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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 1
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Accession:DOID:0060559 term browser browse the term
Definition:A lethal congenital contracture syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the mRNA export mediator the GLE1 gene on chromosome 9q34. (DO)
Synonyms:exact_synonym: LCCS;   LCCS1;   LETHAL CONGENITAL CONTRACTURAL SYNDROME FINNISH TYPE;   lethal autosomal recessive syndrome of multiple congenital contractures;   multiple contracture syndrome, Finnish type
 broad_synonym: GLE1-RELATED DISORDER
 primary_id: MESH:C537194
 alt_id: OMIM:253310;   RDO:0002983
 xref: GARD:3227;   ORDO:1486



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lethal congenital contracture syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gle1 GLE1 RNA export mediator ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Lethal autosomal recessive syndrome of multiple congenital contractures | ClinVar Annotator: match by term: Lethal congenital contractural syndrome Finnish type | ClinVar Annotator: match by term: Lethal congenital contracture syndrome 1
OMIM
CTD
ClinVar
PMID:7770128 PMID:16892327 PMID:18204449 PMID:24243016 PMID:24961629 More... NCBI chr 3:13,209,312...13,237,018
Ensembl chr 3:13,209,322...13,237,379
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21120
    syndrome 10776
      lethal congenital contracture syndrome 13
        lethal congenital contracture syndrome 1 1
Path 2
Term Annotations click to browse term
  disease 21120
    disease of anatomical entity 18195
      nervous system disease 14031
        peripheral nervous system disease 4091
          neuropathy 3876
            neuromuscular disease 3041
              muscular disease 2129
                arthrogryposis multiplex congenita 241
                  lethal congenital contracture syndrome 13
                    lethal congenital contracture syndrome 1 1
paths to the root