Ritscher-Schinzel Syndrome 1
Disease ID: disease_node_19130
Connections displayed (default: 10).
Loading graph...
| Dbxref | MIM:220210, ORDO:7 |
|---|---|
| Subclassof | DOID_0050737, DOID_0060565 |
| Data Source | DOID |
| Doid Label | Ritscher-Schinzel syndrome 1 |
| Doid Description | A Ritscher-Schinzel syndrome that has_material_basis_in homozygous mutation in the KIAA0196 gene on chromosome 8q24. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_19130 |
| Doid Id | DOID_0060571 |
| Label | Ritscher-Schinzel Syndrome 1 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)