17 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:0060564 | spinal disease | A bone disease that is located_in the spine. |
| 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: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:0050737 | autosomal recessive disease | An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop. |
| 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:0080027 | spondyloepimetaphyseal dysplasia | An osteochondrodysplasia that results_in abnormalities of bone growth located_in vertebral column, located_in epiphysis, located_in metaphysis. |
| DOID:0111167 | Dyggve-Melchior-Clausen disease | A spondyloepimetaphyseal dysplasia characterized by clawed fingers, platyspondyly of the spine, abnormalities of the iliac crest, intellectual disability and mucopolysaccharide in the urine that has_material_basis_in homozygous or compound heterozygous mutation in the DYM gene on chromosome 18q21. |
| DOID:0060247 | Smith-McCort dysplasia | A Dyggve-Melchior-Clausen disease that is characterized by short limbs and a short trunk with a barrel-shaped chest. |
| DOID:0081271 | Smith-McCort dysplasia 2 | A Smith-McCort dysplasia that is characterized by short trunk dwarfism with a barrel-shaped chest, rhizomelic limb shortening and that has_material_basis_in homozygous or compound heterozygous mutation in the RAB33B gene on chromosome 4q31. |
16 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0060247 | DOID:0081271 |
| is_a | DOID:0050737 | DOID:0081271 |
| is_a | DOID:0050739 | DOID:0081271 |
| is_a | DOID:1222 | DOID:0081271 |
| is_a | DOID:2256 | DOID:0081271 |
| is_a | DOID:0050177 | DOID:0081271 |
| is_a | DOID:630 | DOID:0081271 |
| is_a | DOID:4 | DOID:0081271 |
| is_a | DOID:17 | DOID:0081271 |
| is_a | DOID:7 | DOID:0081271 |
| is_a | DOID:0060564 | DOID:0081271 |
| is_a | DOID:0080001 | DOID:0081271 |
| is_a | DOID:0111167 | DOID:0081271 |
| is_a | DOID:0080006 | DOID:0081271 |
| is_a | DOID:0080027 | DOID:0081271 |
| is_a | DOID:65 | DOID:0081271 |
