OBO ID: DOID:0112193
Term Name: tetraamelia syndrome 2 Search Ontology:
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. (2)
References:
Ontology: Human Disease   (DOID:0112193)
OTHER tetraamelia syndrome 2 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
RSPO2 Tetraamelia syndrome 2 618021
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None