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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 ClinVar Annotator: match by term: Lethal congenital contracture syndrome 5 OMIM
ClinVar		 PMID:18414213 PMID:23092955 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr20:50,398,866...50,487,303
Ensembl chr20:50,398,864...50,487,241 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17774
    syndrome 10062
      lethal congenital contracture syndrome 12
        Lethal Congenital Contracture Syndrome 5 1
Path 2
Term Annotations click to browse term
  disease 17774
    disease of anatomical entity 15146
      nervous system disease 13207
        peripheral nervous system disease 4035
          neuropathy 3840
            neuromuscular disease 3016
              muscular disease 2129
                arthrogryposis multiplex congenita 243
                  lethal congenital contracture syndrome 12
                    Lethal Congenital Contracture Syndrome 5 1
paths to the root