Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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:Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndromes
go back to main search page
Accession:DOID:9000643 term browser browse the term
Synonyms:exact_synonym: contractures, pterygia, and spondylocarpotarsal fusion syndrome
 xref: OMIM:PS178110
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh3 myosin heavy chain 3 ISO ClinVar Annotator: match by term: Distal arthrogryposis type 8
ClinVar Annotator: match by term: Contractures, pterygia, and variable skeletal fusions syndrome 1A
ClinVar
OMIM
PMID:18470895 PMID:25741868 PMID:25957469 PMID:27381093 PMID:29314551 PMID:29805041 NCBI chr10:53,621,375...53,645,194
Ensembl chr10:53,621,375...53,645,194
JBrowse link
Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh3 myosin heavy chain 3 ISO ClinVar Annotator: match by term: CONTRACTURES, PTERYGIA, AND VARIABLE SKELETAL FUSIONS SYNDROME 1B OMIM
ClinVar
PMID:29805041 NCBI chr10:53,621,375...53,645,194
Ensembl chr10:53,621,375...53,645,194
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    syndrome 7036
      multiple pterygium syndrome 4
        Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndromes 1
          Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1A 1
          Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1B 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        peripheral nervous system disease 2425
          neuropathy 2243
            neuromuscular disease 1763
              muscular disease 1168
                muscle tissue disease 792
                  malignant hyperthermia 11
                    multiple pterygium syndrome 4
                      Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndromes 1
                        Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1A 1
                        Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1B 1
paths to the root