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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 **21 - 30** of 50 in total

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HPO ID	HPO Term
HP:0002300	Mutism
HP:0002353	EEG abnormality
HP:0002360	Sleep abnormality
HP:0002371	Loss of speech
HP:0002376	Developmental regression
HP:0002505	Loss of ambulation
HP:0002540	Inability to walk
HP:0002650	Scoliosis
HP:0002793	Abnormal pattern of respiration
HP:0002808	Kyphosis