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tetraamelia syndrome 2 (DOID:0112193)
Alliance: disease page
Synonyms: TETAMS2; tetra-amelia with pulmonary hypoplasia; tetraamelia with pulmonary hypoplasia
Alt IDs: OMIM:618021
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory