Id http://purl.bioontology.org/ontology/CSP/4001-0114
http://purl.bioontology.org/ontology/CSP/4001-0114
Preferred Name

Rett syndrome

Definitions
progressive disorder affecting the cerebral cortex of females; present from birth; manifested by autistic behavior, ataxia, dementia, seizures, loss of purposeful usefulness of the hands, cerebral atrophy, and mild hyperammonemia.
Synonyms
cerebroatrophic hyperammonemia
Type http://www.w3.org/2002/07/owl#Class
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