Tetraamelia Syndrome 1
Disease ID: disease_node_20230
Connections displayed (default: 10).
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| Dbxref | GARD:5148, MIM:273395 |
|---|---|
| Subclassof | DOID_0112191, DOID_0050737 |
| Data Source | DOID |
| Synonyms | TETAMS1, tetra-amelia syndrome 1 |
| Doid Label | tetraamelia syndrome 1 |
| Doid Description | A tetraamelia syndrome characterized by complete limb agenesis without defects of scapulae or clavicles that has_material_basis_in homozygous or compound heterozygous mutation in WNT3 on chromosome 17q21.31-q21.32. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20230 |
| Doid Id | DOID_0112192 |
| Label | Tetraamelia Syndrome 1 |
- Outgoing r'ship
SUBCLASS_OFto/from Tetraamelia Syndrome(ID:disease_node_20228) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)