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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
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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: Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndromes;   EVMPS;   Escobar syndrome;   familial pterygium syndrome;   multiple 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: DOID:9000643;   OMIM:265000
 xref: OMIM:PS178110

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show annotations for term's descendants           Sort by:
contractures, pterygia, and spondylocarpotarsal fusion syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrng cholinergic receptor nicotinic gamma subunit ISO ClinVar Annotator: match by term: Pterygium universale OMIM
ClinVar		 PMID:16826520 PMID:16826531 PMID:22167768 PMID:24038971 PMID:24254455 More... NCBI chrNW_004955453:3,425,603...3,432,695
Ensembl chrNW_004955453:3,425,603...3,432,695 		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 LOC102003853 myosin-3 ISO 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
ClinVar		 PMID:9536098 PMID:17576681 PMID:18414213 PMID:18470895 PMID:25741868 More... NCBI chrNW_004955467:6,561,609...6,583,228
Ensembl chrNW_004955467:6,561,617...6,583,089 		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 Chrna1 cholinergic receptor nicotinic alpha 1 subunit ISO ClinVar Annotator: match by term: Autosomal recessive multiple pterygium syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955449:661,310...683,873
Ensembl chrNW_004955449:661,304...683,873 		JBrowse link
G Chrnd cholinergic receptor nicotinic delta subunit ISO ClinVar Annotator: match by term: Autosomal recessive multiple pterygium syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955453:3,433,915...3,440,534
Ensembl chrNW_004955453:3,433,341...3,440,269 		JBrowse link
G Chrng cholinergic receptor nicotinic gamma subunit ISO ClinVar Annotator: match by term: Autosomal recessive multiple pterygium syndrome ClinVar PMID:15704180 PMID:16199547 PMID:16826520 PMID:16826531 PMID:22167768 More... NCBI chrNW_004955453:3,425,603...3,432,695
Ensembl chrNW_004955453:3,425,603...3,432,695 		JBrowse link
G LOC102003853 myosin-3 ISO ClinVar Annotator: match by term: CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1B | 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 chrNW_004955467:6,561,609...6,583,228
Ensembl chrNW_004955467:6,561,617...6,583,089 		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:9158151 PMID:9221765 More... NCBI chrNW_004955449:661,310...683,873
Ensembl chrNW_004955449:661,304...683,873 		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 chrNW_004955453:3,433,915...3,440,534
Ensembl chrNW_004955453:3,433,341...3,440,269 		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:24254455 More... NCBI chrNW_004955453:3,425,603...3,432,695
Ensembl chrNW_004955453:3,425,603...3,432,695 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    syndrome 9329
      contractures, pterygia, and spondylocarpotarsal fusion syndrome 4
        Multiple Pterygium Syndrome, Lethal Type + 3
        contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A 1
        contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B 4
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      nervous system disease 12088
        peripheral nervous system disease 3827
          neuropathy 3646
            neuromuscular disease 2848
              muscular disease 2001
                muscle tissue disease 1200
                  malignant hyperthermia 13
                    contractures, pterygia, and spondylocarpotarsal fusion syndrome 4
                      Multiple Pterygium Syndrome, Lethal Type + 3
                      contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A 1
                      contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B 4
paths to the root