Wiedemann-Rautenstrauch Syndrome
Disease ID: disease_node_19960
Connections displayed (default: 10).
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| Dbxref | GARD:330, MIM:264090, ORDO:3455 |
|---|---|
| Subclassof | DOID_0081332, DOID_0050737 |
| Data Source | DOID |
| Synonyms | Neonatal progeroid syndrome, PROGEROID SYNDROME, NEONATAL |
| Doid Label | Wiedemann-Rautenstrauch syndrome |
| Doid Description | A progeroid syndrome that is characterized by intrauterine growth retardation, failure to thrive, short stature, a progeroid appearance, hypotonia, and variable mental impairment and that has_material_basis_in compound heterozygous mutation in the POLR3A gene on chromosome 10q22. |
| Existence Starts During | HP_0003623 |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_19960 |
| Doid Id | DOID_0081333 |
| Label | Wiedemann-Rautenstrauch Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Progeroid Syndrome(ID:disease_node_19958) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)