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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 7
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Accession:DOID:9000854 term browser browse the term
Definition:An axoglial form of arthrogryposis multiplex congenita, that is characterized by congenital distal joint contractures, polyhydramnios, reduced fetal movements, and severe motor paralysis leading to death early in the neonatal period. (OMIM)
Synonyms:exact_synonym: LCCS7
 primary_id: MIM:616286
 alt_id: RDO:9001627


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Lethal Congenital Contracture Syndrome 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CNTNAP1 contactin associated protein 1 ISO ClinVar Annotator: match by term: Lethal congenital contracture syndrome 7 OMIM
ClinVar		 PMID:24319099 PMID:25741868 PMID:27668699 PMID:27818385 PMID:28254648 More... NCBI chr17:14,618,294...14,635,193
Ensembl chr17:14,842,577...14,858,896 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15759
    syndrome 10516
      lethal congenital contracture syndrome 12
        Lethal Congenital Contracture Syndrome 7 1
Path 2
Term Annotations click to browse term
  disease 15759
    disease of anatomical entity 15436
      nervous system disease 13496
        peripheral nervous system disease 4190
          neuropathy 4000
            neuromuscular disease 3164
              muscular disease 2188
                arthrogryposis multiplex congenita 256
                  lethal congenital contracture syndrome 12
                    Lethal Congenital Contracture Syndrome 7 1
paths to the root