Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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, Lethal Type
go back to main search page
Accession:DOID:9005962 term browser browse the term
Synonyms:exact_synonym: LMPS;   lethal multiple pterygium syndrome
 broad_synonym: CHRNG-RELATED DISORDER
 primary_id: OMIM:253290
 alt_id: RDO:0008388
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
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:9536098 PMID:10195214 PMID:14719537 PMID:15907919 PMID:16199547 PMID:17576681 PMID:18252226 PMID:18806275 PMID:22728938 PMID:24121633 PMID:25348405 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:9536098 PMID:11435464 PMID:11782989 PMID:16916845 PMID:17576681 PMID:18252226 PMID:18414213 PMID:23108489 PMID:25264167 PMID:25741868 PMID:25787132 PMID:26467025 PMID:26578207 PMID:28024842 PMID:28492532 PMID:29382405 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: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 17126
    syndrome 8015
      multiple pterygium syndrome 4
        Multiple Pterygium Syndrome, Lethal Type 3
Path 2
Term Annotations click to browse term
  disease 17126
    disease of anatomical entity 16474
      nervous system disease 12073
        peripheral nervous system disease 2516
          neuropathy 2316
            neuromuscular disease 1829
              muscular disease 1229
                muscle tissue disease 820
                  malignant hyperthermia 11
                    multiple pterygium syndrome 4
                      Multiple Pterygium Syndrome, Lethal Type 3
paths to the root