Search Ontology:
Human Disease

arthrogryposis, renal dysfunction, and cholestasis 1

Term ID
DOID:0111353
Synonyms
  • ARCS1
Definition
An arthrogryposis, renal dysfunction, and cholestasis that has_material_basis_in homozygous or compound heterozygous mutation in VPS33B on 15q26.1. https://www.ncbi.nlm.nih.gov/pubmed/15052268
References
Ontology
Human Disease   ( DOID:0111353 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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