Term Name: proximal symphalangism 1
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.
Ontology: Human Disease [DOID:0080787]   ( DOID:0080787 )

Relationships
is a type of: proximal symphalangism