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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
- MeSH
- UMLS
- NCI Thesaurus
- OMIM
- 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
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 3897 | L1CAM | L1 cell adhesion molecule | |
| 5048 | PAFAH1B1 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | |
| 7915 | ALDH5A1 | aldehyde dehydrogenase 5 family member A1 | |
| 7957 | EPM2A | EPM2A glucan phosphatase, laforin | |
| 8789 | FBP2 | fructose-bisphosphatase 2 | |
| 8869 | ST3GAL5 | ST3 beta-galactoside alpha-2,3-sialyltransferase 5 | |
| 9370 | ADIPOQ | adiponectin, C1Q and collagen domain containing | |
| 22854 | NTNG1 | netrin G1 | |
| 22933 | SIRT2 | sirtuin 2 | |
| 23600 | AMACR | alpha-methylacyl-CoA racemase |
Related Glycoprotein
- The Human Phenotype Ontology
| 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 |
