fetal encasement syndrome

Summary

DOID:0060647 - fetal encasement syndrome

Disease Ontology 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.

Synonyms: cocoon syndrome, fetal encasement syndrome,

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: chuk

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0013334 - cocoon syndrome

MONDO:0013334 - cocoon syndrome

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), syndrome (is_a)