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Summary Literature (2)
DOID:1206 - Rett syndrome


Disease Ontology Definition:A pervasive developmental disease that is characterized by normal early growth and development followed by a slowing of development, loss of purposeful use of the hands, distinctive hand movements, slowed brain and head growth, problems with walking, seizures, and intellectual disability.

Synonyms: Rett's disorder; cerebroatrophic hyperammonemia

Referenced OMIM:
OMIM:312750 - RETT SYNDROME; RTT
OMIM:613454 - RETT SYNDROME, CONGENITAL VARIANT

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : foxg1, mecp2, cdkl5

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): pervasive developmental disorder (is_a)


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