9 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: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:0050581 | brachydactyly | A dysostosis characterized by short fingers and toes. |
| DOID:0110976 | brachydactyly type E2 | A characterized byautosomal dominant inheritance of short stature, tooth abnormalities, and short metacarpals and metatarsals that has_material_basis_in heterozygous mutation in the PTHLH gene on chromosome 12p. |
8 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0050581 | DOID:0110976 |
| is_a | DOID:4 | DOID:0110976 |
| is_a | DOID:1934 | DOID:0110976 |
| is_a | DOID:7 | DOID:0110976 |
| is_a | DOID:17 | DOID:0110976 |
| is_a | DOID:0080006 | DOID:0110976 |
| is_a | DOID:0080001 | DOID:0110976 |
| is_a | DOID:65 | DOID:0110976 |
