The functional annotation and HPO implication of ENPP1 related to HPP encompass chondrocalcinosis (rs766592), alkaline phosphatase measurement (rs453639), body mass index (rs3756784), body mass index-adjusted waist-hip ratio (rs4470875) [21,22], growth delay, short stature, seizure, skeletal dysplasia, coxa vara and valga, genu valgum and varum, osteomalacia, delayed skeletal maturation, tibial bowing, craniosynosostosis, hypoplasia of teeth, delayed eruption of teeth, carious teeth, nephrocalcinosis, blue sclerae, ankylosis, and elevated alkaline phosphatase of bone origin [21,23]. The gene discussed is GFER; the disease is skeletal dysplasia.