ONTOLOGY REPORT - ANNOTATIONS


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
 primary_id: OMIM:253290
 alt_id: RDO:0008388
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
Multiple Pterygium Syndrome, Lethal Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chrna1 cholinergic receptor nicotinic alpha 1 subunit JBrowse link 3 60,445,657 60,460,724 RGD:7240710
RGD:8554872
G Chrnd cholinergic receptor nicotinic delta subunit JBrowse link 9 94,286,550 94,294,968 RGD:7240710
RGD:8554872
G Chrng cholinergic receptor nicotinic gamma subunit JBrowse link 9 94,302,218 94,308,591 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    syndrome 4220
      multiple pterygium syndrome 4
        Multiple Pterygium Syndrome, Lethal Type 3
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        peripheral nervous system disease 2009
          neuropathy 1830
            neuromuscular disease 1411
              muscular disease 908
                muscle tissue disease 636
                  malignant hyperthermia 8
                    multiple pterygium syndrome 4
                      Multiple Pterygium Syndrome, Lethal Type 3
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.