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: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:11971 | synostosis | A dysostosis that results_in abnormal fusing of adjacent bones. |
| DOID:2340 | craniosynostosis | A synostosis that results_in premature fusion located_in skull. |
| DOID:1934 | dysostosis | A bone development disease that results in defective ossification of bone. |
| DOID:0080578 | digenic disease | A polygenic disease that is characterized by expression of a phenotype that requires the presence of pathogenic variants in two different genes. |
| DOID:0080577 | polygenic disease | A genetic disease that is characterized by the additive contributions of variants in multiple genes at different loci. |
| DOID:0060912 | craniosynostosis 7 | A craniosynostosis characterized by skull deformity and the inability of the skull's growth to keep up with the developing brain that has_material_basis_in a weakly penetrant heterozygous mutation in the SMAD6 gene on chromosome 15q22, typically with the risk allele of a common variant near the BMP2 gene on chromosome 20p12, resulting in potential intracranial pressure elevation. |
12 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0080578 | DOID:0060912 |
| is_a | DOID:2340 | DOID:0060912 |
| is_a | DOID:0080006 | DOID:0060912 |
| is_a | DOID:0080577 | DOID:0060912 |
| is_a | DOID:630 | DOID:0060912 |
| is_a | DOID:65 | DOID:0060912 |
| is_a | DOID:0080001 | DOID:0060912 |
| is_a | DOID:7 | DOID:0060912 |
| is_a | DOID:11971 | DOID:0060912 |
| is_a | DOID:4 | DOID:0060912 |
| is_a | DOID:17 | DOID:0060912 |
| is_a | DOID:1934 | DOID:0060912 |
