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Last uploaded:
September 25, 2013
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| Id | http://purl.bioontology.org/ontology/CSP/1849-0171
http://purl.bioontology.org/ontology/CSP/1849-0171
|
|---|---|
| Preferred Name | achondroplasia |
| 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.
|
| Synonyms |
chondrodystrophia fetalis calcificans
fetal rickets
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| 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. |
|---|---|
| altLabel |
chondrodystrophia fetalis calcificans
fetal rickets
|
| prefLabel |
achondroplasia
|
| DID |
1849-0171
|
| notation |
1849-0171
|
| Inverse of RB | |
| Inverse of RO | |
| subClassOf | |
| Semantic type UMLS property | |
| type | |
| tui |
T047
T019
|
| cui |
C0242080
C0001080
C0597737
|
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