Joubert Syndrome 26
Disease ID: disease_node_14713
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| Dbxref | MIM:616784 |
|---|---|
| Subclassof | DOID_0050777 |
| Data Source | DOID |
| Synonyms | JBTS26 |
| Doid Label | Joubert syndrome 26 |
| Doid Description | A Joubert syndrome characterized by global developmental delay and cerebellar hypoplasia that has_material_basis_in homozygous mutation in the KIAA0556 gene on chromosome 16p12. |
| Disease Node Id | disease_node_14713 |
| Doid Id | DOID_0110995 |
| Label | Joubert Syndrome 26 |
- Outgoing r'ship
SUBCLASS_OFto/from Joubert Syndrome(ID:disease_node_14692) (Disease)