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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
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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 the WDPCP gene 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



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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
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
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
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21118
    syndrome 10725
      congenital heart defects, hamartomas of tongue, and polysyndactyly 1
Path 2
Term Annotations click to browse term
  disease 21118
    disease of anatomical entity 18162
      Skin and Connective Tissue Diseases 7360
        connective tissue disease 5710
          bone disease 4223
            bone development disease 2258
              dysostosis 571
                synostosis 371
                  syndactyly 146
                    congenital heart defects, hamartomas of tongue, and polysyndactyly 1
paths to the root