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
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: 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 .
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
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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
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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
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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
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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
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
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
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
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
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