ZFIN Human Disease: fetal akinesia deformation sequence syndrome 1

OBO ID: DOID:0111377

Term Name:	fetal akinesia deformation sequence syndrome 1		Search Ontology:
Synonyms:	FADS1
Definition:	A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in the MUSK gene on chromosome 9q31.3. https://www.ncbi.nlm.nih.gov/pubmed/25537362
References:	OMIM:208150
Ontology:	Human Disease ( DOID:0111377 )

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 1 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
MUSK	musk	Fetal akinesia deformation sequence 1	208150

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None