Search Ontology:
Human Disease

fetal akinesia deformation sequence syndrome 1

Term ID
DOID:0111377
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
Ontology
Human Disease   ( DOID:0111377 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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