Summary Literature (3)

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

In OMIM:

OMIM:312750 - RETT SYNDROME; RTT

OMIM:613454 - RETT SYNDROME, CONGENITAL VARIANT

In Mondo Disease Ontology:

MONDO:0010726 - Rett syndrome

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