loading...| Preferred Name |
Pseudoachondroplasia |
| Synonyms |
Pseudoachondroplastic Spondyloepiphyseal Dysplasia Syndrome |
| ID |
http://purl.bioontology.org/ontology/MESH/C535819 |
| altLabel |
Pseudoachondroplastic Spondyloepiphyseal Dysplasia Syndrome Pseudoachondroplastic spondyloepiphyseal dysplasia Spondyloepiphyseal Dysplasia, Pseudoachondroplastic PSACH Pseudoachondroplastic dysplasia |
| cui |
C0410538 |
| HM |
D000130 |
| II |
D064236 |
| Inverse of RB |
0 |
| Mapped to | |
| MDA |
20100825 |
| MeSH Frequency |
45 |
| MMR |
20150818 |
| notation |
C535819 |
| prefLabel |
Pseudoachondroplasia |
| SC |
3 |
| Scope Statement |
A hereditary autosomal dominant form of achondroplasia characterized by dwarfism, lower limb abnormalities, BRACHYDACTYLY, loose joints, and ligamentous laxity. Vertebral anomalies usually resolve with age, but affected individuals develop severe OSTEOARTHRITIS. Muations in the COMP gene have been identified. OMIM: 177170 |
| TERMUI |
T737337 T737335 T801864 T844676 T737334 T842349 |
| TH |
ORD (2010) OMIM (2013) GHR (2014) |
| tui |
T019 |