Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Joubert syndrome 25
Summary
- Synonym
-
- JBTS25
- Definition
- A Joubert syndrome characterized by delayed psychomotor development, oculomotor apraxia, and molar tooth sign on brain MRI that has_material_basis_in homozygous or compound heterozygous mutation in the CEP104 gene on chromosome 1p36.
- Super Class
- Joubert syndrome
External Links
- Disease Ontology
- DOID:0110994
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002251 | Aganglionic megacolon |
| HP:0000657 | Oculomotor apraxia |
| HP:0002793 | Abnormal pattern of respiration |
| HP:0001250 | Seizure |
| HP:0000486 | Strabismus |
| HP:0001829 | Foot polydactyly |
| HP:0003312 | Abnormal form of the vertebral bodies |
| HP:0001252 | Hypotonia |
| HP:0000612 | Iris coloboma |
| HP:0002104 | Apnea |
