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RGD uses the Human Disease Ontology (DO, for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:tetraamelia syndrome 2
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Accession:DOID:0112193 term browser browse the term
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. (DO)
Synonyms:exact_synonym: TETAMS2;   absence of upper and lower limbs with pulmonary hypoplasia;   syndrome of tetraamelia with pulmonary hypoplasia;   tetra-amelia with pulmonary hypoplasia;   tetraamelia syndrome 2 with pulmonary agenesis;   tetraamelia with pulmonary hypoplasia
 primary_id: MESH:C536499
 alt_id: OMIM:618021
 xref: GARD:5147
For additional species annotation, visit the Alliance of Genome Resources.

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tetraamelia syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rspo2 R-spondin 2 ISO ClinVar Annotator: match by term: Tetraamelia syndrome 2 OMIM
PMID:25741868 PMID:28492532 PMID:29769720 NCBI chr 7:74,096,378...74,239,398
Ensembl chr 7:74,103,090...74,238,933
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    syndrome 9456
      tetraamelia syndrome 2
        tetraamelia syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 18032
    Developmental Disease 12742
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11402
        Congenital Abnormalities 6483
          Musculoskeletal Abnormalities 2678
            Congenital Limb Deformities 588
              Ectromelia 12
                tetraamelia syndrome 2
                  tetraamelia syndrome 2 1
paths to the root