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MONDO:0012435
Also known as: 3-methylglutaconic aciduria caused by mutation in DNAJC19, 3-methylglutaconic aciduria type 5, 3-methylglutaconic aciduria type V +14 more
MONDO:0044724
Also known as: 3-methylglutaconic aciduria-epilepsy-spasticity-severe intellectual disability syndrome, 3-methylglutaconic acuduria type IX, MGCA9, MGA9 +4 more
MONDO:0013875
Also known as: 3-methylglutaconic aciduria caused by mutation in SERAC1, 3-methylglutaconic aciduria type 6, 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome +11 more
MONDO:0014561
Also known as: 3-methylglutaconic aciduria type 7, 3-methylglutaconic aciduria type VII, 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia +8 more
MONDO:0017398
Also known as: Malpuech-Michels-Mingarelli-Carnevale syndrome, craniofacial-ulnar-renal syndrome, oculopalatoskeletal syndrome
MONDO:0009770
Also known as: 3MC syndrome 1, 3MC syndrome caused by mutation in MASP1, 3MC syndrome type 1 +7 more
MONDO:0009927
Also known as: 3MC syndrome 2, 3MC syndrome caused by mutation in COLEC11, 3MC syndrome type 2 +8 more
MONDO:0013424
Also known as: 3p- syndrome, Chromosome 3, Monosomy 3p, chromosome 3pter-p25 deletion syndrome +16 more
MONDO:0019878
Also known as: Cornelia de Lange-like syndrome, dup(3)(q26), dup(3q) syndrome +1 more
MONDO:0018341
Also known as: Del(3)(q27.3)
MONDO:0015779
Also known as: 45,X/46,XY MGD, 45,X/46,XY disorder of Sex development, 45,X/46,XY gonadal dysgenesis +4 more
MONDO:0009299
Also known as: 46,XX complete gonadal dysgenesis, 46,XX gonadal dysgenesis, 46,XX ovarian dysgenesis +8 more
MONDO:0017576
Also known as: 46,XX DSD, 46,XX differences of Sex development, 46,XX disorders of Sex development +1 more
MONDO:0009915
Also known as: female pseudohermaphroditism-skeletal anomalies syndrome, pseudohermaphroditism, female, with skeletal anomalies
MONDO:0016281
Also known as: 46,XX ovotesticular DSD, ovotesticular DSD, ovotesticular differences of sex development +2 more
MONDO:0100249
Also known as: 46,XX testicular DSD, 46,XX testicular differences of sex development, 46,XX testicular disorder of sex development +7 more
MONDO:0010765
Also known as: 46 XY gonadal dysgenesis, 46, XY CGD, 46, XY complete gonadal dysgenesis +11 more
MONDO:0020040
Also known as: 46,XY DSD, 46,XY differences of Sex development, 46,XY disorders of Sex development +4 more
MONDO:0009916
Also known as: 17 Beta HSD3 deficiency, 17 beta HSD3 deficiency, 17-beta-hydroxysteroid dehydrogenase 3 deficiency +18 more
MONDO:0009923
Also known as: 3-oxo-5 Alpha-steroid Delta 4-dehydrogenase deficiency, 46,XY DSD due to 5-alpha-reductase 2 deficiency, 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency +9 more