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:0050735 | X-linked monogenic disease | A monogenic disease that has_material_basis_in mutations in genes on the X chromosome. |
| DOID:0080006 | bone development disease | A bone disease that results_in abnormal growth and development located_in bone or located_in cartilage. |
| DOID:2256 | osteochondrodysplasia | A bone development disease that results_in defective development of cartilage or bone. |
| DOID:1222 | cartilage disease | A connective tissue disease that is located_in cartilage. |
| DOID:0080012 | X-linked recessive disease | A X-linked monogenic disease that has_material_basis_in recessive inheritance. |
| DOID:12347 | osteogenesis imperfecta | An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue. |
| DOID:0111847 | osteogenesis imperfecta type 19 | An osteogenesis imperfecta characterized by prenatal fractures and generalized osteopenia, with severe short stature in adulthood, variable scoliosis and pectal deformity, and marked anterior angulation of the tibia that has_material_basis_in hemizygous mutation in MBTPS2 on chromosome Xp22.12. |
13 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:12347 | DOID:0111847 |
| is_a | DOID:0080012 | DOID:0111847 |
| is_a | DOID:65 | DOID:0111847 |
| is_a | DOID:4 | DOID:0111847 |
| is_a | DOID:0050177 | DOID:0111847 |
| is_a | DOID:0080006 | DOID:0111847 |
| is_a | DOID:1222 | DOID:0111847 |
| is_a | DOID:17 | DOID:0111847 |
| is_a | DOID:0050735 | DOID:0111847 |
| is_a | DOID:7 | DOID:0111847 |
| is_a | DOID:630 | DOID:0111847 |
| is_a | DOID:0080001 | DOID:0111847 |
| is_a | DOID:2256 | DOID:0111847 |
