Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / OrganismsTools
SugarDrawer
GlycanBuilder
Glycan Converters
GlycoMaple
GlycomeAtlas
LM-GlycomeAtlas
GALAXY
MCAW
GlycoSim
GRable
Guidelines
MIRAGE
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
- MeSH
- UMLS
- NCI Thesaurus
- GARD
- MGI genotype (from TogoID)
-
- 5806112
- 5491051
- 5529468
- 5538526
- 5568994
- 5568998
- 5584025
- 5702941
- 5702951
- 5702952
- 5751707
- 5751716
- 5491041
- 6098752
- 6098753
- 6098754
- 6098756
- 6357214
- 6472629
- 7266261
- 7266266
- 7266283
- 7266284
- 3712286
- 3624553
- 3624554
- 3624674
- 3624676
- 3624680
- 3624685
- 3624713
- 3624717
- 3624718
- 3624719
- 3624551
- 3801487
- 3801488
- 3817230
- 3817461
- 3817462
- 4949888
- 5306241
- 5306255
- 5310735
- 5491040
- WikiPathways (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O76039 | Cyclin-dependent kinase-like 5 | |
| P51608 | Methyl-CpG-binding protein 2 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9Z2D6 | Methyl-CpG-binding protein 2 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q00566 | Methyl-CpG-binding protein 2 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0011344 | Severe global developmental delay |
| HP:0011968 | Feeding difficulties |
| HP:0012171 | Stereotypical hand wringing |
| HP:0012332 | Abnormal autonomic nervous system physiology |
| HP:0012469 | Infantile spasms |
| HP:0012719 | Functional abnormality of the gastrointestinal tract |
| HP:0012760 | Reduced social reciprocity |
| HP:0100703 | Tongue thrusting |
| HP:0100022 | Abnormality of movement |
| HP:0200055 | Small hand |
