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 7
Summary
- Synonym
-
- JBTS7
- Definition
- A Joubert syndrome that has_material_basis_in mutation in the RPGRIP1L gene on chromosome 16q12.2.
- Super Class
- Joubert syndrome
External Links
- Disease Ontology
- DOID:0111002
- Mondo Disease Ontology
- MeSH
- OMIM
- MGI genotype (from TogoID)
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000426 | Prominent nasal bridge |
| HP:0001337 | Tremor |
| HP:0002553 | Highly arched eyebrow |
| HP:0001161 | Hand polydactyly |
| HP:0008872 | Feeding difficulties in infancy |
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum |
| HP:0030680 | Abnormal cardiovascular system morphology |
