Preferred Name |
achondroplasia |
|
Synonyms |
chondrodystrophia fetalis calcificans fetal rickets |
|
Definitions |
autosomal dominant disorder that is the most frequent form of short-limb dwarfism; a disturbance of epiphyseal chondroblastic growth, causing inadequate enchondral bone formation. |
|
ID |
http://purl.bioontology.org/ontology/CSP/1849-0171 |
|
altLabel |
chondrodystrophia fetalis calcificans fetal rickets |
|
cui |
C0242080 C0001080 C0597737 |
|
definition |
autosomal dominant disorder that is the most frequent form of short-limb dwarfism; a disturbance of epiphyseal chondroblastic growth, causing inadequate enchondral bone formation. |
|
DID |
1849-0171 |
|
Inverse of RB |
http://purl.bioontology.org/ontology/CSP/2715-1516 |
|
Inverse of RO | ||
notation |
1849-0171 |
|
prefLabel |
achondroplasia |
|
tui |
T047 T019 |
|
subClassOf |
http://purl.bioontology.org/ontology/CSP/2715-1516 |
Create mapping