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ONTOLOGY REPORT - ANNOTATIONS


Term:cocoon 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: fetal encasement syndrome
 primary_id: OMIM:613630
 alt_id: RDO:0009922
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cocoon syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chuk component of inhibitor of nuclear factor kappa B kinase complex JBrowse link 1 263,848,829 263,884,354 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 15620
    syndrome 5159
      cocoon syndrome 1
Path 2
Term Annotations click to browse term
  disease 15620
    Developmental Diseases 8739
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7521
        genetic disease 7009
          monogenic disease 4562
            autosomal genetic disease 3515
              autosomal recessive disease 1981
                cocoon syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.