Tetraamelia Syndrome 2
Disease ID: disease_node_20229
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| Dbxref | GARD:5147, MIM:618021 |
|---|---|
| Subclassof | DOID_0112191, DOID_0050737 |
| Data Source | DOID |
| Synonyms | TETAMS2, tetra-amelia with pulmonary hypoplasia, tetraamelia with pulmonary hypoplasia |
| Doid Label | tetraamelia syndrome 2 |
| Doid Description | A tetraamelia syndrome characterized by rudimentary or absent appendages, bilateral agenesis of the lungs, pulmonary vascular abnormalities, and dysmorphic features that has_material_basis_in homozygous or compound heterozygous mutation in RSPO2 on chromosome 8q23.1. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20229 |
| Doid Id | DOID_0112193 |
| Label | Tetraamelia Syndrome 2 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Tetraamelia Syndrome(ID:disease_node_20228) (Disease)