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: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:0112280 | spondyloepiphyseal dysplasia | An osteochondrodysplasia characterized by skeletal dysplasia mainly involving the spine and proximal epiphyses resulting in shortening of the trunk and limbs. |
| DOID:0112281 | spondyloepiphyseal dysplasia Stanescu type | A spondyloepiphyseal dysplasia characterized by accumulation of glycoprotein in chondrocytes, progressive joint contracture with premature degenerative joint disease, generalized platyspondyly, hypoplastic pelvis, epiphyseal flattening with metaphyseal splaying of the long bones, and enlarged phalangeal epimetaphyses of the hands that has_material_basis_in heterozygous mutation in COL2A1 on chromosome 12q13.11. |
13 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0112280 | DOID:0112281 |
| is_a | DOID:0050736 | DOID:0112281 |
| is_a | DOID:4 | DOID:0112281 |
| is_a | DOID:17 | DOID:0112281 |
| is_a | DOID:65 | DOID:0112281 |
| is_a | DOID:0080006 | DOID:0112281 |
| is_a | DOID:0050177 | DOID:0112281 |
| is_a | DOID:0080001 | DOID:0112281 |
| is_a | DOID:630 | DOID:0112281 |
| is_a | DOID:2256 | DOID:0112281 |
| is_a | DOID:1222 | DOID:0112281 |
| is_a | DOID:7 | DOID:0112281 |
| is_a | DOID:0050739 | DOID:0112281 |
