Search Ontology:
Human Disease

brachydactyly type A2

Term ID
DOID:0110965
Synonyms
  • BDA2
  • brachymesophalangy II
  • Mohr-Wriedt type brachydactyly
Definition
A brachydactyly characterized by autosomal dominant inheritance of malformations of the middle phalanx of the index finger and anomalies of the second toe that has_material_basis_in heterozygous mutation in the BMPR1B gene on chromosome 4q or in the GDF5 gene on chromosome 20q11 or heterozygous duplication in a regulatory element of BMP2 on chromosome 20p12. (3)
References
Ontology
Human Disease   ( DOID:0110965 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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