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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 |
|---|---|---|---|
| 29954 | POMT2 | protein O-mannosyltransferase 2 | |
| 50814 | NSDHL | NAD(P) dependent steroid dehydrogenase-like | |
| 51227 | PIGP | phosphatidylinositol glycan anchor biosynthesis class P | |
| 55624 | POMGNT1 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | |
| 56623 | INPP5E | inositol polyphosphate-5-phosphatase E | |
| 79147 | FKRP | fukutin related protein | |
| 84197 | POMK | protein O-mannose kinase | |
| 84892 | POMGNT2 | protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | |
| 148789 | B3GALNT2 | beta-1,3-N-acetylgalactosaminyltransferase 2 | |
| 160418 | TMTC3 | transmembrane O-mannosyltransferase targeting cadherins 3 |
Related Glycoprotein
