Preferred Name | Achondroplasia | |
Synonyms |
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ID |
http://localhost/plosthes.2017-1#11376 |
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alpha |
Achondroplasia |
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broader | ||
homepage | ||
prefLabel |
Achondroplasia |
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Previous_Classification |
10.170.170.20.50.10^Achondroplasia|60.80.10.50.10^Achondroplasia|60.80.30.10^Achondroplasia |
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scopeNote |
Achondroplasia is a form of short-limbed dwarfism. The word achondroplasia literally means "without cartilage formation." Cartilage is a tough but flexible tissue that makes up much of the skeleton during early development. However, in achondroplasia the problem is not in forming cartilage but in converting it to bone (a process called ossification), particularly in the long bones of the arms and legs. Achondroplasia is similar to another skeletal disorder called hypochondroplasia, but the features of achondroplasia tend to be more severe. http://ghr.nlm.nih.gov/condition=achondroplasia RD |
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status |
Accepted |