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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:Patterson Stevenson Syndrome
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Accession:DOID:9003769 term browser browse the term
Synonyms:exact_synonym: Patterson Stevenson Fontaine syndrome;   Split-Foot Deformity With Mandibulofacial Dysostosis;   Split-foot deformity with ectrodactyly and mandibulofacial dysostosis;   TPT and PSD syndrome;   TPTPS;   Triphalangeal Thumb-Polydactyly Syndrome;   Triphalangeal thumb polysyndactyly syndrome;   polydactyly of triphalangeal thumb;   triphalangeal thumb with polysyndactyly
 primary_id: MESH:C536311
 alt_id: OMIM:183700;   OMIM:190605


show annotations for term's descendants           Sort by:
Patterson Stevenson Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmbr1 limb development membrane protein 1 ISO ClinVar Annotator: match by term: POLYDACTYLY OF TRIPHALANGEAL THUMB | ClinVar Annotator: match by term: TRIPHALANGEAL THUMB-POLYDACTYLY SYNDROME | ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome OMIM
ClinVar		 PMID:8012392 PMID:10937618 PMID:12837695 PMID:17152067 PMID:17300748 More... NCBI chr 4:5,974,687...6,146,348
Ensembl chr 4:5,974,750...6,146,368 		JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: TRIPHALANGEAL THUMB-POLYDACTYLY SYNDROME ClinVar PMID:12204003 PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333 		JBrowse link
G Rnf32 ring finger protein 32 ISO ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome ClinVar PMID:18178630 NCBI chr 4:6,144,749...6,209,320
Ensembl chr 4:6,149,841...6,209,257 		JBrowse link
G Shh sonic hedgehog signaling molecule ISO DNA:duplication:enhancer RGD PMID:18417549 RGD:12801418 NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21118
    syndrome 10725
      Patterson Stevenson Syndrome 4
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
                  craniosynostosis 312
                    Crouzon syndrome 30
                      Mandibulofacial Dysostosis 24
                        Patterson Stevenson Syndrome 4
paths to the root