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: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:0050736 | autosomal dominant disease | An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease. |
| 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:11971 | synostosis | A dysostosis that results_in abnormal fusing of adjacent bones. |
| DOID:1934 | dysostosis | A bone development disease that results in defective ossification of bone. |
| DOID:11193 | syndactyly | A synostosis that results_in the fusion of two or more digits. |
| DOID:0111818 | syndactyly type 4 | A syndactyly characterized by complete bilateral syndactyly involving all digits 1 to 5 that has_material_basis_in heterozygous mutation of a SHH regulatory element in intron 5 of the LMBR1 gene on chromosome 7q36.3. |
13 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:11193 | DOID:0111818 |
| is_a | DOID:0050736 | DOID:0111818 |
| is_a | DOID:0050177 | DOID:0111818 |
| is_a | DOID:630 | DOID:0111818 |
| is_a | DOID:0080006 | DOID:0111818 |
| is_a | DOID:1934 | DOID:0111818 |
| is_a | DOID:0050739 | DOID:0111818 |
| is_a | DOID:65 | DOID:0111818 |
| is_a | DOID:11971 | DOID:0111818 |
| is_a | DOID:7 | DOID:0111818 |
| is_a | DOID:0080001 | DOID:0111818 |
| is_a | DOID:4 | DOID:0111818 |
| is_a | DOID:17 | DOID:0111818 |
