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PLOS Thesaurus
Last uploaded:
September 21, 2017
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| Id | http://localhost/plosthes.2017-1#3034
http://localhost/plosthes.2017-1#3034
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| Preferred Name | Rett syndrome |
| Type | http://www.w3.org/2004/02/skos/core#Concept |
All Properties
| prefLabel | Rett syndrome
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| type | |
| Previous_Classification | 10.200.260.60.10.10.50^Rett syndrome|10.350.70.10.20^Rett syndrome|60.50.110.50^Rett syndrome|110.90.70.10.20^Rett syndrome
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| alpha | Rett syndrome
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| Synopsis_DBPedia | Rett syndrome, originally termed as cerebroatrophic hyperammonemia, is a rare genetic postnatal neurological disorder of the grey matter of the brain that almost exclusively affects females but has also been found in male patients. The clinical features include small hands and feet and a deceleration of the rate of head growth (including microcephaly in some). Repetitive stereotyped hand movements, such as wringing and/or repeatedly putting hands into the mouth, are also noted.
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| broader | |
| status | Accepted
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| Synonym | |
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