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| Term | tetraamelia syndrome 2 | ID (Ontology) | DOID:0112193 (Human Disease) |
| 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. | ||
| Also Known As | "TETAMS2" ; "tetra-amelia with pulmonary hypoplasia" ; "tetraamelia with pulmonary hypoplasia" | ||
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal genetic disease |__autosomal recessive disease__ syndrome | |__tetraamelia syndrome_________| tetraamelia syndrome 2 |
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| Is a |
autosomal recessive disease tetraamelia syndrome |
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GARD:5147 MIM:618021 |
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