ZFIN Human Disease: fetal encasement syndrome

OBO ID: DOID:0060647

Term Name:	fetal encasement syndrome		Search Ontology:
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:	OMIM:613630 ORDO:465824
Ontology:	Human Disease ( DOID:0060647 )

Relationships

is a type of:	autosomal recessive disease syndrome autosomal recessive disease syndrome Show first 5 Terms

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Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
CHUK	chuk	?Cocoon syndrome	613630

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None