Human Gene Set: HP_PROXIMAL_SYMPHALANGISM_OF_HANDS
Standard name
HP_PROXIMAL_SYMPHALANGISM_OF_HANDS
Systematic name
M48738
Brief description
Proximal symphalangism of hands
Full description or abstract
The term proximal symphalangism refers to a bony fusion of the middle and proximal phalanges of the digits of the hand, in other words the proximal interphalangeal joint (PIJ) is missing which can be seen either on x-rays or as an absence of the proximal interphalangeal finger creases. [https://orcid.org/0009-0006-4530-3154]