Preferred Name |
Achondroplasia |
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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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