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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 MIM: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