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Summary Literature (4)
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: cerebroatrophic hyperammonemia, Rett's disorder

Xenbase Genes : foxg1, mecp2, cdkl5

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0010726 - Rett syndrome

MIM:
MIM:312750 - RETT SYNDROME; RTT
MIM:613454 - RETT SYNDROME, CONGENITAL VARIANT

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): pervasive developmental disorder (is_a)