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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 4:2,116,094...2,274,111
Ensembl chr 4:2,116,094...2,201,749
JBrowse link
G Shh sonic hedgehog signaling molecule ISO DNA:duplication:enhancer RGD PMID:18417549 RGD:12801418 NCBI chr 4:718,538...727,691
Ensembl chr 4:718,538...727,691
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    syndrome 6989
      Patterson Stevenson Syndrome 2
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      Skin and Connective Tissue Diseases 5474
        connective tissue disease 4073
          bone disease 3528
            bone development disease 1329
              dysostosis 342
                synostosis 229
                  craniosynostosis 176
                    Crouzon syndrome 24
                      Mandibulofacial Dysostosis 18
                        Patterson Stevenson Syndrome 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.