loading...| Preferred Name | Spondyloepiphyseal dysplasia, congenita | |
| Synonyms |
Sed, Congenital Type Spondyloepiphyseal Dysplasia Congenita SED Congenita Spondyloepiphyseal dysplasia, congenital type |
|
| ID |
http://purl.bioontology.org/ontology/MESH/C535788 |
|
| altLabel |
Sed, Congenital Type Spondyloepiphyseal Dysplasia Congenita SED Congenita Spondyloepiphyseal dysplasia, congenital type |
|
| cui |
C2745959 |
|
| Has mapping qualifier | ||
| HM |
D010009/Q000151 |
|
| Inverse of RB |
0 |
|
| Mapped to | ||
| MDA |
20100825 |
|
| MeSH Frequency |
49 |
|
| MMR |
20150927 |
|
| notation |
C535788 |
|
| prefLabel |
Spondyloepiphyseal dysplasia, congenita |
|
| SC |
3 |
|
| Scope Statement |
An autosomal dominant osteochondrodysplasia characterized by disproportionate short stature (short trunk), abnormal EPIPHYSES, and flattened vertebral bodies. Skeletal features are manifested at birth and evolve with time. Other features include MYOPIA and/or RETINAL DEGENERATION with RETINAL DETACHMENT and CLEFT PALATE. Mutations in the COL2A1 gene have been identified. OMIM: 183900 |
|
| TERMUI |
T737240 T825791 T842532 T810626 T737243 |
|
| TH |
OMIM (2013) GHR (2014) ORD (2010) |
|
| tui |
T019 |