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ONTOLOGY REPORT - ANNOTATIONS


Term:multiple pterygium syndrome
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Accession:DOID:0080110 term browser browse the term
Definition:A syndrome that is characterized by permanently bent fingers (camptodactyly), short stature, rocker-bottom or club feet, joints that are bent in a fixed position (contractures), union or webbing of the skin between the fingers (syndactyly), and/or webbing of the neck, inside bend of the elbows, back of the knees and armpits. (DO)
Synonyms:exact_synonym: EVMPS;   Escobar syndrome;   familial pterygium syndrome;   multiple pterygium syndrome, Escobar variant;   multiple pterygium syndrome, nonlethal type;   pterygium colli syndrome;   pterygium syndrome;   pterygium universale
 primary_id: MESH:C537377
 alt_id: OMIM:265000;   OMIM:312150;   RDO:0003214
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multiple pterygium syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chrna1 cholinergic receptor nicotinic alpha 1 subunit JBrowse link 3 60,445,657 60,460,724 RGD:8554872
RGD:13592920
G Chrnd cholinergic receptor nicotinic delta subunit JBrowse link 9 94,286,550 94,294,968 RGD:8554872
RGD:13592920
G Chrng cholinergic receptor nicotinic gamma subunit JBrowse link 9 94,302,218 94,308,591 RGD:7240710
RGD:8554872
RGD:11554173
Multiple Pterygium Syndrome, Autosomal Dominant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myh3 myosin heavy chain 3 JBrowse link 10 53,621,375 53,645,194 RGD:8554872
RGD:7240710
Multiple Pterygium Syndrome, Lethal Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chrna1 cholinergic receptor nicotinic alpha 1 subunit JBrowse link 3 60,445,657 60,460,724 RGD:7240710
RGD:8554872
G Chrnd cholinergic receptor nicotinic delta subunit JBrowse link 9 94,286,550 94,294,968 RGD:7240710
RGD:8554872
G Chrng cholinergic receptor nicotinic gamma subunit JBrowse link 9 94,302,218 94,308,591 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14759
    syndrome 4210
      multiple pterygium syndrome 4
        Multiple Pterygium Syndrome, Autosomal Dominant 1
        Multiple Pterygium Syndrome, Lethal Type 3
        Multiple Pterygium Syndrome, X-Linked 0
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        peripheral nervous system disease 1998
          neuropathy 1823
            neuromuscular disease 1406
              muscular disease 902
                muscle tissue disease 631
                  malignant hyperthermia 8
                    multiple pterygium syndrome 4
                      Multiple Pterygium Syndrome, Autosomal Dominant 1
                      Multiple Pterygium Syndrome, Lethal Type 3
                      Multiple Pterygium Syndrome, X-Linked 0
paths to the root