loading...| Preferred Name |
Spondyloepiphyseal dysplasia, congenita |
| Synonyms |
SED Congenita |
| ID |
http://purl.bioontology.org/ontology/MESH/C535788 |
| altLabel |
SED Congenita Sed, Congenital Type Spondyloepiphyseal dysplasia, congenital type Spondyloepiphyseal Dysplasia Congenita |
| 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 |
T842532 T737243 T825791 T810626 T737240 |
| TH |
ORD (2010) OMIM (2013) GHR (2014) |
| tui |
T019 |