ZFIN Human Disease: fetal akinesia deformation sequence syndrome 2

OBO ID: DOID:0111378

Term Name:	fetal akinesia deformation sequence syndrome 2		Search Ontology:
Synonyms:	FADS2
Definition:	A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in the RAPSN gene on chromosome 11p11.2. https://www.ncbi.nlm.nih.gov/pubmed/18179903
References:	OMIM:618388
Ontology:	Human Disease ( DOID:0111378 )

Relationships

is a type of:	autosomal recessive disease fetal akinesia deformation sequence syndrome autosomal recessive disease fetal akinesia deformation sequence syndrome Show first 5 Terms

OTHER fetal akinesia deformation sequence syndrome 2 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
RAPSN	rapsn	Fetal akinesia deformation sequence 2	618388

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None