Joubert Syndrome 29
Disease ID: disease_node_14710
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| Subclassof | DOID_0050777 |
|---|---|
| Data Source | DOID |
| Doid Label | Joubert syndrome 29 |
| Doid Description | A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM107 gene on chromosome 17p13. OMIM notes Meckel syndrome 13 and Joubert syndrome 29 are both caused by mutation in the TMEM107 gene [LS] |
| Disease Node Id | disease_node_14710 |
| Doid Id | DOID_0080276 |
| Label | Joubert Syndrome 29 |
- Outgoing r'ship
SUBCLASS_OFto/from Joubert Syndrome(ID:disease_node_14692) (Disease)