CUI Disease Vocabulary Name in Vocabulary Code
C4552003 EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1 DO Ehlers-Danlos syndrome progeroid type 0050802
C4552003 EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1 MONDO Ehlers-Danlos syndrome progeroid type 0007526
C4552003 EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1 MONDO Ehlers-Danlos syndrome, progeroid type 1 0020682
C4552003 EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1 MSH Ehlers-Danlos syndrome, progeroid form C536201
C4552003 EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1 MSH Xylosylprotein 4-beta-galactosyltransferase deficiency C536201
C4552003 EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1 OMIM EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1 130070
C4552003 EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1 ORDO B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome 75496