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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: MIM: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: Congenital heart defects, hamartomas of tongue, and polysyndactyly | 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 chr14:99,847,463...100,178,392
Ensembl chr14:99,847,632...100,200,287 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14566
    syndrome 5304
      congenital heart defects, hamartomas of tongue, and polysyndactyly 1
Path 2
Term Annotations click to browse term
  disease 14566
    disease of anatomical entity 13676
      Skin and Connective Tissue Diseases 4866
        connective tissue disease 3414
          bone disease 2876
            bone development disease 1148
              dysostosis 301
                synostosis 197
                  syndactyly 68
                    congenital heart defects, hamartomas of tongue, and polysyndactyly 1
paths to the root