Preferred Name |
Achondroplasia |
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Synonyms |
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ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Achondroplasia |
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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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label |
Achondroplasia |
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prefixIRI |
Thesaurus:Achondroplasia |
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prefLabel |
Achondroplasia |
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subClassOf |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Non-Neoplastic_Bone_Disorder |
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