Salt And Pepper Syndrome
Disease ID: disease_node_20352
Connections displayed (default: 10).
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| Dbxref | MIM:609056, ORDO:370938 |
|---|---|
| Subclassof | DOID_225, DOID_0050737 |
| Data Source | DOID |
| Synonyms | salt & pepper syndrome, salt-and-pepper syndrome |
| Doid Label | salt and pepper syndrome |
| Doid Description | A syndrome characterized by severe intellectual disability, epilepsy, scoliosis, choreoathetosis, dysmorphic facial features and altered dermal pigmentation that has_material_basis_in homozygous or compound heterozygous mutation in the SIAT9 gene on chromosome 2p11.2. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20352 |
| Doid Id | DOID_0060470 |
| Label | Salt And Pepper Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)