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

• OMIM:185800

Ontology

Human Disease   ( DOID:0080787 )