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 )