| Metadata | |
|---|---|
| ID | DOID:0112193 |
| Name | tetraamelia syndrome 2 |
| Definition | 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. https://pubmed.ncbi.nlm.nih.gov/16283889/, https://pubmed.ncbi.nlm.nih.gov/29769720/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
TETAMS2 [EXACT] tetra-amelia with pulmonary hypoplasia [EXACT] tetraamelia with pulmonary hypoplasia [EXACT] |
| Parent Relationships |
is_a tetraamelia syndrome |