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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
For additional species annotation, visit the Alliance of Genome Resources.


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cocoon syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chuk conserved helix-loop-helix ubiquitous kinase JBrowse link 1 263,848,829 263,884,354 RGD:7240710
RGD:8554872

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  disease 14759
    syndrome 4210
      cocoon syndrome 1
Path 2
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  disease 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        Congenital Abnormalities 3137
          Musculoskeletal Abnormalities 1185
            Craniofacial Abnormalities 945
              cocoon syndrome 1
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