Joubert Syndrome 28
Disease ID: disease_node_14706
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| Dbxref | MIM:617121 |
|---|---|
| Subclassof | DOID_0050777 |
| Data Source | DOID |
| Synonyms | JBTS28 |
| Doid Label | Joubert syndrome 28 |
| Doid Description | A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the MKS1 gene on chromosome 17q23. |
| Disease Node Id | disease_node_14706 |
| Doid Id | DOID_0110997 |
| Label | Joubert Syndrome 28 |
- Outgoing r'ship
SUBCLASS_OFto/from Joubert Syndrome(ID:disease_node_14692) (Disease)