Search Ontology:
Human Disease

arthrogryposis, renal dysfunction, and cholestasis 2

Term ID
DOID:0111354
Synonyms
  • ARCS2
Definition
An arthrogryposis, renal dysfunction, and cholestasis that has_material_basis_in homozygous or compound heterozygous mutation in VIPAS39 on 14q24.3. https://www.ncbi.nlm.nih.gov/pubmed/20190753
References
Ontology
Human Disease   ( DOID:0111354 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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