FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term distal arthrogryposis type 2B1 ID (Ontology) DOID:0111600 (Human Disease)
Definition A distal arthrogryposis type 2B that has_material_basis_in heterozygous mutation in the TNNI2 gene on chromosome 11p15.5.
Also Known As "DA2B1"
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DO.org
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 Genes
 distal arthrogryposis type 2B1       1
 for disease ribbon | distal arthrogryposis type 2B1       1
 model of | distal arthrogryposis type 2B1       1
Spanning Tree (Parents/Children)
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distal arthrogryposis
 |__distal arthrogryposis type 2B__
autosomal genetic disease          |
 |__autosomal dominant disease_____|
                                   distal arthrogryposis type 2B1  1 rec.
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Is a autosomal dominant disease
distal arthrogryposis type 2B
Part of
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Synonyms
  • "DA2B1" EXACT OMO:0003012
Secondary IDs
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MIM:601680