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 2B ID (Ontology) DOID:0111599 (Human Disease)
Definition A distal arthrogryposis characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate.
Also Known As "DA2B" ; "Freeman-Sheldon syndrome variant" ; "Sheldon-Hall syndrome"
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DO.org
Annotations
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Data Class Field Records
Alleles (FBal)  HUMAN_DISEASE_INTERACTIONS       1
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Relevant FlyBase reports
 Alleles Genes
 distal arthrogryposis type 2B       1      1
 model of | distal arthrogryposis type 2B       1       --
Spanning Tree (Parents/Children)
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  muscle tissue disease
   |__distal arthrogryposis
       |__distal arthrogryposis type 2B  7 rec.
           |__distal arthrogryposis type 2B1 1 rec.
           |__distal arthrogryposis type 2B2 1 rec.
           |__distal arthrogryposis type 2B3 3 rec.
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Is a distal arthrogryposis
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Synonyms
  • "DA2B" EXACT OMO:0003012
    "Freeman-Sheldon syndrome variant" EXACT
    "Sheldon-Hall syndrome" EXACT
Secondary IDs
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MESH:C538400
ORDO:1147
SNOMEDCT_US_2021_09_01:715216008