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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
 xref: OMIM:PS178110
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 ISS
ISO		 OMIM:178110 | OMIM:253290 | OMIM:265000 | OMIM:312150
ClinVar Annotator: match by term: Pterygium universale		 MouseDO
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr 3:58,454,763...58,469,832
Ensembl chr 3:58,454,744...58,469,840 		JBrowse link
G Chrnd cholinergic receptor nicotinic delta subunit ISO
ISS		 ClinVar Annotator: match by term: Pterygium universale
OMIM:178110 | OMIM:253290 | OMIM:265000 | OMIM:312150		 ClinVar
MouseDO		 PMID:25741868 NCBI chr 9:87,862,417...87,870,833
Ensembl chr 9:87,862,407...87,870,833 		JBrowse link
G Chrng cholinergic receptor nicotinic gamma subunit ISO ClinVar Annotator: match by term: MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT | ClinVar Annotator: match by term: Pterygium colli syndrome | ClinVar Annotator: match by term: Pterygium universale
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:15704180 PMID:16826520 PMID:16826531 PMID:22167768 PMID:24038971 More... NCBI chr 9:87,878,085...87,884,193
Ensembl chr 9:87,878,085...87,914,482 		JBrowse link
G Myh3 myosin heavy chain 3 ISS OMIM:178110 | OMIM:253290 | OMIM:265000 | OMIM:312150 MouseDO NCBI chr10:51,770,177...51,793,994
Ensembl chr10:51,770,177...51,793,992 		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: Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A OMIM
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
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:9536098 PMID:17576681 PMID:18414213 PMID:25741868 PMID:25741870 More... NCBI chr10:51,770,177...51,793,994
Ensembl chr10:51,770,177...51,793,992 		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 More... NCBI chr 3:58,454,763...58,469,832
Ensembl chr 3:58,454,744...58,469,840 		JBrowse link
G Chrnd cholinergic receptor nicotinic delta subunit ISO ClinVar Annotator: match by term: Lethal multiple pterygium syndrome OMIM
ClinVar		 PMID:8872460 PMID:9536098 PMID:11435464 PMID:11782989 PMID:16199547 More... NCBI chr 9:87,862,417...87,870,833
Ensembl chr 9:87,862,407...87,870,833 		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 More... NCBI chr 9:87,878,085...87,884,193
Ensembl chr 9:87,878,085...87,914,482 		JBrowse link
G Prss56 serine protease 56 ISO ClinVar Annotator: match by term: Lethal multiple pterygium syndrome ClinVar PMID:19526372 PMID:21532570 PMID:24033266 PMID:28492532 NCBI chr 9:87,842,806...87,859,978
Ensembl chr 9:87,854,805...87,859,978 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    syndrome 9456
      multiple pterygium syndrome 5
        Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndromes + 1
        Multiple Pterygium Syndrome, Lethal Type 4
        Multiple Pterygium Syndrome, X-Linked 0
Path 2
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      nervous system disease 13079
        peripheral nervous system disease 2974
          neuropathy 2766
            neuromuscular disease 2185
              muscular disease 1417
                muscle tissue disease 934
                  malignant hyperthermia 12
                    multiple pterygium syndrome 5
                      Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndromes + 1
                      Multiple Pterygium Syndrome, Lethal Type 4
                      Multiple Pterygium Syndrome, X-Linked 0
paths to the root