Arterial tortuosity syndrome

Disease Term Disease ID Gene Symbol Classification References Source
ARTERIAL TORTUOSITY SYNDROME
2080503342C1859726MESH:C565942MONDO:0008818
SLC2A10 Causal
16550171 14569121 17935213 20547159
CTD ClinGen ClinVar Disgenet HPO Orphanet
EFEMP2 Unknown — Disgenet
ARTERIAL TORTUOSITY-BONE FRAGILITY SYNDROME
620908C5935641MONDO:0971179
EMILIN1 Causal
36351433 40062121
ClinGen ClinVar Disgenet GWAS catalog HPO