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:congenital heart defects, hamartomas of tongue, and polysyndactyly
go back to main search page
Accession:DOID:0111591 term browser browse the term
Definition:A syndrome characterized by congenital heart defects, hamartomas of tongue, and polysyndactyly that has_material_basis_in homozygous or compound heterozygous mutation in WDPCP on chromosome 2p15. (DO)
Synonyms:exact_synonym: CHDTHP;   Orstavik Lindemann Solberg syndrome;   Ostravik-Lindemann-Solberg syndrome;   heart defect, tongue hamartoma and polysyndactyly;   heart defect-tongue hamartoma-polysyndactyly syndrome
 primary_id: OMIM:217085
 alt_id: MESH:C535849;   MESH:C537137
 xref: GARD:4166;   ORDO:1338
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
congenital heart defects, hamartomas of tongue, and polysyndactyly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wdpcp WD repeat containing planar cell polarity effector ISO ClinVar Annotator: match by term: Heart defect - tongue hamartoma - polysyndactyly syndrome OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:20671153 PMID:25326635 PMID:25427950 More... NCBI chr14:95,645,955...95,977,120
Ensembl chr14:95,646,038...95,977,113
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18162
    physical disorder 4194
      congenital heart disease 1198
        congenital heart defects, hamartomas of tongue, and polysyndactyly 1
Path 2
Term Annotations click to browse term
  disease 18162
    disease of anatomical entity 17537
      Skin and Connective Tissue Diseases 6656
        connective tissue disease 5013
          bone disease 3683
            bone development disease 1873
              dysostosis 439
                synostosis 287
                  syndactyly 73
                    congenital heart defects, hamartomas of tongue, and polysyndactyly 1
paths to the root