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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, short stature, rocker-bottom or club feet, joints that are bent in a fixed position, union or webbing of the skin between the fingers, 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 type;   multiple pterygium syndrome, Escobar variant;   multiple pterygium syndrome, nonlethal type;   pterygium colli syndrome;   pterygium syndrome;   pterygium universale
 broad_synonym: CHRNG-RELATED DISORDER
 primary_id: MESH:C537377
 alt_id: OMIM:265000;   RDO:0003214
 xref: OMIM:PS178110
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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
G Myh3 myosin heavy chain 3 JBrowse link 10 53,621,375 53,645,194 RGD:13592920
Contractures, Pterygia, and Variable Skeletal Fusions Syndrome 1A 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 15626
    syndrome 5163
      multiple pterygium syndrome 4
        Contractures, Pterygia, and Variable Skeletal Fusions Syndrome 1A 1
        Multiple Pterygium Syndrome, Lethal Type 3
        Multiple Pterygium Syndrome, X-Linked 0
Path 2
Term Annotations click to browse term
  disease 15626
    disease of anatomical entity 14956
      nervous system disease 10224
        peripheral nervous system disease 2127
          neuropathy 1950
            neuromuscular disease 1522
              muscular disease 959
                muscle tissue disease 685
                  malignant hyperthermia 8
                    multiple pterygium syndrome 4
                      Contractures, Pterygia, and Variable Skeletal Fusions Syndrome 1A 1
                      Multiple Pterygium Syndrome, Lethal Type 3
                      Multiple Pterygium Syndrome, X-Linked 0
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.