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
Accession: DOID:0080110
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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Chrng
cholinergic receptor nicotinic gamma subunit
ISO
ClinVar Annotator: match by term: Pterygium universale CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:16826520 PMID:16826531 PMID:22167768 PMID:24038971 PMID:24254455 PMID:25608830 PMID:25741868 PMID:25957469 PMID:26578207 PMID:26752647 PMID:27245440 PMID:28492532 PMID:30868735 PMID:31230720 PMID:33060286 PMID:34440395 More...
NCBI chr 9:87,878,085...87,884,193
Ensembl chr 9:87,878,085...87,914,482
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Myh3
myosin heavy chain 3
ISO
ClinVar Annotator: match by term: PTERYGIUM SYNDROME, MULTIPLE
ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:29805041 PMID:32902138 PMID:33726816 PMID:34204301 PMID:34440395 PMID:35169139 More...
NCBI chr10:51,770,177...51,793,994
Ensembl chr10:51,770,177...51,793,992
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Myh3
myosin heavy chain 3
ISO
CTD Direct Evidence: marker/mechanism 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 CTD ClinVar
PMID:9536098 PMID:17576681 PMID:18414213 PMID:18470895 PMID:25741868 PMID:25957469 PMID:27381093 PMID:28492532 PMID:29314551 PMID:29805041 PMID:32902138 PMID:33726816 PMID:34204301 PMID:34440395 PMID:35169139 More...
NCBI chr10:51,770,177...51,793,994
Ensembl chr10:51,770,177...51,793,992
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Chrna1
cholinergic receptor nicotinic alpha 1 subunit
ISO
ClinVar Annotator: match by term: Autosomal recessive multiple pterygium syndrome
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:58,454,763...58,469,832
Ensembl chr 3:58,454,744...58,469,840
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Chrnd
cholinergic receptor nicotinic delta subunit
ISO
ClinVar Annotator: match by term: Autosomal recessive multiple pterygium syndrome
ClinVar
PMID:25741868
NCBI chr 9:87,862,417...87,870,833
Ensembl chr 9:87,862,407...87,870,833
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Chrng
cholinergic receptor nicotinic gamma subunit
ISO
ClinVar Annotator: match by term: Autosomal recessive multiple pterygium syndrome
ClinVar
PMID:15704180 PMID:16826520 PMID:16826531 PMID:22167768 PMID:23261301 PMID:24038971 PMID:24254455 PMID:24319099 PMID:25326635 PMID:25411939 PMID:25608830 PMID:25741868 PMID:25957469 PMID:26578207 PMID:26752647 PMID:27245440 PMID:28492532 PMID:30868735 PMID:31230720 PMID:31354645 PMID:31680349 PMID:32901917 PMID:33060286 PMID:34008892 PMID:34440395 More...
NCBI chr 9:87,878,085...87,884,193
Ensembl chr 9:87,878,085...87,914,482
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Myh3
myosin heavy chain 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 PMID:28492532 PMID:29805041 PMID:32902138 PMID:33726816 PMID:34204301 PMID:34440395 PMID:35169139 More...
NCBI chr10:51,770,177...51,793,994
Ensembl chr10:51,770,177...51,793,992
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Chrna1
cholinergic receptor nicotinic alpha 1 subunit
ISO
ClinVar Annotator: match by term: Lethal multiple pterygium syndrome CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:6287911 PMID:7619526 PMID:7863154 PMID:8872460 PMID:9158151 PMID:9221765 PMID:9536098 PMID:10195214 PMID:14719537 PMID:15907919 PMID:16199547 PMID:17576681 PMID:18252226 PMID:18806275 PMID:22406191 PMID:22728938 PMID:23037934 PMID:24121633 PMID:25348405 PMID:25450229 PMID:25741868 PMID:25741885 PMID:26467025 PMID:27748205 PMID:28492532 PMID:29054425 PMID:29395675 PMID:30177536 PMID:31680349 PMID:33216040 More...
NCBI chr 3:58,454,763...58,469,832
Ensembl chr 3:58,454,744...58,469,840
G
Chrnd
cholinergic receptor nicotinic delta subunit
ISO
ClinVar Annotator: match by term: Lethal multiple pterygium syndrome CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:8872460 PMID:9536098 PMID:11435464 PMID:11782989 PMID:16199547 PMID:16916845 PMID:17576681 PMID:18252226 PMID:18414213 PMID:19526372 PMID:21532570 PMID:23108489 PMID:24033266 PMID:25264167 PMID:25741868 PMID:26467025 PMID:26578207 PMID:28024842 PMID:28492532 PMID:29382405 PMID:29390429 PMID:30467950 PMID:31560172 PMID:32070632 PMID:32360402 PMID:32528171 More...
NCBI chr 9:87,862,417...87,870,833
Ensembl chr 9:87,862,407...87,870,833
G
Chrng
cholinergic receptor nicotinic gamma subunit
ISO
ClinVar Annotator: match by term: Lethal multiple pterygium syndrome CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:16826520 PMID:16826531 PMID:22167768 PMID:24038971 PMID:24254455 PMID:24319099 PMID:25411939 PMID:25608830 PMID:25741868 PMID:25957469 PMID:26578207 PMID:26752647 PMID:27245440 PMID:28492532 PMID:30868735 PMID:31230720 PMID:32536119 PMID:32901917 PMID:33060286 PMID:34008892 PMID:34440395 More...
NCBI chr 9:87,878,085...87,884,193
Ensembl chr 9:87,878,085...87,914,482
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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
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all
Path 1
disease
21112
syndrome
10710
contractures, pterygia, and spondylocarpotarsal fusion syndrome
5
Multiple Pterygium Syndrome, Lethal Type +
4
contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A
1
contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B
4
Path 2
disease
21112
disease of anatomical entity
18151
nervous system disease
13991
peripheral nervous system disease
4068
neuropathy
3850
neuromuscular disease
3029
muscular disease
2117
muscle tissue disease
1272
malignant hyperthermia
14
contractures, pterygia, and spondylocarpotarsal fusion syndrome
5
Multiple Pterygium Syndrome, Lethal Type +
4
contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A
1
contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B
4