Rett syndrome

Summary

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,

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: foxg1, mecp2, cdkl5

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0010726 - Rett syndrome

MONDO:0010726 - Rett syndrome

OMIM:

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

OMIM:312750 - RETT SYNDROME; RTT

OMIM:613454 - RETT SYNDROME, CONGENITAL VARIANT

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): pervasive developmental disorder (is_a)