Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) 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
go back to main search page
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.


show annotations for term's descendants           Sort by:
 
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, autosomal recessive OMIM
ClinVar
PMID:14872406 NCBI chr10:91,830,709...91,874,907
Ensembl chr10:91,830,654...91,874,793
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    syndrome 7568
      tetraamelia syndrome 2
        tetraamelia syndrome 1 1
Path 2
Term Annotations click to browse term
  disease 16909
    Developmental Disease 10557
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8872
        Congenital Abnormalities 5180
          Musculoskeletal Abnormalities 2132
            Congenital Limb Deformities 451
              Ectromelia 12
                tetraamelia syndrome 2
                  tetraamelia syndrome 1 1
paths to the root