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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:contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A
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Accession:DOID:0081321 term browser browse the term
Definition:A contractures, pterygia, and spondylocarpotarsal fusion syndrome that is characterized by contractures of proximal and distal joints, pterygia involving the neck, axillae, elbows, and/or knees, as well as variable vertebral, carpal, and tarsal fusions and short stature and that has material_basis_in heterozygous mutation in the MYH3 gene on chromosome 17p13. (DO)
Synonyms:exact_synonym: CPSFS1A;   CPSKF1A;   autosomal dominant multiple pterygium syndrome;   contractures, pterygia, and variable skeletal fusions syndrome 1A
 related_synonym: DA8;   distal arthrogryposis, type 8
 primary_id: MESH:C566739
 alt_id: DOID:9004135;   OMIM:178110
 xref: ORDO:65743


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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A | ClinVar Annotator: match by term: Contractures, pterygia, and variable skeletal fusions syndrome 1A		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:17576681 PMID:18414213 PMID:18470895 PMID:25741868 More... NCBI chr10:51,770,177...51,793,994
Ensembl chr10:51,770,177...51,793,992 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18970
    syndrome 10900
      contractures, pterygia, and spondylocarpotarsal fusion syndrome 5
        contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A 1
Path 2
Term Annotations click to browse term
  disease 18970
    disease of anatomical entity 18265
      nervous system disease 14120
        peripheral nervous system disease 4131
          neuropathy 3914
            neuromuscular disease 3064
              muscular disease 2153
                muscle tissue disease 1300
                  malignant hyperthermia 15
                    contractures, pterygia, and spondylocarpotarsal fusion syndrome 5
                      contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A 1
paths to the root