All Diseases

Showing 1–100 of 16,077 diseases

11p15.4 microduplication syndrome

12q14 microdeletion syndrome

12q15q21.1 microdeletion syndrome

13q12.3 microdeletion syndrome

14q11.2 microduplication syndrome

14q12 microdeletion syndrome

14q32 duplication syndrome

15q overgrowth syndrome

15q11q13 microduplication syndrome

15q14 microdeletion syndrome

16p11.2p12.2 microduplication syndrome

16p12.1p12.3 triplication syndrome

16p13.11 microdeletion syndrome

16p13.11 microduplication syndrome

16q24.1 microdeletion syndrome

16q24.3 microdeletion syndrome

17q11.2 microduplication syndrome

17q24.2 microdeletion syndrome

19p13.12 microdeletion syndrome

19p13.3 microduplication syndrome

1p21.3 microdeletion syndrome

1q44 microdeletion syndrome

2-hydroxyglutaric aciduria

2-methylbutyryl-CoA dehydrogenase deficiency

20p12.3 microdeletion syndrome

20p13 microdeletion syndrome

20q11.2 microdeletion syndrome

20q11.2 microduplication syndrome

20q13.33 microdeletion syndrome

22q-related schwannomatosis

22q11.2 deletion syndrome

2p13.2 microdeletion syndrome

2p21 microdeletion syndrome

2p21 microdeletion syndrome without cystinuria

2q23.1 microdeletion syndrome

2q23.1 microduplication syndrome

2q24 microdeletion syndrome

2q31.1 microdeletion syndrome

2q33.1 microdeletion syndrome

2q37 microdeletion syndrome

3-hydroxy-3-methylglutaric aciduria

3-hydroxy-3-methylglutaryl-CoA synthase deficiency

3-hydroxyisobutyric aciduria

3-hydroxyisobutyryl-CoA hydrolase deficiency

3-M syndrome

3-methylcrotonyl-CoA carboxylase 1 deficiency

3-methylcrotonyl-CoA carboxylase 2 deficiency

3-methylcrotonyl-CoA carboxylase deficiency

3-methylglutaconic aciduria

3-methylglutaconic aciduria type 1

3-methylglutaconic aciduria type 3

3-methylglutaconic aciduria type 4

3-methylglutaconic aciduria type 5

3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome

3M syndrome 1

3M syndrome 2

3M syndrome 3

3MC syndrome

3MC syndrome 1

3MC syndrome 2

3MC syndrome 3

3p- syndrome

3p25.3 microdeletion syndrome

3q26 microduplication syndrome

3q27.3 microdeletion syndrome

45,X/46,XY mixed gonadal dysgenesis

46 XX gonadal dysgenesis

46 XY differences of sex development

46,XX disorder of sex development

46,XX disorder of sex development-anorectal anomalies syndrome

46,XX ovotesticular disorder of sex development

46,XX testicular disorder of sex development

46,XY complete gonadal dysgenesis

46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency

46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency

46,XY ovotesticular disorder of sex development

46,XY partial gonadal dysgenesis

46,XY sex reversal 11

46,XY sex reversal 4

47,XYY syndrome

48,XXXY syndrome

48,XXYY syndrome

48,XYYY syndrome

49,XXXXY syndrome

49,XXXYY syndrome

49,XYYYY syndrome

4p16.3 microduplication syndrome

5-fluorouracil poisoning

5-oxoprolinase deficiency

5q14.3 microdeletion syndrome

5q35 microduplication syndrome

6p22 microdeletion syndrome

6q terminal deletion syndrome

6q16 deletion syndrome

7p22.1 microduplication syndrome

7q11.23 microduplication syndrome

8p inverted duplication/deletion syndrome

8p11.2 deletion syndrome

8p23.1 duplication syndrome

8p23.1 microdeletion syndrome

Showing 1–100 of 16,077 diseases