Search Ontology:
Human Disease

brachydactyly type B2

Term ID
DOID:0110975
Synonyms
  • BDB2
Definition
A brachydactyly characterized by hypoplasia/aplasia of distal phalanges, distal symphalangism, fusion of carpal/tarsal bones, and partial cutaneous syndactyly that has_material_basis_in mutations in the NOG gene on chromosome 17q22. https://www.ncbi.nlm.nih.gov/pubmed/17668388
References
Ontology
Human Disease   ( DOID:0110975 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models