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Rett syndrome

Summary

Synonym

Rett's disorder
cerebroatrophic hyperammonemia

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.

Super Class

pervasive developmental disorder

External Links

Disease Ontology

DOID:1206

Mondo Disease Ontology

MONDO:0010726

MeSH

D015518

UMLS

C0035372

NCI Thesaurus

C75488

GARD

5696

MGI genotype (from TogoID)

WikiPathways (from TogoID)

Related Genes

Displaying **all 2** entries
Gene ID	Gene Symbol	Description	Source
4204	MECP2	methyl-CpG binding protein 2	Alliance of Genome Resources
6792	CDKL5	cyclin dependent kinase like 5	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
17257	Mecp2	methyl CpG binding protein 2	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
29386	Mecp2	methyl CpG binding protein 2	Alliance of Genome Resources

Related Glycoprotein

Displaying **all 2** entries
UniProt ID	Protein Name	Source
O76039	Cyclin-dependent kinase-like 5	Alliance of Genome Resources
P51608	Methyl-CpG-binding protein 2	Alliance of Genome Resources

Displaying 1 entry
UniProt ID	Protein Name	Source
Q9Z2D6	Methyl-CpG-binding protein 2	Alliance of Genome Resources

Displaying 1 entry
UniProt ID	Protein Name	Source
Q00566	Methyl-CpG-binding protein 2	Alliance of Genome Resources

The Human Phenotype Ontology

Displaying entries **1 - 10** of 50 in total

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HPO ID	HPO Term
HP:0000713	Agitation
HP:0000723	Restrictive behavior
HP:0000729	Autistic behavior
HP:0000748	Inappropriate laughter
HP:0000817	Reduced eye contact
HP:0001249	Intellectual disability
HP:0001250	Seizure
HP:0001252	Hypotonia
HP:0001256	Intellectual disability, mild
HP:0001257	Spasticity