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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
 broad_synonym: WDPCP-RELATED CONDITION
 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Heart defect - tongue hamartoma - polysyndactyly syndrome | ClinVar Annotator: match by term: WDPCP-related condition		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:20671153 PMID:25326635 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 18969
    syndrome 10888
      congenital heart defects, hamartomas of tongue, and polysyndactyly 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      Skin and Connective Tissue Diseases 7461
        connective tissue disease 5786
          bone disease 4302
            bone development disease 2307
              dysostosis 578
                synostosis 377
                  syndactyly 148
                    congenital heart defects, hamartomas of tongue, and polysyndactyly 1
paths to the root