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 3 ID (Ontology) DOID:0111607 (Human Disease)
Definition A distal arthrogryposis characterized by distal arthrogryposis with short stature and cleft palate that has_material_basis_in heterozygous mutation in the PIEZO2 gene on chromosome 18p11.22-p11.21.
Also Known As "camptodactyly-cleft palate-clubfoot syndrome" ; "DA3" ; "distal arthrogryposis multiplex congenita type IIA" (for all, see Synonyms field below)
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 Genes
 distal arthrogryposis type 3       1
 for disease ribbon | distal arthrogryposis type 3       1
 model of | distal arthrogryposis type 3       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease__
muscle tissue disease           |
 |__distal arthrogryposis_______|
                                distal arthrogryposis type 3  1 rec.
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Is a distal arthrogryposis
autosomal dominant disease
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Synonyms
  • "camptodactyly-cleft palate-clubfoot syndrome" EXACT
    "DA3" EXACT OMO:0003012
    "distal arthrogryposis multiplex congenita type IIA" EXACT
    "Gordon syndrome" EXACT
Secondary IDs
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GARD:2553
MESH:C537288
MIM:114300
ORDO:376
SNOMEDCT_US_2021_09_01:897570002