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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 1
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Accession:DOID:0112192 term browser browse the term
Definition:A tetraamelia syndrome characterized by complete limb agenesis without defects of scapulae or clavicles that has_material_basis_in homozygous or compound heterozygous mutation in WNT3 on chromosome 17q21.31-q21.32. (DO)
Synonyms:exact_synonym: TETAMS1;   Tetra-Amelia Autosomal Recessive;   Tetraamelia, Autosomal Recessive;   tetra-amelia syndrome 1;   tetraamelia syndrome, autosomal recessive
 primary_id: MESH:C536498
 alt_id: OMIM:273395
 xref: GARD:5148
For additional species annotation, visit the Alliance of Genome Resources.

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tetraamelia syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wnt3 Wnt family member 3 ISO ClinVar Annotator: match by term: Tetraamelia syndrome 1 OMIM
PMID:14872406 NCBI chr10:88,680,248...88,724,170
Ensembl chr10:88,680,248...88,724,099
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    syndrome 9456
      tetraamelia syndrome 2
        tetraamelia syndrome 1 1
Path 2
Term Annotations click to browse term
  disease 18030
    Developmental Disease 12741
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11401
        Congenital Abnormalities 6484
          Musculoskeletal Abnormalities 2678
            Congenital Limb Deformities 588
              Ectromelia 12
                tetraamelia syndrome 2
                  tetraamelia syndrome 1 1
paths to the root