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Joubert syndrome 5
Summary
- Synonym
-
- JBTS5
- Definition
- A Joubert syndrome that has_material_basis_in mutation in the CEP290 gene on chromosome 12q21.
- Super Class
- Joubert syndrome
External Links
- Disease Ontology
- DOID:0111000
- Mondo Disease Ontology
- MeSH
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q6A078 | Centrosomal protein of 290 kDa |
- 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 |
