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:0112288 | spondyloepiphyseal dysplasia Nishimura type | A spondyloepiphyseal dysplasia characterized by disproportionate short stature with short limbs, small hands and feet, midface hypoplasia with a small nose, mild spondylar dysplasia, delayed epiphyseal ossification of the hip and knee, and severe brachydactyly with cone-shaped phalangeal epiphyses that has_material_basis_in heterozygous gain-of-function mutation in the MIR140 gene on chromosome 16q22.1. |
13 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0050736 | DOID:0112288 |
| is_a | DOID:0112280 | DOID:0112288 |
| is_a | DOID:0080006 | DOID:0112288 |
| is_a | DOID:0050177 | DOID:0112288 |
| is_a | DOID:630 | DOID:0112288 |
| is_a | DOID:65 | DOID:0112288 |
| is_a | DOID:2256 | DOID:0112288 |
| is_a | DOID:1222 | DOID:0112288 |
| is_a | DOID:0050739 | DOID:0112288 |
| is_a | DOID:0080001 | DOID:0112288 |
| is_a | DOID:7 | DOID:0112288 |
| is_a | DOID:4 | DOID:0112288 |
| is_a | DOID:17 | DOID:0112288 |
