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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 |
|---|---|---|---|
| 246 | ALOX15 | arachidonate 15-lipoxygenase | |
| 414 | ARSD | arylsulfatase D | |
| 847 | CAT | catalase | |
| 1103 | CHAT | choline O-acetyltransferase | |
| 2026 | ENO2 | enolase 2 | |
| 2203 | FBP1 | fructose-bisphosphatase 1 | |
| 2348 | FOLR1 | folate receptor alpha | |
| 2350 | FOLR2 | folate receptor beta | |
| 3029 | HAGH | hydroxyacylglutathione hydrolase | |
| 3251 | HPRT1 | hypoxanthine phosphoribosyltransferase 1 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P51689 | Arylsulfatase D | |
| Q16775 | Hydroxyacylglutathione hydrolase, mitochondrial | |
| Q9UNP4 | Lactosylceramide alpha-2,3-sialyltransferase | |
| Q9Y2I2 | Netrin-G1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002876 | Episodic tachypnea |
| HP:0002882 | Sudden episodic apnea |
| HP:0003763 | Bruxism |
| HP:0003808 | Abnormal muscle tone |
| HP:0004302 | Functional motor deficit |
| HP:0004305 | Involuntary movements |
| HP:0005484 | Secondary microcephaly |
| HP:0007281 | Developmental stagnation |
| HP:0007328 | Impaired pain sensation |
| HP:0007824 | Total ophthalmoplegia |
