Search Ontology:
Human Disease

brachydactyly type C

Term ID
DOID:0110970
Synonyms
  • BDC
Definition
A brachydactyly characterized by rachymesophalangy of the index, middle and little fingers, hyperphalangy of the index and middle finger, and shortening of the 1st metacarpal that has_material_basis_in heterozygous mutation in the GDF5 gene on chromosome 20q11. https://www.ncbi.nlm.nih.gov/pubmed/9288091
References
  • GARD:986
  • MESH:C537093
  • MIM:113100
  • ORDO:93384
  • SNOMEDCT_US_2023_03_01:389169005
  • UMLS_CUI:C1300268
  • UMLS_CUI:C1862103
Ontology
Human Disease   ( DOID:0110970 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models