OBO ID: DOID:0110970 |
Term Name: | brachydactyly type C | Search Ontology: | |
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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 | ||
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Ontology: | Human Disease ( DOID:0110970 ) |
OTHER brachydactyly type C PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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