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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: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
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
 
multiple pterygium syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrna1 cholinergic receptor nicotinic alpha 1 subunit ISO
ISS		 ClinVar Annotator: match by term: MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT
OMIM:178110 | OMIM:253290 | OMIM:265000 | OMIM:312150		 ClinVar
MouseDO		 PMID:25741868 NCBI chr 3:60,445,657...60,460,724
Ensembl chr 3:60,445,666...60,460,724 		JBrowse link
G Chrnd cholinergic receptor nicotinic delta subunit ISO
ISS		 ClinVar Annotator: match by term: MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT
OMIM:178110 | OMIM:253290 | OMIM:265000 | OMIM:312150		 ClinVar
MouseDO		 PMID:25741868 NCBI chr 9:94,286,550...94,294,968
Ensembl chr 9:94,286,550...94,294,968 		JBrowse link
G Chrng cholinergic receptor nicotinic gamma subunit ISO ClinVar Annotator: match by term: Pterygium universale
ClinVar Annotator: match by term: MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT
ClinVar Annotator: match by term: Multiple pterygium syndrome Escobar type
ClinVar Annotator: match by OMIM:265000
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:15704180 PMID:16826520 PMID:16826531 PMID:22167768 PMID:24038971 PMID:24254455 PMID:25326635 PMID:25608830 PMID:25741868 PMID:25957469 PMID:26578207 PMID:26752647 PMID:27245440 PMID:28492532 PMID:30311386 PMID:31680349 NCBI chr 9:94,302,218...94,308,591 JBrowse link
G Myh3 myosin heavy chain 3 ISS OMIM:178110 | OMIM:253290 | OMIM:265000 | OMIM:312150 MouseDO NCBI chr10:53,621,375...53,645,194
Ensembl chr10:53,621,375...53,645,194 		JBrowse link
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
OMIM		 PMID:18470895 PMID:25741868 PMID:25957469 PMID:27381093 PMID:29314551 PMID:29805041 PMID:30311386 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
Multiple Pterygium Syndrome, Lethal Type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrna1 cholinergic receptor nicotinic alpha 1 subunit ISO ClinVar Annotator: match by term: Lethal multiple pterygium syndrome OMIM
ClinVar		 PMID:6287911 PMID:7619526 PMID:7863154 PMID:8872460 PMID:9158151 PMID:14719537 PMID:15907919 PMID:18252226 PMID:18806275 PMID:22728938 PMID:24121633 PMID:25450229 PMID:25741868 PMID:26467025 PMID:27748205 PMID:28492532 PMID:29054425 PMID:29395675 NCBI chr 3:60,445,657...60,460,724
Ensembl chr 3:60,445,666...60,460,724 		JBrowse link
G Chrnd cholinergic receptor nicotinic delta subunit ISO ClinVar Annotator: match by term: Lethal multiple pterygium syndrome OMIM
ClinVar		 PMID:8872460 PMID:11435464 PMID:11782989 PMID:18252226 PMID:18414213 PMID:23108489 PMID:25264167 PMID:25741868 PMID:26467025 PMID:26578207 PMID:28024842 PMID:28492532 PMID:30311386 NCBI chr 9:94,286,550...94,294,968
Ensembl chr 9:94,286,550...94,294,968 		JBrowse link
G Chrng cholinergic receptor nicotinic gamma subunit ISO ClinVar Annotator: match by term: Lethal multiple pterygium syndrome OMIM
ClinVar		 PMID:16826520 PMID:16826531 PMID:22167768 PMID:24038971 PMID:25608830 PMID:25741868 PMID:25957469 PMID:26752647 PMID:27245440 PMID:28492532 PMID:30311386 PMID:31680349 NCBI chr 9:94,302,218...94,308,591 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    syndrome 7041
      multiple pterygium syndrome 4
        Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndromes + 1
        Multiple Pterygium Syndrome, Lethal Type 3
        Multiple Pterygium Syndrome, X-Linked 0
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        peripheral nervous system disease 2498
          neuropathy 2319
            neuromuscular disease 1802
              muscular disease 1218
                muscle tissue disease 829
                  malignant hyperthermia 11
                    multiple pterygium syndrome 4
                      Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndromes + 1
                      Multiple Pterygium Syndrome, Lethal Type 3
                      Multiple Pterygium Syndrome, X-Linked 0
paths to the root