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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:Lethal Congenital Contracture Syndrome 5
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Accession:DOID:9004426 term browser browse the term
Synonyms:exact_synonym: LCCS5;   lethal centronuclear myopathy, autosomal recessive
 primary_id: OMIM:615368


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Lethal Congenital Contracture Syndrome 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnm2 dynamin 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Lethal congenital contracture syndrome 5		 OMIM
CTD
ClinVar		 PMID:18414213 PMID:23092955 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 8:19,978,313...20,060,162
Ensembl chr 8:19,978,400...20,060,157 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10833
      lethal congenital contracture syndrome 12
        Lethal Congenital Contracture Syndrome 5 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        peripheral nervous system disease 4110
          neuropathy 3895
            neuromuscular disease 3052
              muscular disease 2142
                arthrogryposis multiplex congenita 242
                  lethal congenital contracture syndrome 12
                    Lethal Congenital Contracture Syndrome 5 1
paths to the root