Search Ontology:
Human Disease

proximal symphalangism 1

Term ID
DOID:0080787
Synonyms
Definition
A proximal symphalangism that is characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and, in some cases, conductive deafness and that has_material_basis_in heterozygous mutation in the NOG gene on chromosome 17q22. https://pubmed.ncbi.nlm.nih.gov/16353259/
References
Ontology
Human Disease   ( DOID:0080787 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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