Siddiqi Syndrome
Disease ID: disease_node_20501
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| Dbxref | MIM:618635 |
|---|---|
| Subclassof | DOID_9455 |
| Data Source | DOID |
| Doid Label | Siddiqi syndrome |
| Doid Description | A lipid storage disease that is characterized by global developmental delay, early-onset progressive sensorineural hearing impairment, regression of motor skills, dystonia, poor overall growth, and low body mass index and that has_material_basis_in homozygous or compound heterozygous mutation in the FITM2 gene on chromosome 20q13. |
| Disease Node Id | disease_node_20501 |
| Doid Id | DOID_0081273 |
| Label | Siddiqi Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Lipidoses(ID:disease_node_4786) (Disease)