID:0080015 | DOID:0080592 |
| is_a | DOID:65 | DOID:0080592 |
| is_a | DOID:0050177 | DOID:0080592 |
