UCN2, urocortin 2, 90226

N. diseases: 56; N. variants: 5
Disease: Congenital absence of tibia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265633
Disease: Congenital absence of tibia
Congenital absence of tibia 		0.010 Biomarker disease BEFREE Among them, SRP type II (Majewski; MIM 263520) is characterised by short ovoid tibiae or tibial agenesis and is radiographically closely related to SRP type IV (Beemer-Langer; MIM 269860) which is distinguished by bowed radii and ulnae and relatively well tubulated tibiae. 22499340 2012