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Pediatric Terminology
Last uploaded:
January 25, 2013
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| Preferred Name | Achondroplasia | |
| Synonyms |
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| ID |
http://www.owl-ontologies.com/Ontology1358660052.owl#Achondroplasia |
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| ID |
C34345
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| NCI_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. (MeSH)
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| NCI_PT |
Achondroplasia
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| NICHD_Definition |
_
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| prefixIRI |
Achondroplasia
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| prefLabel |
Achondroplasia
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| Subset_Association1 |
NICHD Pediatric Terminology
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| Subset_Association2 |
Neonatal Research Network Terminology
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| SYN | ||
| subClassOf |
http://www.owl-ontologies.com/Ontology1358660052.owl#Developmental_Disorder |
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