Term Name:	tetraamelia syndrome 2
Synonyms:	TETAMS2, tetra-amelia with pulmonary hypoplasia, tetraamelia with pulmonary hypoplasia
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.
Ontology:	Human Disease [DOID:0112193]   ( DOID:0112193 )