Search Ontology:
Human Disease

fetal encasement syndrome

Term ID
DOID:0060647
Synonyms
  • cocoon syndrome
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. https://www.ncbi.nlm.nih.gov/pubmed/20961246
References
Ontology
Human Disease   ( DOID:0060647 )
Relationships
is a type of
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Genes Involved
Zebrafish Models