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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
For additional species annotation, visit the Alliance of Genome Resources.



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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: Triphalangeal thumb polysyndactyly syndrome ClinVar PMID:17300748 PMID:18178630 PMID:18417549 NCBI chr 4:5,974,687...6,146,348
Ensembl chr 4:5,974,750...6,146,368
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 17286
    syndrome 8170
      Patterson Stevenson Syndrome 2
Path 2
Term Annotations click to browse term
  disease 17286
    disease of anatomical entity 16621
      Skin and Connective Tissue Diseases 5861
        connective tissue disease 4445
          bone disease 3122
            bone development disease 1424
              dysostosis 394
                synostosis 242
                  craniosynostosis 187
                    Crouzon syndrome 24
                      Mandibulofacial Dysostosis 18
                        Patterson Stevenson Syndrome 2
paths to the root