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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 11
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Accession:DOID:9000943 term browser browse the term
Synonyms:exact_synonym: GLDN-RELATED CONDITION;   LCCS11;   lethal congenital contracture arthrogryposis-11
 primary_id: OMIM:617194
 alt_id: RDO:9001625

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Lethal Congenital Contracture Syndrome 11 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GLDN gliomedin ISO ClinVar Annotator: match by term: GLDN-related condition | ClinVar Annotator: match by term: Lethal congenital contracture syndrome 11 OMIM
ClinVar		 PMID:25741868 PMID:27616481 PMID:28492532 PMID:28726266 PMID:31680123 More... NCBI chr26:31,966,166...32,034,236
Ensembl chr26:31,966,961...32,034,016 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17472
    syndrome 9936
      lethal congenital contracture syndrome 12
        Lethal Congenital Contracture Syndrome 11 1
Path 2
Term Annotations click to browse term
  disease 17472
    disease of anatomical entity 14861
      nervous system disease 12945
        peripheral nervous system disease 4013
          neuropathy 3824
            neuromuscular disease 3009
              muscular disease 2106
                arthrogryposis multiplex congenita 233
                  lethal congenital contracture syndrome 12
                    Lethal Congenital Contracture Syndrome 11 1
paths to the root