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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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:23806086 PMID:24088041 PMID:24319099 PMID:25741868 PMID:26257172 More... NCBI chr 7:129,742,827...129,763,922
Ensembl chr 7:129,742,838...129,763,754 		JBrowse link
G Spmip11 sperm microtubule inner protein 11 ISO ClinVar Annotator: match by term: Lethal congenital contracture syndrome 8 ClinVar PMID:24319099 NCBI chr 7:129,720,950...129,742,485
Ensembl chr 7:129,720,950...129,742,485 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18970
    syndrome 10900
      lethal congenital contracture syndrome 12
        Lethal Congenital Contracture Syndrome 8 2
Path 2
Term Annotations click to browse term
  disease 18970
    disease of anatomical entity 18265
      nervous system disease 14120
        peripheral nervous system disease 4131
          neuropathy 3914
            neuromuscular disease 3064
              muscular disease 2153
                arthrogryposis multiplex congenita 240
                  lethal congenital contracture syndrome 12
                    Lethal Congenital Contracture Syndrome 8 2
paths to the root