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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 8
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Accession:DOID:9002593 term browser browse the term
Definition:An axoglial form of arthrogryposis multiplex congenita, that is characterized by congenital distal joint contractures, reduced fetal movements, and severe motor paralysis leading to death early in the neonatal period. (OMIM)
Synonyms:exact_synonym: LCCS8
 primary_id: OMIM:616287


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Lethal Congenital Contracture Syndrome 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADCY6 adenylate cyclase 6 ISO ClinVar Annotator: match by term: Lethal congenital contracture syndrome 8 OMIM
ClinVar		 PMID:23806086 PMID:24088041 PMID:24319099 PMID:25741868 PMID:26257172 More... NCBI chr 5:14,834,420...14,855,309
Ensembl chr 5:14,834,426...14,850,728 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17412
    syndrome 9894
      lethal congenital contracture syndrome 11
        Lethal Congenital Contracture Syndrome 8 1
Path 2
Term Annotations click to browse term
  disease 17412
    disease of anatomical entity 14873
      nervous system disease 12960
        peripheral nervous system disease 3993
          neuropathy 3802
            neuromuscular disease 2980
              muscular disease 2091
                arthrogryposis multiplex congenita 237
                  lethal congenital contracture syndrome 11
                    Lethal Congenital Contracture Syndrome 8 1
paths to the root