Warsaw Breakage Syndrome
Disease ID: disease_node_20331
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| Dbxref | GARD:13708, MIM:613398, ORDO:280558 |
|---|---|
| Subclassof | DOID_225, DOID_0050737 |
| Data Source | DOID |
| Synonyms | WABS |
| Doid Label | Warsaw breakage syndrome |
| Doid Description | A syndrome mainly characterized by severe congenital microcephaly, growth restriction, and sensorineural hearing loss due to cochlear hypoplasia and that has_material_basis_in homozygous or compound heterozygous mutation in the DDX11 gene on chromosome 12p11. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20331 |
| Doid Id | DOID_0060535 |
| Label | Warsaw Breakage Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease)