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

ONTOLOGY REPORT - ANNOTATIONS


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-polysyndactyly syndrome
 primary_id: MESH:C537137
 alt_id: OMIM:217085
 xref: GARD:4166;   ORDO:1338
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
congenital heart defects, hamartomas of tongue, and polysyndactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wdpcp WD repeat containing planar cell polarity effector JBrowse link 14 106,393,959 106,759,511 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15609
    syndrome 5791
      congenital heart defects, hamartomas of tongue, and polysyndactyly 1
Path 2
Term Annotations click to browse term
  disease 15609
    disease of anatomical entity 14966
      Skin and Connective Tissue Diseases 5231
        connective tissue disease 3934
          bone disease 3431
            bone development disease 1243
              dysostosis 318
                synostosis 211
                  syndactyly 42
                    congenital heart defects, hamartomas of tongue, and polysyndactyly 1
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.