Joubert Syndrome 23
Disease ID: disease_node_14695
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| Dbxref | MIM:616490 |
|---|---|
| Subclassof | DOID_0050777 |
| Data Source | DOID |
| Synonyms | JBTS23 |
| Doid Label | Joubert syndrome 23 |
| Doid Description | A Joubert syndrome characterized by delayed development, abnormal eye movements, and abnormal breathing pattern, and molar tooth sign on brain MRI that has_material_basis_in homozygous or compound heterozygous mutation in the KIAA0586 gene on chromosome 14q23. |
| Disease Node Id | disease_node_14695 |
| Doid Id | DOID_0110992 |
| Label | Joubert Syndrome 23 |
- Outgoing r'ship
SUBCLASS_OFto/from Joubert Syndrome(ID:disease_node_14692) (Disease)