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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:fetal encasement syndrome
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Accession:DOID:0060647 term browser browse the term
Definition:A syndrome that has_material_basis_in homozygous mutation in the CHUK gene on chromosome 10q24 and is characterized by multiple fetal malformations including defective face and seemingly absent limbs, which are bound to the trunk and encased under the skin. (DO)
Synonyms:exact_synonym: cocoon syndrome
 primary_id: OMIM:613630
 xref: ORDO:465824
For additional species annotation, visit the Alliance of Genome Resources.


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fetal encasement syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chuk component of inhibitor of nuclear factor kappa B kinase complex ISO ClinVar Annotator: match by OMIM:613630
ClinVar Annotator: match by term: Cocoon syndrome
OMIM
ClinVar
PMID:20961246 NCBI chr 1:263,848,829...263,884,354
Ensembl chr 1:263,848,884...263,885,169
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      fetal encasement syndrome 1
Path 2
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        genetic disease 7859
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal recessive disease 2564
                fetal encasement syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.