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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:0000369 | Low-set ears |
| HP:0002251 | Aganglionic megacolon |
| HP:0000612 | Iris coloboma |
| HP:0001249 | Intellectual disability |
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum |
| HP:0008872 | Feeding difficulties in infancy |
| HP:0030680 | Abnormal cardiovascular system morphology |
