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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: MIM:183700;   MIM: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: TRIPHALANGEAL THUMB-POLYDACTYLY SYNDROME | ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome OMIM
ClinVar
PMID:17300748 PMID:18178630 PMID:18417549 NCBI chr 4:6,649,824...6,820,525
Ensembl chr 4:5,974,750...6,146,368
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 4:7,687,872...7,697,025
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 19141
    syndrome 11372
      Patterson Stevenson Syndrome 3
Path 2
Term Annotations click to browse term
  disease 19141
    disease of anatomical entity 18453
      Skin and Connective Tissue Diseases 7769
        connective tissue disease 5916
          bone disease 4362
            bone development disease 2385
              dysostosis 637
                synostosis 402
                  craniosynostosis 337
                    Crouzon syndrome 32
                      Mandibulofacial Dysostosis 26
                        Patterson Stevenson Syndrome 3
paths to the root