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Human Disease

proximal symphalangism 2

Term ID
DOID:0080788
Synonyms
Definition
A proximal symphalangism that is characterized by absence of the cuboid bone and lack of shortness of the first and fifth metacarpal bones, and the presence of distal interphalangeal joint fusions and flat feet and that has_material_basis_in heterozygous mutation in the GDF5 gene on chromosome 20q11. https://pubmed.ncbi.nlm.nih.gov/16892395/
References
Ontology
Human Disease   ( DOID:0080788 )
Relationships
is a type of
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Genes Involved
Zebrafish Models