Jump to:
loading...| Preferred Name | Achondroplasia [Disease/Finding] | |
| Synonyms |
Achondroplasia |
|
| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000000281 |
|
| altLabel |
Achondroplasia |
|
| cui |
C0001080 |
|
| MESH DEFINITION |
An autosomal dominant disorder that is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and mid-face hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, GENU VARUM, and trident hand. (Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim, MIM#100800, April 20, 2001) |
|
| MESH DUI |
D000130 |
|
| MeSH name |
Achondroplasia |
|
| MESH UI |
M0000205 |
|
| NDFRT kind |
DISEASE_KIND |
|
| notation |
N0000000281 |
|
| NUI |
N0000000281 |
|
| prefLabel |
Achondroplasia [Disease/Finding] |
|
| SNOMED CID |
86268005 |
|
| tui |
T019 |
|
| subClassOf |
Create mapping