Visualize Submit Comment
Metadata
ID DOID:0110970
Name brachydactyly type C
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
Xrefs

GARD:986

MESH:C537093

OMIM:113100

ORDO:93384

SNOMEDCT_US_2023_03_01:389169005

UMLS_CUI:C1300268

UMLS_CUI:C1862103

Subsets

DO_rare_slim

Synonyms

BDC [EXACT]

Parent Relationships

is_a autosomal dominant disease

is_a brachydactyly

Add an item to the term tracker