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 / Organisms
Joubert syndrome 1
Summary
- Synonym
-
- CORS1
- CPD4
- JBTS1
- cerebellooculorenal syndrome 1
- cerebelloparenchymal disorder IV
- Definition
- A Joubert syndrome that has_material_basis_in homozygous mutation in the INPP5E gene on chromosome 9q34.
- Super Class
- Joubert syndrome
External Links
- Disease Ontology
- DOID:0110980
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000158 | Macroglossia |
| HP:0000252 | Microcephaly |
| HP:0000256 | Macrocephaly |
| HP:0000286 | Epicanthus |
| HP:0000543 | Optic disc pallor |
| HP:0000556 | Retinal dystrophy |
| HP:0000567 | Chorioretinal coloboma |
| HP:0000570 | Abnormal saccadic eye movements |
| HP:0000588 | Optic disc coloboma |
| HP:0000617 | Abnormality of ocular smooth pursuit |
