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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


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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 term: Cocoon syndrome OMIM
ClinVar		 PMID:20961246 NCBI chr28:12,964,670...13,001,557
Ensembl chr28:12,965,479...13,001,512 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17774
    syndrome 10062
      fetal encasement syndrome 1
Path 2
Term Annotations click to browse term
  disease 17774
    disease of anatomical entity 15146
      nervous system disease 13207
        Neurologic Manifestations 9572
          sensory system disease 6587
            skin disease 3751
              Skin Abnormalities 1281
                fetal encasement syndrome 1
paths to the root