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Human Disease

distal arthrogryposis type 2B1

Term ID
DOID:0111600
Synonyms
  • DA2B1
Definition
A distal arthrogryposis type 2B that has_material_basis_in heterozygous mutation in the TNNI2 gene on chromosome 11p15.5. https://www.ncbi.nlm.nih.gov/pubmed/12592607
References
Ontology
Human Disease   ( DOID:0111600 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models