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brachydactyly type C
Summary
- Synonym
-
- 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.
- Super Class
- autosomal dominant disease brachydactyly
External Links
- Disease Ontology
- DOID:0110970
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O43451 | Maltase-glucoamylase | |
| P14410 | Sucrase-isomaltase, intestinal | |
| Q09327 | Beta-1,4-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase |
