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Joubert syndrome
Summary
- Synonym
-
- JBTS
- Definition
- A ciliopathy that is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.
- Super Class
- brain disease ciliopathy
External Links
- Disease Ontology
- DOID:0050777
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
- WikiPathways (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 412 | STS | steroid sulfatase | |
| 523 | ATP6V1A | ATPase H+ transporting V1 subunit A | |
| 1605 | DAG1 | dystroglycan 1 | |
| 1718 | DHCR24 | 24-dehydrocholesterol reductase | |
| 1743 | DLST | dihydrolipoamide S-succinyltransferase | |
| 2218 | FKTN | fukutin | |
| 2998 | GYS2 | glycogen synthase 2 | |
| 3339 | HSPG2 | heparan sulfate proteoglycan 2 | |
| 3633 | INPP5B | inositol polyphosphate-5-phosphatase B | |
| 5048 | PAFAH1B1 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 |
Related Glycoprotein
