OBO ID: DOID:0080788
Term Name: proximal symphalangism 2 Search Ontology:
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:
OTHER proximal symphalangism 2 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GDF5 Symphalangism, proximal, 1B 615298
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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